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	230748831	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0134 a0001c0001t0025g0134	1	342	0.0029	21	c.-43 others(40): Show c.-43-11127_-43-11126insAAAAAAATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0280 a0001c0001t0004g0280	1	342	0.0029	21	c.-43 others(40): Show c.-43-11127_-43-11126insAAAAATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	342	0.0029	21	c.-43 others(40): Show c.-43-11127_-43-11126insATATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02055.hp2 HG02615.hp2 others(1): Show HG02027.hp2 HG02055.hp2 HG02615.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0031 a0001c0001t0064 others(1): Show a0001c0001t0006 a0001c0001t0031 a0001c0001t0064 a0001c0001t0070	a0001c0001t0006g0197 a0001c0001t0031g0198 a0001c0001t0064g0183 others(1): Show a0001c0001t0006g0197 a0001c0001t0031g0198 a0001c0001t0064g0183 a0001c0001t0070g0170	4	342	0.0117	21	c.115 others(38): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230782813	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0165 a0001c0001t0016g0165	1	342	0.0029	21	c.115 others(38): Show c.115-8040_115-8039insTTTTTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61669020	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	374	0.0027	21	c.61- others(36): Show c.61-3599_61-3598insAAAAAAAAAAAAAAAAAAAAA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61677065	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG01516.hp2 others(6): Show HG00280.hp2 HG00438.hp1 HG01516.hp2 HG01975.hp1 HG02280.hp1 NA18981.hp2 NA19060.hp1 NA19081.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0350 a0001c0001t0002g0337 a0001c0001t0002g0339 others(6): Show a0001c0001t0001g0350 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0003t0002g0338 a0001c0003t0002g0340 a0001c0003t0002g0342	9	374	0.0241	21	c.165 others(38): Show c.165-4076_165-4075insTAATAATAATAATAATAATAA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61720917	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0015 a0001c0002t0006g0015	1	374	0.0027	21	c.552 others(40): Show c.552+30301_552+30321dupTTTTTTTTTTTTTTTTTTTTT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24136524	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0221 a0001c0004t0001g0221	1	268	0.0037	21	c.474 others(40): Show c.4746+2113_4746+2133dupTTTTTTTTTTTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES2_chr20_62383634_62412285	62397941	G G	GCGGTGGT others(14): Show GCGGTGGTGGTGGTGGTGATGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00738.hp1 others(31): Show HG00323.hp1 HG00639.hp2 HG00738.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02145.hp2 HG02148.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA18906.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0003 a0001c0004t0003 a0001c0004t0008 others(2): Show a0001c0001t0003 a0001c0004t0003 a0001c0004t0008 a0001c0004t0028 a0001c0010t0008	a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0183 others(12): Show a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0183 a0001c0004t0003g0003 a0001c0004t0003g0017 a0001c0004t0003g0035 a0001c0004t0003g0064 a0001c0004t0003g0065 a0001c0004t0003g0066 a0001c0004t0003g0067 a0001c0004t0003g0068 a0001c0004t0008g0033 a0001c0004t0008g0034 a0001c0004t0028g0063 a0001c0010t0008g0016	34	400	0.0850	21	c.363 others(38): Show c.363-1350_363-1349insTCATCACCACCACCACCACCG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398094	G G	GTGGTGGT others(14): Show GTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	400	0.0025	21	c.363 others(38): Show c.363-1503_363-1502insTCACCACCACCACCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398109	G G	GTGGTGAT others(14): Show GTGGTGATGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19012.hp2 HG00280.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0001g0145 a0001c0001t0001g0164	2	400	0.0050	21	c.363 others(38): Show c.363-1518_363-1517insTCACCACCACCACCATCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398181	G G	GTGACGGT others(14): Show GTGACGGTGGTGATGATGGTGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04199.hp2 NA20905.hp2 HG03669.hp2 HG04199.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0030 a0001c0001t0011g0030	3	400	0.0075	21	c.363 others(38): Show c.363-1590_363-1589insTCACCATCATCACCACCGTCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398187	A A	ACGGTGGT others(14): Show ACGGTGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp1 HG01071.hp1 others(8): Show HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG02056.hp1 HG03017.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1	a0004 a0012 a0004 a0012	a0004c0007 a0012c0022 a0004c0007 a0012c0022	a0004c0007t0003 a0012c0022t0003 a0004c0007t0003 a0012c0022t0003	a0004c0007t0003g0024 a0004c0007t0003g0044 a0004c0007t0003g0080 others(5): Show a0004c0007t0003g0024 a0004c0007t0003g0044 a0004c0007t0003g0080 a0004c0007t0003g0171 a0004c0007t0003g0176 a0004c0007t0003g0177 a0004c0007t0003g0178 a0012c0022t0003g0233	11	400	0.0275	21	c.363 others(38): Show c.363-1596_363-1595insCCATCACCATCATCACCACCG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398187	A A	ATGGTGGT others(14): Show ATGGTGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01081.hp1 others(30): Show HG00639.hp2 HG00738.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02145.hp2 HG02148.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA18906.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0003 a0001c0004t0003 a0001c0004t0008 others(2): Show a0001c0001t0003 a0001c0004t0003 a0001c0004t0008 a0001c0004t0028 a0001c0010t0008	a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0183 others(11): Show a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0183 a0001c0004t0003g0003 a0001c0004t0003g0017 a0001c0004t0003g0035 a0001c0004t0003g0064 a0001c0004t0003g0065 a0001c0004t0003g0067 a0001c0004t0003g0068 a0001c0004t0008g0033 a0001c0004t0008g0034 a0001c0004t0028g0063 a0001c0010t0008g0016	33	400	0.0825	21	c.363 others(38): Show c.363-1596_363-1595insCCATCACCATCATCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398187	A A	ATGGTGGT others(14): Show ATGGTGGTGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0066 a0001c0004t0003g0066	1	400	0.0025	21	c.363 others(38): Show c.363-1596_363-1595insCCATCACCATCACCACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACHD1_chr1_64465129_64698053	64640741	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0088 a0003c0010t0001g0088	1	166	0.0060	21	c.100 others(40): Show c.1007-1079_1007-1078insATATATATATATATATATATA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	7/26			chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18980.hp1 HG01496.hp2 NA18980.hp1	a0002 a0007 a0002 a0007	a0002c0010 a0007c0100 a0002c0010 a0007c0100	a0002c0010t0002 a0007c0100t0017 a0002c0010t0002 a0007c0100t0017	a0002c0010t0002g0064 a0007c0100t0017g0039 a0002c0010t0002g0064 a0007c0100t0017g0039	2	218	0.0092	21	c.166 others(40): Show c.1669-1958_1669-1957insATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	218	0.0046	21	c.166 others(40): Show c.1669-1960_1669-1959insATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0020 a0020	a0020c0078 a0020c0078	a0020c0078t0019 a0020c0078t0019	a0020c0078t0019g0151 a0020c0078t0019g0151	1	218	0.0046	21	c.166 others(40): Show c.1669-1962_1669-1961insATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG01934.hp2 others(15): Show HG00423.hp2 HG00609.hp2 HG01934.hp2 HG01993.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02717.hp1 HG02970.hp2 HG03195.hp2 NA18939.hp2 NA18964.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18995.hp1 NA19084.hp1 NA20752.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0012 a0013 a0017 a0018 a0030	a0001c0001 a0001c0004 a0001c0026 others(12): Show a0001c0001 a0001c0004 a0001c0026 a0002c0003 a0002c0070 a0004c0093 a0005c0024 a0005c0033 a0006c0011 a0012c0023 a0012c0065 a0013c0089 a0017c0040 a0018c0017 a0030c0062	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0026t0001 a0002c0003t0003 a0002c0070t0007 a0004c0093t0010 a0005c0024t0006 a0005c0033t0011 a0006c0011t0002 a0012c0023t0003 a0012c0065t0017 a0013c0089t0001 a0017c0040t0001 a0018c0017t0014 a0030c0062t0002	a0001c0001t0001g0025 a0001c0001t0005g0168 a0001c0004t0001g0199 others(15): Show a0001c0001t0001g0025 a0001c0001t0005g0168 a0001c0004t0001g0199 a0001c0026t0001g0144 a0002c0003t0003g0061 a0002c0003t0003g0177 a0002c0070t0007g0102 a0004c0093t0010g0046 a0005c0024t0006g0117 a0005c0033t0011g0170 a0006c0011t0002g0133 a0012c0023t0003g0164 a0012c0023t0003g0180 a0012c0065t0017g0055 a0013c0089t0001g0143 a0017c0040t0001g0008 a0018c0017t0014g0212 a0030c0062t0002g0124	18	218	0.0826	21	c.134 others(40): Show c.1346-1570_1346-1569insAAAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336640	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19012.hp2 HG02258.hp2 NA19012.hp2	a0024 a0031 a0024 a0031	a0024c0059 a0031c0061 a0024c0059 a0031c0061	a0024c0059t0023 a0031c0061t0003 a0024c0059t0023 a0031c0061t0003	a0024c0059t0023g0001 a0031c0061t0003g0106 a0024c0059t0023g0001 a0031c0061t0003g0106	2	218	0.0092	21	c.979 others(36): Show c.979-732_979-731insCTCTCTCTCTCTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18980.hp2 NA19084.hp1 HG01123.hp1 NA18980.hp2 NA19084.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0004 a0005c0024 a0006c0011 a0001c0004 a0005c0024 a0006c0011	a0001c0004t0001 a0005c0024t0006 a0006c0011t0003 a0001c0004t0001 a0005c0024t0006 a0006c0011t0003	a0001c0004t0001g0018 a0005c0024t0006g0117 a0006c0011t0003g0070 a0001c0004t0001g0018 a0005c0024t0006g0117 a0006c0011t0003g0070	3	218	0.0138	21	c.539 others(40): Show c.539+19395_539+19415dupTTTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137935164	G G	GCATATGT others(14): Show GCATATGTATACCTGTGGCATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0189 a0002c0001t0029g0189	1	248	0.0040	21	c.967 others(40): Show c.967-17090_967-17089insACATATGTATACCTGTGGCAT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137993354	G G	GTCTAGAT others(14): Show GTCTAGATTAAATTTTTGTCTA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0025 a0008c0019t0017 a0008c0019t0025	a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	3	248	0.0121	21	c.197 others(40): Show c.1974+6507_1974+6508insTAAATTTTTGTCTATCTAGAT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	15/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0034 a0001c0015t0034	a0001c0015t0034g0075 a0001c0015t0034g0075	1	104	0.0096	21	c.478 others(40): Show c.478-68932_478-68931insAAAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0020 a0001c0004t0010g0020	1	104	0.0096	21	c.139 others(42): Show c.1391-14230_1391-14210dupAAAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2572906	T T	TCTCCTCC others(14): Show TCTCCTCCTCCTCTTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0099 a0001c0004t0036g0099	1	104	0.0096	21	c.189 others(40): Show c.1895+5119_1895+5139dupCTCCTCTTCCTCCTCCTCCTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	13/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0042 a0001c0013t0042	a0001c0013t0042g0102 a0001c0013t0042g0102	1	210	0.0048	21	c.122 others(40): Show c.1220+8560_1220+8580dupAAAAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181590416	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0032 a0001c0005t0032	a0001c0005t0032g0029 a0001c0005t0032g0029	1	206	0.0049	21	c.951 others(38): Show c.951+9640_951+9641insTATATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47			chr1	TogoVar
CACNA1S_chr1_201034512_201117426	201035818	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0030 a0030	a0030c0069 a0030c0069	a0030c0069t0001 a0030c0069t0001	a0030c0069t0001g0081 a0030c0069t0001g0081	1	314	0.0032	21	c.40 others(32): Show c.4012_*4013insAAAAAAAAAAAAAAAAAAAAA	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding		3693		chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	81985196	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG03453.hp1 HG02809.hp1 HG02818.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0002g0137 a0001c0003t0001g0025 a0001c0003t0001g0061 a0001c0003t0002g0137	3	144	0.0208	21	c.179 others(38): Show c.1797-506_1797-486dupAAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	21/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82185468	A A	AGAGGGGG others(14): Show AGAGGGGGGGGAGGGGGAGGAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	144	0.0069	21	c.295 others(40): Show c.295-14860_295-14859insCTCCTCCCCCTCCCCCCCCTC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82366903	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	144	0.0069	21	c.96- others(38): Show c.96-17275_96-17255dupAAAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	144	0.0069	21	c.95+ others(38): Show c.95+11307_95+11327dupTTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	118	0.0085	21	c.204 others(40): Show c.204+47544_204+47564dupTTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54252100	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0067 a0001c0007t0001g0067	1	118	0.0085	21	c.205 others(40): Show c.205-68328_205-68327insTTTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTTCTT others(14): Show CTTTTCTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	118	0.0085	21	c.139 others(40): Show c.1398+5920_1398+5921insTTTTCTTTCTTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNB2_chr10_18135424_18548557	18137084	C C	CTTCCTTC others(14): Show CTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0191 a0001c0001t0023g0192 a0001c0001t0023g0191 a0001c0001t0023g0192	2	200	0.0100	21	c.-36 others(32): Show c.-3653_-3652insTTCCTTCCTTCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		3339		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0148 a0001c0002t0017g0148	1	200	0.0050	21	c.121 others(33): Show c.121-23_121-3dupTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18307983	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0018 a0001c0002t0015g0018	1	200	0.0050	21	c.214 others(40): Show c.214-93934_214-93914dupTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01257.hp1 others(1): Show HG00438.hp1 HG00609.hp1 HG01257.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0047 a0001c0002t0005 a0001c0001t0001 a0001c0001t0047 a0001c0002t0005	a0001c0001t0001g0104 a0001c0001t0001g0143 a0001c0001t0047g0001 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0143 a0001c0001t0047g0001 a0001c0002t0005g0105	4	200	0.0200	21	c.334 others(40): Show c.334-33935_334-33915dupAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TTAAAAAA others(14): Show TTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	200	0.0050	21	c.334 others(40): Show c.334-33937_334-33936insTAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13			chr10	TogoVar
CACNB2_chr10_18135424_18548557	18495582	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0110 a0002c0003t0024g0110	1	200	0.0050	21	c.334 others(38): Show c.334-2763_334-2762insGTGTGTGTGTGGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18356938	A A	ATGTCTTT others(14): Show ATGTCTTTTTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	302	0.0033	21	c.51+ others(38): Show c.51+15962_51+15963insGTCTTTTTTTTTTCTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00735.hp2 others(5): Show HG00438.hp1 HG00609.hp2 HG00735.hp2 HG01257.hp1 HG01928.hp2 HG04184.hp2 NA18955.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0001c0001t0058 a0001c0001t0060 a0001c0002t0004	a0001c0001t0001g0077 a0001c0001t0001g0169 a0001c0001t0001g0291 others(5): Show a0001c0001t0001g0077 a0001c0001t0001g0169 a0001c0001t0001g0291 a0001c0001t0003g0268 a0001c0001t0033g0085 a0001c0001t0058g0032 a0001c0001t0060g0123 a0001c0002t0004g0087	8	302	0.0265	21	c.172 others(40): Show c.172-33935_172-33915dupAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TTAAAAAA others(14): Show TTAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	302	0.0033	21	c.172 others(40): Show c.172-33937_172-33936insTAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18495582	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0023 a0002c0003t0023	a0002c0003t0023g0239 a0002c0003t0023g0239	1	302	0.0033	21	c.172 others(38): Show c.172-2763_172-2762insGTGTGTGTGTGGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB4_chr2_151827771_152104044	151861842	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0150 a0001c0001t0021g0150	1	230	0.0044	21	c.759 others(38): Show c.759-1023_759-1022insTTTTTTTTTTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151861852	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG02647.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0016 a0001c0001t0015g0019 a0001c0001t0015g0016 a0001c0001t0015g0019	2	230	0.0087	21	c.759 others(38): Show c.759-1033_759-1032insGTTTTTTTTTTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	9/13			chr2	TogoVar

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