Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CTCF_chr16_67557526_67644177	67608018	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19240.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0155 a0001c0001t0002g0157	2	168	0.0119	11	c.-9- others(26): Show c.-9-2801_-9-2791dupAAAAAAAAAAA	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67629746	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01346.hp2 HG00558.hp2 HG00741.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0001 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0082 a0001c0001t0005g0044 a0001c0001t0013g0045 a0001c0001t0001g0082 a0001c0001t0005g0044 a0001c0001t0013g0045	3	168	0.0179	11	c.183 others(28): Show c.1837+249_1837+259dupTTTTTTTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67631154	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02486.hp2 HG06807.hp1 HG01361.hp2 HG02486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0002g0168 a0001c0001t0007g0130 a0001c0001t0009g0154 a0001c0001t0002g0168 a0001c0001t0007g0130 a0001c0001t0009g0154	3	168	0.0179	11	c.183 others(30): Show c.1837+1631_1837+1632insTTTTTTTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTDSP2_chr12_57814927_57851729	57818182	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01934.hp2 HG02004.hp2 others(7): Show HG01517.hp2 HG01934.hp2 HG02004.hp2 HG02071.hp1 HG02135.hp1 HG02148.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0138 a0001c0001t0001g0177	10	346	0.0289	11	c.54 others(22): Show c.5409_*5419dupAAAAAAAAAAA	CTDSP2	ENSG00000175215.11	transcript	ENST00000398073.7	protein_coding		1744		chr12	TogoVar
CTDSPL2_chr15_44422629_44534038	44444836	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp1 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0051 a0001c0001t0011g0052 a0001c0001t0011g0051 a0001c0001t0011g0052	2	234	0.0086	11	c.-24 others(30): Show c.-24-14135_-24-14125dupTTTTTTTTTTT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTDSPL2_chr15_44422629_44534038	44506412	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0021 a0001c0001t0003g0023	2	234	0.0086	11	c.969 others(28): Show c.969+6610_969+6620dupTTTTTTTTTTT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTDSPL2_chr15_44422629_44534038	44521937	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0026 a0001c0001t0009g0026	1	234	0.0043	11	c.133 others(28): Show c.1335+547_1335+557dupAAAAAAAAAAA	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTHRC1_chr8_103366538_103387989	103387256	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG01169.hp1 others(14): Show HG00642.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG03942.hp1 HG04228.hp1 NA18941.hp1 NA18946.hp1 NA18959.hp2 NA18968.hp2 NA18991.hp2 NA18999.hp2 NA19012.hp1 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0018 a0001c0002t0001g0024 others(2): Show a0001c0002t0001g0002 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0044	17	408	0.0417	11	c.46 others(22): Show c.4656_*4657insAAAAAAAAAAA	CTHRC1	ENSG00000164932.13	transcript	ENST00000330295.10	protein_coding		4268		chr8	TogoVar
CTH_chr1_70406268_70444851	70409289	A A	ACAGAGAT others(4): Show ACAGAGATGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0170	1	424	0.0024	11	c.-21 others(22): Show c.-2127_-2126insCAGAGATGAGC	CTH	ENSG00000116761.12	transcript	ENST00000370938.8	protein_coding		1978		chr1	TogoVar
CTIF_chr18_48534031_48868217	48645278	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp1 HG01884.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0050 a0001c0001t0008 a0001c0001t0050	a0001c0001t0008g0023 a0001c0001t0050g0124 a0001c0001t0008g0023 a0001c0001t0050g0124	2	144	0.0139	11	c.252 others(28): Show c.252+8598_252+8608dupAAAAAAAAAAA	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48832173	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01106.hp2 others(6): Show HG00639.hp1 HG01081.hp1 HG01106.hp2 HG01934.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG04115.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0031 a0001c0002t0045 a0001c0003t0007	a0001c0001t0001g0074 a0001c0001t0009g0076 a0001c0001t0012g0090 others(6): Show a0001c0001t0001g0074 a0001c0001t0009g0076 a0001c0001t0012g0090 a0001c0001t0012g0091 a0001c0001t0017g0100 a0001c0001t0017g0112 a0001c0001t0031g0018 a0001c0002t0045g0002 a0001c0003t0007g0052	9	144	0.0625	11	c.152 others(32): Show c.1527+14803_1527+14813dupTTTTTTTTTTT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTLA4_chr2_203862771_203878965	203878725	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 NA21309.hp1 HG02886.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0003 a0001c0001t0008g0003 a0001c0001t0006g0003 a0001c0001t0008g0003	2	420	0.0048	11	c.59 others(22): Show c.5913_*5914insAAAAAAAAAAA	CTLA4	ENSG00000163599.18	transcript	ENST00000648405.2	protein_coding		4761		chr2	TogoVar
CTNNA1_chr5_138748425_138940034	138823956	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01943.hp1 others(1): Show HG01168.hp2 HG01169.hp1 HG01943.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0060 a0001c0002t0002g0073 others(1): Show a0001c0002t0002g0056 a0001c0002t0002g0060 a0001c0002t0002g0073 a0001c0002t0002g0074	4	180	0.0222	11	c.589 others(26): Show c.589-554_589-544dupAAAAAAAAAAA	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138858595	T T	TTTTTCTT others(4): Show TTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02129.hp2 NA18983.hp2 others(1): Show HG02074.hp2 HG02129.hp2 NA18983.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046	4	180	0.0222	11	c.106 others(32): Show c.1063-27613_1063-27612insCTTTTTCTTTT	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138916177	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02572.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0047 a0001c0002t0005g0050 a0001c0002t0003g0047 a0001c0002t0005g0050	2	180	0.0111	11	c.139 others(30): Show c.1390-1561_1390-1551dupAAAAAAAAAAA	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79860546	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG00673.hp2 others(8): Show HG00642.hp1 HG00673.hp1 HG00673.hp2 HG01167.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02622.hp1 HG03139.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0006 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0002c0006t0001 a0002c0008t0001	a0001c0001t0001g0010 a0001c0002t0001g0022 a0001c0002t0001g0035 others(8): Show a0001c0001t0001g0010 a0001c0002t0001g0022 a0001c0002t0001g0035 a0001c0002t0001g0064 a0001c0003t0001g0026 a0001c0003t0002g0044 a0001c0005t0002g0009 a0001c0005t0002g0043 a0001c0005t0002g0063 a0002c0006t0001g0020 a0002c0008t0001g0002	11	68	0.1618	11	c.465 others(28): Show c.465+2376_465+2386dupTTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79860549	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0008	1	68	0.0147	11	c.465 others(28): Show c.465+2380_465+2381insGTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79956843	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp2 HG01884.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0001 a0001c0001t0004 a0001c0009t0001	a0001c0001t0004g0061 a0001c0009t0001g0003 a0001c0001t0004g0061 a0001c0009t0001g0003	2	68	0.0294	11	c.105 others(32): Show c.1056+47061_1056+47071dupTTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80164950	T T	TGTTTTGT others(4): Show TGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02109.hp1 others(12): Show HG00642.hp1 HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03927.hp1 HG04228.hp2 NA18906.hp1 NA18995.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0012t0002	a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 others(12): Show a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0002g0029 a0001c0001t0004g0061 a0001c0002t0001g0037 a0001c0002t0001g0064 a0001c0002t0003g0036 a0001c0003t0001g0013 a0001c0004t0001g0021 a0001c0004t0001g0032 a0001c0004t0002g0048 a0001c0005t0002g0043 a0001c0005t0002g0063 a0001c0012t0002g0019	15	68	0.2206	11	c.105 others(34): Show c.1057-228261_1057-228260insGTTTTGTTTTG	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18			chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80164950	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	68	0.0147	11	c.105 others(34): Show c.1057-228254_1057-228253insTTTGTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80495939	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 NA18995.hp2 HG00642.hp2 HG00673.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0012 a0001c0001 a0001c0005 a0001c0012	a0001c0001t0002 a0001c0005t0002 a0001c0012t0002 a0001c0001t0002 a0001c0005t0002 a0001c0012t0002	a0001c0001t0002g0066 a0001c0005t0002g0009 a0001c0012t0002g0019 a0001c0001t0002g0066 a0001c0005t0002g0009 a0001c0012t0002g0019	3	68	0.0441	11	c.129 others(32): Show c.1291-49025_1291-49015dupAAAAAAAAAAA	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80547690	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02970.hp2 HG02622.hp2 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0001c0001t0002 a0001c0002t0002 a0001c0004t0002	a0001c0001t0002g0029 a0001c0002t0002g0065 a0001c0004t0002g0048 a0001c0001t0002g0029 a0001c0002t0002g0065 a0001c0004t0002g0048	3	68	0.0441	11	c.154 others(30): Show c.1540+1633_1540+1643dupTTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80569633	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03688.hp1 NA18995.hp2 HG02258.hp1 HG03688.hp1 NA18995.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0001 a0001c0003t0002 a0001c0012t0002 a0001c0003t0001 a0001c0003t0002 a0001c0012t0002	a0001c0003t0001g0026 a0001c0003t0002g0008 a0001c0012t0002g0019 a0001c0003t0001g0026 a0001c0003t0002g0008 a0001c0012t0002g0019	3	68	0.0441	11	c.174 others(30): Show c.1742-4513_1742-4503dupTTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66042899	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0028 a0002c0002t0004g0028	1	46	0.0217	11	c.215 others(32): Show c.2159+26398_2159+26408dupTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66199805	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0037 a0001c0003t0018g0037	1	46	0.0217	11	c.188 others(32): Show c.1884+80664_1884+80665insAAAAATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66199806	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0017 a0001c0011t0009g0017	1	46	0.0217	11	c.188 others(32): Show c.1884+80663_1884+80664insTATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66241864	T T	TAAGGTGA others(4): Show TAAGGTGAAATC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02622.hp2 HG02647.hp2 others(7): Show HG01081.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03195.hp2 HG03579.hp2 NA18612.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0010 a0001c0001 a0001c0003 a0005c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 others(6): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0023 a0001c0003t0011 a0001c0003t0014 a0001c0003t0018 a0001c0003t0022 a0005c0010t0002	a0001c0001t0004g0043 a0001c0001t0006g0007 a0001c0001t0006g0008 others(7): Show a0001c0001t0004g0043 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0019g0019 a0001c0001t0023g0011 a0001c0003t0011g0032 a0001c0003t0014g0025 a0001c0003t0018g0037 a0001c0003t0022g0022 a0005c0010t0002g0021	10	46	0.2174	11	c.188 others(32): Show c.1884+38605_1884+38606insGATTTCACCTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66331338	G G	GCTTGCTT others(4): Show GCTTGCTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0002 a0001c0003t0008g0002	1	46	0.0217	11	c.173 others(32): Show c.1732+47813_1732+47814insAAAAAAGCAAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66420839	A A	AAATAAAT others(4): Show AAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0007 a0001c0001t0006g0008	2	46	0.0435	11	c.153 others(32): Show c.1532-41488_1532-41487insATTTATTTATT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66487181	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0017 a0001c0011t0009g0017	1	46	0.0217	11	c.153 others(32): Show c.1531+33425_1531+33435dupAAAAAAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66547343	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02622.hp1 HG01081.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0008 a0001c0001t0007 a0001c0003t0008	a0001c0001t0007g0020 a0001c0003t0008g0002 a0001c0001t0007g0020 a0001c0003t0008g0002	2	46	0.0435	11	c.137 others(32): Show c.1375-26571_1375-26570insAAAAAAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66677815	T T	TGTGAGAA others(4): Show TGTGAGAATAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02895.hp1 others(1): Show HG02145.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0008 a0001c0001t0009 a0001c0003t0022 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0003t0022 a0001c0005t0010	a0001c0001t0008g0004 a0001c0001t0009g0031 a0001c0003t0022g0022 others(1): Show a0001c0001t0008g0004 a0001c0001t0009g0031 a0001c0003t0022g0022 a0001c0005t0010g0029	4	46	0.0870	11	c.128 others(32): Show c.1282-56042_1282-56032dupTCTATTCTCAC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66845708	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0012 a0001c0001t0021g0012	1	46	0.0217	11	c.104 others(32): Show c.1048-70185_1048-70184insGTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66978546	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0018	1	46	0.0217	11	c.104 others(34): Show c.1047+201770_1047+201771insATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66978552	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0019 a0001c0001t0019g0019	1	46	0.0217	11	c.104 others(34): Show c.1047+201764_1047+201765insATATATTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66996649	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	46	0.0217	11	c.104 others(34): Show c.1047+183657_1047+183667dupTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67208378	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0016 a0001c0007t0015g0016	1	46	0.0217	11	c.843 others(30): Show c.843+11218_843+11228dupTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	6/17			chr10	TogoVar
CTNNAL1_chr9_108937577_109018499	108958063	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0358 a0001c0001t0003g0359	2	420	0.0048	11	c.159 others(30): Show c.1592-2247_1592-2237dupTTTTTTTTTTT	CTNNAL1	ENSG00000119326.15	transcript	ENST00000325551.9	protein_coding	11/18			chr9	TogoVar
CTNNB1_chr3_41194505_41245443	41198506	C C	CTCCAAAG others(4): Show CTCCAAAGAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0101 a0001c0001t0037g0101	1	342	0.0029	11	c.-12 others(22): Show c.-1213_-1212insTCCAAAGAAAA	CTNNB1	ENSG00000168036.18	transcript	ENST00000349496.11	protein_coding		998		chr3	TogoVar
CTNND2_chr5_10966836_11909446	10992804	A A	AGCGCAGA others(4): Show AGCGCAGAAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp1 HG02647.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0022 a0001c0002t0001g0015 a0001c0001t0001g0022 a0001c0002t0001g0015	2	26	0.0769	11	c.308 others(28): Show c.3085-128_3085-127insCTCTTCTGCGC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	18/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11128741	T T	TTATATAT others(4): Show TTATATATATTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02922.hp1 HG03130.hp1 others(4): Show HG00738.hp2 HG02922.hp1 HG03130.hp1 HG03471.hp1 NA18522.hp2 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0008 a0001c0001 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0003g0026 a0001c0007t0001g0002 a0002c0008t0001g0014	7	26	0.2692	11	c.216 others(32): Show c.2160-11185_2160-11175dupTAATATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11204571	C C	CATCACTA others(4): Show CATCACTAAAGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	26	0.0385	11	c.176 others(30): Show c.1762-4911_1762-4910insCCTTTAGTGAT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	10/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11250520	T T	TATATACA others(4): Show TATATACATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	26	0.0385	11	c.162 others(32): Show c.1629-13698_1629-13697insTATATGTATAT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11443253	C C	CTGTGTGT others(4): Show CTGTGTGTGGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp2 HG03225.hp2 others(2): Show HG02922.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0001t0001 a0001c0005t0001 a0001c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0005t0001g0020 a0001c0009t0001g0008	5	26	0.1923	11	c.288 others(30): Show c.288-31195_288-31185dupCACCACACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11748185	A A	AAAAGAAC others(4): Show AAAAGAACAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02258.hp1 others(21): Show HG00738.hp1 HG00738.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0006t0002g0025 a0001c0007t0001g0002 a0001c0009t0001g0008 a0002c0008t0001g0014	24	26	0.9231	11	c.38- others(28): Show c.38-15914_38-15913insATTTGTTCTTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11865902	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	26	0.0385	11	c.37+ others(28): Show c.37+37904_37+37914dupTTTTTTTTTTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635193	T T	TGAAGGAA others(4): Show TGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0241 a0001c0001t0006g0241	1	372	0.0027	11	c.-18 others(22): Show c.-1868_-1867insGAAGGAAGGAA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1566		chr17	TogoVar
CTNS_chr17_3631760_3668103	3641385	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01928.hp2 HG02572.hp2 others(1): Show HG01081.hp1 HG01928.hp2 HG02572.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0086 a0002c0002t0066 a0001c0001t0001 a0001c0001t0086 a0002c0002t0066	a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0086g0189 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0086g0189 a0002c0002t0066g0291	4	372	0.0108	11	c.61+ others(26): Show c.61+1118_61+1119insATATATATATA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11			chr17	TogoVar
CTPS2_chrX_16582999_16717669	16647255	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	226	0.0044	11	c.129 others(30): Show c.1297-8023_1297-8013dupAAAAAAAAAAA	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTSC_chr11_88288592_88342736	88291571	A A	AAAGATGA others(4): Show AAAGATGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0300 a0003c0003t0001g0300	1	434	0.0023	11	c.24 others(22): Show c.2434_*2435insCTCTTCATCTT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2020		chr11	TogoVar

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