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
CA8_chr8_60180412_60286400	60219929	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01168.hp2 HG01169.hp1 others(9): Show HG00438.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG02080.hp2 HG02717.hp1 HG03834.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0002t0004 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0002t0004 a0001c0002t0025 a0001c0003t0003	a0001c0001t0003g0039 a0001c0001t0003g0053 a0001c0001t0003g0054 others(9): Show a0001c0001t0003g0039 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0002t0004g0115 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0156 a0001c0002t0004g0167 a0001c0002t0025g0012 a0001c0003t0003g0019	12	344	0.0349	12	c.738 others(29): Show c.738+2708_738+2719dupTTTTTTTTTTTT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	7/8			chr8	TogoVar
CA9_chr9_35668928_35686159	35672759	T T	TTTTTTGT others(5): Show TTTTTTGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG02257.hp2 others(10): Show HG01175.hp2 HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02809.hp1 HG02809.hp2 HG03098.hp1 HG03540.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0142 a0001c0003t0001g0148 a0001c0003t0001g0010 a0001c0003t0001g0142 a0001c0003t0001g0148	13	446	0.0292	12	c.-12 others(23): Show c.-1201_-1200insTTTTTGTTTTTG	CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding		1168		chr9	TogoVar
CAAP1_chr9_26835685_26897802	26847198	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	372	0.0027	12	c.740 others(29): Show c.740-4563_740-4552dupAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAAP1_chr9_26835685_26897802	26871914	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03041.hp2 HG03139.hp1 others(2): Show HG01496.hp2 HG03041.hp2 HG03139.hp1 NA18906.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 others(2): Show a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031	5	372	0.0134	12	c.666 others(31): Show c.666-10787_666-10776dupATTTATTTATTT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49351262	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01934.hp2 HG02071.hp2 others(3): Show HG01106.hp2 HG01934.hp2 HG02071.hp2 HG02615.hp2 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003	a0001c0001t0002g0319 a0001c0001t0004g0008 a0001c0001t0010g0056 others(3): Show a0001c0001t0002g0319 a0001c0001t0004g0008 a0001c0001t0010g0056 a0001c0002t0001g0053 a0001c0002t0001g0193 a0001c0002t0003g0034	6	324	0.0185	12	c.396 others(27): Show c.396-362_396-351dupCACACACACACA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	6/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49376891	G G	GTAGATAG others(5): Show GTAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02083.hp1 HG02135.hp2 others(24): Show HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG04228.hp1 NA18747.hp1 NA18978.hp2 NA19009.hp1 NA19066.hp1 NA19078.hp2 NA19082.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0001g0165 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0001g0165 a0001c0001t0001g0194 a0001c0001t0001g0284 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0115 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0176 a0001c0001t0002g0199 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0263 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0004g0008 a0001c0001t0004g0100 a0001c0001t0004g0298 a0001c0001t0012g0264 a0001c0001t0014g0116 a0001c0001t0015g0270	27	324	0.0833	12	c.276 others(25): Show c.276+64_276+75dupTCTATCTATCTA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	5/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49396097	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp1 others(37): Show HG00099.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG01981.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02615.hp1 HG02622.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG04204.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0049 a0001c0001t0001g0109 a0001c0001t0001g0111 others(37): Show a0001c0001t0001g0049 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0136 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0001g0316 a0001c0001t0002g0052 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0274 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0004g0271 a0001c0001t0006g0132 a0001c0001t0006g0162	40	324	0.1235	12	c.-31 others(31): Show c.-31-13157_-31-13156insTTTTTTTTTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49405719	G G	GAGGAAGG others(5): Show GAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp2 HG02922.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0298 a0001c0001t0004g0008 a0001c0001t0004g0298	2	324	0.0062	12	c.-31 others(31): Show c.-31-22790_-31-22779dupTCCTTCCTTCCT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49440715	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG02280.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0107 a0001c0001t0003g0009 a0001c0001t0002g0107 a0001c0001t0003g0009	2	324	0.0062	12	c.-24 others(31): Show c.-246+3259_-246+3270dupACACACACACAC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03195.hp2 HG03942.hp1 HG01257.hp2 HG03195.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0049 a0001c0002t0001g0259 a0001c0002t0002g0108 a0001c0001t0001g0049 a0001c0002t0001g0259 a0001c0002t0002g0108	3	324	0.0093	12	c.-24 others(31): Show c.-246+2753_-246+2764dupTATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230727363	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02809.hp2 others(3): Show HG01884.hp1 HG02486.hp2 HG02809.hp2 HG03195.hp2 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0028 others(3): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0028 a0001c0001t0042 a0001c0001t0045 a0001c0001t0054	a0001c0001t0009g0241 a0001c0001t0017g0006 a0001c0001t0028g0028 others(3): Show a0001c0001t0009g0241 a0001c0001t0017g0006 a0001c0001t0028g0028 a0001c0001t0042g0027 a0001c0001t0045g0005 a0001c0001t0054g0137	6	342	0.0175	12	c.-44 others(31): Show c.-44+14158_-44+14169dupGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230727398	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02965.hp1 HG01256.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0232 a0001c0001t0030g0233 a0001c0001t0030g0232 a0001c0001t0030g0233	2	342	0.0059	12	c.-44 others(31): Show c.-44+14169_-44+14170insGTGTGTGTGTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230728239	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0022 a0001c0001t0019g0022	1	342	0.0029	12	c.-44 others(31): Show c.-44+15025_-44+15036dupTAAATAAATAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748827	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	342	0.0029	12	c.-43 others(31): Show c.-43-11131_-43-11130insTATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748829	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18972.hp2 NA18979.hp2 others(3): Show HG00673.hp1 NA18972.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0289 a0001c0001t0002g0296 a0001c0001t0005g0143 others(3): Show a0001c0001t0001g0289 a0001c0001t0002g0296 a0001c0001t0005g0143 a0001c0001t0005g0152 a0001c0001t0007g0140 a0001c0001t0007g0144	6	342	0.0175	12	c.-43 others(31): Show c.-43-11129_-43-11128insTATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAATA others(5): Show AAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	342	0.0029	12	c.-43 others(31): Show c.-43-11127_-43-11126insAAAATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0301 a0001c0001t0001g0302	2	342	0.0059	12	c.-43 others(31): Show c.-43-11102_-43-11091dupTATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773310	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0308 a0001c0001t0041g0308	1	342	0.0029	12	c.114 others(31): Show c.114+13196_114+13197insGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773312	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18944.hp2 NA18948.hp1 others(7): Show HG00423.hp1 NA18944.hp2 NA18948.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18990.hp2 NA19002.hp1 NA19004.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014	a0001c0001t0005g0119 a0001c0001t0005g0143 a0001c0001t0005g0149 others(7): Show a0001c0001t0005g0119 a0001c0001t0005g0143 a0001c0001t0005g0149 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0144 a0001c0001t0007g0148 a0001c0001t0013g0139 a0001c0001t0014g0150 a0001c0001t0014g0151	10	342	0.0292	12	c.114 others(31): Show c.114+13198_114+13199insGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773314	A A	ATATATGT others(5): Show ATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19030.hp1 HG02976.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0067 a0001c0001t0001 a0001c0001t0067	a0001c0001t0001g0106 a0001c0001t0067g0206 a0001c0001t0001g0106 a0001c0001t0067g0206	2	342	0.0059	12	c.114 others(31): Show c.114+13200_114+13201insATATGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773314	A A	ATATGTGT others(5): Show ATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp2 HG02559.hp2 others(3): Show HG01258.hp2 HG01496.hp2 HG02559.hp2 HG03239.hp1 HG03453.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0033 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0033 a0001c0001t0034 a0002c0004t0033	a0001c0001t0001g0326 a0001c0001t0006g0192 a0001c0001t0006g0195 others(3): Show a0001c0001t0001g0326 a0001c0001t0006g0192 a0001c0001t0006g0195 a0001c0001t0033g0172 a0001c0001t0034g0190 a0002c0004t0033g0171	6	342	0.0175	12	c.114 others(31): Show c.114+13200_114+13201insATGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230773314	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG01496.hp1 others(2): Show HG01109.hp2 HG01261.hp1 HG01496.hp1 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0039 others(2): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0039 a0001c0001t0060 a0001c0001t0072	a0001c0001t0005g0132 a0001c0001t0012g0238 a0001c0001t0039g0120 others(2): Show a0001c0001t0005g0132 a0001c0001t0012g0238 a0001c0001t0039g0120 a0001c0001t0060g0024 a0001c0001t0072g0176	5	342	0.0146	12	c.114 others(31): Show c.114+13223_114+13234dupGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230782789	G G	GTTTCTTT others(5): Show GTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	342	0.0029	12	c.115 others(29): Show c.115-8067_115-8056dupCTTTCTTTCTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0193 a0001c0001t0063g0193	1	342	0.0029	12	c.115 others(29): Show c.115-8060_115-8059insTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230782980	T T	TTTTTTGT others(5): Show TTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01070.hp2 others(42): Show HG00423.hp1 HG00597.hp1 HG01070.hp2 HG01167.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG02257.hp1 HG02486.hp2 HG02523.hp2 HG02818.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18944.hp2 NA18948.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18986.hp2 NA18990.hp2 NA19002.hp1 NA19004.hp2 NA19030.hp2 NA19055.hp1 NA19058.hp2 NA19065.hp2 NA19068.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058	a0001c0001t0001g0026 a0001c0001t0005g0119 a0001c0001t0005g0123 others(42): Show a0001c0001t0001g0026 a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0138 a0001c0001t0005g0143 a0001c0001t0005g0149 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0307 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0144 a0001c0001t0007g0148 a0001c0001t0007g0316 a0001c0001t0011g0309 a0001c0001t0013g0124 a0001c0001t0013g0127 a0001c0001t0013g0130 a0001c0001t0013g0139 a0001c0001t0014g0025 a0001c0001t0014g0145 a0001c0001t0014g0150 a0001c0001t0014g0151 a0001c0001t0022g0146 a0001c0001t0022g0147 a0001c0001t0024g0125 a0001c0001t0024g0129 a0001c0001t0025g0134 a0001c0001t0025g0135 a0001c0001t0028g0028 a0001c0001t0028g0154 a0001c0001t0039g0120 a0001c0001t0041g0308 a0001c0001t0042g0027 a0001c0001t0044g0133 a0001c0001t0054g0137 a0001c0001t0055g0136 a0001c0001t0058g0015	45	342	0.1316	12	c.115 others(29): Show c.115-7874_115-7863dupGTTTTTGTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230813978	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG02145.hp1 HG00558.hp2 HG01070.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0100 a0001c0001t0002g0082 a0001c0001t0010g0049 a0001c0001t0001g0100 a0001c0001t0002g0082 a0001c0001t0010g0049	3	342	0.0088	12	c.628 others(25): Show c.628-48_628-37dupTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230825154	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01168.hp1 HG01168.hp2 others(11): Show HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03239.hp1 HG03927.hp1 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 others(6): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0018 a0001c0001t0026 a0001c0001t0030 a0001c0001t0043 a0001c0001t0061 a0001c0001t0062	a0001c0001t0005g0123 a0001c0001t0006g0192 a0001c0001t0006g0196 others(11): Show a0001c0001t0005g0123 a0001c0001t0006g0192 a0001c0001t0006g0196 a0001c0001t0006g0201 a0001c0001t0010g0092 a0001c0001t0018g0240 a0001c0001t0018g0243 a0001c0001t0026g0011 a0001c0001t0026g0012 a0001c0001t0030g0232 a0001c0001t0030g0233 a0001c0001t0043g0009 a0001c0001t0061g0231 a0001c0001t0062g0200	14	342	0.0409	12	c.64 others(23): Show c.6450_*6451insAAAAAAAAAAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4080		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61679281	T T	TTATATCT others(5): Show TTATATCTATATC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01069.hp2 others(21): Show HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG02027.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02293.hp2 HG02300.hp1 HG03017.hp2 NA18944.hp1 NA18950.hp1 NA18953.hp2 NA18999.hp2 NA19001.hp2 NA19030.hp2 NA19068.hp1 NA19089.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0138 others(21): Show a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0138 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0291 a0001c0001t0002g0162 a0001c0006t0001g0221	24	374	0.0642	12	c.165 others(29): Show c.165-1822_165-1811dupATCTATATCTAT	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(5): Show CTATATCTATCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00642.hp2 others(38): Show HG00099.hp1 HG00639.hp1 HG00642.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01975.hp2 HG02109.hp2 HG02129.hp2 HG02300.hp2 HG02451.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp1 NA18747.hp1 NA18940.hp2 NA18945.hp1 NA18949.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18979.hp2 NA18988.hp2 NA18994.hp1 NA18997.hp2 NA19003.hp1 NA19006.hp1 NA19063.hp1 NA19074.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0009	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0038 others(36): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0143 a0001c0001t0002g0141 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0009g0139	41	374	0.1096	12	c.165 others(29): Show c.165-1811_165-1810insATCTATCTATAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61757700	G G	GACACACA others(5): Show GACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 NA19030.hp2 HG01884.hp1 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106	3	374	0.0080	12	c.553 others(29): Show c.553-2345_553-2334dupCACACACACACA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011131	A A	ACACGCAC others(5): Show ACACGCACACGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02572.hp1 HG02683.hp1 others(7): Show HG02155.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp1 NA18977.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp2 NA19082.hp1 NA20300.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0002c0022 others(2): Show a0001c0001 a0002c0002 a0002c0022 a0002c0023 a0011c0021	a0001c0001t0001 a0002c0002t0001 a0002c0022t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0022t0001 a0002c0023t0001 a0011c0021t0001	a0001c0001t0001g0216 a0002c0002t0001g0166 a0002c0002t0001g0167 others(7): Show a0001c0001t0001g0216 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0170 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0022t0001g0160 a0002c0023t0001g0190 a0011c0021t0001g0174	10	268	0.0373	12	c.-31 others(21): Show c.-311_-310insCACGCACACGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		172		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011131	A A	ACACGCGC others(5): Show ACACGCGCACGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0179 a0002c0002t0006g0179	1	268	0.0037	12	c.-31 others(21): Show c.-311_-310insCACGCGCACGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		172		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTCTGTGT others(5): Show CTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18948.hp1 HG02027.hp2 NA18948.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0162 a0001c0004t0001g0205 a0001c0004t0001g0162 a0001c0004t0001g0205	2	268	0.0075	12	c.346 others(25): Show c.346-85_346-84insCTGTGTGTGTGT	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(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01175.hp2 HG01884.hp1 others(8): Show HG01069.hp2 HG01175.hp2 HG01884.hp1 HG01891.hp1 HG02015.hp1 HG02683.hp1 HG02895.hp1 HG03540.hp1 NA19066.hp2 NA19082.hp1 NA19085.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0011c0021	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0007t0002 a0002c0002t0001 a0011c0021t0001	a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0153 others(8): Show a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0243 a0001c0001t0003g0060 a0001c0003t0001g0141 a0001c0007t0002g0235 a0002c0002t0001g0017 a0002c0002t0001g0166 a0011c0021t0001g0174	11	268	0.0410	12	c.346 others(25): Show c.346-38_346-27dupGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24092687	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18973.hp2 NA19002.hp1 others(1): Show NA18939.hp1 NA18973.hp2 NA19002.hp1 NA19077.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0016 a0006c0035 a0001c0003 a0006c0016 a0006c0035	a0001c0003t0001 a0006c0016t0001 a0006c0035t0001 a0001c0003t0001 a0006c0016t0001 a0006c0035t0001	a0001c0003t0001g0133 a0006c0016t0001g0044 a0006c0016t0001g0083 others(1): Show a0001c0003t0001g0133 a0006c0016t0001g0044 a0006c0016t0001g0083 a0006c0035t0001g0015	4	268	0.0149	12	c.378 others(29): Show c.3786+871_3786+882dupGTGTGTGTGTGT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABIN1_chr22_24006304_24183628	24136524	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01358.hp1 others(17): Show HG00558.hp2 HG00597.hp1 HG01358.hp1 HG02129.hp1 HG02698.hp1 HG02895.hp1 HG03654.hp1 HG03834.hp1 NA18944.hp2 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA19005.hp1 NA19005.hp2 NA19060.hp2 NA19065.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0014 others(4): Show a0001c0001 a0001c0003 a0001c0014 a0001c0030 a0001c0036 a0002c0002 a0002c0023	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0001c0030t0001 a0001c0036t0001 a0002c0002t0001 a0002c0002t0006 a0002c0023t0001	a0001c0001t0001g0153 a0001c0003t0001g0129 a0001c0003t0001g0140 others(17): Show a0001c0001t0001g0153 a0001c0003t0001g0129 a0001c0003t0001g0140 a0001c0003t0001g0142 a0001c0003t0001g0145 a0001c0014t0001g0138 a0001c0014t0001g0143 a0001c0030t0001g0211 a0001c0036t0001g0128 a0002c0002t0001g0167 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0192 a0002c0002t0006g0179 a0002c0023t0001g0190	20	268	0.0746	12	c.474 others(31): Show c.4746+2122_4746+2133dupTTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23174821	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18906.hp2 HG03017.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0027 a0002c0002t0003 a0002c0002t0027	a0002c0002t0003g0125 a0002c0002t0027g0086 a0002c0002t0003g0125 a0002c0002t0027g0086	2	278	0.0072	12	c.846 others(31): Show c.846-13988_846-13977dupATATATATATAT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23177418	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG02965.hp1 others(6): Show HG00673.hp2 HG01243.hp1 HG02965.hp1 HG03209.hp1 HG03579.hp1 HG03579.hp2 NA18957.hp2 NA19002.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 others(4): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020 a0001c0001t0035 a0001c0001t0056 a0002c0002t0003	a0001c0001t0005g0232 a0001c0001t0010g0169 a0001c0001t0010g0171 others(6): Show a0001c0001t0005g0232 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0016g0188 a0001c0001t0016g0190 a0001c0001t0020g0139 a0001c0001t0035g0138 a0001c0001t0056g0010 a0002c0002t0003g0230	9	278	0.0324	12	c.846 others(31): Show c.846-11395_846-11384dupACACACACACAC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23184308	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02897.hp2 HG02145.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0213 a0001c0003t0002g0181 a0001c0003t0002g0237 a0001c0001t0002g0213 a0001c0003t0002g0181 a0001c0003t0002g0237	3	278	0.0108	12	c.846 others(29): Show c.846-4507_846-4496dupGTGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23185466	T T	TGACAGGG others(5): Show TGACAGGGCTCAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01515.hp1 others(27): Show HG00621.hp2 HG00735.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03579.hp2 HG03669.hp1 HG03834.hp1 NA18971.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0014 others(3): Show a0001c0001 a0001c0003 a0001c0014 a0002c0002 a0003c0006 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0041 a0001c0001t0049 a0001c0001t0052 a0001c0001t0055 a0001c0003t0002 a0001c0014t0036 a0002c0002t0003 a0002c0002t0019 a0003c0006t0048 a0003c0006t0057 a0003c0009t0043	a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 others(27): Show a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0002g0213 a0001c0001t0002g0258 a0001c0001t0004g0238 a0001c0001t0006g0273 a0001c0001t0007g0253 a0001c0001t0007g0269 a0001c0001t0008g0163 a0001c0001t0010g0167 a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0014g0275 a0001c0001t0016g0188 a0001c0001t0021g0166 a0001c0001t0041g0252 a0001c0001t0049g0242 a0001c0001t0052g0001 a0001c0001t0055g0080 a0001c0003t0002g0076 a0001c0003t0002g0181 a0001c0003t0002g0237 a0001c0014t0036g0079 a0002c0002t0003g0125 a0002c0002t0019g0119 a0003c0006t0048g0264 a0003c0006t0057g0266 a0003c0009t0043g0265	30	278	0.1079	12	c.846 others(29): Show c.846-3370_846-3359dupACAGGGCTCACG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23185466	T T	TGATAGGG others(5): Show TGATAGGGCTCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp2 others(45): Show HG00408.hp1 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG03098.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG04115.hp2 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18985.hp2 NA18994.hp1 NA19000.hp2 NA19011.hp2 NA19030.hp1 NA19063.hp1 NA19091.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0005 a0004c0008 others(1): Show a0001c0001 a0002c0005 a0004c0008 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0038 a0001c0001t0045 a0001c0001t0047 a0002c0005t0006 a0002c0005t0024 a0002c0005t0051 a0004c0008t0002 a0006c0013t0013	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(45): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0002g0033 a0001c0001t0002g0077 a0001c0001t0002g0175 a0001c0001t0002g0187 a0001c0001t0003g0073 a0001c0001t0006g0043 a0001c0001t0012g0007 a0001c0001t0012g0038 a0001c0001t0012g0039 a0001c0001t0015g0013 a0001c0001t0015g0049 a0001c0001t0018g0011 a0001c0001t0018g0051 a0001c0001t0018g0053 a0001c0001t0027g0069 a0001c0001t0029g0068 a0001c0001t0038g0243 a0001c0001t0045g0026 a0001c0001t0047g0023 a0002c0005t0006g0118 a0002c0005t0024g0121 a0002c0005t0051g0120 a0004c0008t0002g0185 a0004c0008t0002g0186 a0006c0013t0013g0148	48	278	0.1727	12	c.846 others(29): Show c.846-3370_846-3369insTAGGGCTCACGA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23202043	G G	GAGGAAGG others(5): Show GAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0080 a0001c0001t0055g0080	1	278	0.0036	12	c.101 others(31): Show c.1010+7515_1010+7526dupAAGGAAGGAAGG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23248512	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02976.hp1 HG03195.hp1 others(2): Show HG01070.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0274 a0002c0002t0001g0083 a0002c0002t0002g0087 others(2): Show a0001c0001t0001g0274 a0002c0002t0001g0083 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0091	5	278	0.0180	12	c.144 others(31): Show c.1447-4433_1447-4422dupTTTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23248538	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0240 a0001c0001t0005g0240	1	278	0.0036	12	c.144 others(31): Show c.1447-4422_1447-4421insTTTTTTTTTTTA	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	7/9			chr18	TogoVar
CABLES2_chr20_62383634_62412285	62397927	T T	TGGTGGTG others(5): Show TGGTGGTGATGGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	400	0.0025	12	c.363 others(29): Show c.363-1336_363-1335insGCCATCACCACC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62397995	A A	ATGGCGGT others(5): Show ATGGCGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	400	0.0025	12	c.363 others(29): Show c.363-1404_363-1403insCCACCACCGCCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398009	T T	TATGACGG others(5): Show TATGACGGTGGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0210 a0001c0008t0005g0210	1	400	0.0025	12	c.363 others(29): Show c.363-1418_363-1417insCACCACCGTCAT	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398012	G G	GGTGGTGA others(5): Show GGTGGTGACGGTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	400	0.0025	12	c.363 others(29): Show c.363-1421_363-1420insTACCGTCACCAC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398059	T T	TGGTGGTG others(5): Show TGGTGGTGGTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00733.hp1 others(55): Show HG00099.hp2 HG00597.hp1 HG00733.hp1 HG01070.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02129.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02630.hp2 HG02683.hp2 HG02738.hp2 HG02886.hp1 HG03098.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 NA18951.hp2 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18980.hp2 NA18987.hp1 NA18990.hp1 NA19007.hp2 NA19043.hp1 NA19056.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0007 a0009 a0011	a0001c0002 a0003c0006 a0003c0021 others(4): Show a0001c0002 a0003c0006 a0003c0021 a0005c0012 a0007c0015 a0009c0019 a0011c0018	a0001c0002t0002 a0001c0002t0010 a0001c0002t0012 others(8): Show a0001c0002t0002 a0001c0002t0010 a0001c0002t0012 a0001c0002t0030 a0003c0006t0002 a0003c0006t0022 a0003c0021t0002 a0005c0012t0002 a0007c0015t0002 a0009c0019t0002 a0011c0018t0002	a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0014 others(26): Show a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0050 a0001c0002t0002g0137 a0001c0002t0002g0191 a0001c0002t0002g0195 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0010g0028 a0001c0002t0010g0193 a0001c0002t0010g0198 a0001c0002t0012g0048 a0001c0002t0012g0192 a0001c0002t0030g0194 a0003c0006t0002g0005 a0003c0006t0002g0032 a0003c0006t0002g0054 a0003c0006t0002g0225 a0003c0006t0022g0226 a0003c0021t0002g0232 a0005c0012t0002g0061 a0007c0015t0002g0069 a0009c0019t0002g0227 a0011c0018t0002g0223	58	400	0.1450	12	c.363 others(29): Show c.363-1479_363-1468dupGTCACCACCACC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398071	C C	CAGTGATG others(5): Show CAGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	400	0.0025	12	c.363 others(29): Show c.363-1480_363-1479insATCACCATCACT	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar

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