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.

⚠️ 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
TAFA4_chr3_68726766_68937547	68873337	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	316	0.0032	32	c.130 others(49): Show c.130+7361_130+7392dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TAFA5_chr22_48484553_48756932	48735998	C C	CATCCCCC others(25): Show CATCCCCCCAGGAGGAATGAGAATCGCACTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01071.hp1 others(11): Show HG00140.hp1 HG00639.hp2 HG01071.hp1 HG01175.hp1 HG02258.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG03195.hp2 HG03491.hp1 HG03942.hp2 HG04204.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0038	a0001c0001t0001g0257 a0001c0001t0002g0047 a0001c0001t0002g0075 others(11): Show a0001c0001t0001g0257 a0001c0001t0002g0047 a0001c0001t0002g0075 a0001c0001t0002g0117 a0001c0001t0003g0006 a0001c0001t0003g0073 a0001c0001t0003g0077 a0001c0001t0003g0115 a0001c0001t0003g0138 a0001c0001t0004g0016 a0001c0001t0004g0199 a0001c0001t0005g0119 a0001c0001t0015g0005 a0001c0001t0038g0196	14	258	0.0543	32	c.391 others(51): Show c.391-13840_391-13839insTCCCCCCAGGAGGAATGAGAATCGCA CTCCTA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TALDO1_chr11_742464_770012	760540	T T	TTCTGTCC others(25): Show TTCTGTCCTTCCTCTGTCCTGATCAACACAAGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	416	0.0024	32	c.461 others(47): Show c.461+288_461+319dupTCTGTCCTTCCTCTGTCCTGATCAACACAA GC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TALDO1_chr11_742464_770012	763204	G G	GCCCCCGC others(25): Show GCCCCCGCCCTCACCCGCCCCGCCCTCACCCGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19043.hp1 HG01123.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0257 a0001c0001t0001g0261	2	416	0.0048	32	c.462 others(47): Show c.462-136_462-135insCGCCCTCACCCGCCCCGCCCTCACCCGCCC CC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TALDO1_chr11_742464_770012	763204	G G	GCCCCGCC others(25): Show GCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18985.hp2 NA18990.hp2 others(3): Show NA18947.hp1 NA18985.hp2 NA18990.hp2 NA19004.hp2 NA19062.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0142 a0001c0001t0001g0187 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0142 a0001c0001t0001g0187 a0001c0001t0001g0194	6	416	0.0144	32	c.462 others(47): Show c.462-127_462-126insCGCCCCCGCCCTCACCCGCCCCCGCCCTCA CC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TALDO1_chr11_742464_770012	763236	C C	CCCCCGCC others(25): Show CCCCCGCCCTCACCCGCCCCCGCCCTCACCCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02027.hp2 HG02280.hp2 others(10): Show HG01243.hp1 HG02027.hp2 HG02280.hp2 HG02523.hp2 HG03130.hp1 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18939.hp2 NA18945.hp1 NA18967.hp2 NA19054.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0078 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250	13	416	0.0313	32	c.462 others(45): Show c.462-94_462-93insGCCCCCGCCCTCACCCATCCCCGCCCTCACCC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TALDO1_chr11_742464_770012	763252	T T	TCCCCGCC others(25): Show TCCCCGCCCTCACCCGGCCCCGCCCTCACCTGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	416	0.0024	32	c.462 others(45): Show c.462-79_462-78insCGGCCCCGCCCTCACCTGCCCCCGCCCTCACC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TANC1_chr2_158963640_159237659	159062973	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0021 a0021	a0021c0034 a0021c0034	a0021c0034t0001 a0021c0034t0001	a0021c0034t0001g0104 a0021c0034t0001g0104	1	258	0.0039	32	c.-15 others(49): Show c.-15-2901_-15-2900insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	TANC1	ENSG00000115183.15	transcript	ENST00000263635.8	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
TANC2_chr17_62961235_63432703	63055988	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01346.hp2 HG01256.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0025 a0001c0002t0001 a0001c0002t0025	a0001c0002t0001g0176 a0001c0002t0025g0194 a0001c0002t0001g0176 a0001c0002t0025g0194	2	266	0.0075	32	c.68- others(49): Show c.68-17954_68-17953insTATATATATATATATATATATATATATA TATA	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TANC2_chr17_62961235_63432703	63055990	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	266	0.0038	32	c.68- others(49): Show c.68-17950_68-17919dupATATATATATATATATATATATATATAT ATAT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TANC2_chr17_62961235_63432703	63056022	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	266	0.0038	32	c.68- others(49): Show c.68-17919_68-17918insATATATATATATATATATATATATATAT GCAT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TANGO6_chr16_68838531_69090182	68980409	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	210	0.0048	32	c.284 others(51): Show c.2842+6242_2842+6243insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTAT	TANGO6	ENSG00000103047.8	transcript	ENST00000261778.2	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TAOK1_chr17_29385363_29556903	29468135	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03041.hp1 HG01123.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0277 a0001c0001t0010g0063 a0001c0001t0006g0277 a0001c0001t0010g0063	2	326	0.0061	32	c.204 others(47): Show c.204+936_204+937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK1_chr17_29385363_29556903	29494360	T T	TTAGCTGG others(25): Show TTAGCTGGACATGGTGGTGCACACCTGTAGTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0246 a0001c0001t0027g0246	1	326	0.0031	32	c.832 others(49): Show c.832-1193_832-1162dupGACATGGTGGTGCACACCTGTAGTCCTA GCTG	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARBP1_chr1_234386313_234484179	234451748	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0224 a0003c0011t0001g0224	1	274	0.0037	32	c.172 others(51): Show c.1723-1183_1723-1182insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	9/29			chr1	TogoVar
TARBP2_chr12_53496283_53511431	53498908	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	32	c.-25 others(43): Show c.-2501_-2500insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	TARBP2	ENSG00000139546.12	transcript	ENST00000266987.7	protein_coding		2374		chr12	TogoVar
TARM1_chr19_54064895_54086365	54080019	G G	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19240.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0342 a0001c0004t0001g0343 a0001c0004t0001g0342 a0001c0004t0001g0343	2	409	0.0049	32	c.34+ others(47): Show c.34+1287_34+1288insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	TARM1	ENSG00000248385.8	transcript	ENST00000432826.2	protein_coding	1/4			chr19	TogoVar
TARM1_chr19_54064895_54086365	54080128	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	409	0.0024	32	c.34+ others(47): Show c.34+1178_34+1179insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	TARM1	ENSG00000248385.8	transcript	ENST00000432826.2	protein_coding	1/4			chr19	TogoVar
TAS2R13_chr12_10902926_10914562	10903931	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	407	0.0025	32	c.44 others(43): Show c.4455_*4456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TAS2R13	ENSG00000212128.2	transcript	ENST00000390677.2	protein_coding		3994		chr12	TogoVar
TAS2R16_chr7_122989704_123000700	122990922	T T	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	1	416	0.0024	32	c.38 others(43): Show c.3836_*3837insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	TAS2R16	ENSG00000128519.3	transcript	ENST00000249284.3	protein_coding		3781		chr7	TogoVar
TAS2R19_chr12_11016619_11027620	11027436	A A	AGGTCTAG others(25): Show AGGTCTAGTGTCTAGACACGTTGAACAATCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	417	0.0024	32	c.-48 others(43): Show c.-4866_-4865insAAAGATTGTTCAACGTGTCTAGACACTAGACC	TAS2R19	ENSG00000212124.2	transcript	ENST00000390673.2	protein_coding		4817		chr12	TogoVar
TAS2R1_chr5_9622347_9635351	9633294	T T	TATTATAT others(25): Show TATTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	458	0.0044	32	c.-32 others(43): Show c.-3263_-3262insTATATATATATATATATATATATATATATAAT	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2944		chr5	TogoVar
TAS2R1_chr5_9622347_9635351	9633294	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01261.hp2 HG04228.hp2 HG01106.hp2 HG01261.hp2 HG04228.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0005c0007t0001 a0001c0001t0001 a0001c0001t0002 a0005c0007t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0005c0007t0001g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0005c0007t0001g0000	3	458	0.0066	32	c.-32 others(43): Show c.-3263_-3262insTATATATATATATATATATATATATATATATA	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2944		chr5	TogoVar
TAS2R1_chr5_9622347_9635351	9633319	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0000 a0001c0001t0015g0000	2	458	0.0044	32	c.-32 others(43): Show c.-3288_-3287insGTATGTATATATATATATATATATATATATAT	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2969		chr5	TogoVar
TAS2R43_chr12_11086287_11097313	11091115	C C	CACACACA others(25): Show CACACACATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	200	0.0050	32	c.18 others(41): Show c.184_*185insATATATATATATATATATATATATATGTGTGT	TAS2R43	ENSG00000255374.3	transcript	ENST00000531678.1	protein_coding		171		chr12	TogoVar
TAS2R43_chr12_11086287_11097313	11091115	C C	CACACATA others(25): Show CACACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01891.hp2 NA19074.hp2 others(1): Show HG00423.hp2 HG01891.hp2 NA19074.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	200	0.0200	32	c.18 others(41): Show c.184_*185insATATATATATATATATATATATATATATGTGT	TAS2R43	ENSG00000255374.3	transcript	ENST00000531678.1	protein_coding		171		chr12	TogoVar
TASL_chrX_30553809_30582766	30571256	G G	GAAAGAGA others(25): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG02155.hp2 others(6): Show HG00639.hp2 HG01175.hp1 HG02155.hp2 HG02970.hp1 HG03471.hp1 HG03486.hp2 NA18966.hp1 NA18986.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0091 others(6): Show a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0091 a0001c0001t0001g0134 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0206 a0001c0004t0001g0182	9	318	0.0283	32	c.-2+ others(47): Show c.-2+5495_-2+5496insTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TT	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding	2/2			chrX	TogoVar
TATDN2_chr3_10243459_10286218	10257294	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19004.hp1 NA19055.hp1 NA18964.hp2 NA19004.hp1 NA19055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0012 a0004c0004t0002 a0004c0004t0012	a0004c0004t0002g0114 a0004c0004t0002g0121 a0004c0004t0012g0084 a0004c0004t0002g0114 a0004c0004t0002g0121 a0004c0004t0012g0084	3	366	0.0082	32	c.415 others(49): Show c.415-2824_415-2823insATATATATATATATATATATATATATAT ATAT	TATDN2	ENSG00000157014.11	transcript	ENST00000448281.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAT_chr16_71560660_71582092	71579083	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01928.hp2 HG00733.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	372	0.0054	32	c.-20 others(43): Show c.-2088_-2087insCATATATATATATATATATATATATATATATA	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1992		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	32	c.-20 others(43): Show c.-2089_-2088insATACATATATATATATATATATATATATATAT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TBC1D10A_chr22_30286990_30331941	30308300	A A	ATGCATGC others(25): Show ATGCATGCCTGCCTGCCTGCCTGCATGCCTGCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19240.hp2 HG01496.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0057 a0001c0001t0001g0058	2	388	0.0052	32	c.210 others(49): Show c.210-3671_210-3670insGGCAGGCATGCAGGCAGGCAGGCAGGCA TGCA	TBC1D10A	ENSG00000099992.16	transcript	ENST00000215790.12	protein_coding	1/8			chr22	TogoVar
TBC1D10A_chr22_30286990_30331941	30308324	A A	ATGCCTGC others(25): Show ATGCCTGCCTGCCTGCATGCCTGCATGCCTGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG02717.hp1 others(6): Show HG01243.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG03209.hp1 HG03225.hp1 NA18522.hp2 NA18978.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0041 a0001c0001t0001g0185 a0001c0001t0004g0051 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0185 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0003t0001g0269 a0001c0003t0001g0279	9	388	0.0232	32	c.210 others(49): Show c.210-3695_210-3694insGGCAGGCATGCAGGCATGCAGGCAGGCA GGCA	TBC1D10A	ENSG00000099992.16	transcript	ENST00000215790.12	protein_coding	1/8			chr22	TogoVar
TBC1D12_chr10_94397541_94541332	94527082	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp1 HG03139.hp1 others(1): Show HG02723.hp1 HG02886.hp1 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0341 a0001c0001t0005g0200 a0001c0001t0005g0201 others(1): Show a0001c0001t0001g0341 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0203	4	346	0.0116	32	c.200 others(51): Show c.2001-4096_2001-4095insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	TBC1D12	ENSG00000108239.9	transcript	ENST00000225235.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
TBC1D13_chr9_128782253_128815430	128808408	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 NA18949.hp2 HG01081.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0003 a0001c0001t0055g0238 a0001c0001t0055g0003 a0001c0001t0055g0238	2	398	0.0050	32	c.54 others(41): Show c.546_*577dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TBC1D13	ENSG00000107021.16	transcript	ENST00000372648.10	protein_coding	12/12	578	INFO_REALIGN_3_PRIME	chr9	TogoVar
TBC1D22A_chr22_46757650_47180693	46904097	A A	ATCTATCT others(25): Show ATCTATCTATCTATCTGTCTGTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	112	0.0089	32	c.901 others(49): Show c.901-7962_901-7961insGTCTGTCTGTCTGTCTGTCTATCTATCT ATCT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46904142	T T	TCTATCTA others(25): Show TCTATCTATCTATCTGCCTACCTACCTACCTAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0033 a0001c0004t0022g0033	1	112	0.0089	32	c.901 others(49): Show c.901-7929_901-7928insTCTATCTATCTGCCTACCTACCTACCTA CCTA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47043975	G G	GTGCTGGG others(25): Show GTGCTGGGGAGGAGCCTGTCTGAGCGGGGCAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp2 others(46): Show HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01978.hp2 HG02074.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18962.hp1 NA18962.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0002t0001 a0001c0002t0005 a0002c0003t0003 a0002c0003t0009	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0047 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0003g0026 a0001c0001t0003g0063 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0003g0102 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0053 a0001c0001t0004g0092 a0001c0001t0005g0041 a0001c0001t0005g0050 a0001c0001t0005g0055 a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0006g0112 a0001c0001t0008g0036 a0001c0001t0008g0044 a0001c0001t0008g0100 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0015g0006 a0001c0001t0019g0109 a0001c0001t0020g0038 a0001c0001t0023g0103 a0001c0002t0001g0001 a0001c0002t0005g0011 a0002c0003t0003g0028 a0002c0003t0009g0034	49	112	0.4375	32	c.132 others(51): Show c.1329+6801_1329+6802insGGGGCAGATGCTGGGGAGGAGCCTGT CTGAGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47117300	T T	TCCACACC others(25): Show TCCACACCGTGGCATCGAGCAGGGAGAGTCACC	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20300.hp2 HG00639.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0084 a0001c0001t0007g0082 a0001c0001t0001g0084 a0001c0001t0007g0082	2	112	0.0179	32	c.142 others(51): Show c.1425+5961_1425+5992dupGTGGCATCGAGCAGGGAGAGTCACCC CACACC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D26_chr17_15727283_15749782	15730704	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	464	0.0022	32	c.-18 others(43): Show c.-1823_-1822insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	TBC1D26	ENSG00000214946.15	transcript	ENST00000437605.4	protein_coding		1578		chr17	TogoVar
TBC1D28_chr17_18629247_18649391	18634788	C C	CGCCCCTC others(25): Show CGCCCCTCAGCCCCTCAGCCCCTCAGCCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02735.hp1 HG01496.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0025 a0001c0001t0012g0025	2	466	0.0043	32	c.16 others(43): Show c.1673_*1674insTGAGGGGCTGAGGGGCTGAGGGGCTGAGGGGC	TBC1D28	ENSG00000189375.12	transcript	ENST00000405044.7	protein_coding	10/10	1673		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(25): Show GCGCGCGCACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0069 a0001c0002t0016g0069	1	280	0.0036	32	c.74 others(43): Show c.7488_*7489insTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77990671	G G	GCGCGCGC others(25): Show GCGCGCGCGCGCGCGCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0200 a0002c0003t0001g0200	1	280	0.0036	32	c.74 others(43): Show c.7488_*7489insTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		4313		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992805	T T	TCCCCCCC others(25): Show TCCCCCCCACTCCCCCCACTCCCCCCCCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	280	0.0036	32	c.53 others(43): Show c.5354_*5355insGGAGTGGGGGGGGAGTGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2179		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040838	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGGAAGGAAGGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02572.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0263 a0002c0003t0015g0264 a0002c0003t0015g0263 a0002c0003t0015g0264	2	280	0.0071	32	c.683 others(49): Show c.683+4061_683+4062insCTTTCTTTCTTCCTTCCTTCCTTTCTTT CTTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03239.hp2 HG02451.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0019 a0001c0002t0007 a0001c0002t0019	a0001c0002t0007g0048 a0001c0002t0019g0043 a0001c0002t0007g0048 a0001c0002t0019g0043	2	280	0.0071	32	c.683 others(49): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(25): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG01175.hp2 others(26): Show HG00140.hp2 HG00423.hp2 HG01175.hp2 HG01496.hp2 HG02080.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03486.hp1 HG03492.hp2 HG03654.hp1 HG03927.hp2 HG04115.hp2 NA18943.hp1 NA18966.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA19002.hp2 NA19011.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19088.hp1 NA19089.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0004c0006	a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 others(5): Show a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 a0001c0002t0009 a0001c0005t0035 a0002c0003t0001 a0002c0003t0009 a0004c0006t0001	a0001c0001t0004g0160 a0001c0001t0004g0166 a0001c0001t0004g0172 others(25): Show a0001c0001t0004g0160 a0001c0001t0004g0166 a0001c0001t0004g0172 a0001c0001t0004g0180 a0001c0001t0004g0186 a0001c0001t0004g0190 a0001c0001t0022g0149 a0001c0001t0022g0150 a0001c0002t0001g0060 a0001c0002t0009g0002 a0001c0005t0035g0020 a0002c0003t0001g0197 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0208 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0223 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0227 a0002c0003t0001g0244 a0002c0003t0001g0246 a0002c0003t0001g0254 a0002c0003t0009g0259 a0002c0003t0009g0261 a0004c0006t0001g0226	29	280	0.1036	32	c.683 others(49): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTTCTT CCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02572.hp1 HG03942.hp2 others(1): Show HG01952.hp2 HG02572.hp1 HG03942.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0220 a0002c0003t0001g0241 a0002c0003t0001g0265 others(1): Show a0002c0003t0001g0220 a0002c0003t0001g0241 a0002c0003t0001g0265 a0002c0003t0001g0266	4	280	0.0143	32	c.683 others(49): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTTCTTCCTT CCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040855	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0252 a0002c0003t0001g0252	1	280	0.0036	32	c.683 others(49): Show c.683+4044_683+4045insTCTTTCTTTCTTTCTTTCTTCCTTCCTT CCTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D2_chr9_98194011_98260649	98209756	T T	TTCCCTTC others(25): Show TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0263 a0002c0003t0001g0263	1	366	0.0027	32	c.167 others(49): Show c.1674-613_1674-612insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGGA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	8/12			chr9	TogoVar
TBC1D3D_chr17_37998976_38019908	38013806	G G	GTCCCAGG others(25): Show GTCCCAGGAGCCACCCGCCATGCCACGACAGCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0008 a0011c0017t0008	a0011c0017t0008g0055 a0011c0017t0008g0055	1	66	0.0152	32	c.108 others(49): Show c.1082-214_1082-183dupAGGAGCCACCCGCCATGCCACGACAGCT TCCC	TBC1D3D	ENSG00000274419.7	transcript	ENST00000616101.5	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)