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
CASZ1_chr1_10631604_10801646	10744344	C C	CGGCACCA others(17): Show CGGCACCACGAGCAGGCATGTCCTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02004.hp2 HG03688.hp2 others(4): Show HG01081.hp1 HG02004.hp2 HG03688.hp2 HG03710.hp1 HG06807.hp1 NA18747.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0002t0048 a0001c0003t0002 a0001c0009t0017	a0001c0001t0001g0192 a0001c0001t0003g0002 a0001c0002t0001g0107 others(4): Show a0001c0001t0001g0192 a0001c0001t0003g0002 a0001c0002t0001g0107 a0001c0002t0005g0030 a0001c0002t0048g0165 a0001c0003t0002g0100 a0001c0009t0017g0142	7	236	0.0297	24	c.-77 others(43): Show c.-77+16333_-77+16356dupCAGGACATGCCTGCTCGTGGTGCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744362	T T	TGTCCTGG others(17): Show TGTCCTGGGCACCACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG02970.hp2 HG02109.hp2 HG02809.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0024 a0001c0004t0002 a0001c0001t0001 a0001c0002t0024 a0001c0004t0002	a0001c0001t0001g0156 a0001c0002t0024g0159 a0001c0004t0002g0225 a0001c0001t0001g0156 a0001c0002t0024g0159 a0001c0004t0002g0225	3	236	0.0127	24	c.-77 others(43): Show c.-77+16338_-77+16339insGTGCCTGCTCGTGGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744386	T T	TGTCCTGG others(17): Show TGTCCTGGGCACCACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0085 a0001c0004t0022g0085	1	236	0.0042	24	c.-77 others(43): Show c.-77+16314_-77+16315insGTGCCTGCTCGTGGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744506	T T	TGTCCTGG others(17): Show TGTCCTGGGCACCACGAGCAGGCAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0040 a0003c0024t0040	a0003c0024t0040g0166 a0003c0024t0040g0166	1	236	0.0042	24	c.-77 others(43): Show c.-77+16194_-77+16195insGTGCCTGCTCGTGGTGCCCAGGAC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATIP_chr2_218351857_218373094	218357259	G G	GTCTCTCT others(17): Show GTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02602.hp2 HG03516.hp2 others(6): Show HG02027.hp1 HG02602.hp2 HG03516.hp2 HG03834.hp1 NA18522.hp1 NA18747.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0066 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071	9	366	0.0246	24	c.118 others(38): Show c.118+80_118+103dupCTCTCTCTCTCTCTCTCTCTCTCT	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(17): Show CTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18941.hp1 NA19054.hp2 HG00423.hp1 NA18941.hp1 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0144 a0002c0002t0002g0039 a0002c0002t0002g0144	3	392	0.0077	24	c.842 others(39): Show c.842+617_842+618insAAAAAAAAAAAAAAAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02970.hp2 others(4): Show HG01255.hp2 HG02109.hp2 HG02970.hp2 HG02976.hp2 HG03225.hp2 NA18973.hp2 NA19070.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0017 a0001c0001 a0002c0002 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0011c0017t0002	a0001c0001t0001g0103 a0001c0001t0002g0002 a0002c0002t0002g0003 others(2): Show a0001c0001t0001g0103 a0001c0001t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0010 a0011c0017t0002g0010	7	398	0.0176	24	c.39 others(35): Show c.3939_*3940insAAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91612012	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	271	0.0037	24	c.240 others(43): Show c.2401-1359_2401-1336dupGAAAGAAAGAAAGAAAGAAAGAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	20/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91661524	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	271	0.0037	24	c.128 others(43): Show c.1288-1567_1288-1544dupATATATATATATATATATATATAT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736501	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01978.hp1 others(29): Show HG00642.hp1 HG00733.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02735.hp2 HG03209.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18956.hp1 NA18959.hp1 NA18971.hp1 NA18974.hp1 NA18979.hp1 NA18992.hp2 NA18997.hp1 NA19012.hp2 NA19056.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0007 a0001c0001 a0001c0002 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0007c0007t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0155 a0001c0001t0002g0008 a0001c0001t0002g0033 a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0110 a0001c0002t0002g0135 a0007c0007t0001g0093	32	271	0.1181	24	c.-45 others(35): Show c.-4596_-4573dupCCTTCCTTCCTTCCTTCCTTCCTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4416		chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91736526	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01515.hp2 others(13): Show HG01167.hp1 HG01169.hp2 HG01515.hp2 HG02300.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG03130.hp2 HG03453.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp2 NA18944.hp2 NA18969.hp1 NA19009.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0029 others(13): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0064 a0001c0001t0002g0098 a0001c0002t0002g0085	16	271	0.0590	24	c.-45 others(35): Show c.-4598_-4597insGCCTTCCTTCCTTCCTTCCTTCCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding		4441		chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG04184.hp2 HG02615.hp1 HG04184.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0008c0009t0001 a0001c0001t0001 a0008c0009t0001	a0001c0001t0001g0220 a0008c0009t0001g0016 a0001c0001t0001g0220 a0008c0009t0001g0016	2	336	0.0060	24	c.-44 others(35): Show c.-4479_-4478insATATATATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5733305	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	336	0.0030	24	c.277 others(39): Show c.277-550_277-549insCTTTCTTTCTTTCTTTCTTTCTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp2 HG02970.hp2 HG03041.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0010 a0011c0008t0001g0014 a0011c0008t0001g0010 a0011c0008t0001g0014	2	336	0.0060	24	c.277 others(39): Show c.277-544_277-521dupTTTCTTTCTTTCTTTCTTTCTTTC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5741799	T T	TGGGGGGG others(17): Show TGGGGGGGGGGTGGGGGGTGGGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0034 a0006c0007t0001g0034	1	336	0.0030	24	c.573 others(41): Show c.573+2362_573+2363insGGGGGGGGTGGGGGGTGGGGGGGG	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0165 a0001c0001t0001g0166	2	336	0.0060	24	c.142 others(43): Show c.1428-1156_1428-1155insATATATATATATATATATATATTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01257.hp1 HG01258.hp2 others(5): Show HG01175.hp1 HG01257.hp1 HG01258.hp2 HG02015.hp1 HG04228.hp1 NA18974.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0003c0004t0001	a0001c0001t0001g0039 a0001c0001t0001g0121 a0002c0002t0001g0050 others(5): Show a0001c0001t0001g0039 a0001c0001t0001g0121 a0002c0002t0001g0050 a0002c0002t0001g0057 a0002c0002t0001g0276 a0002c0002t0003g0070 a0002c0002t0003g0072 a0003c0004t0001g0262	8	336	0.0238	24	c.142 others(43): Show c.1428-1156_1428-1155insATATATATATATATATATTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG01346.hp1 others(5): Show HG00438.hp2 HG01109.hp1 HG01346.hp1 HG02572.hp1 HG03704.hp1 HG04204.hp2 NA18944.hp2 NA18969.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0028	a0002c0002 a0002c0019 a0003c0004 others(3): Show a0002c0002 a0002c0019 a0003c0004 a0004c0003 a0006c0007 a0028c0029	a0002c0002t0001 a0002c0019t0001 a0003c0004t0001 others(3): Show a0002c0002t0001 a0002c0019t0001 a0003c0004t0001 a0004c0003t0001 a0006c0007t0001 a0028c0029t0001	a0002c0002t0001g0049 a0002c0002t0001g0073 a0002c0002t0001g0116 others(5): Show a0002c0002t0001g0049 a0002c0002t0001g0073 a0002c0002t0001g0116 a0002c0019t0001g0332 a0003c0004t0001g0188 a0004c0003t0001g0307 a0006c0007t0001g0034 a0028c0029t0001g0264	8	336	0.0238	24	c.142 others(43): Show c.1428-1156_1428-1155insATATATATATATATATTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01074.hp1 others(9): Show HG00323.hp2 HG00642.hp2 HG01074.hp1 HG01081.hp1 HG01993.hp1 HG02004.hp1 HG02293.hp2 HG03669.hp1 NA18943.hp2 NA18963.hp2 NA18971.hp1 NA19054.hp1	a0002 a0020 a0002 a0020	a0002c0002 a0002c0019 a0020c0021 a0002c0002 a0002c0019 a0020c0021	a0002c0002t0001 a0002c0019t0001 a0020c0021t0001 a0002c0002t0001 a0002c0019t0001 a0020c0021t0001	a0002c0002t0001g0114 a0002c0002t0001g0119 a0002c0002t0001g0120 others(9): Show a0002c0002t0001g0114 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0193 a0002c0002t0001g0197 a0002c0002t0001g0215 a0002c0002t0001g0238 a0002c0002t0001g0250 a0002c0002t0001g0258 a0002c0002t0001g0271 a0002c0019t0001g0330 a0020c0021t0001g0019	12	336	0.0357	24	c.142 others(43): Show c.1428-1156_1428-1155insATATATATATATATTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01975.hp2 HG01978.hp2 others(1): Show HG00323.hp1 HG01975.hp2 HG01978.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0066 a0002c0002t0001g0068 others(1): Show a0002c0002t0001g0043 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0118	4	336	0.0119	24	c.142 others(43): Show c.1428-1156_1428-1155insATATATATATATTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0012 a0011c0008t0001g0012	1	336	0.0030	24	c.142 others(43): Show c.1428-1156_1428-1155insATATATATATTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0236	1	336	0.0030	24	c.142 others(43): Show c.1428-1156_1428-1155insATATATATTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0270 a0002c0002t0001g0270	1	336	0.0030	24	c.150 others(41): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244623058	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01978.hp2 NA18984.hp1 others(1): Show HG01928.hp2 HG01978.hp2 NA18984.hp1 NA19081.hp2	a0001 a0012 a0001 a0012	a0001c0002 a0012c0012 a0001c0002 a0012c0012	a0001c0002t0004 a0012c0012t0002 a0001c0002t0004 a0012c0012t0002	a0001c0002t0004g0184 a0001c0002t0004g0187 a0001c0002t0004g0203 others(1): Show a0001c0002t0004g0184 a0001c0002t0004g0187 a0001c0002t0004g0203 a0012c0012t0002g0037	4	206	0.0194	24	c.264 others(43): Show c.2648+5380_2648+5403dupATTTATTTATTTATTTATTTATTT	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38342216	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19070.hp2 HG02300.hp2 NA19070.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0120 a0003c0004t0001g0121 a0003c0004t0001g0120 a0003c0004t0001g0121	2	376	0.0053	24	c.325 others(41): Show c.325-1355_325-1332dupAAATAAATAAATAAATAAATAAAT	CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116523234	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02257.hp2 HG00738.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0213 a0001c0001t0005g0321 a0001c0001t0001g0213 a0001c0001t0005g0321	2	342	0.0059	24	c.-18 others(35): Show c.-1829_-1828insAAGGAAGGAAGGAAGGAAGGAAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		1801		chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0324 a0001c0001t0002g0324	1	342	0.0029	24	c.195 others(41): Show c.195+7707_195+7708insATATATATATATATATATATATTT	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(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	342	0.0029	24	c.195 others(41): Show c.195+7707_195+7708insATATATATATATATATATTTTTTT	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(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18993.hp2 HG02647.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0124 a0001c0001t0002g0222 a0001c0001t0001g0124 a0001c0001t0002g0222	2	342	0.0059	24	c.195 others(41): Show c.195+7707_195+7708insATATATATATATTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555518	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	342	0.0029	24	c.196 others(41): Show c.196-3425_196-3424insAAGAAAGAAAGAAAGAGAGAGAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116561945	G G	GAGATAGA others(17): Show GAGATAGAGATATATAGAGACAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	342	0.0029	24	c.26 others(35): Show c.2658_*2659insAGATAGAGATATATAGAGACAGAT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding		767		chr7	TogoVar
CAV2_chr7_116494738_116513541	116498910	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 NA18942.hp1 NA19054.hp1 HG03927.hp1 NA18942.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0003t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0003t0001g0001	3	374	0.0080	24	c.-87 others(33): Show c.-872_-871insCACACACACACACACACACACACA	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		827		chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG01943.hp1 others(22): Show HG00741.hp1 HG01175.hp2 HG01943.hp1 HG01978.hp1 HG02080.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp1 HG02970.hp2 HG03209.hp1 HG03239.hp2 HG03654.hp2 HG03710.hp1 HG04228.hp2 NA18522.hp1 NA18982.hp2 NA18987.hp1 NA18999.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19072.hp1 NA19076.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0003t0001 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0027 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0006g0001 a0001c0001t0011g0001 a0001c0001t0012g0001 a0001c0003t0001g0001 a0002c0002t0004g0004 a0002c0002t0004g0031	25	374	0.0668	24	c.-85 others(33): Show c.-859_-858insACACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CAV3_chr3_8728802_8751758	8746799	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0020 a0001c0006t0004g0020	1	476	0.0021	24	c.93 others(33): Show c.932_*933insCACACACACACACACACACACACA	CAV3	ENSG00000182533.7	transcript	ENST00000343849.3	protein_coding		42		chr3	TogoVar
CAVIN1_chr17_42397449_42428256	42401668	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA18522.hp2 HG02622.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0066 a0001c0001t0003g0070	2	338	0.0059	24	c.30 others(35): Show c.3018_*3019insTTTCTTTCTTTCTTTCTTTCTTTC	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding		780		chr17	TogoVar
CAVIN1_chr17_42397449_42428256	42411192	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03654.hp1 HG02258.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0101 a0001c0001t0006g0064 a0001c0001t0006g0101	2	338	0.0059	24	c.472 others(41): Show c.472-5805_472-5804insTTTTTTTTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CAVIN2_chr2_191829310_191852088	191850653	A A	AAAAAATT others(17): Show AAAAAATTTTTTTAATTTTATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	382	0.0026	24	c.-37 others(35): Show c.-3729_-3728insAAATATAAAATTAAAAAAATTTTT	CAVIN2	ENSG00000168497.5	transcript	ENST00000304141.5	protein_coding		3566		chr2	TogoVar
CBFA2T2_chr20_33485096_33655030	33545439	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01516.hp1 others(18): Show HG01175.hp2 HG01243.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02572.hp2 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG03017.hp1 HG03688.hp2 HG03834.hp2 HG06807.hp2 NA18968.hp1 NA18982.hp2 NA18988.hp2 NA19001.hp1 NA19010.hp1 NA19062.hp2 NA19064.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0021 a0001c0002t0020 a0001c0003t0001	a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0245 others(18): Show a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0267 a0001c0001t0001g0276 a0001c0001t0007g0012 a0001c0001t0011g0066 a0001c0001t0018g0120 a0001c0001t0018g0121 a0001c0001t0021g0265 a0001c0001t0021g0278 a0001c0002t0020g0271 a0001c0003t0001g0226 a0001c0003t0001g0231 a0001c0003t0001g0297	21	298	0.0705	24	c.34+ others(41): Show c.34+55149_34+55172dupTTTCTTTCTTTCTTTCTTTCTTTC	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545470	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCTTTCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0062 a0001c0001t0011g0062	1	298	0.0034	24	c.34+ others(41): Show c.34+55172_34+55173insTTTCTTTCTTTCTTTCTTTCGTTC	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02015.hp1 others(6): Show HG01243.hp1 HG01261.hp1 HG02015.hp1 HG03017.hp1 NA18941.hp1 NA18968.hp1 NA18988.hp2 NA19070.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0041 a0001c0003t0001 a0001c0001t0001 a0001c0001t0041 a0001c0003t0001	a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0247 others(6): Show a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0276 a0001c0001t0041g0273 a0001c0003t0001g0226 a0001c0003t0001g0229 a0001c0003t0001g0233 a0001c0003t0001g0281	9	298	0.0302	24	c.510 others(41): Show c.510+1684_510+1707dupTTTTTTTTTTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(17): Show GCACACATGCACACACACATGCACA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0032 a0001c0008t0014 a0001c0008t0032	a0001c0008t0014g0167 a0001c0008t0032g0146 a0001c0008t0014g0167 a0001c0008t0032g0146	2	284	0.0070	24	c.380 others(41): Show c.380-1970_380-1969insTGTGCATGTGTGTGTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88963253	A A	ATCTTCTG others(17): Show ATCTTCTGCCAGGGGTGGGCGCTCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00642.hp2 others(58): Show HG00099.hp2 HG00140.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02698.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18952.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19043.hp1 NA19079.hp2 NA19085.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0020 a0002c0004 a0005c0012 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0031 a0001c0002t0005 a0001c0002t0035 a0001c0003t0001 a0001c0003t0002 a0001c0003t0011 a0001c0005t0012 a0001c0005t0028 a0001c0008t0014 a0001c0008t0032 a0001c0009t0007 a0001c0020t0029 a0002c0004t0001 a0005c0012t0001 a0009c0019t0001	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 others(58): Show a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0265 a0001c0001t0009g0135 a0001c0001t0016g0023 a0001c0001t0020g0262 a0001c0001t0025g0099 a0001c0001t0031g0232 a0001c0002t0005g0005 a0001c0002t0035g0284 a0001c0003t0001g0252 a0001c0003t0002g0253 a0001c0003t0011g0007 a0001c0005t0012g0184 a0001c0005t0028g0249 a0001c0008t0014g0167 a0001c0008t0032g0146 a0001c0009t0007g0100 a0001c0020t0029g0111 a0002c0004t0001g0138 a0002c0004t0001g0149 a0005c0012t0001g0121 a0009c0019t0001g0207	61	284	0.2148	24	c.151 others(43): Show c.151+13380_151+13403dupCGAGCGCCCACCCCTGGCAGAAGA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFB_chr16_67024149_67106058	67080228	C C	CGATGGCT others(17): Show CGATGGCTGTGTGGTAGATTGGGTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	212	0.0047	24	c.400 others(41): Show c.400-1982_400-1959dupTGGCTGTGTGGTAGATTGGGTTGA	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(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	212	0.0047	24	c.496 others(41): Show c.496-6003_496-5980dupTTTTTTTTTTTTTTTTTTTTTTTT	CBFB	ENSG00000067955.15	transcript	ENST00000412916.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBLIF_chr11_59824273_59850499	59834307	T T	TCTTCCTT others(17): Show TCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	342	0.0029	24	c.107 others(43): Show c.1073+1500_1073+1501insGAAGGAAGGAAGGAAGGAAGGAAG	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8			chr11	TogoVar
CBLIF_chr11_59824273_59850499	59834311	T T	TCTTTCTT others(17): Show TCTTTCTTTCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0231 a0002c0002t0001g0231	1	342	0.0029	24	c.107 others(43): Show c.1073+1496_1073+1497insGAAGGAAGGAAGGAAGAAAGAAAG	CBLIF	ENSG00000134812.8	transcript	ENST00000257248.3	protein_coding	7/8			chr11	TogoVar
CBL_chr11_119201339_119313149	119244581	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG04199.hp2 HG02572.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0049 a0001c0001t0010 a0001c0001t0049	a0001c0001t0010g0361 a0001c0001t0049g0231 a0001c0001t0010g0361 a0001c0001t0049g0231	2	364	0.0055	24	c.443 others(43): Show c.443+11904_443+11905insTTTTTTTTTTTTTTTTTTTTTTTT	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(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0023 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0002g0023 a0001c0001t0005g0019 a0001c0001t0005g0020	3	364	0.0082	24	c.100 others(41): Show c.1008-517_1008-516insACACACACACACACACACACACAC	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36146917	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02572.hp2 HG03516.hp1 others(5): Show HG00597.hp1 HG02572.hp2 HG03516.hp1 HG03516.hp2 HG04115.hp1 HG04115.hp2 NA19030.hp2 NA19076.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0004c0006t0001 a0002c0002t0001 a0004c0006t0001	a0002c0002t0001g0002 a0002c0002t0001g0025 a0002c0002t0001g0090 others(5): Show a0002c0002t0001g0002 a0002c0002t0001g0025 a0002c0002t0001g0090 a0002c0002t0001g0106 a0002c0002t0001g0122 a0004c0006t0001g0019 a0004c0006t0001g0142 a0004c0006t0001g0144	8	424	0.0189	24	c.40 others(33): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		356		chr21	TogoVar
CBR3_chr21_36130079_36151562	36146919	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	424	0.0024	24	c.40 others(33): Show c.407_*408insTTTTTTTTTTTTTTTTTTTTTTTT	CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding		358		chr21	TogoVar

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