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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01496.hp2 others(6): Show HG00735.hp2 HG01106.hp1 HG01496.hp2 HG01978.hp2 HG02083.hp1 HG02738.hp1 HG03704.hp2 NA18747.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0003t0003	a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0166 others(6): Show a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0002g0291 a0001c0001t0011g0154 a0001c0003t0003g0151	9	332	0.0271	22	c.979 others(41): Show c.979-22024_979-22023insATATATATATATATATATATAT		PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE4B_chr1_65787895_66379574	65818685	C C	CACACACA others(15): Show CACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	118	0.0085	22	c.-71 others(41): Show c.-71+25438_-71+25439insCACACATATATATATATATATA		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	65924077	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03471.hp1 HG03516.hp1 HG01106.hp2 HG03471.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0018 a0001c0002t0004 a0001c0001t0009 a0001c0001t0018 a0001c0002t0004	a0001c0001t0009g0037 a0001c0001t0018g0052 a0001c0002t0004g0041 a0001c0001t0009g0037 a0001c0001t0018g0052 a0001c0002t0004g0041	3	118	0.0254	22	c.281 others(39): Show c.281+5257_281+5258insTTTTTTTTTTTTTTTTTTTTTT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	66090621	A A	ATATATAT others(15): Show ATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	118	0.0085	22	c.282 others(43): Show c.282-156838_282-156837insATATATATATATGTGTGTGTGT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	66090621	A A	ATATATAT others(15): Show ATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0064 a0001c0001t0005g0064	1	118	0.0085	22	c.282 others(43): Show c.282-156838_282-156837insATATATATATGTGTGTGTGTGT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	66090621	A A	ATATATAT others(15): Show ATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	118	0.0085	22	c.282 others(43): Show c.282-156838_282-156837insATATATATGTGTGTGTGTGTGT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4B_chr1_65787895_66379574	66131592	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	118	0.0085	22	c.282 others(43): Show c.282-115843_282-115822dupATATATATATATATATATATAT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4D_chr5_58964038_59898726	59181543	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03130.hp2 others(1): Show HG01884.hp2 HG02451.hp2 HG03130.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0003g0042 a0001c0001t0009g0013 others(1): Show a0001c0001t0001g0001 a0001c0001t0003g0042 a0001c0001t0009g0013 a0001c0001t0015g0066	4	74	0.0541	22	c.759 others(37): Show c.759-921_759-900dupATATATATATATATATATATAT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	4/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59392503	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02717.hp2 others(3): Show HG01891.hp1 HG02258.hp1 HG02717.hp2 HG03225.hp2 HG03239.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0002t0014	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0002g0023 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0002g0023 a0001c0001t0005g0008 a0001c0001t0017g0002 a0001c0002t0014g0026	6	74	0.0811	22	c.456 others(43): Show c.456-176536_456-176535insTATATATATATATATATATATA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59413457	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	74	0.0135	22	c.456 others(43): Show c.456-197511_456-197490dupTTTTTTTTTTTTTTTTTTTTTT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59616918	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01517.hp1 HG03017.hp2 others(1): Show HG00140.hp2 HG01517.hp1 HG03017.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0024 a0001c0001t0002g0041 a0001c0001t0002g0053 others(1): Show a0001c0001t0001g0024 a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0001t0008g0057	4	74	0.0541	22	c.455 others(43): Show c.455+276228_455+276249dupATATATATATATATATATATAT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59649904	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	74	0.0135	22	c.455 others(43): Show c.455+243263_455+243264insAAAAAAAAAAAAAAAAAAAAAA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59661074	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0010 a0001c0001t0011g0010	1	74	0.0135	22	c.455 others(43): Show c.455+232072_455+232093dupTATATATATATATATATATATA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59751574	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02965.hp2 HG02896.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0004g0031 a0001c0001t0001g0003 a0001c0001t0004g0031	2	74	0.0270	22	c.455 others(43): Show c.455+141572_455+141593dupACACACACACACACACACACAC		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59756509	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp1 HG02895.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0004 a0001c0001t0003 a0001c0005t0004	a0001c0001t0003g0044 a0001c0005t0004g0074 a0001c0001t0003g0044 a0001c0005t0004g0074	2	74	0.0270	22	c.455 others(43): Show c.455+136637_455+136658dupGTGTGTGTGTGTGTGTGTGTGT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59771483	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0074 a0001c0005t0004g0074	1	74	0.0135	22	c.455 others(43): Show c.455+121684_455+121685insCTCTCTTTCTTTCTTTCTTTCT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59771499	G G	GAGAAGAA others(15): Show GAGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01261.hp1 HG00140.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0032 a0001c0001t0016g0040 a0001c0001t0002g0032 a0001c0001t0016g0040	2	74	0.0270	22	c.455 others(43): Show c.455+121668_455+121669insTCTTTCTTTCTTTCTTTCTTCT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59771499	G G	GAGAGAGA others(15): Show GAGAGAGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	74	0.0135	22	c.455 others(43): Show c.455+121668_455+121669insTCTTTCTTTCTTTCTTCTCTCT		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59792402	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0002 a0001c0001t0017g0002	1	74	0.0135	22	c.455 others(43): Show c.455+100744_455+100765dupCACACACACACACACACACACA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE5A_chr4_119489403_119633804	119543045	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18968.hp2 NA19084.hp1 HG02165.hp2 NA18968.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0203	3	336	0.0089	22	c.139 others(39): Show c.1397-433_1397-412dupGTGTGTGTGTGTGTGTGTGTGT		PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding	9/20						chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATAGATA others(15): Show GATAGATAGATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0007 a0005c0009t0007	a0005c0009t0007g0147 a0005c0009t0007g0147	1	336	0.0030	22	c.-34 others(33): Show c.-3417_-3416insATATATATATATATCTATCTAT		PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding					3284		chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATATATA others(15): Show GATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01358.hp2 HG01515.hp1 others(7): Show HG01255.hp2 HG01358.hp2 HG01515.hp1 HG02129.hp2 HG02572.hp1 HG04184.hp1 NA18982.hp1 NA18998.hp1 NA19070.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0002c0003t0003	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(7): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0211 a0001c0001t0001g0298 a0001c0001t0006g0308 a0001c0001t0014g0030 a0002c0003t0003g0285	10	336	0.0298	22	c.-34 others(33): Show c.-3417_-3416insATATATATATATATATATATAT		PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding					3284		chr4	TogoVar
PDE6A_chr5_149852953_149949793	149889081	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0107 a0001c0001t0073g0107	1	328	0.0031	22	c.172 others(41): Show c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTTTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	13/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149900375	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01255.hp1 HG01361.hp2 others(14): Show HG00544.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG02040.hp1 HG02145.hp2 HG02683.hp2 HG02886.hp1 HG03195.hp2 HG03704.hp1 HG04199.hp1 NA18949.hp1 NA18979.hp1 NA18980.hp2 NA19077.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0025 a0001c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0081 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0008t0006 a0001c0025t0010 a0001c0033t0002	a0001c0001t0001g0027 a0001c0001t0001g0189 a0001c0001t0002g0028 others(14): Show a0001c0001t0001g0027 a0001c0001t0001g0189 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0011g0110 a0001c0001t0081g0057 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0284 a0001c0002t0001g0287 a0001c0002t0001g0290 a0001c0002t0002g0252 a0001c0002t0003g0253 a0001c0002t0005g0273 a0001c0008t0006g0275 a0001c0025t0010g0026 a0001c0033t0002g0251	17	328	0.0518	22	c.111 others(39): Show c.1114-873_1114-852dupTATATATATATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00673.hp1 others(20): Show HG00438.hp1 HG00544.hp2 HG00673.hp1 HG01081.hp2 HG01123.hp2 HG01261.hp1 HG01361.hp1 HG01934.hp1 HG02135.hp1 HG02698.hp1 HG02970.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 NA18963.hp2 NA18980.hp1 NA18986.hp1 NA19005.hp2 NA19012.hp1 NA19043.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0001t0029 a0001c0001t0038 a0001c0001t0048 a0001c0001t0061 a0001c0001t0071 a0001c0002t0001 a0001c0005t0049 a0001c0009t0055 a0006c0017t0002	a0001c0001t0001g0010 a0001c0001t0001g0087 a0001c0001t0001g0117 others(20): Show a0001c0001t0001g0010 a0001c0001t0001g0087 a0001c0001t0001g0117 a0001c0001t0001g0170 a0001c0001t0001g0210 a0001c0001t0002g0169 a0001c0001t0002g0198 a0001c0001t0003g0149 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0202 a0001c0001t0009g0188 a0001c0001t0014g0044 a0001c0001t0014g0133 a0001c0001t0029g0042 a0001c0001t0038g0166 a0001c0001t0048g0155 a0001c0001t0061g0008 a0001c0001t0071g0173 a0001c0002t0001g0225 a0001c0005t0049g0321 a0001c0009t0055g0014 a0006c0017t0002g0002	23	328	0.0701	22	c.106 others(39): Show c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149920942	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	328	0.0031	22	c.933 others(37): Show c.933+692_933+693insCTTTCTTTCTTTCTTTCTTTCT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	5/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp2 HG00438.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0210 a0001c0001t0009g0140 a0001c0001t0001g0210 a0001c0001t0009g0140	2	328	0.0061	22	c.858 others(39): Show c.858+2796_858+2797insAAAAAAAATATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0167	1	328	0.0031	22	c.858 others(39): Show c.858+2796_858+2797insAAAAAAAAAATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp2 NA18944.hp1 others(1): Show HG02886.hp1 HG03471.hp2 NA18944.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0030	a0001c0001t0072 a0001c0002t0001 a0001c0008t0006 others(1): Show a0001c0001t0072 a0001c0002t0001 a0001c0008t0006 a0001c0030t0027	a0001c0001t0072g0157 a0001c0002t0001g0276 a0001c0008t0006g0275 others(1): Show a0001c0001t0072g0157 a0001c0002t0001g0276 a0001c0008t0006g0275 a0001c0030t0027g0283	4	328	0.0122	22	c.858 others(39): Show c.858+2796_858+2797insAAAAAAAAAAAATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19054.hp1 HG02809.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0003 a0001c0008t0018 a0001c0002t0003 a0001c0008t0018	a0001c0002t0003g0228 a0001c0008t0018g0262 a0001c0002t0003g0228 a0001c0008t0018g0262	2	328	0.0061	22	c.858 others(39): Show c.858+2796_858+2797insAAAAAAAAAAAAAATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0294 a0001c0002t0003g0294	1	328	0.0031	22	c.858 others(39): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03927.hp1 HG02155.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0010 a0001c0002t0005 a0001c0002t0010	a0001c0002t0005g0304 a0001c0002t0010g0303 a0001c0002t0005g0304 a0001c0002t0010g0303	2	328	0.0061	22	c.858 others(39): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAAATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6B_chr4_620573_675782	654806	G G	GTGTCTTC others(15): Show GTGTCTTCTGCTTCTCAGGAAAT	frameshift_variant frameshift_variant	HIGH	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0029 a0001c0002t0004g0029	1	308	0.0033	22	c.928 others(31): Show c.928-9_940dupGCTTCTCAGGAAATTGTCTTCT	p.Tyr others(5): Show p.Tyr314fs	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	6/22	995/3294	941/2565	314/854		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	659622	A A	ATGTGCAC others(15): Show ATGTGCACATGTGTACACATGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	308	0.0033	22	c.146 others(39): Show c.1467+619_1467+640dupACACATGTGTGTGCACATGTGT		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	11/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6H_chr12_14968042_14986865	14982038	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	448	0.0022	22	c.56 others(31): Show c.562_*563insTTTTTTTTTTTTTTTTTTTTTT		PDE6H	ENSG00000139053.3	transcript	ENST00000266395.3	protein_coding					174		chr12	TogoVar
PDE7A_chr8_65709334_65847064	65713439	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	248	0.0040	22	c.58 others(33): Show c.5829_*5850dupGTGTGTGTGTGTGTGTGTGTGT		PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding					894		chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18990.hp2 NA18970.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0044 a0001c0001t0011g0041 a0001c0001t0011g0044	2	248	0.0081	22	c.139 others(41): Show c.139-15364_139-15363insAATATATATATATATATATATA		PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12						chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0083 a0001c0001t0012g0084 a0001c0001t0012g0083 a0001c0001t0012g0084	2	248	0.0081	22	c.139 others(41): Show c.139-15364_139-15363insAAAATATATATATATATATATA		PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12						chr8	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18939.hp1 HG02258.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0067 a0001c0001t0005 a0001c0001t0067	a0001c0001t0005g0068 a0001c0001t0067g0088 a0001c0001t0005g0068 a0001c0001t0067g0088	2	248	0.0081	22	c.139 others(41): Show c.139-15364_139-15363insAAAAAATATATATATATATATA		PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12						chr8	TogoVar
PDE7B_chr6_135846701_136200574	135906825	T T	TTTTTTTT others(15): Show TTTTTTTTGTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	142	0.0070	22	c.22- others(39): Show c.22-40632_22-40631insGTTTTTTTTTTTTTGTTTTTTT		PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135934825	A A	ATAAATAA others(15): Show ATAAATAAATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02280.hp2 HG02922.hp2 others(7): Show HG01074.hp1 HG02280.hp2 HG02922.hp2 HG03209.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp1 NA18983.hp2 NA18995.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0034 a0001c0001t0040 a0001c0002t0010 a0001c0002t0018	a0001c0001t0001g0066 a0001c0001t0002g0007 a0001c0001t0002g0026 others(7): Show a0001c0001t0001g0066 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0004g0078 a0001c0001t0004g0135 a0001c0001t0007g0139 a0001c0001t0034g0004 a0001c0001t0040g0015 a0001c0002t0010g0017 a0001c0002t0018g0002	10	142	0.0704	22	c.22- others(39): Show c.22-12622_22-12601dupTTTATTTAAATAAATATATATA		PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135935190	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	142	0.0070	22	c.22- others(39): Show c.22-12268_22-12247dupATATATATATATATATATATAT		PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	136156162	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp2 HG02717.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0019 a0001c0001t0015 a0001c0001t0019	a0001c0001t0015g0018 a0001c0001t0019g0141 a0001c0001t0015g0018 a0001c0001t0019g0141	2	142	0.0141	22	c.711 others(37): Show c.711+423_711+444dupGTGTGTGTGTGTGTGTGTGTGT		PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE8A_chr15_84976856_85144142	84978085	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0329 a0001c0002t0001g0329	1	344	0.0029	22	c.-40 others(33): Show c.-4078_-4077insGTGTGTGTGTGTGTGTGTGTGT		PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding					3770		chr15	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02015.hp2 HG02083.hp2 others(12): Show HG01257.hp1 HG02015.hp2 HG02083.hp2 HG02129.hp2 HG03209.hp2 HG03453.hp1 HG03927.hp1 HG03942.hp1 NA18941.hp1 NA18977.hp1 NA18981.hp2 NA19054.hp1 NA19065.hp2 NA19086.hp2 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0007 a0001c0001 a0001c0002 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0005c0007t0001 a0001c0001t0001 a0001c0002t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0191 a0001c0001t0001g0202 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0337 a0001c0002t0001g0327 a0005c0007t0001g0216	15	344	0.0436	22	c.173 others(41): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAA		PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8A_chr15_84976856_85144142	85123337	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	344	0.0029	22	c.208 others(39): Show c.2085+172_2085+193dupCACACACACACACACACACACA		PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	19/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77378049	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	314	0.0032	22	c.116 others(43): Show c.1168-22199_1168-22198insACACACACACACACACACACAT		PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21						chr5	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	314	0.0032	22	c.116 others(41): Show c.1168-3219_1168-3198dupTTTTTTTTTTTTTTTTTTTTTT		PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42653528	A A	AGGGAGGG others(15): Show AGGGAGGGGGGAGGGGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	324	0.0031	22	c.-28 others(31): Show c.-287_-286insGGGAGGGGGGAGGGGGGGAGGG		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding					92		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42653539	A A	AGGGGGGA others(15): Show AGGGGGGAGGGGGAGGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0303 a0001c0002t0001g0303	1	324	0.0031	22	c.-27 others(31): Show c.-276_-275insGGGGGGAGGGGGAGGGGGGGAG		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding					81		chr21	TogoVar

Search by Variant

Search

Search Results