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
PCCA_chr13_100084093_100535435	100341957	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19240.hp1 HG01884.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0056 a0001c0001t0001g0057	2	65	0.0308	30	c.164 others(49): Show c.1643+1723_1643+1724insATATATATATATATATATATATATAT ATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100341973	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	131	0.0076	30	c.164 others(49): Show c.1643+1723_1643+1724insATATATATATATATATATATGTATAT ATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp2 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0162 a0001c0001t0001g0166	2	235	0.0085	30	c.543 others(47): Show c.543+2376_543+2377insGTATATATATATATATATATATATATAT AT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136268096	A A	ATATGTAT others(23): Show ATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	279	0.0036	30	c.543 others(47): Show c.543+6034_543+6035insGTATATATATATATATATATATATATGT AT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136299460	G G	GTATGTAT others(23): Show GTATGTATAGGTATGCATGTGTATGTATGTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02965.hp1 HG02896.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0273 a0001c0001t0001g0206 a0001c0001t0001g0273	2	298	0.0067	30	c.884 others(47): Show c.884+1393_884+1422dupTATAGGTATGCATGTGTATGTATGTATA TG	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH10_chr4_133144294_133199700	133184773	A A	AATATATA others(23): Show AATATATATATATAAATATATATATTTATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	131	0.0076	30	c.310 others(49): Show c.3104-5357_3104-5356insTAAATATATATATTTATATATATATA TATA	PCDH10	ENSG00000138650.9	transcript	ENST00000264360.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH11X_chrX_91774375_92628230	91945048	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19088.hp1 HG02074.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0116 a0001c0001t0001g0025 a0001c0001t0001g0116	2	64	0.0313	30	c.303 others(51): Show c.3033+65795_3033+65796insATATATATATATATATATATATAT ATATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92208508	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG04228.hp1 NA18949.hp1 HG01069.hp1 HG04228.hp1 NA18949.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0003c0005t0001 a0001c0001t0002 a0001c0001t0004 a0003c0005t0001	a0001c0001t0002g0061 a0001c0001t0004g0112 a0003c0005t0001g0024 a0001c0001t0002g0061 a0001c0001t0004g0112 a0003c0005t0001g0024	3	15	0.2000	30	c.311 others(49): Show c.3114+7082_3114+7083insTATATATATATATATATATATATATA TATA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	28	0.0357	30	c.314 others(51): Show c.3145-61095_3145-61094insTATATATATATAGAGAGAGAGAGA GAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	28	0.0357	30	c.314 others(51): Show c.3145-61095_3145-61094insTATATATATATATAGAGAGAGAGA GAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	28	0.0357	30	c.314 others(51): Show c.3145-61095_3145-61094insTATATATATATATATAGAGAGAGA GAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92326639	T T	TATATATA others(23): Show TATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp1 HG02055.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0008 a0001c0001t0026 a0001c0002t0008	a0001c0001t0026g0023 a0001c0002t0008g0008 a0001c0001t0026g0023 a0001c0002t0008g0008	2	29	0.0690	30	c.314 others(51): Show c.3145-61095_3145-61094insTATATATATATATATATAGAGAGA GAGAGA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92331279	T T	TTTCTTCT others(23): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02602.hp1 HG02630.hp2 others(4): Show HG02486.hp1 HG02602.hp1 HG02630.hp2 HG03017.hp1 HG03195.hp2 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0001t0007g0017 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0001t0007g0017 a0001c0001t0008g0049 a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0002t0005g0009	7	68	0.1029	30	c.314 others(51): Show c.3145-56446_3145-56417dupTTCTTCTTCTTCTTCTTCTTCTTC TTCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	19	0.0526	30	c.314 others(51): Show c.3145-12568_3145-12567insATATATATATATATATATATATTT TTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	53855904	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG04184.hp1 NA20129.hp2 HG01069.hp1 HG04184.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0042 a0002c0002 a0001c0001 a0001c0042 a0002c0002	a0001c0001t0014 a0001c0042t0016 a0002c0002t0002 a0001c0001t0014 a0001c0042t0016 a0002c0002t0002	a0001c0001t0014g0070 a0001c0042t0016g0002 a0002c0002t0002g0036 a0001c0001t0014g0070 a0001c0042t0016g0002 a0002c0002t0002g0036	3	24	0.1250	30	c.380 others(49): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53964372	A A	AAAAATTT others(23): Show AAAAATTTATTTATAAATTTTATTTATTCAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp1 HG03225.hp2 HG03486.hp1	a0029 a0030 a0029 a0030	a0029c0026 a0030c0025 a0029c0026 a0030c0025	a0029c0026t0008 a0030c0025t0007 a0029c0026t0008 a0030c0025t0007	a0029c0026t0008g0082 a0030c0025t0007g0079 a0029c0026t0008g0082 a0030c0025t0007g0079	2	100	0.0200	30	c.286 others(49): Show c.2869-2510_2869-2481dupATGAATAAATAAAATTTATAAATAAA TTTT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	21/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54380643	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0060 a0003c0003t0019g0060	1	21	0.0476	30	c.158 others(47): Show c.158-1702_158-1701insTATATATATATATATATATATATATATA TA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	14	0.0714	30	c.-28 others(49): Show c.-28-67274_-28-67273insGCATATATATATATATATATATATAT ATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54731563	T T	TATATATA others(23): Show TATATATATATATATATATATATATGCACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	14	0.0714	30	c.-28 others(49): Show c.-28-67274_-28-67273insGTGTGCATATATATATATATATATAT ATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54804927	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01175.hp1 HG01934.hp1 others(8): Show HG00738.hp2 HG01175.hp1 HG01934.hp1 HG02896.hp1 HG03130.hp2 HG03139.hp2 HG03492.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0007 a0008 a0010 a0027 a0031 a0035	a0001c0001 a0003c0003 a0004c0004 others(7): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005 a0007c0032 a0008c0007 a0010c0009 a0027c0018 a0031c0017 a0035c0041	a0001c0001t0001 a0003c0003t0003 a0004c0004t0001 others(8): Show a0001c0001t0001 a0003c0003t0003 a0004c0004t0001 a0005c0005t0005 a0007c0032t0001 a0008c0007t0022 a0010c0009t0011 a0010c0009t0012 a0027c0018t0001 a0031c0017t0002 a0035c0041t0006	a0001c0001t0001g0042 a0003c0003t0003g0050 a0004c0004t0001g0045 others(8): Show a0001c0001t0001g0042 a0003c0003t0003g0050 a0004c0004t0001g0045 a0005c0005t0005g0033 a0007c0032t0001g0021 a0008c0007t0022g0075 a0010c0009t0011g0078 a0010c0009t0012g0046 a0027c0018t0001g0004 a0031c0017t0002g0072 a0035c0041t0006g0053	11	26	0.4231	30	c.-40 others(41): Show c.-4032_-4031insTATATATATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding		3697		chr10	TogoVar
PCDH15_chr10_53797771_54806231	54804948	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0092 a0007c0010t0001g0092	1	97	0.0103	30	c.-40 others(41): Show c.-4053_-4052insGTATATATATATATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding		3718		chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855904	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG04184.hp2 NA20129.hp2 HG01069.hp2 HG04184.hp2 NA20129.hp2	a0002 a0007 a0030 a0002 a0007 a0030	a0002c0002 a0007c0010 a0030c0047 a0002c0002 a0007c0010 a0030c0047	a0002c0002t0001 a0007c0010t0003 a0030c0047t0007 a0002c0002t0001 a0007c0010t0003 a0030c0047t0007	a0002c0002t0001g0033 a0007c0010t0003g0064 a0030c0047t0007g0002 a0002c0002t0001g0033 a0007c0010t0003g0064 a0030c0047t0007g0002	3	23	0.1304	30	c.380 others(49): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53964372	A A	AAAAATTT others(23): Show AAAAATTTATTTATAAATTTTATTTATTCAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp1 HG03225.hp2 HG03486.hp1	a0022 a0023 a0022 a0023	a0022c0032 a0023c0031 a0022c0032 a0023c0031	a0022c0032t0001 a0023c0031t0001 a0022c0032t0001 a0023c0031t0001	a0022c0032t0001g0074 a0023c0031t0001g0072 a0022c0032t0001g0074 a0023c0031t0001g0072	2	92	0.0217	30	c.286 others(49): Show c.2869-2510_2869-2481dupATGAATAAATAAAATTTATAAATAAA TTTT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	21/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54380643	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0001 a0025c0025t0001	a0025c0025t0001g0056 a0025c0025t0001g0056	1	18	0.0556	30	c.158 others(47): Show c.158-1702_158-1701insTATATATATATATATATATATATATATA TA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54731563	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	13	0.0769	30	c.-28 others(49): Show c.-28-67274_-28-67273insGCATATATATATATATATATATATAT ATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54731563	T T	TATATATA others(23): Show TATATATATATATATATATATATATGCACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0080 a0001c0007t0001g0080	1	13	0.0769	30	c.-28 others(49): Show c.-28-67274_-28-67273insGTGTGCATATATATATATATATATAT ATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54804927	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01934.hp1 others(7): Show HG00738.hp1 HG01175.hp2 HG01934.hp1 HG03130.hp2 HG03139.hp2 HG03492.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0010 a0019 a0020 a0024 a0029	a0001c0001 a0003c0003 a0004c0004 others(6): Show a0001c0001 a0003c0003 a0004c0004 a0005c0009 a0010c0014 a0019c0026 a0020c0022 a0024c0021 a0029c0046	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(6): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0005c0009t0001 a0010c0014t0001 a0019c0026t0008 a0020c0022t0001 a0024c0021t0001 a0029c0046t0001	a0001c0001t0001g0021 a0001c0001t0001g0039 a0003c0003t0001g0047 others(7): Show a0001c0001t0001g0021 a0001c0001t0001g0039 a0003c0003t0001g0047 a0004c0004t0001g0042 a0005c0009t0001g0030 a0010c0014t0001g0069 a0019c0026t0008g0043 a0020c0022t0001g0004 a0024c0021t0001g0066 a0029c0046t0001g0050	10	24	0.4167	30	c.-40 others(41): Show c.-4032_-4031insTATATATATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding		3697		chr10	TogoVar
PCDH15_chr10_53816099_54806231	54804948	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	89	0.0112	30	c.-40 others(41): Show c.-4053_-4052insGTATATATATATATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding		3718		chr10	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	180	0.0056	30	c.284 others(51): Show c.2848+19037_2848+19038insAATATATATATATATATATATATA TATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH7_chr4_30715369_31151800	30974246	C C	CTTCCTTT others(23): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02015.hp1 HG03831.hp2 others(3): Show HG00673.hp2 HG02015.hp1 HG03831.hp2 NA18990.hp2 NA18999.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0002g0090 a0001c0001t0003g0082 a0001c0001t0003g0092 others(3): Show a0001c0001t0002g0090 a0001c0001t0003g0082 a0001c0001t0003g0092 a0001c0001t0005g0038 a0001c0001t0005g0045 a0001c0002t0001g0167	6	103	0.0583	30	c.339 others(51): Show c.3391+53905_3391+53906insCTTTCCTTTCCTTTCCTTTCCTTT CCTTTC	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31074784	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG02615.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0020 a0001c0001t0020g0013 a0001c0001t0001g0020 a0001c0001t0020g0013	2	41	0.0488	30	c.339 others(51): Show c.3392-67666_3392-67665insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31150365	A A	ATTTTTCT others(23): Show ATTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG04199.hp1 NA19090.hp2 others(1): Show HG03486.hp2 HG04199.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0001c0005t0021 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0021 a0002c0007t0001	a0001c0001t0001g0192 a0001c0002t0001g0137 a0001c0005t0021g0102 others(1): Show a0001c0001t0001g0192 a0001c0002t0001g0137 a0001c0005t0021g0102 a0002c0007t0001g0114	4	89	0.0449	30	c.75 others(41): Show c.7516_*7517insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding		3566		chr4	TogoVar
PCDH9_chr13_66297834_67235336	66681950	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0079 a0001c0001t0008g0079	1	24	0.0417	30	c.313 others(51): Show c.3139-50540_3139-50539insATATATATATATATATATATATAT ATATAT	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar
PCDH9_chr13_66297834_67235336	66713625	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	5	0.2000	30	c.313 others(51): Show c.3139-82215_3139-82214insTATATATATATATATATATATATA CACACA	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar
PCDH9_chr13_66297834_67235336	66779873	A A	ATATATAT others(23): Show ATATATATATATATACACATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0015 a0003c0013t0002g0015	1	11	0.0909	30	c.313 others(53): Show c.3138+123630_3138+123631insCACACACATATATGTGTATATA TATATATA	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar
PCDH9_chr13_66297834_67235336	67214935	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	11	0.0909	30	c.303 others(51): Show c.3036+10440_3036+10469dupATATATATATATATATATATATAT ATATAT	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	2/4			chr13	TogoVar
PCDH9_chr13_66297834_67235336	67216683	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	16	0.0625	30	c.303 others(49): Show c.3036+8721_3036+8722insATATATATATATATATATATATATAT ATAT	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	2/4			chr13	TogoVar
PCDHA10_chr5_140850897_141017347	140946611	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02145.hp1 HG02451.hp2 HG01978.hp1 HG02145.hp1 HG02451.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0019 a0002c0002t0001g0094 a0004c0004t0001g0005 a0001c0001t0001g0019 a0002c0002t0001g0094 a0004c0004t0001g0005	3	215	0.0140	30	c.238 others(51): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATA	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA10_chr5_140850897_141017347	140946631	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02970.hp1 others(1): Show HG01884.hp2 HG02486.hp1 HG02970.hp1 HG03516.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0003 a0002c0002t0003 a0005c0005t0001 a0001c0001t0003 a0002c0002t0003 a0005c0005t0001	a0001c0001t0003g0243 a0002c0002t0003g0075 a0005c0005t0001g0078 others(1): Show a0001c0001t0003g0243 a0002c0002t0003g0075 a0005c0005t0001g0078 a0005c0005t0001g0079	4	131	0.0305	30	c.238 others(51): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TACACA	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA10_chr5_140850897_141017347	140946631	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0026 a0003c0003t0001g0026	1	128	0.0078	30	c.238 others(51): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATACA	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140946611	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02145.hp2 HG02451.hp2 HG01978.hp1 HG02145.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0002t0001g0154 a0001c0001t0001g0104 a0001c0001t0001g0119 a0001c0002t0001g0154	3	215	0.0140	30	c.239 others(51): Show c.2392-32317_2392-32316insTATATATATATATATATATATATA TATATA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140946631	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02970.hp2 others(1): Show HG01884.hp1 HG02486.hp1 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0009 a0001c0001t0003g0253 a0001c0002t0001g0158 others(1): Show a0001c0001t0003g0009 a0001c0001t0003g0253 a0001c0002t0001g0158 a0001c0002t0001g0159	4	135	0.0296	30	c.239 others(51): Show c.2392-32317_2392-32316insTATATATATATATATATATATATA TACACA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140946631	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	132	0.0076	30	c.239 others(51): Show c.2392-32317_2392-32316insTATATATATATATATATATATATA TATACA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140946611	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02145.hp1 HG02451.hp1 HG01978.hp1 HG02145.hp1 HG02451.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0108 a0001c0001t0001g0256 a0004c0007t0001g0132 a0001c0001t0001g0108 a0001c0001t0001g0256 a0004c0007t0001g0132	3	215	0.0140	30	c.236 others(51): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TATATA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140946631	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02970.hp2 others(1): Show HG01884.hp1 HG02486.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0003 a0001c0001t0003g0030 a0001c0002t0001g0127 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0030 a0001c0002t0001g0127 a0001c0002t0001g0128	4	133	0.0301	30	c.236 others(51): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TACACA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140946631	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	130	0.0077	30	c.236 others(51): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TATACA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140946611	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02145.hp2 HG02451.hp2 HG01978.hp1 HG02145.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0117 a0001c0001t0001g0137 a0001c0003t0001g0255 a0001c0001t0001g0117 a0001c0001t0001g0137 a0001c0003t0001g0255	3	213	0.0141	30	c.239 others(51): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140946631	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02970.hp1 others(1): Show HG01884.hp2 HG02486.hp1 HG02970.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0003g0027 a0001c0002t0003g0081 a0001c0004t0001g0140 others(1): Show a0001c0002t0003g0027 a0001c0002t0003g0081 a0001c0004t0001g0140 a0001c0004t0001g0141	4	130	0.0308	30	c.239 others(51): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TACACA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140946631	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	127	0.0079	30	c.239 others(51): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATACA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140946611	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02145.hp2 HG02451.hp2 HG01978.hp1 HG02145.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0095	3	162	0.0185	30	c.239 others(51): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATA	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results