JoGo: Joint Open Genome and Omics Platform

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
CTNNA2_chr2_79508051_80653780	80116902	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0008	1	68	0.0147	20	c.105 others(43): Show c.1056+207120_1056+207139dupGTGTGTGTGTGTGTGTGTGT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80591457	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	68	0.0147	20	c.218 others(39): Show c.2189+1974_2189+1993dupTTTTTTTTTTTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80639535	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	68	0.0147	20	c.257 others(39): Show c.2575-8045_2575-8044insGTGTGTGTGTGTGTCTGTGT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66007704	T T	TCCTCCCT others(13): Show TCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03130.hp2 NA18612.hp2 HG01081.hp2 HG03130.hp2 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0003t0008 a0002c0002t0026 a0001c0001t0004 a0001c0003t0008 a0002c0002t0026	a0001c0001t0004g0043 a0001c0003t0008g0002 a0002c0002t0026g0046 a0001c0001t0004g0043 a0001c0003t0008g0002 a0002c0002t0026g0046	3	46	0.0652	20	c.216 others(41): Show c.2160-18927_2160-18908dupGAGGGAGGGAGGGAGGGAGG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66021852	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02897.hp2 HG02818.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0027 a0001c0001t0006g0007 a0001c0001t0006g0027	2	46	0.0435	20	c.216 others(41): Show c.2160-33056_2160-33055insAAAAAAAAAAAAAAAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66042899	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0026 a0002c0002t0013g0026	1	46	0.0217	20	c.215 others(41): Show c.2159+26389_2159+26408dupTTTTTTTTTTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	15/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66154719	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02717.hp1 HG02818.hp2 others(1): Show HG01070.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0001 a0001c0001t0006 a0001c0004t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0007 a0001c0011t0009	a0001c0001t0001g0015 a0001c0001t0006g0027 a0001c0004t0007g0005 others(1): Show a0001c0001t0001g0015 a0001c0001t0006g0027 a0001c0004t0007g0005 a0001c0011t0009g0017	4	46	0.0870	20	c.188 others(41): Show c.1885-51490_1885-51471dupATATATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66189600	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	46	0.0217	20	c.188 others(41): Show c.1885-86352_1885-86351insTATATATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66199765	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	46	0.0217	20	c.188 others(41): Show c.1884+80685_1884+80704dupTATATATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	13/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66318276	A A	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG02622.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0022 a0001c0001t0003 a0001c0003t0022	a0001c0001t0003g0023 a0001c0003t0022g0022 a0001c0001t0003g0023 a0001c0003t0022g0022	2	46	0.0435	20	c.173 others(41): Show c.1733-37656_1733-37655insCACACACACACACACACATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66328933	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0021 a0005c0010t0002g0021	1	46	0.0217	20	c.173 others(41): Show c.1733-48313_1733-48312insGTGTATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66420835	A A	AAATAAAT others(13): Show AAATAAATAAATAAATAAATT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0044 a0001c0001t0024g0044	1	46	0.0217	20	c.153 others(41): Show c.1532-41484_1532-41483insAATTTATTTATTTATTTATT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66420835	A A	AAATAAAT others(13): Show AAATAAATAAATAAATTAATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0031 a0001c0001t0009g0031	1	46	0.0217	20	c.153 others(41): Show c.1532-41484_1532-41483insAATTAATTTATTTATTTATT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66421897	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	46	0.0217	20	c.153 others(41): Show c.1532-42546_1532-42545insATATATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66515265	A A	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	46	0.0217	20	c.153 others(39): Show c.1531+5332_1531+5351dupGATAGATAGATAGATAGATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	11/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66685223	A A	ATATACGT others(13): Show ATATACGTATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	46	0.0217	20	c.128 others(41): Show c.1282-63440_1282-63439insCACACACATATATACGTATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66712604	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19080.hp2 NA18960.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0041 a0001c0001t0024g0044 a0001c0001t0004g0041 a0001c0001t0024g0044	2	46	0.0435	20	c.128 others(41): Show c.1281+53659_1281+53660insTGTGTGTGTGTGTGTGTGTG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66840323	A A	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	46	0.0217	20	c.104 others(41): Show c.1048-64819_1048-64800dupGAGAGAGAGAGAGAGAGAGA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66845703	C C	CAAAAAAA others(13): Show CAAAAAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	46	0.0217	20	c.104 others(41): Show c.1048-70180_1048-70179insATTTATTTATTTATTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66845707	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18960.hp2 HG01243.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0017 a0002c0002t0005 a0002c0002t0017	a0002c0002t0005g0014 a0002c0002t0017g0040 a0002c0002t0005g0014 a0002c0002t0017g0040	2	46	0.0435	20	c.104 others(41): Show c.1048-70184_1048-70183insATTTATTTATTTATTTATTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67105235	T T	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 NA18612.hp1 others(2): Show HG02145.hp2 HG03130.hp1 NA18612.hp1 NA18964.hp1 NA19080.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0009 a0001c0001 a0002c0002 a0003c0009	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0002c0002t0003 a0003c0009t0003	a0001c0001t0001g0006 a0001c0001t0005g0010 a0002c0002t0002g0013 others(2): Show a0001c0001t0001g0006 a0001c0001t0005g0010 a0002c0002t0002g0013 a0002c0002t0003g0042 a0003c0009t0003g0036	5	46	0.1087	20	c.104 others(41): Show c.1047+75062_1047+75081dupTATCTATCTATCTATCTATC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67114709	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG06807.hp1 HG03195.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0008 a0001c0003 a0004c0008	a0001c0003t0018 a0004c0008t0005 a0001c0003t0018 a0004c0008t0005	a0001c0003t0018g0037 a0004c0008t0005g0033 a0001c0003t0018g0037 a0004c0008t0005g0033	2	46	0.0435	20	c.104 others(41): Show c.1047+65588_1047+65607dupACACACACACACACACACAC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67143425	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0030 a0001c0001t0020g0030	1	46	0.0217	20	c.104 others(41): Show c.1047+36872_1047+36891dupTTTTTTTTTTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67452061	T T	TGGAAGGA others(13): Show TGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp1 HG02622.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0007 a0001c0011t0009 a0001c0001t0007 a0001c0011t0009	a0001c0001t0007g0020 a0001c0011t0009g0017 a0001c0001t0007g0020 a0001c0011t0009g0017	2	46	0.0435	20	c.579 others(39): Show c.579+69761_579+69780dupTTCCTTCCTTCCTTCCTTCC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67489805	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0015 a0001c0006t0001 a0001c0007t0015	a0001c0006t0001g0001 a0001c0007t0015g0016 a0001c0006t0001g0001 a0001c0007t0015g0016	2	46	0.0435	20	c.579 others(39): Show c.579+32036_579+32037insGTATATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566039	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0037 a0001c0003t0018g0037	1	46	0.0217	20	c.293 others(39): Show c.293-26371_293-26370insTATATATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566041	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG02818.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0004 a0001c0001t0006 a0002c0002t0004	a0001c0001t0006g0027 a0002c0002t0004g0028 a0001c0001t0006g0027 a0002c0002t0004g0028	2	46	0.0435	20	c.293 others(39): Show c.293-26373_293-26372insTATATATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0011 a0001c0001t0023g0011	1	46	0.0217	20	c.293 others(39): Show c.293-26394_293-26375dupTATATATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67620923	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0038 a0001c0001t0012g0038	1	46	0.0217	20	c.100 others(39): Show c.100-13875_100-13874insTATATATATATATATATACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	2/17			chr10	TogoVar
CTNNBL1_chr20_37689030_37877118	37818292	T T	TTACGATA others(13): Show TTACGATACATACATTAGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	266	0.0038	20	c.121 others(41): Show c.1213+15245_1213+15246insACGATACATACATTAGAGGT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNND2_chr5_10966836_11909446	11081086	A A	ACACACAC others(13): Show ACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	26	0.0385	20	c.278 others(39): Show c.2788+1609_2788+1610insAGTGTGTGTGTGTGTGTGTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	16/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11376324	G G	GCGTGTGT others(13): Show GCGTGTGTGTGTGTTCATGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	26	0.0385	20	c.117 others(39): Show c.1177+8340_1177+8341insTACATGAACACACACACACG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11674716	T T	TTTGTTTG others(13): Show TTTGTTTGGTTGGTTGGTTGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0008 a0001c0009t0001g0008	1	26	0.0385	20	c.174 others(39): Show c.174+57419_174+57420insCCAACCAACCAACCAAACAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11691373	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	26	0.0385	20	c.174 others(39): Show c.174+40743_174+40762dupATTTTATTTTATTTTATTTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11879339	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG02258.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0002t0001g0013 a0001c0001t0001g0016 a0001c0002t0001g0013	2	26	0.0769	20	c.37+ others(37): Show c.37+24477_37+24478insTATATATATATATATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635193	T T	TGAAGGAA others(13): Show TGAAGGAAGGAAGAAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00639.hp1 others(15): Show HG00423.hp1 HG00558.hp2 HG00639.hp1 HG01081.hp2 HG01099.hp1 HG02083.hp1 HG02258.hp1 HG02523.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp2 NA18948.hp1 NA18957.hp2 NA18961.hp1 NA18967.hp2 NA19007.hp2 NA19065.hp1 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0031 a0001c0001t0051 a0001c0001t0071 a0001c0001t0093 a0001c0003t0003 a0001c0003t0006 a0001c0003t0038 a0001c0004t0018 a0004c0007t0005	a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0039 others(15): Show a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0039 a0001c0001t0002g0069 a0001c0001t0003g0205 a0001c0001t0005g0005 a0001c0001t0005g0050 a0001c0001t0007g0001 a0001c0001t0031g0102 a0001c0001t0051g0222 a0001c0001t0071g0005 a0001c0001t0093g0109 a0001c0003t0003g0004 a0001c0003t0003g0245 a0001c0003t0006g0232 a0001c0003t0038g0242 a0001c0004t0018g0117 a0004c0007t0005g0049	18	372	0.0484	20	c.-18 others(31): Show c.-1868_-1867insGAAGGAAGGAAGAAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1566		chr17	TogoVar
CTNS_chr17_3631760_3668103	3641355	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0281 a0002c0002t0012g0281	1	372	0.0027	20	c.61+ others(35): Show c.61+1091_61+1092insTATATATATATATATATATA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641359	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01952.hp2 HG02165.hp1 others(1): Show HG00423.hp2 HG01952.hp2 HG02165.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0024 a0001c0001t0001g0134 a0001c0001t0001g0135	4	372	0.0108	20	c.61+ others(35): Show c.61+1099_61+1118dupATATATATATATATATATAT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3642041	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	372	0.0027	20	c.61+ others(35): Show c.61+1789_61+1790insGTGTGTGTGTGTGTGTGTGT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16661993	C C	CATATATA others(13): Show CATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	226	0.0044	20	c.129 others(39): Show c.1296+5520_1296+5521insATATATATATGTATATATAT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16668770	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	226	0.0044	20	c.119 others(39): Show c.1190-1066_1190-1047dupCCTTCCTTCCTTCCTTCCTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	11/18			chrX	TogoVar
CTSB_chr8_11837524_11873087	11869602	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02615.hp1 HG02145.hp2 HG02572.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166	3	438	0.0069	20	c.-16 others(31): Show c.-1628_-1627insCTTTTTTTTTTTTTTTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		1516		chr8	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00733.hp2 others(17): Show HG00099.hp1 HG00639.hp2 HG00733.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01943.hp2 HG01978.hp2 HG02273.hp2 HG02698.hp2 HG03453.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp2 NA18953.hp1 NA18959.hp2 NA19063.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0064 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0276 a0001c0001t0002g0048 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0105	20	434	0.0461	20	c.24 others(31): Show c.2417_*2436dupTTTCTTTCTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSC_chr11_88288592_88342736	88316475	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp1 HG01884.hp1 others(18): Show HG00609.hp2 HG01261.hp1 HG01884.hp1 HG02135.hp1 HG02165.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp1 NA18944.hp2 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18994.hp1 NA19010.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0179 others(18): Show a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0274 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0004g0047 a0001c0001t0005g0056	21	434	0.0484	20	c.319 others(37): Show c.319-3941_319-3922dupTTTATTTATTTATTTATTTA	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	2/6			chr11	TogoVar
CTSK_chr1_150791208_150813260	150807005	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG02015.hp2 others(24): Show HG00558.hp2 HG00621.hp1 HG02015.hp2 HG02040.hp2 HG02258.hp1 HG02273.hp2 HG02809.hp1 HG02922.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp2 NA18906.hp2 NA18939.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA19007.hp1 NA19007.hp2 NA19056.hp2 NA19089.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0040 a0001c0001t0001g0041 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186	27	392	0.0689	20	c.-1- others(33): Show c.-1-219_-1-200dupGAGAGAGAGAGAGAGAGAGA	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112391990	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG03139.hp2 others(2): Show HG02451.hp2 HG02486.hp1 HG03139.hp2 HG03209.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0003 a0001c0001t0004 a0001c0005t0008 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0005t0008 a0002c0004t0007	a0001c0001t0003g0288 a0001c0001t0004g0278 a0001c0005t0008g0297 others(2): Show a0001c0001t0003g0288 a0001c0001t0004g0278 a0001c0005t0008g0297 a0001c0005t0008g0299 a0002c0004t0007g0295	5	324	0.0154	20	c.-44 others(31): Show c.-4416_-4415insAATAAATAAATAAATAAATA	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4223		chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112452335	C C	CTTCTTTT others(13): Show CTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0285 a0001c0009t0012g0285	1	324	0.0031	20	c.331 others(37): Show c.331-2112_331-2111insCTTTTTTTTTTTTTTTTTTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112465445	A A	AACACACA others(13): Show AACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01192.hp1 HG01261.hp2 others(10): Show HG00544.hp1 HG01192.hp1 HG01261.hp2 HG02109.hp1 HG02148.hp2 HG02630.hp1 HG02723.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 NA19030.hp2 NA19055.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0003c0013	a0001c0001t0001 a0001c0002t0002 a0003c0006t0011 others(2): Show a0001c0001t0001 a0001c0002t0002 a0003c0006t0011 a0003c0006t0016 a0003c0013t0016	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0178 others(10): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0178 a0001c0001t0001g0242 a0001c0001t0001g0256 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0046 a0001c0002t0002g0073 a0001c0002t0002g0087 a0003c0006t0011g0154 a0003c0006t0016g0014 a0003c0013t0016g0013	13	324	0.0401	20	c.80 others(31): Show c.8033_*8034insACACACACACACACACACAC	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4282		chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117817357	A A	ATAATATA others(13): Show ATAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02723.hp1 HG00642.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0128 a0001c0006t0002g0080 a0001c0001t0002g0128 a0001c0006t0002g0080	2	164	0.0122	20	c.190 others(37): Show c.190-6369_190-6368insATATATATATATATATATTA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117871844	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03017.hp1 HG03017.hp2 others(5): Show HG01361.hp2 HG03017.hp1 HG03017.hp2 NA18947.hp2 NA18960.hp1 NA19030.hp1 NA19065.hp2 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0015 a0001c0017 others(1): Show a0001c0001 a0001c0015 a0001c0017 a0010c0011	a0001c0001t0001 a0001c0001t0003 a0001c0015t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0015t0001 a0001c0017t0001 a0010c0011t0002	a0001c0001t0001g0043 a0001c0001t0001g0098 a0001c0001t0001g0099 others(5): Show a0001c0001t0001g0043 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0003g0148 a0001c0015t0001g0161 a0001c0017t0001g0044 a0010c0011t0002g0100	8	164	0.0488	20	c.81+ others(35): Show c.81+1471_81+1490dupTGTGTGTGTGTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar

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