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.

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
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18939.hp2 NA19063.hp1 HG01123.hp2 NA18939.hp2 NA19063.hp1	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0002 a0007c0014 a0014c0039 a0001c0002 a0007c0014 a0014c0039	a0001c0002t0002 a0007c0014t0002 a0014c0039t0002 a0001c0002t0002 a0007c0014t0002 a0014c0039t0002	a0001c0002t0002g0023 a0007c0014t0002g0086 a0014c0039t0002g0083 a0001c0002t0002g0023 a0007c0014t0002g0086 a0014c0039t0002g0083	3	308	0.0097	36	c.419 others(55): Show c.419-25551_419-25550insGTGTGTGTATATATATATATATATAT ATATATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03239.hp1 NA19081.hp1 others(2): Show HG00609.hp1 HG03239.hp1 NA19081.hp1 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0015 a0001c0002t0002 a0001c0002t0015	a0001c0002t0002g0035 a0001c0002t0002g0063 a0001c0002t0002g0068 others(2): Show a0001c0002t0002g0035 a0001c0002t0002g0063 a0001c0002t0002g0068 a0001c0002t0002g0092 a0001c0002t0015g0047	5	308	0.0162	36	c.419 others(55): Show c.419-25551_419-25550insGTGTGTGTGTATATATATATATATAT ATATATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	308	0.0033	36	c.419 others(55): Show c.419-25551_419-25550insGTGTGTGTGTGTGTATATATATATAT ATATATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149785	T T	TCTCCTCC others(29): Show TCTCCTCCTCACACACCACACAGCTCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0005 a0004c0007t0005	a0004c0007t0005g0223 a0004c0007t0005g0223	1	308	0.0033	36	c.69 others(47): Show c.6995_*6996insCTCCTCCTCACACACCACACAGCTCACACCCCTC TC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4194		chr1	TogoVar
LAMC3_chr9_131004174_131099473	131032506	C C	CGCTCTCT others(29): Show CGCTCTCTCTCTCTTGCTCTCTCTCGCTGTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0105 a0001c0004t0001g0105	1	360	0.0028	36	c.809 others(51): Show c.809+366_809+367insTGCTCTCTCTCTCTTGCTCTCTCTCGCTGT CTCTCT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0031 a0001c0003t0002g0031	1	372	0.0027	36	c.888 others(53): Show c.888+2800_888+2801insATATATATATATATATATATATATATAT ATATTTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP5_chr20_9509590_9535524	9517621	A A	ATGTGTGT others(29): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18939.hp1 NA19002.hp2 HG00544.hp1 NA18939.hp1 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0338 a0002c0002t0002g0052 a0002c0002t0002g0338	3	448	0.0067	36	c.476 others(51): Show c.476-404_476-403insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
LAP3_chr4_17572198_17612970	17580165	C C	CATATATA others(29): Show CATATATATGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02258.hp1 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0215 a0001c0005t0006g0216 a0001c0005t0006g0215 a0001c0005t0006g0216	2	300	0.0067	36	c.218 others(51): Show c.218+234_218+235insGTATATATATATATATATATATATATATAT ATATAT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0206 a0001c0005t0003g0206	1	300	0.0033	36	c.218 others(51): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATATGT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(29): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	380	0.0026	36	c.603 others(53): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33922270	C C	CTGGTGGG others(29): Show CTGGTGGGGTGGGGGGTGGGGGGTGGGGGGTGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0107 a0001c0003t0032g0107	1	110	0.0091	36	c.-23 others(47): Show c.-2359_-2358insCCCCCCACCCCCCACCCCCCACCCCCCACCCCAC CA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding		1795		chr22	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	336	0.0030	36	c.813 others(51): Show c.813+418_813+419insGTGTATATATATATATATATATATATATAT ATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	336	0.0030	36	c.813 others(51): Show c.813+418_813+419insGTGTGTATATATATATATATATATATATAT ATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0258 a0001c0001t0007g0258	1	336	0.0030	36	c.813 others(51): Show c.813+418_813+419insGTGTGTGTGTATATATATATATATATATAT ATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19064.hp2 HG03669.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0018 a0002c0002t0002g0013 a0002c0002t0002g0018	2	336	0.0060	36	c.988 others(53): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1_chr5_154750377_154822605	154795986	T T	TTATATAT others(29): Show TTATATATTTTTATATATATTATATATTTATATATTA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	304	0.0033	36	c.137 others(53): Show c.1377+709_1377+744dupATTTTTATATATATTATATATTTATATA TTATATAT	LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
LARP4_chr12_50395885_50485004	50446364	T T	TCTCTCTC others(29): Show TCTCTCTCCCCCCCCTTCCCCTCCCCCTCCCCCTCTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	318	0.0031	36	c.804 others(53): Show c.804+4728_804+4729insCCCCCCCTTCCCCTCCCCCTCCCCCTCT CCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446368	T T	TCTCTCCC others(29): Show TCTCTCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	318	0.0031	36	c.804 others(53): Show c.804+4730_804+4731insCCCCCCCCTTCCCCTCCCCCTCCCCCTC TCCCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0193 a0001c0003t0002g0193	1	242	0.0041	36	c.101 others(55): Show c.1019-1061_1019-1060insAAAAAATATATATATATATATATATA TATATATATA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	242	0.0041	36	c.101 others(55): Show c.1019-1061_1019-1060insAATATATATATATATATATATATATA TATATATATA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LATS2_chr13_20968036_21066586	21050125	C C	CAGACAGA others(29): Show CAGACAGACAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0014 a0004c0004t0014	a0004c0004t0014g0299 a0004c0004t0014g0299	1	316	0.0032	36	c.-20 others(55): Show c.-204-3896_-204-3895insATCTATCTATCTATCTATCTATCTAT CTGTCTGTCT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050147	G G	GATAGATA others(29): Show GATAGATAGATACATACATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19084.hp1 NA19085.hp2 others(1): Show NA19011.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0237 others(1): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0237 a0001c0001t0001g0238	4	316	0.0127	36	c.-20 others(55): Show c.-204-3918_-204-3917insGTATGTATGTATGTATGTATGTATGT ATCTATCTAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050147	G G	GATAGATA others(29): Show GATAGATAGATAGATACATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp2 NA19005.hp2 HG00438.hp2 HG02056.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0220 a0001c0001t0001g0279 a0002c0002t0003g0142 a0001c0001t0001g0220 a0001c0001t0001g0279 a0002c0002t0003g0142	3	316	0.0095	36	c.-20 others(55): Show c.-204-3918_-204-3917insGTATGTATGTATGTATGTATGTATCT ATCTATCTAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050147	G G	GATAGATA others(29): Show GATAGATAGATAGATAGATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00639.hp2 others(7): Show HG00099.hp2 HG00280.hp2 HG00639.hp2 HG01071.hp1 HG01175.hp1 HG01258.hp2 HG02683.hp2 HG02738.hp1 HG03834.hp1 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0006 a0003c0003 others(1): Show a0001c0001 a0002c0006 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0006t0004 a0003c0003t0002 others(2): Show a0001c0001t0001 a0002c0006t0004 a0003c0003t0002 a0004c0004t0005 a0004c0004t0021	a0001c0001t0001g0248 a0001c0001t0001g0252 a0002c0006t0004g0258 others(7): Show a0001c0001t0001g0248 a0001c0001t0001g0252 a0002c0006t0004g0258 a0003c0003t0002g0255 a0004c0004t0005g0002 a0004c0004t0005g0247 a0004c0004t0005g0253 a0004c0004t0005g0256 a0004c0004t0005g0257 a0004c0004t0021g0254	10	316	0.0317	36	c.-20 others(55): Show c.-204-3918_-204-3917insGTATGTATGTATGTATGTATCTATCT ATCTATCTAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050147	G G	GATAGATA others(29): Show GATAGATAGATAGATAGATAGATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01361.hp2 HG00738.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0263 a0001c0001t0001g0208 a0001c0001t0001g0263	2	316	0.0063	36	c.-20 others(55): Show c.-204-3918_-204-3917insGTATGTATGTATGTATCTATCTATCT ATCTATCTAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LAX1_chr1_203760183_203781372	203770433	A A	AAGAGAGA others(29): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	422	0.0024	36	c.90- others(49): Show c.90-374_90-373insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LBP_chr20_38341482_38382013	38344722	G G	GCTTAACG others(29): Show GCTTAACGTGGGACATTCTGATCTTAACCTCAGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	394	0.0025	36	c.-17 others(47): Show c.-1795_-1794insCTTAACGTGGGACATTCTGATCTTAACCTCAGTG CC	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding		1759		chr20	TogoVar
LCK_chr1_32246265_32291165	32258616	T T	TTCTACTA others(29): Show TTCTACTAAAAAACACGTCTCTACTAAAAAACACGTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp1 HG02717.hp2 others(2): Show HG00639.hp1 HG02109.hp1 HG02717.hp2 HG03209.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0003c0004t0002	a0001c0001t0001g0268 a0001c0001t0002g0018 a0001c0001t0002g0036 others(2): Show a0001c0001t0001g0268 a0001c0001t0002g0018 a0001c0001t0002g0036 a0001c0001t0006g0037 a0003c0004t0002g0027	5	274	0.0183	36	c.-6+ others(51): Show c.-6+7274_-6+7275insACACGTCTCTACTAAAAAACACGTCTCTAC TAAAAA	LCK	ENSG00000182866.18	transcript	ENST00000336890.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
LCK_chr1_32246265_32291165	32272573	A A	AAGAGAGA others(29): Show AAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02622.hp1 HG02895.hp1 others(1): Show HG01496.hp1 HG02622.hp1 HG02895.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0117 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0117 a0002c0002t0001g0073	4	274	0.0146	36	c.-5- others(51): Show c.-5-1720_-5-1685dupAAGAGAGAGAGAGAGAGAAAGAGAGAGAGA GAGAGA	LCK	ENSG00000182866.18	transcript	ENST00000336890.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
LCN15_chr9_136754634_136769518	136759392	G G	GCCTCTTC others(29): Show GCCTCTTCACCCAGGGCCCCTCACCCTTGTCCCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	356	0.0028	36	c.42 others(45): Show c.423_*424insGCAGGGGACAAGGGTGAGGGGCCCTGGGTGAAGAGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		241		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769477	A A	ACCCCCGA others(29): Show ACCCCCGACACCCCCCATGCACTGCCCCCCCGCCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	356	0.0028	36	c.-49 others(47): Show c.-4990_-4989insGGTGGCGGGGGGGCAGTGCATGGGGGGTGTCGGG GG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4960		chr9	TogoVar
LCORL_chr4_17836187_18026755	17940134	G G	GTGTATAT others(29): Show GTGTATATATATGTATATATGTATATATATGTATACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02818.hp2 others(3): Show HG02145.hp2 HG02572.hp1 HG02818.hp2 HG03209.hp1 HG03540.hp2 NA19240.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0011 a0005c0006t0005 a0005c0006t0011	a0005c0006t0005g0231 a0005c0006t0011g0208 a0005c0006t0011g0222 others(3): Show a0005c0006t0005g0231 a0005c0006t0011g0208 a0005c0006t0011g0222 a0005c0006t0011g0223 a0005c0006t0011g0229 a0005c0006t0011g0230	6	292	0.0206	36	c.430 others(55): Show c.430+21733_430+21768dupTGTATACATATATATACATATATACA TATATATACA	LCORL	ENSG00000178177.17	transcript	ENST00000635767.2	protein_coding	4/7			chr4	TogoVar
LCOR_chr10_96827298_97000956	96920686	G G	GTGTATAT others(29): Show GTGTATATATGCATATATATTCATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0286 a0001c0001t0106g0286	1	288	0.0035	36	c.-18 others(57): Show c.-184+12949_-184+12950insCATATATATTCATATATGTGTATA TATGTATATATG	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCOR_chr10_96827298_97000956	96920752	A A	ATATGTTC others(29): Show ATATGTTCATATATATGTGTATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0064 a0004c0009t0064	a0004c0009t0064g0166 a0004c0009t0064g0166	1	288	0.0035	36	c.-18 others(57): Show c.-184+13005_-184+13006insTATGTTCATATATATGTGTATATA TGTGTATATATG	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7			chr10	TogoVar
LDAH_chr2_20679031_20828101	20716720	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04199.hp2 HG03831.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0172 a0001c0001t0003g0173	2	258	0.0078	36	c.704 others(55): Show c.704-15069_704-15068insTATATATATATATATATATATATATA TATATATATA	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6			chr2	TogoVar
LDB2_chr4_16496541_16903645	16659671	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19065.hp2 NA19003.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0063 a0001c0001t0001g0022 a0001c0001t0001g0063	2	162	0.0124	36	c.236 others(55): Show c.236-63797_236-63796insTATATATATATATATATATATATATA TATATACACA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16659671	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	162	0.0062	36	c.236 others(55): Show c.236-63797_236-63796insTATATATATATATATATATATATATA TATACACACA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16739710	A A	ATATACAT others(29): Show ATATACATACATATATGTATATATACATATATGTATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	162	0.0062	36	c.235 others(55): Show c.235+19447_235+19448insCATACATATATGTATATATACATATA TGTATGTATA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDHC_chr11_18407318_18457063	18438022	G G	GCCACTAT others(29): Show GCCACTATGCTACAGCCTGAGTGAAAAAGAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	348	0.0029	36	c.593 others(51): Show c.593-505_593-470dupCCACTATGCTACAGCCTGAGTGAAAAAGAA AAAAAA	LDHC	ENSG00000166796.12	transcript	ENST00000541669.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36128117	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02027.hp1 HG02040.hp1 others(7): Show HG01934.hp1 HG02027.hp1 HG02040.hp1 HG02897.hp2 HG02922.hp1 HG03239.hp1 NA19056.hp2 NA19068.hp1 NA19085.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0002t0001 a0001c0002t0008 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0138 a0001c0001t0001g0174 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0003g0025 a0001c0001t0003g0224 a0001c0001t0005g0092 a0001c0001t0012g0001 a0001c0002t0001g0159 a0001c0002t0008g0039 a0002c0003t0001g0229	10	236	0.0424	36	c.454 others(55): Show c.454+29674_454+29675insATATATATATATATATATATATATAT ATATATATAT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LEMD3_chr12_65164583_65253355	65180989	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	398	0.0025	36	c.152 others(55): Show c.1522+9892_1522+9893insCACACACACACACACACACACACACA CACACACACA	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LEO1_chr15_51933025_51976778	51961352	A A	AGGTGGTG others(29): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0299	1	388	0.0026	36	c.920 others(51): Show c.920-655_920-620dupACCACCACCACCACCACCACCACCACCACC ACCACC	LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding	3/11			chr15	TogoVar
LEPROT_chr1_65415668_65441007	65417065	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01069.hp1 HG01109.hp1 others(5): Show HG00673.hp1 HG01069.hp1 HG01109.hp1 HG04199.hp1 NA18942.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0054	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0017 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0008g0033 a0001c0001t0054g0066	8	402	0.0199	36	c.-36 others(47): Show c.-3660_-3659insATATATATATATATATATATATATATATATATAT AT	LEPROT	ENSG00000213625.9	transcript	ENST00000371065.9	protein_coding		3602		chr1	TogoVar
LEPR_chr1_65415668_65646559	65417065	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG04199.hp1 NA18942.hp2 HG01069.hp1 HG04199.hp1 NA18942.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0003c0006 a0002c0002 a0003c0004 a0003c0006	a0002c0002t0036 a0003c0004t0006 a0003c0006t0001 a0002c0002t0036 a0003c0004t0006 a0003c0006t0001	a0002c0002t0036g0026 a0003c0004t0006g0002 a0003c0006t0001g0023 a0002c0002t0036g0026 a0003c0004t0006g0002 a0003c0006t0001g0023	3	216	0.0139	36	c.-37 others(47): Show c.-3772_-3771insATATATATATATATATATATATATATATATATAT AT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding		3602		chr1	TogoVar
LEPR_chr1_65415668_65646559	65488159	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0018 a0001c0001t0031g0018	1	216	0.0046	36	c.-21 others(55): Show c.-21+62784_-21+62785insCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488159	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0216 a0001c0001t0011g0216	1	216	0.0046	36	c.-21 others(55): Show c.-21+62784_-21+62785insCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488232	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	216	0.0046	36	c.-21 others(55): Show c.-21+62855_-21+62856insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488232	C C	CTTTCTCT others(29): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03139.hp2 HG01993.hp1 HG03139.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0002 a0005c0012t0002 a0001c0001t0002 a0005c0012t0002	a0001c0001t0002g0148 a0005c0012t0002g0172 a0001c0001t0002g0148 a0005c0012t0002g0172	2	216	0.0093	36	c.-21 others(55): Show c.-21+62859_-21+62860insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEUTX_chr19_39773854_39791291	39789487	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	476	0.0021	36	c.33 others(47): Show c.3352_*3353insATATATATATATATATATATATATATATATATAT AT	LEUTX	ENSG00000213921.8	transcript	ENST00000638280.2	protein_coding		3197		chr19	TogoVar
LEXM_chr1_54801063_54847252	54819812	T T	TTTTCTTT others(29): Show TTTTCTTTCTCTTTCTTTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01070.hp2 others(16): Show HG00544.hp1 HG00673.hp2 HG01070.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG02083.hp1 HG02155.hp1 HG02602.hp1 HG03130.hp1 NA18955.hp1 NA18972.hp1 NA19010.hp2 NA19011.hp1 NA19076.hp1 NA19077.hp1 NA19087.hp2 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0006c0014	a0001c0002t0009 a0001c0003t0003 a0001c0003t0004 others(3): Show a0001c0002t0009 a0001c0003t0003 a0001c0003t0004 a0001c0004t0003 a0002c0005t0004 a0006c0014t0003	a0001c0002t0009g0230 a0001c0003t0003g0215 a0001c0003t0003g0220 others(13): Show a0001c0002t0009g0230 a0001c0003t0003g0215 a0001c0003t0003g0220 a0001c0003t0003g0227 a0001c0003t0003g0228 a0001c0003t0003g0242 a0001c0003t0003g0243 a0001c0003t0004g0027 a0001c0004t0003g0043 a0001c0004t0003g0192 a0002c0005t0004g0040 a0002c0005t0004g0069 a0002c0005t0004g0118 a0002c0005t0004g0129 a0002c0005t0004g0163 a0006c0014t0003g0233	19	382	0.0497	36	c.118 others(55): Show c.1184+2699_1184+2700insCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTCT	LEXM	ENSG00000162398.12	transcript	ENST00000371273.4	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 8848 hits)