Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
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	a0001c0001t0001g0028 a0001c0001t0001g0028	1	289	0.0035	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	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0050 a0001c0016t0001g0050	1	207	0.0048	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	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0378 a0004c0007t0001g0378	1	406	0.0025	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	a0001c0002t0001g0247 a0001c0002t0001g0247	1	107	0.0093	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 a0001c0003t0046 a0001c0003t0006 a0001c0003t0046	a0001c0003t0006g0153 a0001c0003t0046g0154 a0001c0003t0006g0153 a0001c0003t0046g0154	2	145	0.0138	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	a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0094 a0001c0001t0001g0097	2	18	0.1111	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	174	0.0460	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	321	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	252	0.0119	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	150	0.0133	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	149	0.0067	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 a0001c0001t0002g0277 a0001c0001t0001g0310 a0001c0001t0002g0277	2	150	0.0133	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	252	0.0278	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	a0001c0001t0001g0083 a0001c0001t0001g0083	1	161	0.0062	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	a0001c0001t0001g0002 a0001c0002t0002g0024 a0001c0002t0002g0026 others(3): Show a0001c0001t0001g0002 a0001c0002t0002g0024 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0006g0020	7	119	0.0588	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	a0001c0001t0001g0265 a0001c0001t0001g0265	1	416	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	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0135 a0003c0004t0004g0135	1	365	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 a0024	a0002c0019 a0009c0051 a0010c0053 others(1): Show a0002c0019 a0009c0051 a0010c0053 a0024c0095	a0002c0019t0002 a0009c0051t0002 a0010c0053t0002 others(1): Show a0002c0019t0002 a0009c0051t0002 a0010c0053t0002 a0024c0095t0002	a0002c0019t0002g0188 a0009c0051t0002g0177 a0010c0053t0002g0190 others(1): Show a0002c0019t0002g0188 a0009c0051t0002g0177 a0010c0053t0002g0190 a0024c0095t0002g0191	4	75	0.0533	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	a0001c0001t0001g0117 a0001c0001t0001g0117	1	194	0.0052	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	a0019 a0023 a0019 a0023	a0019c0092 a0023c0042 a0019c0092 a0023c0042	a0019c0092t0002 a0023c0042t0001 a0019c0092t0002 a0023c0042t0001	a0019c0092t0002g0203 a0023c0042t0001g0092 a0019c0092t0002g0203 a0023c0042t0001g0092	2	163	0.0123	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	a0026 a0026	a0026c0041 a0026c0041	a0026c0041t0001 a0026c0041t0001	a0026c0041t0001g0107 a0026c0041t0001g0107	1	122	0.0082	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	a0027 a0027	a0027c0067 a0027c0067	a0027c0067t0002 a0027c0067t0002	a0027c0067t0002g0172 a0027c0067t0002g0172	1	80	0.0125	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 a0007 a0004 a0007	a0004c0047 a0007c0008 a0004c0047 a0007c0008	a0004c0047t0001 a0007c0008t0002 a0004c0047t0001 a0007c0008t0002	a0004c0047t0001g0178 a0007c0008t0002g0125 a0004c0047t0001g0178 a0007c0008t0002g0125	2	81	0.0247	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 a0031 a0003 a0031	a0003c0084 a0031c0059 a0003c0084 a0031c0059	a0003c0084t0002 a0031c0059t0007 a0003c0084t0002 a0031c0059t0007	a0003c0084t0002g0141 a0031c0059t0007g0001 a0003c0084t0002g0141 a0031c0059t0007g0001	2	68	0.0294	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 a0019 others(1): Show a0002 a0009 a0019 a0021	a0002c0082 a0009c0014 a0019c0092 others(1): Show a0002c0082 a0009c0014 a0019c0092 a0021c0028	a0002c0082t0002 a0009c0014t0002 a0019c0092t0002 others(1): Show a0002c0082t0002 a0009c0014t0002 a0019c0092t0002 a0021c0028t0002	a0002c0082t0002g0060 a0009c0014t0002g0048 a0009c0014t0002g0195 others(2): Show a0002c0082t0002g0060 a0009c0014t0002g0048 a0009c0014t0002g0195 a0019c0092t0002g0203 a0021c0028t0002g0084	5	34	0.1471	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 a0006 a0011 a0014	a0001c0005 a0001c0034 a0002c0114 others(5): Show a0001c0005 a0001c0034 a0002c0114 a0004c0080 a0006c0009 a0006c0118 a0011c0025 a0014c0089	a0001c0005t0001 a0001c0034t0001 a0002c0114t0002 others(5): Show a0001c0005t0001 a0001c0034t0001 a0002c0114t0002 a0004c0080t0001 a0006c0009t0017 a0006c0118t0002 a0011c0025t0001 a0014c0089t0001	a0001c0005t0001g0020 a0001c0034t0001g0052 a0002c0114t0002g0189 others(5): Show a0001c0005t0001g0020 a0001c0034t0001g0052 a0002c0114t0002g0189 a0004c0080t0001g0128 a0006c0009t0017g0163 a0006c0118t0002g0063 a0011c0025t0001g0093 a0014c0089t0001g0144	8	23	0.3478	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	a0001c0072t0003 a0001c0072t0003	a0001c0072t0003g0212 a0001c0072t0003g0212	1	211	0.0047	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 a0015 a0016 a0001 a0015 a0016	a0001c0005 a0001c0009 a0001c0013 others(4): Show a0001c0005 a0001c0009 a0001c0013 a0001c0015 a0001c0047 a0015c0031 a0016c0030	a0001c0005t0004 a0001c0009t0003 a0001c0013t0009 others(5): Show a0001c0005t0004 a0001c0009t0003 a0001c0013t0009 a0001c0015t0002 a0001c0015t0009 a0001c0047t0002 a0015c0031t0002 a0016c0030t0003	a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0086 others(22): Show a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0086 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0092 a0001c0005t0004g0093 a0001c0005t0004g0094 a0001c0005t0004g0095 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0009t0003g0022 a0001c0009t0003g0084 a0001c0009t0003g0085 a0001c0009t0003g0087 a0001c0009t0003g0091 a0001c0009t0003g0096 a0001c0013t0009g0099 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0001c0047t0002g0100 a0015c0031t0002g0113 a0016c0030t0003g0097	25	246	0.1016	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 a0004c0053 a0004c0025 a0004c0029 a0004c0053	a0004c0025t0013 a0004c0025t0022 a0004c0029t0036 others(1): Show a0004c0025t0013 a0004c0025t0022 a0004c0029t0036 a0004c0053t0022	a0004c0025t0013g0211 a0004c0025t0022g0011 a0004c0029t0036g0199 others(1): Show a0004c0025t0013g0211 a0004c0025t0022g0011 a0004c0029t0036g0199 a0004c0053t0022g0010	4	246	0.0163	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 a0001c0002t0003g0061 a0001c0004t0010g0025 others(1): Show a0001c0001t0005g0097 a0001c0002t0003g0061 a0001c0004t0010g0025 a0001c0021t0027g0087	4	85	0.0471	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	74	0.0541	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	a0001c0002t0001g0022 a0001c0002t0001g0022	1	32	0.0313	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 a0001c0002t0017 a0001c0003t0003 others(3): Show a0001c0001t0002 a0001c0002t0017 a0001c0003t0003 a0001c0004t0002 a0001c0005t0061 a0001c0022t0001	a0001c0001t0002g0061 a0001c0002t0017g0129 a0001c0003t0003g0053 others(3): Show a0001c0001t0002g0061 a0001c0002t0017g0129 a0001c0003t0003g0053 a0001c0004t0002g0047 a0001c0005t0061g0148 a0001c0022t0001g0165	6	19	0.3158	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	63	0.0317	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 a0011 a0001 a0011	a0001c0001 a0011c0028 a0001c0001 a0011c0028	a0001c0001t0002 a0011c0028t0068 a0001c0001t0002 a0011c0028t0068	a0001c0001t0002g0195 a0011c0028t0068g0055 a0001c0001t0002g0195 a0011c0028t0068g0055	2	187	0.0107	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	114	0.0088	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	204	0.0147	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	179	0.0112	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	142	0.0211	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	38	0.0789	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	125	0.0080	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	141	0.0071	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	85	0.0235	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	9	0.1111	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	74	0.0270	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 a0001c0002t0001g0024 a0001c0003t0001g0026 others(1): Show a0001c0001t0003g0016 a0001c0002t0001g0024 a0001c0003t0001g0026 a0001c0004t0008g0025	4	46	0.0870	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 a0001c0001t0027g0188 a0001c0001t0017g0089 a0001c0001t0027g0188	2	208	0.0096	19	c.11 others(30): Show c.1199_*1200insCGCTCTGTGCACACACACA	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	38/38	1199		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54171136	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0010 a0001c0038t0010	a0001c0038t0010g0059 a0001c0038t0010g0059	1	16	0.0625	19	c.204 others(38): Show c.204+47546_204+47564dupTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54350968	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0008 a0001c0004t0002g0008	1	92	0.0109	19	c.321 others(38): Show c.321+30423_321+30424insTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54554870	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 HG02622.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0061 a0001c0004t0001g0022 a0001c0001t0001g0061 a0001c0004t0001g0022	2	11	0.1818	19	c.545 others(36): Show c.545-7927_545-7909dupTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results