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
CA10_chr17_51625320_52163714	52119242	A A	ATTCATGA others(12): Show ATTCATGACTTATGGCAGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp1 HG01106.hp2 others(22): Show HG00544.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01361.hp2 HG02145.hp2 HG02273.hp2 HG02451.hp2 HG02615.hp2 HG02886.hp1 HG03130.hp1 HG03239.hp2 HG03492.hp2 HG04228.hp1 NA18950.hp1 NA18951.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18982.hp1 NA19010.hp1 NA19062.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0132 a0001c0001t0001g0149 others(22): Show a0001c0001t0001g0042 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0002g0033 a0001c0001t0002g0087 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0003g0063 a0001c0001t0009g0130 a0001c0002t0001g0030 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0070 a0001c0002t0001g0095 a0001c0002t0001g0117 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131	25	156	0.1603	19	c.61+ others(36): Show c.61+38483_61+38484insCACTGCCATAAGTCATGAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA12_chr15_63316378_63386846	63376599	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0135 a0001c0003t0024g0135	1	356	0.0028	19	c.86- others(32): Show c.86-922_86-921insGAAAGAAAGAAAGAAAGAA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA4_chr17_60144973_60164546	60145745	A A	AGACAGCG others(12): Show AGACAGCGGAGAATCTGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	380	0.0026	19	c.-42 others(30): Show c.-4290_-4289insGACAGCGGAGAATCTGCGG	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding		4227		chr17	TogoVar
CA5A_chr16_87883013_87941529	87940803	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	400	0.0025	19	c.-43 others(30): Show c.-4354_-4353insAAAAAAAAAAAAAAAAAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		4275		chr16	TogoVar
CA6_chr1_8940868_8980092	8959931	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0123 a0002c0016t0001g0123	1	452	0.0022	19	c.501 others(34): Show c.501+930_501+948dupAAAAAAAAAAAAAAAAAAA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973773	T T	TCTTTCTT others(12): Show TCTTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0327 a0004c0008t0001g0327	1	452	0.0022	19	c.845 others(34): Show c.845-849_845-848insCTTTCTTTCTTTTTCTTTC	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7			chr1	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	452	0.0022	19	c.29 others(30): Show c.2996_*2997insAAGAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CA8_chr8_60180412_60286400	60219929	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18906.hp2 HG02145.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0026 a0001c0003t0006 a0001c0003t0026	a0001c0003t0006g0032 a0001c0003t0026g0033 a0001c0003t0006g0032 a0001c0003t0026g0033	2	344	0.0058	19	c.738 others(36): Show c.738+2701_738+2719dupTTTTTTTTTTTTTTTTTTT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	7/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26847198	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02040.hp1 HG00408.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0091 a0001c0001t0001g0094	2	372	0.0054	19	c.740 others(36): Show c.740-4570_740-4552dupAAAAAAAAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(12): Show TATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01975.hp2 HG02056.hp2 others(5): Show HG01256.hp2 HG01975.hp2 HG02056.hp2 HG02148.hp1 HG02258.hp1 HG02647.hp1 HG02738.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0004g0100 others(5): Show a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0002t0001g0097 a0001c0002t0003g0039 a0001c0002t0004g0207	8	324	0.0247	19	c.565 others(36): Show c.565-1883_565-1882insGATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49442815	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	324	0.0031	19	c.-24 others(38): Show c.-246+1170_-246+1171insGTTTTTTTTTTTTTTTTTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748829	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19003.hp1 NA19068.hp1 NA19002.hp1 NA19003.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0028 a0001c0001t0002 a0001c0001t0014 a0001c0001t0028	a0001c0001t0002g0299 a0001c0001t0014g0151 a0001c0001t0028g0154 a0001c0001t0002g0299 a0001c0001t0014g0151 a0001c0001t0028g0154	3	342	0.0088	19	c.-43 others(38): Show c.-43-11130_-43-11129insTATATATATATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18973.hp2 HG01993.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0252 a0001c0001t0002g0245 a0001c0001t0002g0252	2	342	0.0059	19	c.-43 others(38): Show c.-43-11127_-43-11126insAAAAATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	342	0.0029	19	c.-43 others(38): Show c.-43-11127_-43-11126insATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19091.hp1 NA19066.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0310 a0001c0001t0002g0278 a0001c0001t0001g0310 a0001c0001t0002g0278	2	342	0.0059	19	c.-43 others(38): Show c.-43-11128_-43-11127insTATATATATATATATATAT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18951.hp1 NA18971.hp1 others(4): Show NA18947.hp1 NA18951.hp1 NA18971.hp1 NA19003.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016	a0001c0001t0003g0186 a0001c0001t0003g0210 a0001c0001t0003g0219 others(4): Show a0001c0001t0003g0186 a0001c0001t0003g0210 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0230 a0001c0001t0006g0217 a0001c0001t0016g0187	7	342	0.0205	19	c.115 others(36): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61669020	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	374	0.0027	19	c.61- others(34): Show c.61-3599_61-3598insAAAAAAAAAAAAAAAAAAA	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61720917	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01515.hp2 others(4): Show HG00323.hp1 HG01081.hp1 HG01515.hp2 HG01517.hp1 HG03225.hp2 HG03453.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0001t0001 a0001c0002t0002 a0001c0002t0006	a0001c0001t0001g0001 a0001c0002t0002g0017 a0001c0002t0002g0019 others(3): Show a0001c0001t0001g0001 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0006g0013	7	374	0.0187	19	c.552 others(38): Show c.552+30303_552+30321dupTTTTTTTTTTTTTTTTTTT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABP1_chr12_120635626_120672324	120668730	G G	GTTTCTAT others(12): Show GTTTCTATAAGTGAAGTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	418	0.0024	19	c.18 others(30): Show c.1830_*1831insTTTCTATAAGTGAAGTCTT	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding		1407		chr12	TogoVar
CABP5_chr19_48024383_48049079	48029837	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0068 a0003c0004t0068	a0003c0004t0068g0218 a0003c0004t0068g0218	1	376	0.0027	19	c.71 others(28): Show c.719_*720insCTCTCTCTCTCTCTCTCTC	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	6/6	719		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13294487	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp2 HG01261.hp1 others(1): Show HG01099.hp1 HG01255.hp2 HG01261.hp1 HG01952.hp1	a0002 a0009 a0010 others(1): Show a0002 a0009 a0010 a0022	a0002c0019 a0009c0051 a0010c0053 others(1): Show a0002c0019 a0009c0051 a0010c0053 a0022c0095	a0002c0019t0002 a0009c0051t0002 a0010c0053t0003 others(1): Show a0002c0019t0002 a0009c0051t0002 a0010c0053t0003 a0022c0095t0003	a0002c0019t0002g0185 a0009c0051t0002g0184 a0010c0053t0003g0186 others(1): Show a0002c0019t0002g0185 a0009c0051t0002g0184 a0010c0053t0003g0186 a0022c0095t0003g0183	4	218	0.0184	19	c.308 others(38): Show c.3089+4038_3089+4056dupAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	19/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310483	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	218	0.0046	19	c.166 others(38): Show c.1669-1956_1669-1955insATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310485	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02896.hp1 HG00140.hp1 HG02896.hp1	a0021 a0026 a0021 a0026	a0021c0092 a0026c0042 a0021c0092 a0026c0042	a0021c0092t0016 a0026c0042t0001 a0021c0092t0016 a0026c0042t0001	a0021c0092t0016g0203 a0026c0042t0001g0089 a0021c0092t0016g0203 a0026c0042t0001g0089	2	218	0.0092	19	c.166 others(38): Show c.1669-1958_1669-1957insATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0004 a0025c0041t0004	a0025c0041t0004g0107 a0025c0041t0004g0107	1	218	0.0046	19	c.166 others(38): Show c.1669-1960_1669-1959insATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0041 a0041	a0041c0067 a0041c0067	a0041c0067t0002 a0041c0067t0002	a0041c0067t0002g0172 a0041c0067t0002g0172	1	218	0.0046	19	c.166 others(38): Show c.1669-1962_1669-1961insATATATATATATATATTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG04228.hp2 HG02129.hp1 HG04228.hp2	a0004 a0008 a0004 a0008	a0004c0047 a0008c0008 a0004c0047 a0008c0008	a0004c0047t0001 a0008c0008t0002 a0004c0047t0001 a0008c0008t0002	a0004c0047t0001g0178 a0008c0008t0002g0125 a0004c0047t0001g0178 a0008c0008t0002g0125	2	218	0.0092	19	c.166 others(38): Show c.1669-1962_1669-1961insATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13318890	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18522.hp2 HG02258.hp2 NA18522.hp2	a0003 a0024 a0003 a0024	a0003c0084 a0024c0059 a0003c0084 a0024c0059	a0003c0084t0016 a0024c0059t0023 a0003c0084t0016 a0024c0059t0023	a0003c0084t0016g0145 a0024c0059t0023g0001 a0003c0084t0016g0145 a0024c0059t0023g0001	2	218	0.0092	19	c.134 others(38): Show c.1346-1570_1346-1569insAAAAAAAAAAAAAAAAAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	10/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13415743	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02896.hp1 HG03130.hp1 others(2): Show HG02698.hp1 HG02896.hp1 HG03130.hp1 HG03669.hp1 NA18995.hp2	a0002 a0009 a0016 others(1): Show a0002 a0009 a0016 a0021	a0002c0082 a0009c0014 a0016c0028 others(1): Show a0002c0082 a0009c0014 a0016c0028 a0021c0092	a0002c0082t0003 a0009c0014t0002 a0016c0028t0007 others(1): Show a0002c0082t0003 a0009c0014t0002 a0016c0028t0007 a0021c0092t0016	a0002c0082t0003g0058 a0009c0014t0002g0048 a0009c0014t0002g0195 others(2): Show a0002c0082t0003g0058 a0009c0014t0002g0048 a0009c0014t0002g0195 a0016c0028t0007g0084 a0021c0092t0016g0203	5	218	0.0229	19	c.539 others(38): Show c.539+37114_539+37132dupTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01261.hp2 others(5): Show HG00423.hp1 HG00544.hp1 HG01261.hp2 HG01516.hp1 HG02040.hp2 HG02895.hp2 HG03688.hp1 NA18973.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0011 a0013	a0001c0005 a0001c0034 a0002c0114 others(5): Show a0001c0005 a0001c0034 a0002c0114 a0004c0080 a0007c0009 a0007c0118 a0011c0025 a0013c0089	a0001c0005t0005 a0001c0034t0001 a0002c0114t0002 others(5): Show a0001c0005t0005 a0001c0034t0001 a0002c0114t0002 a0004c0080t0009 a0007c0009t0034 a0007c0118t0002 a0011c0025t0001 a0013c0089t0001	a0001c0005t0005g0028 a0001c0034t0001g0068 a0002c0114t0002g0192 others(5): Show a0001c0005t0005g0028 a0001c0034t0001g0068 a0002c0114t0002g0192 a0004c0080t0009g0129 a0007c0009t0034g0163 a0007c0118t0002g0052 a0011c0025t0001g0093 a0013c0089t0001g0143	8	218	0.0367	19	c.539 others(38): Show c.539+19397_539+19415dupTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13510060	A A	AGGGAGGT others(12): Show AGGGAGGTGGGAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0037 a0001c0072t0037	a0001c0072t0037g0213 a0001c0072t0037g0213	1	218	0.0046	19	c.-38 others(30): Show c.-3837_-3836insCCTCCCCCTCCCACCTCCC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3582		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	137875648	G G	GGCAGGAA others(12): Show GGCAGGAACAAGGGGAGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00673.hp1 others(22): Show HG00438.hp2 HG00597.hp1 HG00673.hp1 HG01943.hp1 HG02040.hp2 HG02074.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp2 NA18747.hp1 NA18955.hp1 NA18960.hp2 NA18980.hp1 NA18983.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19085.hp2	a0001 a0014 a0015 others(1): Show a0001 a0014 a0015 a0016	a0001c0005 a0001c0009 a0001c0013 others(4): Show a0001c0005 a0001c0009 a0001c0013 a0001c0015 a0014c0031 a0015c0049 a0016c0030	a0001c0005t0004 a0001c0009t0003 a0001c0013t0009 others(5): Show a0001c0005t0004 a0001c0009t0003 a0001c0013t0009 a0001c0015t0002 a0001c0015t0009 a0014c0031t0002 a0015c0049t0002 a0016c0030t0003	a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 others(22): Show a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0087 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0091 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0009t0003g0022 a0001c0009t0003g0092 a0001c0009t0003g0093 a0001c0009t0003g0094 a0001c0009t0003g0095 a0001c0009t0003g0096 a0001c0013t0009g0099 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0014c0031t0002g0113 a0015c0049t0002g0100 a0016c0030t0003g0097	25	248	0.1008	19	c.-22 others(30): Show c.-2286_-2285insGCAGGAACAAGGGGAGGAC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2133		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137996874	T T	TACAGATC others(12): Show TACAGATCACTTCTGCAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02615.hp2 others(1): Show HG01109.hp2 HG01884.hp1 HG02615.hp2 NA18522.hp1	a0004 a0004	a0004c0025 a0004c0029 a0004c0055 a0004c0025 a0004c0029 a0004c0055	a0004c0025t0013 a0004c0025t0022 a0004c0029t0036 others(1): Show a0004c0025t0013 a0004c0025t0022 a0004c0029t0036 a0004c0055t0022	a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0029t0036g0206 others(1): Show a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0029t0036g0206 a0004c0055t0022g0009	4	248	0.0161	19	c.197 others(38): Show c.1975-9875_1975-9874insCACAGATCACTTCTGCAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	15/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2177590	T T	TCCCTCCC others(12): Show TCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03017.hp1 HG03540.hp1 others(1): Show HG02055.hp2 HG03017.hp1 HG03540.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0021	a0001c0001t0005 a0001c0002t0003 a0001c0004t0010 others(1): Show a0001c0001t0005 a0001c0002t0003 a0001c0004t0010 a0001c0021t0027	a0001c0001t0005g0097 a0001c0002t0003g0056 a0001c0004t0010g0020 others(1): Show a0001c0001t0005g0097 a0001c0002t0003g0056 a0001c0004t0010g0020 a0001c0021t0027g0087	4	104	0.0385	19	c.477 others(38): Show c.477+57160_477+57161insCCCTCCCTCCCTCCCTCCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46			chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG03041.hp1 others(1): Show HG02809.hp1 HG02886.hp1 HG03041.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0018	a0001c0001t0005 a0001c0004t0004 a0001c0005t0010 others(1): Show a0001c0001t0005 a0001c0004t0004 a0001c0005t0010 a0001c0018t0042	a0001c0001t0005g0015 a0001c0004t0004g0086 a0001c0005t0010g0089 others(1): Show a0001c0001t0005g0015 a0001c0004t0004g0086 a0001c0005t0010g0089 a0001c0018t0042g0083	4	104	0.0385	19	c.478 others(38): Show c.478-68932_478-68931insAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2535704	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	104	0.0096	19	c.139 others(40): Show c.1391-14228_1391-14210dupAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(3): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG02071.hp2 HG02602.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0022	a0001c0001t0002 a0001c0002t0016 a0001c0003t0003 others(3): Show a0001c0001t0002 a0001c0002t0016 a0001c0003t0003 a0001c0004t0002 a0001c0005t0062 a0001c0022t0001	a0001c0001t0002g0061 a0001c0002t0016g0129 a0001c0003t0003g0053 others(3): Show a0001c0001t0002g0061 a0001c0002t0016g0129 a0001c0003t0003g0053 a0001c0004t0002g0047 a0001c0005t0062g0148 a0001c0022t0001g0165	6	210	0.0286	19	c.122 others(38): Show c.1220+8562_1220+8580dupAAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53810758	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18977.hp1 HG03669.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0007 a0001c0001t0002 a0001c0008t0007	a0001c0001t0002g0064 a0001c0008t0007g0017 a0001c0001t0002g0064 a0001c0008t0007g0017	2	210	0.0095	19	c.625 others(36): Show c.6253-345_6253-327dupAAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	48/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181590414	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp1 HG02451.hp2 HG03209.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0028 a0001c0001 a0008c0028	a0001c0001t0002 a0008c0028t0068 a0001c0001t0002 a0008c0028t0068	a0001c0001t0002g0195 a0008c0028t0068g0055 a0001c0001t0002g0195 a0008c0028t0068g0055	2	206	0.0097	19	c.951 others(36): Show c.951+9638_951+9639insTATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47			chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181590416	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0032 a0001c0005t0032	a0001c0005t0032g0099 a0001c0005t0032g0099	1	206	0.0049	19	c.951 others(36): Show c.951+9640_951+9641insTATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	6/47			chr1	TogoVar
CACNA1E_chr1_181478517_181813084	181662717	G G	GGGAAAGA others(12): Show GGGAAAGAGCCATTCTTACC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03710.hp2 NA20905.hp1 HG03669.hp2 HG03710.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0201 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0201 a0002c0002t0003g0202 a0002c0002t0003g0203	3	206	0.0146	19	c.105 others(40): Show c.1055+11277_1055+11295dupGGAAAGAGCCATTCTTACC	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1I_chr22_39565753_39694735	39596331	G G	GGAGATGG others(12): Show GGAGATGGGCAGGGCGGAGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03942.hp1 HG03704.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0123 a0001c0001t0003g0122 a0001c0001t0002g0123 a0001c0001t0003g0122	2	236	0.0085	19	c.237 others(36): Show c.237-1812_237-1811insCAGGGCGGAGAGAGATGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	81951967	G G	GTGTTTTT others(12): Show GTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02970.hp1 HG00642.hp1 HG01884.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0034 a0001c0001t0003g0062 a0001c0001t0005g0126 a0001c0001t0003g0034 a0001c0001t0003g0062 a0001c0001t0005g0126	3	144	0.0208	19	c.316 others(38): Show c.3160-1478_3160-1460dupAAAAAAAAAAAAAAAAACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81951969	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp1 HG03579.hp2 HG02809.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0003g0076 a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0003g0076	3	144	0.0208	19	c.316 others(38): Show c.3160-1480_3160-1462dupAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81951970	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	144	0.0069	19	c.316 others(38): Show c.3160-1463_3160-1462insCAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	81951976	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0069 a0001c0006t0013g0069	1	144	0.0069	19	c.316 others(38): Show c.3160-1469_3160-1468insCAAAAAACAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	38/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82140954	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG01884.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0062 a0001c0001t0007g0078 a0001c0001t0003g0062 a0001c0001t0007g0078	2	144	0.0139	19	c.355 others(36): Show c.355-4279_355-4278insTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82181041	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	144	0.0069	19	c.295 others(38): Show c.295-10451_295-10433dupAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82366903	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20752.hp1 NA18522.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0129 a0001c0001t0004g0021 a0001c0001t0002g0129 a0001c0001t0004g0021	2	144	0.0139	19	c.96- others(36): Show c.96-17273_96-17255dupAAAAAAAAAAAAAAAAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82432037	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG02818.hp1 others(1): Show HG02258.hp1 HG02717.hp1 HG02818.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0008	a0001c0001t0003g0016 a0001c0002t0001g0026 a0001c0003t0001g0025 others(1): Show a0001c0001t0003g0016 a0001c0002t0001g0026 a0001c0003t0001g0025 a0001c0004t0008g0024	4	144	0.0278	19	c.95+ others(36): Show c.95+11309_95+11327dupTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D2_chr3_50357613_50508634	50363466	C C	CTGTGTGT others(12): Show CTGTGTGTGTGCACAGAGCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 NA18945.hp2 HG02074.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0027 a0001c0001t0017 a0001c0001t0027	a0001c0001t0017g0089 a0001c0001t0027g0187 a0001c0001t0017g0089 a0001c0001t0027g0187	2	234	0.0086	19	c.11 others(30): Show c.1199_*1200insCGCTCTGTGCACACACACA	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	38/38	1199		chr3	TogoVar

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Search Results (Total: 10000 hits)