Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAV1_chr7_116520036_116566179	116523187	A A	AAGAAAGG others(11): Show AAGAAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	342	0.0029	18	c.-18 others(29): Show c.-1876_-1875insAGAAAGGAAGGAAGGAAG		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding					1848		chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	342	0.0029	18	c.195 others(35): Show c.195+7707_195+7708insATATATATATATATTTTT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	342	0.0029	18	c.195 others(35): Show c.195+7707_195+7708insATATATATATTTTTTTTT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	342	0.0029	18	c.195 others(35): Show c.195+7707_195+7708insATATATATTTTTTTTTTT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01517.hp1 NA18975.hp2 others(1): Show HG00323.hp1 HG01517.hp1 NA18975.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 others(1): Show a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236	4	342	0.0117	18	c.195 others(35): Show c.195+7707_195+7708insATATATTTTTTTTTTTTT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03492.hp2 HG03209.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0002g0243 a0001c0001t0001g0153 a0001c0001t0002g0243	2	342	0.0059	18	c.195 others(35): Show c.195+7707_195+7708insATTTTTTTTTTTTTTTTT		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116546697	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	342	0.0029	18	c.196 others(37): Show c.196-12232_196-12231insAAAAAAAAAAAAAAAAAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555520	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	342	0.0029	18	c.196 others(35): Show c.196-3425_196-3424insAAGAAAGAAAGAAAGAAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555542	G G	GAGAGAGA others(11): Show GAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	342	0.0029	18	c.196 others(35): Show c.196-3401_196-3400insGAGAGAAAGAAAGAAAGA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555542	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	342	0.0029	18	c.196 others(35): Show c.196-3401_196-3400insGAGAGAGAGAAAGAAAGA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG02630.hp2 others(1): Show HG00735.hp2 HG01175.hp1 HG02630.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0022 a0002c0002t0004 a0002c0002t0022	a0002c0002t0004g0004 a0002c0002t0004g0032 a0002c0002t0022g0004 a0002c0002t0004g0004 a0002c0002t0004g0032 a0002c0002t0022g0004	4	374	0.0107	18	c.-85 others(27): Show c.-859_-858insACACACACACACACACAC		CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding					814		chr7	TogoVar
CAV3_chr3_8728802_8751758	8746799	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02145.hp1 others(12): Show HG01109.hp1 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0003 a0001c0003t0003 a0001c0005t0003	a0001c0003t0003g0087 a0001c0003t0003g0138 a0001c0003t0003g0152 others(5): Show a0001c0003t0003g0087 a0001c0003t0003g0138 a0001c0003t0003g0152 a0001c0003t0003g0166 a0001c0005t0003g0006 a0001c0005t0003g0135 a0001c0005t0003g0136 a0001c0005t0003g0137	15	476	0.0315	18	c.93 others(27): Show c.932_*933insCTCACACACACACACACA		CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding					42		chr3	TogoVar
CAV3_chr3_8728802_8751758	8746799	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0165 a0001c0003t0003g0165	1	476	0.0021	18	c.93 others(27): Show c.932_*933insCTCTCACACACACACACA		CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding					42		chr3	TogoVar
CAV3_chr3_8728802_8751758	8746804	C C	CACACACA others(11): Show CACACACACACACACACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01515.hp2 others(3): Show HG00733.hp2 HG01123.hp1 HG01515.hp2 HG01517.hp1 HG02165.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0014 a0001c0007t0005 a0001c0003t0014 a0001c0007t0005	a0001c0003t0014g0062 a0001c0007t0005g0042 a0001c0007t0005g0078 others(2): Show a0001c0003t0014g0062 a0001c0007t0005g0042 a0001c0007t0005g0078 a0001c0007t0005g0079 a0001c0007t0005g0080	6	476	0.0126	18	c.93 others(27): Show c.937_*938insACACACACACACACACAA		CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding					47		chr3	TogoVar
CAVIN1_chr17_42397449_42428256	42405289	G G	GCTCGCCC others(11): Show GCTCGCCCTCGCCCAGCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0006 a0002c0011t0006	a0002c0011t0006g0091 a0002c0011t0006g0091	1	338	0.0030	18	c.553 others(25): Show c.553_570dupGAGCTGGGCGAGGGCGAG	p.Glu others(31): Show p.Glu190_Arg191insGluLeuGlyGluGlyGlu	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	2/2	729/3570	570/1173	190/390			chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42411207	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp1 HG01884.hp1 others(39): Show HG00673.hp2 HG01255.hp1 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG03490.hp1 HG03688.hp1 HG04115.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19054.hp1 NA19054.hp2 NA19066.hp2 NA19068.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0006t0002 a0001c0008t0002	a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0243 others(36): Show a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0004g0012 a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0127 a0001c0001t0004g0132 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0175 a0001c0001t0004g0225 a0001c0001t0004g0237 a0001c0001t0009g0252 a0001c0001t0009g0287 a0001c0001t0012g0203 a0001c0001t0016g0296 a0001c0001t0016g0298 a0001c0001t0017g0248 a0001c0001t0017g0274 a0001c0001t0018g0246 a0001c0001t0022g0119 a0001c0001t0023g0060 a0001c0006t0002g0029 a0001c0008t0002g0239	42	338	0.1243	18	c.472 others(35): Show c.472-5820_472-5819insGTTTTTTTTTTTTTTTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33494243	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	298	0.0034	18	c.34+ others(33): Show c.34+3943_34+3944insGTATATATATATATATAT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33494243	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	298	0.0034	18	c.34+ others(33): Show c.34+3943_34+3944insGTGTATATATATATATAT		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88882436	T T	TGTGGCTG others(11): Show TGTGGCTGTGTGCGTGGGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0116 a0001c0001t0033g0116	1	284	0.0035	18	c.120 others(35): Show c.1203+222_1203+239dupGCCCACGCACACAGCCAC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	8/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888588	T T	TGGGGTGG others(11): Show TGGGGTGGGGTGGGTGGGA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	284	0.0035	18	c.712 others(35): Show c.712-2464_712-2447dupTCCCACCCACCCCACCCC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88960046	T T	TAAAATAA others(11): Show TAAAATAAATAAATAAATC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0025 a0001c0009t0007 a0001c0001t0025 a0001c0009t0007	a0001c0001t0025g0099 a0001c0009t0007g0100 a0001c0001t0025g0099 a0001c0009t0007g0100	2	284	0.0070	18	c.151 others(37): Show c.151+16593_151+16610dupGATTTATTTATTTATTTT		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFB_chr16_67024149_67106058	67055357	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	212	0.0047	18	c.283 others(37): Show c.283-11315_283-11298dupTTTTTTTTTTTTTTTTTT		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67066393	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 NA19056.hp1 others(2): Show HG03041.hp1 HG03130.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0058 a0001c0002t0003g0008 a0001c0002t0003g0045 others(2): Show a0001c0001t0001g0058 a0001c0002t0003g0008 a0001c0002t0003g0045 a0001c0002t0003g0051 a0001c0002t0003g0053	5	212	0.0236	18	c.283 others(33): Show c.283-272_283-271insAAAAAAAAAAAAAAAAAA		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67074451	C C	CAGCTCAC others(11): Show CAGCTCACTGTAACCTCTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	212	0.0047	18	c.399 others(35): Show c.399+7654_399+7671dupAGCTCACTGTAACCTCTG		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFB_chr16_67024149_67106058	67092698	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0026 a0001c0001t0013g0026	1	212	0.0047	18	c.496 others(35): Show c.496-5997_496-5980dupTTTTTTTTTTTTTTTTTT		CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLB_chr3_105650461_105874012	105665434	T T	TATATACA others(11): Show TATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0279 a0001c0012t0002g0279	1	380	0.0026	18	c.268 others(37): Show c.2689+4798_2689+4799insGTGTGTGTGTGTGTATAT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105754527	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0188 a0001c0001t0009g0188	1	380	0.0026	18	c.567 others(35): Show c.567-2910_567-2909insGTCTCTCTCTCTCTCTCT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	4/18						chr3	TogoVar
CBLB_chr3_105650461_105874012	105754529	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0185 a0001c0001t0009g0185	1	380	0.0026	18	c.567 others(35): Show c.567-2912_567-2911insGTCTCTCTCTCTCTCTCT		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	4/18						chr3	TogoVar
CBLIF_chr11_59824273_59850499	59827460	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01993.hp2 HG01243.hp2 HG01993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0075 a0002c0002t0001g0229 a0001c0001t0001g0075 a0002c0002t0001g0229	2	342	0.0059	18	c.20 others(29): Show c.2023_*2024insGTGTGTGTGTGTGTGTGT		CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding					1812		chr11	TogoVar
CBLIF_chr11_59824273_59850499	59827486	C C	CACACACA others(11): Show CACACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG03139.hp1 HG02723.hp2 HG02896.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0221 a0002c0002t0001g0224 a0002c0002t0001g0225	3	342	0.0088	18	c.19 others(29): Show c.1997_*1998insATGTGTGTGTGTGTGTGT		CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding					1786		chr11	TogoVar
CBLL2_chrX_22267913_22279461	22271960	G G	GGTTTTTT others(11): Show GGTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	346	0.0029	18	c.-10 others(29): Show c.-1032_-1031insGTTTTTTTTTTTTTTTTT		CBLL2	ENSG00000175809.6	transcript	ENST00000323684.4	protein_coding					952		chrX	TogoVar
CBL_chr11_119201339_119313149	119206289	C C	CCGGTGGC others(11): Show CCGGTGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0132 a0001c0001t0009g0133	2	364	0.0055	18	c.-12 others(27): Show c.-129_-128insCGGTGGCGGCGGCGGCGG		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding					49		chr11	TogoVar
CBL_chr11_119201339_119313149	119244581	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00639.hp2 others(44): Show HG00099.hp2 HG00408.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01255.hp2 HG01496.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp2 HG02273.hp2 HG02280.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp2 NA18947.hp1 NA18956.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19006.hp1 NA19009.hp2 NA19060.hp2 NA19064.hp1 NA19081.hp1 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0010 a0001c0001 a0002c0003 a0006c0010	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0025 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0002c0003t0002 a0006c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0139 a0001c0001t0001g0155 others(44): Show a0001c0001t0001g0010 a0001c0001t0001g0139 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0009g0177 a0001c0001t0009g0184 a0001c0001t0010g0341 a0001c0001t0010g0360 a0001c0001t0011g0168 a0001c0001t0011g0175 a0001c0001t0016g0232 a0001c0001t0025g0017 a0001c0001t0051g0137 a0001c0001t0053g0206 a0001c0001t0055g0194 a0001c0001t0056g0215 a0002c0003t0002g0202 a0006c0010t0001g0142	47	364	0.1291	18	c.443 others(37): Show c.443+11887_443+11904dupTTTTTTTTTTTTTTTTTT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119277239	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp1 HG02809.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0263 a0001c0001t0002g0266	2	364	0.0055	18	c.100 others(35): Show c.1008-517_1008-516insACACACACACACACACAC		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119277241	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02970.hp2 HG03130.hp1 HG01515.hp2 HG02970.hp2 HG03130.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0005 a0007c0009t0002 a0001c0001t0005 a0007c0009t0002	a0001c0001t0005g0240 a0001c0001t0005g0241 a0007c0009t0002g0306 a0001c0001t0005g0240 a0001c0001t0005g0241 a0007c0009t0002g0306	3	364	0.0082	18	c.100 others(35): Show c.1008-503_1008-486dupCACACACACACACACACA		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBL_chr11_119201339_119313149	119283625	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19063.hp2 HG03710.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0156 a0001c0001t0001g0170	2	364	0.0055	18	c.143 others(37): Show c.1432-1331_1432-1314dupTTTTTTTTTTTTTTTTTT		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36142431	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	424	0.0024	18	c.398 others(35): Show c.398-3628_398-3627insAAAAAAAAAAAAAAAAAA		CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr21	TogoVar
CBR3_chr21_36130079_36151562	36146919	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	424	0.0024	18	c.40 others(27): Show c.407_*408insTTTTTTTTTTTTTTTTTT		CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding					358		chr21	TogoVar
CBR3_chr21_36130079_36151562	36146921	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0168 a0003c0008t0002g0168	1	424	0.0024	18	c.40 others(27): Show c.409_*410insTTTTTTTTTTTTTTTTTT		CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding					360		chr21	TogoVar
CBX1_chr17_48065059_48106478	48073824	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01981.hp1 HG02155.hp2 others(14): Show HG01891.hp2 HG01981.hp1 HG02155.hp2 HG02683.hp2 HG03579.hp1 HG03688.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18961.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp1 NA18995.hp1 NA19000.hp2 NA19087.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0062 others(14): Show a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0007g0009 a0001c0001t0007g0010	17	396	0.0429	18	c.413 others(35): Show c.413+1164_413+1181dupTTTTTTTTTTTTTTTTTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	4/4						chr17	TogoVar
CBX1_chr17_48065059_48106478	48105324	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03209.hp2 HG01069.hp1 HG01071.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0112 a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0112	3	396	0.0076	18	c.-41 others(29): Show c.-4112_-4095dupAAAAAAAAAAAAAAAAAA		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding					3847		chr17	TogoVar
CBY1_chr22_38651638_38678850	38674839	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02486.hp2 HG03471.hp1 HG01433.hp1 HG02486.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0154 a0001c0001t0001g0048 a0001c0001t0001g0154	3	384	0.0078	18	c.16 others(29): Show c.1603_*1604insAAAAAAAAAAAAAAAAAA		CBY1	ENSG00000100211.12	transcript	ENST00000216029.8	protein_coding					990		chr22	TogoVar
CBY3_chr5_179673560_179686034	179676225	T T	TACACACA others(11): Show TACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	412	0.0024	18	c.23 others(29): Show c.2357_*2358insGTGTGTGTGTGTGTGTGT		CBY3	ENSG00000204659.5	transcript	ENST00000376974.5	protein_coding					2334		chr5	TogoVar
CC2D2A_chr4_15464882_15606552	15500101	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	344	0.0029	18	c.248 others(35): Show c.248-2327_248-2326insATATATATATATATATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2B_chr10_95902975_96038745	95926840	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0022 a0022	a0022c0038 a0022c0038	a0022c0038t0001 a0022c0038t0001	a0022c0038t0001g0005 a0022c0038t0001g0005	1	312	0.0032	18	c.241 others(33): Show c.241-390_241-389insGTGTGTGTGTCTGTGTGT		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95926844	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0007 a0004c0023t0007	a0004c0023t0007g0173 a0004c0023t0007g0173	1	312	0.0032	18	c.241 others(33): Show c.241-390_241-389insGTGTGTGTGTGTGTCTGT		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95926846	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0095 a0004c0004t0001g0095	1	312	0.0032	18	c.241 others(33): Show c.241-390_241-389insGTGTGTGTGTGTGTGTCT		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	5/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95947082	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0209 a0005c0006t0001g0209	1	312	0.0032	18	c.802 others(35): Show c.802-2813_802-2812insAAAAAAAAAAAAAATATA		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	9/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96003586	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0001 a0020c0031t0001	a0020c0031t0001g0123 a0020c0031t0001g0123	1	312	0.0032	18	c.285 others(35): Show c.2850-540_2850-523dupGTGTGTGTGTGTGTGTGT		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	24/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96025168	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0161 a0004c0004t0001g0161	1	312	0.0032	18	c.394 others(35): Show c.3947+258_3947+259insAAAAAAAAAAAAAAAAAA		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	33/34					INFO_REALIGN_3_PRIME	chr10	TogoVar

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