Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
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	a0001c0001t0001g0001 a0001c0001t0001g0001	1	292	0.0034	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	a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0001 a0001c0001t0001g0110	2	65	0.0308	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 a0002c0003t0001g0042 a0002c0003t0001g0219 a0002c0003t0001g0011 a0002c0003t0001g0042 a0002c0003t0001g0219	5	69	0.0725	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(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0033 a0001c0001t0062 a0001c0009t0021 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0093 a0001c0001t0003g0049 a0001c0001t0003g0109 others(16): Show a0001c0001t0001g0093 a0001c0001t0003g0049 a0001c0001t0003g0109 a0001c0001t0004g0254 a0001c0001t0005g0003 a0001c0001t0008g0172 a0001c0001t0009g0163 a0001c0001t0010g0040 a0001c0001t0014g0048 a0001c0001t0015g0262 a0001c0001t0033g0294 a0001c0001t0062g0068 a0001c0009t0021g0273 a0002c0002t0002g0081 a0002c0002t0002g0149 a0002c0002t0003g0153 a0002c0002t0003g0208 a0002c0002t0003g0233 a0002c0002t0005g0004	19	151	0.1258	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	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0238 a0001c0001t0023g0238	1	133	0.0075	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	a0001c0001t0003 a0001c0001t0010 a0002c0002t0026 a0001c0001t0003 a0001c0001t0010 a0002c0002t0026	a0001c0001t0003g0098 a0001c0001t0010g0270 a0001c0001t0010g0271 others(1): Show a0001c0001t0003g0098 a0001c0001t0010g0270 a0001c0001t0010g0271 a0002c0002t0026g0243	4	154	0.0260	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	321	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 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0016 a0001c0001 a0002c0002 a0008c0016	a0001c0001t0007 a0001c0001t0009 a0002c0002t0013 others(1): Show a0001c0001t0007 a0001c0001t0009 a0002c0002t0013 a0008c0016t0002	a0001c0001t0007g0008 a0001c0001t0009g0084 a0002c0002t0013g0274 others(1): Show a0001c0001t0007g0008 a0001c0001t0009g0084 a0002c0002t0013g0274 a0008c0016t0002g0228	4	303	0.0132	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	a0001c0001t0005 a0001c0001t0015 a0001c0001t0035 a0001c0001t0005 a0001c0001t0015 a0001c0001t0035	a0001c0001t0005g0319 a0001c0001t0015g0180 a0001c0001t0035g0278 a0001c0001t0005g0319 a0001c0001t0015g0180 a0001c0001t0035g0278	3	295	0.0102	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 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0132 a0001c0001t0014g0048 a0001c0001t0001g0132 a0001c0001t0014g0048	2	126	0.0159	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	157	0.0064	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	a0003c0025t0006 a0003c0025t0006	a0003c0025t0006g0088 a0003c0025t0006g0088	1	119	0.0084	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	a0001c0001t0003g0059 a0001c0001t0003g0059	1	335	0.0030	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	a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0145 others(10): Show a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0011 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0246 a0001c0001t0002g0276 a0001c0001t0003g0077 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0010g0102	13	80	0.1625	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 a0001c0001t0003g0046 a0001c0001t0003g0047 others(4): Show a0001c0001t0003g0023 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0095	7	13	0.5385	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	a0001c0001t0002g0252 a0001c0001t0002g0252	1	124	0.0081	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	66	0.0152	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	66	0.0152	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	a0001c0002t0013 a0001c0005t0001 a0001c0002t0013 a0001c0005t0001	a0001c0002t0013g0037 a0001c0005t0001g0163 a0001c0002t0013g0037 a0001c0005t0001g0163	2	37	0.0541	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	92	0.0217	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 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0115 a0001c0001t0035g0095 a0001c0002t0001g0127 others(3): Show a0001c0001t0001g0115 a0001c0001t0035g0095 a0001c0002t0001g0127 a0001c0002t0002g0170 a0001c0004t0001g0182 a0001c0005t0001g0110	6	13	0.4615	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	98	0.0102	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	3	0.3333	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	244	0.0082	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	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	307	0.0391	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	297	0.0067	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	59	0.0678	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	26	0.3462	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	a0001c0001t0007g0112 a0001c0001t0008g0136 a0001c0001t0008g0137 a0001c0001t0007g0112 a0001c0001t0008g0136 a0001c0001t0008g0137	3	51	0.0588	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	69	0.0145	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	11	0.0909	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	260	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	26	0.3077	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	259	0.0039	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	136	0.0074	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	167	0.0120	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	170	0.0294	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	a0001c0001t0004g0072 a0001c0001t0004g0072	1	227	0.0044	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	257	0.0039	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	a0001c0001t0007g0166 a0001c0001t0007g0166	1	194	0.0052	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	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	83	0.0120	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	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0018 a0001c0017t0001g0018	1	22	0.0455	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 a0038 a0015 a0038	a0015c0044 a0038c0048 a0015c0044 a0038c0048	a0015c0044t0001 a0038c0048t0001 a0015c0044t0001 a0038c0048t0001	a0015c0044t0001g0062 a0038c0048t0001g0086 a0015c0044t0001g0062 a0038c0048t0001g0086	2	15	0.1333	20	c.354 others(41): Show c.3544+10080_3544+10099dupATTTATTTATTTATTTATTT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CELSR3_chr3_48631463_48667886	48636070	G G	GGTCAGTG others(13): Show GGTCAGTGCTGTTGGGTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0002 a0011c0015t0002	a0011c0015t0002g0027 a0011c0015t0002g0027	1	203	0.0049	20	c.21 others(31): Show c.2134_*2135insGCCCACCCAACAGCACTGAC	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding		392		chr3	TogoVar
CEMIP2_chr9_71678366_71773513	71683549	C C	CACACACA others(13): Show CACACACACACACACACTCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG03209.hp1 others(3): Show HG02486.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0007 a0002c0008 others(1): Show a0001c0001 a0002c0007 a0002c0008 a0003c0005	a0001c0001t0013 a0002c0007t0013 a0002c0008t0013 others(1): Show a0001c0001t0013 a0002c0007t0013 a0002c0008t0013 a0003c0005t0013	a0001c0001t0013g0223 a0001c0001t0013g0227 a0002c0007t0013g0250 others(3): Show a0001c0001t0013g0223 a0001c0001t0013g0227 a0002c0007t0013g0250 a0002c0008t0013g0077 a0003c0005t0013g0097 a0003c0005t0013g0098	6	37	0.1622	20	c.16 others(31): Show c.1647_*1648insTTGAGTGTGTGTGTGTGTGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	24/24	1647		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71715625	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18986.hp2 NA18941.hp2 NA18986.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0004 a0001c0001t0001 a0006c0006t0004	a0001c0001t0001g0170 a0006c0006t0004g0136 a0001c0001t0001g0170 a0006c0006t0004g0136	2	66	0.0303	20	c.243 others(37): Show c.2436-556_2436-537dupATATATATATATATATATAT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	14/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0002 a0017c0036t0002	a0017c0036t0002g0071 a0017c0036t0002g0071	1	93	0.0108	20	c.204 others(39): Show c.2049+1613_2049+1614insTATATATAGAGAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728273	A A	ATACGTAT others(13): Show ATACGTATATATATATATACG	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0175 a0004c0003t0001g0175	1	297	0.0034	20	c.204 others(39): Show c.2049+1571_2049+1572insCGTATATATATATATACGTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71732686	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0018 a0001c0013t0018	a0001c0013t0018g0030 a0001c0013t0018g0030	1	21	0.0476	20	c.139 others(37): Show c.1394-186_1394-167dupAAAAAAAAAAAAAAAAAAAA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	6/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71755346	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02647.hp2 others(2): Show HG02280.hp1 HG02572.hp2 HG02647.hp2 HG03041.hp1 HG04204.hp1	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0002 a0002c0007 a0002c0008 others(2): Show a0002c0002 a0002c0007 a0002c0008 a0006c0039 a0007c0018	a0002c0002t0014 a0002c0007t0003 a0002c0008t0003 others(2): Show a0002c0002t0014 a0002c0007t0003 a0002c0008t0003 a0006c0039t0007 a0007c0018t0004	a0002c0002t0014g0053 a0002c0007t0003g0235 a0002c0008t0003g0090 others(2): Show a0002c0002t0014g0053 a0002c0007t0003g0235 a0002c0008t0003g0090 a0006c0039t0007g0091 a0007c0018t0004g0272	5	19	0.2632	20	c.-12 others(37): Show c.-12-4981_-12-4962dupGTGTGTGTGTGTGTGTGTGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar

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