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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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
FADS2_chr11_61823300_61872354	61824502	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	280	0.0036	27	c.-38 others(38): Show c.-3889_-3888insAAAGAAAGAAAGAAAGAAAGAAAGAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3797		chr11	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02004.hp2 others(8): Show HG00408.hp1 HG00438.hp1 HG02004.hp2 HG02015.hp1 HG02132.hp1 HG03688.hp1 NA18522.hp1 NA18950.hp1 NA18960.hp2 NA18982.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0071 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0165 a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0001t0001g0202	11	280	0.0393	27	c.883 others(44): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FADS3_chr11_61868526_61896545	61877356	C C	CACATGTG others(20): Show CACATGTGAGCCACACTGTTGCACGCAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	418	0.0024	27	c.885 others(42): Show c.885+128_885+154dupATGCGTGCAACAGTGTGGCTCACATGT	FADS3	ENSG00000221968.9	transcript	ENST00000278829.7	protein_coding	7/11			chr11	TogoVar
FAF1_chr1_50432028_50965267	50457724	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	190	0.0053	27	c.187 others(48): Show c.1870-16202_1870-16201insTTTTTTTTTTTTTTTTTTTTTTTT TTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAHD1_chr16_1822206_1833910	1830944	A A	ACACACAC others(20): Show ACACACACACACACACACCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01099.hp2 others(1): Show HG00438.hp2 HG00642.hp2 HG01099.hp2 HG01975.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0005t0002 a0002c0003t0002 a0002c0005t0002	a0002c0003t0002g0000 a0002c0005t0002g0000 a0002c0003t0002g0000 a0002c0005t0002g0000	4	448	0.0089	27	c.30 others(38): Show c.3040_*3041insCACACACACACACACACCCCACCCACC	FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding		2035		chr16	TogoVar
FAHD1_chr16_1822206_1833910	1830944	A A	ACACACAC others(20): Show ACACACACACACACACACCCCACTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0000 a0002c0003t0002g0000	1	448	0.0022	27	c.30 others(38): Show c.3040_*3041insCACACACACACACACACCCCACTCACC	FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding		2035		chr16	TogoVar
FAM107B_chr10_14513557_14779897	14628112	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20129.hp1 HG03139.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	272	0.0074	27	c.469 others(46): Show c.469+39521_469+39522insAAAAAAAAAAAAAAAAAAAAAAAAAA A	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14737800	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0264 a0002c0002t0003g0264	1	272	0.0037	27	c.411 others(46): Show c.411+36452_411+36453insAGAGAGAGAGAGAGAGAGAGAGAGAG A	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar
FAM120A_chr9_93446685_93571112	93545780	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19002.hp1 HG02717.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0090 a0001c0003t0002g0029 a0001c0001t0003g0090 a0001c0003t0002g0029	2	318	0.0063	27	c.215 others(46): Show c.2159+2335_2159+2336insTTTTTTTTTTTTTTTTTTTTTTTTTT T	FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM120B_chr6_170301758_170412067	170407726	C C	CAGACAAA others(20): Show CAGACAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	289	0.0035	27	c.29 others(38): Show c.2975_*2976insAGACAAAAAAAAAAAAAAAAAAAAAAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding		660		chr6	TogoVar
FAM124A_chr13_51217398_51289239	51288475	T T	TCCATCTC others(20): Show TCCATCTCCTCCTCCTCCTCCATCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG03130.hp1 HG03195.hp1 others(2): Show HG02647.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0002 a0001c0001t0017 a0001c0007t0001 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0007t0001 a0001c0009t0020 a0001c0009t0033	a0001c0001t0002g0192 a0001c0001t0017g0196 a0001c0007t0001g0020 others(2): Show a0001c0001t0002g0192 a0001c0001t0017g0196 a0001c0007t0001g0020 a0001c0009t0020g0107 a0001c0009t0033g0210	5	406	0.0123	27	c.72 others(38): Show c.7219_*7220insCCATCTCCTCCTCCTCCTCCATCTCCC	FAM124A	ENSG00000150510.17	transcript	ENST00000322475.13	protein_coding		4237		chr13	TogoVar
FAM136A_chr2_70290976_70307067	70302047	G G	GCGCCCAT others(20): Show GCGCCCATATGGAATCGGCGTACGGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG03098.hp2 others(1): Show HG02818.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0009 a0002c0002t0008 a0002c0002t0009	a0002c0002t0008g0035 a0002c0002t0009g0034 a0002c0002t0008g0035 a0002c0002t0009g0034	4	440	0.0091	27	c.-37 others(34): Show c.-37_-36insGGCCCGTACGCCGATTCCATATGGGCG	FAM136A	ENSG00000035141.10	transcript	ENST00000430566.6	protein_coding	1/3	37		chr2	TogoVar
FAM13A_chr4_88720960_89062185	88913100	G G	GAGGAGGA others(20): Show GAGGAGGAAGAGGAAGAGGAAGAAGAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02486.hp2 others(6): Show HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 NA18906.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0016	a0001c0003 a0001c0005 a0002c0004 others(3): Show a0001c0003 a0001c0005 a0002c0004 a0005c0014 a0007c0028 a0016c0015	a0001c0003t0013 a0001c0003t0037 a0001c0005t0019 others(4): Show a0001c0003t0013 a0001c0003t0037 a0001c0005t0019 a0002c0004t0021 a0005c0014t0006 a0007c0028t0035 a0016c0015t0006	a0001c0003t0013g0041 a0001c0003t0037g0199 a0001c0005t0019g0204 others(6): Show a0001c0003t0013g0041 a0001c0003t0037g0199 a0001c0005t0019g0204 a0002c0004t0021g0190 a0002c0004t0021g0205 a0005c0014t0006g0187 a0005c0014t0006g0201 a0007c0028t0035g0202 a0016c0015t0006g0203	9	208	0.0433	27	c.760 others(44): Show c.760-6665_760-6639dupGTTCTTCTTCCTCTTCCTCTTCCTCCT	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	5/23			chr4	TogoVar
FAM13A_chr4_88720960_89062185	88945783	G G	GTATATAT others(20): Show GTATATATATATATAAGTATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0029 a0002c0004t0029	a0002c0004t0029g0100 a0002c0004t0029g0100	1	208	0.0048	27	c.606 others(44): Show c.606-7569_606-7543dupATATATATATACTTATATATATATATA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	4/23			chr4	TogoVar
FAM13A_chr4_88720960_89062185	89061609	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0103 a0001c0005t0009g0103	1	208	0.0048	27	c.-46 others(38): Show c.-4646_-4645insCAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding		4425		chr4	TogoVar
FAM149A_chr4_186099704_186180337	186104754	C C	CGGCGGGC others(20): Show CGGCGGGCGGCGGGCGGCGGGCGTCTGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0064 a0001c0010t0064	a0001c0010t0064g0251 a0001c0010t0064g0251	1	390	0.0026	27	c.-30 others(36): Show c.-308_-307insGCGGGCGTCTGGGGCGGGCGGCGGGCG	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/14	307	INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM163A_chr1_179738291_179821198	179795958	C C	CTATTATT others(20): Show CTATTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(22): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00738.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02698.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp2 HG03669.hp2 HG03834.hp2 HG04199.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0036 a0001c0001t0041 a0001c0001t0046 a0001c0001t0048 a0001c0001t0053 a0001c0001t0062 a0001c0001t0064 a0001c0002t0003	a0001c0001t0001g0142 a0001c0001t0002g0047 a0001c0001t0005g0167 others(20): Show a0001c0001t0001g0142 a0001c0001t0002g0047 a0001c0001t0005g0167 a0001c0001t0007g0002 a0001c0001t0007g0029 a0001c0001t0007g0108 a0001c0001t0008g0033 a0001c0001t0012g0097 a0001c0001t0018g0011 a0001c0001t0019g0048 a0001c0001t0019g0084 a0001c0001t0019g0137 a0001c0001t0023g0143 a0001c0001t0026g0203 a0001c0001t0036g0161 a0001c0001t0041g0197 a0001c0001t0046g0013 a0001c0001t0048g0208 a0001c0001t0053g0076 a0001c0001t0062g0116 a0001c0001t0064g0111 a0001c0002t0003g0191 a0001c0002t0003g0213	25	226	0.1106	27	c.-13 others(48): Show c.-135-11818_-135-11817insATTATTATTATTATTATTATTATT ATT	FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM167B_chr1_32242222_32253856	32243103	T T	TTTATTTA others(20): Show TTTATTTATTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01358.hp2 NA19065.hp2 others(1): Show HG00423.hp2 HG01358.hp2 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0002t0001g0001	4	378	0.0106	27	c.-43 others(38): Show c.-4319_-4318insTTATTTATTTATTTATTTATTTATTTA	FAM167B	ENSG00000183615.6	transcript	ENST00000373582.4	protein_coding		4118		chr1	TogoVar
FAM168A_chr11_73395487_73603112	73433076	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	180	0.0056	27	c.71- others(42): Show c.71-2333_71-2307dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	2/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73529796	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0134 a0001c0001t0041g0134	1	180	0.0056	27	c.-18 others(46): Show c.-18-61305_-18-61304insAAAAAAAAAAAAAAAAAAAAAAAAAA A	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM171A2_chr17_44348215_44368853	44368146	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA20805.hp2 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0063 a0001c0001t0003g0017 a0001c0001t0001g0063 a0001c0001t0003g0017	2	416	0.0048	27	c.-44 others(38): Show c.-4433_-4432insATATATATATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4294		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368146	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	416	0.0024	27	c.-44 others(38): Show c.-4433_-4432insAAATATATATATATATATATATATATA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4294		chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368147	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	27	c.-44 others(38): Show c.-4434_-4433insTATATATATATATATATATATATATAT	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4295		chr17	TogoVar
FAM174B_chr15_92612448_92660775	92632013	C C	CCAAATTG others(20): Show CCAAATTGGATAGGAATAGTCTTCCTCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02630.hp1 NA20752.hp1 HG00642.hp1 HG02630.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0004 a0001c0001t0011 a0003c0004t0004 a0001c0001t0004 a0001c0001t0011 a0003c0004t0004	a0001c0001t0004g0131 a0001c0001t0011g0132 a0003c0004t0004g0368 a0001c0001t0004g0131 a0001c0001t0011g0132 a0003c0004t0004g0368	3	394	0.0076	27	c.345 others(44): Show c.345-1669_345-1668insTGAGGAAGACTATTCCTATCCAATTTG	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM181B_chr11_82724940_82738864	82728870	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG02056.hp1 others(32): Show HG00423.hp2 HG00544.hp1 HG02056.hp1 HG02056.hp2 HG03942.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18957.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19086.hp2 NA19090.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0007 a0002c0002 a0002c0006 a0005c0007	a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 others(2): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 a0002c0006t0001 a0005c0007t0001	a0002c0002t0001g0000 a0002c0002t0010g0000 a0002c0002t0011g0000 others(2): Show a0002c0002t0001g0000 a0002c0002t0010g0000 a0002c0002t0011g0000 a0002c0006t0001g0000 a0005c0007t0001g0000	35	426	0.0822	27	c.35 others(38): Show c.3578_*3579insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		1069		chr11	TogoVar
FAM181B_chr11_82724940_82738864	82728871	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	1	426	0.0024	27	c.35 others(38): Show c.3577_*3578insTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		1068		chr11	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18985.hp1 NA18975.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0168 a0001c0001t0001g0169	2	286	0.0070	27	c.291 others(46): Show c.2916-3057_2916-3056insAAAAATATATATATATATATATATAT A	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01106.hp1 others(7): Show HG00140.hp2 HG00642.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp1 HG02698.hp1 HG03491.hp2 HG03492.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0009g0001	10	286	0.0350	27	c.291 others(46): Show c.2916-3057_2916-3056insAAAAAAAAATATATATATATATATAT A	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184B_chr4_17624306_17786621	17641461	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0110 a0001c0005t0014g0110	1	238	0.0042	27	c.251 others(44): Show c.2519+568_2519+594dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	13/17			chr4	TogoVar
FAM187B_chr19_35219800_35233739	35231744	T T	TTTGGGAG others(20): Show TTTGGGAGATGGAGGTTGCAGTAAGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0006 a0002c0005t0001g0006	1	450	0.0022	27	c.-30 others(38): Show c.-3065_-3064insCAGCTTACTGCAACCTCCATCTCCCAA	FAM187B	ENSG00000177558.4	transcript	ENST00000324675.4	protein_coding		3006		chr19	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19010.hp2 HG02818.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0174 a0001c0002t0009g0239 a0001c0001t0001g0174 a0001c0002t0009g0239	2	330	0.0061	27	c.502 others(44): Show c.502-7999_502-7998insATATATATATATATATATTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	330	0.0030	27	c.502 others(44): Show c.502-7999_502-7998insATATATATATATATATTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM219A_chr9_34393184_34463570	34430846	T T	TAACAACA others(20): Show TAACAACAACAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG03098.hp2 others(1): Show HG01243.hp1 HG02451.hp1 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103	4	396	0.0101	27	c.61- others(44): Show c.61-24883_61-24882insGTTGTTGTTGTTGTTGTTGTTGTTGTT	FAM219A	ENSG00000164970.15	transcript	ENST00000651358.1	protein_coding	1/5			chr9	TogoVar
FAM220A_chr7_6324411_6353967	6343773	C C	CTGCCCTA others(20): Show CTGCCCTAACCTCCTTAAAATGCCTCAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0118 a0004c0004t0002g0118	1	420	0.0024	27	c.-82 others(44): Show c.-82+4799_-82+4800insTTGAGGCATTTTAAGGAGGTTAGGGCA	FAM220A	ENSG00000178397.13	transcript	ENST00000313324.9	protein_coding	1/1			chr7	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0239 a0001c0002t0002g0239	1	276	0.0036	27	c.-40 others(46): Show c.-40-12013_-40-12012insAAATATATATATATATATATATATAT A	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp1 NA19009.hp1 others(1): Show NA18943.hp1 NA18947.hp1 NA19009.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0196 a0001c0002t0002g0215 a0001c0002t0002g0230 others(1): Show a0001c0002t0002g0196 a0001c0002t0002g0215 a0001c0002t0002g0230 a0001c0002t0006g0194	4	276	0.0145	27	c.-40 others(46): Show c.-40-12013_-40-12012insAAAAAAATATATATATATATATATAT A	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28790883	A A	AAATTTTT others(20): Show AAATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0259 a0001c0001t0004g0259	1	276	0.0036	27	c.-40 others(46): Show c.-40-24177_-40-24176insAAAAAAAAAAAAAAAAAAAAAAAAAT T	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28790884	C C	CATTTTTT others(20): Show CATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02280.hp2 NA20300.hp2 HG00738.hp1 HG02280.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0062 a0001c0001t0001g0095 a0001c0010t0001g0098 a0001c0001t0001g0062 a0001c0001t0001g0095 a0001c0010t0001g0098	3	276	0.0109	27	c.-40 others(46): Show c.-40-24178_-40-24177insAAAAAAAAAAAAAAAAAAAAAAAAAA T	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM228B_chr2_24118469_24174638	24166054	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0017 a0002c0007t0001g0017	1	290	0.0035	27	c.933 others(44): Show c.933-1572_933-1571insATATATATATATATATATATATATATA	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM236A_chrX_72933206_72943958	72943790	G G	GAGGAGGA others(20): Show GAGGAGGAGGAGCAGGAGGAGGAGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19080.hp1 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	158	0.0127	27	c.49 others(38): Show c.4957_*4958insAGGAGGAGGAGCAGGAGGAGGAGGAGC	FAM236A	ENSG00000275520.2	transcript	ENST00000611003.2	protein_coding		4833		chrX	TogoVar
FAM236B_chrX_72776865_72787660	72776950	T T	TTCCTCCT others(20): Show TTCCTCCTCCTCCTCCTCCTCCTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	110	0.0091	27	c.50 others(38): Show c.5013_*5039dupGGAGGAGGAGGAGGAGGAGGAGGAGGA	FAM236B	ENSG00000268994.3	transcript	ENST00000596535.3	protein_coding		4914		chrX	TogoVar
FAM236B_chrX_72776865_72787660	72777006	C C	CCTCCTCC others(20): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	110	0.0091	27	c.49 others(38): Show c.4983_*4984insCAGGAGGAGGAGGAGGAGGAGGAGGAG	FAM236B	ENSG00000268994.3	transcript	ENST00000596535.3	protein_coding		4858		chrX	TogoVar
FAM236B_chrX_72776865_72787660	72777021	C C	CCTCCTCC others(20): Show CCTCCTCCTCCTGCTCCTCCTCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG03704.hp1 HG00140.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	110	0.0182	27	c.49 others(38): Show c.4968_*4969insCAGGAGGAGGAGGAGCAGGAGGAGGAG	FAM236B	ENSG00000268994.3	transcript	ENST00000596535.3	protein_coding		4843		chrX	TogoVar
FAM240C_chr2_241888988_241905464	241896503	G G	GGGGTGTG others(20): Show GGGGTGTGGGTGAAGGGGTGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	37	0.0270	27	c.161 others(42): Show c.161+682_161+683insAACACCCACACCCCTTCACCCACACCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FAM241B_chr10_69625247_69638596	69627121	C C	CACCACCA others(20): Show CACCACCACTACTATTACTACTACTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03130.hp2 HG03225.hp2 others(1): Show HG01891.hp2 HG03130.hp2 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	4	462	0.0087	27	c.-32 others(38): Show c.-3296_-3295insACCACCACTACTATTACTACTACTACT	FAM241B	ENSG00000171224.9	transcript	ENST00000373279.6	protein_coding		3125		chr10	TogoVar
FAM3A_chrX_154501171_154521232	154519971	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	339	0.0030	27	c.-42 others(38): Show c.-4200_-4199insTATATATATATATATATATATATATAT	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		3740		chrX	TogoVar
FAM3D_chr3_58628946_58671774	58637878	G G	GATTATTA others(20): Show GATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0173 a0006c0010t0004g0173	1	398	0.0025	27	c.374 others(42): Show c.374-654_374-653insAATAATAATAATAATAATAATAATAAT	FAM3D	ENSG00000198643.7	transcript	ENST00000358781.7	protein_coding	7/9			chr3	TogoVar
FAM43B_chr1_20547573_20560020	20550649	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	464	0.0022	27	c.-23 others(38): Show c.-2325_-2324insAAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding		1923		chr1	TogoVar
FAM53A_chr4_1634887_1689313	1666213	C C	CACCTGCA others(20): Show CACCTGCACACCCTGTATCTAAAATAAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	350	0.0029	27	c.75+ others(42): Show c.75+2453_75+2454insTTTATTTTAGATACAGGGTGTGCAGGT	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	2/4			chr4	TogoVar
FAN1_chr15_30898915_30948108	30929739	T T	TCATATAT others(20): Show TCATATATAATATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01099.hp1 others(35): Show HG00280.hp2 HG00733.hp2 HG01099.hp1 HG01109.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03704.hp2 NA18906.hp1 NA18906.hp2 NA18964.hp1 NA18972.hp1 NA18981.hp1 NA18989.hp2 NA18999.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19077.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0005 a0005c0008 a0001c0001 a0003c0005 a0005c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0003c0005t0004 a0003c0005t0006 a0005c0008t0004	a0001c0001t0002g0012 a0001c0001t0002g0114 a0001c0001t0004g0010 others(29): Show a0001c0001t0002g0012 a0001c0001t0002g0114 a0001c0001t0004g0010 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0083 a0001c0001t0004g0086 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0005g0084 a0001c0001t0005g0090 a0001c0001t0006g0076 a0001c0001t0006g0087 a0001c0001t0017g0082 a0003c0005t0004g0011 a0003c0005t0004g0106 a0003c0005t0004g0107 a0003c0005t0004g0108 a0003c0005t0006g0109 a0005c0008t0004g0080 a0005c0008t0004g0081	38	303	0.1254	27	c.278 others(44): Show c.2787+342_2787+343insCATATATAATATATATAAAATATATAA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar

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Search Results (Total: 7463 hits)