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
KIF16B_chr20_16267104_16578448	16395263	G G	GGAGGTGG others(30): Show GGAGGTGGAGGGGAGGAGAGGGGAGGCCAAGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0056 a0005c0009t0002g0056	1	250	0.0040	37	c.178 others(56): Show c.1784+9549_1784+9550insTCCCCTCCTTGGCCTCCCCTCTCCTC CCCTCCACCTC	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	17/25			chr20	TogoVar
KIF26B_chr1_245149985_245714432	245443887	C C	CTAGAGGA others(30): Show CTAGAGGAGAGGTCATCTCCCTCACTGTTCACTTAGAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19030.hp1 HG02897.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0037 a0001c0004t0088 a0001c0001t0037 a0001c0004t0088	a0001c0001t0037g0119 a0001c0004t0088g0051 a0001c0001t0037g0119 a0001c0004t0088g0051	2	160	0.0125	37	c.116 others(58): Show c.1166+24142_1166+24143insTAGAGGAGAGGTCATCTCCCTCAC TGTTCACTTAGAG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14			chr1	TogoVar
KIF3B_chr20_32272651_32340011	32299403	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0013 a0001c0001t0024g0013	1	242	0.0041	37	c.-65 others(56): Show c.-65-10309_-65-10308insATATATATATATATATATATTTTTTT TTTTTTTTTTT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF5B_chr10_32004015_32061425	32006436	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	364	0.0028	37	c.51 others(48): Show c.5100_*5101insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	KIF5B	ENSG00000170759.11	transcript	ENST00000302418.5	protein_coding		2578		chr10	TogoVar
KIFAP3_chr1_169916329_170079695	169973123	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	372	0.0027	37	c.189 others(54): Show c.1898-526_1898-525insATATATATATATATATATATATATATAT ATATATATA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	408	0.0025	37	c.790 others(52): Show c.790-449_790-448insAAAAAAAAAAAAAAAAATATATATATATAT ATATATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIFBP_chr10_68983803_69021982	69008391	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0245	1	408	0.0025	37	c.790 others(52): Show c.790-449_790-448insAAAAATATATATATATATATATATATATAT ATATATA	KIFBP	ENSG00000198954.9	transcript	ENST00000361983.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIR2DL3_chr19_54733513_54758052	54755289	G G	GTGGAGAT others(30): Show GTGGAGATAGGAACCTGGAGGGGAGATATGAGCCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA19066.hp1 NA18952.hp1 NA19066.hp1	a0000 a0000	a0000c0010 a0000c0010	a0000c0010t0006 a0000c0010t0006	a0000c0010t0006g0053 a0000c0010t0006g0055 a0000c0010t0006g0053 a0000c0010t0006g0055	2	312	0.0064	37	c.27 others(48): Show c.2770_*2771insTGGAGATAGGAACCTGGAGGGGAGATATGAGCCT GGA	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding		2238		chr19	TogoVar
KLF12_chr13_73681089_74139404	74022454	A A	AGTCTCCC others(30): Show AGTCTCCCACTTCTGCCACATGGCATTTTTCAAATTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02723.hp2 others(8): Show HG02257.hp1 HG02559.hp2 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp2 HG03669.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0032 a0001c0001t0036 a0001c0001t0044 a0001c0002t0003 a0001c0002t0004 a0001c0002t0024	a0001c0001t0001g0045 a0001c0001t0003g0100 a0001c0001t0004g0118 others(8): Show a0001c0001t0001g0045 a0001c0001t0003g0100 a0001c0001t0004g0118 a0001c0001t0012g0113 a0001c0001t0032g0092 a0001c0001t0036g0048 a0001c0001t0044g0111 a0001c0002t0003g0055 a0001c0002t0004g0049 a0001c0002t0004g0108 a0001c0002t0024g0030	11	120	0.0917	37	c.-31 others(56): Show c.-31-27438_-31-27402dupAAAATTTGAAAAATGCCATGTGGCAG AAGTGGGAGAC	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	1/7			chr13	TogoVar
KLF15_chr3_126337635_126362408	126343152	G G	GCCCCCCA others(30): Show GCCCCCCACCCCCCCACCCCCCCCCCCACCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0119 a0001c0001t0085g0119	1	382	0.0026	37	c.57 others(46): Show c.574_*575insGGGGGGGGGGTGGGGGGGGGGGTGGGGGGGTGGGGG G	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	574		chr3	TogoVar
KLF17_chr1_44113821_44140140	44127692	T T	TTCTTTCT others(30): Show TTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0138 a0004c0004t0004g0138	1	444	0.0023	37	c.82- others(52): Show c.82-1660_82-1659insCTTTCTTTCTTTTCTTTCTTTCTTTCTTTT TCTTTCT	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF6_chr10_3770996_3790209	3789624	C C	CCCCCAAA others(30): Show CCCCCAAACCCAGATAGTAAACATCTGACAATACACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	458	0.0022	37	c.-46 others(48): Show c.-4611_-4610insCCGTGTATTGTCAGATGTTTACTATCTGGGTTTG GGG	KLF6	ENSG00000067082.15	transcript	ENST00000497571.6	protein_coding		4416		chr10	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	208	0.0048	37	c.22 others(48): Show c.2297_*2298insAAAAAAAATATATATATATATATATATATATATA TAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	208	0.0048	37	c.22 others(48): Show c.2297_*2298insAAAAAATATATATATATATATATATATATATATA TAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87770984	T T	TATGTATT others(30): Show TATGTATTAATACTATCAAGGTCTGGCCAGGCACAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0305 a0003c0003t0002g0305	1	380	0.0026	37	c.-50 others(48): Show c.-5095_-5094insCACTGTGCCTGGCCAGACCTTGATAGTATTAATA CAT	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		4999		chr16	TogoVar
KLHL23_chr2_169728832_169756878	169738839	C C	CCCCCTCC others(30): Show CCCCCTCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0244 a0001c0001t0022g0244	1	400	0.0025	37	c.121 others(56): Show c.1214-2537_1214-2536insCTCCTCCCCCTCCCCCCTCCTCCCCC TTCCCCTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169740766	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0047 a0001c0001t0019g0047	1	400	0.0025	37	c.121 others(54): Show c.1214-619_1214-618insATATATATATATATATATATATATATAT ATATATATA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3			chr2	TogoVar
KLHL23_chr2_169728832_169756878	169747389	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0037 a0001c0001t0046g0037	1	400	0.0025	37	c.136 others(56): Show c.1367-2014_1367-2013insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL25_chr15_85754326_85799925	85766559	A A	AGATTAAA others(30): Show AGATTAAACCAGCACCAGATGAGACACTCCTCCCGCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	406	0.0025	37	c.24 others(54): Show c.24+1421_*24+1457dupGGGCGGGAGGAGTGTCTCATCTGGTGCT GGTTTAATC	KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding	2/2			chr15	TogoVar
KLHL32_chr6_96919728_97145753	96973730	C C	CTCTTTTT others(30): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0040 a0001c0007t0040	a0001c0007t0040g0228 a0001c0007t0040g0228	1	244	0.0041	37	c.24- others(52): Show c.24-2266_24-2265insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL32_chr6_96919728_97145753	97055796	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	244	0.0041	37	c.313 others(54): Show c.313-8806_313-8805insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLK7_chr19_50971468_50988917	50983145	C C	CCCTCCTC others(30): Show CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20905.hp2 HG03041.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0069 a0001c0002t0003g0043 a0001c0001t0001g0069 a0001c0002t0003g0043	2	384	0.0052	37	c.-58 others(52): Show c.-58-689_-58-688insAGCTGGGGGCCTGGACTCCTGGGTCTGAGG GAGGAGG	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5			chr19	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CTCTTTCT others(30): Show CTCTTTCTTCCTTCCTTTCTTTCTTCCTTCGTTTCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	436	0.0023	37	c.85+ others(50): Show c.85+419_85+420insAAAGAAACGAAGGAAGAAAGAAAGGAAGGAAG AAAGA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607415	T T	TTCTTTCT others(30): Show TTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp2 NA18972.hp1 NA18949.hp1 NA18949.hp2 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079	3	436	0.0069	37	c.85+ others(50): Show c.85+339_85+340insCAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAGA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KNDC1_chr10_133155219_133231412	133155658	A A	AACTGTGG others(30): Show AACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02280.hp2 NA18946.hp2 others(2): Show HG00408.hp2 HG02280.hp2 NA18946.hp2 NA19011.hp1 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0011 a0014	a0001c0001 a0002c0043 a0004c0007 others(2): Show a0001c0001 a0002c0043 a0004c0007 a0011c0037 a0014c0066	a0001c0001t0002 a0002c0043t0002 a0004c0007t0002 others(2): Show a0001c0001t0002 a0002c0043t0002 a0004c0007t0002 a0011c0037t0027 a0014c0066t0002	a0001c0001t0002g0081 a0002c0043t0002g0062 a0004c0007t0002g0054 others(2): Show a0001c0001t0002g0081 a0002c0043t0002g0062 a0004c0007t0002g0054 a0011c0037t0027g0310 a0014c0066t0002g0111	5	332	0.0151	37	c.-48 others(48): Show c.-4810_-4809insACTGTGGGGTATTGACGTCGTTGGAAAGAGAACC TCC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4560		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133155880	C C	CACTGTGG others(30): Show CACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0005 a0006c0019t0005	a0006c0019t0005g0277 a0006c0019t0005g0278 a0006c0019t0005g0277 a0006c0019t0005g0278	2	332	0.0060	37	c.-45 others(48): Show c.-4588_-4587insACTGTGGGGTATTGACGTCGTTGGAAAGAGAACC TCA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4338		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133156011	G G	GTTGGAAA others(30): Show GTTGGAAAGAGAACCTCCACTGTGGGGTATTGACGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0011 a0011	a0011c0053 a0011c0053	a0011c0053t0001 a0011c0053t0001	a0011c0053t0001g0316 a0011c0053t0001g0316	1	332	0.0030	37	c.-44 others(48): Show c.-4457_-4456insTTGGAAAGAGAACCTCCACTGTGGGGTATTGACG TCA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4207		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133156118	C C	CGTCATTG others(30): Show CGTCATTGGAAAGAGAGCCTCAACTGTGGAGTATTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0029 a0002c0006t0029	a0002c0006t0029g0279 a0002c0006t0029g0279	1	332	0.0030	37	c.-43 others(48): Show c.-4350_-4349insGTCATTGGAAAGAGAGCCTCAACTGTGGAGTATT GAT	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4100		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133156401	T T	TGTGGGGT others(30): Show TGTGGGGTATTGACATCGTTGGAAAGAGAACCTCCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02615.hp1 HG00735.hp2 HG02615.hp1	a0003 a0003	a0003c0015 a0003c0049 a0003c0015 a0003c0049	a0003c0015t0028 a0003c0049t0002 a0003c0015t0028 a0003c0049t0002	a0003c0015t0028g0109 a0003c0049t0002g0023 a0003c0015t0028g0109 a0003c0049t0002g0023	2	332	0.0060	37	c.-40 others(48): Show c.-4067_-4066insGTGGGGTATTGACATCGTTGGAAAGAGAACCTCC ACG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		3817		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133174295	A A	ATGAAGAT others(30): Show ATGAAGATGGGGAACTTGCAACACGGAAGGAAGGGCGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(24): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0011 a0003c0015 a0003c0032 others(5): Show a0003c0011 a0003c0015 a0003c0032 a0003c0034 a0006c0010 a0006c0019 a0007c0009 a0007c0047	a0003c0011t0001 a0003c0015t0002 a0003c0032t0010 others(7): Show a0003c0011t0001 a0003c0015t0002 a0003c0032t0010 a0003c0034t0011 a0006c0010t0001 a0006c0010t0026 a0006c0019t0005 a0007c0009t0001 a0007c0009t0002 a0007c0047t0001	a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 others(24): Show a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0015t0002g0237 a0003c0032t0010g0308 a0003c0034t0011g0313 a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0048 a0006c0010t0001g0105 a0006c0010t0001g0240 a0006c0010t0026g0017 a0006c0019t0005g0277 a0006c0019t0005g0278 a0007c0009t0001g0002 a0007c0009t0001g0047 a0007c0009t0001g0104 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0007c0047t0001g0002	27	332	0.0813	37	c.360 others(54): Show c.360+6000_360+6036dupGCAACACGGAAGGAAGGGCGGTGAAGAT GGGGAACTT	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNL1_chr15_40589249_40669342	40656293	C C	CATTGTGG others(30): Show CATTGTGGTGTGTGCCTGTAAGCAAAAATAGCTGGGCA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	370	0.0027	37	c.648 others(54): Show c.6485-730_6485-729insAGCAAAAATAGCTGGGCAATTGTGGTGT GTGCCTGTA	KNL1	ENSG00000137812.21	transcript	ENST00000399668.7	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr15	TogoVar
KNOP1_chr16_19696937_19723227	19717369	G G	GGAGAGCC others(30): Show GGAGAGCCAAGACGACTTCAGAATAGGGGAGCAGTCAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	372	0.0027	37	c.-3+ others(50): Show c.-3+752_-3+788dupTTGACTGCTCCCCTATTCTGAAGTCGTCTTGG CTCTC	KNOP1	ENSG00000103550.14	transcript	ENST00000219837.12	protein_coding	1/4			chr16	TogoVar
KRBA1_chr7_149709951_149739575	149731299	C C	CATTCTTC others(30): Show CATTCTTCACTCCGCAGTGGGCCTAGTGGAAAATGGCA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	414	0.0024	37	c.224 others(54): Show c.2249-372_2249-336dupATTCTTCACTCCGCAGTGGGCCTAGTGG AAAATGGCA	KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
KRT23_chr17_40917700_40942646	40940059	C C	CACACACA others(30): Show CACACACAACGTTTGGTGACATTTGGTGAACATCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	437	0.0023	37	c.-30 others(48): Show c.-3065_-3064insAAAGGATGTTCACCAAATGTCACCAAACGTTGTG TGT	KRT23	ENSG00000108244.17	transcript	ENST00000209718.8	protein_coding		2414		chr17	TogoVar
KRT35_chr17_41471710_41486151	41479183	T T	TCACCTGC others(30): Show TCACCTGCTCCCCATGCTCACCTCCTCTTCCCTATGCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	448	0.0045	37	c.711 others(52): Show c.711+127_711+163dupTGCATAGGGAAGAGGAGGTGAGCATGGGGA GCAGGTG	KRT35	ENSG00000197079.9	transcript	ENST00000246639.7	protein_coding	3/6			chr17	TogoVar
KRT8_chr12_52892191_52910076	52894989	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	386	0.0026	37	c.24 others(48): Show c.2438_*2439insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2201		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894993	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0029 a0001c0002t0008g0029	1	386	0.0026	37	c.24 others(48): Show c.2434_*2435insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2197		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894993	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	386	0.0026	37	c.24 others(48): Show c.2434_*2435insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTC	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2197		chr12	TogoVar
KRT8_chr12_52892191_52910076	52894998	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	386	0.0026	37	c.24 others(48): Show c.2429_*2430insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2192		chr12	TogoVar
KRT8_chr12_52892191_52910076	52895002	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA21309.hp1 HG01884.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0001 a0004c0006t0001 a0001c0002t0001 a0004c0006t0001	a0001c0002t0001g0006 a0004c0006t0001g0017 a0001c0002t0001g0006 a0004c0006t0001g0017	2	386	0.0052	37	c.24 others(48): Show c.2425_*2426insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	KRT8	ENSG00000170421.13	transcript	ENST00000692008.1	protein_coding		2188		chr12	TogoVar
KRTAP4-4_chr17_41154649_41165748	41161596	T T	TATATAAA others(30): Show TATATAAAATATATATTATATATATACATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG02896.hp2 others(2): Show HG02486.hp1 HG02895.hp1 HG02896.hp2 HG03579.hp1 HG06807.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	5	420	0.0119	37	c.-90 others(46): Show c.-906_-905insTATATATATATGTATATATATAATATATATTTTATA T	KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding		849		chr17	TogoVar
KRTAP9-6_chr17_41260378_41270860	41261059	A A	AGGGGGGG others(30): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0000 a0000c0001t0000	a0000c0001t0000g0000 a0000c0001t0000g0000	1	248	0.0040	37	c.-43 others(48): Show c.-4319_-4318insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA GAG	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding		4318		chr17	TogoVar
KRTAP9-9_chr17_41250384_41261364	41261059	A A	AGGGGGGG others(30): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	415	0.0024	37	c.51 others(48): Show c.5164_*5165insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA GAG	KRTAP9-9	ENSG00000198083.9	transcript	ENST00000394008.1	protein_coding		4696		chr17	TogoVar
KSR2_chr12_117448012_117973990	117740578	T T	TATATATT others(30): Show TATATATTCATATATTATATGCATATATTACATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(22): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01192.hp2 HG01258.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02523.hp1 HG02523.hp2 HG03831.hp2 HG03834.hp2 NA18944.hp1 NA18962.hp1 NA18983.hp1 NA19011.hp2 NA19065.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0001t0008 a0001c0001t0043 others(20): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0043 a0001c0001t0046 a0001c0001t0069 a0001c0001t0086 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0022 a0001c0002t0033 a0001c0002t0039 a0001c0002t0051 a0001c0002t0062 a0001c0002t0079 a0001c0002t0148 a0001c0003t0007 a0001c0003t0065 a0001c0004t0056 a0001c0004t0096 a0001c0004t0117 a0001c0007t0055 a0001c0007t0151	a0001c0001t0002g0114 a0001c0001t0008g0103 a0001c0001t0043g0011 others(22): Show a0001c0001t0002g0114 a0001c0001t0008g0103 a0001c0001t0043g0011 a0001c0001t0046g0028 a0001c0001t0069g0052 a0001c0001t0086g0074 a0001c0002t0001g0112 a0001c0002t0001g0166 a0001c0002t0002g0086 a0001c0002t0002g0091 a0001c0002t0008g0165 a0001c0002t0022g0160 a0001c0002t0033g0014 a0001c0002t0039g0023 a0001c0002t0051g0034 a0001c0002t0062g0056 a0001c0002t0079g0077 a0001c0002t0148g0186 a0001c0003t0007g0163 a0001c0003t0065g0054 a0001c0004t0056g0033 a0001c0004t0096g0105 a0001c0004t0117g0092 a0001c0007t0055g0040 a0001c0007t0151g0196	25	196	0.1276	37	c.986 others(56): Show c.986+20432_986+20433insTATATATGTAATATATGCATATAATA TATGAATATAT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
KTN1_chr14_55575207_55689579	55689317	A A	AGGGGGGG others(30): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0111 a0012c0013t0001g0111	1	314	0.0032	37	c.52 others(48): Show c.5214_*5215insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGG	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding		4739		chr14	TogoVar
LAMA5_chr20_62304065_62372312	62318298	G G	GGGGGGAG others(30): Show GGGGGGAGGAAGAGGAGGAGGGGGGAGGAAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0048 a0048	a0048c0046 a0048c0046	a0048c0046t0001 a0048c0046t0001	a0048c0046t0001g0091 a0048c0046t0001g0091	1	186	0.0054	37	c.723 others(54): Show c.7239+155_7239+156insTCCTCCTCTTCCTCCCCCCTCCTCCTCT TCCTCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62318318	G G	GGGGGGAG others(30): Show GGGGGGAGGAAGAGGAGGAGGGGGGAGGAAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00642.hp1 others(20): Show HG00099.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02572.hp1 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04228.hp2 NA18983.hp2 NA19066.hp1 NA19088.hp2	a0000 a0002 a0012 others(8): Show a0000 a0002 a0012 a0014 a0015 a0018 a0034 a0052 a0053 a0059 a0092	a0000c0113 a0000c0120 a0002c0003 others(13): Show a0000c0113 a0000c0120 a0002c0003 a0002c0012 a0002c0081 a0002c0125 a0012c0021 a0014c0019 a0015c0020 a0018c0115 a0018c0116 a0034c0106 a0052c0118 a0053c0119 a0059c0123 a0092c0023	a0000c0113t0001 a0000c0120t0001 a0002c0003t0001 others(13): Show a0000c0113t0001 a0000c0120t0001 a0002c0003t0001 a0002c0012t0001 a0002c0081t0001 a0002c0125t0001 a0012c0021t0001 a0014c0019t0001 a0015c0020t0001 a0018c0115t0001 a0018c0116t0001 a0034c0106t0001 a0052c0118t0001 a0053c0119t0001 a0059c0123t0001 a0092c0023t0001	a0000c0113t0001g0078 a0000c0120t0001g0077 a0002c0003t0001g0090 others(20): Show a0000c0113t0001g0078 a0000c0120t0001g0077 a0002c0003t0001g0090 a0002c0003t0001g0130 a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0146 a0002c0012t0001g0015 a0002c0012t0001g0075 a0002c0081t0001g0087 a0002c0125t0001g0027 a0012c0021t0001g0073 a0012c0021t0001g0082 a0014c0019t0001g0152 a0015c0020t0001g0151 a0015c0020t0001g0153 a0018c0115t0001g0081 a0018c0116t0001g0070 a0034c0106t0001g0154 a0052c0118t0001g0074 a0053c0119t0001g0071 a0059c0123t0001g0025 a0092c0023t0001g0009	23	186	0.1237	37	c.723 others(54): Show c.7239+135_7239+136insTCCTCCTCTTCCTCCCCCCTCCTCCTCT TCCTCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62334753	C C	CAGGGCTC others(30): Show CAGGGCTCAGGGCGAGGGCGAGGGCGAGGGCGAGGGCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01070.hp2 others(13): Show HG00544.hp2 HG00597.hp2 HG01070.hp2 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG02015.hp2 HG02027.hp1 HG02129.hp2 HG02572.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04228.hp2 NA19010.hp2	a0000 a0001 a0002 others(8): Show a0000 a0001 a0002 a0012 a0018 a0048 a0049 a0050 a0053 a0055 a0058	a0000c0113 a0000c0120 a0001c0007 others(11): Show a0000c0113 a0000c0120 a0001c0007 a0002c0012 a0002c0081 a0012c0021 a0018c0115 a0018c0116 a0048c0046 a0049c0121 a0050c0114 a0053c0119 a0055c0133 a0058c0122	a0000c0113t0001 a0000c0120t0001 a0001c0007t0001 others(11): Show a0000c0113t0001 a0000c0120t0001 a0001c0007t0001 a0002c0012t0001 a0002c0081t0001 a0012c0021t0001 a0018c0115t0001 a0018c0116t0001 a0048c0046t0001 a0049c0121t0006 a0050c0114t0005 a0053c0119t0001 a0055c0133t0001 a0058c0122t0001	a0000c0113t0001g0078 a0000c0120t0001g0077 a0001c0007t0001g0085 others(13): Show a0000c0113t0001g0078 a0000c0120t0001g0077 a0001c0007t0001g0085 a0001c0007t0001g0149 a0002c0012t0001g0015 a0002c0081t0001g0087 a0012c0021t0001g0073 a0012c0021t0001g0082 a0018c0115t0001g0081 a0018c0116t0001g0070 a0048c0046t0001g0091 a0049c0121t0006g0076 a0050c0114t0005g0079 a0053c0119t0001g0071 a0055c0133t0001g0057 a0058c0122t0001g0080	16	186	0.0860	37	c.248 others(54): Show c.2483-133_2483-132insCGCCCTCGCCCTCGCCCTCGCCCTCGCC CTGAGCCCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360546	G G	GGTGGATG others(30): Show GGTGGATGGATAGGTGGGTGGGTGGGTGGAGGGATAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0016 a0016	a0016c0047 a0016c0047	a0016c0047t0001 a0016c0047t0001	a0016c0047t0001g0086 a0016c0047t0001g0086	1	186	0.0054	37	c.450 others(54): Show c.450+1853_450+1854insTCTATCCCTCCACCCACCCACCCACCTA TCCATCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMB1_chr7_107918799_108008161	107949471	T T	TTTAACAG others(30): Show TTTAACAGAGTAGTGATTAGAGCCCTGGAAAAAACAGA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0278 a0002c0008t0002g0278	1	364	0.0028	37	c.339 others(56): Show c.3391+1718_3391+1754dupTCTGTTTTTTCCAGGGCTCTAATCAC TACTCTGTTAA	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding	24/33			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 3614 hits)