Joint Open Genome and Omics Platform (JoGo)

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
EXT1_chr8_117789490_118116826	118113695	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	190	0.0053	26	c.-26 others(37): Show c.-2650_-2649insTATATATATATATATATATATATATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTATAT others(19): Show CTCTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0155 a0001c0001t0011g0155	1	190	0.0053	26	c.-26 others(37): Show c.-2650_-2649insTATATATATATATATATATATATAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0075 a0001c0001t0009g0075	1	190	0.0053	26	c.-26 others(37): Show c.-2650_-2649insTATATATATATATATATAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	190	0.0053	26	c.-26 others(37): Show c.-2650_-2649insTATATATATATATATAGAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT2_chr11_44090678_44256962	44119124	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	334	0.0030	26	c.743 others(43): Show c.743+4824_743+4825insTTATATATATATATATATATATATAT	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119137	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	334	0.0030	26	c.743 others(43): Show c.743+4861_743+4862insCATATATATATATATATATATATATA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0281 a0001c0001t0007g0281	1	334	0.0030	26	c.743 others(43): Show c.743+4869_743+4870insTATATATATATATATATATACACACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18612.hp2 NA18948.hp2 HG04115.hp1 NA18612.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004	a0001c0001t0003g0282 a0001c0002t0002g0168 a0001c0002t0004g0047 a0001c0001t0003g0282 a0001c0002t0002g0168 a0001c0002t0004g0047	3	334	0.0090	26	c.743 others(43): Show c.743+4869_743+4870insTATATATATATATATATATATACACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EYA2_chr20_46889843_47193844	46944690	A A	ACATATCT others(19): Show ACATATCTATGCCACAGATACAAAATT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18946.hp2 NA18954.hp2 others(4): Show NA18939.hp2 NA18946.hp2 NA18954.hp2 NA18970.hp2 NA18977.hp1 NA18990.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0003g0130 a0001c0002t0001g0126 a0001c0002t0001g0129 others(4): Show a0001c0001t0003g0130 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0003t0002g0128 a0001c0003t0002g0132 a0001c0004t0001g0127	7	238	0.0294	26	c.-10 others(45): Show c.-10-45308_-10-45307insATCTATGCCACAGATACAAAATTCAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987916	G G	GACTCTCT others(19): Show GACTCTCTCTCCCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	238	0.0042	26	c.-10 others(43): Show c.-10-2085_-10-2084insACTCTCTCTCCCTCTCTCTCTCTCTC	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15			chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	238	0.0042	26	c.-10 others(43): Show c.-10-2029_-10-2004dupATATATATATATATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTATAT others(19): Show CTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	238	0.0042	26	c.-10 others(43): Show c.-10-2036_-10-2035insCTATATATATATATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	238	0.0042	26	c.-10 others(43): Show c.-10-2036_-10-2035insCTCTCTCTCTCTATATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	238	0.0042	26	c.-10 others(43): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02622.hp1 HG00609.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0001 a0001c0001t0002 a0001c0009t0001	a0001c0001t0002g0084 a0001c0009t0001g0095 a0001c0001t0002g0084 a0001c0009t0001g0095	2	238	0.0084	26	c.-10 others(43): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	46987964	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	238	0.0042	26	c.-10 others(43): Show c.-10-2036_-10-2035insCTCTCTCTCTCTCTCTCTCTATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47136297	A A	ACTTCCAA others(19): Show ACTTCCAAGAACCAACATACCATTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01884.hp2 HG02451.hp2 others(18): Show HG00609.hp2 HG01884.hp2 HG02451.hp2 HG03927.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18963.hp2 NA18970.hp2 NA18977.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA19000.hp2 NA19004.hp2 NA19010.hp1 NA19066.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001	a0001c0001t0001g0117 a0001c0001t0002g0084 a0001c0001t0002g0151 others(18): Show a0001c0001t0001g0117 a0001c0001t0002g0084 a0001c0001t0002g0151 a0001c0001t0002g0210 a0001c0001t0003g0051 a0001c0002t0001g0003 a0001c0002t0001g0063 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0159 a0001c0002t0001g0162 a0001c0002t0001g0179 a0001c0002t0001g0205 a0001c0002t0001g0225 a0001c0003t0001g0080 a0001c0003t0003g0111 a0001c0004t0001g0001 a0001c0004t0001g0076 a0001c0004t0001g0123 a0001c0004t0001g0127	21	238	0.0882	26	c.889 others(43): Show c.889-6760_889-6759insTCCAAGAACCAACATACCATTTTCCT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47182628	T T	TCAAAAAA others(19): Show TCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG03139.hp1 others(1): Show HG02717.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0094 a0001c0002t0001g0026 a0001c0002t0001g0040 others(1): Show a0001c0001t0001g0094 a0001c0002t0001g0026 a0001c0002t0001g0040 a0001c0002t0001g0101	4	238	0.0168	26	c.143 others(43): Show c.1436-663_1436-662insCAAAAAAAAAAAAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	14/15			chr20	TogoVar
EYA3_chr1_27965344_28093610	28062657	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02056.hp1 HG01261.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0220 a0001c0001t0002g0205 a0001c0001t0002g0220	2	392	0.0051	26	c.-68 others(43): Show c.-68-4589_-68-4564dupACACACACACACACACACACACACAC	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073103	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19066.hp2 HG02258.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0281 a0001c0001t0010g0370 a0001c0001t0005g0281 a0001c0001t0010g0370	2	392	0.0051	26	c.-68 others(45): Show c.-68-15010_-68-15009insTATATATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073103	T T	TTCTATAT others(19): Show TTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	392	0.0026	26	c.-68 others(45): Show c.-68-15010_-68-15009insTATATATATATATATATATATATAGA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19062.hp2 NA19000.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0366 a0001c0001t0010g0367 a0001c0001t0010g0366 a0001c0001t0010g0367	2	392	0.0051	26	c.-68 others(45): Show c.-68-15034_-68-15033insAATATATATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	392	0.0026	26	c.-68 others(45): Show c.-68-15034_-68-15033insAAAAAAAATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0029 a0001c0001t0016g0029	1	392	0.0026	26	c.-68 others(45): Show c.-68-15034_-68-15033insAAAAAAAAAATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA4_chr6_133236357_133537128	133273097	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03486.hp1 NA18982.hp1 HG02717.hp2 HG03486.hp1 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0028 a0002c0002t0014 a0001c0001t0002 a0001c0001t0028 a0002c0002t0014	a0001c0001t0002g0098 a0001c0001t0028g0142 a0002c0002t0014g0130 a0001c0001t0002g0098 a0001c0001t0028g0142 a0002c0002t0014g0130	3	264	0.0114	26	c.-65 others(43): Show c.-65-1618_-65-1617insGTATATATATATATATATATATATAT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133294023	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18954.hp1 HG02074.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0033 a0001c0001t0019g0261 a0001c0001t0001g0033 a0001c0001t0019g0261	2	264	0.0076	26	c.33+ others(43): Show c.33+19225_33+19250dupTATATATATATATATATATATATATA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133294062	T T	TATATATA others(19): Show TATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03017.hp2 NA19030.hp2 HG01256.hp1 HG03017.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0106 a0001c0001t0001g0196 a0001c0001t0004g0152 a0001c0001t0001g0106 a0001c0001t0001g0196 a0001c0001t0004g0152	3	264	0.0114	26	c.33+ others(43): Show c.33+19250_33+19251insTATATATATATATATATATATAAAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYA4_chr6_133236357_133537128	133294062	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0100 a0001c0001t0047g0100	1	264	0.0038	26	c.33+ others(43): Show c.33+19250_33+19251insTATATATATATATATATATATATAAA	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
EYS_chr6_63714980_65712226	63727735	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG02886.hp2 HG02970.hp2	a0001 a0014 a0001 a0014	a0001c0009 a0014c0004 a0001c0009 a0014c0004	a0001c0009t0001 a0014c0004t0002 a0001c0009t0001 a0014c0004t0002	a0001c0009t0001g0012 a0014c0004t0002g0024 a0001c0009t0001g0012 a0014c0004t0002g0024	2	24	0.0833	26	c.807 others(45): Show c.8072-1056_8072-1055insATATATATATATATATATATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64085340	G G	GCGCACAC others(19): Show GCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0012 a0001c0009t0001g0012	1	24	0.0417	26	c.642 others(45): Show c.6425-3339_6425-3338insTGTGTGTGTGTGTGTGTGTGTGTGCG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65120460	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0005 a0016c0014t0001g0005	1	24	0.0417	26	c.202 others(47): Show c.2024-62734_2024-62733insTTTTTTTTTTTTTTTTTTTTTTTT TT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65231111	G G	GTATTTAT others(19): Show GTATTTATATATATATACTTTTATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0007 a0014 a0007 a0014	a0007c0018 a0014c0004 a0007c0018 a0014c0004	a0007c0018t0001 a0014c0004t0002 a0007c0018t0001 a0014c0004t0002	a0007c0018t0001g0007 a0014c0004t0002g0024 a0007c0018t0001g0007 a0014c0004t0002g0024	2	24	0.0833	26	c.202 others(47): Show c.2023+64726_2023+64751dupTATATAAAAGTATATATATATAAA TA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148810896	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0011 a0001c0009t0001g0011	1	380	0.0026	26	c.194 others(43): Show c.1948-508_1948-483dupTTTTTTTTTTTTTTTTTTTTTTTTTT	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	16/19			chr7	TogoVar
EZH2_chr7_148802383_148889291	148834360	C C	CATATATA others(19): Show CATATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0377 a0001c0003t0001g0377	1	380	0.0026	26	c.247 others(43): Show c.247-1611_247-1610insATATATATGTATATATATATATATAT	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	3/19			chr7	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGGGTGTG others(19): Show GGGGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01361.hp1 HG03704.hp2 HG00733.hp1 HG01361.hp1 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	3	295	0.0102	26	c.94 others(35): Show c.948_*949insGGGTGTGTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02809.hp1 others(3): Show HG02258.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0000 a0001c0013t0001g0000 a0001c0001t0001g0000 a0001c0013t0001g0000	6	295	0.0203	26	c.94 others(35): Show c.948_*949insGTGTGTGTGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01496.hp2 HG02698.hp1 others(12): Show HG00741.hp1 HG01496.hp2 HG02698.hp1 HG03491.hp1 HG03710.hp2 HG03834.hp2 NA18612.hp1 NA18942.hp2 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA18986.hp1 NA19001.hp1 NA19091.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0002t0001 a0004c0004t0003 a0010c0012t0002	a0001c0001t0001g0059 a0001c0001t0001g0129 a0001c0001t0001g0150 others(12): Show a0001c0001t0001g0059 a0001c0001t0001g0129 a0001c0001t0001g0150 a0001c0001t0001g0268 a0001c0001t0001g0285 a0001c0001t0002g0053 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0009t0001g0060 a0002c0002t0001g0120 a0002c0002t0001g0131 a0004c0004t0003g0019 a0004c0004t0003g0186 a0010c0012t0002g0255	15	292	0.0514	26	c.111 others(47): Show c.1112+11708_1112+11709insATATATATATATATATATATATAT AT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6238715	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20129.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0237 a0001c0001t0002g0223 a0001c0001t0002g0237	2	292	0.0069	26	c.798 others(43): Show c.798+9596_798+9597insATATATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	6/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6238715	C C	CATATATA others(19): Show CATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp2 HG02559.hp1 others(6): Show HG01081.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02965.hp1 HG02976.hp2 HG03209.hp1 HG03579.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0012	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0025 a0012c0027	a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 others(3): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0002 a0004c0004t0002 a0006c0025t0006 a0012c0027t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0002c0002t0002g0236 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0002c0002t0002g0236 a0003c0003t0002g0115 a0004c0004t0002g0074 a0004c0004t0002g0105 a0004c0004t0002g0275 a0006c0025t0006g0067 a0012c0027t0003g0112	9	292	0.0308	26	c.798 others(43): Show c.798+9596_798+9597insATACATATATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	6/14			chr6	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0019	1	306	0.0033	26	c.952 others(41): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169577560	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0153 a0003c0005t0003g0153	1	306	0.0033	26	c.250 others(43): Show c.250+4845_250+4870dupATATATATATATATATATATATATAT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105036	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG04204.hp1 HG02300.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0058 a0002c0002t0003g0071 a0002c0002t0003g0058 a0002c0002t0003g0071	2	400	0.0050	26	c.-80 others(35): Show c.-806_-805insATATATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		754		chr13	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03704.hp2 HG03688.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0028 a0002c0002t0003g0028	2	400	0.0050	26	c.-80 others(35): Show c.-804_-803insATATATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0300 a0001c0004t0001g0300	1	388	0.0026	26	c.271 others(43): Show c.271-1694_271-1693insCATATATATATATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FAAH2_chrX_57281706_57494193	57306994	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG01123.hp2 others(28): Show HG00558.hp2 HG00642.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01358.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02559.hp2 HG03041.hp2 HG03669.hp1 HG03710.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18969.hp1 NA18974.hp1 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19055.hp1 NA19072.hp1 NA19074.hp1 NA19080.hp1 NA19088.hp1 NA19090.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0008 a0001c0001 a0001c0002 a0007c0008	a0001c0001t0001 a0001c0002t0002 a0007c0008t0004 a0001c0001t0001 a0001c0002t0002 a0007c0008t0004	a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0030 others(28): Show a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0135 a0001c0002t0002g0142 a0001c0002t0002g0165 a0001c0002t0002g0168 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0210 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0007c0008t0004g0117	31	282	0.1099	26	c.276 others(43): Show c.276-3596_276-3595insTATATATATATATATATATATATATA	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FABP7_chr6_122774716_122789074	122776280	A A	ATCAATGG others(19): Show ATCAATGGATGAATGGATAAAGAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	480	0.0021	26	c.-35 others(37): Show c.-3515_-3514insTCAATGGATGAATGGATAAAGAAAAT	FABP7	ENSG00000164434.12	transcript	ENST00000368444.8	protein_coding		3435		chr6	TogoVar
FADS2_chr11_61823300_61872354	61824433	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	280	0.0036	26	c.-39 others(37): Show c.-3958_-3957insGAGAGAGAGAGAGAGAGAGAGAGAGC	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3866		chr11	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01496.hp2 others(15): Show HG00597.hp2 HG00609.hp1 HG01496.hp2 HG03831.hp2 NA18940.hp1 NA18951.hp2 NA18952.hp1 NA18970.hp1 NA18971.hp1 NA18986.hp2 NA18992.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19070.hp1 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0034 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0237 a0001c0001t0001g0244	18	280	0.0643	26	c.883 others(43): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAF1_chr1_50432028_50965267	50457724	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18955.hp1 NA19043.hp2 others(1): Show HG02572.hp2 NA18955.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 a0001c0001t0031	a0001c0001t0003g0022 a0001c0001t0016g0027 a0001c0001t0017g0019 others(1): Show a0001c0001t0003g0022 a0001c0001t0016g0027 a0001c0001t0017g0019 a0001c0001t0031g0180	4	190	0.0211	26	c.187 others(47): Show c.1870-16202_1870-16201insTTTTTTTTTTTTTTTTTTTTTTTT TT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	190	0.0053	26	c.126 others(47): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTCTCTCTAT AT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)