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
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp1 others(2): Show HG00140.hp1 HG00140.hp2 HG00544.hp1 HG02257.hp1 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0010 a0001c0002t0003 a0001c0008t0011 others(1): Show a0001c0001t0010 a0001c0002t0003 a0001c0008t0011 a0002c0003t0005	a0001c0001t0010g0109 a0001c0002t0003g0150 a0001c0002t0003g0184 others(2): Show a0001c0001t0010g0109 a0001c0002t0003g0150 a0001c0002t0003g0184 a0001c0008t0011g0181 a0002c0003t0005g0112	5	63	0.0794	22	c.105 others(41): Show c.1055+3000_1055+3001insTATATATATATATATATACACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0118 a0001c0002t0003g0118	1	59	0.0169	22	c.105 others(41): Show c.1055+3000_1055+3001insTATATATATATATATATATACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21079976	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG02109.hp1 others(13): Show HG01361.hp2 HG01891.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02723.hp2 HG02965.hp1 HG03017.hp1 HG06807.hp2 NA18950.hp2 NA18978.hp1 NA18983.hp1 NA18990.hp1 NA19002.hp1 NA19007.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0027 a0001c0001t0035 a0001c0002t0002 a0001c0002t0016 a0001c0005t0004 a0001c0006t0002 a0001c0006t0039 a0002c0007t0036	a0001c0001t0001g0007 a0001c0001t0002g0139 a0001c0001t0002g0163 others(13): Show a0001c0001t0001g0007 a0001c0001t0002g0139 a0001c0001t0002g0163 a0001c0001t0003g0116 a0001c0001t0006g0179 a0001c0001t0008g0117 a0001c0001t0019g0145 a0001c0001t0019g0148 a0001c0001t0027g0180 a0001c0001t0035g0161 a0001c0002t0002g0049 a0001c0002t0016g0044 a0001c0005t0004g0033 a0001c0006t0002g0157 a0001c0006t0039g0091 a0002c0007t0036g0024	16	37	0.4324	22	c.123 others(43): Show c.1236+14760_1236+14781dupGTGTGTGTGTGTGTGTGTGTGT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL4_chr2_39170646_39248970	39226456	T T	TTATATAT others(15): Show TTATATATATTATATATATATTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	285	0.0035	22	c.169 others(37): Show c.169-497_169-496insTAATATATATATAATATATATA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	2/9			chr2	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(15): Show GCACGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0170 a0001c0001t0012g0170	1	62	0.0161	22	c.65- others(37): Show c.65-1620_65-1619insGCGCGCACACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(15): Show GCACGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	62	0.0161	22	c.65- others(37): Show c.65-1620_65-1619insGCGCGCGCGCACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(15): Show GCACGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18974.hp1 NA18941.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0029 a0001c0001t0025 a0001c0001t0029	a0001c0001t0025g0173 a0001c0001t0029g0172 a0001c0001t0025g0173 a0001c0001t0029g0172	2	63	0.0317	22	c.65- others(37): Show c.65-1620_65-1619insGCGCGCGCGCGCACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18626661	C C	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG04228.hp1 HG00597.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0004t0002 a0001c0001t0008 a0001c0004t0002	a0001c0001t0008g0155 a0001c0004t0002g0006 a0001c0001t0008g0155 a0001c0004t0002g0006	2	55	0.0364	22	c.249 others(41): Show c.2496+1456_2496+1477dupTCTCTCTCTCTCTCTCTCTCTC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG01175.hp2 others(1): Show HG00642.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	4	70	0.0571	22	c.151 others(37): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG01175.hp2 others(1): Show HG00642.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0281 a0001c0001t0002g0302 a0001c0001t0002g0010 a0001c0001t0002g0281 a0001c0001t0002g0302	4	65	0.0615	22	c.194 others(37): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00738.hp1 others(26): Show HG00544.hp1 HG00597.hp1 HG00738.hp1 HG01071.hp1 HG01255.hp1 HG01515.hp2 HG01928.hp1 HG02132.hp1 HG02257.hp2 HG02698.hp2 HG02895.hp1 HG03041.hp1 HG03516.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18946.hp2 NA18949.hp2 NA18969.hp1 NA18970.hp2 NA18981.hp2 NA19005.hp2 NA19007.hp2 NA19056.hp1 NA19060.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0031 others(26): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0136 a0001c0001t0001g0163 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0380 a0001c0001t0001g0385 a0001c0001t0002g0196 a0001c0001t0002g0312 a0001c0001t0002g0313	29	72	0.4028	22	c.193 others(39): Show c.193+3506_193+3527dupTCTCTCTCTCTCTCTCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02135.hp1 HG02886.hp1 HG02074.hp2 HG02135.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	11	0.2727	22	c.-18 others(33): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDNF_chr10_14814245_14843037	14838151	C C	CGGTTGCG others(15): Show CGGTTGCGCGTGCGCACTGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02109.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0073 a0001c0001t0001g0077	2	416	0.0048	22	c.-22 others(31): Show c.-227_-206dupTGCACAGTGCGCACGCGCAACC	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding		115		chr10	TogoVar
CDON_chr11_125951821_126067866	125958565	A A	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0040 a0002c0012t0040	a0002c0012t0040g0214 a0002c0012t0040g0214	1	71	0.0141	22	c.23 others(33): Show c.2376_*2377insCACACACACACACACACACATA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	20/20	2376		chr11	TogoVar
CDON_chr11_125951821_126067866	126063335	A A	AGGCCCCG others(15): Show AGGCCCCGCCCTAGCCTCGTTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0088 a0014c0032t0088	a0014c0032t0088g0271 a0014c0032t0088g0271	1	330	0.0030	22	c.-81 others(31): Show c.-819_-818insCGAACGAGGCTAGGGCGGGGCC	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		470		chr11	TogoVar
CDRT4_chr17_15431015_15472621	15444714	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG02280.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0006g0047 a0002c0002t0002g0183 a0001c0001t0006g0047 a0002c0002t0002g0183	2	222	0.0090	22	c.-47 others(39): Show c.-47-4451_-47-4430dupCTCTCTCTCTCTCTCTCTCTCT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding	2/3			chr17	TogoVar
CDV3_chr3_133568686_133595261	133594433	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02148.hp2 HG02738.hp2 others(4): Show HG01070.hp1 HG02148.hp2 HG02738.hp2 HG03654.hp1 HG03654.hp2 HG03942.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0084 a0001c0001t0001g0129 a0001c0001t0001g0130	7	16	0.4375	22	c.63 others(33): Show c.6387_*6388insAAAAAAAAAAAAAAAAAAAAAA	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding		4173		chr3	TogoVar
CDYL2_chr16_80592907_80809598	80702183	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0122 a0001c0002t0030g0122	1	186	0.0054	22	c.25- others(39): Show c.25-17076_25-17055dupGTGTGTGTGTGTGTGTGTGTGT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712191	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	41	0.0244	22	c.25- others(39): Show c.25-27084_25-27063dupTATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712191	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0179 a0001c0002t0013g0179	1	41	0.0244	22	c.25- others(39): Show c.25-27063_25-27062insTATATATATATATATATATACA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL2_chr16_80592907_80809598	80712215	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19030.hp1 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0011 a0001c0005t0002 a0001c0005t0011	a0001c0005t0002g0242 a0001c0005t0011g0235 a0001c0005t0002g0242 a0001c0005t0011g0235	2	213	0.0094	22	c.25- others(39): Show c.25-27087_25-27086insCATATATATATATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL_chr6_4771404_4960544	4819162	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0240 a0001c0003t0002g0240	1	201	0.0050	22	c.24+ others(39): Show c.24+42356_24+42357insCTCTCTCTCTCTCTGTGTGTGT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4895385	G G	GCATATAT others(15): Show GCATATATGCATGTATGTATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	183	0.0055	22	c.691 others(39): Show c.691+3006_691+3007insCATATATGCATGTATGTATATA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6			chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03098.hp1 HG02273.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0205 a0001c0001t0002g0247 a0001c0001t0001g0205 a0001c0001t0002g0247	2	61	0.0328	22	c.691 others(39): Show c.691+8401_691+8402insGTGTGTATATATATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp2 HG02559.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0032 a0001c0002t0002g0245 a0001c0001t0002g0032 a0001c0002t0002g0245	2	61	0.0328	22	c.691 others(39): Show c.691+8401_691+8402insGTGTGTGTGTGTGTATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44666991	T T	TGTGCCAC others(15): Show TGTGCCACAAAATACCCCAGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	388	0.0026	22	c.-49 others(33): Show c.-4941_-4940insGTGCCACAAAATACCCCAGCCA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		4490		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518103	A A	AAAGAAAG others(15): Show AAAGAAAGAAAGAAAGAAGAAGG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	179	0.0056	22	c.103 others(39): Show c.1031-880_1031-879insCCTTCTTCTTTCTTTCTTTCTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532167	C C	CCTGTTTG others(15): Show CCTGTTTGAGTTCTTACTGTTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0113 a0007c0008t0001g0113	1	436	0.0023	22	c.-26 others(33): Show c.-2659_-2658insCGAACAGTAAGAACTCAAACAG	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2493		chr19	TogoVar
CEACAM5_chr19_41703626_41735433	41728786	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0101 a0007c0007t0004g0101	1	200	0.0050	22	c.37 others(37): Show c.37-379_*37-378insAAAAAAAAAAAAAAAAAAAAAA	CEACAM5	ENSG00000105388.17	transcript	ENST00000221992.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM8_chr19_42575243_42599924	42581920	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	64	0.0156	22	c.41 others(37): Show c.41-568_*41-567insATATATATATATATATATATTT	CEACAM8	ENSG00000124469.12	transcript	ENST00000244336.10	protein_coding	5/5			chr19	TogoVar
CEBPD_chr8_47731913_47743164	47740915	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	22	c.-27 others(33): Show c.-2796_-2795insTTTTTTTTTTTTTTTTTTTTTT	CEBPD	ENSG00000221869.5	transcript	ENST00000408965.4	protein_coding		2752		chr8	TogoVar
CECR2_chr22_17364460_17563151	17421614	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0139 a0002c0002t0003g0139	1	63	0.0159	22	c.126 others(41): Show c.126+51713_126+51734dupAAAAAAAAAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17428798	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG02615.hp1 others(2): Show HG01192.hp2 HG02055.hp2 HG02615.hp1 NA18960.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0048 a0002c0002t0002	a0001c0001t0002g0160 a0001c0001t0005g0311 a0001c0001t0015g0288 others(2): Show a0001c0001t0002g0160 a0001c0001t0005g0311 a0001c0001t0015g0288 a0001c0001t0048g0263 a0002c0002t0002g0107	5	137	0.0365	22	c.127 others(41): Show c.127-48782_127-48761dupGTGTGTGTGTGTGTGTGTGTGT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17428826	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	315	0.0032	22	c.127 others(41): Show c.127-48761_127-48760insGTGTGTGTGTGTGTGTATATAT	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(15): Show CTGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0287 a0001c0001t0028g0287	1	151	0.0066	22	c.127 others(41): Show c.127-30554_127-30553insGTTTTTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17481046	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0268 a0004c0004t0005g0268	1	300	0.0033	22	c.221 others(39): Show c.221+3364_221+3365insAAAAAAAAAAAAAAAAAAAAAA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	2/18			chr22	TogoVar
CECR2_chr22_17364460_17563151	17524387	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18982.hp1 HG02818.hp1 NA18982.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0006 a0001c0001t0003 a0003c0003t0006	a0001c0001t0003g0059 a0003c0003t0006g0183 a0001c0001t0003g0059 a0003c0003t0006g0183	2	119	0.0168	22	c.110 others(39): Show c.1108+118_1108+139dupTTTTTTTTTTTTTTTTTTTTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp1 HG02145.hp2 others(4): Show HG01261.hp2 HG01358.hp1 HG02145.hp2 HG02280.hp1 HG02300.hp2 HG02738.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0010 a0001c0001t0001g0123 a0001c0001t0001g0158 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0003g0032	7	74	0.0946	22	c.72- others(35): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11025239	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02257.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0149 a0001c0001t0003g0071 a0001c0001t0003g0149	2	67	0.0299	22	c.74+ others(37): Show c.74+7077_74+7078insGTGTGTATATATATATATATAT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11262940	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	3	0.3333	22	c.539 others(39): Show c.539-3652_539-3631dupTTTTTTTTTTTTTTTTTTTTTT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11332118	T T	TCCTTCTT others(15): Show TCCTTCTTCAGTTTTAACGAGTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02257.hp2 others(6): Show HG01891.hp1 HG02055.hp1 HG02257.hp2 HG02486.hp2 HG02965.hp1 HG03139.hp2 HG03579.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0011	a0001c0001t0020 a0001c0001t0021 a0001c0001t0046 others(4): Show a0001c0001t0020 a0001c0001t0021 a0001c0001t0046 a0001c0001t0050 a0001c0004t0047 a0001c0006t0042 a0001c0011t0048	a0001c0001t0020g0076 a0001c0001t0020g0089 a0001c0001t0021g0017 others(6): Show a0001c0001t0020g0076 a0001c0001t0020g0089 a0001c0001t0021g0017 a0001c0001t0021g0022 a0001c0001t0046g0069 a0001c0001t0050g0173 a0001c0004t0047g0156 a0001c0006t0042g0190 a0001c0011t0048g0013	9	192	0.0469	22	c.30 others(33): Show c.3066_*3087dupCCTTCTTCAGTTTTAACGAGTA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	13/13	3088	INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF4_chr18_37238040_37570798	37470890	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	69	0.0145	22	c.369 others(41): Show c.369+14613_369+14634dupCTCTCTCTCTCTCTCTCTCTCT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	2/12			chr18	TogoVar
CELF5_chr19_3219661_3302076	3226440	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01891.hp2 HG02559.hp2 others(1): Show HG01516.hp2 HG01891.hp2 HG02559.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0003t0004	a0001c0001t0002g0012 a0001c0001t0003g0233 a0001c0003t0002g0232 others(1): Show a0001c0001t0002g0012 a0001c0001t0003g0233 a0001c0003t0002g0232 a0001c0003t0004g0134	4	22	0.1818	22	c.259 others(39): Show c.259+1457_259+1478dupCACACACACACACACACACACA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3299578	T T	TTCTTTTC others(15): Show TTCTTTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0239 a0001c0001t0005g0239	1	243	0.0041	22	c.28 others(33): Show c.2861_*2862insTCTTTTCTTCTTCTTCTTCTTC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2503		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46467461	G G	GTGATCCC others(15): Show GTGATCCCATTTTGTGAGGGGGC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0044 a0044	a0044c0067 a0044c0067	a0044c0067t0001 a0044c0067t0001	a0044c0067t0001g0102 a0044c0067t0001g0102	1	102	0.0098	22	c.354 others(41): Show c.3545-3138_3545-3117dupGCCCCCTCACAAAATGGGATCA	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71683549	C C	CACACACA others(15): Show CACACACACACACACACACTCAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 NA19043.hp1 HG02280.hp2 NA19043.hp1	a0001 a0001	a0001c0023 a0001c0026 a0001c0023 a0001c0026	a0001c0023t0025 a0001c0026t0025 a0001c0023t0025 a0001c0026t0025	a0001c0023t0025g0252 a0001c0026t0025g0222 a0001c0023t0025g0252 a0001c0026t0025g0222	2	33	0.0606	22	c.16 others(33): Show c.1647_*1648insTTGAGTGTGTGTGTGTGTGTGT	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	24/24	1647		chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19011.hp2 HG01099.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0070 a0002c0002t0002g0081 a0002c0002t0001g0070 a0002c0002t0002g0081	2	94	0.0213	22	c.204 others(41): Show c.2049+1613_2049+1614insTATATATATATATAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0001 a0002c0034t0001	a0002c0034t0001g0083 a0002c0034t0001g0083	1	93	0.0108	22	c.204 others(41): Show c.2049+1613_2049+1614insTATATATATATAGAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0073 a0002c0002t0052g0073	1	93	0.0108	22	c.204 others(41): Show c.2049+1613_2049+1614insTATATAGAGAGAGAGAGAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728271	A A	ATATACGT others(15): Show ATATACGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03927.hp1 NA18953.hp2 others(2): Show HG02071.hp1 HG03927.hp1 NA18953.hp2 NA18965.hp2 NA19011.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0001c0001t0003 a0006c0006t0004 a0001c0001t0002 a0001c0001t0003 a0006c0006t0004	a0001c0001t0002g0122 a0001c0001t0003g0169 a0001c0001t0003g0192 others(2): Show a0001c0001t0002g0122 a0001c0001t0003g0169 a0001c0001t0003g0192 a0001c0001t0003g0193 a0006c0006t0004g0171	5	280	0.0179	22	c.204 others(41): Show c.2049+1573_2049+1574insCGTATATATATATATACGTATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar

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