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
CACNA2D3_chr3_54117552_55079557	54646148	T T	TTCCCTCC others(5): Show TTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 HG03098.hp2 others(1): Show HG02630.hp2 HG02976.hp1 HG03098.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0037 others(1): Show a0001c0001 a0001c0010 a0001c0037 a0001c0038	a0001c0001t0012 a0001c0010t0003 a0001c0037t0004 others(1): Show a0001c0001t0012 a0001c0010t0003 a0001c0037t0004 a0001c0038t0010	a0001c0001t0012g0063 a0001c0010t0003g0057 a0001c0037t0004g0019 others(1): Show a0001c0001t0012g0063 a0001c0010t0003g0057 a0001c0037t0004g0019 a0001c0038t0010g0059	4	118	0.0339	12	c.116 others(31): Show c.1167+3935_1167+3946dupCTCCCTCCCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54646194	G G	GCTTCCTT others(5): Show GCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	118	0.0085	12	c.116 others(31): Show c.1167+3996_1167+4007dupTCCTTCCTTCCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54650201	T T	TTTTGTTT others(5): Show TTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(70): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18951.hp2 NA18979.hp1 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(27): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0023 a0001c0025 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0033 a0001c0034 a0001c0035 a0001c0040 a0001c0042 a0002c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0006t0007 a0001c0008t0001 a0001c0009t0008 a0001c0010t0006 a0001c0011t0001 a0001c0012t0005 a0001c0012t0011 a0001c0014t0001 a0001c0015t0001 a0001c0016t0005 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0021t0002 a0001c0023t0001 a0001c0025t0004 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0001c0030t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0040t0001 a0001c0042t0001 a0002c0020t0001	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0033 others(70): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0002g0003 a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0040 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0002g0066 a0001c0002t0004g0001 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0038 a0001c0003t0001g0042 a0001c0003t0001g0054 a0001c0003t0001g0094 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0003t0006g0064 a0001c0004t0001g0007 a0001c0004t0001g0022 a0001c0004t0001g0031 a0001c0004t0001g0095 a0001c0004t0002g0008 a0001c0005t0001g0052 a0001c0005t0001g0111 a0001c0005t0003g0055 a0001c0006t0001g0009 a0001c0006t0001g0017 a0001c0006t0007g0098 a0001c0008t0001g0074 a0001c0008t0001g0092 a0001c0009t0008g0077 a0001c0010t0006g0062 a0001c0011t0001g0099 a0001c0012t0005g0027 a0001c0012t0011g0036 a0001c0014t0001g0102 a0001c0015t0001g0072 a0001c0015t0001g0108 a0001c0016t0005g0116 a0001c0017t0001g0025 a0001c0018t0001g0076 a0001c0019t0001g0075 a0001c0021t0002g0023 a0001c0023t0001g0018 a0001c0025t0004g0106 a0001c0027t0001g0014 a0001c0028t0001g0090 a0001c0029t0001g0096 a0001c0030t0001g0028 a0001c0033t0001g0114 a0001c0034t0001g0086 a0001c0035t0001g0049 a0001c0040t0001g0117 a0001c0042t0001g0078 a0002c0020t0001g0021	73	118	0.6186	12	c.116 others(31): Show c.1167+7965_1167+7976dupTTTGTTTGTTTG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54678720	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG04115.hp1 HG01123.hp2 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0011 a0001c0003t0006g0064 a0001c0003t0001g0011 a0001c0003t0006g0064	2	118	0.0170	12	c.116 others(33): Show c.1167+36497_1167+36508dupAAAAAAAAAAAA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54687103	A A	ATTTTTCT others(5): Show ATTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0088 a0001c0005t0001g0088	1	118	0.0085	12	c.116 others(33): Show c.1167+44874_1167+44885dupCTTTTTCTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54736103	A A	ACATATAT others(5): Show ACATATATGTATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0064 a0001c0003t0006g0064	1	118	0.0085	12	c.116 others(33): Show c.1168-16496_1168-16495insCATATATGTATG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763780	C C	CGTATATA others(5): Show CGTATATATACGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	118	0.0085	12	c.124 others(29): Show c.1247-438_1247-437insGTATATATACGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763788	T T	TACGTATA others(5): Show TACGTATATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01258.hp1 HG01192.hp2 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0007 a0001c0016t0005 a0001c0006t0007 a0001c0016t0005	a0001c0006t0007g0098 a0001c0016t0005g0116 a0001c0006t0007g0098 a0001c0016t0005g0116	2	118	0.0170	12	c.124 others(29): Show c.1247-430_1247-429insACGTATATATAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54821641	G G	GTTCTTTC others(5): Show GTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	118	0.0085	12	c.139 others(31): Show c.1398+4819_1398+4830dupTTTCTTTCTTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54821697	T T	TTTCTTTC others(5): Show TTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG01255.hp2 others(4): Show HG00280.hp2 HG00673.hp1 HG01255.hp2 HG02970.hp1 NA18951.hp2 NA19068.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0001c0015 a0001c0019 a0001c0041	a0001c0001t0001 a0001c0002t0004 a0001c0009t0001 others(4): Show a0001c0001t0001 a0001c0002t0004 a0001c0009t0001 a0001c0014t0001 a0001c0015t0001 a0001c0019t0001 a0001c0041t0001	a0001c0001t0001g0107 a0001c0002t0004g0001 a0001c0009t0001g0013 others(4): Show a0001c0001t0001g0107 a0001c0002t0004g0001 a0001c0009t0001g0013 a0001c0014t0001g0102 a0001c0015t0001g0108 a0001c0019t0001g0075 a0001c0041t0001g0085	7	118	0.0593	12	c.139 others(31): Show c.1398+4830_1398+4831insTTTCCTTCCTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54821697	T T	TTTCTTTC others(5): Show TTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0082 a0001c0002t0001g0082	1	118	0.0085	12	c.139 others(31): Show c.1398+4830_1398+4831insTTTCTTTCCTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822730	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	118	0.0085	12	c.139 others(31): Show c.1398+5909_1398+5920dupTTTCTTTCTTTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CCTTTCTT others(5): Show CCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG02622.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0060 a0001c0004t0001g0022 a0001c0002t0001g0060 a0001c0004t0001g0022	2	118	0.0170	12	c.139 others(31): Show c.1398+5953_1398+5964dupCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(5): Show CTTTCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19240.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0001 a0001c0024t0001 a0001c0002t0001 a0001c0024t0001	a0001c0002t0001g0040 a0001c0024t0001g0069 a0001c0002t0001g0040 a0001c0024t0001g0069	2	118	0.0170	12	c.139 others(31): Show c.1398+5920_1398+5921insTTTCTTTCCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTCTTT others(5): Show CTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	118	0.0085	12	c.139 others(31): Show c.1398+5920_1398+5921insTTTCTTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822832	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	118	0.0085	12	c.139 others(31): Show c.1398+5982_1398+5993dupCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54832011	T T	TCATACAC others(5): Show TCATACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG04115.hp1 NA18522.hp2 others(1): Show HG02572.hp2 HG04115.hp1 NA18522.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0022 others(1): Show a0001c0001 a0001c0003 a0001c0022 a0001c0043	a0001c0001t0001 a0001c0003t0001 a0001c0022t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0022t0001 a0001c0043t0001	a0001c0001t0001g0006 a0001c0003t0001g0011 a0001c0022t0001g0041 others(1): Show a0001c0001t0001g0006 a0001c0003t0001g0011 a0001c0022t0001g0041 a0001c0043t0001g0051	4	118	0.0339	12	c.139 others(31): Show c.1399-5146_1399-5145insTACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54859972	G G	GCGCGCAC others(5): Show GCGCGCACACACA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	118	0.0085	12	c.162 others(33): Show c.1627-11566_1627-11565insGCGCACACACAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	17/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54859972	G G	GCGCGCGC others(5): Show GCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0102 a0001c0014t0001g0102	1	118	0.0085	12	c.162 others(33): Show c.1627-11566_1627-11565insGCGCGCGCGCAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	17/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54871204	C C	CACACACA others(5): Show CACACACACAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp2 NA18522.hp2 others(1): Show HG03453.hp1 HG03453.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0035 others(1): Show a0001c0002 a0001c0005 a0001c0035 a0001c0043	a0001c0002t0001 a0001c0005t0001 a0001c0035t0001 others(1): Show a0001c0002t0001 a0001c0005t0001 a0001c0035t0001 a0001c0043t0001	a0001c0002t0001g0039 a0001c0005t0001g0088 a0001c0035t0001g0049 others(1): Show a0001c0002t0001g0039 a0001c0005t0001g0088 a0001c0035t0001g0049 a0001c0043t0001g0051	4	118	0.0339	12	c.162 others(29): Show c.1627-326_1627-325insGAGACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	17/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883799	A A	ATCTCTCT others(5): Show ATCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp2 NA19043.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0035 a0001c0043 a0001c0001 a0001c0035 a0001c0043	a0001c0001t0001 a0001c0035t0001 a0001c0043t0001 a0001c0001t0001 a0001c0035t0001 a0001c0043t0001	a0001c0001t0001g0087 a0001c0035t0001g0049 a0001c0043t0001g0051 a0001c0001t0001g0087 a0001c0035t0001g0049 a0001c0043t0001g0051	3	118	0.0254	12	c.191 others(31): Show c.1913-1469_1913-1458dupTCTCTCTCTCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54891180	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 HG02572.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0037 a0001c0002t0001g0039 a0001c0001t0001g0037 a0001c0002t0001g0039	2	118	0.0170	12	c.215 others(29): Show c.2151-144_2151-133dupGTGTGTGTGTGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	24/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54898064	C C	CGCTTGCT others(5): Show CGCTTGCTTGCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02109.hp2 others(1): Show HG01106.hp2 HG01884.hp1 HG02109.hp2 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0023 a0001c0008 a0001c0023	a0001c0008t0001 a0001c0023t0001 a0001c0008t0001 a0001c0023t0001	a0001c0008t0001g0074 a0001c0008t0001g0092 a0001c0008t0001g0103 others(1): Show a0001c0008t0001g0074 a0001c0008t0001g0092 a0001c0008t0001g0103 a0001c0023t0001g0018	4	118	0.0339	12	c.236 others(31): Show c.2368+1207_2368+1218dupGCTTGCTTGCTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	26/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54911351	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG03130.hp1 others(2): Show HG02630.hp2 HG02922.hp2 HG03130.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0001c0035 a0001c0043	a0001c0001t0003 a0001c0002t0001 a0001c0010t0003 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0010t0003 a0001c0035t0001 a0001c0043t0001	a0001c0001t0003g0058 a0001c0002t0001g0081 a0001c0010t0003g0057 others(2): Show a0001c0001t0003g0058 a0001c0002t0001g0081 a0001c0010t0003g0057 a0001c0035t0001g0049 a0001c0043t0001g0051	5	118	0.0424	12	c.244 others(33): Show c.2449+11494_2449+11505dupTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	27/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54933051	C C	CCCTCCCT others(5): Show CCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	118	0.0085	12	c.244 others(33): Show c.2449+33186_2449+33187insCCCTCCCTTCCT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	27/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55008886	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0023 a0001c0021t0002g0023	1	118	0.0085	12	c.282 others(29): Show c.2820-501_2820-500insCACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	33/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55008886	T T	TACACACG others(5): Show TACACACGCACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp2 HG02615.hp1 HG03098.hp2	a0001 a0001	a0001c0034 a0001c0038 a0001c0034 a0001c0038	a0001c0034t0001 a0001c0038t0010 a0001c0034t0001 a0001c0038t0010	a0001c0034t0001g0086 a0001c0038t0010g0059 a0001c0034t0001g0086 a0001c0038t0010g0059	2	118	0.0170	12	c.282 others(29): Show c.2820-501_2820-500insCACACGCACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	33/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55008888	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG04115.hp2 HG02622.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0080 a0001c0004t0001g0022 a0001c0001t0001g0080 a0001c0004t0001g0022	2	118	0.0170	12	c.282 others(29): Show c.2820-474_2820-463dupCACACACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	33/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55019079	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG02258.hp1 others(6): Show HG00099.hp1 HG01106.hp1 HG02258.hp1 HG02300.hp1 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0022 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0005t0003 a0001c0022t0001 a0001c0029t0001	a0001c0001t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0060 others(6): Show a0001c0001t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0002g0066 a0001c0004t0002g0008 a0001c0005t0003g0055 a0001c0022t0001g0041 a0001c0029t0001g0096	9	118	0.0763	12	c.298 others(29): Show c.2987+782_2987+793dupCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55021643	A A	ATATATAT others(5): Show ATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0023 a0001c0021t0002g0023	1	118	0.0085	12	c.298 others(31): Show c.2987+3327_2987+3328insATATATATGTGT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55021651	A A	ATATATAT others(5): Show ATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0023 a0001c0021t0002g0023	1	118	0.0085	12	c.298 others(31): Show c.2987+3341_2987+3342insATGTGTATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55033816	A A	ATTAAATA others(5): Show ATTAAATATATTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02630.hp1 others(15): Show HG01884.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0014 a0001c0026 a0001c0035 a0001c0043	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 a0001c0009t0001 a0001c0014t0001 a0001c0026t0009 a0001c0035t0001 a0001c0043t0001	a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0053 others(15): Show a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0003g0058 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0082 a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0008t0001g0103 a0001c0009t0001g0013 a0001c0014t0001g0102 a0001c0026t0009g0073 a0001c0035t0001g0049 a0001c0043t0001g0051	18	118	0.1525	12	c.298 others(33): Show c.2987+15500_2987+15511dupTTAAATATATTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55038864	C C	CTATATAT others(5): Show CTATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp2 HG02615.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0034 a0001c0001 a0001c0034	a0001c0001t0001 a0001c0034t0001 a0001c0001t0001 a0001c0034t0001	a0001c0001t0001g0024 a0001c0034t0001g0086 a0001c0001t0001g0024 a0001c0034t0001g0086	2	118	0.0170	12	c.298 others(33): Show c.2987+20580_2987+20591dupTATATATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	55067716	G G	GATACATA others(5): Show GATACATACATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG01255.hp2 others(9): Show HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01934.hp2 HG02080.hp2 HG02300.hp2 HG02965.hp1 HG03130.hp2 HG03516.hp1 NA18979.hp2 NA19030.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0021 a0001c0028 a0001c0033	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0006 a0001c0004t0001 a0001c0006t0007 a0001c0009t0008 a0001c0021t0002 a0001c0028t0001 a0001c0033t0001	a0001c0001t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0070 others(9): Show a0001c0001t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0070 a0001c0002t0001g0082 a0001c0002t0004g0001 a0001c0003t0006g0064 a0001c0004t0001g0007 a0001c0006t0007g0098 a0001c0009t0008g0077 a0001c0021t0002g0023 a0001c0028t0001g0090 a0001c0033t0001g0114	12	118	0.1017	12	c.298 others(31): Show c.2988-5709_2988-5698dupCATACATACATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D4_chr12_1786963_1923652	1802015	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18612.hp2 HG02523.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0130 a0001c0001t0003g0038 a0001c0001t0003g0130	2	318	0.0063	12	c.272 others(29): Show c.2722-383_2722-372dupCACACACACACA	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	29/37			chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1848762	A A	AATTATTA others(5): Show AATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01257.hp2 HG02109.hp2 others(13): Show HG01167.hp1 HG01257.hp2 HG02109.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18983.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1	a0001 a0006 a0018 a0001 a0006 a0018	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0025 a0006c0038 a0006c0051 a0018c0050	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0006t0001 a0001c0006t0008 a0001c0006t0018 a0001c0009t0001 a0001c0010t0001 a0001c0011t0011 a0001c0025t0003 a0006c0038t0001 a0006c0051t0001 a0018c0050t0017	a0001c0001t0001g0151 a0001c0001t0001g0218 a0001c0001t0002g0150 others(13): Show a0001c0001t0001g0151 a0001c0001t0001g0218 a0001c0001t0002g0150 a0001c0003t0002g0061 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0008g0285 a0001c0006t0018g0011 a0001c0009t0001g0053 a0001c0010t0001g0057 a0001c0010t0001g0062 a0001c0011t0011g0292 a0001c0025t0003g0054 a0006c0038t0001g0116 a0006c0051t0001g0281 a0018c0050t0017g0010	16	318	0.0503	12	c.224 others(31): Show c.2247-2085_2247-2074dupAATAATAATAAT	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding	23/37			chr12	TogoVar
CACNB1_chr17_39168453_39202669	39182700	A A	AAAATAAA others(5): Show AAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp1 HG00735.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	396	0.0051	12	c.105 others(31): Show c.1050+1001_1050+1012dupATTTATTTATTT	CACNB1	ENSG00000067191.17	transcript	ENST00000394303.8	protein_coding	11/13			chr17	TogoVar
CACNB2_chr10_18135424_18548557	18137084	C C	CTCCTTCC others(5): Show CTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01433.hp1 HG01433.hp2 others(31): Show HG01069.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 NA18952.hp2 NA18973.hp1 NA18983.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19043.hp2 NA19070.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0033 a0001c0001t0040 a0001c0002t0002 a0001c0002t0005 a0001c0002t0030 a0001c0002t0057 a0001c0004t0010 a0002c0003t0013 a0002c0003t0014 a0002c0003t0052 a0002c0003t0056	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(31): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0003g0072 a0001c0001t0003g0172 a0001c0001t0004g0150 a0001c0001t0004g0163 a0001c0001t0006g0017 a0001c0001t0006g0023 a0001c0001t0006g0174 a0001c0001t0007g0039 a0001c0001t0007g0088 a0001c0001t0008g0083 a0001c0001t0009g0052 a0001c0001t0009g0168 a0001c0001t0009g0169 a0001c0001t0009g0177 a0001c0001t0033g0130 a0001c0001t0040g0021 a0001c0002t0002g0035 a0001c0002t0002g0041 a0001c0002t0002g0070 a0001c0002t0005g0200 a0001c0002t0030g0046 a0001c0002t0057g0151 a0001c0004t0010g0084 a0001c0004t0010g0116 a0002c0003t0013g0022 a0002c0003t0014g0078 a0002c0003t0052g0024 a0002c0003t0056g0053	34	200	0.1700	12	c.-36 others(23): Show c.-3653_-3652insTCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		3339		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18137129	T T	TCCTTCCT others(5): Show TCCTTCCTTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	200	0.0050	12	c.-36 others(23): Show c.-3608_-3607insCCTTCCTTCCTC	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		3294		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00741.hp1 HG01074.hp1 HG01496.hp2 others(7): Show HG00741.hp1 HG01074.hp1 HG01496.hp2 HG01978.hp1 HG02300.hp2 HG02523.hp2 HG04199.hp1 NA18983.hp1 NA19005.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0002t0002 a0001c0002t0005 a0001c0002t0030 a0001c0002t0044	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0003g0136 a0001c0001t0012g0135 a0001c0002t0002g0035 a0001c0002t0002g0065 a0001c0002t0005g0137 a0001c0002t0030g0046 a0001c0002t0044g0138	10	200	0.0500	12	c.121 others(24): Show c.121-14_121-3dupTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18153563	C C	CTTATTTA others(5): Show CTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01167.hp1 others(17): Show HG00438.hp2 HG00741.hp2 HG01167.hp1 HG02040.hp1 HG02145.hp2 HG02257.hp2 HG02615.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03471.hp1 NA18522.hp2 NA18941.hp1 NA18989.hp1 NA19070.hp2 NA19084.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0039 a0001c0002t0002 a0001c0002t0057 a0001c0002t0058 a0002c0003t0024	a0001c0001t0001g0058 a0001c0001t0003g0081 a0001c0001t0003g0199 others(17): Show a0001c0001t0001g0058 a0001c0001t0003g0081 a0001c0001t0003g0199 a0001c0001t0004g0149 a0001c0001t0004g0152 a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0006g0017 a0001c0001t0008g0180 a0001c0001t0009g0160 a0001c0001t0012g0198 a0001c0001t0039g0062 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0178 a0001c0002t0057g0151 a0001c0002t0058g0159 a0002c0003t0024g0141	20	200	0.1000	12	c.213 others(29): Show c.213+2611_213+2622dupATTTATTTATTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18153576	T T	TTATTTAT others(5): Show TTATTTATTTATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	200	0.0050	12	c.213 others(29): Show c.213+2612_213+2613insATATTTATTTAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18168497	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	200	0.0050	12	c.213 others(31): Show c.213+17533_213+17544dupTGTGTGTGTGTG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18171521	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp1 HG04228.hp2 HG02451.hp1 HG03139.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0015 a0001c0006t0049 a0001c0001t0001 a0001c0002t0015 a0001c0006t0049	a0001c0001t0001g0067 a0001c0002t0015g0020 a0001c0006t0049g0076 a0001c0001t0001g0067 a0001c0002t0015g0020 a0001c0006t0049g0076	3	200	0.0150	12	c.213 others(31): Show c.213+20563_213+20574dupAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18171543	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02922.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019	a0001c0001t0001g0002 a0001c0001t0011g0125 a0001c0001t0012g0003 others(2): Show a0001c0001t0001g0002 a0001c0001t0011g0125 a0001c0001t0012g0003 a0001c0001t0019g0124 a0001c0001t0019g0126	5	200	0.0250	12	c.213 others(31): Show c.213+20574_213+20575insAAAAAGAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18172924	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18994.hp1 NA19082.hp1 HG02145.hp1 NA18994.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0040 a0001c0002t0017 a0001c0001t0001 a0001c0001t0040 a0001c0002t0017	a0001c0001t0001g0008 a0001c0001t0040g0021 a0001c0002t0017g0164 a0001c0001t0001g0008 a0001c0001t0040g0021 a0001c0002t0017g0164	3	200	0.0150	12	c.213 others(31): Show c.213+21953_213+21964dupTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18192268	G G	GTTCATTC others(5): Show GTTCATTCATTCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(128): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18941.hp1 NA18941.hp2 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(41): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0054 a0001c0002t0002 a0001c0002t0005 a0001c0002t0015 a0001c0002t0017 a0001c0002t0020 a0001c0002t0027 a0001c0002t0044 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0004t0010 a0001c0004t0038 a0001c0005t0022 a0001c0006t0049 a0002c0003t0013 a0002c0003t0014 a0002c0003t0024 a0002c0003t0025 a0002c0003t0056	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 others(128): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0003g0030 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0003g0072 a0001c0001t0003g0080 a0001c0001t0003g0087 a0001c0001t0003g0095 a0001c0001t0003g0108 a0001c0001t0003g0115 a0001c0001t0003g0136 a0001c0001t0003g0144 a0001c0001t0004g0149 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0006g0005 a0001c0001t0006g0134 a0001c0001t0007g0039 a0001c0001t0007g0088 a0001c0001t0007g0182 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0008g0063 a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0001t0009g0052 a0001c0001t0009g0160 a0001c0001t0009g0177 a0001c0001t0011g0029 a0001c0001t0011g0055 a0001c0001t0012g0135 a0001c0001t0016g0089 a0001c0001t0016g0181 a0001c0001t0021g0060 a0001c0001t0021g0077 a0001c0001t0029g0009 a0001c0001t0031g0056 a0001c0001t0032g0120 a0001c0001t0033g0130 a0001c0001t0035g0086 a0001c0001t0036g0176 a0001c0001t0037g0194 a0001c0001t0041g0074 a0001c0001t0042g0093 a0001c0001t0046g0102 a0001c0001t0047g0001 a0001c0001t0048g0195 a0001c0001t0050g0040 a0001c0001t0054g0162 a0001c0002t0002g0004 a0001c0002t0002g0042 a0001c0002t0002g0050 a0001c0002t0002g0065 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0075 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0106 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0183 a0001c0002t0002g0187 a0001c0002t0005g0038 a0001c0002t0005g0051 a0001c0002t0005g0057 a0001c0002t0005g0097 a0001c0002t0005g0100 a0001c0002t0005g0105 a0001c0002t0005g0118 a0001c0002t0005g0121 a0001c0002t0005g0137 a0001c0002t0005g0200 a0001c0002t0015g0020 a0001c0002t0017g0148 a0001c0002t0017g0154 a0001c0002t0020g0103 a0001c0002t0020g0145 a0001c0002t0027g0016 a0001c0002t0044g0138 a0001c0002t0058g0159 a0001c0002t0059g0054 a0001c0002t0060g0155 a0001c0004t0010g0084 a0001c0004t0010g0085 a0001c0004t0010g0116 a0001c0004t0010g0122 a0001c0004t0038g0139 a0001c0005t0022g0090 a0001c0005t0022g0186 a0001c0006t0049g0076 a0002c0003t0013g0109 a0002c0003t0013g0175 a0002c0003t0014g0073 a0002c0003t0014g0078 a0002c0003t0014g0111 a0002c0003t0024g0110 a0002c0003t0025g0012 a0002c0003t0056g0053	131	200	0.6550	12	c.213 others(31): Show c.213+41303_213+41314dupTCATTCATTCAT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18199941	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02970.hp2 others(4): Show HG02258.hp2 HG02280.hp2 HG02970.hp2 HG03486.hp1 HG04199.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0032 a0001c0001t0033 a0001c0002t0002 a0001c0002t0005	a0001c0001t0003g0172 a0001c0001t0006g0174 a0001c0001t0008g0082 others(4): Show a0001c0001t0003g0172 a0001c0001t0006g0174 a0001c0001t0008g0082 a0001c0001t0032g0120 a0001c0001t0033g0130 a0001c0002t0002g0187 a0001c0002t0005g0137	7	200	0.0350	12	c.213 others(31): Show c.213+48998_213+49009dupGTGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18220215	A A	AGAGAGGG others(5): Show AGAGAGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0060 a0001c0001t0021g0060	1	200	0.0050	12	c.213 others(31): Show c.213+69240_213+69241insGAGAGGGGGGGG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13			chr10	TogoVar
CACNB2_chr10_18135424_18548557	18220219	A A	AGAGAGAG others(5): Show AGAGAGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0159 a0001c0002t0058g0159	1	200	0.0050	12	c.213 others(31): Show c.213+69244_213+69245insGAGAGAGGGTGG	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13			chr10	TogoVar

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