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
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0161 a0001c0002t0070g0161	1	119	0.0084	27	c.117 others(44): Show c.117+9497_117+9498insATATATATATATATATATATTTTTTTT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24648449	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0191 a0001c0002t0003g0191	1	57	0.0175	27	c.-13 others(38): Show c.-1345_-1344insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding					1103		chrX	TogoVar
PDCD6_chr5_266646_319974	298726	A A	ACCCAGCT others(20): Show ACCCAGCTGCTCCACCCAGCTGCTCCCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0302 a0002c0003t0001g0302	1	309	0.0032	27	c.164 others(44): Show c.164-5439_164-5438insACCCAGCTGCTCCCCCCCAGCTGCTCC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	298822	C C	CCAGCTGC others(20): Show CCAGCTGCTCCCCCCCAGCTGCTCCCCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 NA18906.hp1 others(1): Show HG02451.hp2 HG02486.hp2 NA18906.hp1 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0019 a0002c0004t0003g0265 a0002c0004t0003g0266 a0002c0004t0003g0019 a0002c0004t0003g0265 a0002c0004t0003g0266	4	289	0.0138	27	c.164 others(44): Show c.164-5354_164-5353insAGCTGCTCCCCCCCAGCTGCTCCCCGC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCL2_chr4_55551519_55597245	55571686	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	84	0.0119	27	c.219 others(44): Show c.219-1826_219-1825insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding	3/5						chr4	TogoVar
PDE10A_chr6_165322289_165668241	165542612	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA20300.hp1 HG02698.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0179 a0001c0004t0002g0170 a0001c0001t0002g0179 a0001c0004t0002g0170	2	101	0.0198	27	c.994 others(42): Show c.994+827_994+828insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21						chr6	TogoVar
PDE11A_chr2_177618244_178077777	177819860	T T	TTCTCTTC others(20): Show TTCTCTTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0096 a0001c0001t0025g0096	1	83	0.0120	27	c.157 others(44): Show c.1576+359_1576+360insGAGAGAGAGAGAGAGAGAGAGAAGAGA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	7/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	177819860	T T	TTCTCTTT others(20): Show TTCTCTTTCTCTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0017 a0001c0024t0017	a0001c0024t0017g0044 a0001c0024t0017g0044	1	83	0.0120	27	c.157 others(44): Show c.1576+359_1576+360insGAGAGAGAGAGAGAGAAGAGAAAGAGA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	7/19						chr2	TogoVar
PDE3A_chr12_20363537_20693583	20612602	T T	TTATATAA others(20): Show TTATATAAGTAACTATATATAAAAGTAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0076 a0001c0001t0099g0076	1	194	0.0052	27	c.101 others(44): Show c.1012-820_1012-819insAAGTAATATATAAGTAACTATATATAA		PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20623628	T T	TTATGATG others(20): Show TTATGATGGATATATTCTAGAAAGAATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0077 a0002c0004t0077	a0002c0004t0077g0049 a0002c0004t0077g0049	1	166	0.0060	27	c.154 others(46): Show c.1540+2336_1540+2362dupATATTCTAGAAAGAATATATGATGGA T		PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20623659	G G	GATGGATA others(20): Show GATGGATATATTCTAGAAAGAATATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03579.hp1 HG02886.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0101 a0002c0002t0120 a0001c0001t0101 a0002c0002t0120	a0001c0001t0101g0165 a0002c0002t0120g0067 a0001c0001t0101g0165 a0002c0002t0120g0067	2	196	0.0102	27	c.154 others(46): Show c.1540+2274_1540+2275insTATGGATATATTCTAGAAAGAATATA T		PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20623763	A A	ATATGATG others(20): Show ATATGATGGATGTATTCTAGAAAGAATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02886.hp1 HG03486.hp1 others(1): Show HG01934.hp1 HG02886.hp1 HG03486.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0073 a0001c0001t0101 a0002c0002t0117 others(1): Show a0001c0001t0073 a0001c0001t0101 a0002c0002t0117 a0002c0002t0120	a0001c0001t0073g0114 a0001c0001t0101g0165 a0002c0002t0117g0195 others(1): Show a0001c0001t0073g0114 a0001c0001t0101g0165 a0002c0002t0117g0195 a0002c0002t0120g0067	4	59	0.0678	27	c.154 others(46): Show c.1540+2405_1540+2431dupTTTATGATGGATGTATTCTAGAAAGA A		PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3B_chr11_14638804_14877044	14700407	A A	ACAGGAAA others(20): Show ACAGGAAAAATAAAAAAATTGAGGTATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG03225.hp1 others(2): Show HG02647.hp2 HG03098.hp1 HG03225.hp1 HG03486.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0001c0008 a0006c0009 a0001c0004 a0001c0008 a0006c0009	a0001c0004t0002 a0001c0004t0005 a0001c0008t0002 others(1): Show a0001c0004t0002 a0001c0004t0005 a0001c0008t0002 a0006c0009t0005	a0001c0004t0002g0182 a0001c0004t0005g0330 a0001c0004t0005g0331 others(2): Show a0001c0004t0002g0182 a0001c0004t0005g0330 a0001c0004t0005g0331 a0001c0008t0002g0230 a0006c0009t0005g0329	5	330	0.0152	27	c.978 others(46): Show c.978+55355_978+55356insAGGAAAAATAAAAAAATTGAGGTATG C		PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE4B_chr1_65787895_66379574	65887247	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	55	0.0182	27	c.-70 others(46): Show c.-70-25996_-70-25995insCTTTCTTTCTTTCTTTCTTTCTTTCT T		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4D_chr5_58964038_59898726	59434087	T T	TCTCATCT others(20): Show TCTCATCTTTAGGATGTTCCTAAAGAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	74	0.0135	27	c.456 others(48): Show c.456-218146_456-218120dupCTTCTTTAGGAACATCCTAAAGAT GAG		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59649904	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	27	0.0370	27	c.455 others(48): Show c.455+243263_455+243264insAAAAAAAAAAAAAAAAAAAAAAAA AAA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149889081	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0048 a0001c0009t0048	a0001c0009t0048g0106 a0001c0009t0048g0106	1	198	0.0051	27	c.172 others(46): Show c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTTTTTTTTT T		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	13/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG02293.hp2 others(1): Show HG01192.hp2 HG01255.hp2 HG02293.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0001g0181 a0001c0001t0002g0163 others(1): Show a0001c0001t0001g0160 a0001c0001t0001g0181 a0001c0001t0002g0163 a0001c0001t0002g0164	4	66	0.0606	27	c.106 others(44): Show c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149920942	A A	AAAAGAAA others(20): Show AAAAGAAAGAAAGAAAGAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0312 a0001c0002t0028g0312	1	143	0.0070	27	c.933 others(42): Show c.933+692_933+693insCTTTCTTCTTTCTTTCTTTCTTTCTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	5/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149920942	A A	AAAAGAAA others(20): Show AAAAGAAAGAAAGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0325 a0001c0005t0001g0325	1	143	0.0070	27	c.933 others(42): Show c.933+692_933+693insCTTTCTTTCTTTCTTCTTTCTTTCTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	5/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0270 a0001c0002t0056g0270	1	69	0.0145	27	c.858 others(44): Show c.858+2796_858+2797insAAAAAAAAAAATATATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19012.hp2 NA18949.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0289 a0001c0002t0001g0290	2	70	0.0286	27	c.858 others(44): Show c.858+2796_858+2797insAAAAAAAAAAAAATATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01981.hp2 HG03453.hp2 HG01928.hp2 HG01981.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0034 a0001c0002 a0001c0034	a0001c0002t0001 a0001c0002t0069 a0001c0034t0003 a0001c0002t0001 a0001c0002t0069 a0001c0034t0003	a0001c0002t0001g0234 a0001c0002t0069g0267 a0001c0034t0003g0318 a0001c0002t0001g0234 a0001c0002t0069g0267 a0001c0034t0003g0318	3	71	0.0423	27	c.858 others(44): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0305 a0001c0002t0004g0305	1	69	0.0145	27	c.858 others(44): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0010 a0001c0001t0038g0010	1	87	0.0115	27	c.139 others(46): Show c.139-15364_139-15363insAAAAAAAAATATATATATATATATAT A		PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12						chr8	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01891.hp1 others(11): Show HG00099.hp2 HG00597.hp1 HG01891.hp1 HG01978.hp2 HG02056.hp2 HG02129.hp1 HG02647.hp1 HG03669.hp2 NA18747.hp2 NA19011.hp1 NA19067.hp1 NA19081.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0093 others(11): Show a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0310 a0001c0002t0001g0317	14	78	0.1795	27	c.173 others(46): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA A		PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18998.hp2 HG02027.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0114 a0001c0001t0006g0236 a0001c0001t0006g0114 a0001c0001t0006g0236	2	67	0.0299	27	c.116 others(46): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT T		PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	81	0.0123	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATATATATATATTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA19064.hp2 HG01515.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0244 a0001c0003t0003g0281 a0001c0001t0001g0244 a0001c0003t0003g0281	2	82	0.0244	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATATATATTTTTTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03927.hp2 HG02300.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0283 a0001c0002t0003g0299 a0001c0002t0003g0283 a0001c0002t0003g0299	2	82	0.0244	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATATATTTTTTTTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	81	0.0123	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATATTTTTTTTTTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	81	0.0123	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATTTTTTTTTTTTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFD_chr11_103902189_104169147	104134178	A A	AGATATAA others(20): Show AGATATAACTAAATACCCCTGTATTTAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG01256.hp2 others(29): Show HG00323.hp1 HG00408.hp1 HG01256.hp2 HG01891.hp2 HG02040.hp1 HG02109.hp2 HG02145.hp2 HG02622.hp2 HG02809.hp2 HG02970.hp2 HG03471.hp2 HG03579.hp2 HG03688.hp2 HG06807.hp2 NA18949.hp2 NA18964.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp2 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0002t0001 a0001c0002t0005 a0001c0002t0012	a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0109 others(29): Show a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0003g0074 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0140 a0001c0001t0003g0148 a0001c0001t0011g0116 a0001c0001t0016g0117 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0114 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0005g0108 a0001c0002t0005g0188 a0001c0002t0012g0147	32	198	0.1616	27	c.124 others(46): Show c.124+29625_124+29626insCTAAATACAGGGGTATTTAGTTATAT C		PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6						chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02165.hp1 HG02015.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0321 a0001c0002t0001g0324 a0001c0002t0001g0321 a0001c0002t0001g0324	2	12	0.1667	27	c.-17 others(36): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding					133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01515.hp1 others(4): Show HG01081.hp1 HG01106.hp2 HG01515.hp1 HG03710.hp1 HG03942.hp2 NA18957.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 others(4): Show a0001c0001t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0004g0094	7	31	0.2258	27	c.353 others(42): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(20): Show TCCCCGCCCCCCCCACCCCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02622.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0017 a0001c0004t0001g0225 a0001c0001t0001g0017 a0001c0004t0001g0225	2	41	0.0488	27	c.940 others(42): Show c.940-710_940-709insCCCCCCACCCCCCCCCCACCCCCCGCC		PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA4_chr7_148998062_149033505	149017620	T T	TACATTTT others(20): Show TACATTTTATCAAAATAAAATTAAATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	76	0.0132	27	c.475 others(44): Show c.475+1371_475+1372insGTATTTAATTTTATTTTGATAAAATGT		PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	3/9						chr7	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	110	0.0091	27	c.248 others(44): Show c.248+1708_248+1709insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95256982	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0027 a0002c0003t0001g0027	1	327	0.0031	27	c.533 others(44): Show c.533+6881_533+6882insCTTTCTTTCTTTCTTTCTTTCTTTCTT		PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6						chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95257001	A A	AAGAAAAG others(20): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03669.hp1 NA19062.hp1 HG03225.hp2 HG03669.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0290 a0001c0002t0002g0312 a0001c0002t0002g0056 a0001c0002t0002g0290 a0001c0002t0002g0312	3	330	0.0091	27	c.533 others(44): Show c.533+6862_533+6863insCTTTTCTTTTCTTTTCTTTTCTTTTCT		PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6						chr10	TogoVar
PDLIM3_chr4_185495660_185540507	185497978	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0266 a0001c0002t0003g0266	1	24	0.0417	27	c.43 others(38): Show c.4315_*4316insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding					2681		chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94494432	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0215 a0001c0001t0031g0215	1	31	0.0323	27	c.97- others(44): Show c.97-29268_97-29267insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAGTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0162 a0001c0002t0003g0162	1	284	0.0035	27	c.139 others(44): Show c.139-2083_139-2082insAAAAACTTTTTTTTTTTTTTTTTTTTT		PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32						chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	117	0.0085	27	c.313 others(44): Show c.313-2864_313-2863insATATATATATATATATTTTTTTTTTTT		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34					INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0180 a0001c0001t0050g0180	1	212	0.0047	27	c.313 others(44): Show c.313-2864_313-2863insATATATATATATATATATATATATATA		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34						chr13	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01358.hp1 HG01928.hp2 others(16): Show HG01258.hp2 HG01358.hp1 HG01928.hp2 HG02056.hp1 HG02129.hp1 HG02155.hp1 HG02293.hp2 HG02602.hp1 HG03490.hp1 HG04204.hp2 NA18946.hp1 NA18949.hp1 NA18963.hp1 NA18990.hp1 NA19004.hp2 NA19012.hp1 NA19084.hp2 NA19086.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0071 a0001c0001t0001g0072 others(15): Show a0001c0001t0001g0020 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0208 a0001c0001t0001g0225 a0001c0001t0001g0257	19	78	0.2436	27	c.163 others(42): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS1_chr10_26692701_26751798	26746438	C C	CGACACCA others(20): Show CGACACCAGAAAGAACTGCCCATCATCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0006 a0005c0004t0006	a0005c0004t0006g0092 a0005c0004t0006g0092	1	414	0.0024	27	c.121 others(36): Show c.1213_1214insGACACCAGAAAGAACTGCCCATCATCA	p.Gln others(39): Show p.Gln405delinsArgHisGlnLysGluLeuProIleIleLys	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	12/12	1225/1584	1214/1248	405/415			chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02258.hp2 others(6): Show HG01884.hp1 HG01884.hp2 HG02258.hp2 HG02717.hp1 HG03098.hp2 HG03516.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0100 a0001c0001t0001g0239 a0001c0001t0001g0240 others(6): Show a0001c0001t0001g0100 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0003g0122 a0001c0001t0007g0146 a0001c0001t0007g0156 a0001c0001t0007g0230 a0001c0001t0007g0235 a0001c0001t0007g0241	9	65	0.1385	27	c.104 others(48): Show c.1042-18796_1042-18795insTTTTTTTTTTTTTTTTTTTTTTTT TTT		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225162	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	220	0.0045	27	c.703 others(46): Show c.703-12881_703-12880insTATATATATATATATATATATATATA T		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7						chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	107	0.0093	27	c.296 others(46): Show c.296+29088_296+29089insATATATATATATATATTTTTTTTTTT T		PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7						chr6	TogoVar

Search by Variant

Search

Search Results