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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CSNK2A1_chr20_467498_548790	485101	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0229 a0001c0001t0009g0229	1	316	0.0032	22	c.106 others(41): Show c.1061-1026_1061-1025insATATATATATATATATATATAT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171958	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18991.hp2 HG00558.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0288 a0001c0001t0001g0248 a0001c0001t0001g0288	2	400	0.0050	22	c.429 others(39): Show c.429+2471_429+2492dupATATATATATATATATATATAT		CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11						chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88418463	T T	TGTGCGCG others(15): Show TGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0383 a0002c0024t0002g0383	1	386	0.0026	22	c.-27 others(43): Show c.-270-46624_-270-46623insTGCGCGCGCGCGCGCGCGCGCG		CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88418463	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0200 a0002c0011t0001g0200	1	386	0.0026	22	c.-27 others(43): Show c.-270-46624_-270-46623insTGTGTGTGTGTGTGCGCGCGCG		CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88449870	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0324 a0005c0007t0002g0324	1	386	0.0026	22	c.-27 others(43): Show c.-270-15217_-270-15216insGAGAGAGAGAGAGAGAGAGAGA		CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88449874	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02040.hp1 HG02080.hp2 others(17): Show HG01943.hp1 HG02040.hp1 HG02080.hp2 HG02300.hp1 HG03654.hp2 HG03927.hp2 HG04228.hp1 NA18747.hp2 NA18952.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18979.hp2 NA19003.hp2 NA19056.hp2 NA19060.hp2 NA19068.hp1 NA19081.hp2 NA19090.hp2	a0001 a0011 a0020 others(1): Show a0001 a0011 a0020 a0021	a0001c0001 a0011c0013 a0020c0018 others(1): Show a0001c0001 a0011c0013 a0020c0018 a0021c0021	a0001c0001t0001 a0001c0001t0002 a0011c0013t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0011c0013t0002 a0020c0018t0002 a0021c0021t0002	a0001c0001t0001g0145 a0001c0001t0001g0181 a0001c0001t0001g0194 others(17): Show a0001c0001t0001g0145 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0002g0251 a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0350 a0001c0001t0002g0352 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0361 a0001c0001t0002g0365 a0001c0001t0002g0368 a0011c0013t0002g0334 a0020c0018t0002g0344 a0021c0021t0002g0292	20	386	0.0518	22	c.-27 others(43): Show c.-270-15194_-270-15193insAGAGAGAGAGAGAGAGAGAGAG		CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88449874	T T	TATATATA others(15): Show TATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0283 a0002c0002t0002g0283	1	386	0.0026	22	c.-27 others(43): Show c.-270-15213_-270-15212insTATATATAGAGAGAGAGAGAGA		CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88449874	T T	TATATATA others(15): Show TATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0282 a0002c0002t0002g0282	1	386	0.0026	22	c.-27 others(43): Show c.-270-15213_-270-15212insTATATATATAGAGAGAGAGAGA		CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPP1_chr8_67059392_67201614	67083548	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0033 a0002c0004t0003g0033	1	158	0.0063	22	c.200 others(39): Show c.200-2458_200-2457insAAAAAAAAAAAAAATATATATA		CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67083548	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0034 a0002c0004t0003g0034	1	158	0.0063	22	c.200 others(39): Show c.200-2458_200-2457insAAAAAAAAAAAATATATATATA		CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165477483	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0069 a0001c0001t0090g0069	1	246	0.0041	22	c.-28 others(41): Show c.-283+7758_-283+7759insTATATATATATATATATATATA		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165674681	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0192 a0001c0001t0032g0192	1	246	0.0041	22	c.409 others(39): Show c.409-1619_409-1598dupTATATATATATATATATATATA		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRP3_chr11_19177030_19206983	19197563	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	416	0.0024	22	c.-29 others(39): Show c.-29+4390_-29+4391insAAGAAAGAAAGAAAGAAAGAAA		CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5						chr11	TogoVar
CST8_chr20_23486117_23501010	23490278	A A	ATATATAT others(15): Show ATATATATAAAATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp1 others(49): Show HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG01074.hp2 HG01175.hp2 HG01261.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02293.hp1 HG02602.hp2 HG02738.hp1 HG03942.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18988.hp2 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19070.hp1 NA19079.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020	52	440	0.1182	22	c.-12 others(33): Show c.-1208_-1207insTATATATAAAATATATATAAAT		CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding					838		chr20	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02818.hp2 others(6): Show HG01884.hp2 HG02630.hp2 HG02818.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0045 a0001c0001t0088 a0001c0001t0009 a0001c0001t0045 a0001c0001t0088	a0001c0001t0009g0001 a0001c0001t0009g0005 a0001c0001t0009g0015 others(3): Show a0001c0001t0009g0001 a0001c0001t0009g0005 a0001c0001t0009g0015 a0001c0001t0009g0032 a0001c0001t0045g0010 a0001c0001t0088g0083	9	422	0.0213	22	c.10 others(33): Show c.1090_*1111dupTTTTTTTTTTTTTTTTTTTTTT		CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6				1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CSTF2T_chr10_51690486_51704595	51699393	T T	TCCTCCCC others(15): Show TCCTCCCCCCCCCCCCCCCCCCC	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0000 a0004c0021t0001g0000	1	428	0.0023	22	c.156 others(29): Show c.156_157insGGGGGGGGGGGGGGGGGGGAGG	p.Thr others(4): Show p.Thr53fs	CSTF2T	ENSG00000177613.9	transcript	ENST00000331173.6	protein_coding	1/1	202/4110	156/1851	52/616			chr10	TogoVar
CSTF3_chr11_33079584_33166480	33166264	A A	ATGTAAGT others(15): Show ATGTAAGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA18955.hp1 NA18957.hp1 others(4): Show HG02080.hp2 NA18955.hp1 NA18957.hp1 NA18980.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0049 others(4): Show a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0081	7	360	0.0194	22	c.-49 others(33): Show c.-4940_-4939insCACACACACACACACACTTACA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding					4785		chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47036034	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	224	0.0045	22	c.150 others(41): Show c.150-16353_150-16332dupATATATATATATATATATATAT		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47065977	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	224	0.0045	22	c.280 others(41): Show c.280+13463_280+13484dupGTGTGTGTGTGTGTGTGTGTGT		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47122091	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	224	0.0045	22	c.281 others(41): Show c.281-15553_281-15552insAAAAAAAAAATATATATATATA		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CT45A1_chrX_135708639_135728228	135712996	C C	CCTTCCTT others(15): Show CCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18990.hp1 NA19000.hp1 others(2): Show NA18945.hp1 NA18990.hp1 NA19000.hp1 NA19006.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0027 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0003g0007	5	57	0.0877	22	c.-70 others(31): Show c.-701_-700insCTTCCTTCCTTCCTTCCTTCCT		CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding					642		chrX	TogoVar
CT45A3_chrX_135755044_135773191	135759370	A A	ATATATAT others(15): Show ATATATATATATACCATATATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	160	0.0063	22	c.98 others(31): Show c.981_*982insCCATATATGGTATATATATATA		CT45A3	ENSG00000269096.7	transcript	ENST00000598716.3	protein_coding					673		chrX	TogoVar
CTBP1_chr4_1206445_1254130	1245644	C C	CGGGCAGG others(15): Show CGGGCAGGGTGACACGGGCGGCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18981.hp1 NA19010.hp1 HG00423.hp2 NA18981.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0159 a0001c0001t0002g0351 a0001c0001t0003g0160 a0001c0001t0002g0159 a0001c0001t0002g0351 a0001c0001t0003g0160	3	422	0.0071	22	c.-18 others(41): Show c.-189+3250_-189+3271dupTGCCGCCCGTGTCACCCTGCCC		CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	1/9						chr4	TogoVar
CTBP2_chr10_124979317_125033071	124986281	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0105 a0011c0018t0105	a0011c0018t0105g0308 a0011c0018t0105g0308	1	380	0.0026	22	c.32 others(33): Show c.3236_*3237insTGTGTGTGTGTGTGTGTGTGTG		CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	9/9				3236		chr10	TogoVar
CTDSPL2_chr15_44422629_44534038	44506412	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0050 a0001c0002t0005g0050	1	234	0.0043	22	c.969 others(39): Show c.969+6620_969+6621insTTTTTTTTTTTTTTTTTTTTTT		CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CTH_chr1_70406268_70444851	70410732	A A	AAACGCAA others(15): Show AAACGCAAGCTGTGACTGATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	424	0.0024	22	c.-68 others(31): Show c.-684_-683insAACGCAAGCTGTGACTGATGAG		CTH	ENSG00000116761.12	transcript	ENST00000370938.8	protein_coding					535		chr1	TogoVar
CTIF_chr18_48534031_48868217	48568633	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0094 a0001c0001t0054g0094	1	144	0.0069	22	c.-29 others(41): Show c.-29+29335_-29+29356dupAAAAAAAAAAAAAAAAAAAAAA		CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48648490	C C	CACACACG others(15): Show CACACACGCACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0119 a0001c0001t0048g0119	1	144	0.0069	22	c.252 others(41): Show c.252+11811_252+11812insGCACACACACACACAAACACAC		CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA1_chr5_138748425_138940034	138748904	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0029	1	180	0.0056	22	c.-46 others(33): Show c.-4609_-4608insTGTGTGTGTGTGTGTGTGTGTG		CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding					4520		chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79536574	A A	AGTATGTG others(15): Show AGTATGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	68	0.0147	22	c.-6+ others(39): Show c.-6+23369_-6+23370insATGTGTGTGTGTGTGTGTGTGT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79563161	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0068 a0001c0007t0001g0068	1	68	0.0147	22	c.-6+ others(39): Show c.-6+49960_-6+49981dupATATATATATATATATATATAT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79814638	C C	CACACACA others(15): Show CACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 HG02109.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	68	0.0294	22	c.299 others(41): Show c.299-43374_299-43373insCACACACACACACACACATATA		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79818821	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01167.hp1 HG03041.hp2 others(3): Show HG00673.hp1 HG01167.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0002c0006t0001 a0002c0008t0001	a0001c0001t0001g0052 a0001c0002t0001g0035 a0001c0003t0002g0044 others(3): Show a0001c0001t0001g0052 a0001c0002t0001g0035 a0001c0003t0002g0044 a0001c0004t0001g0006 a0002c0006t0001g0060 a0002c0008t0001g0002	6	68	0.0882	22	c.299 others(41): Show c.299-39191_299-39190insTTATATATATATATATATATAT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79844979	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	68	0.0147	22	c.299 others(41): Show c.299-13032_299-13011dupCACACACACACACACACACACA		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80245794	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	68	0.0147	22	c.105 others(45): Show c.1057-147409_1057-147388dupTTTTTTTTTTTTTTTTTTTTTT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80569633	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG03486.hp1 others(1): Show HG01106.hp1 HG02145.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0002g0041 a0001c0001t0002g0057 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0041 a0001c0001t0002g0057 a0001c0003t0001g0013	4	68	0.0588	22	c.174 others(41): Show c.1742-4524_1742-4503dupTTTTTTTTTTTTTTTTTTTTTT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80639535	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	68	0.0147	22	c.257 others(41): Show c.2575-8045_2575-8044insGTGTGTGTGTGTGTGTCTGTGT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66042899	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0032 a0001c0003t0011g0032	1	46	0.0217	22	c.215 others(43): Show c.2159+26387_2159+26408dupTTTTTTTTTTTTTTTTTTTTTT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66154719	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG02145.hp2 others(10): Show HG01070.hp1 HG01243.hp2 HG02145.hp2 HG02280.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03540.hp1 HG06807.hp1 NA18612.hp1 NA18960.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0003c0009 a0004c0008	a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 others(9): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0003t0014 a0001c0004t0001 a0001c0005t0010 a0002c0002t0004 a0002c0002t0005 a0003c0009t0003 a0004c0008t0005	a0001c0001t0005g0010 a0001c0001t0012g0038 a0001c0001t0016g0003 others(10): Show a0001c0001t0005g0010 a0001c0001t0012g0038 a0001c0001t0016g0003 a0001c0001t0021g0012 a0001c0001t0024g0044 a0001c0003t0014g0025 a0001c0004t0001g0018 a0001c0005t0010g0029 a0001c0005t0010g0034 a0002c0002t0004g0028 a0002c0002t0005g0014 a0003c0009t0003g0036 a0004c0008t0005g0033	13	46	0.2826	22	c.188 others(43): Show c.1885-51492_1885-51471dupATATATATATATATATATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66189600	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0002 a0001c0003t0008g0002	1	46	0.0217	22	c.188 others(43): Show c.1885-86352_1885-86351insTATATATATATATATATATATA		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66328903	C C	CATATATA others(15): Show CATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	46	0.0217	22	c.173 others(43): Show c.1733-48304_1733-48283dupATATATATATATATGTATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66328911	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02280.hp2 NA18612.hp2 others(1): Show HG01081.hp1 HG02280.hp2 NA18612.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0016 a0001c0001t0023 others(1): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0023 a0002c0002t0002	a0001c0001t0004g0043 a0001c0001t0016g0003 a0001c0001t0023g0011 others(1): Show a0001c0001t0004g0043 a0001c0001t0016g0003 a0001c0001t0023g0011 a0002c0002t0002g0013	4	46	0.0870	22	c.173 others(43): Show c.1733-48312_1733-48291dupATATATATATATATATATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66328933	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0036 a0003c0009t0003g0036	1	46	0.0217	22	c.173 others(43): Show c.1733-48313_1733-48312insGTGTATATATATATATATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66328933	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02647.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0009 a0001c0006t0001 a0001c0001t0009 a0001c0006t0001	a0001c0001t0009g0031 a0001c0006t0001g0001 a0001c0001t0009g0031 a0001c0006t0001g0001	2	46	0.0435	22	c.173 others(43): Show c.1733-48313_1733-48312insGTATATATATATATATATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0018	1	46	0.0217	22	c.153 others(43): Show c.1532-42546_1532-42545insATATATATATATATATATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66712606	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	46	0.0217	22	c.128 others(43): Show c.1281+53657_1281+53658insTGTGTGTGTGTGTGTGTGTGTG		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66978544	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	46	0.0217	22	c.104 others(45): Show c.1047+201772_1047+201773insATATATATATATATATATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66999513	A A	AGCTTCAA others(15): Show AGCTTCAATCACTATTGTCTCTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18964.hp1 NA18960.hp2 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0017 a0002c0002t0003 a0002c0002t0017	a0002c0002t0003g0042 a0002c0002t0017g0040 a0002c0002t0003g0042 a0002c0002t0017g0040	2	46	0.0435	22	c.104 others(45): Show c.1047+180782_1047+180803dupGAGAGACAATAGTGATTGAAGC		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67114709	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 HG02647.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0011 a0002c0002t0026 a0001c0003t0011 a0002c0002t0026	a0001c0003t0011g0032 a0002c0002t0026g0046 a0001c0003t0011g0032 a0002c0002t0026g0046	2	46	0.0435	22	c.104 others(43): Show c.1047+65586_1047+65607dupACACACACACACACACACACAC		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17						chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(15): Show TATATATATATATATATTTATAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	46	0.0217	22	c.104 others(43): Show c.1047+46988_1047+46989insGTATAAATATATATATATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17						chr10	TogoVar

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