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
CACNA1A_chr19_13201442_13511479	13320236	T T	TTGAGAGA others(3): Show TTGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG01884.hp1 HG03516.hp2	a0003 a0004 a0003 a0004	a0003c0035 a0004c0123 a0003c0035 a0004c0123	a0003c0035t0024 a0004c0123t0009 a0003c0035t0024 a0004c0123t0009	a0003c0035t0024g0005 a0004c0123t0009g0077 a0003c0035t0024g0005 a0004c0123t0009g0077	2	218	0.0092	10	c.134 others(29): Show c.1346-2916_1346-2915insCTCTCTCTCA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13320237	C C	CGAGAGAG others(3): Show CGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00735.hp1 others(28): Show HG00099.hp2 HG00438.hp1 HG00735.hp1 HG01070.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01496.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 NA18939.hp1 NA18998.hp2 NA19012.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012	a0001c0001 a0001c0004 a0001c0018 others(16): Show a0001c0001 a0001c0004 a0001c0018 a0001c0020 a0001c0034 a0001c0049 a0001c0120 a0001c0125 a0002c0002 a0002c0003 a0002c0010 a0002c0019 a0002c0050 a0003c0054 a0003c0110 a0004c0007 a0006c0029 a0009c0014 a0012c0023	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0018t0001 a0001c0020t0001 a0001c0034t0001 a0001c0049t0001 a0001c0120t0004 a0001c0125t0013 a0002c0002t0002 a0002c0002t0006 a0002c0003t0002 a0002c0010t0002 a0002c0010t0003 a0002c0019t0002 a0002c0050t0002 a0003c0054t0043 a0003c0110t0006 a0004c0007t0001 a0006c0029t0003 a0009c0014t0002 a0012c0023t0003	a0001c0001t0001g0019 a0001c0001t0001g0115 a0001c0001t0001g0128 others(28): Show a0001c0001t0001g0019 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0218 a0001c0004t0001g0199 a0001c0018t0001g0037 a0001c0018t0001g0056 a0001c0020t0001g0188 a0001c0034t0001g0068 a0001c0049t0001g0012 a0001c0120t0004g0014 a0001c0125t0013g0209 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0130 a0002c0002t0006g0142 a0002c0003t0002g0126 a0002c0010t0002g0064 a0002c0010t0003g0023 a0002c0019t0002g0185 a0002c0050t0002g0088 a0003c0054t0043g0060 a0003c0110t0006g0137 a0004c0007t0001g0049 a0004c0007t0001g0114 a0006c0029t0003g0169 a0009c0014t0002g0048 a0009c0014t0002g0195 a0012c0023t0003g0180	31	218	0.1422	10	c.134 others(29): Show c.1346-2926_1346-2917dupTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13334549	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0007 a0016c0028t0007	a0016c0028t0007g0073 a0016c0028t0007g0084 a0016c0028t0007g0073 a0016c0028t0007g0084	2	218	0.0092	10	c.108 others(25): Show c.1083-66_1083-57dupCACACACACA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	7/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336584	A A	AGAGAGAG others(3): Show AGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01106.hp2 others(6): Show HG00140.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01261.hp1 HG02293.hp2 HG02683.hp1 HG03834.hp2 NA18946.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0022 a0025 a0026	a0001c0001 a0002c0010 a0002c0050 others(5): Show a0001c0001 a0002c0010 a0002c0050 a0009c0051 a0009c0076 a0022c0095 a0025c0041 a0026c0042	a0001c0001t0001 a0001c0001t0004 a0002c0010t0003 others(6): Show a0001c0001t0001 a0001c0001t0004 a0002c0010t0003 a0002c0050t0002 a0009c0051t0002 a0009c0076t0002 a0022c0095t0003 a0025c0041t0004 a0026c0042t0001	a0001c0001t0001g0019 a0001c0001t0004g0218 a0002c0010t0003g0023 others(6): Show a0001c0001t0001g0019 a0001c0001t0004g0218 a0002c0010t0003g0023 a0002c0050t0002g0088 a0009c0051t0002g0184 a0009c0076t0002g0108 a0022c0095t0003g0183 a0025c0041t0004g0107 a0026c0042t0001g0089	9	218	0.0413	10	c.979 others(25): Show c.979-685_979-676dupCCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGAG others(3): Show GGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA21309.hp2 HG02055.hp1 NA21309.hp2	a0001 a0021 a0001 a0021	a0001c0126 a0021c0090 a0001c0126 a0021c0090	a0001c0126t0022 a0021c0090t0007 a0001c0126t0022 a0021c0090t0007	a0001c0126t0022g0006 a0021c0090t0007g0162 a0001c0126t0022g0006 a0021c0090t0007g0162	2	218	0.0092	10	c.979 others(25): Show c.979-695_979-686dupTCTCTCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGAGGG others(3): Show GGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0084 a0003c0084	a0003c0084t0016 a0003c0084t0016	a0003c0084t0016g0145 a0003c0084t0016g0145	1	218	0.0046	10	c.979 others(25): Show c.979-686_979-685insTCTCCCTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13336594	G G	GGAGGGAG others(3): Show GGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0044 a0044	a0044c0112 a0044c0112	a0044c0112t0012 a0044c0112t0012	a0044c0112t0012g0206 a0044c0112t0012g0206	1	218	0.0046	10	c.979 others(25): Show c.979-686_979-685insTCTCTCCCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13360265	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA20905.hp2 HG04184.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0020 a0002c0002 a0001c0020 a0002c0002	a0001c0020t0001 a0002c0002t0002 a0001c0020t0001 a0002c0002t0002	a0001c0020t0001g0051 a0002c0002t0002g0130 a0001c0020t0001g0051 a0002c0002t0002g0130	2	218	0.0092	10	c.785 others(25): Show c.785-476_785-467dupTATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	5/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402757	C C	CACATATA others(3): Show CACATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0021 a0021	a0021c0090 a0021c0090	a0021c0090t0007 a0021c0090t0007	a0021c0090t0007g0162 a0021c0090t0007g0162	1	218	0.0046	10	c.540 others(29): Show c.540-30988_540-30979dupATATATATGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402777	T T	TACATATA others(3): Show TACATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0204 a0001c0005t0008g0204	1	218	0.0046	10	c.540 others(29): Show c.540-30999_540-30998insGTATATATGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13402873	C C	CACATATA others(3): Show CACATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0007 a0001c0001t0001 a0002c0003t0007	a0001c0001t0001g0193 a0001c0001t0001g0194 a0002c0003t0007g0086 a0001c0001t0001g0193 a0001c0001t0001g0194 a0002c0003t0007g0086	3	218	0.0138	10	c.540 others(29): Show c.540-31095_540-31094insATATATATGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406465	T T	TTATATAT others(3): Show TTATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18948.hp1 NA18977.hp2 HG01261.hp1 NA18948.hp1 NA18977.hp2	a0002 a0009 a0002 a0009	a0002c0003 a0009c0051 a0002c0003 a0009c0051	a0002c0003t0003 a0009c0051t0002 a0002c0003t0003 a0009c0051t0002	a0002c0003t0003g0061 a0002c0003t0003g0166 a0009c0051t0002g0184 a0002c0003t0003g0061 a0002c0003t0003g0166 a0009c0051t0002g0184	3	218	0.0138	10	c.540 others(29): Show c.540-34696_540-34687dupTATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13406509	A A	ATATATAT others(3): Show ATATATATATG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03942.hp1 HG02486.hp2 HG03942.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0007 a0001c0004 a0004c0007	a0001c0004t0001 a0004c0007t0004 a0001c0004t0001 a0004c0007t0004	a0001c0004t0001g0078 a0004c0007t0004g0105 a0001c0004t0001g0078 a0004c0007t0004g0105	2	218	0.0092	10	c.540 others(29): Show c.540-34731_540-34730insCATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13416127	G G	GTCTTGCT others(3): Show GTCTTGCTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0123 a0004c0123	a0004c0123t0009 a0004c0123t0009	a0004c0123t0009g0077 a0004c0123t0009g0077	1	218	0.0046	10	c.539 others(29): Show c.539+36739_539+36748dupAAGAGCAAGA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13461340	A A	AAAAACAA others(3): Show AAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(26): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG01099.hp1 HG01106.hp1 HG01169.hp2 HG01884.hp2 HG01952.hp1 HG01993.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02976.hp1 HG03516.hp1 HG04115.hp2 NA18948.hp1 NA18948.hp2 NA18964.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA19000.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0006 a0007 a0011 a0015 a0021 a0022 a0027 a0028 a0029 a0032	a0001c0001 a0001c0006 a0001c0018 others(21): Show a0001c0001 a0001c0006 a0001c0018 a0001c0038 a0002c0003 a0002c0019 a0002c0101 a0003c0015 a0003c0054 a0003c0094 a0005c0102 a0006c0011 a0007c0009 a0007c0075 a0007c0100 a0011c0025 a0015c0021 a0021c0090 a0021c0092 a0022c0095 a0027c0064 a0028c0119 a0029c0063 a0032c0045	a0001c0001t0001 a0001c0006t0005 a0001c0006t0008 others(25): Show a0001c0001t0001 a0001c0006t0005 a0001c0006t0008 a0001c0018t0001 a0001c0038t0007 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0019t0002 a0002c0101t0006 a0003c0015t0002 a0003c0054t0043 a0003c0094t0018 a0005c0102t0003 a0006c0011t0003 a0007c0009t0034 a0007c0075t0003 a0007c0100t0017 a0011c0025t0011 a0015c0021t0004 a0015c0021t0010 a0021c0090t0007 a0021c0092t0016 a0022c0095t0003 a0027c0064t0004 a0028c0119t0026 a0029c0063t0002 a0032c0045t0005	a0001c0001t0001g0025 a0001c0006t0005g0110 a0001c0006t0008g0217 others(26): Show a0001c0001t0001g0025 a0001c0006t0005g0110 a0001c0006t0008g0217 a0001c0018t0001g0037 a0001c0038t0007g0205 a0002c0003t0002g0053 a0002c0003t0003g0166 a0002c0003t0003g0177 a0002c0003t0007g0086 a0002c0019t0002g0185 a0002c0101t0006g0150 a0003c0015t0002g0167 a0003c0054t0043g0060 a0003c0094t0018g0208 a0005c0102t0003g0122 a0006c0011t0003g0070 a0007c0009t0034g0163 a0007c0075t0003g0190 a0007c0100t0017g0039 a0011c0025t0011g0038 a0015c0021t0004g0044 a0015c0021t0010g0045 a0021c0090t0007g0162 a0021c0092t0016g0203 a0022c0095t0003g0183 a0027c0064t0004g0101 a0028c0119t0026g0131 a0029c0063t0002g0196 a0032c0045t0005g0191	29	218	0.1330	10	c.294 others(27): Show c.294-6138_294-6129dupGTTTTGTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13482848	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0007 a0007	a0007c0100 a0007c0100	a0007c0100t0017 a0007c0100t0017	a0007c0100t0017g0039 a0007c0100t0017g0039	1	218	0.0046	10	c.293 others(29): Show c.293+23074_293+23083dupCACACACACA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13489003	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02970.hp1 others(2): Show HG02630.hp1 HG02809.hp2 HG02970.hp1 HG03225.hp2 HG03704.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0016 a0001c0034 a0002c0117 others(2): Show a0001c0016 a0001c0034 a0002c0117 a0003c0094 a0003c0110	a0001c0016t0004 a0001c0034t0001 a0002c0117t0009 others(2): Show a0001c0016t0004 a0001c0034t0001 a0002c0117t0009 a0003c0094t0018 a0003c0110t0006	a0001c0016t0004g0074 a0001c0034t0001g0072 a0002c0117t0009g0079 others(2): Show a0001c0016t0004g0074 a0001c0034t0001g0072 a0002c0117t0009g0079 a0003c0094t0018g0208 a0003c0110t0006g0137	5	218	0.0229	10	c.293 others(29): Show c.293+16919_293+16928dupAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510056	A A	AGGGGGGA others(3): Show AGGGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(44): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp2 HG02109.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02602.hp1 HG02683.hp2 HG02809.hp1 HG02896.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp2 NA18946.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18998.hp2 NA19012.hp2 NA19043.hp1 NA19084.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0014 a0015 a0016 a0019 a0020 a0021 a0028 a0030 a0031	a0001c0001 a0001c0004 a0001c0006 others(33): Show a0001c0001 a0001c0004 a0001c0006 a0001c0016 a0001c0018 a0001c0034 a0002c0002 a0002c0003 a0002c0010 a0002c0030 a0002c0101 a0002c0124 a0003c0013 a0003c0054 a0003c0055 a0003c0084 a0003c0105 a0003c0110 a0004c0080 a0005c0033 a0006c0011 a0006c0060 a0007c0118 a0008c0012 a0011c0043 a0012c0065 a0014c0115 a0015c0021 a0016c0028 a0019c0079 a0020c0074 a0020c0078 a0021c0090 a0028c0119 a0030c0062 a0031c0061	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(38): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0006t0008 a0001c0006t0029 a0001c0016t0004 a0001c0018t0001 a0001c0034t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0015 a0002c0003t0002 a0002c0003t0003 a0002c0010t0002 a0002c0030t0002 a0002c0101t0006 a0002c0124t0006 a0003c0013t0027 a0003c0054t0043 a0003c0055t0044 a0003c0084t0016 a0003c0105t0030 a0003c0110t0006 a0004c0080t0009 a0005c0033t0011 a0006c0011t0003 a0006c0060t0002 a0007c0118t0002 a0008c0012t0003 a0011c0043t0015 a0012c0065t0017 a0014c0115t0004 a0015c0021t0004 a0016c0028t0007 a0019c0079t0007 a0020c0074t0012 a0020c0078t0019 a0021c0090t0007 a0028c0119t0026 a0030c0062t0002 a0031c0061t0003	a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0128 others(44): Show a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0128 a0001c0001t0004g0017 a0001c0004t0001g0199 a0001c0006t0008g0148 a0001c0006t0029g0136 a0001c0016t0004g0047 a0001c0018t0001g0056 a0001c0034t0001g0068 a0002c0002t0002g0011 a0002c0002t0002g0130 a0002c0002t0003g0090 a0002c0002t0015g0160 a0002c0003t0002g0053 a0002c0003t0002g0126 a0002c0003t0003g0127 a0002c0003t0003g0177 a0002c0010t0002g0054 a0002c0010t0002g0064 a0002c0030t0002g0165 a0002c0101t0006g0150 a0002c0124t0006g0132 a0003c0013t0027g0149 a0003c0054t0043g0060 a0003c0055t0044g0071 a0003c0084t0016g0145 a0003c0105t0030g0141 a0003c0110t0006g0137 a0004c0080t0009g0129 a0005c0033t0011g0010 a0006c0011t0003g0070 a0006c0060t0002g0016 a0007c0118t0002g0052 a0008c0012t0003g0015 a0011c0043t0015g0043 a0012c0065t0017g0055 a0014c0115t0004g0066 a0015c0021t0004g0044 a0016c0028t0007g0084 a0019c0079t0007g0067 a0020c0074t0012g0161 a0020c0078t0019g0151 a0021c0090t0007g0162 a0028c0119t0026g0131 a0030c0062t0002g0124 a0031c0061t0003g0106	47	218	0.2156	10	c.-38 others(21): Show c.-3833_-3832insCCCTCCCCCC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3578		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954856	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02886.hp1 others(1): Show HG01891.hp1 HG02615.hp1 HG02886.hp1 HG02897.hp1	a0006 a0022 a0006 a0022	a0006c0014 a0006c0026 a0022c0028 a0006c0014 a0006c0026 a0022c0028	a0006c0014t0006 a0006c0026t0006 a0022c0028t0021 a0006c0014t0006 a0006c0026t0006 a0022c0028t0021	a0006c0014t0006g0140 a0006c0014t0006g0142 a0006c0026t0006g0144 others(1): Show a0006c0014t0006g0140 a0006c0014t0006g0142 a0006c0026t0006g0144 a0022c0028t0021g0156	4	248	0.0161	10	c.107 others(27): Show c.1071-827_1071-818dupTGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138052249	C C	CGTGTGTG others(3): Show CGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG03471.hp2 others(1): Show HG02486.hp1 HG02647.hp2 HG03471.hp2 NA19043.hp2	a0001 a0009 a0001 a0009	a0001c0053 a0009c0021 a0001c0053 a0009c0021	a0001c0053t0028 a0009c0021t0010 a0009c0021t0019 a0001c0053t0028 a0009c0021t0010 a0009c0021t0019	a0001c0053t0028g0105 a0009c0021t0010g0004 a0009c0021t0019g0003 others(1): Show a0001c0053t0028g0105 a0009c0021t0010g0004 a0009c0021t0019g0003 a0009c0021t0019g0005	4	248	0.0161	10	c.380 others(25): Show c.3807+68_3807+69insCGTGTGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	25/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138090701	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0018 a0002c0004t0001g0018	1	248	0.0040	10	c.509 others(29): Show c.5095-5759_5095-5750dupAAAAAAAAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138094457	A A	AAAAGAAG others(3): Show AAAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18944.hp2 NA18939.hp2 NA18944.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0020 a0001c0022t0002 a0001c0022t0020	a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0022t0002g0001 a0001c0022t0020g0002	2	248	0.0081	10	c.509 others(29): Show c.5095-2025_5095-2024insAGAAGAAGAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138110082	C C	CATATATA others(3): Show CATATATATAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0082 a0001c0005t0004g0082	1	248	0.0040	10	c.542 others(29): Show c.5429-2315_5429-2314insTATATATAGA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	39/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2067449	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0045 a0001c0003t0002g0045	1	104	0.0096	10	c.49+ others(27): Show c.49+13862_49+13871dupTGTGTGTGTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2067481	T T	TGTGTGTG others(3): Show TGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01071.hp1 others(15): Show HG00140.hp1 HG00140.hp2 HG01071.hp1 HG01358.hp2 HG01993.hp2 HG02145.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG04115.hp1 HG06807.hp1 NA18906.hp1 NA19003.hp2 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0011 a0001c0014 a0001c0019 a0001c0031 a0003c0016 a0004c0034 a0004c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0017 a0001c0002t0001 a0001c0006t0001 a0001c0008t0033 a0001c0008t0038 a0001c0011t0014 a0001c0014t0032 a0001c0019t0003 a0001c0031t0002 a0003c0016t0011 a0004c0034t0009 a0004c0039t0009	a0001c0001t0001g0029 a0001c0001t0002g0049 a0001c0001t0004g0008 others(15): Show a0001c0001t0001g0029 a0001c0001t0002g0049 a0001c0001t0004g0008 a0001c0001t0005g0042 a0001c0001t0017g0004 a0001c0002t0001g0036 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0006t0001g0033 a0001c0008t0033g0051 a0001c0008t0038g0044 a0001c0011t0014g0007 a0001c0014t0032g0023 a0001c0019t0003g0071 a0001c0031t0002g0021 a0003c0016t0011g0082 a0004c0034t0009g0041 a0004c0039t0009g0040	18	104	0.1731	10	c.49+ others(27): Show c.49+13871_49+13872insTGTGTGTGCG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2080272	C C	CAAAAACA others(3): Show CAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	104	0.0096	10	c.49+ others(27): Show c.49+26666_49+26675dupACAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2420102	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02723.hp1 others(3): Show HG01891.hp2 HG02055.hp1 HG02723.hp1 HG02922.hp1 HG03579.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0002c0040	a0001c0001t0021 a0001c0001t0043 a0001c0004t0023 others(3): Show a0001c0001t0021 a0001c0001t0043 a0001c0004t0023 a0001c0004t0036 a0001c0011t0030 a0002c0040t0016	a0001c0001t0021g0055 a0001c0001t0043g0032 a0001c0004t0023g0028 others(3): Show a0001c0001t0021g0055 a0001c0001t0043g0032 a0001c0004t0023g0028 a0001c0004t0036g0099 a0001c0011t0030g0039 a0002c0040t0016g0073	6	104	0.0577	10	c.478 others(29): Show c.478-28837_478-28828dupGTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2497969	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026	3	104	0.0289	10	c.111 others(29): Show c.1113+4608_1113+4617dupCACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2501209	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0101 a0001c0001t0017g0101	1	104	0.0096	10	c.111 others(29): Show c.1114-3211_1114-3202dupAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2511571	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0009 a0004c0039t0009	a0004c0039t0009g0040 a0004c0039t0009g0040	1	104	0.0096	10	c.121 others(29): Show c.1218-1229_1218-1220dupCACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	8/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp2 HG03139.hp1 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0039 a0001c0001 a0004c0039	a0001c0001t0024 a0004c0039t0009 a0001c0001t0024 a0004c0039t0009	a0001c0001t0024g0080 a0004c0039t0009g0040 a0001c0001t0024g0080 a0004c0039t0009g0040	2	104	0.0192	10	c.139 others(31): Show c.1391-14219_1391-14210dupAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2661280	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0004 a0004	a0004c0034 a0004c0039 a0004c0034 a0004c0039	a0004c0034t0009 a0004c0039t0009 a0004c0034t0009 a0004c0039t0009	a0004c0034t0009g0041 a0004c0039t0009g0040 a0004c0034t0009g0041 a0004c0039t0009g0040	2	104	0.0192	10	c.423 others(29): Show c.4233-3519_4233-3510dupCACACACACA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	34/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53538141	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG06807.hp1 HG03209.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0006 a0001c0007t0031 a0001c0002t0006 a0001c0007t0031	a0001c0002t0006g0189 a0001c0007t0031g0194 a0001c0002t0006g0189 a0001c0007t0031g0194	2	210	0.0095	10	c.483 others(29): Show c.483+36438_483+36447dupTTTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53538166	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0191 a0001c0002t0063g0191	1	210	0.0048	10	c.483 others(29): Show c.483+36447_483+36448insTTTTTTTTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53648829	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA20300.hp2 HG02257.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0015 a0001c0008t0035 a0001c0002t0015 a0001c0008t0035	a0001c0002t0015g0117 a0001c0008t0035g0010 a0001c0002t0015g0117 a0001c0008t0035g0010	2	210	0.0095	10	c.484 others(27): Show c.484-1926_484-1917dupCACACACACA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53651366	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp2 NA19043.hp1 HG02572.hp2 HG02965.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0007 a0001c0002t0054 a0001c0007t0030 a0001c0002t0007 a0001c0002t0054 a0001c0007t0030	a0001c0002t0007g0006 a0001c0002t0054g0005 a0001c0007t0030g0008 a0001c0002t0007g0006 a0001c0002t0054g0005 a0001c0007t0030g0008	3	210	0.0143	10	c.623 others(25): Show c.623+461_623+470dupTTTTTTTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	4/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53672758	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18977.hp2 HG01934.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0043 a0001c0003t0037 a0001c0001t0043 a0001c0003t0037	a0001c0001t0043g0083 a0001c0003t0037g0020 a0001c0001t0043g0083 a0001c0003t0037g0020	2	210	0.0095	10	c.111 others(27): Show c.1117-903_1117-894dupGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	7/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0004 a0001c0001t0074g0004	1	210	0.0048	10	c.122 others(29): Show c.1220+8571_1220+8580dupAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713502	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0042 a0001c0013t0042	a0001c0013t0042g0102 a0001c0013t0042g0102	1	210	0.0048	10	c.139 others(29): Show c.1391-4766_1391-4757dupTGTGTGTGTG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGTG others(3): Show TGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp2 HG03209.hp1 others(1): Show HG01884.hp1 HG02717.hp2 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0017 a0001c0002 a0001c0011 a0001c0017	a0001c0002t0018 a0001c0002t0030 a0001c0011t0026 others(1): Show a0001c0002t0018 a0001c0002t0030 a0001c0011t0026 a0001c0017t0016	a0001c0002t0018g0029 a0001c0002t0030g0196 a0001c0011t0026g0116 others(1): Show a0001c0002t0018g0029 a0001c0002t0030g0196 a0001c0011t0026g0116 a0001c0017t0016g0112	4	210	0.0191	10	c.139 others(29): Show c.1391-4757_1391-4756insTGTGTGAGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53713543	T T	TGTGTGTG others(3): Show TGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0197 a0001c0002t0034g0197	1	210	0.0048	10	c.139 others(29): Show c.1391-4757_1391-4756insTGTGTGTGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	9/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782260	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0110 a0001c0001t0017g0110	1	210	0.0048	10	c.485 others(27): Show c.4852+594_4852+595insATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782262	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 NA19043.hp2 HG02572.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0074 a0001c0002t0016 a0001c0007t0030 a0001c0001t0074 a0001c0002t0016 a0001c0007t0030	a0001c0001t0074g0004 a0001c0002t0016g0129 a0001c0007t0030g0008 a0001c0001t0074g0004 a0001c0002t0016g0129 a0001c0007t0030g0008	3	210	0.0143	10	c.485 others(27): Show c.4852+596_4852+597insATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01516.hp1 HG02071.hp2 others(11): Show HG00280.hp1 HG01516.hp1 HG02071.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03209.hp2 NA18747.hp1 NA18986.hp2 NA19004.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0006 a0001c0002t0010 a0001c0002t0013 others(6): Show a0001c0002t0006 a0001c0002t0010 a0001c0002t0013 a0001c0002t0025 a0001c0002t0069 a0001c0003t0001 a0001c0003t0004 a0001c0004t0002 a0001c0004t0003	a0001c0002t0006g0011 a0001c0002t0006g0189 a0001c0002t0006g0192 others(11): Show a0001c0002t0006g0011 a0001c0002t0006g0189 a0001c0002t0006g0192 a0001c0002t0010g0138 a0001c0002t0010g0139 a0001c0002t0013g0044 a0001c0002t0025g0054 a0001c0002t0069g0039 a0001c0003t0001g0204 a0001c0003t0004g0155 a0001c0004t0002g0047 a0001c0004t0002g0052 a0001c0004t0002g0055 a0001c0004t0003g0079	14	210	0.0667	10	c.485 others(27): Show c.4852+617_4852+626dupATATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01928.hp1 others(2): Show HG01074.hp1 HG01256.hp2 HG01928.hp1 HG03225.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0022 a0001c0002t0015 others(1): Show a0001c0001t0004 a0001c0001t0022 a0001c0002t0015 a0001c0003t0003	a0001c0001t0004g0137 a0001c0001t0022g0060 a0001c0002t0015g0127 others(2): Show a0001c0001t0004g0137 a0001c0001t0022g0060 a0001c0002t0015g0127 a0001c0003t0003g0057 a0001c0003t0003g0094	5	210	0.0238	10	c.485 others(27): Show c.4852+598_4852+599insGTATATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53782264	G G	GTGTGTAT others(3): Show GTGTGTATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19002.hp2 HG04204.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0042 a0001c0001t0001 a0001c0013t0042	a0001c0001t0001g0142 a0001c0013t0042g0102 a0001c0001t0001g0142 a0001c0013t0042g0102	2	210	0.0095	10	c.485 others(27): Show c.4852+598_4852+599insGTGTATATAT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	40/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53787425	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00621.hp1 others(36): Show HG00099.hp1 HG00280.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01169.hp1 HG01496.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02258.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02976.hp2 HG03017.hp2 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG04199.hp1 HG04204.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0017 a0002c0016 a0004c0020	a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 others(28): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0029 a0001c0001t0033 a0001c0001t0045 a0001c0001t0068 a0001c0002t0009 a0001c0002t0027 a0001c0002t0028 a0001c0002t0055 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0008 a0001c0004t0039 a0001c0005t0078 a0001c0006t0001 a0001c0008t0005 a0001c0008t0007 a0001c0008t0009 a0001c0009t0056 a0001c0010t0038 a0001c0013t0042 a0001c0013t0050 a0001c0017t0016 a0002c0016t0059 a0004c0020t0004	a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0003g0084 others(36): Show a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0003g0084 a0001c0001t0003g0096 a0001c0001t0003g0128 a0001c0001t0004g0207 a0001c0001t0021g0130 a0001c0001t0021g0131 a0001c0001t0029g0143 a0001c0001t0033g0018 a0001c0001t0045g0063 a0001c0001t0068g0001 a0001c0002t0009g0107 a0001c0002t0027g0186 a0001c0002t0028g0188 a0001c0002t0028g0198 a0001c0002t0055g0013 a0001c0003t0001g0157 a0001c0003t0004g0014 a0001c0003t0004g0162 a0001c0004t0001g0134 a0001c0004t0002g0078 a0001c0004t0003g0079 a0001c0004t0004g0036 a0001c0004t0008g0048 a0001c0004t0039g0028 a0001c0005t0078g0027 a0001c0006t0001g0135 a0001c0008t0005g0058 a0001c0008t0007g0017 a0001c0008t0009g0076 a0001c0009t0056g0184 a0001c0010t0038g0019 a0001c0010t0038g0037 a0001c0013t0042g0102 a0001c0013t0050g0095 a0001c0017t0016g0112 a0002c0016t0059g0208 a0004c0020t0004g0182	39	210	0.1857	10	c.498 others(27): Show c.4983+493_4983+502dupGTGTGTGTGT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	41/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0045 a0001c0001t0067g0045	1	210	0.0048	10	c.625 others(27): Show c.6253-336_6253-327dupAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181481335	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG04115.hp1 HG00408.hp1 HG04115.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0001 a0001c0001t0005 a0003c0003t0001	a0001c0001t0005g0086 a0003c0003t0001g0033 a0001c0001t0005g0086 a0003c0003t0001g0033	2	206	0.0097	10	c.-24 others(21): Show c.-2410_-2409insACACACACAC	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding		2181		chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181508147	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp2 others(3): Show HG00280.hp1 HG01069.hp1 HG01071.hp2 HG02818.hp2 NA18906.hp2 NA19057.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0005 a0002c0002 a0003c0003 others(1): Show a0001c0005 a0002c0002 a0003c0003 a0006c0018	a0001c0005t0024 a0002c0002t0001 a0002c0002t0015 others(2): Show a0001c0005t0024 a0002c0002t0001 a0002c0002t0015 a0003c0003t0001 a0006c0018t0001	a0001c0005t0024g0003 a0002c0002t0001g0023 a0002c0002t0015g0048 others(3): Show a0001c0005t0024g0003 a0002c0002t0001g0023 a0002c0002t0015g0048 a0003c0003t0001g0119 a0003c0003t0001g0120 a0006c0018t0001g0056	6	206	0.0291	10	c.267 others(27): Show c.267-2311_267-2302dupTGTGTGTGTG	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr1	TogoVar

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