JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAWR_chr12_79579879_79695964	79639833	C C	CATTCCTA others(23): Show CATTCCTATTCCTATTCCTATTCCTATTCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0183 a0002c0002t0005g0183	1	256	0.0039	30	c.517 others(49): Show c.517-18656_517-18627dupAGGAATAGGAATAGGAATAGGAATAG GAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79639881	T T	TATTCCTA others(23): Show TATTCCTATTCCTATTCCTATTCCTATTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0177 a0002c0002t0015g0177	1	256	0.0039	30	c.517 others(49): Show c.517-18675_517-18674insGGGAATAGGAATAGGAATAGGAATAG GAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX3_chr2_222194887_222303998	222244734	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	328	0.0031	30	c.587 others(49): Show c.587-12452_587-12451insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX5_chr9_36828269_37039268	36973083	C C	CGGAACGG others(23): Show CGGAACGGAACGGAACGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0259 a0001c0001t0038g0259	1	274	0.0037	30	c.605 others(47): Show c.605-6360_605-6359insTTTCCTTTCCTTTCCGTTCCGTTCCGTT CC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31814990	G G	GTCTCTCT others(23): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA18990.hp2 HG03130.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0003g0018 a0001c0001t0001g0070 a0001c0001t0003g0018	2	376	0.0053	30	c.-42 others(41): Show c.-4222_-4193dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		3669		chr11	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03098.hp1 HG03490.hp1 others(1): Show HG02293.hp2 HG03098.hp1 HG03490.hp1 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0002 a0002c0002t0002 a0003c0004t0002	a0002c0002t0002g0077 a0002c0002t0002g0082 a0003c0004t0002g0141 others(1): Show a0002c0002t0002g0077 a0002c0002t0002g0082 a0003c0004t0002g0141 a0003c0004t0002g0145	4	392	0.0102	30	c.595 others(47): Show c.595+4221_595+4222insTATATATATATATATATATATATATATA TA	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7			chr8	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	300	0.0033	30	c.108 others(49): Show c.1088-1943_1088-1942insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164773243	G G	GCACACAC others(23): Show GCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01099.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0100 a0001c0001t0001g0101	2	184	0.0109	30	c.266 others(49): Show c.266-19250_266-19221dupCACACACACACACACACACACACACA CACA	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125793366	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	294	0.0034	30	c.274 others(49): Show c.274+44769_274+44770insATATATATATATATATATATATATAT ATAT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125899203	T T	TTATAAAT others(23): Show TTATAAATATACATATGTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01346.hp1 others(5): Show HG00544.hp2 HG00609.hp2 HG01346.hp1 HG02083.hp2 HG02622.hp2 NA18747.hp1 NA18971.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0220 others(5): Show a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0220 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279	8	294	0.0272	30	c.275 others(49): Show c.275-16407_275-16378dupGTATATATATTTATATATAAATATAC ATAT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45646089	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	292	0.0034	30	c.-27 others(49): Show c.-279+2240_-279+2241insCTCTCTCTCTTTCTCTCTCTCTCTCT CTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45892471	G G	GGGGGGCG others(23): Show GGGGGGCGCGGTCCCGTCTCTGACGGGGCGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	292	0.0034	30	c.11- others(45): Show c.11-3732_11-3731insCGCGGTCCCGTCTCTGACGGGGCGTGGGGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909762	A A	ACCCCCCC others(23): Show ACCCCCCCCCACCCACTGCCCAGATACGGAC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0137 a0004c0007t0001g0137	1	292	0.0034	30	c.471 others(45): Show c.471+284_471+285insCACCCACTGCCCAGATACGGACCCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909941	C C	CCACTTCC others(23): Show CCACTTCCCAGATACGGACCCCCCCCACACA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	292	0.0034	30	c.471 others(45): Show c.471+479_471+480insCACACACACTTCCCAGATACGGACCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909958	A A	ACCCCCCC others(23): Show ACCCCCCCACACACACTTCCCAGATACGGAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0238 a0001c0001t0007g0238	1	292	0.0034	30	c.471 others(45): Show c.471+478_471+507dupCCACACACACTTCCCAGATACGGACCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
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	174	0.0115	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	a0001c0001t0001g0168 a0001c0001t0001g0168	1	174	0.0058	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	a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0163 a0001c0001t0001g0167	2	300	0.0067	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	a0001c0001t0001g0064 a0001c0001t0001g0064	1	300	0.0033	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	a0001c0001t0001g0207 a0001c0001t0001g0272 a0001c0001t0001g0207 a0001c0001t0001g0272	2	300	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	382	0.0026	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	a0001c0001t0001g0026 a0001c0001t0001g0055 a0001c0001t0001g0026 a0001c0001t0001g0055	2	154	0.0130	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	a0001c0001t0002g0062 a0001c0001t0004g0112 a0003c0005t0001g0025 a0001c0001t0002g0062 a0001c0001t0004g0112 a0003c0005t0001g0025	3	154	0.0195	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	154	0.0065	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	a0001c0001t0005g0056 a0001c0001t0005g0056	1	154	0.0065	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	a0001c0001t0001g0047 a0001c0001t0001g0047	1	154	0.0065	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	a0001c0001t0029 a0001c0002t0008 a0001c0001t0029 a0001c0002t0008	a0001c0001t0029g0024 a0001c0002t0008g0004 a0001c0001t0029g0024 a0001c0002t0008g0004	2	154	0.0130	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 a0001c0001t0001g0060 a0001c0001t0007g0017 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0060 a0001c0001t0007g0017 a0001c0001t0008g0045 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0005g0009	7	154	0.0455	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	a0001c0001t0001g0106 a0001c0001t0001g0106	1	154	0.0065	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	a0001c0001t0014g0067 a0001c0042t0016g0002 a0002c0002t0002g0037 a0001c0001t0014g0067 a0001c0042t0016g0002 a0002c0002t0002g0037	3	102	0.0294	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	a0021 a0035 a0021 a0035	a0021c0026 a0035c0025 a0021c0026 a0035c0025	a0021c0026t0008 a0035c0025t0007 a0021c0026t0008 a0035c0025t0007	a0021c0026t0008g0081 a0035c0025t0007g0079 a0021c0026t0008g0081 a0035c0025t0007g0079	2	102	0.0196	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	102	0.0098	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	a0001c0001t0003g0015 a0001c0001t0003g0015	1	102	0.0098	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	a0001c0001t0003g0087 a0001c0001t0003g0087	1	102	0.0098	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 a0011 a0023 a0037	a0001c0001 a0003c0003 a0004c0004 others(7): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005 a0007c0007 a0008c0032 a0010c0009 a0011c0017 a0023c0041 a0037c0018	a0001c0001t0001 a0003c0003t0003 a0004c0004t0001 others(8): Show a0001c0001t0001 a0003c0003t0003 a0004c0004t0001 a0005c0005t0005 a0007c0007t0022 a0008c0032t0001 a0010c0009t0011 a0010c0009t0012 a0011c0017t0002 a0023c0041t0006 a0037c0018t0001	a0001c0001t0001g0043 a0003c0003t0003g0056 a0004c0004t0001g0045 others(8): Show a0001c0001t0001g0043 a0003c0003t0003g0056 a0004c0004t0001g0045 a0005c0005t0005g0036 a0007c0007t0022g0075 a0008c0032t0001g0021 a0010c0009t0011g0078 a0010c0009t0012g0042 a0011c0017t0002g0072 a0023c0041t0006g0052 a0037c0018t0001g0004	11	102	0.1078	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	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0091 a0008c0010t0001g0091	1	102	0.0098	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 a0010 a0023 a0002 a0010 a0023	a0002c0002 a0010c0010 a0023c0048 a0002c0002 a0010c0010 a0023c0048	a0002c0002t0001 a0010c0010t0003 a0023c0048t0007 a0002c0002t0001 a0010c0010t0003 a0023c0048t0007	a0002c0002t0001g0034 a0010c0010t0003g0061 a0023c0048t0007g0002 a0002c0002t0001g0034 a0010c0010t0003g0061 a0023c0048t0007g0002	3	94	0.0319	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	a0017 a0031 a0017 a0031	a0017c0033 a0031c0032 a0017c0033 a0031c0032	a0017c0033t0001 a0031c0032t0001 a0017c0033t0001 a0031c0032t0001	a0017c0033t0001g0073 a0031c0032t0001g0072 a0017c0033t0001g0073 a0031c0032t0001g0072	2	94	0.0213	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	a0026 a0026	a0026c0026 a0026c0026	a0026c0026t0001 a0026c0026t0001	a0026c0026t0001g0056 a0026c0026t0001g0056	1	94	0.0106	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	a0001c0001t0001g0015 a0001c0001t0001g0015	1	94	0.0106	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	a0001c0007t0001g0079 a0001c0007t0001g0079	1	94	0.0106	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 a0009 a0011 a0019 a0027 a0033	a0001c0001 a0003c0003 a0004c0004 others(6): Show a0001c0001 a0003c0003 a0004c0004 a0005c0009 a0009c0014 a0011c0021 a0019c0047 a0027c0027 a0033c0022	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(6): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0005c0009t0001 a0009c0014t0001 a0011c0021t0001 a0019c0047t0001 a0027c0027t0008 a0033c0022t0001	a0001c0001t0001g0021 a0001c0001t0001g0040 a0003c0003t0001g0054 others(7): Show a0001c0001t0001g0021 a0001c0001t0001g0040 a0003c0003t0001g0054 a0004c0004t0001g0042 a0005c0009t0001g0033 a0009c0014t0001g0069 a0011c0021t0001g0066 a0019c0047t0001g0050 a0027c0027t0008g0039 a0033c0022t0001g0004	10	94	0.1064	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	a0001c0001t0001g0083 a0001c0001t0001g0083	1	94	0.0106	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	a0001c0001t0002g0097 a0001c0001t0002g0097	1	281	0.0036	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	a0001c0001t0002g0082 a0001c0001t0003g0058 a0001c0001t0003g0084 others(3): Show a0001c0001t0002g0082 a0001c0001t0003g0058 a0001c0001t0003g0084 a0001c0001t0005g0028 a0001c0001t0005g0045 a0001c0002t0001g0167	6	214	0.0280	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 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0020 a0001c0001t0021g0013 a0001c0001t0001g0020 a0001c0001t0021g0013	2	214	0.0094	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 a0001c0002t0016 a0001c0005t0022 others(1): Show a0001c0001t0001 a0001c0002t0016 a0001c0005t0022 a0002c0007t0001	a0001c0001t0001g0183 a0001c0002t0016g0148 a0001c0005t0022g0102 others(1): Show a0001c0001t0001g0183 a0001c0002t0016g0148 a0001c0005t0022g0102 a0002c0007t0001g0113	4	214	0.0187	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	80	0.0125	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	80	0.0125	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	80	0.0125	30	c.313 others(53): Show c.3138+123630_3138+123631insCACACACATATATGTGTATATA TATATATA	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	3/4			chr13	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)