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
CTNNA3_chr10_65907523_67701195	66763341	C C	CACACAGA others(9): Show CACACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0045 a0001c0001t0025g0045	1	46	0.0217	16	c.128 others(35): Show c.1281+2922_1281+2923insCTCTCTCTCTCTGTGT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66845754	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp2 HG06807.hp1 others(1): Show HG02647.hp1 HG02965.hp2 HG06807.hp1 NA18960.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0002c0002 a0004c0008 a0001c0006 a0002c0002 a0004c0008	a0001c0006t0001 a0002c0002t0004 a0002c0002t0017 others(1): Show a0001c0006t0001 a0002c0002t0004 a0002c0002t0017 a0004c0008t0005	a0001c0006t0001g0001 a0002c0002t0004g0028 a0002c0002t0017g0040 others(1): Show a0001c0006t0001g0001 a0002c0002t0004g0028 a0002c0002t0017g0040 a0004c0008t0005g0033	4	46	0.0870	16	c.104 others(37): Show c.1048-70246_1048-70231dupGTGTGTGTGTGTGTGT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67005682	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19080.hp2 HG02622.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0022 a0001c0001t0004 a0001c0003t0022	a0001c0001t0004g0041 a0001c0003t0022g0022 a0001c0001t0004g0041 a0001c0003t0022g0022	2	46	0.0435	16	c.104 others(39): Show c.1047+174619_1047+174634dupAAAAAAAAAAAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67005687	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03579.hp1 HG02818.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0013 a0001c0001t0006 a0002c0002t0013	a0001c0001t0006g0027 a0002c0002t0013g0026 a0001c0001t0006g0027 a0002c0002t0013g0026	2	46	0.0435	16	c.104 others(39): Show c.1047+174629_1047+174630insCAAAAAAAAAAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67075170	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	46	0.0217	16	c.104 others(39): Show c.1047+105131_1047+105146dupTGTGTGTGTGTGTGTG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67105235	T T	TGATAGAT others(9): Show TGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01243.hp1 others(3): Show HG01081.hp1 HG01081.hp2 HG01243.hp1 HG02145.hp1 HG02280.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0023 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0023 a0001c0003t0008 a0001c0007t0015 a0002c0002t0001	a0001c0001t0002g0024 a0001c0001t0008g0004 a0001c0001t0023g0011 others(3): Show a0001c0001t0002g0024 a0001c0001t0008g0004 a0001c0001t0023g0011 a0001c0003t0008g0002 a0001c0007t0015g0016 a0002c0002t0001g0035	6	46	0.1304	16	c.104 others(37): Show c.1047+75066_1047+75081dupTATCTATCTATCTATC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67114709	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG02145.hp2 HG03130.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0003 a0001c0001t0001 a0003c0009t0003	a0001c0001t0001g0006 a0003c0009t0003g0036 a0001c0001t0001g0006 a0003c0009t0003g0036	2	46	0.0435	16	c.104 others(37): Show c.1047+65592_1047+65607dupACACACACACACACAC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67133328	T T	TATATATA others(9): Show TATATATATATTTATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02895.hp1 others(5): Show HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG06807.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0002c0002 a0004c0008	a0001c0001t0009 a0001c0001t0020 a0001c0003t0011 others(5): Show a0001c0001t0009 a0001c0001t0020 a0001c0003t0011 a0001c0003t0018 a0001c0004t0001 a0001c0005t0010 a0002c0002t0026 a0004c0008t0005	a0001c0001t0009g0031 a0001c0001t0020g0030 a0001c0003t0011g0032 others(5): Show a0001c0001t0009g0031 a0001c0001t0020g0030 a0001c0003t0011g0032 a0001c0003t0018g0037 a0001c0004t0001g0018 a0001c0005t0010g0029 a0002c0002t0026g0046 a0004c0008t0005g0033	8	46	0.1739	16	c.104 others(37): Show c.1047+46988_1047+46989insGTATAAATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67143425	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0019 a0001c0001t0019g0019	1	46	0.0217	16	c.104 others(37): Show c.1047+36876_1047+36891dupTTTTTTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67208378	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0042	1	46	0.0217	16	c.843 others(35): Show c.843+11213_843+11228dupTTTTTTTTTTTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	6/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67350910	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03579.hp2 HG02896.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0019 a0001c0011t0009 a0001c0001t0019 a0001c0011t0009	a0001c0001t0019g0019 a0001c0011t0009g0017 a0001c0001t0019g0019 a0001c0011t0009g0017	2	46	0.0435	16	c.580 others(37): Show c.580-131041_580-131040insTATATATATATATACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566039	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0039 a0002c0002t0003g0039	1	46	0.0217	16	c.293 others(35): Show c.293-26371_293-26370insTATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNAL1_chr9_108937577_109018499	108964842	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18956.hp1 NA19082.hp2 HG00408.hp2 NA18956.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340	3	420	0.0071	16	c.159 others(33): Show c.1591+520_1591+535dupTAAATAAATAAATAAA	CTNNAL1	ENSG00000119326.15	transcript	ENST00000325551.9	protein_coding	11/18			chr9	TogoVar
CTNND2_chr5_10966836_11909446	11101885	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0009 a0001c0005t0001g0020 a0001c0001t0001g0009 a0001c0005t0001g0020	2	26	0.0769	16	c.246 others(35): Show c.2464-3138_2464-3137insCACACACACACACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	14/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11128965	A A	AATATATA others(9): Show AATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp1 homoSapiens_chm13v2.hp1 HG03471.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0004 a0001c0001t0001g0017	2	26	0.0769	16	c.216 others(37): Show c.2160-11399_2160-11398insAATATATATTATATAT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11480644	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	26	0.0385	16	c.288 others(35): Show c.288-68576_288-68575insCACACACACACACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11674716	T T	TTTGTTTG others(9): Show TTTGTTTGGTTGGTTGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG03130.hp2 others(4): Show HG02258.hp1 HG02647.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0002 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0002t0001g0006 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0006t0002g0025 a0002c0008t0001g0014	7	26	0.2692	16	c.174 others(35): Show c.174+57419_174+57420insCCAACCAACCAAACAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11770408	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	26	0.0385	16	c.38- others(33): Show c.38-38137_38-38136insCCTTTCTTCCTTCCTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11770415	A A	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0014 a0002c0008t0001g0014	1	26	0.0385	16	c.38- others(33): Show c.38-38159_38-38144dupCTTCCTTCCTTCCTTC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11879339	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0019 a0001c0004t0001g0019	1	26	0.0385	16	c.37+ others(33): Show c.37+24477_37+24478insTATATATATATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635193	T T	TGAAGGAA others(9): Show TGAAGGAAGGAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(56): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01123.hp2 HG01934.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02698.hp1 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18968.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18984.hp2 NA18988.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19011.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19089.hp2 NA20300.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0007c0011 a0008c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0031 a0001c0001t0032 a0001c0003t0003 a0001c0003t0006 a0001c0003t0017 a0001c0003t0049 a0001c0003t0052 a0001c0004t0018 a0001c0004t0026 a0001c0004t0027 a0001c0004t0057 a0001c0004t0059 a0002c0002t0012 a0002c0002t0015 a0002c0002t0019 a0002c0002t0030 a0002c0002t0034 a0002c0002t0063 a0002c0002t0066 a0007c0011t0002 a0008c0006t0003	a0001c0001t0001g0163 a0001c0001t0002g0001 a0001c0001t0002g0005 others(54): Show a0001c0001t0001g0163 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0080 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0110 a0001c0001t0003g0223 a0001c0001t0005g0001 a0001c0001t0005g0010 a0001c0001t0005g0048 a0001c0001t0005g0068 a0001c0001t0005g0081 a0001c0001t0005g0087 a0001c0001t0005g0094 a0001c0001t0013g0107 a0001c0001t0031g0021 a0001c0001t0032g0079 a0001c0001t0032g0086 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0221 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0006g0004 a0001c0003t0006g0030 a0001c0003t0006g0209 a0001c0003t0006g0220 a0001c0003t0006g0225 a0001c0003t0017g0235 a0001c0003t0049g0244 a0001c0003t0052g0229 a0001c0004t0018g0118 a0001c0004t0018g0119 a0001c0004t0026g0299 a0001c0004t0026g0300 a0001c0004t0027g0295 a0001c0004t0057g0298 a0001c0004t0059g0297 a0002c0002t0012g0274 a0002c0002t0012g0281 a0002c0002t0012g0282 a0002c0002t0012g0283 a0002c0002t0015g0275 a0002c0002t0015g0276 a0002c0002t0015g0277 a0002c0002t0015g0287 a0002c0002t0019g0285 a0002c0002t0030g0249 a0002c0002t0034g0286 a0002c0002t0063g0280 a0002c0002t0066g0291 a0007c0011t0002g0009 a0008c0006t0003g0219	59	372	0.1586	16	c.-18 others(27): Show c.-1868_-1867insGAAGGAAGGAAGAAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1566		chr17	TogoVar
CTNS_chr17_3631760_3668103	3641359	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02735.hp2 HG02970.hp1 others(5): Show HG02647.hp1 HG02735.hp2 HG02970.hp1 HG03239.hp2 HG03486.hp2 HG03834.hp1 NA19005.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0004t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0008 a0001c0004t0027	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0170 others(4): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0005g0104 a0001c0004t0008g0037 a0001c0004t0027g0296	8	372	0.0215	16	c.61+ others(31): Show c.61+1103_61+1118dupATATATATATATATAT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01891.hp2 others(4): Show HG01109.hp2 HG01167.hp2 HG01891.hp2 HG02109.hp1 HG02451.hp2 HG02615.hp2 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0010 a0002c0002t0068 a0002c0002t0004 a0002c0002t0010 a0002c0002t0068	a0002c0002t0004g0017 a0002c0002t0004g0036 a0002c0002t0004g0266 others(3): Show a0002c0002t0004g0017 a0002c0002t0004g0036 a0002c0002t0004g0266 a0002c0002t0004g0267 a0002c0002t0010g0017 a0002c0002t0068g0017	7	372	0.0188	16	c.61+ others(31): Show c.61+1118_61+1119insATATATATTTTTTTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(9): Show ATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0269 a0002c0002t0004g0269	1	372	0.0027	16	c.61+ others(31): Show c.61+1118_61+1119insATATATTTTTTTTTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATTT others(9): Show ATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0303 a0002c0002t0004g0303	1	372	0.0027	16	c.61+ others(31): Show c.61+1118_61+1119insATATTTTTTTTTTTTT	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(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00597.hp2 others(89): Show HG00099.hp1 HG00280.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0004 a0003c0005 others(2): Show a0001c0001 a0001c0004 a0003c0005 a0004c0007 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0045 a0001c0001t0050 a0001c0001t0065 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0080 a0001c0001t0093 a0001c0004t0005 a0003c0005t0008 a0004c0007t0005 a0007c0011t0002	a0001c0001t0001g0005 a0001c0001t0001g0072 a0001c0001t0002g0001 others(77): Show a0001c0001t0001g0005 a0001c0001t0001g0072 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0005g0001 a0001c0001t0005g0005 a0001c0001t0005g0010 a0001c0001t0005g0013 a0001c0001t0005g0020 a0001c0001t0005g0040 a0001c0001t0005g0050 a0001c0001t0005g0060 a0001c0001t0005g0065 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0001t0005g0073 a0001c0001t0005g0078 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0087 a0001c0001t0005g0091 a0001c0001t0005g0094 a0001c0001t0005g0099 a0001c0001t0005g0101 a0001c0001t0005g0104 a0001c0001t0007g0001 a0001c0001t0007g0046 a0001c0001t0007g0092 a0001c0001t0013g0006 a0001c0001t0013g0013 a0001c0001t0022g0055 a0001c0001t0031g0021 a0001c0001t0031g0102 a0001c0001t0032g0079 a0001c0001t0032g0086 a0001c0001t0045g0057 a0001c0001t0050g0056 a0001c0001t0065g0047 a0001c0001t0069g0085 a0001c0001t0070g0106 a0001c0001t0071g0005 a0001c0001t0080g0074 a0001c0001t0093g0109 a0001c0004t0005g0062 a0003c0005t0008g0041 a0003c0005t0008g0042 a0003c0005t0008g0043 a0003c0005t0008g0044 a0004c0007t0005g0049 a0007c0011t0002g0009	92	372	0.2473	16	c.61+ others(31): Show c.61+1789_61+1790insGTGTGTGTGTGTGTGT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16639777	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18960.hp1 NA18955.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0119 a0001c0001t0001g0004 a0001c0001t0001g0119	2	226	0.0089	16	c.129 others(33): Show c.1297-550_1297-535dupCTTTCTTTCTTTCTTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16668770	A A	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	226	0.0044	16	c.119 others(35): Show c.1190-1062_1190-1047dupCCTTCCTTCCTTCCTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	11/18			chrX	TogoVar
CTRC_chr1_15433443_15454242	15445793	C C	CCCCCTCA others(9): Show CCCCCTCACTCACCCAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	428	0.0023	16	c.792 others(29): Show c.792+56_792+71dupCCCATCCCCTCACTCA	CTRC	ENSG00000162438.12	transcript	ENST00000375949.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTSB_chr8_11837524_11873087	11854593	T T	TTCAAACA others(9): Show TTCAAACAATTCTTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp1 others(53): Show HG00099.hp1 HG00323.hp1 HG00639.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0003 a0001c0004 a0001c0010 others(6): Show a0001c0003 a0001c0004 a0001c0010 a0002c0002 a0002c0006 a0003c0008 a0003c0009 a0003c0011 a0010c0017	a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 others(23): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0047 a0001c0003t0048 a0001c0003t0089 a0001c0003t0090 a0001c0004t0017 a0001c0004t0028 a0001c0004t0029 a0001c0004t0035 a0001c0004t0091 a0001c0004t0093 a0001c0004t0097 a0001c0010t0009 a0002c0002t0001 a0002c0002t0018 a0002c0002t0049 a0002c0006t0096 a0003c0008t0020 a0003c0008t0046 a0003c0009t0024 a0003c0011t0024 a0003c0011t0094 a0003c0011t0095 a0010c0017t0052	a0001c0003t0004g0340 a0001c0003t0005g0132 a0001c0003t0005g0133 others(47): Show a0001c0003t0004g0340 a0001c0003t0005g0132 a0001c0003t0005g0133 a0001c0003t0005g0134 a0001c0003t0005g0196 a0001c0003t0005g0255 a0001c0003t0005g0281 a0001c0003t0005g0300 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0336 a0001c0003t0005g0360 a0001c0003t0010g0335 a0001c0003t0047g0311 a0001c0003t0047g0331 a0001c0003t0048g0339 a0001c0003t0048g0358 a0001c0003t0089g0330 a0001c0003t0090g0322 a0001c0004t0017g0026 a0001c0004t0017g0363 a0001c0004t0017g0366 a0001c0004t0017g0367 a0001c0004t0028g0025 a0001c0004t0028g0368 a0001c0004t0029g0376 a0001c0004t0029g0377 a0001c0004t0029g0378 a0001c0004t0035g0323 a0001c0004t0091g0364 a0001c0004t0093g0371 a0001c0004t0097g0365 a0001c0010t0009g0008 a0001c0010t0009g0337 a0002c0002t0001g0334 a0002c0002t0018g0160 a0002c0002t0018g0200 a0002c0002t0049g0372 a0002c0002t0049g0374 a0002c0006t0096g0373 a0003c0008t0020g0015 a0003c0008t0020g0162 a0003c0008t0020g0167 a0003c0008t0046g0014 a0003c0009t0024g0194 a0003c0009t0024g0195 a0003c0011t0024g0042 a0003c0011t0094g0375 a0003c0011t0095g0370 a0010c0017t0052g0027	56	438	0.1279	16	c.-25 others(33): Show c.-25-1115_-25-1114insCACAAGAATTGTTTGA	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding	1/9			chr8	TogoVar
CTSB_chr8_11837524_11873087	11869602	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0020 a0003c0008t0020	a0003c0008t0020g0167 a0003c0008t0020g0167	1	438	0.0023	16	c.-16 others(27): Show c.-1628_-1627insCTTTTTTTTTTTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		1516		chr8	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(9): Show TGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00642.hp2 others(26): Show HG00544.hp2 HG00642.hp1 HG00642.hp2 HG01109.hp1 HG01123.hp1 HG01981.hp1 HG02056.hp2 HG02074.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 NA18957.hp1 NA18979.hp1 NA18998.hp2 NA19006.hp1 NA19057.hp1 NA19078.hp1 NA19081.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0128 a0001c0001t0001g0226 a0001c0001t0001g0277 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0091 a0002c0002t0001g0103 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0228	29	434	0.0668	16	c.24 others(27): Show c.2421_*2436dupTTTCTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSC_chr11_88288592_88342736	88316475	C C	CTAAATAA others(9): Show CTAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00673.hp2 others(86): Show HG00280.hp1 HG00323.hp1 HG00673.hp2 HG00733.hp2 HG01175.hp1 HG01243.hp1 HG01346.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02280.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19070.hp1 NA19074.hp1 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(67): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0093 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0002g0057 a0001c0001t0006g0172 a0001c0001t0007g0317 a0001c0004t0001g0094 a0002c0002t0001g0105 a0002c0002t0001g0108	89	434	0.2051	16	c.319 others(33): Show c.319-3937_319-3922dupTTTATTTATTTATTTA	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	2/6			chr11	TogoVar
CTSD_chr11_1747755_1768927	1754490	A A	AGAGGGAT others(9): Show AGAGGGATGTGGGGATG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	386	0.0026	16	c.828 others(31): Show c.828-368_828-353dupCATCCCCACATCCCTC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGGATGT others(9): Show GGGGATGTGGGGATGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 NA18974.hp2 HG00280.hp2 HG00642.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0100 a0001c0001t0001g0127 a0001c0001t0003g0118 a0001c0001t0001g0100 a0001c0001t0001g0127 a0001c0001t0003g0118	3	386	0.0078	16	c.827 others(31): Show c.827+380_827+381insTCCATCCCCACATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSF_chr11_66558464_66573606	66571636	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01358.hp2 HG01516.hp1 others(5): Show HG01346.hp1 HG01358.hp2 HG01516.hp1 HG01934.hp2 HG02965.hp1 HG03098.hp2 HG03834.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0002c0005t0002 a0002c0005t0005 a0001c0002t0002 a0002c0005t0002 a0002c0005t0005	a0001c0002t0002g0003 a0002c0005t0002g0009 a0002c0005t0005g0024 a0001c0002t0002g0003 a0002c0005t0002g0009 a0002c0005t0005g0024	8	412	0.0194	16	c.-31 others(27): Show c.-3151_-3150insTTTTTTTTTTTTTTTT	CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding		3031		chr11	TogoVar
CTSH_chr15_78916058_78950046	78924102	G G	GGGGGGGA others(9): Show GGGGGGGAGGGTGGGCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0272 a0002c0003t0002g0272	1	414	0.0024	16	c.807 others(31): Show c.807-985_807-984insTGCCCACCCTCCCCCC	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding	10/11			chr15	TogoVar
CTSH_chr15_78916058_78950046	78945098	A A	AGGGGCGG others(9): Show AGGGGCGGAGCGAGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 NA18957.hp2 NA18999.hp1 others(2): Show HG01943.hp2 NA18957.hp2 NA18999.hp1 NA19005.hp2 NA19060.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0003 a0001c0002t0001 a0004c0005t0003	a0001c0002t0001g0069 a0001c0002t0001g0080 a0001c0002t0001g0088 others(2): Show a0001c0002t0001g0069 a0001c0002t0001g0080 a0001c0002t0001g0088 a0001c0002t0001g0125 a0004c0005t0003g0005	5	414	0.0121	16	c.-13 others(25): Show c.-133_-118dupGCGCTCGCTCCGCCCC	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding		53		chr15	TogoVar
CTSK_chr1_150791208_150813260	150806997	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	392	0.0026	16	c.-1- others(29): Show c.-1-192_-1-191insGAGAGAGAGAGAGAGA	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSK_chr1_150791208_150813260	150807005	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	392	0.0026	16	c.-1- others(29): Show c.-1-215_-1-200dupGAGAGAGAGAGAGAGA	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112391990	C C	CAATAAAT others(9): Show CAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG03130.hp1 others(3): Show HG02647.hp1 HG02818.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0018 a0001c0002t0004 a0001c0005t0008 others(1): Show a0001c0001t0018 a0001c0002t0004 a0001c0005t0008 a0002c0004t0027	a0001c0001t0018g0268 a0001c0002t0004g0293 a0001c0002t0004g0294 others(3): Show a0001c0001t0018g0268 a0001c0002t0004g0293 a0001c0002t0004g0294 a0001c0005t0008g0132 a0001c0005t0008g0133 a0002c0004t0027g0274	6	324	0.0185	16	c.-44 others(27): Show c.-4416_-4415insAATAAATAAATAAATA	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4223		chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112465445	A A	AACACACA others(9): Show AACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp1 others(51): Show HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG01168.hp1 HG01175.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02523.hp1 HG02647.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03669.hp2 HG03927.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18953.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp2 NA18985.hp2 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19091.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0002t0002 a0001c0005t0008 a0001c0007t0014 a0001c0009t0012 a0002c0004t0007 a0003c0006t0011	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(51): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0005g0254 a0001c0001t0029g0135 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0005t0008g0299 a0001c0007t0014g0128 a0001c0007t0014g0129 a0001c0009t0012g0284 a0001c0009t0012g0286 a0002c0004t0007g0263 a0002c0004t0007g0270 a0002c0004t0007g0276 a0002c0004t0007g0295 a0003c0006t0011g0137 a0003c0006t0011g0151	54	324	0.1667	16	c.80 others(27): Show c.8033_*8034insACACACACACACACAC	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4282		chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117716027	T T	TTGGGGAA others(9): Show TTGGGGAAGAGTCCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02895.hp2 others(3): Show HG02258.hp1 HG02280.hp1 HG02895.hp2 HG02970.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0001t0001 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0045 a0001c0001t0001g0081 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0045 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0004t0001g0007 a0001c0004t0001g0123 a0001c0007t0001g0011	6	164	0.0366	16	c.474 others(35): Show c.4746+1975_4746+1990dupGAGGGACTCTTCCCCA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	22/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117817361	A A	ATAATATA others(9): Show ATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	164	0.0061	16	c.190 others(33): Show c.190-6373_190-6372insATATATATATATATTA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117871844	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01346.hp1 others(3): Show HG01257.hp1 HG01258.hp2 HG01346.hp1 HG02145.hp2 HG02165.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0002g0091 a0001c0001t0002g0156 a0001c0001t0002g0157	6	164	0.0366	16	c.81+ others(31): Show c.81+1475_81+1490dupTGTGTGTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117874981	C C	CTTATTTA others(9): Show CTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	164	0.0061	16	c.-15 others(27): Show c.-1567_-1566insATAAATAAATAAATAA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding		1541		chr7	TogoVar
CTXN3_chr5_127644082_127663630	127648103	C C	CTATCCTA others(9): Show CTATCCTATCCAGGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0052 a0001c0001t0020g0052	1	472	0.0021	16	c.-14 others(27): Show c.-1492_-1491insTATCCTATCCAGGATT	CTXN3	ENSG00000205279.9	transcript	ENST00000379445.8	protein_coding		978		chr5	TogoVar
CTXND1_chr15_80190481_80257213	80204647	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02129.hp1 HG02280.hp1 others(4): Show HG01891.hp2 HG02129.hp1 HG02280.hp1 HG03471.hp1 HG03540.hp1 NA19058.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0046 a0001c0001t0064 others(4): Show a0001c0001t0005 a0001c0001t0046 a0001c0001t0064 a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 a0001c0002t0081	a0001c0001t0005g0247 a0001c0001t0046g0070 a0001c0001t0064g0376 others(4): Show a0001c0001t0005g0247 a0001c0001t0046g0070 a0001c0001t0064g0376 a0001c0002t0003g0374 a0001c0002t0004g0111 a0001c0002t0014g0363 a0001c0002t0081g0360	7	396	0.0177	16	c.-21 others(33): Show c.-217-923_-217-908dupTATATATATATATATA	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CTXND2_chr1_150882136_150918292	150886473	T T	TACACACA others(9): Show TACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01257.hp1 HG01361.hp2 others(17): Show HG00609.hp1 HG01257.hp1 HG01361.hp2 HG01981.hp1 HG02004.hp2 HG02080.hp2 HG02735.hp1 HG03490.hp2 HG03704.hp2 HG03710.hp1 HG06807.hp1 NA18747.hp1 NA18947.hp1 NA18953.hp2 NA18970.hp1 NA18980.hp2 NA19030.hp2 NA19058.hp2 NA19068.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0048 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0001g0229 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0276	20	372	0.0538	16	c.-91 others(25): Show c.-914_-913insACACACACACACACAC	CTXND2	ENSG00000283324.1	transcript	ENST00000636087.1	protein_coding		662		chr1	TogoVar
CUBN_chr10_16818966_17134811	16862160	T T	TCTCTCAC others(9): Show TCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0107 a0107	a0107c0160 a0107c0160	a0107c0160t0001 a0107c0160t0001	a0107c0160t0001g0191 a0107c0160t0001g0191	1	192	0.0052	16	c.945 others(35): Show c.9454+7475_9454+7476insTGTGTGTGTGTGAGAG	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	59/66			chr10	TogoVar

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