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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
C11orf16_chr11_8915076_8937947	8934898	GCATCATC others(4): Show GCATCATCGCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	410	0.0024	-11	c.-20 others(22): Show c.-2027_-2017delTAGCGATGATG		C11orf16	ENSG00000176029.14	transcript	ENST00000326053.10	protein_coding					1952		chr11	TogoVar
C11orf21_chr11_2290628_2306918	2293042	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(86): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18952.hp1 NA18952.hp2 NA18961.hp1 NA18969.hp1 NA18977.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19043.hp1 NA19067.hp2 NA19083.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0024 a0001c0003t0004 a0001c0003t0005 a0002c0002t0001 a0003c0004t0003 a0003c0004t0018	a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0003g0055 others(19): Show a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0003g0055 a0001c0001t0006g0009 a0001c0001t0006g0012 a0001c0001t0013g0026 a0001c0001t0024g0078 a0001c0003t0004g0004 a0001c0003t0004g0057 a0001c0003t0005g0005 a0001c0003t0005g0024 a0001c0003t0005g0063 a0001c0003t0005g0064 a0001c0003t0005g0065 a0002c0002t0001g0001 a0003c0004t0003g0003 a0003c0004t0003g0045 a0003c0004t0003g0048 a0003c0004t0003g0049 a0003c0004t0003g0050 a0003c0004t0003g0053 a0003c0004t0018g0046	89	426	0.2089	-11	c.48 others(22): Show c.4897_*4907delAAAAAAAAAAA		C11orf21	ENSG00000110665.12	transcript	ENST00000381153.8	protein_coding					2585		chr11	TogoVar
C11orf52_chr11_111913913_111931871	111926792	GGCCTGGA others(4): Show GGCCTGGAAACT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02630.hp1 HG02647.hp2 others(6): Show HG02280.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG03209.hp1 HG03225.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	9	356	0.0253	-11	c.59 others(20): Show c.594_*604delGCCTGGAAACT		C11orf52	ENSG00000149300.10	transcript	ENST00000278601.6	protein_coding	4/4				594		chr11	TogoVar
C11orf54_chr11_93736672_93769749	93740433	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02818.hp1 HG02818.hp2 others(1): Show HG01099.hp2 HG02818.hp1 HG02818.hp2 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0005c0005t0004	a0001c0001t0004g0223 a0001c0001t0008g0032 a0001c0001t0011g0182 others(1): Show a0001c0001t0004g0223 a0001c0001t0008g0032 a0001c0001t0011g0182 a0005c0005t0004g0226	4	364	0.0110	-11	c.-13 others(22): Show c.-1392_-1382delAAAAAAAAAAA		C11orf54	ENSG00000182919.15	transcript	ENST00000354421.8	protein_coding					1238		chr11	TogoVar
C11orf58_chr11_16733647_16763340	16751958	TGAGATTG others(4): Show TGAGATTGCCAC	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19055.hp1 NA19084.hp1 NA18977.hp1 NA19055.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166	3	384	0.0078	-11	c.209 others(26): Show c.209-824_209-814delGATTGCCACGA		C11orf58	ENSG00000110696.10	transcript	ENST00000228136.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
C11orf58_chr11_16733647_16763340	16754546	CCTTTTTT others(4): Show CCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0059 a0001c0001t0012g0059	1	384	0.0026	-11	c.319 others(26): Show c.319-324_319-314delCTTTTTTTTTT		C11orf58	ENSG00000110696.10	transcript	ENST00000228136.9	protein_coding	4/4						chr11	TogoVar
C11orf65_chr11_108377755_108472529	108408018	ATTATTAT others(4): Show ATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	330	0.0030	-11	c.175 others(26): Show c.175-880_175-870delAATAATAATAA		C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8						chr11	TogoVar
C11orf65_chr11_108377755_108472529	108437707	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp2 HG03139.hp1 HG01109.hp1 HG02572.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0034	3	330	0.0091	-11	c.82- others(26): Show c.82-5880_82-5870delTTTTTTTTTTT		C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	2/8						chr11	TogoVar
C11orf65_chr11_108377755_108472529	108470685	ACTACAGG others(4): Show ACTACAGGCGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18957.hp1 NA18979.hp1 others(2): Show NA18942.hp2 NA18957.hp1 NA18979.hp1 NA18995.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 others(2): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0283	5	330	0.0152	-11	c.-32 others(22): Show c.-3235_-3225delGGCGCCTGTAG		C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding					3157		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394178	CGTTTCTT others(4): Show CGTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18967.hp2 NA18960.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	422	0.0047	-11	c.57 others(22): Show c.5771_*5781delAGAAAAGAAAC		C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding					4353		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394188	CTTTTCTT others(4): Show CTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01928.hp1 HG01981.hp1 others(11): Show HG01081.hp2 HG01928.hp1 HG01981.hp1 HG02027.hp1 HG02083.hp2 HG02523.hp2 HG02630.hp2 HG03098.hp1 HG03130.hp2 NA18982.hp2 NA18987.hp2 NA19058.hp1 NA19085.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0009g0000	14	422	0.0332	-11	c.57 others(22): Show c.5761_*5771delAGAAAAGAAAA		C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding					4343		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394208	CTTTTCTT others(4): Show CTTTTCTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	422	0.0024	-11	c.57 others(22): Show c.5741_*5751delAGAAAAGAAAA		C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding					4323		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114402382	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02738.hp1 HG02895.hp1 others(5): Show HG02630.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG03098.hp2 HG03453.hp1 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0005g0000 a0001c0001t0015g0000	8	422	0.0190	-11	c.-20 others(22): Show c.-2062_-2052delAAAAAAAAAAA		C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding					1872		chr11	TogoVar
C11orf86_chr11_66970304_66982009	66979309	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	-11	c.30 others(22): Show c.3059_*3069delAAAAAAAAAAA		C11orf86	ENSG00000173237.5	transcript	ENST00000683896.1	protein_coding					2301		chr11	TogoVar
C11orf86_chr11_66970304_66982009	66981969	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	-11	c.57 others(22): Show c.5719_*5729delAAAAAAAAAAA		C11orf86	ENSG00000173237.5	transcript	ENST00000683896.1	protein_coding					4961		chr11	TogoVar
C12orf42_chr12_103296955_103500968	103462096	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp1 HG02258.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0056 a0001c0001t0005g0260 a0001c0001t0001g0056 a0001c0001t0005g0260	2	262	0.0076	-11	c.78+ others(28): Show c.78+16242_78+16252delAAAAAAAAAAA		C12orf42	ENSG00000179088.16	transcript	ENST00000548883.6	protein_coding	2/5						chr12	TogoVar
C12orf43_chr12_120995486_121021487	121012849	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	418	0.0024	-11	c.146 others(28): Show c.146-1714_146-1704delTTTTTTTTTTT		C12orf43	ENSG00000157895.11	transcript	ENST00000288757.7	protein_coding	1/5						chr12	TogoVar
C12orf4_chr12_4482735_4543469	4527589	TGAAATGG others(4): Show TGAAATGGATAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01952.hp1 others(13): Show HG01167.hp2 HG01169.hp2 HG01952.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033	16	220	0.0727	-11	c.507 others(28): Show c.507-2017_507-2007delTTATCCATTTC		C12orf4	ENSG00000047621.12	transcript	ENST00000261250.8	protein_coding	4/13						chr12	TogoVar
C12orf4_chr12_4482735_4543469	4537960	AACTTGTT others(4): Show AACTTGTTTATT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	220	0.0046	-11	c.-26 others(26): Show c.-26+438_-26+448delAATAAACAAGT		C12orf4	ENSG00000047621.12	transcript	ENST00000261250.8	protein_coding	1/13						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64287259	AAAAAGAA others(4): Show AAAAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	312	0.0032	-11	c.111 others(30): Show c.1114-1210_1114-1200delCTTCTTCTTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	6/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308929	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp2 HG01099.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0257 a0001c0001t0002g0239 a0001c0001t0002g0257	2	312	0.0064	-11	c.968 others(28): Show c.968+3739_968+3749delCTTTCTTTCTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64360506	GTAGATAG others(4): Show GTAGATAGATGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	312	0.0032	-11	c.253 others(28): Show c.253-7461_253-7451delTCATCTATCTA		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64380104	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	312	0.0032	-11	c.252 others(30): Show c.252+10199_252+10209delTTTTTTTTTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64380124	AAAAAAAA others(4): Show AAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG02895.hp1 others(6): Show HG02109.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA18522.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0002c0002 a0002c0005 others(1): Show a0001c0007 a0002c0002 a0002c0005 a0004c0008	a0001c0007t0004 a0002c0002t0001 a0002c0005t0005 others(1): Show a0001c0007t0004 a0002c0002t0001 a0002c0005t0005 a0004c0008t0002	a0001c0007t0004g0174 a0001c0007t0004g0176 a0002c0002t0001g0183 others(6): Show a0001c0007t0004g0174 a0001c0007t0004g0176 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0005t0005g0179 a0002c0005t0005g0180 a0002c0005t0005g0185 a0002c0005t0005g0186 a0004c0008t0002g0175	9	312	0.0289	-11	c.252 others(30): Show c.252+10179_252+10189delGTTTTTTTTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64380129	AAAAAACA others(4): Show AAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03831.hp1 HG02273.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0030 a0002c0002t0003g0014 a0001c0001t0002g0030 a0002c0002t0003g0014	2	312	0.0064	-11	c.252 others(30): Show c.252+10174_252+10184delGTTTTGTTTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12						chr12	TogoVar
C12orf56_chr12_64259762_64395758	64387077	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA18959.hp1 HG03017.hp1 NA18959.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0002 a0001c0001t0002 a0004c0006t0002	a0001c0001t0002g0087 a0004c0006t0002g0129 a0001c0001t0002g0087 a0004c0006t0002g0129	2	312	0.0064	-11	c.252 others(28): Show c.252+3226_252+3236delTTTTTTTTTTT		C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12						chr12	TogoVar
C12orf57_chr12_6939022_6951002	6945343	GGTGTTTC others(4): Show GGTGTTTCAGCT	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	427	0.0023	-11	c.230 others(26): Show c.230-427_230-417delGTGTTTCAGCT		C12orf57	ENSG00000111678.11	transcript	ENST00000229281.6	protein_coding	2/2						chr12	TogoVar
C12orf75_chr12_105325691_105376518	105356438	GCTTTTTT others(4): Show GCTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	408	0.0025	-11	c.71+ others(26): Show c.71+7813_71+7823delCTTTTTTTTTT		C12orf75	ENSG00000235162.9	transcript	ENST00000443585.6	protein_coding	2/5						chr12	TogoVar
C12orf76_chr12_110036177_110053522	110051904	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02280.hp1 HG02451.hp2 others(7): Show HG01167.hp1 HG02280.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG02976.hp2 HG03130.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0012 a0002c0002t0003 a0002c0002t0012	a0002c0002t0003g0007 a0002c0002t0012g0071 a0002c0002t0003g0007 a0002c0002t0012g0071	10	356	0.0281	-11	c.-34 others(22): Show c.-3420_-3410delAAAAAAAAAAA		C12orf76	ENSG00000174456.16	transcript	ENST00000615315.2	protein_coding					3383		chr12	TogoVar
C14orf119_chr14_23090505_23105456	23096508	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0044 a0001c0001t0048g0044	1	444	0.0023	-11	c.-2+ others(24): Show c.-2+905_-2+915delAAAAAAAAAAA		C14orf119	ENSG00000179933.6	transcript	ENST00000319074.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
C14orf28_chr14_44892275_44912257	44895558	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA19240.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0042 a0001c0001t0009g0041 a0001c0001t0009g0042	2	338	0.0059	-11	c.-20 others(22): Show c.-2011_-2001delAAAAAAAAAAA		C14orf28	ENSG00000179476.8	transcript	ENST00000325192.8	protein_coding					1716		chr14	TogoVar
C14orf39_chr14_60430956_60491063	60434870	TTATTATA others(4): Show TTATTATAGTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0009 a0004c0003t0002g0009	1	294	0.0034	-11	c.19 others(22): Show c.1964_*1974delTAACTATAATA		C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding					1085		chr14	TogoVar
C14orf93_chr14_22980894_23015143	23003885	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG04228.hp1 HG00738.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	2	344	0.0058	-11	c.-37 others(30): Show c.-379-4494_-379-4484delTATATATATAT		C14orf93	ENSG00000100802.15	transcript	ENST00000299088.11	protein_coding	1/6						chr14	TogoVar
C14orf93_chr14_22980894_23015143	23003887	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0120	1	344	0.0029	-11	c.-37 others(30): Show c.-379-4496_-379-4486delTATATATATAT		C14orf93	ENSG00000100802.15	transcript	ENST00000299088.11	protein_coding	1/6						chr14	TogoVar
C14orf93_chr14_22980894_23015143	23003890	ATATATAT others(4): Show ATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	344	0.0029	-11	c.-37 others(30): Show c.-379-4499_-379-4489delAAATATATATA		C14orf93	ENSG00000100802.15	transcript	ENST00000299088.11	protein_coding	1/6						chr14	TogoVar
C14orf93_chr14_22980894_23015143	23003898	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	344	0.0029	-11	c.-37 others(30): Show c.-379-4507_-379-4497delAAAAAAAAAAA		C14orf93	ENSG00000100802.15	transcript	ENST00000299088.11	protein_coding	1/6						chr14	TogoVar
C15orf40_chr15_82989817_83016639	82999162	GGGTGAGG others(4): Show GGGTGAGGGAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01496.hp1 others(9): Show HG00597.hp2 HG01099.hp2 HG01496.hp1 HG01981.hp1 HG02145.hp2 HG04184.hp2 NA18945.hp2 NA18994.hp1 NA18999.hp1 NA19003.hp2 NA19030.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0032 a0001c0001t0053 a0001c0001t0068 others(8): Show a0001c0001t0032 a0001c0001t0053 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0086 a0001c0001t0115 a0001c0001t0146 a0002c0002t0111 a0003c0003t0116 a0003c0003t0117	a0001c0001t0032g0036 a0001c0001t0053g0060 a0001c0001t0068g0138 others(8): Show a0001c0001t0032g0036 a0001c0001t0053g0060 a0001c0001t0068g0138 a0001c0001t0069g0083 a0001c0001t0070g0084 a0001c0001t0086g0097 a0001c0001t0115g0132 a0001c0001t0146g0116 a0002c0002t0111g0154 a0003c0003t0116g0197 a0003c0003t0117g0190	12	406	0.0296	-11	c.64 others(22): Show c.6424_*6434delTCTCCCTCACC		C15orf40	ENSG00000169609.14	transcript	ENST00000304177.10	protein_coding	4/4				6424		chr15	TogoVar
C15orf40_chr15_82989817_83016639	82999168	GGGAGAGG others(4): Show GGGAGAGGGGGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 NA19012.hp2 HG02055.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0085 a0001c0001t0067 a0001c0001t0085	a0001c0001t0067g0137 a0001c0001t0085g0129 a0001c0001t0067g0137 a0001c0001t0085g0129	2	406	0.0049	-11	c.64 others(22): Show c.6418_*6428delTCCCCCTCTCC		C15orf40	ENSG00000169609.14	transcript	ENST00000304177.10	protein_coding	4/4				6418		chr15	TogoVar
C16orf46_chr16_81055980_81082238	81065817	ATTTTGTT others(4): Show ATTTTGTTTTGT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	406	0.0025	-11	c.-39 others(26): Show c.-39+365_-39+375delACAAAACAAAA		C16orf46	ENSG00000166455.14	transcript	ENST00000299578.10	protein_coding	2/3						chr16	TogoVar
C16orf74_chr16_85702517_85756096	85704293	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02109.hp1 HG02257.hp2 others(1): Show HG01255.hp1 HG02109.hp1 HG02257.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0163 a0002c0002t0001g0392 others(1): Show a0002c0002t0001g0152 a0002c0002t0001g0163 a0002c0002t0001g0392 a0002c0002t0001g0394	4	410	0.0098	-11	c.37 others(22): Show c.3704_*3714delAAAAAAAAAAA		C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding					3223		chr16	TogoVar
C16orf74_chr16_85702517_85756096	85745139	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0391 a0001c0001t0001g0391	1	410	0.0024	-11	c.-19 others(28): Show c.-19+5776_-19+5786delTTTTTTTTTTT		C16orf74	ENSG00000154102.11	transcript	ENST00000284245.9	protein_coding	1/3						chr16	TogoVar
C16orf90_chr16_3488484_3500489	3488537	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA19068.hp2 NA18939.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	446	0.0045	-11	c.52 others(22): Show c.5291_*5301delAAAAAAAAAAA		C16orf90	ENSG00000215131.11	transcript	ENST00000437192.8	protein_coding					4946		chr16	TogoVar
C16orf90_chr16_3488484_3500489	3489112	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02647.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	446	0.0045	-11	c.47 others(22): Show c.4716_*4726delAAAAAAAAAAA		C16orf90	ENSG00000215131.11	transcript	ENST00000437192.8	protein_coding					4371		chr16	TogoVar
C16orf90_chr16_3488484_3500489	3490397	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18946.hp1 NA18955.hp1 others(1): Show NA18612.hp1 NA18946.hp1 NA18955.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	446	0.0090	-11	c.34 others(22): Show c.3431_*3441delTTTTTTTTTTT		C16orf90	ENSG00000215131.11	transcript	ENST00000437192.8	protein_coding					3086		chr16	TogoVar
C16orf95_chr16_87297814_87322392	87309372	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(68): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02602.hp1 HG03486.hp1 HG03654.hp1 HG03710.hp1 HG06807.hp1 NA18939.hp1 NA18944.hp1 NA18951.hp2 NA18955.hp1 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19089.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0009 a0001c0002 a0002c0001 a0004c0009	a0001c0002t0001 a0001c0002t0010 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0002t0010 a0002c0001t0001 a0004c0009t0001	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0009 others(23): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0010g0215 a0002c0001t0001g0209 a0004c0009t0001g0119	71	458	0.1550	-11	c.514 others(26): Show c.514+914_514+924delAAAAAAAAAAA		C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	5/6						chr16	TogoVar
C16orf96_chr16_4551340_4605758	4592333	TCCTGTGA others(4): Show TCCTGTGACCGG	T T	frameshift_variant frameshift_variant	HIGH	NA18906.hp1 NA18906.hp1	a0031 a0031	a0031c0042 a0031c0042	a0031c0042t0004 a0031c0042t0004	a0031c0042t0004g0224 a0031c0042t0004g0224	1	278	0.0036	-11	c.274 others(20): Show c.2747_2757delACCGGCCTGTG	p.Asp others(5): Show p.Asp916fs	C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	11/16	2897/4017	2747/3426	916/1141		INFO_REALIGN_3_PRIME	chr16	TogoVar
C16orf96_chr16_4551340_4605758	4595624	ATAAGGAG others(4): Show ATAAGGAGCAGT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	278	0.0036	-11	c.312 others(28): Show c.3127+822_3127+832delTAAGGAGCAGT		C16orf96	ENSG00000205832.8	transcript	ENST00000444310.5	protein_coding	14/15						chr16	TogoVar
C17orf100_chr17_6646762_6658476	6649206	GTTTTTTT others(4): Show GTTTTTTTTGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp2 NA19005.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0002g0000 a0001c0001t0003g0000	2	434	0.0046	-11	c.-27 others(22): Show c.-2707_-2697delTTTTTTTTGTT		C17orf100	ENSG00000256806.6	transcript	ENST00000542475.3	protein_coding					2555		chr17	TogoVar
C17orf58_chr17_67986099_68001469	68000844	AATTATAT others(4): Show AATTATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0183 a0003c0003t0001g0183	1	412	0.0024	-11	c.-46 others(22): Show c.-4657_-4647delATATATATAAT		C17orf58	ENSG00000186665.10	transcript	ENST00000580729.3	protein_coding					4376		chr17	TogoVar
C17orf98_chr17_38830086_38846438	38836577	CTTTCTTT others(4): Show CTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(73): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG01346.hp1 HG01934.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02738.hp1 HG03927.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18975.hp1 NA18976.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19076.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131	76	431	0.1763	-11	c.307 others(26): Show c.307+553_307+563delAAAGAAAGAAA		C17orf98	ENSG00000275489.2	transcript	ENST00000614158.2	protein_coding	2/2						chr17	TogoVar

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Search Results (Total: 10000 hits)