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
CA5A_chr16_87883013_87941529	87940803	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01069.hp2 others(7): Show HG00099.hp1 HG00140.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01192.hp2 HG01361.hp2 HG03195.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0001c0001t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0117 others(7): Show a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0237 a0001c0003t0002g0115 a0001c0004t0001g0367	10	400	0.0250	-11	c.-43 others(22): Show c.-4364_-4354delAAAAAAAAAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		4275		chr16	TogoVar
CA6_chr1_8940868_8980092	8942102	CTTTTTTG others(4): Show CTTTTTTGTTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0242 a0002c0001t0001g0242	1	452	0.0022	-11	c.-37 others(22): Show c.-3784_-3774delTTTTTTGTTTG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		3765		chr1	TogoVar
CA6_chr1_8940868_8980092	8973773	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG01069.hp2 others(32): Show HG00438.hp1 HG00741.hp1 HG01069.hp2 HG01099.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01891.hp2 HG01993.hp2 HG02132.hp1 HG02486.hp1 HG02572.hp2 HG02683.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG04184.hp1 HG04184.hp2 NA18939.hp2 NA18947.hp2 NA18961.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18992.hp2 NA19001.hp2 NA19011.hp1 NA19070.hp1 NA19089.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0012	a0001c0002 a0001c0006 a0002c0001 others(3): Show a0001c0002 a0001c0006 a0002c0001 a0003c0003 a0007c0007 a0012c0024	a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 a0001c0006t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0008 a0003c0003t0001 a0003c0003t0002 a0007c0007t0001 a0007c0007t0002 a0012c0024t0006	a0001c0002t0001g0375 a0001c0002t0002g0413 a0001c0006t0002g0175 others(30): Show a0001c0002t0001g0375 a0001c0002t0002g0413 a0001c0006t0002g0175 a0001c0006t0003g0235 a0001c0006t0003g0291 a0002c0001t0001g0002 a0002c0001t0001g0013 a0002c0001t0001g0167 a0002c0001t0001g0173 a0002c0001t0001g0180 a0002c0001t0001g0182 a0002c0001t0001g0302 a0002c0001t0001g0387 a0002c0001t0001g0390 a0002c0001t0001g0417 a0002c0001t0002g0297 a0002c0001t0002g0405 a0002c0001t0002g0406 a0002c0001t0008g0371 a0003c0003t0001g0035 a0003c0003t0001g0091 a0003c0003t0001g0095 a0003c0003t0002g0066 a0003c0003t0002g0078 a0003c0003t0002g0080 a0003c0003t0002g0082 a0003c0003t0002g0092 a0003c0003t0002g0094 a0007c0007t0001g0153 a0007c0007t0001g0165 a0007c0007t0001g0188 a0007c0007t0002g0189 a0012c0024t0006g0423	35	452	0.0774	-11	c.845 others(26): Show c.845-846_845-836delCTTTCTTTCTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8978636	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02145.hp1 others(4): Show HG01884.hp1 HG01891.hp2 HG02145.hp1 HG02280.hp1 HG02698.hp2 HG02723.hp1 NA18954.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0006 a0002c0001 a0004c0008 others(1): Show a0001c0006 a0002c0001 a0004c0008 a0005c0018	a0001c0006t0003 a0002c0001t0001 a0004c0008t0001 others(2): Show a0001c0006t0003 a0002c0001t0001 a0004c0008t0001 a0004c0008t0003 a0005c0018t0003	a0001c0006t0003g0006 a0002c0001t0001g0417 a0004c0008t0001g0214 others(4): Show a0001c0006t0003g0006 a0002c0001t0001g0417 a0004c0008t0001g0214 a0004c0008t0001g0215 a0004c0008t0001g0327 a0004c0008t0003g0332 a0005c0018t0003g0115	7	452	0.0155	-11	c.39 others(22): Show c.3933_*3943delAAAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		3545		chr1	TogoVar
CA7_chr16_66839414_66859147	66852596	AGAAAAGA others(4): Show AGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(134): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0003t0001g0047 a0001c0004t0001g0032 a0001c0005t0001g0004	137	394	0.3477	-11	c.517 others(26): Show c.517-115_517-105delGAAAAGAAAAG	CA7	ENSG00000168748.14	transcript	ENST00000338437.7	protein_coding	5/6			chr16	TogoVar
CA9_chr9_35668928_35686159	35672367	GAAAAGAA others(4): Show GAAAAGAAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03225.hp2 HG01891.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0033 a0001c0003t0001g0033	2	446	0.0045	-11	c.-15 others(22): Show c.-1592_-1582delAAAAGAAAAGA	CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding		1560		chr9	TogoVar
CA9_chr9_35668928_35686159	35678695	CTTTTCTT others(4): Show CTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0129 a0005c0015t0001g0129	1	446	0.0022	-11	c.908 others(26): Show c.908-485_908-475delCTTTTTTTTTT	CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
CAAP1_chr9_26835685_26897802	26846415	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(20): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00738.hp2 HG01123.hp2 HG01192.hp1 HG02080.hp2 HG02523.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG02970.hp2 HG03492.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp2 NA18990.hp1 NA19064.hp2 NA19077.hp1 NA19078.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0006c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0133 a0001c0001t0001g0134 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0005g0131 a0001c0001t0005g0145 a0001c0001t0007g0151 a0006c0009t0001g0139	23	372	0.0618	-11	c.740 others(28): Show c.740-3779_740-3769delTTTTTTTTTTT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAAP1_chr9_26835685_26897802	26847198	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 homoSapiens_chm13v2.hp1 HG01123.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0150 a0001c0001t0002g0227 a0001c0001t0001g0150 a0001c0001t0002g0227	2	372	0.0054	-11	c.740 others(28): Show c.740-4562_740-4552delAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAAP1_chr9_26835685_26897802	26888176	CTGTTAGC others(4): Show CTGTTAGCAGAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp2 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0080 a0001c0001t0004g0081	2	372	0.0054	-11	c.304 others(26): Show c.304-674_304-664delTTCTGCTAACA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	1/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49329545	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03540.hp1 HG03927.hp2 others(4): Show HG02145.hp1 HG03540.hp1 HG03927.hp2 NA18948.hp1 NA18973.hp1 NA18974.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0004g0206 a0001c0001t0004g0293 a0001c0002t0001g0073 others(4): Show a0001c0001t0004g0206 a0001c0001t0004g0293 a0001c0002t0001g0073 a0001c0002t0002g0148 a0001c0002t0002g0246 a0001c0002t0002g0248 a0001c0002t0003g0033	7	324	0.0216	-11	c.834 others(28): Show c.834+2391_834+2401delATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49442787	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00642.hp1 others(33): Show HG00408.hp2 HG00597.hp1 HG00642.hp1 HG01081.hp1 HG01192.hp2 HG01433.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02071.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18946.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp1 NA19007.hp2 NA19010.hp1 NA19065.hp2 NA19084.hp2 NA19086.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0004t0004	a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0002g0067 others(33): Show a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0258 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0002g0069 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0004t0004g0065	36	324	0.1111	-11	c.-24 others(30): Show c.-246+1188_-246+1198delTTTTTTTTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748826	AAAAAAAT others(4): Show AAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	342	0.0029	-11	c.-43 others(30): Show c.-43-11131_-43-11121delAAAAATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748832	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0232 a0001c0001t0030g0232	1	342	0.0029	-11	c.-43 others(30): Show c.-43-11126_-43-11116delTATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230813978	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG00642.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0327 a0001c0001t0004g0117 a0001c0001t0001g0327 a0001c0001t0004g0117	2	342	0.0059	-11	c.628 others(24): Show c.628-47_628-37delTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61713076	AATCTATA others(4): Show AATCTATAAATT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0304 a0001c0003t0002g0304	1	374	0.0027	-11	c.552 others(30): Show c.552+22457_552+22467delTCTATAAATTA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABIN1_chr22_24006304_24183628	24062346	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00558.hp2 others(33): Show HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00673.hp2 HG01069.hp2 HG01891.hp1 HG02015.hp2 HG02129.hp2 HG02155.hp2 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG03491.hp2 HG04199.hp1 NA18944.hp2 NA18947.hp1 NA18964.hp2 NA18966.hp1 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA18997.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19082.hp1 NA20300.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0002c0022 others(2): Show a0001c0001 a0002c0002 a0002c0022 a0002c0023 a0011c0021	a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0006 a0002c0022t0001 a0002c0023t0001 a0011c0021t0001	a0001c0001t0001g0045 a0001c0001t0001g0163 a0001c0001t0001g0215 others(33): Show a0001c0001t0001g0045 a0001c0001t0001g0163 a0001c0001t0001g0215 a0001c0001t0001g0216 a0002c0002t0001g0017 a0002c0002t0001g0021 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0006g0179 a0002c0022t0001g0160 a0002c0023t0001g0190 a0011c0021t0001g0174	36	268	0.1343	-11	c.169 others(28): Show c.1696+337_1696+347delTTTTTTTTTTT	CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	13/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES1_chr18_23130485_23265470	23156156	CTCCATGG others(4): Show CTCCATGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0126 a0001c0001t0019g0126	1	278	0.0036	-11	c.845 others(30): Show c.845+19553_845+19563delATGGAGGGTCC	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES2_chr20_62383634_62412285	62398201	GGTGATGG others(4): Show GGTGATGGTGAT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0180 a0001c0001t0013g0180	1	400	0.0025	-11	c.363 others(28): Show c.363-1620_363-1610delATCACCATCAC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP1_chr12_120635626_120672324	120667547	GGCGTGAT others(4): Show GGCGTGATCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	418	0.0024	-11	c.64 others(20): Show c.648_*658delGCGTGATCTCA	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		224		chr12	TogoVar
CABP1_chr12_120635626_120672324	120672281	ACTGGGAA others(4): Show ACTGGGAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	418	0.0024	-11	c.53 others(22): Show c.5382_*5392delCTGGGAAAAAC	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		4958		chr12	TogoVar
CABP5_chr19_48024383_48049079	48039703	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0246 a0001c0001t0047g0246	1	376	0.0027	-11	c.239 others(26): Show c.239-397_239-387delAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	3/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48046973	CCTTTTTT others(4): Show CCTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02886.hp2 HG02895.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0009 a0005c0008t0010 a0005c0008t0009 a0005c0008t0010	a0005c0008t0009g0290 a0005c0008t0010g0289 a0005c0008t0009g0290 a0005c0008t0010g0289	2	376	0.0053	-11	c.-30 others(22): Show c.-3062_-3052delAAAAAAAAAAG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		2895		chr19	TogoVar
CACHD1_chr1_64465129_64698053	64643036	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0121 a0001c0004t0012g0121	1	166	0.0060	-11	c.115 others(30): Show c.1156+1092_1156+1102delAAAAAAAAAAA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13213672	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG02602.hp2 others(2): Show HG01070.hp1 HG01070.hp2 HG02602.hp2 NA18946.hp2 NA18955.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0014	a0001c0018 a0002c0003 a0005c0066 others(2): Show a0001c0018 a0002c0003 a0005c0066 a0009c0076 a0014c0048	a0001c0018t0001 a0002c0003t0003 a0005c0066t0001 others(2): Show a0001c0018t0001 a0002c0003t0003 a0005c0066t0001 a0009c0076t0002 a0014c0048t0001	a0001c0018t0001g0056 a0002c0003t0003g0127 a0005c0066t0001g0034 others(2): Show a0001c0018t0001g0056 a0002c0003t0003g0127 a0005c0066t0001g0034 a0009c0076t0002g0108 a0014c0048t0001g0146	5	218	0.0229	-11	c.594 others(28): Show c.5940+550_5940+560delAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	40/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13234350	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0027 a0003c0013t0027	a0003c0013t0027g0149 a0003c0013t0027g0149	1	218	0.0046	-11	c.524 others(28): Show c.5249+560_5249+570delTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	34/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13239106	TCGCGCCT others(4): Show TCGCGCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01167.hp1 others(16): Show HG00639.hp1 HG00738.hp1 HG01167.hp1 HG01192.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02293.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG03130.hp1 HG03471.hp2 NA18964.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0016 a0033 a0036	a0001c0001 a0001c0004 a0001c0006 others(12): Show a0001c0001 a0001c0004 a0001c0006 a0001c0034 a0002c0003 a0003c0013 a0003c0015 a0003c0056 a0004c0123 a0005c0024 a0010c0107 a0011c0025 a0016c0028 a0033c0088 a0036c0052	a0001c0001t0001 a0001c0004t0001 a0001c0006t0005 others(15): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0005 a0001c0006t0008 a0001c0034t0001 a0002c0003t0002 a0003c0013t0018 a0003c0015t0002 a0003c0015t0008 a0003c0015t0035 a0003c0056t0003 a0004c0123t0009 a0005c0024t0008 a0010c0107t0021 a0011c0025t0001 a0016c0028t0007 a0033c0088t0001 a0036c0052t0006	a0001c0001t0001g0182 a0001c0004t0001g0080 a0001c0006t0005g0110 others(16): Show a0001c0001t0001g0182 a0001c0004t0001g0080 a0001c0006t0005g0110 a0001c0006t0008g0217 a0001c0034t0001g0072 a0002c0003t0002g0113 a0003c0013t0018g0063 a0003c0015t0002g0167 a0003c0015t0008g0036 a0003c0015t0035g0119 a0003c0056t0003g0057 a0004c0123t0009g0077 a0005c0024t0008g0214 a0010c0107t0021g0004 a0011c0025t0001g0093 a0016c0028t0007g0073 a0016c0028t0007g0084 a0033c0088t0001g0207 a0036c0052t0006g0154	19	218	0.0872	-11	c.495 others(30): Show c.4951-3387_4951-3377delGGGGAGGCGCG	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	31/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13269135	TACAGGTG others(4): Show TACAGGTGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(123): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18955.hp2 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0019 a0020 a0021 a0022 a0027 a0029 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0044	a0001c0001 a0001c0004 a0001c0005 others(70): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0020 a0001c0034 a0001c0037 a0001c0038 a0001c0058 a0001c0096 a0001c0099 a0001c0106 a0001c0126 a0002c0002 a0002c0003 a0002c0019 a0002c0032 a0002c0082 a0002c0085 a0002c0117 a0003c0013 a0003c0015 a0003c0035 a0003c0039 a0003c0054 a0003c0055 a0003c0056 a0003c0077 a0003c0084 a0003c0094 a0003c0108 a0003c0116 a0004c0007 a0004c0047 a0004c0123 a0005c0033 a0006c0011 a0006c0029 a0006c0121 a0007c0009 a0007c0075 a0007c0100 a0009c0014 a0009c0051 a0009c0076 a0010c0053 a0010c0083 a0010c0107 a0010c0128 a0011c0043 a0011c0103 a0012c0023 a0013c0027 a0013c0089 a0014c0111 a0016c0028 a0019c0109 a0020c0074 a0020c0078 a0021c0090 a0022c0095 a0027c0064 a0029c0063 a0032c0045 a0033c0088 a0034c0081 a0035c0057 a0036c0052 a0037c0087 a0038c0044 a0039c0068 a0040c0069 a0044c0112	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(96): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0015 a0001c0004t0032 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0010 a0001c0006t0001 a0001c0006t0005 a0001c0006t0008 a0001c0006t0009 a0001c0006t0029 a0001c0020t0001 a0001c0034t0001 a0001c0037t0004 a0001c0038t0007 a0001c0058t0004 a0001c0096t0025 a0001c0099t0012 a0001c0106t0001 a0001c0126t0022 a0002c0002t0002 a0002c0002t0003 a0002c0002t0015 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0019t0002 a0002c0019t0003 a0002c0032t0006 a0002c0082t0003 a0002c0085t0005 a0002c0117t0009 a0003c0013t0007 a0003c0013t0018 a0003c0013t0027 a0003c0015t0002 a0003c0015t0008 a0003c0015t0035 a0003c0035t0016 a0003c0035t0024 a0003c0039t0009 a0003c0054t0043 a0003c0055t0044 a0003c0056t0003 a0003c0077t0039 a0003c0084t0016 a0003c0094t0018 a0003c0108t0012 a0003c0116t0045 a0004c0007t0001 a0004c0007t0009 a0004c0007t0010 a0004c0047t0001 a0004c0123t0009 a0005c0033t0011 a0006c0011t0003 a0006c0029t0002 a0006c0029t0003 a0006c0121t0041 a0007c0009t0003 a0007c0009t0034 a0007c0009t0038 a0007c0075t0003 a0007c0100t0017 a0009c0014t0046 a0009c0051t0002 a0009c0076t0002 a0010c0053t0003 a0010c0083t0014 a0010c0107t0021 a0010c0128t0010 a0011c0043t0015 a0011c0103t0004 a0012c0023t0003 a0013c0027t0001 a0013c0089t0001 a0014c0111t0004 a0016c0028t0007 a0019c0109t0005 a0020c0074t0012 a0020c0078t0019 a0021c0090t0007 a0022c0095t0003 a0027c0064t0004 a0029c0063t0002 a0032c0045t0005 a0033c0088t0001 a0034c0081t0019 a0035c0057t0020 a0036c0052t0006 a0037c0087t0001 a0038c0044t0005 a0039c0068t0001 a0040c0069t0014 a0044c0112t0012	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(123): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0155 a0001c0001t0004g0218 a0001c0001t0005g0168 a0001c0004t0001g0018 a0001c0004t0001g0078 a0001c0004t0001g0097 a0001c0004t0001g0199 a0001c0004t0015g0140 a0001c0004t0032g0081 a0001c0005t0001g0187 a0001c0005t0004g0201 a0001c0005t0005g0028 a0001c0005t0005g0135 a0001c0005t0010g0202 a0001c0006t0001g0032 a0001c0006t0005g0110 a0001c0006t0008g0148 a0001c0006t0008g0217 a0001c0006t0009g0189 a0001c0006t0029g0136 a0001c0020t0001g0051 a0001c0020t0001g0188 a0001c0034t0001g0068 a0001c0034t0001g0072 a0001c0037t0004g0021 a0001c0038t0007g0205 a0001c0058t0004g0083 a0001c0096t0025g0003 a0001c0099t0012g0029 a0001c0106t0001g0121 a0001c0126t0022g0006 a0002c0002t0002g0020 a0002c0002t0002g0094 a0002c0002t0003g0181 a0002c0002t0015g0160 a0002c0003t0002g0053 a0002c0003t0002g0113 a0002c0003t0002g0126 a0002c0003t0003g0127 a0002c0003t0003g0166 a0002c0003t0007g0086 a0002c0019t0002g0185 a0002c0019t0003g0009 a0002c0032t0006g0087 a0002c0082t0003g0058 a0002c0085t0005g0085 a0002c0117t0009g0079 a0003c0013t0007g0041 a0003c0013t0018g0063 a0003c0013t0027g0149 a0003c0015t0002g0167 a0003c0015t0008g0036 a0003c0015t0035g0119 a0003c0035t0016g0076 a0003c0035t0024g0005 a0003c0039t0009g0075 a0003c0054t0043g0060 a0003c0055t0044g0071 a0003c0056t0003g0057 a0003c0077t0039g0022 a0003c0084t0016g0145 a0003c0094t0018g0208 a0003c0108t0012g0211 a0003c0116t0045g0111 a0004c0007t0001g0049 a0004c0007t0001g0114 a0004c0007t0009g0147 a0004c0007t0010g0062 a0004c0047t0001g0178 a0004c0123t0009g0077 a0005c0033t0011g0010 a0005c0033t0011g0170 a0006c0011t0003g0070 a0006c0029t0002g0197 a0006c0029t0003g0169 a0006c0121t0041g0042 a0007c0009t0003g0069 a0007c0009t0034g0163 a0007c0009t0038g0153 a0007c0075t0003g0190 a0007c0100t0017g0039 a0009c0014t0046g0176 a0009c0051t0002g0184 a0009c0076t0002g0108 a0010c0053t0003g0186 a0010c0083t0014g0159 a0010c0107t0021g0004 a0010c0128t0010g0139 a0011c0043t0015g0043 a0011c0103t0004g0200 a0012c0023t0003g0164 a0012c0023t0003g0180 a0013c0027t0001g0118 a0013c0027t0001g0179 a0013c0089t0001g0143 a0014c0111t0004g0210 a0016c0028t0007g0073 a0016c0028t0007g0084 a0019c0109t0005g0198 a0020c0074t0012g0161 a0020c0078t0019g0151 a0021c0090t0007g0162 a0022c0095t0003g0183 a0027c0064t0004g0101 a0029c0063t0002g0196 a0032c0045t0005g0191 a0033c0088t0001g0207 a0034c0081t0019g0152 a0035c0057t0020g0002 a0036c0052t0006g0154 a0037c0087t0001g0103 a0038c0044t0005g0175 a0039c0068t0001g0171 a0040c0069t0014g0040 a0044c0112t0012g0206	126	218	0.5780	-11	c.399 others(30): Show c.3990-6313_3990-6303delCTCTCACCTGT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	24/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13285952	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0136 a0001c0006t0029g0136	1	218	0.0046	-11	c.355 others(28): Show c.3553+540_3553+550delAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	20/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310454	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03471.hp1 NA18975.hp1 others(1): Show HG01978.hp1 HG03471.hp1 NA18975.hp1 NA20752.hp1	a0002 a0005 a0011 others(1): Show a0002 a0005 a0011 a0028	a0002c0070 a0005c0022 a0011c0103 others(1): Show a0002c0070 a0005c0022 a0011c0103 a0028c0119	a0002c0070t0007 a0005c0022t0004 a0011c0103t0004 others(1): Show a0002c0070t0007 a0005c0022t0004 a0011c0103t0004 a0028c0119t0026	a0002c0070t0007g0102 a0005c0022t0004g0092 a0011c0103t0004g0200 others(1): Show a0002c0070t0007g0102 a0005c0022t0004g0092 a0011c0103t0004g0200 a0028c0119t0026g0131	4	218	0.0184	-11	c.166 others(30): Show c.1669-1937_1669-1927delTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346651	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0010 a0010	a0010c0083 a0010c0083	a0010c0083t0014 a0010c0083t0014	a0010c0083t0014g0159 a0010c0083t0014g0159	1	218	0.0046	-11	c.979 others(30): Show c.979-10753_979-10743delTATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346655	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 NA18944.hp1 HG02572.hp1 HG02723.hp2 NA18944.hp1	a0001 a0003 a0001 a0003	a0001c0031 a0001c0071 a0003c0046 a0001c0031 a0001c0071 a0003c0046	a0001c0031t0036 a0001c0071t0013 a0003c0046t0003 a0001c0031t0036 a0001c0071t0013 a0003c0046t0003	a0001c0031t0036g0215 a0001c0071t0013g0138 a0003c0046t0003g0116 a0001c0031t0036g0215 a0001c0071t0013g0138 a0003c0046t0003g0116	3	218	0.0138	-11	c.979 others(30): Show c.979-10757_979-10747delTATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346656	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0013 a0001c0031t0013	a0001c0031t0013g0123 a0001c0031t0013g0123	1	218	0.0046	-11	c.979 others(30): Show c.979-10758_979-10748delATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13410533	CTTTTTTC others(4): Show CTTTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	218	0.0046	-11	c.540 others(30): Show c.540-38765_540-38755delAAAAGAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13490681	AGAGAAAG others(4): Show AGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02970.hp1 others(2): Show HG02572.hp2 HG02809.hp2 HG02970.hp1 HG03139.hp2 NA20300.hp1	a0002 a0003 a0014 others(1): Show a0002 a0003 a0014 a0016	a0002c0117 a0003c0039 a0003c0094 others(2): Show a0002c0117 a0003c0039 a0003c0094 a0014c0111 a0016c0028	a0002c0117t0009 a0003c0039t0009 a0003c0094t0018 others(2): Show a0002c0117t0009 a0003c0039t0009 a0003c0094t0018 a0014c0111t0004 a0016c0028t0007	a0002c0117t0009g0079 a0003c0039t0009g0075 a0003c0094t0018g0208 others(2): Show a0002c0117t0009g0079 a0003c0039t0009g0075 a0003c0094t0018g0208 a0014c0111t0004g0210 a0016c0028t0007g0073	5	218	0.0229	-11	c.293 others(30): Show c.293+15240_293+15250delCTTTCTTTCTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(4): Show AAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0041 a0041	a0041c0067 a0041c0067	a0041c0067t0002 a0041c0067t0002	a0041c0067t0002g0172 a0041c0067t0002g0172	1	218	0.0046	-11	c.293 others(28): Show c.293+8401_293+8411delATATATATATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497522	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp1 NA18980.hp2 HG02055.hp1 HG03225.hp1 NA18980.hp2	a0001 a0006 a0043 a0001 a0006 a0043	a0001c0126 a0006c0011 a0043c0091 a0001c0126 a0006c0011 a0043c0091	a0001c0126t0022 a0006c0011t0003 a0043c0091t0005 a0001c0126t0022 a0006c0011t0003 a0043c0091t0005	a0001c0126t0022g0006 a0006c0011t0003g0070 a0043c0091t0005g0027 a0001c0126t0022g0006 a0006c0011t0003g0070 a0043c0091t0005g0027	3	218	0.0138	-11	c.293 others(28): Show c.293+8399_293+8409delATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137954697	GCCTGGTC others(4): Show GCCTGGTCACCT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0011 a0005c0024t0011	a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0024t0011g0160 a0005c0024t0011g0162	2	248	0.0081	-11	c.107 others(29): Show c.1071-1000_1071-990delCCTGGTCACCT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	7/46			chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138003778	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG03453.hp2 HG01891.hp2 HG02622.hp1 HG03453.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0007 a0007c0016t0007	a0007c0016t0007g0054 a0007c0016t0007g0062 a0007c0016t0007g0205 a0007c0016t0007g0054 a0007c0016t0007g0062 a0007c0016t0007g0205	3	248	0.0121	-11	c.197 others(30): Show c.1975-2975_1975-2965delTTTTTTTTTTT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	15/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138107255	TTTATTTA others(4): Show TTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20752.hp2 HG02486.hp2 NA20752.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0011 a0005c0024t0011	a0005c0024t0011g0160 a0005c0024t0011g0162 a0005c0024t0011g0160 a0005c0024t0011g0162	2	248	0.0081	-11	c.542 others(30): Show c.5428+1450_5428+1460delTATTTATTTAT	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	39/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2232242	TTTTTTTT others(4): Show TTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04115.hp2 HG03239.hp1 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0010 a0001c0006 a0001c0010	a0001c0006t0003 a0001c0010t0008 a0001c0006t0003 a0001c0010t0008	a0001c0006t0003g0069 a0001c0010t0008g0064 a0001c0006t0003g0069 a0001c0010t0008g0064	2	104	0.0192	-11	c.477 others(32): Show c.477+111816_477+111826delTTTTTTTGTTT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	104	0.0096	-11	c.139 others(32): Show c.1391-14220_1391-14210delAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2696877	ATTGGCCA others(4): Show ATTGGCCAGGAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG03516.hp2 HG02257.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0045 a0001c0003t0037 a0001c0001t0045 a0001c0003t0037	a0001c0001t0045g0052 a0001c0003t0037g0003 a0001c0001t0045g0052 a0001c0003t0037g0003	2	104	0.0192	-11	c.56 others(22): Show c.5679_*5689delTTGGCCAGGAG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	47/47	5679		chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520894	CTTTTCTT others(4): Show CTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01175.hp1 others(4): Show HG00642.hp2 HG01081.hp2 HG01175.hp1 HG01361.hp2 HG01928.hp2 HG01978.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0003t0008 a0001c0004t0004 others(4): Show a0001c0001t0001 a0001c0003t0008 a0001c0004t0004 a0001c0004t0011 a0001c0004t0039 a0001c0005t0062 a0001c0008t0035	a0001c0001t0001g0136 a0001c0003t0008g0073 a0001c0004t0004g0147 others(4): Show a0001c0001t0001g0136 a0001c0003t0008g0073 a0001c0004t0004g0147 a0001c0004t0011g0170 a0001c0004t0039g0028 a0001c0005t0062g0148 a0001c0008t0035g0010	7	210	0.0333	-11	c.483 others(30): Show c.483+19178_483+19188delTCTTTTCTTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53632757	GAGAGATG others(4): Show GAGAGATGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 NA19240.hp1 others(1): Show HG02486.hp2 HG02723.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0009 a0001c0023 a0001c0009 a0001c0023	a0001c0009t0029 a0001c0009t0056 a0001c0009t0076 others(1): Show a0001c0009t0029 a0001c0009t0056 a0001c0009t0076 a0001c0023t0077	a0001c0009t0029g0185 a0001c0009t0056g0184 a0001c0009t0076g0032 others(1): Show a0001c0009t0029g0185 a0001c0009t0056g0184 a0001c0009t0076g0032 a0001c0023t0077g0200	4	210	0.0191	-11	c.484 others(30): Show c.484-18020_484-18010delGAGATGGAGAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53679270	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18962.hp1 HG02071.hp2 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0004t0002 a0001c0002t0005 a0001c0004t0002	a0001c0002t0005g0123 a0001c0004t0002g0047 a0001c0002t0005g0123 a0001c0004t0002g0047	2	210	0.0095	-11	c.122 others(30): Show c.1220+5481_1220+5491delAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02922.hp2 HG02280.hp2 HG02615.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0001c0025 a0002c0016 a0001c0024 a0001c0025 a0002c0016	a0001c0024t0079 a0001c0025t0080 a0002c0016t0059 a0001c0024t0079 a0001c0025t0080 a0002c0016t0059	a0001c0024t0079g0040 a0001c0025t0080g0041 a0002c0016t0059g0208 a0001c0024t0079g0040 a0001c0025t0080g0041 a0002c0016t0059g0208	3	210	0.0143	-11	c.122 others(30): Show c.1220+8570_1220+8580delAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53684621	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(54): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01109.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02273.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02896.hp1 HG03017.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG04204.hp2 NA18906.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA19002.hp1 NA19002.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19070.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0003c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0033 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0057 a0001c0001t0073 a0001c0002t0005 a0001c0002t0007 a0001c0002t0018 a0001c0002t0030 a0001c0002t0053 a0001c0002t0064 a0001c0002t0082 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0011 a0001c0004t0012 a0001c0004t0014 a0001c0004t0024 a0001c0008t0007 a0001c0008t0009 a0001c0010t0002 a0003c0019t0001	a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0142 others(54): Show a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0002g0062 a0001c0001t0002g0091 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0003g0096 a0001c0001t0004g0160 a0001c0001t0004g0207 a0001c0001t0012g0166 a0001c0001t0012g0181 a0001c0001t0020g0075 a0001c0001t0020g0087 a0001c0001t0022g0056 a0001c0001t0024g0069 a0001c0001t0033g0018 a0001c0001t0033g0172 a0001c0001t0043g0083 a0001c0001t0045g0063 a0001c0001t0047g0066 a0001c0001t0057g0179 a0001c0001t0073g0203 a0001c0002t0005g0071 a0001c0002t0005g0097 a0001c0002t0005g0103 a0001c0002t0005g0105 a0001c0002t0005g0123 a0001c0002t0005g0124 a0001c0002t0007g0035 a0001c0002t0018g0029 a0001c0002t0030g0196 a0001c0002t0053g0159 a0001c0002t0064g0042 a0001c0002t0082g0024 a0001c0004t0001g0134 a0001c0004t0001g0154 a0001c0004t0001g0169 a0001c0004t0002g0050 a0001c0004t0002g0070 a0001c0004t0002g0078 a0001c0004t0002g0088 a0001c0004t0003g0079 a0001c0004t0004g0036 a0001c0004t0011g0170 a0001c0004t0012g0171 a0001c0004t0014g0023 a0001c0004t0024g0090 a0001c0008t0007g0017 a0001c0008t0009g0076 a0001c0010t0002g0092 a0003c0019t0001g0016	57	210	0.2714	-11	c.122 others(32): Show c.1220+10818_1220+10828delAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181537095	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show HG00408.hp1 HG00741.hp1 HG01358.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG02135.hp1 HG02273.hp2 HG02451.hp1 HG02602.hp1 HG02965.hp2 HG03225.hp2 HG03471.hp1 HG03492.hp2 HG03834.hp1 HG04115.hp1 NA18942.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA19057.hp1 NA19084.hp2 NA19085.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0012 others(3): Show a0001c0001 a0001c0004 a0001c0012 a0001c0020 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(17): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0043 a0001c0001t0052 a0001c0001t0064 a0001c0001t0066 a0001c0004t0004 a0001c0012t0038 a0001c0020t0031 a0002c0002t0002 a0002c0002t0003 a0002c0002t0034 a0003c0003t0001 a0003c0003t0005 a0003c0003t0014 a0003c0003t0023	a0001c0001t0003g0130 a0001c0001t0005g0086 a0001c0001t0006g0050 others(22): Show a0001c0001t0003g0130 a0001c0001t0005g0086 a0001c0001t0006g0050 a0001c0001t0006g0075 a0001c0001t0006g0131 a0001c0001t0009g0085 a0001c0001t0011g0092 a0001c0001t0016g0181 a0001c0001t0043g0077 a0001c0001t0052g0081 a0001c0001t0064g0013 a0001c0001t0066g0070 a0001c0004t0004g0137 a0001c0012t0038g0002 a0001c0020t0031g0074 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0003g0084 a0002c0002t0034g0080 a0003c0003t0001g0033 a0003c0003t0001g0076 a0003c0003t0005g0083 a0003c0003t0014g0082 a0003c0003t0023g0182	25	206	0.1214	-11	c.512 others(30): Show c.512+25596_512+25606delTTTTTTTTTTT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181579889	AAGAACTG others(4): Show AAGAACTGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0020 a0011c0017t0001g0020	1	206	0.0049	-11	c.769 others(26): Show c.769+668_769+678delAACTGAGGGAG	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr1	TogoVar

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