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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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
CDKAL1_chr6_20529457_21237404	20992208	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0017 a0001c0004t0018g0017	1	196	0.0051	36	c.910 others(53): Show c.910-8016_910-8015insATATATATATATATATATATATATATAT ATATGTAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20992208	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	196	0.0051	36	c.910 others(53): Show c.910-8016_910-8015insATATATATATATATATATATATATATAT GTATGTAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(29): Show AATATATATATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG01243.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0007 a0001c0001t0025g0021 a0001c0001t0001g0007 a0001c0001t0025g0021	2	196	0.0102	36	c.105 others(55): Show c.1055+2986_1055+2987insCATATATATATATATATATATATATA TATATATATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19007.hp1 HG04204.hp1 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0005 a0002c0003t0002 a0002c0003t0005	a0002c0003t0002g0013 a0002c0003t0005g0081 a0002c0003t0002g0013 a0002c0003t0005g0081	2	196	0.0102	36	c.105 others(55): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATATATATA	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(29): Show TATATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp2 HG02723.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0007 a0001c0001t0026 a0001c0002t0007	a0001c0001t0026g0001 a0001c0002t0007g0187 a0001c0001t0026g0001 a0001c0002t0007g0187	2	196	0.0102	36	c.105 others(55): Show c.1055+3000_1055+3001insTATATACACACACACACACACACACA CACACACACA	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(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp1 NA20300.hp1 HG02055.hp2 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0002 a0001c0012t0022 a0001c0001t0001 a0001c0002t0002 a0001c0012t0022	a0001c0001t0001g0096 a0001c0002t0002g0041 a0001c0012t0022g0135 a0001c0001t0001g0096 a0001c0002t0002g0041 a0001c0012t0022g0135	3	196	0.0153	36	c.105 others(55): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATATACACA	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(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0030 a0002c0007t0030	a0002c0007t0030g0025 a0002c0007t0030g0025	1	196	0.0051	36	c.105 others(55): Show c.1055+3000_1055+3001insTATATATATATATATATATATATATA TATATATACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50380802	C C	CTTTGGTT others(29): Show CTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0145 a0007c0007t0145	a0007c0007t0145g0304 a0007c0007t0145g0304	1	306	0.0033	36	c.168 others(55): Show c.168+14898_168+14899insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACCAAA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(29): Show GCACGCGCGCGCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0181 a0001c0001t0029g0181	1	192	0.0052	36	c.65- others(51): Show c.65-1620_65-1619insGCGCGCGCGCGCACACACACACACACACAC ACACAC	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(29): Show GCACGCGCGCGCGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	192	0.0052	36	c.65- others(51): Show c.65-1620_65-1619insGCGCGCGCGCGCGCACACACACACACACAC ACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN1A_chr6_36673714_36692332	36681264	T T	TTTTCTTT others(29): Show TTTTCTTTCTCTCTTTCTTTCCTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18940.hp1 NA18986.hp1 HG02523.hp1 NA18940.hp1 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0269 a0001c0001t0001g0333 a0002c0002t0002g0206 a0001c0001t0001g0269 a0001c0001t0001g0333 a0002c0002t0002g0206	3	454	0.0066	36	c.-6+ others(51): Show c.-6+2475_-6+2476insCTCTTTCTTTCCTTCTTTCTTTCTTTCTTT CTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0001 a0006c0003t0001	a0006c0003t0001g0091 a0006c0003t0001g0091	1	416	0.0024	36	c.151 others(51): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0324 a0001c0001t0008g0324	1	404	0.0025	36	c.194 others(51): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981092	G G	GTATATAT others(29): Show GTATATATATACGTGTATATATATATATACGTGTATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	404	0.0025	36	c.194 others(53): Show c.194-9920_194-9885dupTATACACGTATATATATATATACACGTA TATATATA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp2 HG03486.hp1 others(3): Show HG00639.hp2 HG01256.hp2 HG03486.hp1 NA18978.hp1 NA18990.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0224 others(3): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0224 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0387	6	404	0.0149	36	c.193 others(53): Show c.193+3492_193+3527dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDON_chr11_125951821_126067866	125974378	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	334	0.0030	36	c.335 others(55): Show c.3356+3925_3356+3926insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125974382	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG02615.hp2 others(2): Show HG01243.hp1 HG01358.hp2 HG02615.hp2 HG03486.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0020 a0005c0010t0016 a0001c0001t0020 a0005c0010t0016	a0001c0001t0020g0230 a0005c0010t0016g0008 a0005c0010t0016g0015 others(2): Show a0001c0001t0020g0230 a0005c0010t0016g0008 a0005c0010t0016g0015 a0005c0010t0016g0033 a0005c0010t0016g0037	5	334	0.0150	36	c.335 others(55): Show c.3356+3921_3356+3922insCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	125974402	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0017 a0002c0003t0005g0017	1	334	0.0030	36	c.335 others(55): Show c.3356+3901_3356+3902insTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	430	0.0023	36	c.20 others(47): Show c.2024_*2025insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	384	0.0026	36	c.810 others(51): Show c.810+277_810+278insGCCTGCCTGCCTGCCTGCCTTCCTTCCTTC CTTCCT	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA21309.hp1 NA18955.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0133 a0001c0001t0031g0048 a0001c0001t0001g0133 a0001c0001t0031g0048	2	384	0.0052	36	c.810 others(51): Show c.810+277_810+278insGCCTGCCTGCCTGCCTTCCTTCCTTCCTTC CTTCCT	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19000.hp2 HG02572.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0158 a0001c0001t0004g0359 a0001c0001t0001g0158 a0001c0001t0004g0359	2	384	0.0052	36	c.810 others(51): Show c.810+277_810+278insGCCTGCCTGCCTTCCTTCCTTCCTTCCTTC CTTCCT	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01981.hp1 HG03239.hp2 others(2): Show HG01074.hp2 HG01981.hp1 HG03239.hp2 HG03927.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0056 a0001c0001t0001g0113 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0027g0111	5	384	0.0130	36	c.810 others(51): Show c.810+277_810+278insGCCTGCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS1_chr4_84578127_84656334	84635688	T T	TTCCTTCC others(29): Show TTCCTTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	384	0.0026	36	c.810 others(51): Show c.810+340_810+341insTTCCTTCCTTCCTTCCCTCCTTCCCTCCCT CCCTCC	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDS2_chr20_5122008_5202887	5163408	T T	TGGGCCAC others(29): Show TGGGCCACCACTCCCTGCTAATTTTGTGTTTTTAGTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01069.hp2 others(27): Show HG00408.hp1 HG00597.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01256.hp1 HG01258.hp2 HG01891.hp1 HG02135.hp2 HG03017.hp1 HG03239.hp2 NA18942.hp2 NA18944.hp2 NA18952.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp1 NA18987.hp2 NA18993.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19070.hp2 NA19074.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0048 others(4): Show a0001c0002t0004 a0001c0002t0010 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0054	a0001c0002t0004g0061 a0001c0002t0004g0064 a0001c0002t0004g0088 others(27): Show a0001c0002t0004g0061 a0001c0002t0004g0064 a0001c0002t0004g0088 a0001c0002t0004g0110 a0001c0002t0004g0111 a0001c0002t0004g0112 a0001c0002t0004g0114 a0001c0002t0004g0115 a0001c0002t0004g0116 a0001c0002t0004g0213 a0001c0002t0004g0216 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0237 a0001c0002t0004g0239 a0001c0002t0004g0277 a0001c0002t0004g0279 a0001c0002t0004g0286 a0001c0002t0004g0287 a0001c0002t0010g0109 a0001c0002t0010g0113 a0001c0002t0010g0214 a0001c0002t0010g0215 a0001c0002t0010g0289 a0001c0002t0048g0208 a0001c0002t0049g0236 a0001c0002t0050g0235 a0001c0002t0051g0238 a0001c0002t0054g0234	30	348	0.0862	36	c.58- others(53): Show c.58-10113_58-10078dupGGCCACCACTCCCTGCTAATTTTGTGTT TTTAGTAG	CDS2	ENSG00000101290.14	transcript	ENST00000460006.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0115 a0001c0001t0005g0115	1	386	0.0026	36	c.317 others(53): Show c.317+1749_317+1750insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDYL_chr6_4771404_4960544	4852543	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCAATCTTCCTTCCTTCCTTCCAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0128 a0001c0012t0001g0128	1	250	0.0040	36	c.25- others(53): Show c.25-39157_25-39156insAATCTTCCTTCCTTCCTTCCAATCTTCC TTCCTTCC	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	250	0.0040	36	c.691 others(53): Show c.691+8401_691+8402insGTGTGTGTATATATATATATATATATAT ATATATAT	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(29): Show GTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0117	1	250	0.0040	36	c.691 others(53): Show c.691+8401_691+8402insGTGTGTGTGTGTGTATATATATATATAT ATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44679549	A A	AAGAGAAG others(29): Show AAGAGAAGAAAAAAACCTCGCCCTAGCTCGTCCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0071 a0001c0001t0011g0071	1	390	0.0026	36	c.659 others(51): Show c.659+613_659+614insAGAGAAGAAAAAAACCTCGCCCTAGCTCGT CCCCCC	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding	4/7			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518079	G G	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG02622.hp2 HG02895.hp2 HG02897.hp2 NA18973.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0006c0010 a0010c0017 a0001c0001 a0006c0010 a0010c0017	a0001c0001t0001 a0006c0010t0001 a0010c0017t0001 a0001c0001t0001 a0006c0010t0001 a0010c0017t0001	a0001c0001t0001g0133 a0006c0010t0001g0114 a0006c0010t0001g0115 others(1): Show a0001c0001t0001g0133 a0006c0010t0001g0114 a0006c0010t0001g0115 a0010c0017t0001g0354	4	438	0.0091	36	c.103 others(53): Show c.1031-856_1031-855insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518103	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	438	0.0023	36	c.103 others(53): Show c.1031-880_1031-879insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CELF2_chr10_11012872_11341675	11148843	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0066 a0001c0004t0027g0066	1	194	0.0052	36	c.75- others(53): Show c.75-16612_75-16611insCACACACACACACACACACACACACACA CACACACA	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(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01175.hp2 others(3): Show HG00140.hp2 HG00639.hp1 HG01175.hp2 HG03704.hp1 HG04184.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0003t0024	a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0006g0118 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0006g0118 a0001c0002t0002g0101 a0001c0002t0003g0078 a0001c0003t0024g0142	6	194	0.0309	36	c.272 others(55): Show c.272-20365_272-20364insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF3_chr1_151695058_151721803	151696498	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCGTTCTTTCGTTCTTTCGTTCTTTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	432	0.0023	36	c.69 others(47): Show c.6960_*6961insCGAAAGAACGAAAGAACGAAAGAACGAAAGAAAG AA	CELF3	ENSG00000159409.15	transcript	ENST00000290583.9	protein_coding		3559		chr1	TogoVar
CELSR1_chr22_46356174_46542620	46358945	C C	CTTCCCGA others(29): Show CTTCCCGAGGCCCTGAGCTGGTTTCAAACACCCTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0042 a0007c0023t0001g0042	1	104	0.0096	36	c.42 others(47): Show c.4277_*4278insCTCAGGGTGTTTGAAACCAGCTCAGGGCCTCGGG AA	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding		2228		chr22	TogoVar
CELSR3_chr3_48631463_48667886	48638651	G G	GTGCGACT others(29): Show GTGCGACTCCAGAGCCTGGACCCCTGCTCAGTCCCTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02970.hp2 others(3): Show HG01891.hp1 HG02109.hp2 HG02970.hp2 HG03130.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0007 a0001c0001t0001g0069	6	206	0.0291	36	c.991 others(53): Show c.9912-455_9912-420dupTAGGGACTGAGCAGGGGTCCAGGCTCTG GAGTCGCA	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding	34/34			chr3	TogoVar
CEMIP2_chr9_71678366_71773513	71728302	C C	CGTATATA others(29): Show CGTATATATATATATATATATATACGTATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03942.hp2 HG03688.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0278 a0001c0001t0005g0260 a0001c0001t0002g0278 a0001c0001t0005g0260	2	320	0.0063	36	c.204 others(55): Show c.2049+1542_2049+1543insATATATATATACGTATATATATATAT ATATATATAC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA18948.hp1 HG03490.hp2 HG03492.hp1 NA18948.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0003 a0003c0003t0001g0115 a0002c0002t0001g0003 a0003c0003t0001g0115	3	320	0.0094	36	c.672 others(51): Show c.6721-65_6721-64insTATATATATATATATATATATATATATATA TATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPJ_chr13_24877279_24927861	24881813	T T	TATCTATA others(29): Show TATCTATATAGATACATCTATATAGATATATAGATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0016 a0002c0003t0003g0016	1	440	0.0023	36	c.13 others(47): Show c.1363_*1364insGTATCTATATATCTATATAGATGTATCTATATAG AT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		465		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881838	A A	ATATATAG others(29): Show ATATATAGATACATCTATATAGATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0003	1	440	0.0023	36	c.13 others(47): Show c.1338_*1339insGATGTATCTATATATCTATATAGATGTATCTATA TA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		440		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTATATAT others(29): Show CTATATATAGATACATCTATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0045 a0009c0012t0001g0045	1	440	0.0023	36	c.11 others(47): Show c.1196_*1197insTATAGATGTATCTATATATAGATGTATCTATATA TA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		298		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881984	A A	ATAGATAG others(29): Show ATAGATAGATACATCTATATAGATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	440	0.0023	36	c.11 others(47): Show c.1192_*1193insGATGTATCTATATATCTATATAGATGTATCTATC TA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		294		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882111	G G	GATATATA others(29): Show GATATATAGATACATCTATATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0011 a0007c0009t0011	a0007c0009t0011g0061 a0007c0009t0011g0061	1	440	0.0023	36	c.10 others(47): Show c.1065_*1066insATAGATGTATCTATATATATAGATGTATCTATAT AT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		167		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882117	T T	TACATCTA others(29): Show TACATCTATATAGATATATAGATACATCTATATAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02165.hp2 NA18950.hp1 others(2): Show HG02015.hp1 HG02165.hp2 NA18950.hp1 NA18965.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0060 a0001c0001t0008g0277 others(1): Show a0001c0001t0008g0058 a0001c0001t0008g0060 a0001c0001t0008g0277 a0001c0001t0008g0278	5	440	0.0114	36	c.10 others(47): Show c.1059_*1060insGTCTATATAGATGTATCTATATATCTATATAGAT GT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		161		chr13	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTAT others(29): Show GTGTGTATACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19240.hp2 HG02647.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0133 a0001c0001t0011g0233 a0001c0001t0006g0133 a0001c0001t0011g0233	2	260	0.0077	36	c.467 others(53): Show c.467+6719_467+6720insGTGTATACATATATATATATATATATAT ATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0145 a0001c0001t0031g0145	1	260	0.0039	36	c.467 others(53): Show c.467+6719_467+6720insGTGTGTGTGTATACATATATATATATAT ATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92551940	T T	TGATATAT others(29): Show TGATATATATATATGATATATATATGATATATATATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19001.hp2 NA18995.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0016 a0001c0001t0005g0008 a0001c0001t0005g0016	2	260	0.0077	36	c.565 others(55): Show c.565-59374_565-59373insGATATATATATATGATATATATATGA TATATATATG	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7			chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0088 a0001c0001t0013g0088	1	260	0.0039	36	c.565 others(55): Show c.565-43918_565-43917insTATATAGATATATATATATATATATA TATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPP_chr9_92320953_92625529	92567373	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATAGATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0260 a0001c0001t0013g0260	1	260	0.0039	36	c.565 others(55): Show c.565-43918_565-43917insTATATATAGATATATATATATATATA TATATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar

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