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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	428	0.0023	32	c.-41 others(43): Show c.-4104_-4103insGTGTGTGTATATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01258.hp1 HG01516.hp1 others(2): Show HG00438.hp2 HG01258.hp1 HG01516.hp1 NA18966.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0031 others(1): Show a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0031 a0002c0002t0001g0009	5	428	0.0117	32	c.-41 others(43): Show c.-4104_-4103insGTATATATATATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(25): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02602.hp2 HG02922.hp1 others(2): Show HG00735.hp1 HG02602.hp2 HG02922.hp1 HG03195.hp2 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0042 a0003c0007t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0042 a0003c0007t0001g0023	5	410	0.0122	32	c.41 others(43): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	76	0.0132	32	c.310 others(51): Show c.310-28820_310-28819insATATATATATATATATATATATATAT ATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003479	A A	ATATATAT others(25): Show ATATATATAATATATATGAATATGTTATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01934.hp1 others(2): Show HG00280.hp1 HG00597.hp1 HG01934.hp1 HG03139.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0071 a0001c0001t0002g0047 a0001c0001t0002g0052 others(2): Show a0001c0001t0001g0071 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0003g0068 a0001c0001t0004g0042	5	76	0.0658	32	c.522 others(53): Show c.522+104078_522+104109dupTATATATAATATATATGAATATGT TATATATG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70177300	A A	AGTGAGGA others(25): Show AGTGAGGAGCCTGAGGCTTAGATTCAGAAACCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	76	0.0132	32	c.660 others(51): Show c.660+42735_660+42766dupGAGCCTGAGGCTTAGATTCAGAAACC TGTGAG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	76	0.0132	32	c.691 others(53): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	266	0.0038	32	c.446 others(51): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0238 a0001c0001t0114g0238	1	330	0.0030	32	c.93+ others(47): Show c.93+7566_93+7567insCACACACACACACACACACACACACACACA CA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579430	A A	AATATATA others(25): Show AATATATATATAATATATAATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp2 HG01258.hp1 others(2): Show HG01074.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0040 a0001c0004t0085 others(1): Show a0001c0004t0021 a0001c0004t0040 a0001c0004t0085 a0001c0004t0109	a0001c0004t0021g0160 a0001c0004t0021g0162 a0001c0004t0040g0159 others(2): Show a0001c0004t0021g0160 a0001c0004t0021g0162 a0001c0004t0040g0159 a0001c0004t0085g0158 a0001c0004t0109g0161	5	330	0.0152	32	c.168 others(49): Show c.1689-789_1689-788insATATATATATAATATATAATATTATATT ATAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15			chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19240.hp2 NA18944.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0214 a0002c0002t0002g0094 a0001c0001t0001g0214 a0002c0002t0002g0094	2	446	0.0045	32	c.287 others(47): Show c.287+707_287+738dupACACACACACACACACACACACACACACAC AC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63153334	C C	CTATCTAT others(25): Show CTATCTATCTATCTATCTATCTATCTATCTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03516.hp1 HG02976.hp2 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0021 a0002c0003t0011g0021	2	448	0.0045	32	c.-24 others(43): Show c.-2499_-2498insAATAGATAGATAGATAGATAGATAGATAGATA	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		2134		chr12	TogoVar
AXIN1_chr16_282440_357723	343594	T T	TCGGGAGG others(25): Show TCGGGAGGCTGAGGCAGGAGACTCACTTGAACC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	378	0.0027	32	c.878 others(49): Show c.878+2522_878+2553dupGGTTCAAGTGAGTCTCCTGCCTCAGCCT CCCG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
B3GALT1_chr2_167288001_167879045	167876005	A A	ATATATAT others(25): Show ATATATATATATACGTATATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0074 a0001c0001t0042g0074	1	118	0.0085	32	c.59 others(43): Show c.5985_*5986insTATATATATATACGTATATATATATATATACG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1961		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876093	A A	ATATATGT others(25): Show ATATATGTATATATATATACGTATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	118	0.0085	32	c.60 others(43): Show c.6073_*6074insTATATGTATATATATATACGTATATATATATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		2049		chr2	TogoVar
B3GLCT_chr13_31194975_31337276	31196186	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	268	0.0037	32	c.-38 others(43): Show c.-3899_-3898insATATATATATATATATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3788		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0010 a0002c0010t0003g0010	1	268	0.0037	32	c.-38 others(43): Show c.-3878_-3877insTATATATATATATATATATATATATATATATT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	268	0.0037	32	c.-38 others(43): Show c.-3878_-3877insTATATATATATATATATATATATATTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA20300.hp1 NA18979.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0204 a0002c0002t0002g0082 a0001c0001t0005g0204 a0002c0002t0002g0082	2	268	0.0075	32	c.-38 others(43): Show c.-3878_-3877insTATATATATATATATATATTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0094 a0002c0002t0003g0094	1	268	0.0037	32	c.-38 others(43): Show c.-3878_-3877insTATATATATATATATATTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(25): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0261 a0001c0001t0025g0261	1	268	0.0037	32	c.-38 others(43): Show c.-3878_-3877insTATATATATTTTTTTTTTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02818.hp2 HG03471.hp2 others(2): Show HG01361.hp1 HG02818.hp2 HG03471.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0005 a0001c0001t0007 a0002c0002t0002 others(1): Show a0001c0001t0005 a0001c0001t0007 a0002c0002t0002 a0007c0009t0002	a0001c0001t0005g0202 a0001c0001t0007g0015 a0001c0001t0007g0027 others(2): Show a0001c0001t0005g0202 a0001c0001t0007g0015 a0001c0001t0007g0027 a0002c0002t0002g0087 a0007c0009t0002g0264	5	268	0.0187	32	c.106 others(51): Show c.1065-1135_1065-1134insTATATATATATATATATATATATATA TATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17807111	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19012.hp1 NA19085.hp1 NA18983.hp1 NA19012.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0003g0073 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0003g0073	3	406	0.0074	32	c.-50 others(47): Show c.-50-644_-50-613dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82946569	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01109.hp1 others(5): Show HG00280.hp1 HG00741.hp2 HG01109.hp1 HG01496.hp2 HG01516.hp1 HG04199.hp2 NA18612.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0006 a0001c0003t0009 a0001c0006t0006 a0001c0001t0006 a0001c0003t0009 a0001c0006t0006	a0001c0001t0006g0153 a0001c0001t0006g0157 a0001c0001t0006g0159 others(5): Show a0001c0001t0006g0153 a0001c0001t0006g0157 a0001c0001t0006g0159 a0001c0001t0006g0164 a0001c0001t0006g0182 a0001c0003t0009g0209 a0001c0006t0006g0006 a0001c0006t0006g0038	8	266	0.0301	32	c.24 others(47): Show c.24+309_*24+310insACACACACACACACACACACACACACACAC AC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	12/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82958798	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTATACTGTGTGGGGGTGTATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02818.hp2 others(6): Show HG01891.hp2 HG02630.hp1 HG02818.hp2 HG03041.hp1 HG03225.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0006t0011 a0001c0006t0018 a0001c0011t0011 a0001c0014t0018	a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 others(6): Show a0001c0001t0001g0186 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0006t0001g0016 a0001c0006t0011g0018 a0001c0006t0018g0015 a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0014t0018g0049	9	266	0.0338	32	c.681 others(49): Show c.681-1336_681-1305dupCATACACCCCCACACAGTATACACACAC ACAC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	8/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972611	A A	ACACCACA others(25): Show ACACCACACCACGGGCCAGAAGGACCTGGTGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	266	0.0038	32	c.460 others(49): Show c.460-6866_460-6865insGGCACCAGGTCCTTCTGGCCCGTGGTGT GGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375120	G G	GGAGGAAG others(25): Show GGAGGAAGGGAGGGAGGAGGAAGGGAGGGGAGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0003 a0007c0011t0003	a0007c0011t0003g0020 a0007c0011t0003g0020	1	184	0.0054	32	c.784 others(47): Show c.784-313_784-312insGAGTGAGGAAGGGAGGGAGGAGGAAGGGAG GG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33111276	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0293 a0001c0001t0066g0293	1	366	0.0027	32	c.21 others(43): Show c.2177_*2178insGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	6/6	2177		chr9	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0174 a0001c0001t0023g0174	1	366	0.0027	32	c.412 others(49): Show c.412+9663_412+9694dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
BABAM2_chr2_27885729_28343901	28026852	T T	TTATATAT others(25): Show TTATATATATAAATATATATAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	158	0.0063	32	c.495 others(49): Show c.495+1442_495+1443insAATATATATAAATATATATTTATATATA TATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28026897	A A	AATATATA others(25): Show AATATATATAAATATATATTAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 HG02723.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0130 a0001c0001t0002g0132	2	158	0.0127	32	c.495 others(49): Show c.495+1527_495+1558dupTTAATATATATAAATATATATATAAATA TATA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG02622.hp1 others(1): Show HG00738.hp1 HG01081.hp1 HG02622.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0002g0033 a0001c0001t0002g0037 others(1): Show a0001c0001t0001g0084 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0039	4	158	0.0253	32	c.571 others(51): Show c.571-17075_571-17074insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112193	C C	CCTTCCCT others(25): Show CCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	158	0.0063	32	c.571 others(51): Show c.571-17077_571-17076insTTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	158	0.0063	32	c.571 others(51): Show c.571-17071_571-17070insCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	158	0.0063	32	c.571 others(51): Show c.571-17071_571-17070insCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTCCCT others(25): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	158	0.0063	32	c.571 others(51): Show c.571-17071_571-17070insCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28112197	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02970.hp2 HG03017.hp1 others(1): Show HG02027.hp1 HG02970.hp2 HG03017.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0063 a0001c0001t0002g0064 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0158	4	158	0.0253	32	c.571 others(51): Show c.571-17073_571-17042dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28196321	C C	CGTCTCAA others(25): Show CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	158	0.0063	32	c.681 others(51): Show c.681-40881_681-40880insGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0129 a0001c0002t0129	a0001c0002t0129g0191 a0001c0002t0129g0191	1	194	0.0052	32	c.-16 others(51): Show c.-161-3183_-161-3182insATATATATATATATATATATATATTT TTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAD_chr11_64264830_64289665	64270406	C C	CGTGAGCC others(25): Show CGTGAGCCTTCCTCTAAGTGAGATCGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0241	1	388	0.0026	32	c.379 others(46): Show c.379-101_379-70dupTCCCCCCCGATCTCACTTAGAGGAAGGCTCA C	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTTCCC others(25): Show TCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	420	0.0024	32	c.910 others(47): Show c.910-571_910-570insCCCCTTCCCCTTTTCCCCCCTTCCCCCCTT CC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675919	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02818.hp2 others(6): Show HG01891.hp2 HG02258.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0001g0209 a0001c0001t0001g0210 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0003g0230	9	420	0.0214	32	c.910 others(47): Show c.910-542_910-541insTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675919	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0313 a0001c0001t0006g0313	1	420	0.0024	32	c.910 others(47): Show c.910-542_910-541insTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CT	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(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19085.hp1 HG01943.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0149 a0001c0002t0001g0140 a0001c0002t0001g0149	2	298	0.0067	32	c.128 others(49): Show c.128-1893_128-1892insATATATATATATATATATATATTTTTTT TTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19081.hp2 NA18999.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0196 a0001c0002t0001g0145 a0001c0002t0001g0196	2	298	0.0067	32	c.128 others(49): Show c.128-1893_128-1892insATATATATATATATATATATATATTTTT TTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0194	1	298	0.0034	32	c.128 others(49): Show c.128-1893_128-1892insATATATATATATATATATATATATATTT TTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98393048	T T	TGTACATA others(25): Show TGTACATATATGTACACATATATGTATATACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 NA18960.hp1 others(2): Show HG00408.hp1 HG00438.hp2 NA18960.hp1 NA18965.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0015 a0001c0002t0001 a0001c0002t0015	a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 others(2): Show a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0217 a0001c0002t0015g0134	5	298	0.0168	32	c.51+ others(47): Show c.51+7753_51+7754insGTGTATATACATATATGTGTACATATATGT AC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(25): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03927.hp1 NA18984.hp1 others(1): Show HG02723.hp2 HG03927.hp1 NA18984.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0003g0014 others(1): Show a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0003g0014 a0001c0001t0004g0273	4	376	0.0106	32	c.131 others(47): Show c.131-970_131-939dupGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119229	T T	TGGGGCCG others(25): Show TGGGGCCGGGAAGGAGCGGGGCCGGGAAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02451.hp2 others(1): Show HG01884.hp1 HG02055.hp1 HG02451.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0030 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0030 a0001c0001t0045	a0001c0001t0003g0063 a0001c0001t0005g0263 a0001c0001t0030g0264 others(1): Show a0001c0001t0003g0063 a0001c0001t0005g0263 a0001c0001t0030g0264 a0001c0001t0045g0351	4	376	0.0106	32	c.33 others(43): Show c.3390_*3391insGGGGCCGGGAAGGAGCGGGGCCGGGAAGGAGC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1796		chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81119342	C C	CCGCGTGC others(25): Show CCGCGTGCCCTGCCTCCCGCGTGCCCTACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0291 a0001c0001t0022g0291	1	376	0.0027	32	c.35 others(43): Show c.3503_*3504insCGCGTGCCCTGCCTCCCGCGTGCCCTACCTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding		1909		chr17	TogoVar

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Search Results (Total: 10000 hits)