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
CAB39_chr2_230707842_230826075	230773314	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02145.hp1 others(9): Show HG01168.hp2 HG01169.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02572.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0069 a0001c0001t0071	a0001c0001t0004g0321 a0001c0001t0006g0196 a0001c0001t0006g0201 others(9): Show a0001c0001t0004g0321 a0001c0001t0006g0196 a0001c0001t0006g0201 a0001c0001t0010g0049 a0001c0001t0011g0047 a0001c0001t0012g0173 a0001c0001t0012g0174 a0001c0001t0021g0166 a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0001t0069g0167 a0001c0001t0071g0177	12	342	0.0351	10	c.114 others(29): Show c.114+13225_114+13234dupGTGTGTGTGT	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(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02922.hp2 others(2): Show HG01256.hp2 HG01258.hp2 HG02922.hp2 HG03239.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0062 a0001c0001t0006 a0001c0001t0012 a0001c0001t0062	a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0195 others(2): Show a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0012g0174 a0001c0001t0062g0200	5	342	0.0146	10	c.115 others(27): Show c.115-8060_115-8059insTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230783442	A A	AGTTTTGT others(3): Show AGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(62): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02148.hp2 HG02258.hp2 HG02451.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18985.hp1 NA18986.hp2 NA18995.hp2 NA19004.hp2 NA19055.hp1 NA19068.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0047 a0001c0001t0057	a0001c0001t0001g0016 a0001c0001t0001g0051 a0001c0001t0001g0058 others(62): Show a0001c0001t0001g0016 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0002g0279 a0001c0001t0002g0306 a0001c0001t0002g0338 a0001c0001t0004g0159 a0001c0001t0004g0162 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0138 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0307 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0140 a0001c0001t0007g0142 a0001c0001t0007g0144 a0001c0001t0007g0316 a0001c0001t0010g0013 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0011g0161 a0001c0001t0013g0124 a0001c0001t0013g0127 a0001c0001t0013g0130 a0001c0001t0013g0139 a0001c0001t0014g0025 a0001c0001t0014g0145 a0001c0001t0017g0006 a0001c0001t0017g0007 a0001c0001t0017g0010 a0001c0001t0024g0125 a0001c0001t0024g0129 a0001c0001t0026g0011 a0001c0001t0026g0012 a0001c0001t0028g0154 a0001c0001t0029g0002 a0001c0001t0036g0333 a0001c0001t0039g0120 a0001c0001t0040g0014 a0001c0001t0045g0005 a0001c0001t0047g0057 a0001c0001t0057g0116	65	342	0.1901	10	c.115 others(27): Show c.115-7400_115-7391dupTGTTTTGTTT	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(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02486.hp2 others(5): Show HG02055.hp1 HG02451.hp1 HG02486.hp2 HG02818.hp1 HG03130.hp1 HG03688.hp1 NA19030.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0054 a0001c0001t0001 a0001c0001t0011 a0001c0001t0054	a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0095 others(5): Show a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0011g0050 a0001c0001t0011g0161 a0001c0001t0054g0137	8	342	0.0234	10	c.628 others(23): Show c.628-46_628-37dupTTTTTTTTTT	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(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02922.hp1 others(2): Show HG02145.hp1 HG02486.hp1 HG02922.hp1 NA18986.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0048	a0001c0001t0001g0044 a0001c0001t0004g0046 a0001c0001t0010g0049 others(2): Show a0001c0001t0001g0044 a0001c0001t0004g0046 a0001c0001t0010g0049 a0001c0001t0011g0047 a0001c0001t0048g0037	5	342	0.0146	10	c.64 others(21): Show c.6450_*6451insAAAAAAAAAA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4080		chr2	TogoVar
CAB39_chr2_230707842_230826075	230825165	A A	AAAAAAAA others(3): Show AAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03130.hp1 HG02451.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0050 a0001c0001t0011g0161 a0001c0001t0011g0050 a0001c0001t0011g0161	2	342	0.0059	10	c.64 others(21): Show c.6461_*6462insAAAAAAAAAG	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4091		chr2	TogoVar
CAB39_chr2_230707842_230826075	230825718	T T	TTTTTTTT others(3): Show TTTTTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG03486.hp2 HG06807.hp1 others(1): Show HG02818.hp2 HG03486.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0028 a0001c0001t0029 a0001c0001t0042	a0001c0001t0001g0026 a0001c0001t0028g0028 a0001c0001t0029g0002 others(1): Show a0001c0001t0001g0026 a0001c0001t0028g0028 a0001c0001t0029g0002 a0001c0001t0042g0027	4	342	0.0117	10	c.70 others(21): Show c.7014_*7015insTTTTTTTTTC	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding		4644		chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61682889	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02135.hp2 HG02738.hp1 others(1): Show HG01981.hp1 HG02135.hp2 HG02738.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0003t0002g0329	4	374	0.0107	10	c.334 others(27): Show c.334+1583_334+1592dupTTTTTTTTTT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61757700	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG03225.hp2 others(2): Show HG02451.hp2 HG02896.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0281 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0281 a0001c0002t0002g0020 a0001c0002t0002g0021	5	374	0.0134	10	c.553 others(27): Show c.553-2343_553-2334dupCACACACACA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24011076	A A	AACACACA others(3): Show AACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0266 a0008c0015t0001g0266	1	268	0.0037	10	c.-36 others(19): Show c.-366_-365insACACACACAC	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		227		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011111	A A	ACACGCAC others(3): Show ACACGCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02129.hp2 HG04199.hp1 others(1): Show HG01069.hp2 HG02129.hp2 HG04199.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0165 a0002c0002t0001g0180 others(1): Show a0002c0002t0001g0017 a0002c0002t0001g0165 a0002c0002t0001g0180 a0002c0002t0001g0181	4	268	0.0149	10	c.-33 others(19): Show c.-331_-330insCACGCACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		192		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011117	A A	ACACACAC others(3): Show ACACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	268	0.0037	10	c.-32 others(19): Show c.-325_-324insCACACACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		186		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011117	A A	ACACGCAC others(3): Show ACACGCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG01891.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0215 a0001c0001t0001g0163 a0001c0001t0001g0215	2	268	0.0075	10	c.-32 others(19): Show c.-325_-324insCACGCACACG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		186		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24011131	A A	ACGCGCAC others(3): Show ACGCGCACGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	268	0.0037	10	c.-31 others(19): Show c.-311_-310insCGCGCACGCG	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding		172		chr22	TogoVar
CABIN1_chr22_24006304_24183628	24042818	C C	CTCTGTGT others(3): Show CTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18959.hp2 NA19089.hp1 HG02965.hp1 NA18959.hp2 NA19089.hp1	a0001 a0010 a0001 a0010	a0001c0009 a0001c0032 a0010c0033 a0001c0009 a0001c0032 a0010c0033	a0001c0009t0001 a0001c0032t0001 a0010c0033t0005 a0001c0009t0001 a0001c0032t0001 a0010c0033t0005	a0001c0009t0001g0196 a0001c0032t0001g0016 a0010c0033t0005g0197 a0001c0009t0001g0196 a0001c0032t0001g0016 a0010c0033t0005g0197	3	268	0.0112	10	c.346 others(23): Show c.346-85_346-84insCTGTGTGTGT	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(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02109.hp1 HG02129.hp2 others(15): Show HG01069.hp1 HG02109.hp1 HG02129.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp2 HG06807.hp2 NA18944.hp1 NA18969.hp1 NA18982.hp2 NA18990.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19077.hp2 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0037 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0003t0001 a0001c0007t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0002 a0001c0037t0001 a0002c0002t0001 a0004c0006t0001	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0047 others(15): Show a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0111 a0001c0001t0001g0149 a0001c0003t0001g0125 a0001c0003t0001g0133 a0001c0003t0001g0135 a0001c0007t0002g0236 a0001c0037t0001g0151 a0002c0002t0001g0165 a0002c0002t0001g0175 a0002c0002t0001g0191 a0004c0006t0001g0101	18	268	0.0672	10	c.346 others(23): Show c.346-36_346-27dupGTGTGTGTGT	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(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03688.hp2 others(3): Show HG02965.hp2 HG02976.hp2 HG03688.hp2 NA18939.hp2 NA18982.hp1 NA18997.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0014c0026	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0014c0026t0004	a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0003t0001g0140 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0003t0001g0140 a0001c0003t0001g0144 a0001c0004t0001g0221 a0014c0026t0004g0130	6	268	0.0224	10	c.378 others(27): Show c.3786+873_3786+882dupGTGTGTGTGT	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(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG02004.hp2 others(8): Show HG01175.hp2 HG01496.hp1 HG02004.hp2 HG06807.hp2 NA18747.hp1 NA18947.hp2 NA18960.hp2 NA18961.hp2 NA18977.hp2 NA19007.hp2 NA19077.hp2	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0001 a0001c0037t0001 a0001c0003t0001 a0001c0037t0001	a0001c0003t0001g0020 a0001c0003t0001g0132 a0001c0003t0001g0135 others(8): Show a0001c0003t0001g0020 a0001c0003t0001g0132 a0001c0003t0001g0135 a0001c0003t0001g0139 a0001c0003t0001g0141 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0260 a0001c0037t0001g0151	11	268	0.0410	10	c.474 others(29): Show c.4746+2124_4746+2133dupTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG03209.hp1 others(1): Show HG01884.hp2 HG02922.hp2 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0032 a0001c0001t0010 a0001c0001t0032	a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0171 others(1): Show a0001c0001t0010g0168 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0032g0170	4	278	0.0144	10	c.845 others(29): Show c.845+13610_845+13619dupTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23156355	T T	TCTGTTCT others(3): Show TCTGTTCTCTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0242 a0001c0001t0049g0242	1	278	0.0036	10	c.845 others(29): Show c.845+19748_845+19749insCTGTTCTCTG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9			chr18	TogoVar
CABLES1_chr18_23130485_23265470	23174821	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG04115.hp1 HG01516.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0037 a0002c0002t0001 a0001c0001t0037 a0002c0002t0001	a0001c0001t0037g0217 a0002c0002t0001g0113 a0001c0001t0037g0217 a0002c0002t0001g0113	2	278	0.0072	10	c.846 others(29): Show c.846-13986_846-13977dupATATATATAT	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(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01167.hp2 HG01169.hp1 others(13): Show HG00597.hp2 HG01167.hp2 HG01169.hp1 HG01884.hp2 HG01891.hp1 HG02074.hp2 HG03516.hp1 HG04184.hp2 NA18945.hp1 NA18948.hp2 NA18959.hp1 NA18964.hp1 NA18977.hp1 NA19005.hp2 NA19010.hp1 NA19066.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0008 a0001c0001 a0002c0002 a0004c0008	a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 others(5): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0012 a0004c0008t0002	a0001c0001t0005g0193 a0001c0001t0010g0167 a0001c0001t0010g0168 others(13): Show a0001c0001t0005g0193 a0001c0001t0010g0167 a0001c0001t0010g0168 a0001c0001t0016g0270 a0002c0002t0001g0123 a0002c0002t0001g0130 a0002c0002t0001g0142 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0172 a0002c0002t0003g0124 a0002c0002t0003g0153 a0002c0002t0006g0156 a0002c0002t0012g0157 a0004c0008t0002g0185 a0004c0008t0002g0186	16	278	0.0576	10	c.846 others(29): Show c.846-11393_846-11384dupACACACACAC	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(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp2 HG02630.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0271 a0001c0001t0002g0258 a0001c0001t0001g0271 a0001c0001t0002g0258	2	278	0.0072	10	c.846 others(27): Show c.846-4505_846-4496dupGTGTGTGTGT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23220447	A A	AGTAGGTG others(3): Show AGTAGGTGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0133 a0001c0001t0026g0133	1	278	0.0036	10	c.108 others(29): Show c.1088+6405_1088+6414dupTAGGTGGGGG	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62399240	A A	ATATTTTA others(3): Show ATATTTTATTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02559.hp2 others(7): Show HG01109.hp2 HG01891.hp1 HG02559.hp2 HG02723.hp1 HG02723.hp2 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0016 a0001c0008t0005 a0001c0001t0016 a0001c0008t0005	a0001c0001t0016g0166 a0001c0008t0005g0031 a0001c0008t0005g0053 others(4): Show a0001c0001t0016g0166 a0001c0008t0005g0031 a0001c0008t0005g0053 a0001c0008t0005g0075 a0001c0008t0005g0210 a0001c0008t0005g0211 a0001c0008t0005g0216	10	400	0.0250	10	c.363 others(27): Show c.363-2658_363-2649dupAAATAAAATA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP1_chr12_120635626_120672324	120636805	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02129.hp1 HG02129.hp2 others(8): Show HG00423.hp1 HG02129.hp1 HG02129.hp2 HG02897.hp2 HG03453.hp1 NA18747.hp1 NA18945.hp2 NA18977.hp2 NA18994.hp1 NA19004.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0256 a0001c0001t0001g0281	11	418	0.0263	10	c.-38 others(21): Show c.-3881_-3880insTTTTTTTTTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		3820		chr12	TogoVar
CABP1_chr12_120635626_120672324	120642995	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01243.hp1 HG01257.hp1 others(7): Show HG01168.hp1 HG01243.hp1 HG01257.hp1 HG01515.hp2 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0286 a0002c0002t0001g0291	10	418	0.0239	10	c.654 others(27): Show c.654+1664_654+1673dupAAAAAAAAAA	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP1_chr12_120635626_120672324	120642995	G G	GGAAAAAA others(3): Show GGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA19072.hp2 HG01168.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0258 a0001c0001t0001g0259	2	418	0.0048	10	c.654 others(27): Show c.654+1656_654+1657insGAAAAAAAAA	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5			chr12	TogoVar
CABP4_chr11_67450354_67466752	67460516	T T	TACACACA others(3): Show TACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0009 a0001c0001t0046g0009	1	368	0.0027	10	c.18 others(21): Show c.1875_*1884dupCACACACACA	CABP4	ENSG00000175544.14	transcript	ENST00000325656.7	protein_coding	6/6	1885	INFO_REALIGN_3_PRIME	chr11	TogoVar
CABP5_chr19_48024383_48049079	48028493	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0065 a0003c0004t0065	a0003c0004t0065g0205 a0003c0004t0065g0205	1	376	0.0027	10	c.20 others(21): Show c.2063_*2064insAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		889		chr19	TogoVar
CABP5_chr19_48024383_48049079	48028888	T T	TCACACCA others(3): Show TCACACCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01433.hp1 HG02818.hp1 others(6): Show HG00733.hp2 HG01433.hp1 HG02818.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03579.hp1 NA18522.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0005 a0009c0014 a0001c0001 a0001c0005 a0009c0014	a0001c0001t0031 a0001c0005t0029 a0001c0005t0030 others(4): Show a0001c0001t0031 a0001c0005t0029 a0001c0005t0030 a0001c0005t0059 a0001c0005t0060 a0001c0005t0061 a0009c0014t0066	a0001c0001t0031g0251 a0001c0005t0029g0182 a0001c0005t0029g0186 others(6): Show a0001c0001t0031g0251 a0001c0005t0029g0182 a0001c0005t0029g0186 a0001c0005t0030g0184 a0001c0005t0030g0187 a0001c0005t0059g0185 a0001c0005t0060g0183 a0001c0005t0061g0180 a0009c0014t0066g0264	9	376	0.0239	10	c.16 others(21): Show c.1668_*1669insCAGTGGTGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		494		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029280	A A	AAAAATAA others(3): Show AAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0251 a0001c0001t0031g0251	1	376	0.0027	10	c.12 others(21): Show c.1276_*1277insATTTTATTTT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		102		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029794	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG03540.hp1 HG02630.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0016 a0001c0002t0021g0016	2	376	0.0053	10	c.76 others(19): Show c.762_*763insCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	762		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029798	C C	CAGAGAGA others(3): Show CAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG02145.hp2 others(7): Show HG00558.hp2 HG02027.hp2 HG02145.hp2 HG02970.hp1 HG03516.hp1 NA18946.hp1 NA18955.hp1 NA18964.hp1 NA19054.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0072 a0002c0003t0008 a0001c0001t0072 a0002c0003t0008	a0001c0001t0072g0135 a0002c0003t0008g0019 a0002c0003t0008g0047 others(6): Show a0001c0001t0072g0135 a0002c0003t0008g0019 a0002c0003t0008g0047 a0002c0003t0008g0051 a0002c0003t0008g0057 a0002c0003t0008g0058 a0002c0003t0008g0059 a0002c0003t0008g0074 a0002c0003t0008g0079	10	376	0.0266	10	c.74 others(19): Show c.749_*758dupCTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	758		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029818	G G	GAGAGAGA others(3): Show GAGAGAGAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0066 a0009c0014t0066	a0009c0014t0066g0264 a0009c0014t0066g0264	1	376	0.0027	10	c.73 others(19): Show c.738_*739insGTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	738		chr19	TogoVar
CABP5_chr19_48024383_48049079	48029828	G G	GAGAGAGA others(3): Show GAGAGAGAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0076 a0004c0007t0076	a0004c0007t0076g0225 a0004c0007t0076g0225	1	376	0.0027	10	c.72 others(19): Show c.728_*729insGTCTCTCTCT	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	728		chr19	TogoVar
CABP5_chr19_48024383_48049079	48037259	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(50): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG01943.hp2 HG02015.hp1 HG02083.hp1 HG02083.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp2 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA19030.hp1 NA19057.hp1 NA19060.hp1 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19085.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0008 a0008c0012 a0001c0001 a0005c0008 a0008c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0049 a0001c0001t0063 a0001c0001t0072 a0005c0008t0064 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0028 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0003g0025 a0001c0001t0003g0109 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0003g0157 a0001c0001t0003g0199 a0001c0001t0005g0093 a0001c0001t0005g0110 a0001c0001t0005g0129 a0001c0001t0005g0131 a0001c0001t0005g0134 a0001c0001t0007g0133 a0001c0001t0007g0136 a0001c0001t0007g0169 a0001c0001t0007g0230 a0001c0001t0011g0168 a0001c0001t0020g0156 a0001c0001t0049g0132 a0001c0001t0063g0253 a0001c0001t0072g0135 a0005c0008t0064g0078 a0008c0012t0001g0041	53	376	0.1410	10	c.348 others(27): Show c.348+1939_348+1948dupAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	4/5			chr19	TogoVar
CACFD1_chr9_133454978_133475848	133458555	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02622.hp1 HG03486.hp1 others(3): Show HG02135.hp1 HG02622.hp1 HG03486.hp1 HG03516.hp2 NA18979.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0067	a0001c0001t0002g0043 a0001c0001t0003g0001 a0001c0001t0008g0003 others(3): Show a0001c0001t0002g0043 a0001c0001t0003g0001 a0001c0001t0008g0003 a0001c0001t0010g0029 a0001c0001t0021g0003 a0001c0001t0067g0098	6	420	0.0143	10	c.-15 others(21): Show c.-1512_-1511insAAAAAAAAAA	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding		1422		chr9	TogoVar
CACHD1_chr1_64465129_64698053	64466140	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01099.hp1 others(22): Show HG00099.hp1 HG00735.hp1 HG01099.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02135.hp1 HG02258.hp2 HG02523.hp2 HG02630.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03486.hp2 HG03540.hp1 HG04199.hp1 NA19070.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0002c0011t0002	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 others(22): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0151 a0001c0001t0002g0015 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0005g0008 a0001c0001t0007g0131 a0001c0001t0008g0010 a0001c0001t0010g0037 a0001c0001t0011g0029 a0001c0001t0016g0014 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0002g0038 a0001c0003t0001g0034 a0001c0003t0002g0139 a0001c0003t0003g0035 a0001c0003t0004g0147 a0002c0011t0002g0036	25	166	0.1506	10	c.-46 others(21): Show c.-4605_-4604insTGTGTGTGTG	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding		3988		chr1	TogoVar
CACHD1_chr1_64465129_64698053	64505847	T T	TCGCCCCG others(3): Show TCGCCCCGCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0166 a0001c0002t0004g0166	1	166	0.0060	10	c.198 others(29): Show c.198+34925_198+34934dupCCGCCCCGCC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64512393	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0039 a0001c0001t0001g0040	2	166	0.0121	10	c.199 others(29): Show c.199-38184_199-38175dupAAAAAAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64531495	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	166	0.0060	10	c.199 others(29): Show c.199-19073_199-19064dupGTGTGTGTGT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64543402	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02615.hp1 HG02976.hp1 others(7): Show HG01192.hp2 HG02615.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0002t0005	a0001c0001t0001g0050 a0001c0001t0001g0116 a0001c0001t0002g0132 others(7): Show a0001c0001t0001g0050 a0001c0001t0001g0116 a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0017g0044 a0001c0002t0005g0016	10	166	0.0602	10	c.199 others(27): Show c.199-7177_199-7168dupATATATATAT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64590659	G G	GGTTTTGT others(3): Show GGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02976.hp1 HG03516.hp1 others(2): Show HG02896.hp2 HG02976.hp1 HG03516.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013	a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0001t0005g0002 others(2): Show a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0013g0046	5	166	0.0301	10	c.410 others(27): Show c.410+8376_410+8385dupGTTTTGTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64606106	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp2 HG02559.hp2 others(15): Show HG01192.hp2 HG02109.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp2 HG03225.hp2 HG03486.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0080 others(15): Show a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0002g0015 a0001c0001t0002g0129 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0003g0155 a0001c0001t0005g0008 a0001c0001t0007g0130 a0001c0001t0017g0044 a0001c0002t0001g0112	18	166	0.1084	10	c.517 others(27): Show c.517+3209_517+3218dupACACACACAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681541	G G	GGTTTTTT others(3): Show GGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02056.hp2 HG02109.hp2 others(8): Show HG01123.hp1 HG02056.hp2 HG02109.hp2 HG02280.hp2 HG02523.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG06807.hp2 NA18955.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0004t0012	a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0002g0134 others(8): Show a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0002g0134 a0001c0001t0003g0155 a0001c0001t0008g0010 a0001c0002t0001g0042 a0001c0002t0001g0158 a0001c0002t0004g0166 a0001c0003t0001g0106 a0001c0004t0012g0115 a0001c0004t0012g0121	11	166	0.0663	10	c.348 others(27): Show c.3484+206_3484+207insGTTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26			chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681541	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	166	0.0060	10	c.348 others(27): Show c.3484+220_3484+229dupTTTTTTTTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64681552	T T	TTTTGTTG others(3): Show TTTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp2 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0099 a0001c0001t0004g0108 a0001c0001t0003g0099 a0001c0001t0004g0108	2	166	0.0121	10	c.348 others(27): Show c.3484+220_3484+221insGTTGTTGTTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	218	0.0046	10	c.166 others(29): Show c.1669-1960_1669-1959insATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0027 a0003c0013t0027	a0003c0013t0027g0149 a0003c0013t0027g0149	1	218	0.0046	10	c.134 others(29): Show c.1346-1579_1346-1570dupAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar

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