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
ATP8B4_chr15_49853238_50124233	50087352	A A	ATTTATAT others(22): Show ATTTATATATAATAGATATACATCTATATC	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20300.hp1 HG02055.hp2 NA20300.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0012 a0002c0002 a0010c0012	a0002c0002t0001 a0010c0012t0001 a0002c0002t0001 a0010c0012t0001	a0002c0002t0001g0164 a0010c0012t0001g0096 a0002c0002t0001g0164 a0010c0012t0001g0096	2	254	0.0079	29	c.29- others(46): Show c.29-13168_29-13167insGATATAGATGTATATCTATTATATATAA A	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50087352	A A	ATTTATAT others(22): Show ATTTATATATAATAGATATAGATCTATATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0239 a0001c0001t0025g0239	1	254	0.0039	29	c.29- others(46): Show c.29-13168_29-13167insGATATAGATCTATATCTATTATATATAA A	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp1 HG02897.hp1 others(1): Show HG01243.hp1 HG01358.hp1 HG02897.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0013 a0001c0002t0011 a0001c0001t0012 a0001c0001t0013 a0001c0002t0011	a0001c0001t0012g0206 a0001c0001t0013g0051 a0001c0002t0011g0052 others(1): Show a0001c0001t0012g0206 a0001c0001t0013g0051 a0001c0002t0011g0052 a0001c0002t0011g0133	4	312	0.0128	29	c.328 others(46): Show c.328-5769_328-5741dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18612.hp2 NA18982.hp1 others(1): Show HG00639.hp2 NA18612.hp2 NA18982.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0004t0003 a0001c0001t0001 a0001c0001t0008 a0001c0004t0003	a0001c0001t0001g0054 a0001c0001t0008g0055 a0001c0001t0008g0057 others(1): Show a0001c0001t0001g0054 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0004t0003g0056	4	298	0.0134	29	c.119 others(46): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115802046	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0116 a0001c0011t0002g0116	1	128	0.0078	29	c.390 others(50): Show c.3904-45831_3904-45830insCACACACACACACACACACACACA CACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04199.hp1 HG03942.hp2 HG04199.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0155 a0002c0004t0016g0156 a0002c0004t0016g0155 a0002c0004t0016g0156	2	220	0.0091	29	c.411 others(48): Show c.411-23145_411-23144insATATATATATATATATATATTTTTTT TTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19012.hp1 NA18945.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0127 a0001c0001t0002g0101 a0001c0001t0002g0127	2	218	0.0092	29	c.455 others(46): Show c.4557+868_4557+896dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp2 HG03041.hp2 others(3): Show HG02451.hp2 HG02970.hp2 HG03041.hp2 HG06807.hp1 NA18951.hp2 NA19030.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0031	a0001c0001 a0001c0052 a0004c0005 others(3): Show a0001c0001 a0001c0052 a0004c0005 a0005c0060 a0009c0025 a0031c0048	a0001c0001t0011 a0001c0052t0047 a0004c0005t0002 others(3): Show a0001c0001t0011 a0001c0052t0047 a0004c0005t0002 a0005c0060t0006 a0009c0025t0031 a0031c0048t0042	a0001c0001t0011g0131 a0001c0052t0047g0060 a0004c0005t0002g0160 others(3): Show a0001c0001t0011g0131 a0001c0052t0047g0060 a0004c0005t0002g0160 a0005c0060t0006g0132 a0009c0025t0031g0058 a0031c0048t0042g0026	6	182	0.0330	29	c.-16 others(50): Show c.-161+45323_-161+45324insCTTTCTTTCTTTTTTTTTTTTTTT TTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16494078	G G	GGAGAGGC others(22): Show GGAGAGGCATCTCCAGTGCAGGGCTGGACT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG01884.hp2 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0006 a0005c0006t0003g0114 a0005c0006t0003g0006 a0005c0006t0003g0114	2	182	0.0110	29	c.-29 others(48): Show c.-298-7998_-298-7970dupAGTCCAGCCCTGCACTGGAGATGCCT CTC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	5/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111458166	G G	GAGATATA others(22): Show GAGATATAAGTCTCACTCACTCTGTTGCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG01884.hp1 HG02965.hp2	a0003 a0018 a0003 a0018	a0003c0004 a0018c0028 a0003c0004 a0018c0028	a0003c0004t0005 a0018c0028t0005 a0003c0004t0005 a0018c0028t0005	a0003c0004t0005g0086 a0018c0028t0005g0208 a0003c0004t0005g0086 a0018c0028t0005g0208	2	298	0.0067	29	c.289 others(46): Show c.2897-836_2897-808dupGGGCAACAGAGTGAGTGAGACTTATATC T	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	21/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111576132	T T	TAACATAA others(22): Show TAACATAACATAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0097 a0003c0004t0003g0097	1	298	0.0034	29	c.252 others(48): Show c.252-20214_252-20213insTGTTATGTTATGTTATGTTATGTTAT GTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7_chr3_63858867_64008462	63952835	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0029 a0016c0017t0029	a0016c0017t0029g0018 a0016c0017t0029g0018	1	300	0.0033	29	c.499 others(44): Show c.499+355_499+383dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ATXN7	ENSG00000163635.20	transcript	ENST00000674280.1	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
AUTS2_chr7_69593475_70798506	70185257	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0024 a0001c0004t0012g0024	1	76	0.0132	29	c.660 others(48): Show c.660+50713_660+50714insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33864728	A A	ACAGTTCA others(22): Show ACAGTTCACTCATTCAATGGGAGAGGTACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0243	1	266	0.0038	29	c.18 others(40): Show c.1856_*1884dupGGTACCTCTCCCATTGAATGAGTGAACTG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding		1498		chr15	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	266	0.0038	29	c.446 others(48): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32503406	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0282 a0001c0001t0013g0282	1	330	0.0030	29	c.93+ others(44): Show c.93+7604_93+7605insCACACACACACACACACACACACACACAC	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15			chr7	TogoVar
AVL9_chr7_32490489_32593726	32579431	T T	TTATATAT others(22): Show TTATATATACAATAATATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03139.hp1 HG03471.hp1 HG02895.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0143 a0001c0008t0118 a0001c0008t0120 a0001c0002t0143 a0001c0008t0118 a0001c0008t0120	a0001c0002t0143g0195 a0001c0008t0118g0053 a0001c0008t0120g0054 a0001c0002t0143g0195 a0001c0008t0118g0053 a0001c0008t0120g0054	3	330	0.0091	29	c.168 others(46): Show c.1689-788_1689-787insTATATATACAATAATATATATAATATAT A	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15			chr7	TogoVar
AXIN1_chr16_282440_357723	285937	C C	CCCCAACC others(22): Show CCCCAACCCCAACCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	378	0.0027	29	c.21 others(40): Show c.2156_*2184dupAGAACCGCGGGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1502		chr16	TogoVar
AXIN1_chr16_282440_357723	285959	G G	GCGGTTCT others(22): Show GCGGTTCTCCCAACCCCAACCCCAACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG03130.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0012 a0001c0004 a0001c0011 a0001c0012	a0001c0004t0032 a0001c0011t0019 a0001c0012t0040 others(1): Show a0001c0004t0032 a0001c0011t0019 a0001c0012t0040 a0001c0012t0046	a0001c0004t0032g0279 a0001c0011t0019g0002 a0001c0012t0040g0066 others(1): Show a0001c0004t0032g0279 a0001c0011t0019g0002 a0001c0012t0040g0066 a0001c0012t0046g0186	5	378	0.0132	29	c.21 others(40): Show c.2162_*2163insGGGGGTTGGGGTTGGGGTTGGGAGAACCG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1480		chr16	TogoVar
AXIN1_chr16_282440_357723	285976	G G	GCGGTTCT others(22): Show GCGGTTCTCCCAACCCCAACCCCAACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0187 a0001c0004t0001g0187	1	378	0.0027	29	c.21 others(40): Show c.2145_*2146insGGGGGTTGGGGTTGGGGTTGGGAGAACCG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1463		chr16	TogoVar
AXIN1_chr16_282440_357723	312275	T T	TTTTTACC others(22): Show TTTTTACCTCTGATTTGCTTTCGAGTACAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0258 a0001c0002t0006g0258	1	378	0.0027	29	c.102 others(48): Show c.1020-2207_1020-2206insGTGTACTCGAAAGCAAATCAGAGGTA AAA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	3/10			chr16	TogoVar
AXIN2_chr17_65523563_65566648	65563020	A A	AGTGAAAG others(22): Show AGTGAAAGGCAGAGTCCTGGCCTCAGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA18968.hp1 NA18970.hp2 others(2): Show HG00673.hp2 NA18968.hp1 NA18970.hp2 NA18995.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0054 a0001c0002t0001g0302 a0001c0002t0001g0014 a0001c0002t0001g0054 a0001c0002t0001g0302	5	402	0.0124	29	c.-16 others(40): Show c.-1688_-1687insAGCTCTGAGGCCAGGACTCTGCCTTTCAC	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding		1373		chr17	TogoVar
B3GALT5_chr21_39607940_39678137	39630450	A A	ACAGTGAC others(22): Show ACAGTGACTCACTCGGAACTGCTTGGGAAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01884.hp2 others(6): Show HG01257.hp2 HG01258.hp2 HG01884.hp2 HG02258.hp1 HG02559.hp2 HG02818.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0031 a0002c0002t0004 others(5): Show a0001c0001t0002 a0001c0001t0031 a0002c0002t0004 a0002c0002t0019 a0002c0002t0023 a0002c0002t0040 a0002c0002t0093 a0002c0002t0094	a0001c0001t0002g0036 a0001c0001t0031g0031 a0001c0001t0031g0032 others(6): Show a0001c0001t0002g0036 a0001c0001t0031g0031 a0001c0001t0031g0032 a0002c0002t0004g0034 a0002c0002t0019g0114 a0002c0002t0023g0037 a0002c0002t0040g0038 a0002c0002t0093g0033 a0002c0002t0094g0035	9	336	0.0268	29	c.-39 others(50): Show c.-391-15933_-391-15905dupCACTCGGAACTGCTTGGGAATCAG TGACT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0013 a0002c0002t0009g0013	1	268	0.0037	29	c.-38 others(40): Show c.-3878_-3877insTATATATATATATATATATATATATATTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03209.hp2 HG06807.hp1 HG01243.hp2 HG03209.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0003t0003 a0002c0002t0003 a0002c0003t0003	a0002c0002t0003g0009 a0002c0002t0003g0236 a0002c0003t0003g0026 a0002c0002t0003g0009 a0002c0002t0003g0236 a0002c0003t0003g0026	3	268	0.0112	29	c.-38 others(40): Show c.-3878_-3877insTATATATATATATATATATATATATTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0123 a0001c0001t0024g0123	1	268	0.0037	29	c.-38 others(40): Show c.-3878_-3877insTATATATATATTTTTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02056.hp1 HG02080.hp2 others(5): Show HG01071.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp2 HG02896.hp1 NA18942.hp1 NA18953.hp2 NA19086.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0002c0002t0002 a0003c0004t0004	a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0047 others(5): Show a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0047 a0001c0001t0006g0035 a0001c0001t0006g0056 a0001c0001t0014g0036 a0002c0002t0002g0196 a0003c0004t0004g0205	8	268	0.0299	29	c.106 others(48): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82958944	G G	GTGTGGGG others(22): Show GTGTGGGGGTGTATGTGTGTGTGTGTACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0080 a0001c0012t0001g0080	1	266	0.0038	29	c.681 others(46): Show c.681-1479_681-1451dupGTGTACACACACACACATACACCCCCAC A	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003594	C C	CGTGTGGG others(22): Show CGTGTGGGATTCCTGAGCCCGCCCTCCCGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0221 a0001c0003t0015g0221	1	266	0.0038	29	c.459 others(46): Show c.459+1520_459+1521insCCGGGAGGGCGGGCTCAGGAATCCCACA C	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003881	C C	CGTGTGGG others(22): Show CGTGTGGGATTCCTGAGCCCGCCCTCCCGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19043.hp2 HG02818.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0030 a0001c0006 a0003c0030	a0001c0006t0001 a0003c0030t0011 a0001c0006t0001 a0003c0030t0011	a0001c0006t0001g0016 a0003c0030t0011g0140 a0001c0006t0001g0016 a0003c0030t0011g0140	2	266	0.0075	29	c.459 others(46): Show c.459+1233_459+1234insCCGGGAGGGCGGGCTCAGGAATCCCACA C	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02647.hp2 others(6): Show HG02055.hp1 HG02572.hp2 HG02647.hp2 HG03098.hp2 HG03486.hp2 HG03490.hp2 NA18522.hp1 NA19030.hp2 NA19064.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0011 a0016	a0001c0001 a0001c0002 a0001c0016 others(4): Show a0001c0001 a0001c0002 a0001c0016 a0003c0004 a0007c0008 a0011c0015 a0016c0032	a0001c0001t0001 a0001c0002t0013 a0001c0016t0088 others(5): Show a0001c0001t0001 a0001c0002t0013 a0001c0016t0088 a0003c0004t0008 a0003c0004t0086 a0007c0008t0002 a0011c0015t0039 a0016c0032t0002	a0001c0001t0001g0021 a0001c0002t0013g0175 a0001c0016t0088g0229 others(6): Show a0001c0001t0001g0021 a0001c0002t0013g0175 a0001c0016t0088g0229 a0003c0004t0008g0362 a0003c0004t0086g0302 a0007c0008t0002g0004 a0007c0008t0002g0307 a0011c0015t0039g0303 a0016c0032t0002g0006	9	394	0.0228	29	c.170 others(48): Show c.170-34281_170-34280insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	375187	G G	GGGAGGGA others(22): Show GGGAGGGAGGAGGAAGGGAGGGAGGAGGAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0171 a0001c0003t0002g0171	1	184	0.0054	29	c.784 others(44): Show c.784-273_784-245dupGGAGGGAGGAGGAAGGGAGGGAGGAGGAA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375191	G G	GGGAGGAG others(22): Show GGGAGGAGGAAGGGAGGGAGGAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	184	0.0054	29	c.784 others(44): Show c.784-245_784-244insGGGAGGAGGAGGAAGGGAGGGAGGAGGAA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BABAM2_chr2_27885729_28343901	28139985	A A	AAAACAGA others(22): Show AAAACAGAGTTTATTACTTTTCCTTGTAAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp2 NA18969.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0002g0145 a0001c0001t0001g0142 a0001c0001t0002g0145	2	158	0.0127	29	c.680 others(48): Show c.680+10629_680+10657dupTGTAATAAACAGAGTTTATTACTTTT CCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28196321	C C	CGTCTCAA others(22): Show CGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp1 HG00140.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0082 a0001c0001t0001g0017 a0001c0001t0001g0082	2	158	0.0127	29	c.681 others(48): Show c.681-40881_681-40880insGTCTCAAAAAAAAAAAAAAAAAAAAA AAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	272	0.0037	29	c.312 others(46): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BAG3_chr10_119646380_119682819	119675895	T T	TCCTTCCT others(22): Show TCCTTCCTTCCCCCCTTCCCCCTTTTCCCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	420	0.0024	29	c.910 others(44): Show c.910-563_910-562insTTCCCCCCTTCCCCCTTTTCCCCCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675895	T T	TCCTTCCT others(22): Show TCCTTCCTTCCCCCCTTCCCCTTTTTCCCC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0004 a0012c0012t0004	a0012c0012t0004g0121 a0012c0012t0004g0121	1	420	0.0024	29	c.910 others(44): Show c.910-563_910-562insTTCCCCCCTTCCCCTTTTTCCCCCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 NA19043.hp1 HG02572.hp2 HG02818.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0256	3	298	0.0101	29	c.128 others(46): Show c.128-1893_128-1892insATATATATATATTTTTTTTTTTTTTTTT T	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	298	0.0034	29	c.128 others(46): Show c.128-1893_128-1892insATATATATATATATATTTTTTTTTTTTT T	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02630.hp1 HG01975.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0019 a0001c0002t0001g0141 a0001c0001t0002g0019 a0001c0002t0001g0141	2	298	0.0067	29	c.128 others(46): Show c.128-1893_128-1892insATATATATATATATATATATTTTTTTTT T	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	298	0.0034	29	c.128 others(46): Show c.128-1893_128-1892insATATATATATATATATATATATTTTTTT T	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L2_chr22_38079900_38115684	38084929	T T	TTTACAAA others(22): Show TTTACAAAAGATGTACAGAGAGGGCATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	18	0.0556	29	c.34 others(38): Show c.342_*370dupCACATGCCCTCTCTGTACATCTTTTGTAA	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	14/14	370		chr22	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(22): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01928.hp2 HG01975.hp2 others(2): Show HG01433.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0065 a0002c0002t0002g0077 a0002c0002t0002g0078 others(2): Show a0001c0001t0004g0065 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080	5	376	0.0133	29	c.130 others(46): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	436	0.0023	29	c.15 others(40): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BAP1_chr3_52396008_52415008	52410180	A A	ACGGGACG others(22): Show ACGGGACGGGGGCGAAGGGGAGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 NA20752.hp1 HG00639.hp1 HG00733.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0005	3	348	0.0086	29	c.-30 others(38): Show c.-303_-302insCCCCGCCCCTCCCCTTCGCCCCCGTCCCG	BAP1	ENSG00000163930.10	transcript	ENST00000460680.6	protein_coding		173		chr3	TogoVar
BARD1_chr2_214720646_214814683	214751151	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0030 a0004c0007t0030	a0004c0007t0030g0034 a0004c0007t0030g0034	1	362	0.0028	29	c.167 others(48): Show c.1677+1295_1677+1296insAAAAAAAAATATATATATATATATAT ATA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159377812	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp1 HG02965.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0009g0132 a0002c0002t0001g0128 a0001c0001t0009g0132 a0002c0002t0001g0128	2	216	0.0093	29	c.400 others(48): Show c.4006-3060_4006-3059insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	25/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74035584	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp2 HG02970.hp2 HG03209.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0008 a0006c0005t0008	a0006c0005t0008g0378 a0006c0005t0008g0379 a0006c0005t0008g0378 a0006c0005t0008g0379	2	386	0.0052	29	c.495 others(46): Show c.495+1441_495+1442insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACACAAA others(22): Show CACACAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18968.hp2 NA18964.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0146 a0001c0001t0001g0147	2	398	0.0050	29	c.44 others(40): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTGTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar

Search by Variant

Search

Search Results (Total: 6085 hits)