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
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	36	0.0278	26	c.62- others(45): Show c.62-294650_62-294649insATATATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85541773	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0035 a0001c0001t0018g0035	1	112	0.0089	26	c.62- others(45): Show c.62-184748_62-184747insATATATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543420	A A	ATGTGTGT others(19): Show ATGTGTGTGGGGGGGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	61	0.0164	26	c.62- others(45): Show c.62-183094_62-183093insGGGGGGTGTGTGTGTGTGTGTGTGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543420	A A	ATGTGTGT others(19): Show ATGTGTGTGGGGGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02293.hp2 others(3): Show HG01243.hp2 HG02257.hp2 HG02293.hp2 NA18952.hp2 NA18995.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0044	a0001c0001t0002g0017 a0001c0001t0003g0040 a0001c0001t0010g0020 others(3): Show a0001c0001t0002g0017 a0001c0001t0003g0040 a0001c0001t0010g0020 a0001c0001t0012g0057 a0001c0001t0020g0043 a0001c0001t0044g0041	6	66	0.0909	26	c.62- others(45): Show c.62-183094_62-183093insGGGGTGTGTGTGTGTGTGTGTGTGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543421	T T	TGTGTGTG others(19): Show TGTGTGTGGGGGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02129.hp1 HG02293.hp1 others(5): Show HG00280.hp1 HG02129.hp1 HG02293.hp1 HG03710.hp2 HG03834.hp2 NA18949.hp1 NA18977.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0028 a0001c0001t0045	a0001c0001t0001g0103 a0001c0001t0003g0068 a0001c0001t0003g0069 others(5): Show a0001c0001t0001g0103 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0085 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0028g0122 a0001c0001t0045g0134	8	146	0.0548	26	c.62- others(45): Show c.62-183094_62-183093insGGGGTGTGTGTGTGTGTGGGTGTGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568473	C C	CTCTCTTT others(19): Show CTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19030.hp2 HG03927.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0026 a0002c0005t0004 a0001c0003t0026 a0002c0005t0004	a0001c0003t0026g0015 a0002c0005t0004g0058 a0001c0003t0026g0015 a0002c0005t0004g0058	2	54	0.0370	26	c.62- others(45): Show c.62-158046_62-158045insCTTTCTTTCTTTCTTTCTTTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769163	A A	AGTATATA others(19): Show AGTATATATACACATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 NA20129.hp1 HG02559.hp1 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0141 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0141	3	145	0.0207	26	c.89- others(43): Show c.89-32883_89-32858dupGTATATATACACATATATACATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769489	A A	ATATATAC others(19): Show ATATATACATATATGTATATATACACG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02559.hp1 others(8): Show HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03579.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0006 a0001c0003t0024 others(1): Show a0001c0001t0008 a0001c0003t0006 a0001c0003t0024 a0001c0003t0042	a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0141 others(8): Show a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0141 a0001c0003t0006g0025 a0001c0003t0006g0027 a0001c0003t0006g0028 a0001c0003t0006g0030 a0001c0003t0006g0034 a0001c0003t0024g0004 a0001c0003t0024g0007 a0001c0003t0042g0109	11	86	0.1279	26	c.89- others(43): Show c.89-32492_89-32467dupGTATATATACACGTATATACATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898937	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	96	0.0104	26	c.529 others(45): Show c.529+12629_529+12630insATATATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315274	G G	GCTCTCTC others(19): Show GCTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	19	0.0526	26	c.48 others(37): Show c.4890_*4891insAGAGAGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3136		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122351372	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0059 a0002c0006t0001g0059	1	14	0.0714	26	c.350 others(45): Show c.3505-5717_3505-5692dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122527617	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	78	0.0128	26	c.147 others(47): Show c.1476-14303_1476-14302insACACACTCTCTCTCTCTCTCTCTC TC	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	8/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122579450	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0006 a0003c0009t0006	a0003c0009t0006g0122 a0003c0009t0006g0122	1	36	0.0278	26	c.133 others(45): Show c.1335+1703_1335+1728dupATATATATATATATATATATATATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	7/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122645516	A A	ATATATAT others(19): Show ATATATATAAGTATATATATATATACT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0108 a0001c0003t0002g0108	1	118	0.0085	26	c.787 others(45): Show c.787-16189_787-16188insAGTATATATATATATACTTATATATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62648691	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	6	0.1667	26	c.120 others(45): Show c.1203+2155_1203+2156insTTTTTTTTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	5/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62731805	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp1 HG01261.hp1 others(4): Show HG01099.hp2 HG01192.hp1 HG01261.hp1 HG02647.hp1 HG02735.hp2 HG03579.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0082 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0145	7	84	0.0833	26	c.888 others(45): Show c.888+21635_888+21636insTTTTTTTTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7358027	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	131	0.0076	26	c.219 others(45): Show c.2194-1924_2194-1899dupATATATATATATATATATATATATAT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13			chr6	TogoVar
CAGE1_chr6_7321659_7394742	7358065	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	352	0.0028	26	c.219 others(45): Show c.2194-1937_2194-1936insGTATATATATATATATATATATATAT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	31	0.0323	26	c.-18 others(37): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding		1779		chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	33	0.0303	26	c.912 others(43): Show c.912+1385_912+1386insATATATATATATATATATATATTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48861659	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19030.hp1 NA21309.hp2 HG03540.hp1 NA19030.hp1 NA21309.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0010 a0004c0004t0012 a0004c0004t0005 a0004c0004t0010 a0004c0004t0012	a0004c0004t0005g0101 a0004c0004t0010g0096 a0004c0004t0012g0076 a0004c0004t0005g0101 a0004c0004t0010g0096 a0004c0004t0012g0076	3	100	0.0300	26	c.114 others(43): Show c.1145-616_1145-615insATATATATATATATATATATATATAT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCR_chr7_93419486_93579724	93460581	A A	ATATATAT others(19): Show ATATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02145.hp1 HG02257.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0080 a0002c0007t0002g0081 a0002c0007t0002g0080 a0002c0007t0002g0081	2	280	0.0071	26	c.648 others(41): Show c.648+239_648+240insCATATATATATATATATGTATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG02055.hp2 others(14): Show HG00741.hp1 HG01358.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp2 HG03098.hp1 HG03927.hp1 NA18906.hp1 NA18942.hp2 NA18952.hp2 NA18981.hp1 NA18989.hp1 NA19001.hp2 NA19065.hp1 NA19079.hp2 NA19085.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 others(1): Show a0001c0001 a0001c0011 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0011t0016 a0002c0002t0001 a0002c0002t0002 a0002c0002t0017 a0002c0004t0001	a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0124 others(12): Show a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0278 a0001c0001t0002g0243 a0001c0001t0003g0001 a0001c0001t0003g0093 a0001c0001t0013g0281 a0001c0011t0016g0094 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0002g0152 a0002c0002t0017g0236 a0002c0004t0001g0101	17	71	0.2394	26	c.-27 others(45): Show c.-27+19519_-27+19520insTATATATATATATATATATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93568509	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	32	0.0313	26	c.-27 others(43): Show c.-27+5754_-27+5779dupGAGAGAGAGAGAGAGAGAGAGAGAGA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALM2_chr2_47155084_47181511	47167693	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	48	0.0208	26	c.34+ others(41): Show c.34+3015_34+3040dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CCTTTTTT others(19): Show CCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03453.hp2 HG02572.hp1 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0303 a0001c0001t0002g0298 a0001c0001t0002g0302 a0001c0001t0001g0303 a0001c0001t0002g0298 a0001c0001t0002g0302	3	64	0.0469	26	c.34+ others(41): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAAG	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALML3_chr10_5519961_5531771	5521223	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01069.hp2 others(7): Show HG00408.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp2 HG02055.hp2 HG02135.hp2 HG02300.hp1 HG02559.hp2 NA18955.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0002t0001g0000 others(2): Show a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0003g0000	10	241	0.0415	26	c.-38 others(37): Show c.-3863_-3862insTATATATATATATATATATATATATA	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3737		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02280.hp2 HG03540.hp1 others(4): Show HG02015.hp1 HG02280.hp2 HG03540.hp1 NA18946.hp1 NA18966.hp1 NA18993.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0002t0003 a0001c0001t0002 a0001c0001t0007 a0001c0002t0003	a0001c0001t0002g0000 a0001c0001t0007g0000 a0001c0002t0003g0000 a0001c0001t0002g0000 a0001c0001t0007g0000 a0001c0002t0003g0000	7	332	0.0211	26	c.-38 others(37): Show c.-3847_-3846insTATATATATATATATATATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521241	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01123.hp2 HG02809.hp2 others(6): Show HG00597.hp2 HG01123.hp2 HG02809.hp2 HG03239.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp2 NA18980.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0003g0000	9	374	0.0241	26	c.-38 others(37): Show c.-3845_-3844insTATATATATATATATATATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3719		chr10	TogoVar
CALN1_chr7_71774491_72417338	71806262	A A	ACACGCAC others(19): Show ACACGCACACACACAAACACACACATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00738.hp2 others(40): Show HG00323.hp2 HG00438.hp2 HG00738.hp2 HG01884.hp1 HG01934.hp2 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03490.hp1 NA18747.hp1 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18975.hp1 NA18975.hp2 NA18990.hp1 NA19002.hp2 NA19004.hp2 NA19043.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0053 a0001c0001t0060 a0001c0001t0061	a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0090 others(40): Show a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0090 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0074 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0113 a0001c0001t0004g0081 a0001c0001t0004g0088 a0001c0001t0005g0014 a0001c0001t0006g0007 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0009g0029 a0001c0001t0010g0104 a0001c0001t0010g0106 a0001c0001t0012g0010 a0001c0001t0012g0013 a0001c0001t0013g0077 a0001c0001t0016g0032 a0001c0001t0016g0096 a0001c0001t0019g0075 a0001c0001t0019g0085 a0001c0001t0020g0092 a0001c0001t0020g0093 a0001c0001t0024g0008 a0001c0001t0026g0011 a0001c0001t0028g0015 a0001c0001t0032g0091 a0001c0001t0044g0098 a0001c0001t0045g0063 a0001c0001t0046g0127 a0001c0001t0047g0128 a0001c0001t0048g0129 a0001c0001t0051g0132 a0001c0001t0053g0135 a0001c0001t0060g0141 a0001c0001t0061g0142	43	125	0.3440	26	c.658 others(43): Show c.658+4073_658+4074insCATGTGTGTGTTTGTGTGTGTGCGTG	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71806262	A A	ACGCACAC others(19): Show ACGCACACACACACAAACACACACATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	83	0.0120	26	c.658 others(43): Show c.658+4073_658+4074insCATGTGTGTGTTTGTGTGTGTGTGCG	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71907239	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	87	0.0115	26	c.502 others(45): Show c.502-96773_502-96748dupGTGTGTGTGTGTGTGTGTGTGTGTGT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0028	1	69	0.0145	26	c.501 others(43): Show c.501+6658_501+6659insTTTTTTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72081417	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00639.hp1 others(28): Show HG00323.hp2 HG00438.hp2 HG00639.hp1 HG00738.hp1 HG01071.hp1 HG01255.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01934.hp1 HG02015.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG03195.hp2 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18961.hp2 NA18962.hp1 NA18975.hp1 NA18990.hp1 NA19002.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0001t0038 a0001c0001t0045 a0001c0001t0051	a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0090 others(28): Show a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0100 a0001c0001t0003g0124 a0001c0001t0005g0009 a0001c0001t0006g0018 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0009g0029 a0001c0001t0009g0031 a0001c0001t0010g0104 a0001c0001t0012g0010 a0001c0001t0016g0032 a0001c0001t0017g0035 a0001c0001t0020g0093 a0001c0001t0025g0016 a0001c0001t0026g0011 a0001c0001t0028g0015 a0001c0001t0031g0025 a0001c0001t0034g0052 a0001c0001t0038g0024 a0001c0001t0045g0063 a0001c0001t0051g0132	31	60	0.5167	26	c.388 others(45): Show c.388+24733_388+24734insGACACACACACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAAATATA others(19): Show AAAATATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	52	0.0192	26	c.244 others(45): Show c.244+73134_244+73135insATATATATATATATATGTATATATTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTCTGTCTGTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	76	0.0132	26	c.120 others(45): Show c.120-59716_120-59715insGACAGACAGACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTCTGTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20905.hp2 NA21309.hp2 HG00642.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014	a0001c0001t0002g0074 a0001c0001t0003g0080 a0001c0001t0014g0069 a0001c0001t0002g0074 a0001c0001t0003g0080 a0001c0001t0014g0069	3	78	0.0385	26	c.120 others(45): Show c.120-59716_120-59715insGACAGACACACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	76	0.0132	26	c.120 others(45): Show c.120-59716_120-59715insGACACACACACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALU_chr7_128734359_128778400	128768847	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0008 a0001c0001t0010	a0001c0001t0008g0118 a0001c0001t0008g0120 a0001c0001t0010g0266 a0001c0001t0008g0118 a0001c0001t0008g0120 a0001c0001t0010g0266	3	170	0.0176	26	c.844 others(41): Show c.844-195_844-194insAAAAAAAAAAAAAAAAAAAAAAAAAA	CALU	ENSG00000128595.17	transcript	ENST00000249364.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12547682	T T	TCTCACAC others(19): Show TCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp1 HG01109.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0019 a0001c0001t0017 a0001c0001t0019	a0001c0001t0017g0159 a0001c0001t0019g0039 a0001c0001t0017g0159 a0001c0001t0019g0039	2	90	0.0222	26	c.93- others(41): Show c.93-5542_93-5541insTCACACACACACACACACACACACAC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12547682	T T	TCTCTCTC others(19): Show TCTCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0042 a0001c0001t0032g0042	1	89	0.0112	26	c.93- others(41): Show c.93-5542_93-5541insTCTCTCACACACACACACACACACAC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12563664	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	151	0.0066	26	c.224 others(45): Show c.224+10318_224+10343dupAGAGAGAGAGAGAGAGAGAGAGAGAG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12620186	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0120 a0001c0001t0013g0120	1	19	0.0526	26	c.225 others(45): Show c.225-46543_225-46518dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113603773	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0004 a0001c0001t0037g0004	1	63	0.0159	26	c.275 others(43): Show c.275+5353_275+5378dupTATATATATATATATATATATATATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	4/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(19): Show GATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0037 a0001c0001t0027g0037	1	53	0.0189	26	c.161 others(45): Show c.161-47975_161-47974insATATATATATATATATATGTATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG02132.hp2 others(12): Show HG00639.hp2 HG00741.hp1 HG02132.hp2 HG02155.hp1 HG02258.hp1 HG02717.hp2 HG03139.hp1 HG03831.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp2 NA18983.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0031 a0001c0001t0032 a0001c0001t0075 a0001c0007t0032	a0001c0001t0001g0167 a0001c0001t0002g0226 a0001c0001t0002g0240 others(12): Show a0001c0001t0001g0167 a0001c0001t0002g0226 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0006g0263 a0001c0001t0007g0047 a0001c0001t0007g0182 a0001c0001t0008g0194 a0001c0001t0008g0252 a0001c0001t0010g0177 a0001c0001t0018g0216 a0001c0001t0031g0266 a0001c0001t0032g0251 a0001c0001t0075g0246 a0001c0007t0032g0271	15	67	0.2239	26	c.161 others(45): Show c.161-48000_161-47975dupATATATATATATATATATATATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2G_chr10_73807501_73879555	73829700	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	177	0.0056	26	c.105 others(45): Show c.1054-1605_1054-1580dupACACACACACACACACACACACACAC	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	14/22			chr10	TogoVar
CAMK4_chr5_111219384_111499886	111480249	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG02523.hp1 HG02895.hp1 HG02897.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0018 a0001c0001t0081 a0001c0001t0015 a0001c0001t0018 a0001c0001t0081	a0001c0001t0015g0054 a0001c0001t0015g0055 a0001c0001t0018g0175 others(1): Show a0001c0001t0015g0054 a0001c0001t0015g0055 a0001c0001t0018g0175 a0001c0001t0081g0084	4	53	0.0755	26	c.828 others(43): Show c.828+1757_828+1782dupACACACACACACACACACACACACAC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01517.hp1 HG02622.hp1 others(14): Show HG00558.hp1 HG01517.hp1 HG02622.hp1 HG02723.hp1 HG02970.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03834.hp2 NA18946.hp1 NA18950.hp1 NA18983.hp2 NA18999.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0009 a0001c0011 a0002c0002 others(4): Show a0001c0009 a0001c0011 a0002c0002 a0002c0004 a0002c0006 a0002c0015 a0005c0012	a0001c0009t0005 a0001c0011t0017 a0002c0002t0003 others(7): Show a0001c0009t0005 a0001c0011t0017 a0002c0002t0003 a0002c0002t0009 a0002c0002t0013 a0002c0004t0001 a0002c0004t0016 a0002c0006t0004 a0002c0015t0010 a0005c0012t0002	a0001c0009t0005g0030 a0001c0011t0017g0324 a0002c0002t0003g0025 others(14): Show a0001c0009t0005g0030 a0001c0011t0017g0324 a0002c0002t0003g0025 a0002c0002t0003g0028 a0002c0002t0003g0104 a0002c0002t0003g0117 a0002c0002t0003g0157 a0002c0002t0009g0132 a0002c0002t0013g0107 a0002c0004t0001g0215 a0002c0004t0016g0266 a0002c0006t0004g0082 a0002c0006t0004g0083 a0002c0006t0004g0253 a0002c0006t0004g0289 a0002c0015t0010g0027 a0005c0012t0002g0112	17	162	0.1049	26	c.625 others(41): Show c.625+554_625+555insATATATATATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121268099	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18994.hp2 NA18982.hp2 NA18994.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0010 a0002c0004 a0004c0010	a0002c0004t0001 a0004c0010t0001 a0002c0004t0001 a0004c0010t0001	a0002c0004t0001g0081 a0004c0010t0001g0080 a0002c0004t0001g0081 a0004c0010t0001g0080	2	323	0.0062	26	c.625 others(41): Show c.625+538_625+539insGTATATATATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar

Search by Variant

Search

Search Results