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
PAK1_chr11_77317017_77479094	77415976	G G	GTATTATT others(17): Show GTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG02040.hp2 others(8): Show HG00099.hp2 HG00639.hp2 HG02040.hp2 HG02109.hp2 HG02451.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 NA18954.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0008	a0001c0001t0001g0017 a0001c0001t0001g0225 a0001c0001t0001g0226 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0002g0252 a0001c0001t0003g0236 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0272 a0001c0002t0008g0024 a0001c0002t0008g0025	11	302	0.0364	24	c.-21 others(43): Show c.-21-23436_-21-23435insATAATAATAATAATAATAATAATA	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	302	0.0033	24	c.-21 others(43): Show c.-21-36539_-21-36516dupTTTTTTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196751674	C C	CACATATA others(17): Show CACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0133 a0001c0001t0010g0133	1	178	0.0056	24	c.-22 others(43): Show c.-22+11518_-22+11519insCATATATATATATATATATATATA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196751674	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp2 HG02976.hp2 HG01891.hp2 HG02897.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0035 a0001c0001t0011 a0001c0001t0022 a0001c0001t0035	a0001c0001t0011g0152 a0001c0001t0022g0162 a0001c0001t0035g0153 a0001c0001t0011g0152 a0001c0001t0022g0162 a0001c0001t0035g0153	3	178	0.0169	24	c.-22 others(43): Show c.-22+11538_-22+11539insTATATATATATATATATATATATA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(17): Show ATATATATATATATATAAAAATTAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02083.hp1 HG04228.hp2 HG01346.hp2 HG02083.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0064 a0001c0001t0002 a0001c0001t0064	a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0064g0112 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0064g0112	3	178	0.0169	24	c.-22 others(43): Show c.-22+11538_-22+11539insTATATATATATATATAAAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(17): Show ATATATATATATATATATAAATTAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18954.hp1 NA19043.hp2 others(1): Show HG02004.hp2 NA18954.hp1 NA19043.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0060 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0060 a0001c0001t0062	a0001c0001t0002g0088 a0001c0001t0018g0086 a0001c0001t0060g0107 others(1): Show a0001c0001t0002g0088 a0001c0001t0018g0086 a0001c0001t0060g0107 a0001c0001t0062g0087	4	178	0.0225	24	c.-22 others(43): Show c.-22+11538_-22+11539insTATATATATATATATATAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196808557	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0150 a0001c0001t0020g0150	1	178	0.0056	24	c.709 others(39): Show c.709+661_709+662insAAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196822028	A A	ATGGCAGC others(17): Show ATGGCAGCAGATTCTGACCGTCTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0121 a0001c0001t0025g0121	1	178	0.0056	24	c.135 others(43): Show c.1350+1463_1350+1486dupGGCAGCAGATTCTGACCGTCTGTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833462	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02071.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0140 a0001c0001t0001g0035 a0001c0001t0001g0140	2	178	0.0112	24	c.50 others(35): Show c.5057_*5058insATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		816		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833468	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG03492.hp1 HG01346.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0056 a0001c0001t0001 a0001c0001t0056	a0001c0001t0001g0134 a0001c0001t0056g0145 a0001c0001t0001g0134 a0001c0001t0056g0145	2	178	0.0112	24	c.50 others(35): Show c.5063_*5064insATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		822		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833491	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	178	0.0056	24	c.50 others(35): Show c.5086_*5087insTATATATATATATATATATATATT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		845		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02897.hp2 HG03540.hp1 HG01975.hp1 HG02897.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0055 a0001c0001t0061 a0001c0001t0011 a0001c0001t0055 a0001c0001t0061	a0001c0001t0011g0152 a0001c0001t0055g0157 a0001c0001t0061g0102 a0001c0001t0011g0152 a0001c0001t0055g0157 a0001c0001t0061g0102	3	178	0.0169	24	c.58 others(35): Show c.5847_*5848insAAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1606		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834270	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0159 a0001c0001t0021g0159	1	178	0.0056	24	c.58 others(35): Show c.5865_*5866insAAAAAAAAAAAAAAAAAAAAAAAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1624		chr3	TogoVar
PAK4_chr19_39120786_39184404	39158201	A A	ATGTGCAT others(17): Show ATGTGCATGTGTGGGTGTGCGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp2 HG02922.hp1 HG02258.hp2 HG02886.hp2 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0138 a0002c0003t0005g0240 a0002c0003t0005g0262 a0002c0003t0005g0138 a0002c0003t0005g0240 a0002c0003t0005g0262	3	368	0.0082	24	c.-95 others(42): Show c.-95-10016_-95-9993dupGGTGTGCGTGTGTGTGCATGTGTG	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39165192	G G	GATAATAA others(17): Show GATAATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02055.hp2 HG03669.hp2 others(2): Show HG01358.hp1 HG02055.hp2 HG03669.hp2 NA19009.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0111 a0001c0001t0001g0116 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0227	5	368	0.0136	24	c.-95 others(41): Show c.-95-3036_-95-3035insAATAATAATAATAATAATAATAAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39165195	G G	GATGATGA others(17): Show GATGATGATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0097 a0001c0001t0014g0097	1	368	0.0027	24	c.-95 others(41): Show c.-95-3033_-95-3032insGATGATAATAATAATAATAATAAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39165515	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0097 a0001c0001t0014g0097	1	368	0.0027	24	c.-95 others(41): Show c.-95-2699_-95-2676dupTAAATAAATAAATAAATAAATAAA	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK5_chr20_9532370_9844076	9558043	T T	TATTTATT others(17): Show TATTTATTTATTTATTCATTCATTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0105 a0001c0002t0006g0105	1	208	0.0048	24	c.161 others(41): Show c.1617-310_1617-309insGAATGAATGAATAAATAAATAAAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	6/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02056.hp1 HG02258.hp1 others(9): Show HG01243.hp2 HG02056.hp1 HG02258.hp1 HG02300.hp2 HG02647.hp2 HG03130.hp1 HG04115.hp2 NA18948.hp1 NA18962.hp2 NA19012.hp1 NA19070.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0002 a0001c0004 a0001c0010 others(3): Show a0001c0002 a0001c0004 a0001c0010 a0002c0001 a0003c0003 a0007c0012	a0001c0002t0002 a0001c0002t0006 a0001c0004t0004 others(7): Show a0001c0002t0002 a0001c0002t0006 a0001c0004t0004 a0001c0010t0020 a0002c0001t0001 a0002c0001t0005 a0002c0001t0013 a0003c0003t0003 a0003c0003t0006 a0007c0012t0010	a0001c0002t0002g0001 a0001c0002t0002g0045 a0001c0002t0006g0162 others(9): Show a0001c0002t0002g0001 a0001c0002t0002g0045 a0001c0002t0006g0162 a0001c0004t0004g0108 a0001c0004t0004g0195 a0001c0010t0020g0089 a0002c0001t0001g0132 a0002c0001t0005g0155 a0002c0001t0013g0183 a0003c0003t0003g0026 a0003c0003t0006g0038 a0007c0012t0010g0151	12	208	0.0577	24	c.-16 others(45): Show c.-162+35851_-162+35852insTATATATATATATATATATATATA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0101 a0001c0006t0003g0101	1	208	0.0048	24	c.-16 others(45): Show c.-162+35851_-162+35852insTATATATATATATATATATATACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG01361.hp2 others(8): Show HG00099.hp2 HG00558.hp1 HG01361.hp2 HG02300.hp1 HG02809.hp2 HG03139.hp1 HG03490.hp2 HG03492.hp2 NA19043.hp1 NA19060.hp1 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0002c0001 others(1): Show a0001c0002 a0001c0005 a0002c0001 a0003c0003	a0001c0002t0007 a0001c0005t0008 a0002c0001t0001 others(3): Show a0001c0002t0007 a0001c0005t0008 a0002c0001t0001 a0002c0001t0002 a0002c0001t0011 a0003c0003t0003	a0001c0002t0007g0203 a0001c0005t0008g0115 a0001c0005t0008g0116 others(8): Show a0001c0002t0007g0203 a0001c0005t0008g0115 a0001c0005t0008g0116 a0002c0001t0001g0022 a0002c0001t0001g0071 a0002c0001t0001g0143 a0002c0001t0002g0079 a0002c0001t0011g0104 a0003c0003t0003g0088 a0003c0003t0003g0113 a0003c0003t0003g0184	11	208	0.0529	24	c.-16 others(45): Show c.-162+35851_-162+35852insTATATATATATATATATATACACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0158	1	208	0.0048	24	c.-16 others(45): Show c.-162+35851_-162+35852insTATATATATATATATATACACACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALB2_chr16_23598165_23646310	23608797	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0264 a0002c0002t0001g0264	1	326	0.0031	24	c.320 others(41): Show c.3202-786_3202-785insGTGTGTGTGTGTGTGTGTGTGTGT	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding	11/12			chr16	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0287 a0002c0002t0001g0287	1	326	0.0031	24	c.-39 others(35): Show c.-3981_-3980insAAAAAAAAAAAAAAAAAATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALD1_chr10_70473767_70573450	70501834	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG00738.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0089 a0001c0001t0011g0269 a0001c0001t0001g0089 a0001c0001t0011g0269	2	308	0.0065	24	c.-30 others(43): Show c.-30+22776_-30+22777insTGTGTGTGTGTGTGTGTGTGCGCG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp2 HG02602.hp1 others(8): Show HG00639.hp1 HG02486.hp2 HG02602.hp1 HG02886.hp2 HG02896.hp2 HG03486.hp2 HG03540.hp2 NA18945.hp2 NA18983.hp2 NA19066.hp1 NA20129.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0004 a0001c0014 others(2): Show a0001c0001 a0001c0004 a0001c0014 a0005c0009 a0007c0034	a0001c0001t0002 a0001c0004t0014 a0001c0004t0033 others(5): Show a0001c0001t0002 a0001c0004t0014 a0001c0004t0033 a0001c0014t0011 a0001c0014t0043 a0005c0009t0004 a0005c0009t0005 a0007c0034t0008	a0001c0001t0002g0188 a0001c0004t0014g0125 a0001c0004t0014g0196 others(8): Show a0001c0001t0002g0188 a0001c0004t0014g0125 a0001c0004t0014g0196 a0001c0004t0033g0124 a0001c0014t0011g0266 a0001c0014t0043g0265 a0005c0009t0004g0053 a0005c0009t0004g0111 a0005c0009t0004g0112 a0005c0009t0005g0083 a0007c0034t0008g0206	11	308	0.0357	24	c.-29 others(43): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168625500	G G	GAGATAGA others(17): Show GAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19007.hp2 NA19001.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0011 a0002c0003t0001 a0001c0001t0011 a0002c0003t0001	a0001c0001t0011g0122 a0002c0003t0001g0049 a0001c0001t0011g0122 a0002c0003t0001g0049	2	156	0.0128	24	c.909 others(43): Show c.909-42685_909-42684insGATAGATAGATAGATAGATAGATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785846	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 homoSapiens_chm13v2.hp1 HG01175.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0007 a0002c0015 a0002c0007 a0002c0015	a0002c0007t0001 a0002c0015t0003 a0002c0007t0001 a0002c0015t0003	a0002c0007t0001g0025 a0002c0015t0003g0058 a0002c0007t0001g0025 a0002c0015t0003g0058	2	156	0.0128	24	c.196 others(45): Show c.1964+73931_1964+73954dupTATATATATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(17): Show GTGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp2 NA18989.hp1 others(3): Show HG06807.hp1 NA18522.hp2 NA18989.hp1 NA19030.hp2 NA19068.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0021	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0002t0006 a0001c0004t0002 a0001c0021t0002	a0001c0001t0001g0080 a0001c0001t0003g0156 a0001c0002t0003g0022 others(3): Show a0001c0001t0001g0080 a0001c0001t0003g0156 a0001c0002t0003g0022 a0001c0002t0006g0143 a0001c0004t0002g0108 a0001c0021t0002g0153	6	156	0.0385	24	c.196 others(45): Show c.1964+81414_1964+81437dupATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109842767	C C	CTATCCCC others(17): Show CTATCCCCCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	1	222	0.0045	24	c.46- others(41): Show c.46-24723_46-24722insATCCCCCCCCCCCCCCCCCCCCGT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109869651	T T	TTCCATCC others(17): Show TTCCATCCATCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp1 HG01346.hp2 others(16): Show HG00609.hp1 HG01261.hp1 HG01346.hp2 HG02486.hp2 HG03130.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp1 NA18968.hp1 NA18971.hp2 NA18989.hp2 NA18999.hp2 NA19002.hp1 NA19010.hp2 NA19011.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003 a0002c0004t0001 a0002c0004t0002 a0003c0003t0001 a0004c0005t0002	a0001c0001t0001g0041 a0001c0001t0001g0074 a0001c0001t0001g0147 others(16): Show a0001c0001t0001g0041 a0001c0001t0001g0074 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0057 a0001c0001t0009g0069 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0004t0001g0040 a0002c0004t0002g0008 a0002c0004t0002g0179 a0002c0004t0002g0189 a0003c0003t0001g0076 a0003c0003t0001g0164 a0004c0005t0002g0029 a0004c0005t0002g0106	19	222	0.0856	24	c.126 others(41): Show c.126+2081_126+2104dupTCCATCCATCCATCCATCCATCCA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109969088	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18999.hp2 NA19090.hp1 NA18992.hp2 NA18999.hp2 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0035 a0003c0003t0001 a0002c0002t0001 a0002c0002t0035 a0003c0003t0001	a0002c0002t0001g0054 a0002c0002t0035g0072 a0003c0003t0001g0035 a0002c0002t0001g0054 a0002c0002t0035g0072 a0003c0003t0001g0035	3	222	0.0135	24	c.496 others(43): Show c.496+37062_496+37085dupACACACACACACACACACACACAC	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110006324	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 NA18995.hp1 HG00738.hp2 HG01074.hp2 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0004 a0002c0002t0005	a0002c0002t0004g0024 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0002t0004g0024 a0002c0002t0005g0110 a0002c0002t0005g0111	3	222	0.0135	24	c.497 others(41): Show c.497-9605_497-9582dupTCTTTCTTTCTTTCTTTCTTTCTT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01346.hp2 HG01433.hp1 others(11): Show HG00609.hp1 HG01346.hp2 HG01433.hp1 HG01978.hp1 HG02300.hp1 HG03017.hp1 HG03834.hp1 NA18906.hp1 NA18950.hp1 NA18982.hp1 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0012c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0002c0002t0001 a0002c0002t0003 a0002c0004t0002 a0003c0003t0001 a0012c0020t0003	a0001c0001t0001g0161 a0001c0001t0001g0209 a0001c0001t0002g0081 others(11): Show a0001c0001t0001g0161 a0001c0001t0001g0209 a0001c0001t0002g0081 a0001c0001t0029g0128 a0002c0002t0001g0050 a0002c0002t0003g0003 a0002c0002t0003g0097 a0002c0002t0003g0125 a0002c0002t0003g0156 a0002c0002t0003g0206 a0002c0004t0002g0073 a0002c0004t0002g0189 a0003c0003t0001g0098 a0012c0020t0003g0140	14	222	0.0631	24	c.583 others(43): Show c.583-59616_583-59615insTATATATATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110096426	A A	AATTAATT others(17): Show AATTAATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0163 a0001c0001t0006g0163	1	222	0.0045	24	c.583 others(43): Show c.583-39698_583-39697insAATTTATTTATTTATTTATTTATT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110096426	A A	AATTTATT others(17): Show AATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp2 HG02055.hp1 others(15): Show HG01243.hp1 HG01346.hp2 HG02055.hp1 HG02080.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 NA18942.hp2 NA19002.hp2 NA19011.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0007t0032 a0002c0002t0003 a0002c0004t0001 a0002c0004t0002 a0003c0003t0001	a0001c0001t0001g0034 a0001c0001t0001g0143 a0001c0001t0002g0200 others(15): Show a0001c0001t0001g0034 a0001c0001t0001g0143 a0001c0001t0002g0200 a0001c0007t0001g0030 a0001c0007t0001g0038 a0001c0007t0001g0048 a0001c0007t0001g0149 a0001c0007t0001g0166 a0001c0007t0032g0150 a0002c0002t0003g0014 a0002c0004t0001g0040 a0002c0004t0002g0093 a0002c0004t0002g0189 a0003c0003t0001g0064 a0003c0003t0001g0076 a0003c0003t0001g0084 a0003c0003t0001g0127 a0003c0003t0001g0160	18	222	0.0811	24	c.583 others(43): Show c.583-39678_583-39677insTATTTATTTATTTATTTATTTATT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110096446	T T	TATTTATT others(17): Show TATTTATTTATTTATTTATTTATTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03486.hp1 NA18906.hp2 HG01261.hp2 HG03486.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0001c0001t0008 a0006c0009t0014 a0001c0001t0001 a0001c0001t0008 a0006c0009t0014	a0001c0001t0001g0075 a0001c0001t0008g0049 a0006c0009t0014g0217 a0001c0001t0001g0075 a0001c0001t0008g0049 a0006c0009t0014g0217	3	222	0.0135	24	c.583 others(43): Show c.583-39678_583-39677insTATTTATTTATTTATTTATTAATT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS1_chr14_67236435_67341061	67241284	G G	GCGGTCTC others(17): Show GCGGTCTCGCGGCGGCCGCAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	290	0.0035	24	c.-48 others(33): Show c.-486_-485insCGGTCTCGCGGCGGCCGCAGGGGC	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding		150		chr14	TogoVar
PALS1_chr14_67236435_67341061	67280853	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02257.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0139 a0001c0001t0003g0140	2	290	0.0069	24	c.367 others(41): Show c.367+1319_367+1320insTTCCTTCCCTCCCTCCCTCCCTCC	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67280853	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCCTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18991.hp1 NA19003.hp2 others(1): Show HG00609.hp2 NA18991.hp1 NA19003.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0177 a0001c0001t0005g0179 a0001c0001t0005g0229 others(1): Show a0001c0001t0005g0177 a0001c0001t0005g0179 a0001c0001t0005g0229 a0001c0001t0005g0277	4	290	0.0138	24	c.367 others(41): Show c.367+1319_367+1320insTTCCTTCCCTCCTTCCCTCCCTCC	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0347 a0001c0002t0008g0347	1	378	0.0027	24	c.118 others(41): Show c.118-3391_118-3368dupTTTTTTTTTTTTTTTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PALS2_chr7_24568452_24699193	24691405	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0073 a0001c0002t0073	a0001c0002t0073g0305 a0001c0002t0073g0305	1	378	0.0027	24	c.37 others(35): Show c.3792_*3793insGTGTATATATATATATATATATAT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	12/12	3793	INFO_REALIGN_3_PRIME	chr7	TogoVar
PAM_chr5_102750305_103034716	102766926	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	188	0.0053	24	c.-37 others(45): Show c.-374+11586_-374+11609dupTTTTTTTTTTTTTTTTTTTTTTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102779918	T T	TATATATA others(17): Show TATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02976.hp1 HG02976.hp2 HG02886.hp1 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0184 a0001c0001t0002g0187 a0001c0001t0001g0003 a0001c0001t0001g0184 a0001c0001t0002g0187	3	188	0.0160	24	c.-37 others(45): Show c.-374+24571_-374+24572insTATATATATATATACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102881129	T T	TATACACA others(17): Show TATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA21309.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0112 a0001c0005t0002g0002 a0001c0001t0002g0112 a0001c0005t0002g0002	2	188	0.0106	24	c.210 others(43): Show c.210+13737_210+13738insTACACACACACACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102885094	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp2 HG02056.hp2 HG00642.hp2 HG01496.hp2 HG02056.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0002 a0005c0009t0002 a0001c0002t0002 a0005c0009t0002	a0001c0002t0002g0013 a0001c0002t0002g0111 a0005c0009t0002g0010 a0001c0002t0002g0013 a0001c0002t0002g0111 a0005c0009t0002g0010	3	188	0.0160	24	c.211 others(43): Show c.211-16261_211-16260insTATATATATATATATATATATAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102940509	T T	TATATATA others(17): Show TATATATATCAGAGGTAAGAAAGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	188	0.0053	24	c.527 others(41): Show c.527-6299_527-6276dupATATCAGAGGTAAGAAAGTGATAT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102950416	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	188	0.0053	24	c.802 others(39): Show c.802-300_802-277dupGTGTGTGTGTGTGTGTGTGTGTGT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102989796	T T	TTAGATAG others(17): Show TTAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp2 HG02723.hp2 HG00642.hp2 HG01496.hp2 HG02723.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0003 a0001c0002t0002 a0005c0009t0002 a0001c0001t0003 a0001c0002t0002 a0005c0009t0002	a0001c0001t0003g0175 a0001c0002t0002g0111 a0005c0009t0002g0010 a0001c0001t0003g0175 a0001c0002t0002g0111 a0005c0009t0002g0010	3	188	0.0160	24	c.148 others(41): Show c.1484-458_1484-435dupAGATAGATAGATAGATAGATAGAT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	15/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAN3_chr13_28133545_28300335	28235696	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0124 a0001c0001t0010g0124	1	252	0.0040	24	c.100 others(45): Show c.1000+15322_1000+15345dupCACACACACACACACACACACACA	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results