JoGo: Joint Open Genome and Omics Platform

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
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(23): Show GTGTGTGTGTTGCGCTGCGCATGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	73	0.0137	30	c.-39 others(41): Show c.-3992_-3991insTGTGCGCGCATGCGCAGCGCAACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812309	G G	GTACATAT others(23): Show GTACATATATGTGTGTATATATGTGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	272	0.0037	30	c.20 others(41): Show c.2001_*2002insTACATATATGTGTGTATATATGTGTGTATA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1899		chrX	TogoVar
CYB561D1_chr1_109489094_109505435	109503474	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	370	0.0027	30	c.72 others(41): Show c.7215_*7216insTATATATATATATATATATATATATATATA	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3040		chr1	TogoVar
CYB561D1_chr1_109489094_109505435	109503476	T T	TCATATAT others(23): Show TCATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 NA19070.hp2 HG02965.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0003 a0001c0001t0012g0001 a0001c0001t0002g0003 a0001c0001t0012g0001	2	370	0.0054	30	c.72 others(41): Show c.7217_*7218insCATATATATATATATATATATATATATATA	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3042		chr1	TogoVar
CYB561D1_chr1_109489094_109505435	109503502	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03453.hp1 HG02630.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0016 a0001c0001t0005g0002 a0001c0001t0005g0016	2	370	0.0054	30	c.72 others(41): Show c.7243_*7244insTATATATATATATATATATATATATATATG	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3068		chr1	TogoVar
CYB5A_chr18_74245846_74296963	74281743	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	396	0.0025	30	c.129 others(49): Show c.129+10003_129+10004insCACACACACACACACACACACACACA CACA	CYB5A	ENSG00000166347.19	transcript	ENST00000340533.9	protein_coding	1/4			chr18	TogoVar
CYFIP2_chr5_157261123_157400594	157286552	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01943.hp1 HG01109.hp1 HG01943.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0016 a0001c0005t0001 a0001c0005t0016	a0001c0005t0001g0315 a0001c0005t0016g0099 a0001c0005t0001g0315 a0001c0005t0016g0099	2	326	0.0061	30	c.118 others(45): Show c.118-440_118-439insATATATATATATATATATATATATATATAT	CYFIP2	ENSG00000055163.21	transcript	ENST00000620254.5	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYFIP2_chr5_157261123_157400594	157308995	G G	GGAGGATT others(23): Show GGAGGATTCAGTGGGGTTACATAGATGACTC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	326	0.0031	30	c.901 others(45): Show c.901-747_901-718dupGAGGATTCAGTGGGGTTACATAGATGACTC	CYFIP2	ENSG00000055163.21	transcript	ENST00000620254.5	protein_coding	9/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYLC1_chrX_83856146_83891698	83877920	A A	ATATATAT others(23): Show ATATATATATAAATATATATATATATATTTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	208	0.0048	30	c.192 others(49): Show c.1923+3295_1923+3296insTATAAATATATATATATATATTTGTA TATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYLC1_chrX_83856146_83891698	83878372	T T	TATATATA others(23): Show TATATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03491.hp1 HG03492.hp1 others(1): Show HG01168.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0083 a0001c0001t0001g0003 a0001c0001t0001g0083	4	208	0.0192	30	c.192 others(49): Show c.1923+3748_1923+3749insAATATATATATAAATATATATAAATA TATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP19A1_chr15_51203057_51343596	51223593	T T	TCTCTCAC others(23): Show TCTCTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	306	0.0033	30	c.452 others(47): Show c.452-1069_452-1068insTGTGTGTGTGTGTGTGTGTGTGTGTGAG AG	CYP19A1	ENSG00000137869.16	transcript	ENST00000396402.6	protein_coding	4/9			chr15	TogoVar
CYP20A1_chr2_203234018_203311026	203251793	G G	GTATATAT others(23): Show GTATATATATATATATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0071	1	334	0.0030	30	c.290 others(45): Show c.290-153_290-152insGTGTATATATATATATATATATATATATAT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP2A13_chr19_41083451_41101195	41084332	A A	AAAGAAAA others(23): Show AAAGAAAAGAAAGAAAGAAAGAAGAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	422	0.0024	30	c.-41 others(41): Show c.-4140_-4139insAAGAAAAGAAAGAAAGAAAGAAGAAGAAAG	CYP2A13	ENSG00000197838.5	transcript	ENST00000330436.4	protein_coding		4118		chr19	TogoVar
CYP2A7_chr19_40870439_40887231	40880798	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0192 a0003c0002t0004g0192	1	398	0.0025	30	c.344 others(45): Show c.344-200_344-171dupTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP2C18_chr10_94678729_94741190	94712008	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18978.hp2 HG03688.hp1 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0108 a0002c0002t0003g0121 a0002c0002t0003g0108 a0002c0002t0003g0121	2	378	0.0053	30	c.819 others(47): Show c.819+5068_819+5069insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CYP2C18	ENSG00000108242.13	transcript	ENST00000285979.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934590	A A	ATATATAT others(23): Show ATATATATATATATGTGTATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA18986.hp1 HG03942.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0101 a0001c0001t0003g0002 a0001c0001t0003g0101	2	374	0.0054	30	c.-40 others(41): Show c.-4093_-4092insTATATATATATATGTGTATATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4067		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATAT others(23): Show ATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 NA18939.hp2 NA18944.hp2 others(2): Show HG03017.hp2 NA18939.hp2 NA18944.hp2 NA18949.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0107 a0001c0001t0003g0116 others(2): Show a0001c0001t0003g0075 a0001c0001t0003g0107 a0001c0001t0003g0116 a0001c0001t0003g0128 a0001c0001t0003g0131	5	374	0.0134	30	c.-40 others(41): Show c.-4027_-4026insTATATATATACGTGTGTGTATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTAT others(23): Show CTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	374	0.0027	30	c.335 others(45): Show c.335-623_335-622insCTCTATATATATATATATATATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	374	0.0027	30	c.335 others(45): Show c.335-623_335-622insCTCTCTCTCTATATATATATATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	374	0.0027	30	c.335 others(45): Show c.335-623_335-622insCTCTCTCTCTCTATATATATATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	374	0.0027	30	c.335 others(45): Show c.335-623_335-622insCTCTCTCTCTCTCTATATATATATATATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02135.hp1 HG03041.hp1 others(10): Show HG01074.hp2 HG02135.hp1 HG03041.hp1 HG03195.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 NA18940.hp2 NA18950.hp1 NA18959.hp1 NA18974.hp1 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0004t0002	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 others(7): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0008 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0010g0148 a0001c0001t0014g0073 a0001c0001t0016g0008 a0001c0004t0002g0008	13	382	0.0340	30	c.491 others(45): Show c.491-119_491-118insATATATATATATATATATATATATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4B1_chr1_46794046_46824413	46800215	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0007 a0012c0012t0007	a0012c0012t0007g0136 a0012c0012t0007g0136	1	400	0.0025	30	c.180 others(45): Show c.180+955_180+956insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4B1_chr1_46794046_46824413	46816581	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01891.hp1 NA19006.hp1 others(2): Show HG01358.hp1 HG01891.hp1 NA19006.hp1 NA19067.hp1 NA20905.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0024 a0002c0002 a0011c0024	a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0011c0024t0002	a0002c0002t0002g0066 a0002c0002t0002g0098 a0002c0002t0004g0108 others(2): Show a0002c0002t0002g0066 a0002c0002t0002g0098 a0002c0002t0004g0108 a0002c0002t0008g0088 a0011c0024t0002g0102	5	400	0.0125	30	c.107 others(47): Show c.1074-443_1074-442insACACACACACACACACACACACACACAC AC	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATAA others(23): Show AATAATAATAATAATAATCATCATCATCATC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0199 a0003c0003t0002g0199	1	410	0.0024	30	c.111 others(49): Show c.1115+3949_1115+3950insATAATAATAATAATCATCATCATCAT CATA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATAA others(23): Show AATAATAATAATAATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01069.hp2 others(37): Show HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01109.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG01975.hp2 HG01981.hp1 HG02109.hp2 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18993.hp2 NA19080.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0003 a0001c0008 a0003c0003	a0001c0008t0002 a0003c0003t0002 a0003c0003t0005 a0001c0008t0002 a0003c0003t0002 a0003c0003t0005	a0001c0008t0002g0083 a0001c0008t0002g0111 a0003c0003t0002g0011 others(24): Show a0001c0008t0002g0083 a0001c0008t0002g0111 a0003c0003t0002g0011 a0003c0003t0002g0016 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0048 a0003c0003t0002g0130 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0175 a0003c0003t0002g0176 a0003c0003t0002g0178 a0003c0003t0002g0181 a0003c0003t0002g0184 a0003c0003t0002g0189 a0003c0003t0002g0191 a0003c0003t0002g0200 a0003c0003t0002g0201 a0003c0003t0005g0047 a0003c0003t0005g0192 a0003c0003t0005g0193	40	410	0.0976	30	c.111 others(49): Show c.1115+3949_1115+3950insATAATAATAATCATCATCATCATCAT CATA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATAA others(23): Show AATAATAATAATCATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02717.hp2 HG02738.hp1 others(4): Show HG00639.hp1 HG02717.hp2 HG02738.hp1 HG03041.hp2 HG03654.hp2 NA18522.hp1 NA18999.hp1	a0001 a0003 a0001 a0003	a0001c0008 a0003c0003 a0001c0008 a0003c0003	a0001c0008t0002 a0003c0003t0002 a0003c0003t0004 a0001c0008t0002 a0003c0003t0002 a0003c0003t0004	a0001c0008t0002g0086 a0003c0003t0002g0044 a0003c0003t0002g0174 others(3): Show a0001c0008t0002g0086 a0003c0003t0002g0044 a0003c0003t0002g0174 a0003c0003t0002g0187 a0003c0003t0002g0194 a0003c0003t0004g0177	7	410	0.0171	30	c.111 others(49): Show c.1115+3949_1115+3950insATAATAATCATCATCATCATCATCAT CATA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATAA others(23): Show AATAATAATCATCATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03139.hp1 HG02559.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0188 a0003c0003t0002g0195 a0003c0003t0002g0188 a0003c0003t0002g0195	2	410	0.0049	30	c.111 others(49): Show c.1115+3949_1115+3950insATAATCATCATCATCATCATCATCAT CATA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATCA others(23): Show AATAATCATCATCATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0002 a0010c0024t0002	a0010c0024t0002g0179 a0010c0024t0002g0179	1	410	0.0024	30	c.111 others(49): Show c.1115+3949_1115+3950insATCATCATCATCATCATCATCATCAT CATA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F22_chr19_15503525_15557317	15547018	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0004 a0009c0015t0004	a0009c0015t0004g0221 a0009c0015t0004g0221	1	384	0.0026	30	c.113 others(49): Show c.1137-1068_1137-1067insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650793	T T	TCCTTTCT others(23): Show TCCTTTCTTCTTTCTTTCTTTCTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0163 a0001c0001t0012g0163	1	424	0.0024	30	c.918 others(45): Show c.918+610_918+611insCCTTTCTTCTTTCTTTCTTTCTCTCTCTTC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650793	T T	TTCTTTCT others(23): Show TTCTTTCTTCTTTCTTTCTTTCTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0161 a0001c0001t0012g0160 a0001c0001t0012g0161	2	424	0.0047	30	c.918 others(45): Show c.918+617_918+618insTCTTTCTTTCTTTCTCTCTCTTCTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15667497	A A	ATATATCT others(23): Show ATATATCTATATCTATATCTATATCTATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG06807.hp2 NA18955.hp2 others(2): Show HG04199.hp2 HG06807.hp2 NA18955.hp2 NA18983.hp2 NA18990.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0028 a0002c0003t0003 a0002c0003t0028	a0002c0003t0003g0098 a0002c0003t0003g0119 a0002c0003t0003g0129 others(2): Show a0002c0003t0003g0098 a0002c0003t0003g0119 a0002c0003t0003g0129 a0002c0003t0003g0137 a0002c0003t0028g0121	5	424	0.0118	30	c.81 others(41): Show c.8112_*8113insTATATCTATATCTATATCTATATCTATATC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding		4673		chr19	TogoVar
CYP4V2_chr4_186186567_186218463	186204334	G G	GAGGTGGC others(23): Show GAGGTGGCGGTGGAGACGTTTCGCTGGCGTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0057 a0002c0001t0057	a0002c0001t0057g0240 a0002c0001t0057g0240	1	452	0.0022	30	c.988 others(45): Show c.988-863_988-862insTGGCGGTGGAGACGTTTCGCTGGCGTAAGG	CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4V2_chr4_186186567_186218463	186204366	G G	GAGGTGGC others(23): Show GAGGTGGCGGTGGAGACGTTTCGCTGGCGTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02886.hp2 others(4): Show HG02258.hp1 HG02615.hp1 HG02886.hp2 HG03041.hp1 NA18906.hp2 NA20129.hp1 NA21309.hp2	a0004 a0004	a0004c0003 a0004c0011 a0004c0003 a0004c0011	a0004c0003t0061 a0004c0003t0062 a0004c0011t0025 a0004c0003t0061 a0004c0003t0062 a0004c0011t0025	a0004c0003t0061g0127 a0004c0003t0062g0088 a0004c0011t0025g0016 a0004c0003t0061g0127 a0004c0003t0062g0088 a0004c0011t0025g0016	7	452	0.0155	30	c.988 others(45): Show c.988-831_988-830insTGGCGGTGGAGACGTTTCGCTGGCGTAAGG	CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4V2_chr4_186186567_186218463	186204418	T T	TCGCTGGC others(23): Show TCGCTGGCGTAAGGTGGCGGTGGAGACGTTA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG01069.hp2 others(31): Show HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01167.hp1 HG01433.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02071.hp2 HG02257.hp1 HG02280.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 NA18522.hp1 NA19030.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0012 a0002c0001 a0002c0022 others(6): Show a0001c0012 a0002c0001 a0002c0022 a0003c0005 a0003c0007 a0004c0003 a0004c0026 a0005c0008 a0007c0013	a0001c0012t0020 a0001c0012t0040 a0001c0012t0102 others(14): Show a0001c0012t0020 a0001c0012t0040 a0001c0012t0102 a0002c0001t0001 a0002c0022t0098 a0003c0005t0037 a0003c0005t0071 a0003c0005t0079 a0003c0007t0022 a0003c0007t0031 a0003c0007t0074 a0003c0007t0075 a0004c0003t0007 a0004c0026t0073 a0005c0008t0020 a0007c0013t0032 a0007c0013t0085	a0001c0012t0020g0034 a0001c0012t0040g0072 a0001c0012t0102g0081 others(21): Show a0001c0012t0020g0034 a0001c0012t0040g0072 a0001c0012t0102g0081 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0022t0098g0084 a0003c0005t0037g0061 a0003c0005t0071g0052 a0003c0005t0079g0052 a0003c0007t0022g0024 a0003c0007t0022g0034 a0003c0007t0022g0060 a0003c0007t0031g0024 a0003c0007t0031g0034 a0003c0007t0074g0128 a0003c0007t0075g0167 a0004c0003t0007g0043 a0004c0026t0073g0136 a0005c0008t0020g0062 a0005c0008t0020g0063 a0005c0008t0020g0175 a0005c0008t0020g0176 a0007c0013t0032g0025 a0007c0013t0085g0025	34	452	0.0752	30	c.988 others(45): Show c.988-770_988-769insGTGGCGGTGGAGACGTTACGCTGGCGTAAG	CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4X1_chr1_47018669_47055751	47036368	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18984.hp2 NA18998.hp2 others(1): Show HG03225.hp2 NA18984.hp2 NA18998.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0038 a0001c0001t0001g0130 a0001c0002t0004g0096 a0001c0001t0001g0038 a0001c0001t0001g0130 a0001c0002t0004g0096	4	350	0.0114	30	c.775 others(45): Show c.775+198_775+199insATATATATATATATATATATATATATATAT	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4X1_chr1_47018669_47055751	47036370	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00609.hp1 others(21): Show HG00280.hp2 HG00438.hp2 HG00609.hp1 HG00738.hp2 HG01167.hp2 HG01952.hp2 HG02630.hp1 HG03490.hp1 NA18522.hp1 NA18960.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18986.hp1 NA18995.hp2 NA19007.hp1 NA19064.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0032 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0169	24	350	0.0686	30	c.775 others(45): Show c.775+215_775+216insTATATATATATATATATATATATATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYRIA_chr2_16544459_16670834	16610897	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18994.hp2 HG02976.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0249 a0001c0001t0012g0099 a0001c0001t0001g0249 a0001c0001t0012g0099	2	290	0.0069	30	c.-11 others(49): Show c.-11+12937_-11+12966dupATATATATATATATATATATATATAT ATAT	CYRIA	ENSG00000197872.11	transcript	ENST00000381323.7	protein_coding	2/11			chr2	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01256.hp2 others(8): Show HG00140.hp2 HG00735.hp1 HG01256.hp2 HG01884.hp1 HG01975.hp2 HG02486.hp1 HG03195.hp1 HG03225.hp1 HG03491.hp1 NA18522.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0028 a0001c0002t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0165 others(8): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0004g0009 a0001c0001t0005g0018 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0028g0285 a0001c0002t0001g0135	11	288	0.0382	30	c.-13 others(51): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01081.hp1 others(3): Show HG00558.hp2 HG00741.hp1 HG01081.hp1 HG03017.hp1 NA18956.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0169 a0001c0001t0002g0098 a0001c0001t0002g0133 others(3): Show a0001c0001t0001g0169 a0001c0001t0002g0098 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0156 a0001c0001t0015g0005	6	288	0.0208	30	c.-13 others(51): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATAAA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYSTM1_chr5_140170188_140248789	140212983	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	324	0.0031	30	c.187 others(49): Show c.187+18358_187+18359insATATATATATATATATATATATATAT ATAT	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYSTM1_chr5_140170188_140248789	140212983	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	324	0.0031	30	c.187 others(49): Show c.187+18332_187+18333insGTATATATATATATATATATATATAT ATAT	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYSTM1_chr5_140170188_140248789	140226586	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	324	0.0031	30	c.188 others(49): Show c.188-16693_188-16692insTATATATATATATATATATATATATA TATA	CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYTH2_chr19_48464369_48487314	48471166	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02897.hp2 HG03486.hp2 others(2): Show HG01884.hp1 HG02897.hp2 HG03486.hp2 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0020 a0001c0001t0008g0038 a0001c0001t0008g0039 others(1): Show a0001c0001t0008g0020 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0011g0040	5	366	0.0137	30	c.234 others(45): Show c.234+511_234+512insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CYTH2	ENSG00000105443.17	transcript	ENST00000452733.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYYR1_chr21_26461216_26578286	26576269	A A	AAAAAAAA others(23): Show AAAAAAAAATTGTTTGTTCTCAACAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0115 a0001c0002t0021g0115	1	316	0.0032	30	c.-33 others(41): Show c.-3330_-3329insCTTTTTTGTTGAGAACAAACAATTTTTTTT	CYYR1	ENSG00000166265.13	transcript	ENST00000652641.2	protein_coding		2984		chr21	TogoVar
DAAM1_chr14_59183667_59376403	59289767	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03688.hp2 HG03834.hp2 others(2): Show HG01934.hp1 HG03688.hp2 HG03834.hp2 NA19084.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0034 a0001c0003t0001 a0001c0001t0002 a0001c0001t0034 a0001c0003t0001	a0001c0001t0002g0227 a0001c0001t0034g0230 a0001c0001t0034g0258 others(2): Show a0001c0001t0002g0227 a0001c0001t0034g0230 a0001c0001t0034g0258 a0001c0003t0001g0247 a0001c0003t0001g0251	5	298	0.0168	30	c.184 others(47): Show c.184-1433_184-1432insTATATATATATATATATATATATATATA TA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAB1_chr1_56989778_57429060	57060125	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	138	0.0073	30	c.723 others(47): Show c.723+2729_723+2758dupTAAAATAAAATAAAATAAAATAAAATAA AA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	9/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57367043	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	138	0.0073	30	c.-13 others(51): Show c.-137+56857_-137+56886dupATTTTATTTTATTTTATTTTATTT TATTTT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14			chr1	TogoVar
DAB2IP_chr9_121646634_121790530	121653156	C C	CAGTACTA others(23): Show CAGTACTAAGCCTTTAGTACTCCTTGGAGGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03831.hp1 HG01123.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	224	0.0089	30	c.124 others(47): Show c.124+1356_124+1385dupGCCTTTAGTACTCCTTGGAGGGAGTACT AA	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr9	TogoVar

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Search Results (Total: 10000 hits)