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
LRFN5_chr14_41601876_41909549	41734316	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01517.hp1 others(10): Show HG00639.hp1 HG00642.hp1 HG01517.hp1 HG01952.hp2 HG02004.hp2 HG02074.hp1 HG02132.hp2 HG02280.hp1 HG02486.hp1 HG02717.hp1 HG03130.hp2 HG03516.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0025 a0001c0007t0015	a0001c0001t0001g0037 a0001c0001t0001g0094 a0001c0001t0001g0105 others(10): Show a0001c0001t0001g0037 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0127 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0006g0278 a0001c0002t0001g0214 a0001c0002t0002g0015 a0001c0002t0002g0068 a0001c0002t0006g0275 a0001c0002t0025g0266 a0001c0007t0015g0211	13	280	0.0464	26	c.-19 others(47): Show c.-196-32534_-196-32509dupATATATATATATATATATATATAT AT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41734344	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0248 a0001c0002t0003g0248	1	280	0.0036	26	c.-19 others(47): Show c.-196-32509_-196-32508insATATATATATATATATATATATAT TT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41734344	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0209 a0001c0001t0008g0209	1	280	0.0036	26	c.-19 others(47): Show c.-196-32509_-196-32508insATATATATATATATATATATATTT TT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41856675	A A	ATTATTAT others(19): Show ATTATTATTATTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01928.hp1 HG02300.hp2 others(4): Show HG00741.hp2 HG01928.hp1 HG02300.hp2 HG02572.hp1 NA18974.hp2 NA19057.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0168 a0001c0002t0003g0251 a0001c0002t0003g0253 others(4): Show a0001c0002t0001g0168 a0001c0002t0003g0251 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0262	7	280	0.0250	26	c.-20 others(45): Show c.-20-29929_-20-29928insATTATTATTATTTTTTTTTTTTTTTT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41856675	A A	ATTATTAT others(19): Show ATTATTATTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18612.hp2 HG02896.hp1 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0004 a0001c0002t0003 a0001c0003t0004	a0001c0002t0003g0267 a0001c0003t0004g0133 a0001c0002t0003g0267 a0001c0003t0004g0133	2	280	0.0071	26	c.-20 others(45): Show c.-20-29929_-20-29928insATTATTATTTTTTTTTTTTTTTTTTT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41856675	A A	ATTATTAT others(19): Show ATTATTATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19002.hp1 NA18959.hp2 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0154 a0001c0002t0003g0229 a0001c0002t0001g0154 a0001c0002t0003g0229	2	280	0.0071	26	c.-20 others(45): Show c.-20-29929_-20-29928insATTATTTTTTTTTTTTTTTTTTTTTT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41856675	A A	ATTATTTT others(19): Show ATTATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19240.hp1 HG02155.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0234 a0001c0002t0004g0139 a0001c0002t0003g0234 a0001c0002t0004g0139	2	280	0.0071	26	c.-20 others(45): Show c.-20-29929_-20-29928insATTTTTTTTTTTTTTTTTTTTTTTTT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41879735	A A	ATATTTTC others(19): Show ATATTTTCTTCTATTAGTTTATATGTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp1 HG03486.hp2 HG02559.hp1 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0005t0023 a0001c0001t0009 a0001c0005t0023	a0001c0001t0009g0132 a0001c0001t0009g0140 a0001c0005t0023g0126 a0001c0001t0009g0132 a0001c0001t0009g0140 a0001c0005t0023g0126	3	280	0.0107	26	c.-20 others(43): Show c.-20-6869_-20-6868insTTTTCTTCTATTAGTTTATATGTTTA	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRGUK_chr7_134122340_134269595	134263403	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0041 a0001c0003t0004g0041	1	220	0.0046	26	c.234 others(43): Show c.2348-427_2348-426insGTCTGTGTGTGTGTGTGTGTGTGTGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRIF1_chr1_110942190_110968922	110957470	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02155.hp1 HG04199.hp1 others(2): Show HG01515.hp1 HG02155.hp1 HG04199.hp1 NA18985.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 others(2): Show a0001c0001t0003g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0218	5	446	0.0112	26	c.69- others(41): Show c.69-4656_69-4655insTTTTTTTTTTTTTTTTTTTTTTTTTT	LRIF1	ENSG00000121931.16	transcript	ENST00000369763.5	protein_coding	1/3			chr1	TogoVar
LRIG1_chr3_66373797_66506022	66408913	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18974.hp1 NA19085.hp1 HG02132.hp2 NA18974.hp1 NA19085.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0072 a0002c0001t0001g0143 a0002c0001t0001g0195 a0002c0001t0001g0072 a0002c0001t0001g0143 a0002c0001t0001g0195	3	264	0.0114	26	c.935 others(43): Show c.935+1190_935+1215dupACACACACACACACACACACACACAC	LRIG1	ENSG00000144749.14	transcript	ENST00000273261.8	protein_coding	7/18			chr3	TogoVar
LRIG1_chr3_66373797_66506022	66462810	G G	GGTGTCCT others(19): Show GGTGTCCTGGTCCAAATGCTTTGCTTA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0001 a0002c0048t0001	a0002c0048t0001g0099 a0002c0048t0001g0099	1	264	0.0038	26	c.219 others(41): Show c.219-302_219-301insTAAGCAAAGCATTTGGACCAGGACAC	LRIG1	ENSG00000144749.14	transcript	ENST00000273261.8	protein_coding	1/18			chr3	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCCTT others(19): Show CCTTCCTTCTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0118 a0004c0005t0006g0118	1	332	0.0030	26	c.117 others(43): Show c.117-1079_117-1078insCCTTCTTCTTTCTTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	332	0.0030	26	c.117 others(43): Show c.117-1082_117-1081insTTTCTTTCTTTCTTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3			chr4	TogoVar
LRMDA_chr10_75426624_76565168	75578215	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19030.hp1 HG02083.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0005 a0001c0002t0001g0017 a0001c0001t0006g0005 a0001c0002t0001g0017	2	46	0.0435	26	c.131 others(47): Show c.131+139745_131+139746insAAAAAAAAAAAAAAAAAAAAAAAA AA	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	75608129	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	46	0.0217	26	c.131 others(47): Show c.131+169636_131+169637insTATATATATATATATATATATACA CA	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76365107	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	46	0.0217	26	c.601 others(45): Show c.601+40623_601+40624insTATATATATATATATATATATACACA	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP11_chr6_149813757_149869359	149859377	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02155.hp1 HG03927.hp1 others(3): Show HG01243.hp2 HG02155.hp1 HG03927.hp1 NA18747.hp1 NA18977.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0001g0259 a0001c0001t0001g0272 others(3): Show a0001c0001t0001g0199 a0001c0001t0001g0259 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0002g0277	6	334	0.0180	26	c.613 others(43): Show c.613+4030_613+4031insATATATATATATATATATATATATAT	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRP11_chr6_149813757_149869359	149859396	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01257.hp2 others(5): Show HG00280.hp1 HG01069.hp1 HG01257.hp2 HG01358.hp2 HG03017.hp1 HG03710.hp2 NA18954.hp1 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(5): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0249 a0001c0001t0002g0178 a0002c0002t0001g0066 a0002c0002t0001g0067	8	334	0.0240	26	c.613 others(43): Show c.613+4011_613+4012insAATATATATATATATATATATATATA	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRP11_chr6_149813757_149869359	149859396	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0312 a0001c0004t0006g0312	1	334	0.0030	26	c.613 others(43): Show c.613+4011_613+4012insAAAAAATATATATATATATATATATA	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRP11_chr6_149813757_149869359	149859396	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0005 a0009c0016t0005	a0009c0016t0005g0308 a0009c0016t0005g0308	1	334	0.0030	26	c.613 others(43): Show c.613+4011_613+4012insAAAAAAAAAATATATATATATATATA	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRP11_chr6_149813757_149869359	149859396	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0028 a0002c0002t0003g0028	1	334	0.0030	26	c.613 others(43): Show c.613+4011_613+4012insAAAAAAAAAAAAAATATATATATATA	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRP12_chr8_104484236_104594258	104546985	T T	TTGTATAT others(19): Show TTGTATATAATATATAATTATATATTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02647.hp1 others(3): Show HG01243.hp1 HG02055.hp1 HG02647.hp1 HG03579.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0037 a0001c0003t0013g0038 a0001c0003t0013g0039 others(3): Show a0001c0003t0013g0037 a0001c0003t0013g0038 a0001c0003t0013g0039 a0001c0003t0013g0040 a0001c0003t0013g0041 a0001c0003t0013g0042	6	318	0.0189	26	c.80- others(43): Show c.80-15048_80-15023dupGAATATATAATTATATATTATATACA	LRP12	ENSG00000147650.12	transcript	ENST00000276654.10	protein_coding	1/6			chr8	TogoVar
LRP1B_chr2_140226423_142136016	140228210	T T	TTCCATAT others(19): Show TTCCATATATATAAATATATATATTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02145.hp2 HG02922.hp2 HG01261.hp2 HG02145.hp2 HG02922.hp2	a0001 a0001	a0001c0008 a0001c0019 a0001c0026 a0001c0008 a0001c0019 a0001c0026	a0001c0008t0001 a0001c0019t0001 a0001c0026t0001 a0001c0008t0001 a0001c0019t0001 a0001c0026t0001	a0001c0008t0001g0008 a0001c0019t0001g0016 a0001c0026t0001g0025 a0001c0008t0001g0008 a0001c0019t0001g0016 a0001c0026t0001g0025	3	28	0.1071	26	c.49 others(37): Show c.4975_*4976insGGAATATATATATTTATATATATGGA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding		3212		chr2	TogoVar
LRP1B_chr2_140226423_142136016	140623956	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0020 a0001c0028t0002g0020	1	28	0.0357	26	c.680 others(47): Show c.6800-22318_6800-22317insTATATATATATATATATATATATA TA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	41/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141103522	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19240.hp2 HG02723.hp1 NA19240.hp2	a0001 a0001	a0001c0011 a0001c0013 a0001c0011 a0001c0013	a0001c0011t0001 a0001c0013t0002 a0001c0011t0001 a0001c0013t0002	a0001c0011t0001g0014 a0001c0013t0002g0012 a0001c0011t0001g0014 a0001c0013t0002g0012	2	28	0.0714	26	c.101 others(47): Show c.1014-41250_1014-41249insGAGAGAGAGAGAGAGAGAGAGAGA GA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	7/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141131407	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0008 a0001c0008t0001g0008	1	28	0.0357	26	c.101 others(47): Show c.1013+57013_1013+57014insTATATATATATATATATATATATA TA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	7/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141517257	A A	AATACACA others(19): Show AATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0028 a0001c0010t0011g0028	1	28	0.0357	26	c.206 others(45): Show c.206-36725_206-36724insGTGTGTGTGTGTGTGTGTGTGTGTAT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141544304	C C	CTTCTTCT others(19): Show CTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	1	28	0.0357	26	c.206 others(45): Show c.206-63797_206-63772dupAAGAAGAAGAAGAAGAAGAAGAAGAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141544316	C C	CTTCTTCT others(19): Show CTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0022 a0001c0002t0010g0022	1	28	0.0357	26	c.206 others(45): Show c.206-63809_206-63784dupAAGAAGAAGAAGAAGAAGAAGAAGAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141544337	C C	CTTCTTCT others(19): Show CTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0012 a0001c0013t0002g0012	1	28	0.0357	26	c.206 others(45): Show c.206-63830_206-63805dupAAGAAGAAGAAGAAGAAGAAGAAGAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141691465	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp1 NA19240.hp1 HG02145.hp2 NA18522.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0001c0020 a0002c0006 a0001c0019 a0001c0020 a0002c0006	a0001c0019t0001 a0001c0020t0007 a0002c0006t0002 a0001c0019t0001 a0001c0020t0007 a0002c0006t0002	a0001c0019t0001g0016 a0001c0020t0007g0019 a0002c0006t0002g0023 a0001c0019t0001g0016 a0001c0020t0007g0019 a0002c0006t0002g0023	3	28	0.1071	26	c.205 others(47): Show c.205+118813_205+118814insGTGTGTGTGTGTGTGTGTGTGTGT GT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141753263	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02145.hp1 HG02559.hp1	a0001 a0001	a0001c0022 a0001c0023 a0001c0022 a0001c0023	a0001c0022t0004 a0001c0023t0003 a0001c0022t0004 a0001c0023t0003	a0001c0022t0004g0004 a0001c0023t0003g0001 a0001c0022t0004g0004 a0001c0023t0003g0001	2	28	0.0714	26	c.205 others(45): Show c.205+57015_205+57016insATATATATATATATATATATATATAT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141822130	C C	CACACAGA others(19): Show CACACAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0005 a0001c0012t0003g0005	1	28	0.0357	26	c.83- others(43): Show c.83-11730_83-11729insCTCTCTCTCTCTCTCTCTCTCTGTGT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	1/90			chr2	TogoVar
LRP2BP_chr4_185358872_185400924	185360950	T T	TATATATA others(19): Show TATATATATATATATATATATAGATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 NA18964.hp1 NA19079.hp2 HG02735.hp1 NA18964.hp1 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0017 a0001c0003t0011 a0001c0003t0017	a0001c0003t0011g0022 a0001c0003t0017g0025 a0001c0003t0017g0026 a0001c0003t0011g0022 a0001c0003t0017g0025 a0001c0003t0017g0026	3	348	0.0086	26	c.62 others(37): Show c.6229_*6230insCTATCTATATATATATATATATATAT	LRP2BP	ENSG00000109771.16	transcript	ENST00000505916.6	protein_coding		2921		chr4	TogoVar
LRP2BP_chr4_185358872_185400924	185375512	A A	ATATATAT others(19): Show ATATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19009.hp1 HG01884.hp2 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0026 a0001c0003t0009 a0001c0003t0026	a0001c0003t0009g0243 a0001c0003t0026g0066 a0001c0003t0009g0243 a0001c0003t0026g0066	2	348	0.0058	26	c.330 others(41): Show c.330+100_330+101insCATATATATATACATATATATATATA	LRP2BP	ENSG00000109771.16	transcript	ENST00000505916.6	protein_coding	4/8			chr4	TogoVar
LRP2BP_chr4_185358872_185400924	185388447	G G	GCCTACTA others(19): Show GCCTACTACCTATCAATCATCTACCTA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	348	0.0029	26	c.-22 others(43): Show c.-22+6331_-22+6332insTAGGTAGATGATTGATAGGTAGTAGG	LRP2BP	ENSG00000109771.16	transcript	ENST00000505916.6	protein_coding	1/8			chr4	TogoVar
LRP2_chr2_169122109_169367534	169160682	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0001 a0001c0075t0001	a0001c0075t0001g0102 a0001c0075t0001g0102	1	250	0.0040	26	c.118 others(47): Show c.11887+1789_11887+1790insTTTTTTTTTTTTTTTTTTTTTTTT TT	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	63/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169168018	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00673.hp2 others(11): Show HG00423.hp1 HG00438.hp2 HG00673.hp2 HG01257.hp1 HG01361.hp2 HG01884.hp1 HG02071.hp1 HG03491.hp2 HG03704.hp2 NA18953.hp2 NA18999.hp2 NA19043.hp2 NA19074.hp2 NA19088.hp1	a0001 a0002 a0008 others(6): Show a0001 a0002 a0008 a0014 a0016 a0029 a0032 a0040 a0070	a0001c0001 a0001c0009 a0001c0018 others(10): Show a0001c0001 a0001c0009 a0001c0018 a0002c0003 a0002c0152 a0002c0163 a0008c0020 a0014c0026 a0016c0037 a0029c0112 a0032c0038 a0040c0086 a0070c0177	a0001c0001t0004 a0001c0009t0001 a0001c0018t0001 others(10): Show a0001c0001t0004 a0001c0009t0001 a0001c0018t0001 a0002c0003t0001 a0002c0152t0001 a0002c0163t0001 a0008c0020t0011 a0014c0026t0005 a0016c0037t0001 a0029c0112t0001 a0032c0038t0017 a0040c0086t0005 a0070c0177t0001	a0001c0001t0004g0209 a0001c0009t0001g0024 a0001c0009t0001g0161 others(11): Show a0001c0001t0004g0209 a0001c0009t0001g0024 a0001c0009t0001g0161 a0001c0018t0001g0208 a0002c0003t0001g0196 a0002c0152t0001g0164 a0002c0163t0001g0195 a0008c0020t0011g0070 a0014c0026t0005g0010 a0016c0037t0001g0094 a0029c0112t0001g0080 a0032c0038t0017g0023 a0040c0086t0005g0148 a0070c0177t0001g0087	14	250	0.0560	26	c.116 others(45): Show c.11635+495_11635+520dupATATATATATATATATATATATATAT	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	61/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169326172	C C	CTCCCTCT others(19): Show CTCCCTCTCCCTCCCCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19030.hp2 HG02622.hp1 NA19030.hp2	a0043 a0066 a0043 a0066	a0043c0159 a0066c0124 a0043c0159 a0066c0124	a0043c0159t0005 a0066c0124t0010 a0043c0159t0005 a0066c0124t0010	a0043c0159t0005g0101 a0066c0124t0010g0035 a0043c0159t0005g0101 a0066c0124t0010g0035	2	250	0.0080	26	c.80- others(41): Show c.80-5289_80-5288insAGAGGGGAGAGGGGGAGGGAGAGGGA	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP5_chr11_68307591_68454275	68409071	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0001 a0001c0005t0001g0001	1	212	0.0047	26	c.209 others(43): Show c.2092-842_2092-841insTATATATATATATATATATATATATA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68409095	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0020 a0017c0022t0001g0020	1	212	0.0047	26	c.209 others(43): Show c.2092-818_2092-817insTATATATATATATATATATATATACA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRPPRC_chr2_43881224_44000989	43887143	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02080.hp1 NA18973.hp2 others(4): Show HG02027.hp1 HG02080.hp1 NA18973.hp2 NA19003.hp1 NA19004.hp1 NA19091.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0018 a0001c0001t0042 a0001c0001t0061 others(2): Show a0001c0001t0018 a0001c0001t0042 a0001c0001t0061 a0001c0003t0035 a0002c0006t0018	a0001c0001t0018g0145 a0001c0001t0018g0196 a0001c0001t0018g0331 others(4): Show a0001c0001t0018g0145 a0001c0001t0018g0196 a0001c0001t0018g0331 a0001c0001t0042g0176 a0001c0001t0061g0179 a0001c0003t0035g0339 a0002c0006t0018g0114	7	358	0.0196	26	c.14 others(37): Show c.1456_*1457insTTTTTTTTTTTTTTTTTTTTTTTTTT	LRPPRC	ENSG00000138095.20	transcript	ENST00000260665.12	protein_coding	38/38	1456		chr2	TogoVar
LRPPRC_chr2_43881224_44000989	43956478	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02293.hp2 NA18965.hp2 HG01978.hp1 HG02293.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0025 a0001c0001 a0001c0009 a0001c0025	a0001c0001t0011 a0001c0009t0056 a0001c0025t0011 a0001c0001t0011 a0001c0009t0056 a0001c0025t0011	a0001c0001t0011g0169 a0001c0009t0056g0168 a0001c0025t0011g0191 a0001c0001t0011g0169 a0001c0009t0056g0168 a0001c0025t0011g0191	3	358	0.0084	26	c.164 others(43): Show c.1649+881_1649+906dupACACACACACACACACACACACACAC	LRPPRC	ENSG00000138095.20	transcript	ENST00000260665.12	protein_coding	14/37			chr2	TogoVar
LRRC14B_chr5_186495_201334	196675	C C	CCGAGTGT others(19): Show CCGAGTGTGTCCCCACGTCACCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	470	0.0021	26	c.13 others(37): Show c.1322_*1323insCGAGTGTGTCCCCACGTCACCCCACT	LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding		342		chr5	TogoVar
LRRC18_chr10_48904480_48944840	48923496	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG06807.hp2 NA18522.hp2 HG02257.hp1 HG06807.hp2 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0006 a0003c0003 a0003c0005 a0002c0006 a0003c0003 a0003c0005	a0002c0006t0006 a0003c0003t0002 a0003c0005t0002 a0002c0006t0006 a0003c0003t0002 a0003c0005t0002	a0002c0006t0006g0270 a0003c0003t0002g0044 a0003c0005t0002g0340 a0002c0006t0006g0270 a0003c0003t0002g0044 a0003c0005t0002g0340	3	420	0.0071	26	c.-77 others(43): Show c.-77-9265_-77-9264insTATATATATATATATATATATATATA	LRRC18	ENSG00000165383.12	transcript	ENST00000374160.8	protein_coding	2/3			chr10	TogoVar
LRRC20_chr10_70293975_70387625	70301104	C C	CCTGAGTT others(19): Show CCTGAGTTTGCACAGCAGCTGTGAGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0357 a0001c0001t0037g0357	1	378	0.0027	26	c.22 others(35): Show c.224_*249dupCACTCACAGCTGCTGTGCAAACTCAG	LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	5/5	249		chr10	TogoVar
LRRC20_chr10_70293975_70387625	70304470	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	378	0.0027	26	c.401 others(43): Show c.401-2988_401-2963dupTATATATATATATATATATATATATA	LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	4/4			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358447	C C	CAGCGTAG others(19): Show CAGCGTAGGGAGGAGCCGAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01346.hp1 others(4): Show HG00140.hp2 HG01070.hp2 HG01346.hp1 HG01361.hp2 HG04228.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0006 a0002c0004t0010 a0002c0004t0022 a0001c0003t0006 a0002c0004t0010 a0002c0004t0022	a0001c0003t0006g0098 a0002c0004t0010g0013 a0002c0004t0010g0014 others(4): Show a0001c0003t0006g0098 a0002c0004t0010g0013 a0002c0004t0010g0014 a0002c0004t0010g0015 a0002c0004t0010g0016 a0002c0004t0010g0017 a0002c0004t0022g0012	7	290	0.0241	26	c.117 others(45): Show c.1170+2566_1170+2567insAGGGAGGAGCCGAGGTGGTGGAGCGT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358543	G G	GAGGAGCC others(19): Show GAGGAGCCGAGGTGGTGGAGCGTGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01123.hp1 others(4): Show HG00280.hp1 HG00642.hp1 HG01123.hp1 HG01168.hp1 HG01515.hp1 HG01981.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0020 a0001c0002t0004 a0001c0002t0020	a0001c0002t0004g0215 a0001c0002t0004g0216 a0001c0002t0004g0250 others(4): Show a0001c0002t0004g0215 a0001c0002t0004g0216 a0001c0002t0004g0250 a0001c0002t0004g0251 a0001c0002t0004g0252 a0001c0002t0004g0253 a0001c0002t0020g0213	7	290	0.0241	26	c.117 others(45): Show c.1170+2677_1170+2678insGTGGGAAGGAGCCGAGGTGGTGGAGC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)