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
CDYL_chr6_4771404_4960544	4929493	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	250	0.0040	20	c.692 others(37): Show c.692-6008_692-5989dupCACACACACACACACACACA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM1_chr19_42502306_42533481	42513893	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0130 a0002c0003t0004g0130	1	290	0.0035	20	c.124 others(39): Show c.1247-1434_1247-1415dupATATATATATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TATATATA others(13): Show TATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG06807.hp1 HG03139.hp2 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0148 a0002c0003t0002g0189 a0002c0003t0002g0148 a0002c0003t0002g0189	2	290	0.0069	20	c.124 others(39): Show c.1247-1437_1247-1436insTTATTTATATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510611	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAGAAGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0390 a0006c0009t0001g0390	1	438	0.0023	20	c.173 others(37): Show c.1737+418_1737+419insCCTTCTTCTTTCTTTCTTTC	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518079	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02647.hp2 others(3): Show HG02280.hp2 HG02572.hp2 HG02647.hp2 HG03225.hp1 NA18967.hp1 NA19004.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0135 a0001c0001t0001g0157 a0001c0001t0001g0189 others(3): Show a0001c0001t0001g0135 a0001c0001t0001g0157 a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0001g0218 a0006c0010t0001g0124	6	438	0.0137	20	c.103 others(37): Show c.1031-856_1031-855insTCTTTCTTTCTTTCTTTCTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518103	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18979.hp2 HG02083.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0164 a0001c0001t0001g0148 a0001c0001t0001g0164	2	438	0.0046	20	c.103 others(37): Show c.1031-880_1031-879insCCTTTCTTTCTTTCTTTCTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581916	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	314	0.0032	20	c.41 others(35): Show c.41-564_*41-563insATATATATATATATATATAT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19240.hp1 HG03834.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0198 a0001c0001t0001g0117 a0001c0001t0001g0198	2	314	0.0064	20	c.41 others(35): Show c.41-568_*41-567insATATATATATATATATATTT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CEBPZ_chr2_37196612_37236596	37235639	C C	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02300.hp2 NA18980.hp1 others(2): Show HG01433.hp1 HG02300.hp2 NA18980.hp1 NA19002.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0043 a0002c0003t0001g0222 a0002c0003t0001g0011 a0002c0003t0001g0043 a0002c0003t0001g0222	5	438	0.0114	20	c.-40 others(31): Show c.-4092_-4073dupATAAATAAATAAATAAATAA	CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding		4044		chr2	TogoVar
CECR2_chr22_17364460_17563151	17428798	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp2 HG01516.hp1 others(16): Show HG01109.hp1 HG01515.hp2 HG01516.hp1 HG01943.hp1 HG02717.hp1 HG02922.hp1 HG02965.hp1 HG03516.hp1 HG03579.hp2 NA18939.hp2 NA18957.hp1 NA18957.hp2 NA18972.hp1 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA19081.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0020 a0001c0001t0037 a0001c0001t0079 a0001c0001t0081 a0001c0009t0048 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0012 a0002c0002t0014	a0001c0001t0001g0093 a0001c0001t0003g0049 a0001c0001t0003g0109 others(16): Show a0001c0001t0001g0093 a0001c0001t0003g0049 a0001c0001t0003g0109 a0001c0001t0004g0254 a0001c0001t0006g0003 a0001c0001t0010g0040 a0001c0001t0011g0172 a0001c0001t0015g0262 a0001c0001t0020g0048 a0001c0001t0037g0294 a0001c0001t0079g0068 a0001c0001t0081g0164 a0001c0009t0048g0273 a0002c0002t0002g0081 a0002c0002t0003g0233 a0002c0002t0005g0149 a0002c0002t0006g0004 a0002c0002t0012g0153 a0002c0002t0014g0208	19	324	0.0586	20	c.127 others(39): Show c.127-48780_127-48761dupGTGTGTGTGTGTGTGTGTGT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17428798	T T	TTTTGTGT others(13): Show TTTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0238 a0001c0001t0027g0238	1	324	0.0031	20	c.127 others(39): Show c.127-48789_127-48788insTTGTGTGTGTGTGTGTGTGT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17447033	C C	CTGTTTTT others(13): Show CTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp2 HG03041.hp2 others(1): Show HG02615.hp2 HG02922.hp2 HG03041.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0012 a0002c0002t0031 a0001c0001t0010 a0001c0001t0012 a0002c0002t0031	a0001c0001t0010g0270 a0001c0001t0010g0271 a0001c0001t0012g0098 others(1): Show a0001c0001t0010g0270 a0001c0001t0010g0271 a0001c0001t0012g0098 a0002c0002t0031g0243	4	324	0.0124	20	c.127 others(39): Show c.127-30554_127-30553insGTTTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17481045	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02683.hp2 HG01515.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0182 a0001c0001t0002g0128 a0001c0001t0002g0182	2	324	0.0062	20	c.221 others(37): Show c.221+3363_221+3364insAAAAAAAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18			chr22	TogoVar
CECR2_chr22_17364460_17563151	17481046	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01358.hp2 HG02738.hp1 others(1): Show HG01081.hp1 HG01358.hp2 HG02738.hp1 HG02970.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0016 a0001c0001 a0002c0002 a0013c0016	a0001c0001t0008 a0001c0001t0080 a0002c0002t0022 others(1): Show a0001c0001t0008 a0001c0001t0080 a0002c0002t0022 a0013c0016t0002	a0001c0001t0008g0008 a0001c0001t0080g0084 a0002c0002t0022g0274 others(1): Show a0001c0001t0008g0008 a0001c0001t0080g0084 a0002c0002t0022g0274 a0013c0016t0002g0228	4	324	0.0124	20	c.221 others(37): Show c.221+3364_221+3365insAAAAAAAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18			chr22	TogoVar
CECR2_chr22_17364460_17563151	17481047	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG03471.hp1 HG01891.hp2 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0039 a0001c0001t0006 a0001c0001t0015 a0001c0001t0039	a0001c0001t0006g0319 a0001c0001t0015g0180 a0001c0001t0039g0278 a0001c0001t0006g0319 a0001c0001t0015g0180 a0001c0001t0039g0278	3	324	0.0093	20	c.221 others(37): Show c.221+3365_221+3366insAAAAAAAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18			chr22	TogoVar
CECR2_chr22_17364460_17563151	17504046	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18945.hp2 HG03516.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0132 a0001c0001t0020g0048 a0001c0001t0001g0132 a0001c0001t0020g0048	2	324	0.0062	20	c.701 others(35): Show c.701-788_701-769dupTAAATAAATAAATAAATAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17525285	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	324	0.0031	20	c.110 others(39): Show c.1108+1014_1108+1015insAAAAAAAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18			chr22	TogoVar
CECR2_chr22_17364460_17563151	17552774	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0007 a0003c0025t0007	a0003c0025t0007g0088 a0003c0025t0007g0088	1	324	0.0031	20	c.439 others(35): Show c.4390-48_4390-47insTTTTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF1_chr11_47460937_47558132	47489932	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	340	0.0029	20	c.72- others(33): Show c.72-909_72-908insAAAAAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01169.hp1 others(10): Show HG00323.hp1 HG00642.hp2 HG01169.hp1 HG01258.hp1 HG01496.hp1 HG02615.hp2 HG02897.hp1 HG02922.hp1 HG03209.hp1 HG03453.hp2 HG04115.hp2 NA18953.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0152 others(10): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0011 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0243 a0001c0001t0002g0285 a0001c0001t0003g0078 a0001c0001t0003g0093 a0001c0001t0003g0100 a0001c0001t0010g0102	13	340	0.0382	20	c.72- others(33): Show c.72-931_72-912dupAAAAAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47533635	A A	AATACATA others(13): Show AATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18945.hp2 NA18959.hp2 others(4): Show NA18944.hp1 NA18945.hp2 NA18959.hp2 NA18963.hp2 NA18981.hp2 NA18986.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0055 a0001c0001t0003g0056 others(4): Show a0001c0001t0003g0023 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0093	7	340	0.0206	20	c.-15 others(41): Show c.-154+19337_-154+19356dupGTATGTATGTATGTATGTAT	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47545867	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	340	0.0029	20	c.-15 others(39): Show c.-154+7124_-154+7125insCACACACACACACACACACA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11025239	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	194	0.0052	20	c.74+ others(35): Show c.74+7077_74+7078insGTGTGTATATATATATATAT	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(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0069 a0001c0001t0046g0069	1	194	0.0052	20	c.74+ others(35): Show c.74+7077_74+7078insGTGTGTGTGTATATATATAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11103487	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19010.hp2 NA18522.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0014 a0001c0005t0001 a0001c0002t0014 a0001c0005t0001	a0001c0002t0014g0037 a0001c0005t0001g0163 a0001c0002t0014g0037 a0001c0005t0001g0163	2	194	0.0103	20	c.75- others(37): Show c.75-61998_75-61979dupTTTTTTTTTTTTTTTTTTTT	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(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02698.hp2 HG02258.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0031 a0001c0004t0001g0072 a0001c0001t0001g0031 a0001c0004t0001g0072	2	194	0.0103	20	c.75- others(37): Show c.75-16631_75-16612dupCACACACACACACACACACA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG02080.hp1 others(3): Show HG00323.hp2 HG00423.hp1 HG02080.hp1 HG02129.hp2 HG02523.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0035 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0004t0012 a0001c0005t0001	a0001c0001t0001g0115 a0001c0001t0035g0095 a0001c0002t0001g0126 others(3): Show a0001c0001t0001g0115 a0001c0001t0035g0095 a0001c0002t0001g0126 a0001c0002t0002g0170 a0001c0004t0012g0182 a0001c0005t0001g0110	6	194	0.0309	20	c.272 others(39): Show c.272-20384_272-20365dupGAAAGAAAGAAAGAAAGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197052	A A	AGAGAGAA others(13): Show AGAGAGAAGGAAAGAGAGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0056 a0001c0004t0001g0056	1	194	0.0052	20	c.272 others(39): Show c.272-20371_272-20370insGAGAAGGAAAGAGAGAAGGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11262940	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0173 a0001c0001t0050g0173	1	194	0.0052	20	c.539 others(37): Show c.539-3650_539-3631dupTTTTTTTTTTTTTTTTTTTT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF3_chr1_151695058_151721803	151696461	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp2 NA19012.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0016 a0001c0001t0005g0005 a0001c0001t0004g0016 a0001c0001t0005g0005	2	432	0.0046	20	c.69 others(31): Show c.6978_*6997dupGAAAGAAAGAAAGAAAGAAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3596		chr1	TogoVar
CELF3_chr1_151695058_151721803	151696498	T T	TTTCGTTC others(13): Show TTTCGTTCTTTCGTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	432	0.0023	20	c.69 others(31): Show c.6960_*6961insCGAAAGAACGAAAGAACGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3559		chr1	TogoVar
CELF3_chr1_151695058_151721803	151696498	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCGTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG03098.hp2 HG03453.hp1 others(9): Show HG01346.hp1 HG03098.hp2 HG03453.hp1 HG06807.hp1 NA18940.hp1 NA18967.hp2 NA18987.hp1 NA18999.hp1 NA19005.hp1 NA19056.hp1 NA19077.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0001t0024 a0001c0001t0035	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0006g0044 a0001c0001t0020g0041 a0001c0001t0024g0129 a0001c0001t0035g0070	12	432	0.0278	20	c.69 others(31): Show c.6960_*6961insCGAAAGAACGAAAGAAAGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3559		chr1	TogoVar
CELF3_chr1_151695058_151721803	151696498	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 NA18948.hp2 HG01070.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0036 a0001c0001t0003 a0001c0001t0036	a0001c0001t0003g0003 a0001c0001t0036g0067 a0001c0001t0003g0003 a0001c0001t0036g0067	2	432	0.0046	20	c.69 others(31): Show c.6960_*6961insCGAAAGAAAGAAAGAAAGAA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3559		chr1	TogoVar
CELF4_chr18_37238040_37570798	37353233	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01978.hp2 HG02132.hp1 others(1): Show HG01261.hp2 HG01978.hp2 HG02132.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0095 a0001c0001t0002g0148 a0001c0001t0021g0077 others(1): Show a0001c0001t0002g0095 a0001c0001t0002g0148 a0001c0001t0021g0077 a0001c0001t0021g0078	4	184	0.0217	20	c.370 others(39): Show c.370-31353_370-31352insATATATATATATATATATTT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37380792	A A	AATCCATC others(13): Show AATCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01070.hp1 others(6): Show HG00099.hp1 HG00741.hp1 HG01070.hp1 HG01261.hp1 HG02055.hp1 HG03927.hp1 NA19011.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0020 a0001c0002t0003 a0001c0002t0005	a0001c0001t0001g0093 a0001c0001t0001g0157 a0001c0001t0002g0086 others(6): Show a0001c0001t0001g0093 a0001c0001t0001g0157 a0001c0001t0002g0086 a0001c0001t0003g0183 a0001c0001t0018g0030 a0001c0001t0020g0057 a0001c0002t0003g0107 a0001c0002t0003g0118 a0001c0002t0005g0099	9	184	0.0489	20	c.370 others(39): Show c.370-58931_370-58912dupGGATGGATGGATGGATGGAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37444617	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG03486.hp1 HG02965.hp2 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0111 a0001c0001t0008g0136 a0001c0001t0008g0137 a0001c0001t0007g0111 a0001c0001t0008g0136 a0001c0001t0008g0137	3	184	0.0163	20	c.369 others(39): Show c.369+40888_369+40907dupGTGTGTGTGTGTGTGTGTGT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37470890	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	184	0.0054	20	c.369 others(39): Show c.369+14615_369+14634dupCTCTCTCTCTCTCTCTCTCT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37547160	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0027 a0001c0001t0028g0027	1	184	0.0054	20	c.286 others(39): Show c.286+18176_286+18195dupACACACACACACACACACAC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF5_chr19_3219661_3302076	3220976	T T	TCCCAGAC others(13): Show TCCCAGACACTCTGCTAAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	262	0.0038	20	c.-37 others(31): Show c.-3764_-3763insCCCAGACACTCTGCTAAGCC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		3684		chr19	TogoVar
CELF5_chr19_3219661_3302076	3226440	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01516.hp1 HG02071.hp1 others(5): Show HG01106.hp2 HG01516.hp1 HG02071.hp1 HG02647.hp1 HG02723.hp2 HG03239.hp2 HG03710.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0004	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0228 others(5): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0002g0229 a0001c0001t0003g0231 a0001c0003t0004g0131	8	262	0.0305	20	c.259 others(37): Show c.259+1459_259+1478dupCACACACACACACACACACA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3235789	A A	AATGGATG others(13): Show AATGGATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	262	0.0038	20	c.259 others(39): Show c.259+10799_259+10818dupGATGGATGGATGGATGGATG	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3248853	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	262	0.0038	20	c.260 others(37): Show c.260-2096_260-2077dupCCTTCCTTCCTTCCTTCCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3256064	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp1 HG02723.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0245 a0001c0001t0002g0251 a0001c0001t0001g0245 a0001c0001t0002g0251	2	262	0.0076	20	c.342 others(37): Show c.342+5006_342+5007insAAAAAAAAAAAAAAAAAAAA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3256064	C C	CAGAAAAA others(13): Show CAGAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp2 HG03831.hp2 others(2): Show HG02055.hp2 HG03579.hp2 HG03831.hp2 NA19000.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0005t0007	a0001c0001t0001g0063 a0001c0001t0001g0110 a0001c0001t0004g0109 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0110 a0001c0001t0004g0109 a0001c0002t0002g0041 a0001c0005t0007g0045	5	262	0.0191	20	c.342 others(37): Show c.342+4998_342+4999insGAAAAAAAAAAAAAAAAAAA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3299553	C C	CTTCTTCT others(13): Show CTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	262	0.0038	20	c.28 others(31): Show c.2836_*2837insTTCTTCTTCTTCTTCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2478		chr19	TogoVar
CELF5_chr19_3219661_3302076	3299556	C C	CTTCTTCT others(13): Show CTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	262	0.0038	20	c.28 others(31): Show c.2839_*2840insTTCTTCTTCTTCTTCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2481		chr19	TogoVar
CELF6_chr15_72279727_72325157	72314589	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0165 a0001c0001t0007g0165	1	300	0.0033	20	c.345 others(37): Show c.345+1236_345+1255dupAAAAAAAAAAAAAAAAAAAA	CELF6	ENSG00000140488.16	transcript	ENST00000287202.10	protein_coding	2/12			chr15	TogoVar
CELSR1_chr22_46356174_46542620	46366195	A A	AAGGGAAG others(13): Show AAGGGAAGGTGCGAGGCGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0048 a0006c0026t0001g0048	1	104	0.0096	20	c.830 others(37): Show c.8300+171_8300+190dupCCCCGCCTCGCACCTTCCCT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46460211	A A	ACACACAC others(13): Show ACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0018 a0006c0017t0001g0018	1	104	0.0096	20	c.418 others(39): Show c.4183+3495_4183+3496insGGGGTGTGTGTGTGTGTGTG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46523527	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18906.hp1 HG01109.hp1 NA18906.hp1	a0015 a0028 a0015 a0028	a0015c0045 a0028c0049 a0015c0045 a0028c0049	a0015c0045t0001 a0028c0049t0001 a0015c0045t0001 a0028c0049t0001	a0015c0045t0001g0062 a0028c0049t0001g0086 a0015c0045t0001g0062 a0028c0049t0001g0086	2	104	0.0192	20	c.354 others(41): Show c.3544+10080_3544+10099dupATTTATTTATTTATTTATTT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar

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