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
P3R3URF_chr1_46170486_46181488	46179964	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG02486.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	422	0.0047	22	c.-35 others(33): Show c.-3515_-3494dupACACACACACACACACACACAC	P3R3URF	ENSG00000250719.2	transcript	ENST00000506599.2	protein_coding		3477		chr1	TogoVar
PAAF1_chr11_73871999_73936114	73898191	G G	GGGGAGAG others(15): Show GGGGAGAGGGAGGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp2 HG03195.hp1 others(2): Show HG02965.hp1 HG03139.hp2 HG03195.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0036 a0001c0001t0007g0037 others(1): Show a0001c0001t0007g0009 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0038	5	370	0.0135	22	c.283 others(37): Show c.283-951_283-930dupAGAGGGAGGGGGAGGGGAAGGG	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PABIR2_chrX_134764566_134802205	134788170	C C	CACGTTAT others(15): Show CACGTTATATATGTGTAATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	217	0.0046	22	c.435 others(37): Show c.435+538_435+559dupATATATTACACATATATAACGT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PABIR2_chrX_134764566_134802205	134788235	A A	ATATATAC others(15): Show ATATATACACGTTATATATGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	217	0.0046	22	c.435 others(37): Show c.435+473_435+494dupACACATATATAACGTGTATATA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PABIR2_chrX_134764566_134802205	134788320	A A	ATATATGT others(15): Show ATATATGTGTAATATATACACGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	217	0.0046	22	c.435 others(37): Show c.435+388_435+409dupACGTGTATATATTACACATATA	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PABIR2_chrX_134764566_134802205	134788510	A A	AATATGTT others(15): Show AATATGTTATATATATGTAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	217	0.0046	22	c.435 others(37): Show c.435+198_435+219dupATATTACATATATATAACATAT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PABIR3_chrX_134802237_134859832	134838647	T T	TCCCCCTC others(15): Show TCCCCCTCCCCCTCCCCCCCTCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	199	0.0050	22	c.247 others(39): Show c.247-6540_247-6539insCTCCCCCCCTCCCCCTCCCCCC	PABIR3	ENSG00000156500.16	transcript	ENST00000645433.2	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PABPC1_chr8_100697916_100727088	100700663	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA18956.hp1 NA18966.hp2 others(3): Show HG00673.hp2 NA18956.hp1 NA18966.hp2 NA18983.hp1 NA19007.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0001 a0001c0001t0001g0014	6	416	0.0144	22	c.26 others(33): Show c.2697_*2698insGTTTTTTTTTTTTTTTTTTTTT	PABPC1	ENSG00000070756.17	transcript	ENST00000318607.10	protein_coding		2252		chr8	TogoVar
PABPC4_chr1_39555816_39581790	39558101	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	374	0.0027	22	c.30 others(33): Show c.3034_*3035insAAAAAAAAAAAAAAAAAAAAAA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		2714		chr1	TogoVar
PACC1_chr1_212358928_212419886	212381770	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02109.hp1 HG02723.hp2 others(1): Show HG00323.hp1 HG02109.hp1 HG02723.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0269 a0001c0001t0003g0024 a0001c0001t0003g0056 others(1): Show a0001c0001t0002g0269 a0001c0001t0003g0024 a0001c0001t0003g0056 a0001c0001t0003g0074	4	374	0.0107	22	c.496 others(39): Show c.496-1755_496-1734dupGTGTGTGTGTGTGTGTGTGTGT	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7			chr1	TogoVar
PACC1_chr1_212358928_212419886	212381770	G G	GACACAGT others(15): Show GACACAGTGACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 NA19043.hp1 others(1): Show HG02559.hp2 HG02965.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 others(1): Show a0001c0002t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277	4	374	0.0107	22	c.496 others(39): Show c.496-1734_496-1733insGTGTGTGTGTGTGTCACTGTGT	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7			chr1	TogoVar
PACRG_chr6_162722974_163320500	162747401	T T	TAACTATA others(15): Show TAACTATAAATATATATGTAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	130	0.0077	22	c.156 others(41): Show c.156+19010_156+19011insAACTATAAATATATATGTAAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4			chr6	TogoVar
PACRG_chr6_162722974_163320500	162747474	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20300.hp2 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0004 a0001c0003t0003g0061 a0001c0001t0001g0004 a0001c0003t0003g0061	2	130	0.0154	22	c.156 others(41): Show c.156+19102_156+19103insATATATATATATATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947613	T T	TATATATA others(15): Show TATATATATATATATATATAATC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03704.hp1 NA20300.hp1 HG03471.hp2 HG03704.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0057 a0001c0001t0003g0105 a0001c0001t0006g0012 a0001c0001t0002g0057 a0001c0001t0003g0105 a0001c0001t0006g0012	3	130	0.0231	22	c.292 others(43): Show c.292-114518_292-114517insATCATATATATATATATATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162947614	A A	ATATATAT others(15): Show ATATATATATATATATATATGAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0081	1	130	0.0077	22	c.292 others(43): Show c.292-114517_292-114516insGATTATATATATATATATATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162981305	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	130	0.0077	22	c.292 others(41): Show c.292-80844_292-80843insATATATATATATATATATATTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162981305	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03139.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0044 a0001c0001t0003g0018 a0001c0001t0001g0044 a0001c0001t0003g0018	2	130	0.0154	22	c.292 others(41): Show c.292-80844_292-80843insATATATATATATTTTTTTTTTT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163224368	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	130	0.0077	22	c.614 others(41): Show c.614-90454_614-90433dupAAAAAAAAAAAAAAAAAAAAAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163250883	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	130	0.0077	22	c.614 others(41): Show c.614-63941_614-63920dupTATATATATATATATATATATA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163269867	G G	GAGAAAGA others(15): Show GAGAAAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03225.hp1 HG02004.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0011 a0001c0001t0002 a0001c0004t0011	a0001c0001t0002g0041 a0001c0004t0011g0034 a0001c0001t0002g0041 a0001c0004t0011g0034	2	130	0.0154	22	c.614 others(41): Show c.614-44949_614-44948insGAAAGAAAGAAAGAAAGAAAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66156204	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0107 a0001c0001t0010g0107	1	322	0.0031	22	c.357 others(41): Show c.357-37253_357-37232dupTATATATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	322	0.0031	22	c.445 others(39): Show c.445-7619_445-7618insAAAAAAAAAAAAAAAAAATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	322	0.0031	22	c.445 others(39): Show c.445-7619_445-7618insAAAAAAAAAAAAAATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0083 a0002c0004t0002g0083	1	322	0.0031	22	c.445 others(39): Show c.445-7619_445-7618insAAAAAAAAAAAATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACS1_chr11_66065272_66249744	66202742	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	322	0.0031	22	c.445 others(39): Show c.445-7619_445-7618insAAAAAATATATATATATATATA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN2_chr22_42864773_43020149	42889373	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00609.hp1 others(48): Show HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02080.hp1 HG02257.hp2 HG02293.hp2 HG02559.hp1 HG02698.hp1 HG02809.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18949.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19009.hp1 NA19010.hp1 NA19068.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0004c0008t0001	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0054 others(48): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0084 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0146 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0233 a0001c0001t0011g0057 a0001c0001t0016g0114 a0004c0008t0001g0154	51	294	0.1735	22	c.454 others(37): Show c.454-597_454-576dupGTGTGTGTGTGTGTGTGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	4/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01175.hp1 others(2): Show HG00140.hp2 HG01168.hp1 HG01175.hp1 HG03139.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0003 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0007 a0001c0003t0003	a0001c0001t0001g0029 a0001c0002t0003g0081 a0001c0002t0003g0266 others(2): Show a0001c0001t0001g0029 a0001c0002t0003g0081 a0001c0002t0003g0266 a0001c0002t0007g0267 a0001c0003t0003g0028	5	294	0.0170	22	c.-78 others(39): Show c.-78+4622_-78+4623insAAAAAATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0268 a0001c0002t0007g0272 a0001c0002t0007g0268 a0001c0002t0007g0272	2	294	0.0068	22	c.-78 others(39): Show c.-78+4622_-78+4623insAAAAAAAATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17248636	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	406	0.0025	22	c.43 others(33): Show c.4393_*4394insAAAAAAAAAAAAAAAAAAAAAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding		2630		chr1	TogoVar
PADI3_chr1_17244098_17289233	17248636	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	368	0.0027	22	c.-50 others(31): Show c.-502_-501insAAAAAAAAAAAAAAAAAAAAAA	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding		461		chr1	TogoVar
PADI6_chr1_17367196_17406699	17379111	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 HG03139.hp2 others(2): Show HG02630.hp2 HG03139.hp1 HG03139.hp2 NA18962.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0039 a0001c0001t0005g0045 a0001c0001t0005g0346 others(2): Show a0001c0001t0005g0039 a0001c0001t0005g0045 a0001c0001t0005g0346 a0001c0001t0005g0347 a0001c0002t0005g0049	5	412	0.0121	22	c.368 others(37): Show c.368-788_368-787insTTTTTTTTTTTTTTTTTTTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172404	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0222 a0001c0001t0032g0222	1	432	0.0023	22	c.47 others(33): Show c.4705_*4706insTATATATATATATATATTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1360		chr11	TogoVar
PAGE1_chrX_49682447_49700984	49690091	G G	GTATATAT others(15): Show GTATATATGTGTATATATACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01928.hp1 others(32): Show HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02080.hp2 HG02280.hp1 HG02698.hp1 HG02738.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 NA18939.hp2 NA18944.hp1 NA18949.hp1 NA18955.hp1 NA18964.hp1 NA18968.hp2 NA18975.hp1 NA18978.hp1 NA18982.hp1 NA18986.hp1 NA18992.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19083.hp1 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0023 others(26): Show a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0003t0001g0270	35	322	0.1087	22	c.293 others(37): Show c.293-570_293-549dupTGTGTATATATACACATATATA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102868001	T T	TACATATA others(15): Show TACATATATAGATGTATATATAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0304 a0001c0004t0026g0304	1	312	0.0032	22	c.442 others(39): Show c.442-1339_442-1338insGTATATATACATCTATATATGT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102895869	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0286 a0001c0001t0004g0286	1	312	0.0032	22	c.169 others(37): Show c.169-952_169-951insATATATATATATATTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102897492	T T	TATATATA others(15): Show TATATATATATATACATATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	312	0.0032	22	c.169 others(39): Show c.169-2575_169-2574insTTATATATGTATATATATATAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00735.hp2 others(14): Show HG00140.hp2 HG00609.hp2 HG00735.hp2 HG01106.hp2 HG01433.hp1 HG01975.hp2 HG02300.hp1 HG03239.hp2 HG03491.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18978.hp2 NA19009.hp2 NA19086.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0209 a0001c0001t0001g0224 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0209 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0293	17	350	0.0486	22	c.125 others(41): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	302	0.0033	22	c.-21 others(41): Show c.-21-36537_-21-36516dupTTTTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196735294	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	178	0.0056	22	c.-48 others(33): Show c.-4885_-4884insAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		4562		chr3	TogoVar
PAK2_chr3_196734857_196837647	196751674	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0161 a0001c0001t0054g0161	1	178	0.0056	22	c.-22 others(41): Show c.-22+11538_-22+11539insTATATATATATATATATATATA	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(15): Show ATATATATATATATAAAAATTAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02273.hp2 HG01169.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0114 a0001c0001t0002g0081 a0001c0001t0002g0114	2	178	0.0112	22	c.-22 others(41): Show c.-22+11538_-22+11539insTATATATATATATAAAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(15): Show ATATATATATATATATAAATTAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18995.hp1 HG01169.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0069 a0001c0001t0018 a0001c0001t0069	a0001c0001t0018g0084 a0001c0001t0069g0072 a0001c0001t0018g0084 a0001c0001t0069g0072	2	178	0.0112	22	c.-22 others(41): Show c.-22+11538_-22+11539insTATATATATATATATAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196811385	C C	CTTCCTTC others(15): Show CTTCCTTCCTTCCTTCCCTTCTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	178	0.0056	22	c.773 others(37): Show c.773+732_773+733insTTCCTTCCTTCCTTCCCTTCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196833466	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0099 a0001c0001t0058g0099	1	178	0.0056	22	c.50 others(33): Show c.5061_*5062insATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		820		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833470	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 NA19043.hp2 HG00280.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0088 a0001c0001t0003g0031 a0001c0001t0002g0088 a0001c0001t0003g0031	2	178	0.0112	22	c.50 others(33): Show c.5065_*5066insATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		824		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833472	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0168 a0001c0001t0015g0168	1	178	0.0056	22	c.50 others(33): Show c.5067_*5068insATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		826		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833491	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 NA18980.hp1 HG02055.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0049 a0001c0001t0033 a0001c0001t0049	a0001c0001t0033g0043 a0001c0001t0049g0027 a0001c0001t0033g0043 a0001c0001t0049g0027	2	178	0.0112	22	c.50 others(33): Show c.5086_*5087insTATATATATATATATATATATT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		845		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833491	A A	ATATATAT others(15): Show ATATATATATATATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0076 a0001c0002t0057g0076	1	178	0.0056	22	c.50 others(33): Show c.5086_*5087insTATATATATATATTTATTTATT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		845		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG04228.hp2 HG02004.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0064 a0001c0001t0062 a0001c0001t0064	a0001c0001t0062g0087 a0001c0001t0064g0112 a0001c0001t0062g0087 a0001c0001t0064g0112	2	178	0.0112	22	c.58 others(33): Show c.5847_*5848insAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1606		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834264	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 NA18906.hp1 HG02055.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0100 a0001c0001t0017g0101 a0001c0001t0017g0100 a0001c0001t0017g0101	2	178	0.0112	22	c.58 others(33): Show c.5859_*5860insAAAAAAAAAAAAAAAAAAAAAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1618		chr3	TogoVar

Search by Variant

Search

Search Results