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
C9_chr5_39279140_39369495	39359102	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG02602.hp2 others(1): Show HG01074.hp1 HG01109.hp2 HG02602.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 others(1): Show a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0002g0291	4	394	0.0102	24	c.77+ others(39): Show c.77+5285_77+5286insTATATATATATATATATATACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01934.hp2 NA18975.hp2 others(3): Show HG01109.hp1 HG01934.hp2 NA18975.hp2 NA18991.hp2 NA18993.hp2 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0340 a0002c0002t0001g0342 a0002c0002t0001g0359 others(3): Show a0002c0002t0001g0340 a0002c0002t0001g0342 a0002c0002t0001g0359 a0002c0002t0001g0361 a0002c0002t0002g0339 a0002c0002t0002g0341	6	394	0.0152	24	c.77+ others(39): Show c.77+5285_77+5286insTATATATATATATATATACACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0014 a0001c0001t0014g0014	1	466	0.0022	24	c.20 others(35): Show c.2031_*2054dupTTTTTTTTTTTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf153_chr9_86215265_86264657	86251914	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02258.hp2 HG03209.hp1 others(2): Show HG02155.hp1 HG02258.hp2 HG03209.hp1 NA19076.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0112 a0001c0001t0002g0143 a0001c0001t0002g0144 others(2): Show a0001c0001t0002g0112 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0003g0184 a0001c0001t0003g0299	5	384	0.0130	24	c.-27 others(41): Show c.-27+7612_-27+7635dupGTGTGTGTGTGTGTGTGTGTGTGT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
C9orf57_chr9_72046376_72065613	72055354	T T	TTCCCTCC others(17): Show TTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp2 HG01433.hp1 others(3): Show HG00738.hp2 HG01261.hp2 HG01433.hp1 HG02015.hp2 HG03516.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0236 a0001c0001t0002g0033 a0001c0001t0002g0168 others(1): Show a0001c0001t0001g0236 a0001c0001t0002g0033 a0001c0001t0002g0168 a0001c0001t0003g0277	6	450	0.0133	24	c.280 others(39): Show c.280+719_280+720insGGGAGGGAGGGAGGGAGGGAGGGA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
C9orf57_chr9_72046376_72065613	72055374	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02257.hp2 HG02615.hp1 others(5): Show HG02080.hp2 HG02257.hp2 HG02615.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18975.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0205 others(4): Show a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0244 a0001c0001t0001g0264 a0001c0002t0002g0145	8	450	0.0178	24	c.280 others(39): Show c.280+699_280+700insAGGAGGGAGGGAGGGAGGGAGGGA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
C9orf57_chr9_72046376_72065613	72055374	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18947.hp2 NA19012.hp2 HG02976.hp1 NA18947.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0220 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0220	3	450	0.0067	24	c.280 others(39): Show c.280+699_280+700insAGGAAGGAGGGAGGGAGGGAGGGA	C9orf57	ENSG00000204669.11	transcript	ENST00000651200.2	protein_coding	4/4			chr9	TogoVar
C9orf72_chr9_27541546_27578481	27572636	C C	CCCCTCCT others(17): Show CCCCTCCTGGGAAAGTGCAGGACCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0070 a0001c0001t0006g0070	1	438	0.0023	24	c.-45 others(39): Show c.-45+771_-45+794dupAGGTCCTGCACTTTCCCAGGAGGG	C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding	1/10			chr9	TogoVar
C9orf72_chr9_27541546_27578481	27573523	C C	CGCCCCGG others(17): Show CGCCCCGGCCCCGGCCCCGGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00621.hp2 others(41): Show HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG01123.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG02818.hp2 HG03041.hp2 HG03654.hp1 HG03831.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA18979.hp2 NA18987.hp2 NA18991.hp1 NA19055.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0014 a0001c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0015	a0001c0001t0003g0038 a0001c0001t0003g0159 a0001c0001t0003g0176 others(26): Show a0001c0001t0003g0038 a0001c0001t0003g0159 a0001c0001t0003g0176 a0001c0001t0014g0202 a0001c0002t0001g0248 a0001c0002t0002g0004 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0266 a0001c0002t0005g0264 a0001c0002t0005g0265 a0001c0002t0015g0259	44	438	0.1005	24	c.-13 others(33): Show c.-138_-137insCGGGGCCGGGGCCGGGGCCGGGGC	C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding		43		chr9	TogoVar
C9orf78_chr9_129822290_129840275	129824606	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	386	0.0026	24	c.35 others(35): Show c.3554_*3555insATTATTATTATTATTATTATTATT	C9orf78	ENSG00000136819.15	transcript	ENST00000372447.7	protein_coding		2683		chr9	TogoVar
CA10_chr17_51625320_52163714	51831675	G G	GCAGCAGC others(17): Show GCAGCAGCAGCAGCAGCAGCAGCAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp2 HG03139.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0154 a0001c0001t0003g0101 a0001c0001t0001g0154 a0001c0001t0003g0101	2	156	0.0128	24	c.280 others(43): Show c.280-83858_280-83857insATGCTGCTGCTGCTGCTGCTGCTG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51878890	A A	ATATATAT others(17): Show ATATATATATATATATATGGGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	156	0.0064	24	c.279 others(43): Show c.279+52099_279+52100insCACACCCATATATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA12_chr15_63316378_63386846	63376557	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01071.hp2 HG01074.hp2 others(30): Show HG00544.hp1 HG01071.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02809.hp2 HG03130.hp2 HG03195.hp2 HG03540.hp1 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18940.hp2 NA18948.hp2 NA18973.hp2 NA18977.hp2 NA18988.hp1 NA19007.hp2 NA19012.hp1 NA19074.hp1 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0002t0019	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0036 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0001g0102 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0335 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0094 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0162 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0072 a0001c0001t0008g0160 a0001c0001t0008g0164 a0001c0001t0011g0070 a0001c0001t0012g0165 a0001c0001t0017g0340 a0001c0001t0032g0155 a0001c0001t0038g0158 a0001c0001t0039g0159 a0001c0001t0041g0101 a0001c0002t0019g0163	33	356	0.0927	24	c.86- others(37): Show c.86-903_86-880dupAAAGAAAGAAAGAAAGAAAGAAAG	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0128 a0001c0001t0017g0129 a0001c0001t0017g0128 a0001c0001t0017g0129	2	356	0.0056	24	c.86- others(37): Show c.86-923_86-922insGAGAAAGAAAGAAAGAAAGAAAGA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87937767	T T	TTTTCTTT others(17): Show TTTTCTTTATTTATTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	400	0.0025	24	c.-13 others(35): Show c.-1318_-1317insGAAAGAAAGAAATAAATAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1239		chr16	TogoVar
CA5A_chr16_87883013_87941529	87937767	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19067.hp2 NA19060.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0035 a0001c0004t0001g0034 a0001c0001t0001g0035 a0001c0004t0001g0034	2	400	0.0050	24	c.-13 others(35): Show c.-1318_-1317insGAAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1239		chr16	TogoVar
CA5A_chr16_87883013_87941529	87938775	C C	CTCACTCA others(17): Show CTCACTCACACGCGCGCTATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	400	0.0025	24	c.-23 others(35): Show c.-2326_-2325insATAATATAGCGCGCGTGTGAGTGA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		2247		chr16	TogoVar
CA5A_chr16_87883013_87941529	87938807	C C	CTCATTCA others(17): Show CTCATTCACTCATTCATTCACTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00621.hp1 others(71): Show HG00408.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01074.hp2 HG01106.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA18944.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp2 NA19011.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19080.hp1 NA19083.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0294 a0001c0001t0001g0298 others(70): Show a0001c0001t0001g0002 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0001g0395 a0001c0001t0001g0396 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0303 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0324 a0001c0002t0002g0331 a0001c0002t0002g0333 a0001c0002t0002g0343 a0001c0002t0002g0354 a0001c0002t0002g0387 a0001c0002t0002g0391 a0001c0002t0002g0392 a0001c0003t0002g0332 a0001c0003t0002g0355 a0001c0004t0001g0323 a0001c0004t0001g0337 a0001c0004t0001g0338 a0001c0004t0001g0357 a0001c0013t0001g0321	74	400	0.1850	24	c.-23 others(35): Show c.-2358_-2357insATGAGTGAATGAATGAGTGAATGA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		2279		chr16	TogoVar
CA5A_chr16_87883013_87941529	87939963	C C	CGATAGAT others(17): Show CGATAGATAGATAGATAGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01192.hp2 HG02451.hp1 others(10): Show HG00140.hp1 HG01192.hp2 HG02451.hp1 HG02615.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG06807.hp2 NA18969.hp1 NA18981.hp2 NA18983.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0122 others(10): Show a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0002t0002g0073 a0001c0002t0002g0076 a0001c0002t0002g0260 a0001c0002t0002g0270 a0001c0003t0002g0183 a0001c0003t0002g0257 a0001c0004t0001g0367 a0002c0005t0001g0015 a0002c0005t0001g0023	13	400	0.0325	24	c.-35 others(35): Show c.-3514_-3513insTATCTATCTATCTATCTATCTATC	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		3435		chr16	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(17): Show CACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG03540.hp2 others(4): Show HG00140.hp1 HG00323.hp1 HG03540.hp2 NA19063.hp2 NA19077.hp1 NA20805.hp1 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0001 a0002c0001t0005 a0003c0003t0001 a0002c0001t0001 a0002c0001t0005 a0003c0003t0001	a0002c0001t0001g0239 a0002c0001t0001g0260 a0002c0001t0001g0268 others(4): Show a0002c0001t0001g0239 a0002c0001t0001g0260 a0002c0001t0001g0268 a0002c0001t0001g0274 a0002c0001t0001g0372 a0002c0001t0005g0299 a0003c0003t0001g0038	7	452	0.0155	24	c.501 others(41): Show c.501+1788_501+1789insCACACACACACACATATATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02976.hp1 HG04228.hp2 others(1): Show HG01928.hp2 HG02976.hp1 HG04228.hp2 NA18947.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0003 a0005c0005 a0008c0023 a0003c0003 a0005c0005 a0008c0023	a0003c0003t0004 a0005c0005t0001 a0008c0023t0001 a0003c0003t0004 a0005c0005t0001 a0008c0023t0001	a0003c0003t0004g0060 a0005c0005t0001g0117 a0005c0005t0001g0184 others(1): Show a0003c0003t0004g0060 a0005c0005t0001g0117 a0005c0005t0001g0184 a0008c0023t0001g0313	4	452	0.0089	24	c.29 others(35): Show c.2996_*2997insAAAGAAAGAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02895.hp2 HG02897.hp1 others(2): Show HG02071.hp2 HG02895.hp2 HG02897.hp1 HG03492.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0002t0023 others(1): Show a0001c0001t0002 a0001c0002t0005 a0001c0002t0023 a0001c0002t0037	a0001c0001t0002g0241 a0001c0002t0005g0149 a0001c0002t0023g0202 others(2): Show a0001c0001t0002g0241 a0001c0002t0005g0149 a0001c0002t0023g0202 a0001c0002t0023g0205 a0001c0002t0037g0126	5	344	0.0145	24	c.36 others(39): Show c.36-973_*36-972insGTGTGTATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0284 a0001c0001t0020g0284	1	344	0.0029	24	c.36 others(39): Show c.36-973_*36-972insGTGTATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG03486.hp1 HG02647.hp2 HG02896.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0001 a0001c0003t0012g0022 a0001c0003t0012g0001 a0001c0003t0012g0022	3	344	0.0087	24	c.36 others(39): Show c.36-973_*36-972insGTATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26871914	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0018	1	372	0.0027	24	c.666 others(43): Show c.666-10799_666-10776dupATTTATTTATTTATTTATTTATTT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GAGATATA others(17): Show GAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	324	0.0031	24	c.565 others(41): Show c.565-1863_565-1862insATATATATATATATATATATATCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG02004.hp1 others(9): Show HG00544.hp1 HG00544.hp2 HG02004.hp1 HG02615.hp2 HG02735.hp1 NA18943.hp1 NA18965.hp1 NA18978.hp1 NA18979.hp2 NA19004.hp1 NA19010.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009	a0001c0002t0001g0053 a0001c0002t0001g0186 a0001c0002t0001g0202 others(9): Show a0001c0002t0001g0053 a0001c0002t0001g0186 a0001c0002t0001g0202 a0001c0002t0001g0223 a0001c0002t0002g0002 a0001c0002t0002g0078 a0001c0002t0002g0090 a0001c0002t0002g0181 a0001c0002t0003g0017 a0001c0002t0003g0031 a0001c0002t0003g0044 a0001c0002t0009g0167	12	324	0.0370	24	c.565 others(41): Show c.565-1886_565-1863dupATATATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49376891	G G	GTAGATAG others(17): Show GTAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp1 HG02630.hp2 others(4): Show HG00642.hp2 HG02451.hp1 HG02630.hp2 HG02965.hp1 HG03209.hp1 HG03688.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0050 a0001c0001t0001g0189 a0001c0001t0002g0253 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0189 a0001c0001t0002g0253 a0001c0001t0004g0268 a0001c0001t0006g0099 a0001c0001t0006g0283 a0001c0001t0011g0146	7	324	0.0216	24	c.276 others(37): Show c.276+52_276+75dupTCTATCTATCTATCTATCTATCTA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	5/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49386790	T T	TTCCCAGA others(17): Show TTCCCAGACTAAACACCTCCCCCAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19087.hp2 NA18953.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0187 a0001c0002t0001g0096 a0001c0002t0001g0187	2	324	0.0062	24	c.-31 others(41): Show c.-31-3873_-31-3850dupGTGGGGGAGGTGTTTAGTCTGGGA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGAGAGG others(17): Show GAGAGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03490.hp1 HG03492.hp1 others(11): Show HG02071.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp2 NA18948.hp2 NA18969.hp2 NA18973.hp2 NA18983.hp1 NA18995.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0004g0048 a0001c0001t0005g0003 others(10): Show a0001c0001t0001g0001 a0001c0001t0004g0048 a0001c0001t0005g0003 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0117 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0233 a0001c0001t0010g0056	14	324	0.0432	24	c.-31 others(43): Show c.-31-22779_-31-22778insTCCTTCCTTCCTTCCTTCCTCTCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	324	0.0031	24	c.-31 others(43): Show c.-31-22802_-31-22779dupTCCTTCCTTCCTTCCTTCCTTCCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0270 a0001c0001t0015g0270	1	324	0.0031	24	c.-24 others(43): Show c.-246+2764_-246+2765insTATATATATATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG02622.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0284 a0001c0002t0001g0294 a0001c0001t0001g0284 a0001c0002t0001g0294	2	324	0.0062	24	c.-24 others(43): Show c.-246+2764_-246+2765insTATATATATATATATATATATACA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CABCOCO1_chr10_61657929_61771766	61677065	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03471.hp1 NA18988.hp1 others(4): Show HG00597.hp2 HG03471.hp1 NA18988.hp1 NA19066.hp2 NA19070.hp1 NA19075.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0351 a0001c0001t0002g0303 a0001c0001t0002g0307 others(4): Show a0001c0001t0001g0351 a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0003t0002g0345	7	374	0.0187	24	c.165 others(41): Show c.165-4076_165-4075insTAATAATAATAATAATAATAATAA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61679329	C C	CTATATCT others(17): Show CTATATCTATATCTATATCTATCTA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	374	0.0027	24	c.165 others(41): Show c.165-1811_165-1810insATCTATATCTATATCTATCTATAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011076	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0268 a0001c0027t0001g0268	1	268	0.0037	24	c.-36 others(33): Show c.-366_-365insACACACACACACACACACACACAC	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		227		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011117	A A	ACACACAC others(17): Show ACACACACACACGCACACGCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	268	0.0037	24	c.-32 others(33): Show c.-325_-324insCACACACACACGCACACGCACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		186		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011131	A A	ACACGCAC others(17): Show ACACGCACACGCGCACGCGCACGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	268	0.0037	24	c.-31 others(33): Show c.-311_-310insCACGCACACGCGCACGCGCACGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		172		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTCTGTGT others(17): Show CTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0209 a0001c0004t0001g0209	1	268	0.0037	24	c.346 others(37): Show c.346-85_346-84insCTGTGTGTGTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03471.hp2 NA19012.hp2 HG02257.hp1 HG03471.hp2 NA19012.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0001 a0005c0013t0001 a0001c0001t0001 a0005c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0109 a0005c0013t0001g0123 a0001c0001t0001g0002 a0001c0001t0001g0109 a0005c0013t0001g0123	3	268	0.0112	24	c.346 others(37): Show c.346-50_346-27dupGTGTGTGTGTGTGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23188543	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA20905.hp2 HG03669.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0041 a0001c0014t0036 a0001c0001t0041 a0001c0014t0036	a0001c0001t0041g0252 a0001c0014t0036g0079 a0001c0001t0041g0252 a0001c0014t0036g0079	2	278	0.0072	24	c.846 others(39): Show c.846-272_846-271insGTGTGTGTGTGTGTGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218258	A A	ACATCCTC others(17): Show ACATCCTCACTTGCCCTGCCTCCCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19057.hp1 NA19091.hp1 HG03453.hp2 NA19057.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0049 a0002c0002t0001 a0001c0001t0049 a0002c0002t0001	a0001c0001t0049g0242 a0002c0002t0001g0154 a0002c0002t0001g0161 a0001c0001t0049g0242 a0002c0002t0001g0154 a0002c0002t0001g0161	3	278	0.0108	24	c.108 others(43): Show c.1088+4294_1088+4317dupCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218300	C C	CCTCCCGC others(17): Show CCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	278	0.0036	24	c.108 others(43): Show c.1088+4269_1088+4270insGCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218373	C C	CTCCCGCA others(17): Show CTCCCGCATCCTCACTTGCCCTGGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02165.hp2 NA18942.hp2 others(6): Show HG00609.hp1 HG02165.hp2 NA18942.hp2 NA18953.hp2 NA18954.hp2 NA18966.hp2 NA18994.hp1 NA19063.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0041 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0002g0033 a0001c0001t0012g0038 a0001c0001t0012g0039	9	278	0.0324	24	c.108 others(43): Show c.1088+4342_1088+4365dupGTTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218397	T T	TTCCCGCA others(17): Show TTCCCGCATCCTCACTTGCCCTGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01081.hp2 others(19): Show HG00408.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01516.hp1 HG01952.hp1 HG01981.hp2 HG02109.hp2 HG02273.hp2 HG03239.hp2 HG03669.hp2 HG04115.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18975.hp2 NA18990.hp1 NA18992.hp2 NA19000.hp2 NA19011.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0015 a0001c0001t0018 others(9): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0029 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0004t0016	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0021 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0015g0013 a0001c0001t0018g0011 a0001c0001t0022g0192 a0001c0001t0029g0068 a0001c0001t0033g0140 a0001c0001t0037g0217 a0001c0001t0038g0243 a0001c0001t0044g0056 a0001c0001t0045g0026 a0001c0001t0047g0023 a0001c0004t0016g0099	22	278	0.0791	24	c.108 others(43): Show c.1088+4462_1088+4485dupCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218540	G G	GCTCCCGC others(17): Show GCTCCCGCATCCTCACTTGCCCTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00621.hp1 others(23): Show HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01361.hp1 HG01515.hp2 HG02074.hp2 HG02735.hp1 HG03453.hp2 HG03942.hp1 NA18948.hp2 NA18957.hp2 NA18959.hp1 NA18971.hp1 NA18977.hp1 NA18984.hp2 NA18988.hp1 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19090.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0022 a0001c0001t0030 a0001c0001t0040 a0001c0001t0046 a0001c0001t0049 a0001c0001t0058 a0001c0003t0002 a0002c0002t0001 a0002c0002t0012 a0002c0002t0028	a0001c0001t0001g0259 a0001c0001t0002g0035 a0001c0001t0002g0037 others(23): Show a0001c0001t0001g0259 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0064 a0001c0001t0002g0075 a0001c0001t0005g0193 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0235 a0001c0001t0017g0194 a0001c0001t0022g0216 a0001c0001t0030g0028 a0001c0001t0040g0227 a0001c0001t0046g0030 a0001c0001t0049g0242 a0001c0001t0058g0201 a0001c0003t0002g0071 a0002c0002t0001g0123 a0002c0002t0001g0130 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0151 a0002c0002t0001g0172 a0002c0002t0012g0157 a0002c0002t0028g0155	26	278	0.0935	24	c.108 others(43): Show c.1088+4534_1088+4557dupCCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218564	C C	GCTCCCGC others(17): Show GCTCCCGCATCCTCACTTGCCCTGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	278	0.0036	24	c.108 others(43): Show c.1088+4486_1088+4509dupGCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9			chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218636	C C	CCTCCCGC others(17): Show CCTCCCGCATCCTCACTTGCCCTGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03130.hp1 HG01168.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0229 a0001c0001t0007g0253 a0001c0001t0004g0229 a0001c0001t0007g0253	2	278	0.0072	24	c.108 others(43): Show c.1088+4606_1088+4629dupGCTCCCGCATCCTCACTTGCCCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23218660	G G	GCTCCCGC others(17): Show GCTCCCGCATCCTCACTTGCCCTGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	278	0.0036	24	c.108 others(43): Show c.1088+4612_1088+4635dupGCATCCTCACTTGCCCTGCCTCCC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62397995	A A	ATGGTGGT others(17): Show ATGGTGGTGACGGTGGTGATGGCGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02293.hp2 HG02300.hp1 HG01975.hp2 HG02293.hp2 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0028 a0001c0002t0010g0028	3	400	0.0075	24	c.363 others(41): Show c.363-1404_363-1403insCCGCCATCACCACCGTCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar

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