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 (≤).

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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
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	396	0.0025	38	c.75 others(47): Show c.757_*758insAAAAAATATATATATATATATATATATATATATATA TA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37519748	T T	TTGTTTTT others(31): Show TTGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0274 a0001c0001t0048g0274	1	350	0.0029	38	c.72 others(49): Show c.7218_*7219insGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT TTGT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7219	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519753	T T	TTTGTTTT others(31): Show TTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02818.hp2 HG02257.hp2 HG02258.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0138 a0001c0001t0142 a0001c0001t0143 a0001c0001t0138 a0001c0001t0142 a0001c0001t0143	a0001c0001t0138g0325 a0001c0001t0142g0326 a0001c0001t0143g0324 a0001c0001t0138g0325 a0001c0001t0142g0326 a0001c0001t0143g0324	3	350	0.0086	38	c.72 others(49): Show c.7224_*7225insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT TGTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7225	INFO_REALIGN_3_PRIME	chr21	TogoVar
DZIP1L_chr3_138056990_138120608	138118232	A A	ATTTTTCT others(31): Show ATTTTTCTCCTCTGTAAAATGGGAAAAGTAAACTCTACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	312	0.0032	38	c.-29 others(49): Show c.-2987_-2986insGGTAGAGTTTACTTTTCCCATTTTACAGAGGAGA AAAA	DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding		2625		chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	318	0.0031	38	c.696 others(55): Show c.696+1880_696+1881insACACACACACACACACACACACACTCTC TCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(31): Show ACACACACACACACACACATACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0220 a0003c0006t0002g0220	1	318	0.0031	38	c.696 others(55): Show c.696+1880_696+1881insACACACACACACACACATACACACTCTC TCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(31): Show ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	318	0.0031	38	c.696 others(55): Show c.696+1880_696+1881insACACACACACACACTCTCTCTCTCTCTC TCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(31): Show ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18975.hp1 HG02738.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0035 a0001c0001t0001g0038	2	318	0.0063	38	c.696 others(55): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTCTC TCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(31): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	318	0.0031	38	c.696 others(55): Show c.696+1880_696+1881insACACACTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EBF2_chr8_25836725_26050413	26005486	A A	ATATATAT others(31): Show ATATATATATAAATATAATATATATTTTATAATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0179 a0001c0002t0003g0179	1	220	0.0046	38	c.551 others(57): Show c.551+27598_551+27599insATATATATTATAAAATATATATTATA TTTATATATATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF3_chr10_129830233_129969274	129831278	G G	GCCTCCCA others(31): Show GCCTCCCACTCCCGCACCTCCCTCCCACTCCCGCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	338	0.0030	38	c.66 others(49): Show c.6664_*6665insGAGGTGCGGGAGTGGGAGGGAGGTGCGGGAGTGG GAGG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding		3954		chr10	TogoVar
EBF3_chr10_129830233_129969274	129955947	A A	ATGATTTC others(31): Show ATGATTTCCATGGCCACAACACTAAAGACAGATATAATT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	338	0.0030	38	c.554 others(55): Show c.554+1273_554+1310dupAATTATATCTGTCTTTAGTGTTGTGGCC ATGGAAATCA	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129963836	T T	TGGCGGCA others(31): Show TGGCGGCAGGCGGCTGCCCTGGCCGCCCTCGCCCTGCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG02723.hp1 others(1): Show HG02630.hp1 HG02630.hp2 HG02723.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 others(1): Show a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050	a0001c0001t0047g0320 a0001c0001t0048g0321 a0001c0001t0049g0322 others(1): Show a0001c0001t0047g0320 a0001c0001t0048g0321 a0001c0001t0049g0322 a0001c0001t0050g0319	4	338	0.0118	38	c.-10 others(46): Show c.-106_-69dupGAGCAGGGCGAGGGCGGCCAGGGCAGCCGCCTGCCGC C	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	1/17	69		chr10	TogoVar
ECM2_chr9_92490315_92540990	92532304	T T	TCACTCTG others(31): Show TCACTCTGTATACAAAGATATAATTTTCTTGTTTTTATC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	400	0.0025	38	c.-28 others(55): Show c.-28+3591_-28+3628dupGATAAAAACAAGAAAATTATATCTTTGT ATACAGAGTG	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19090.hp1 NA19007.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0280 a0002c0003t0001g0287 a0002c0003t0001g0280 a0002c0003t0001g0287	2	354	0.0057	38	c.22+ others(53): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC ACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446471	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02165.hp1 HG02258.hp1 HG01074.hp1 HG02165.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	369	0.0081	38	c.24 others(49): Show c.2428_*2429insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2088		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446475	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01358.hp2 HG03490.hp2 others(2): Show HG01256.hp1 HG01358.hp2 HG03490.hp2 NA18980.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0105 a0001c0001t0001g0148	5	369	0.0136	38	c.24 others(49): Show c.2424_*2425insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2084		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446479	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 NA19084.hp1 NA19084.hp2 HG00099.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0001 a0001c0001t0001g0080 a0001c0001t0001g0083	3	369	0.0081	38	c.24 others(49): Show c.2420_*2421insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2080		chr5	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	226	0.0044	38	c.396 others(57): Show c.396+39083_396+39084insATATATATATATATATATATATATAT ATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDIL3_chr5_83935554_84389880	84291646	C C	CTATATCT others(31): Show CTATATCTATATATCTATATATATATCTATCTATATAGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02523.hp1 HG02896.hp1 HG02897.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0004 a0001c0004t0010 a0001c0001t0001 a0001c0002t0004 a0001c0004t0010	a0001c0001t0001g0056 a0001c0002t0004g0062 a0001c0004t0010g0156 others(1): Show a0001c0001t0001g0056 a0001c0002t0004g0062 a0001c0004t0010g0156 a0001c0004t0010g0157	4	158	0.0253	38	c.68- others(55): Show c.68-37472_68-37435dupTCTATATAGATAGATATATATATAGATA TATAGATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEF1A2_chr20_63483014_63504083	63492084	A A	ATGGATGG others(31): Show ATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02280.hp2 HG02895.hp2 others(4): Show HG01361.hp2 HG02280.hp2 HG02895.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0138 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0138	7	374	0.0187	38	c.772 others(55): Show c.772+1052_772+1053insCATTGTCTCAACCATCCATCCTTCTCTC TATCCATCCA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20730115	G G	GCTTCCAG others(31): Show GCTTCCAGCCTTTAGTCTATTTTATTATTATTTTTTAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	348	0.0029	38	c.509 others(53): Show c.509-900_509-899insTTTAAAAAATAATAATAAAATAGACTAAAG GCTGGAAG	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	4/4			chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769218	C C	CACAAAAA others(31): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	358	0.0028	38	c.400 others(55): Show c.400-3611_400-3610insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG03834.hp1 NA18992.hp2 others(1): Show HG02132.hp1 HG03834.hp1 NA18992.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009	a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0006g0348 others(1): Show a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0006g0348 a0001c0001t0009g0021	4	358	0.0112	38	c.400 others(55): Show c.400-3626_400-3625insATATATATATATATATATATTTTTTTTT TTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02155.hp2 NA18944.hp1 HG00621.hp1 HG02155.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0147	3	358	0.0084	38	c.400 others(55): Show c.400-3626_400-3625insATATATATATATATATATATATTTTTTT TTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19087.hp2 NA19088.hp1 NA19064.hp1 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144	3	358	0.0084	38	c.400 others(55): Show c.400-3626_400-3625insATATATATATATATATATATATATTTTT TTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18969.hp2 NA18981.hp1 others(2): Show HG02615.hp2 NA18969.hp2 NA18981.hp1 NA18992.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0001c0001t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0150 a0001c0001t0007g0257 a0002c0002t0001g0014	5	358	0.0140	38	c.291 others(53): Show c.291+332_291+333insTATATATATATATATATATATATATATATA TATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1E1_chr6_8074395_8107548	8097512	A A	ACATCATG others(31): Show ACATCATGATTATAACTTCTAAGTAACCACGAAATCCCT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	442	0.0023	38	c.88- others(49): Show c.88-83_88-46dupAGGGATTTCGTGGTTACTTAGAAGTTATAATCAT GATG	EEF1E1	ENSG00000124802.12	transcript	ENST00000379715.10	protein_coding	1/3			chr6	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCCCGC others(31): Show CCCCCCGCCCCCCATCCTACCCCCCAGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01192.hp2 HG02145.hp2 others(4): Show HG00140.hp2 HG01192.hp2 HG02145.hp2 HG02723.hp2 HG03942.hp2 NA18980.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0228 others(4): Show a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0264 a0001c0003t0001g0229	7	272	0.0257	38	c.-60 others(47): Show c.-606_-605insCCCCCGCCCCCCATCCTACCCCCCAGTCCCCCCGCC CT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCCCGC others(31): Show CCCCCCGCCCCCCATCCTACCCCCCGGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0206 a0001c0003t0001g0206	1	272	0.0037	38	c.-60 others(47): Show c.-606_-605insCCCCCGCCCCCCATCCTACCCCCCGGTCCCCCCGCC CT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCCGCC others(31): Show CCCCCGCCCCCCATCCTACCCCCCCCGTCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02055.hp2 HG00733.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0038 a0001c0002t0001g0012 a0001c0002t0001g0038	2	272	0.0074	38	c.-60 others(47): Show c.-606_-605insCCCCGCCCCCCATCCTACCCCCCCCGTCCCCCCGCC CT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152902	C C	CCCCGCCC others(31): Show CCCCGCCCCCCATCCTACCCCCCCCGTCCCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0017 a0002c0007t0001g0017	1	272	0.0037	38	c.-60 others(47): Show c.-606_-605insCCCGCCCCCCATCCTACCCCCCCCGTCCCCCCCGCC CT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		578		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCCGCCCC others(31): Show CCCGCCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	272	0.0037	38	c.-51 others(47): Show c.-517_-516insCCGCCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCC TT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCGCCCCC others(31): Show CCGCCCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA19012.hp2 NA19054.hp1 NA18944.hp1 NA19012.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0009t0001g0040 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0009t0001g0040	3	272	0.0110	38	c.-51 others(47): Show c.-517_-516insCGCCCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCC TT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCGCCCCC others(31): Show CCGCCCCCCCCGCCCCCCCCGCCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	272	0.0037	38	c.-51 others(47): Show c.-517_-516insCGCCCCCCCCGCCCCCCCCGCCCCCCCCCGCCCCCC TT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985676	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	342	0.0029	38	c.-55 others(49): Show c.-5540_-5539insGTATATATATATATATATATATATATATATATAT ATAT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4688		chr9	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0043 a0002c0003t0043	a0002c0003t0043g0022 a0002c0003t0043g0022	1	346	0.0029	38	c.-20 others(49): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01891.hp2 HG01943.hp2 others(11): Show HG01168.hp2 HG01891.hp2 HG01943.hp2 HG02486.hp1 HG02717.hp2 HG02922.hp2 HG04228.hp2 NA18982.hp1 NA18986.hp2 NA18989.hp1 NA19001.hp2 NA19010.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0008 a0001c0001 a0001c0004 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0004t0009 a0003c0008t0001	a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0002g0039 others(11): Show a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0004g0110 a0001c0001t0004g0152 a0001c0001t0008g0177 a0001c0001t0010g0072 a0001c0001t0013g0028 a0001c0004t0009g0271 a0003c0008t0001g0268	14	284	0.0493	38	c.410 others(57): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB6_chr22_43523778_43817305	43749601	C C	CGCTGCTG others(31): Show CGCTGCTGATCTGACAGGAGGCGGAGCTCAGGCGGTGAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	290	0.0035	38	c.507 others(55): Show c.507+6127_507+6164dupATCACCGCCTGAGCTCCGCCTCCTGTCA GATCAGCAGC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	6/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43784611	G G	GTGTATAT others(31): Show GTGTATATACACATATATATGTGTATATACACATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	290	0.0035	38	c.-7- others(53): Show c.-7-2287_-7-2286insTATATATGTGTATATACACATATATATGTG TATATACA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EFEMP1_chr2_55860967_55928782	55865188	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	350	0.0029	38	c.18 others(49): Show c.1884_*1885insATATATATATATATATATATATATATATATATAT ATAT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding		778		chr2	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(31): Show AAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0083 a0005c0006t0001g0083	1	344	0.0029	38	c.128 others(57): Show c.1289-2814_1289-2813insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTTTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18991.hp1 HG02056.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0122 a0002c0002t0002g0290 a0002c0002t0001g0122 a0002c0002t0002g0290	2	344	0.0058	38	c.128 others(57): Show c.1289-2851_1289-2814dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG02630.hp2 HG02965.hp1 others(2): Show HG00544.hp1 HG02630.hp2 HG02965.hp1 NA18941.hp1 NA18982.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0010	a0002c0002 a0004c0004 a0006c0006 others(1): Show a0002c0002 a0004c0004 a0006c0006 a0010c0012	a0002c0002t0053 a0004c0004t0015 a0006c0006t0056 others(1): Show a0002c0002t0053 a0004c0004t0015 a0006c0006t0056 a0010c0012t0015	a0002c0002t0053g0209 a0004c0004t0015g0109 a0004c0004t0015g0127 others(2): Show a0002c0002t0053g0209 a0004c0004t0015g0109 a0004c0004t0015g0127 a0006c0006t0056g0196 a0010c0012t0015g0013	5	396	0.0126	38	c.10 others(49): Show c.1044_*1045insATATATATATATATATATATATATATATATATAT ATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18960.hp1 NA19010.hp1 others(2): Show HG00621.hp1 NA18960.hp1 NA19010.hp1 NA19062.hp1 NA19088.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0003 a0001c0001t0005 a0007c0009t0003 a0001c0001t0003 a0001c0001t0005 a0007c0009t0003	a0001c0001t0003g0188 a0001c0001t0005g0039 a0001c0001t0005g0084 others(2): Show a0001c0001t0003g0188 a0001c0001t0005g0039 a0001c0001t0005g0084 a0001c0001t0005g0213 a0007c0009t0003g0117	5	221	0.0226	38	c.175 others(57): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATATATATATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232650560	C C	CTGAGATT others(31): Show CTGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0272 a0001c0001t0021g0272	1	382	0.0026	38	c.303 others(57): Show c.303-12241_303-12240insGAGATTGCAGGCGTGAGCCACCATGC CCAGCTGCCTTT	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(31): Show GACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01358.hp1 HG01978.hp2 others(9): Show HG01256.hp2 HG01358.hp1 HG01978.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02723.hp2 HG02965.hp2 NA18941.hp2 NA18967.hp1 NA18985.hp2 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0005 a0001c0008 a0002c0002 others(2): Show a0001c0005 a0001c0008 a0002c0002 a0006c0009 a0006c0025	a0001c0005t0001 a0001c0008t0001 a0002c0002t0001 others(2): Show a0001c0005t0001 a0001c0008t0001 a0002c0002t0001 a0006c0009t0001 a0006c0025t0001	a0001c0005t0001g0019 a0001c0005t0001g0020 a0001c0005t0001g0025 others(9): Show a0001c0005t0001g0019 a0001c0005t0001g0020 a0001c0005t0001g0025 a0001c0008t0001g0353 a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0002t0001g0106 a0002c0002t0001g0116 a0002c0002t0001g0124 a0006c0009t0001g0356 a0006c0009t0001g0357 a0006c0025t0001g0007	12	368	0.0326	38	c.175 others(57): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107476056	A A	ATATATAT others(31): Show ATATATATATATATATATATATATGTATATATATATATT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0115 a0001c0001t0025g0115	1	190	0.0053	38	c.126 others(57): Show c.126-48548_126-48547insAATATATATATATACATATATATATA TATATATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0019 a0001c0019t0019	a0001c0019t0019g0132 a0001c0019t0019g0132	1	412	0.0024	38	c.72 others(49): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG00140.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0006 a0001c0001t0003 a0001c0003t0006	a0001c0001t0003g0118 a0001c0003t0006g0117 a0001c0001t0003g0118 a0001c0003t0006g0117	2	306	0.0065	38	c.7+4 others(51): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 5880 hits)