Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 NA18943.hp2 NA18970.hp1 others(1): Show HG01975.hp2 NA18943.hp2 NA18970.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0005g0034 a0001c0001t0007g0005 a0001c0001t0001g0001 a0001c0001t0005g0034 a0001c0001t0007g0005	4	372	0.0108	35	c.-20 others(46): Show c.-2089_-2088insATACATATATATATATATATATATATATTTTTTT T	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA19088.hp1 NA18987.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0046 a0001c0001t0005 a0001c0001t0046	a0001c0001t0005g0034 a0001c0001t0046g0078 a0001c0001t0005g0034 a0001c0001t0046g0078	2	372	0.0054	35	c.-20 others(46): Show c.-2089_-2088insATACATATATATATATATATATATATATATTTTT T	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	372	0.0027	35	c.-20 others(46): Show c.-2089_-2088insACATATATATATATATATATATATATATATATTT T	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02132.hp1 NA18943.hp1 HG00621.hp1 HG02132.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0007g0005 a0001c0001t0001g0001 a0001c0001t0007g0005	3	372	0.0081	35	c.-20 others(46): Show c.-2089_-2088insATACATATATATATATATATATATATATATATTT T	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	372	0.0027	35	c.-20 others(46): Show c.-2089_-2088insACATATATATATATATATATATATATATATATAT T	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	372	0.0027	35	c.-20 others(46): Show c.-2089_-2088insATACATATATATATATATATATATATATATATAT T	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	372	0.0027	35	c.-20 others(46): Show c.-2089_-2088insACATATATATATATATATATATATATATATATAT A	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TBC1D12_chr10_94397541_94541332	94531862	A A	ATGTTATT others(28): Show ATGTTATTTTATTTTATATGTTATGTTATGTTATGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19088.hp2 HG03540.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0267 a0001c0002t0009g0245 a0001c0002t0002g0267 a0001c0002t0009g0245	2	346	0.0058	35	c.225 others(52): Show c.2259+403_2259+404insGTTATTTTATTTTATATGTTATGTTATG TTATGTT	TBC1D12	ENSG00000108239.9	transcript	ENST00000225235.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
TBC1D12_chr10_94397541_94541332	94531862	A A	ATGTTATT others(28): Show ATGTTATTTTATTTTATGTTATTTTATTTTATATGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18990.hp2 HG02056.hp1 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0232 a0001c0002t0002g0233	2	346	0.0058	35	c.225 others(52): Show c.2259+403_2259+404insGTTATTTTATTTTATGTTATTTTATTTT ATATGTT	TBC1D12	ENSG00000108239.9	transcript	ENST00000225235.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
TBC1D14_chr4_6904826_7038114	6933237	A A	ACCTCCCC others(28): Show ACCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp2 NA20129.hp2 HG03195.hp1 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0275 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0275	3	304	0.0099	35	c.722 others(52): Show c.722+9157_722+9158insCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCC	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D16_chr17_79927343_80040872	79930040	T T	TCTCCCCT others(28): Show TCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG04184.hp2 NA19002.hp1 HG01361.hp2 HG04184.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0033 a0001c0001 a0001c0010 a0002c0033	a0001c0001t0066 a0001c0010t0035 a0002c0033t0010 a0001c0001t0066 a0001c0010t0035 a0002c0033t0010	a0001c0001t0066g0066 a0001c0010t0035g0176 a0002c0033t0010g0071 a0001c0001t0066g0066 a0001c0010t0035g0176 a0002c0033t0010g0071	3	334	0.0090	35	c.10 others(48): Show c.10818_*10819insGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGG GAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2302		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992812	A A	AATCCCCC others(28): Show AATCCCCCGCCCCCCCCACTCCCCCCAATCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0016 a0001c0005t0006g0016	1	280	0.0036	35	c.53 others(46): Show c.5347_*5348insGCGGGGGATTGGGGGGAGTGGGGGGGGCGGGGGA T	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2172		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992812	A A	AATCCCCC others(28): Show AATCCCCCGCCCCCCCCCACTCCCCCCAATCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03516.hp2 HG02723.hp1 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0017 a0001c0005t0006g0018 a0001c0005t0006g0017 a0001c0005t0006g0018	2	280	0.0071	35	c.53 others(46): Show c.5347_*5348insCGGGGGATTGGGGGGAGTGGGGGGGGGCGGGGGA T	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2172		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992862	C C	CCCCTCCC others(28): Show CCCCTCCCCCCCACTCCTCCCCCACTCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	280	0.0036	35	c.52 others(46): Show c.5297_*5298insAGTGGGGGGGAGTGGGGGAGGAGTGGGGGGGAGG G	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2122		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77993129	C C	CCCCTACG others(28): Show CCCCTACGCCCTACGCCCTACGCCCTACGCCCTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02109.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0026 a0001c0002t0019g0043 a0001c0002t0019g0026 a0001c0002t0019g0043	2	280	0.0071	35	c.50 others(46): Show c.5030_*5031insCGTAGGGCGTAGGGCGTAGGGCGTAGGGCGTAGG G	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		1855		chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121192051	T T	TCTTTATA others(28): Show TCTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18948.hp2 NA18971.hp2 others(3): Show HG02004.hp2 NA18948.hp2 NA18971.hp2 NA19067.hp1 NA19077.hp2 NA19085.hp1	a0003 a0003	a0003c0004 a0003c0012 a0003c0004 a0003c0012	a0003c0004t0003 a0003c0012t0003 a0003c0012t0011 a0003c0004t0003 a0003c0012t0003 a0003c0012t0011	a0003c0004t0003g0021 a0003c0004t0003g0022 a0003c0004t0003g0041 others(3): Show a0003c0004t0003g0021 a0003c0004t0003g0022 a0003c0004t0003g0041 a0003c0004t0003g0042 a0003c0012t0003g0005 a0003c0012t0011g0004	6	292	0.0206	35	c.257 others(56): Show c.2570+13023_2570+13024insTATATATATATATATATATATATA TATATATAAAG	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02074.hp1 HG02148.hp1 others(4): Show HG00642.hp1 HG02074.hp1 HG02148.hp1 HG02615.hp1 HG04204.hp2 NA18952.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0018	a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0002g0147 others(4): Show a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0002g0147 a0001c0001t0003g0083 a0001c0001t0003g0100 a0001c0001t0015g0105 a0001c0002t0018g0265	7	440	0.0159	35	c.520 others(52): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8B_chrX_106797673_106881150	106872228	C C	CGAGCTGA others(28): Show CGAGCTGAGATTTAACCATTGCACTCCAACCTGGGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0129 a0001c0002t0005g0129	1	226	0.0044	35	c.296 others(54): Show c.2968-1329_2968-1295dupAACCATTGCACTCCAACCTGGGTGAG CTGAGATTT	TBC1D8B	ENSG00000133138.20	transcript	ENST00000357242.10	protein_coding	20/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
TBCD_chr17_82747065_82950914	82872884	G G	GGTGGCCG others(28): Show GGTGGCCGACGGCTTCTGAGCCAGGCCCGGCACCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG00741.hp2 others(29): Show HG00280.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01192.hp1 HG01496.hp2 HG01516.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02602.hp2 HG02735.hp1 HG03017.hp2 HG03491.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18944.hp1 NA18945.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18999.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0002 a0002c0007 a0003c0004 others(3): Show a0001c0002 a0002c0007 a0003c0004 a0003c0018 a0003c0047 a0013c0024	a0001c0002t0002 a0002c0007t0004 a0003c0004t0004 others(6): Show a0001c0002t0002 a0002c0007t0004 a0003c0004t0004 a0003c0004t0013 a0003c0004t0032 a0003c0018t0003 a0003c0018t0024 a0003c0047t0003 a0013c0024t0004	a0001c0002t0002g0071 a0002c0007t0004g0013 a0002c0007t0004g0021 others(29): Show a0001c0002t0002g0071 a0002c0007t0004g0013 a0002c0007t0004g0021 a0002c0007t0004g0278 a0003c0004t0004g0176 a0003c0004t0004g0178 a0003c0004t0004g0179 a0003c0004t0004g0180 a0003c0004t0004g0181 a0003c0004t0004g0182 a0003c0004t0004g0185 a0003c0004t0004g0186 a0003c0004t0004g0187 a0003c0004t0004g0188 a0003c0004t0004g0190 a0003c0004t0004g0191 a0003c0004t0004g0192 a0003c0004t0004g0194 a0003c0004t0004g0196 a0003c0004t0004g0197 a0003c0004t0004g0198 a0003c0004t0004g0200 a0003c0004t0004g0201 a0003c0004t0013g0175 a0003c0004t0013g0184 a0003c0004t0013g0193 a0003c0004t0013g0199 a0003c0004t0032g0183 a0003c0018t0003g0189 a0003c0018t0024g0195 a0003c0047t0003g0177 a0013c0024t0004g0127	32	318	0.1006	35	c.147 others(54): Show c.1475+2603_1475+2637dupGCACCTCGTGGCCGACGGCTTCTGAG CCAGGCCCG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	14/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82872884	G G	GGTGGCCG others(28): Show GGTGGCCGACGGCTTCTGAGCCAGGCCCGGCACCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0036 a0002c0043t0036	a0002c0043t0036g0001 a0002c0043t0036g0001	1	318	0.0031	35	c.147 others(54): Show c.1475+2538_1475+2539insTGTGGCCGACGGCTTCTGAGCCAGGC CCGGCACCT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	14/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82872919	C C	CGTGGCCG others(28): Show CGTGGCCGACGGCTTCTGAGCCAGGCCCATCGCCTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 HG03225.hp2 others(1): Show HG02647.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp1	a0002 a0002	a0002c0011 a0002c0012 a0002c0011 a0002c0012	a0002c0011t0012 a0002c0012t0008 a0002c0011t0012 a0002c0012t0008	a0002c0011t0012g0163 a0002c0011t0012g0165 a0002c0012t0008g0170 others(1): Show a0002c0011t0012g0163 a0002c0011t0012g0165 a0002c0012t0008g0170 a0002c0012t0008g0171	4	318	0.0126	35	c.147 others(54): Show c.1475+2566_1475+2567insATCGCCTGGTGGCCGACGGCTTCTGA GCCAGGCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	14/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82886635	T T	TCTCCCCT others(28): Show TCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG04115.hp2 NA18963.hp2 HG02630.hp2 HG04115.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0031 a0001c0001 a0001c0002 a0001c0031	a0001c0001t0006 a0001c0002t0022 a0001c0031t0002 a0001c0001t0006 a0001c0002t0022 a0001c0031t0002	a0001c0001t0006g0011 a0001c0002t0022g0232 a0001c0031t0002g0075 a0001c0001t0006g0011 a0001c0002t0022g0232 a0001c0031t0002g0075	3	318	0.0094	35	c.153 others(54): Show c.1533+2464_1533+2498dupCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18964.hp2 NA18969.hp2 others(4): Show NA18956.hp2 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA19082.hp2 NA19085.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0009 a0001c0003 a0004c0009	a0001c0003t0005 a0004c0009t0005 a0001c0003t0005 a0004c0009t0005	a0001c0003t0005g0017 a0001c0003t0005g0055 a0004c0009t0005g0055 a0001c0003t0005g0017 a0001c0003t0005g0055 a0004c0009t0005g0055	7	438	0.0160	35	c.664 others(48): Show c.664-90_664-89insGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGA GAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar
TBX5_chr12_114348911_114411144	114370231	C C	CAGAAAAG others(28): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	390	0.0026	35	c.756 others(52): Show c.756-3875_756-3841dupTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCT	TBX5	ENSG00000089225.20	transcript	ENST00000405440.7	protein_coding	7/8			chr12	TogoVar
TCERG1L_chr10_131087391_131316721	131174961	A A	ATGGGACC others(28): Show ATGGGACCCCACCCCTGTTACCTGAACCCACCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00642.hp1 others(27): Show HG00099.hp1 HG00280.hp2 HG00642.hp1 HG00738.hp1 HG01074.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG02055.hp2 HG02129.hp1 HG02145.hp2 HG02486.hp2 HG02615.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03669.hp1 HG04199.hp2 NA18906.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0001c0015 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0012t0001 a0001c0015t0002 a0002c0004t0002 a0003c0005t0008	a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0079 others(27): Show a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0002g0203 a0001c0001t0002g0240 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0302 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0003g0070 a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0004g0098 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0007g0198 a0001c0001t0018g0091 a0001c0002t0001g0117 a0001c0002t0001g0178 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0004g0137 a0001c0002t0004g0145 a0001c0012t0001g0119 a0001c0015t0002g0323 a0002c0004t0002g0219 a0002c0004t0002g0226 a0003c0005t0008g0195	30	324	0.0926	35	c.857 others(52): Show c.857-8077_857-8076insGAGGGGTGGGTTCAGGTAACAGGGGTGG GGTCCCA	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TCERG1L_chr10_131087391_131316721	131299496	A A	ATATATCT others(28): Show ATATATCTTTCGAAGATATATCTTTCGAAGATAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02258.hp2 others(5): Show HG01243.hp2 HG02145.hp2 HG02258.hp2 HG02622.hp1 HG02622.hp2 HG02818.hp2 HG03139.hp1 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0007 a0002c0004t0008 a0002c0004t0002 a0002c0004t0007 a0002c0004t0008	a0002c0004t0002g0217 a0002c0004t0002g0219 a0002c0004t0002g0220 others(5): Show a0002c0004t0002g0217 a0002c0004t0002g0219 a0002c0004t0002g0220 a0002c0004t0002g0226 a0002c0004t0007g0218 a0002c0004t0007g0221 a0002c0004t0008g0216 a0002c0004t0008g0222	8	324	0.0247	35	c.670 others(52): Show c.670+8680_670+8714dupCTTTATCTTCGAAAGATATATCTTCGAA AGATATA	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	3/11			chr10	TogoVar
TCF12_chr15_56913644_57294853	56984014	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01978.hp2 NA19009.hp2 HG00099.hp1 HG01978.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0002t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0102 a0001c0002t0001g0018	3	330	0.0091	35	c.148 others(54): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGAA	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57208380	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0330 a0001c0001t0032g0330	1	330	0.0030	35	c.579 others(54): Show c.579+10574_579+10575insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57264195	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	330	0.0030	35	c.174 others(52): Show c.1745+944_1745+945insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF20_chr22_42155013_42275653	42219355	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03834.hp1 HG03492.hp1 HG03834.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0178 a0003c0004t0001g0123 a0001c0001t0001g0178 a0003c0004t0001g0123	2	355	0.0056	35	c.-36 others(52): Show c.-36-4015_-36-4014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF25_chr16_89868592_89916379	89869045	A A	ACATATAT others(28): Show ACATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	300	0.0033	35	c.-46 others(46): Show c.-4623_-4622insCATATATATATATATATATATATATATATATATA T	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4546		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	300	0.0033	35	c.-46 others(46): Show c.-4615_-4614insAAAAAAAAAAAAAAAATATATATATATATATATA T	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	300	0.0033	35	c.-46 others(46): Show c.-4615_-4614insAAAAAAAAAAAATATATATATATATATATATATA T	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	300	0.0033	35	c.-46 others(46): Show c.-4615_-4614insAAAAAAAAAATATATATATATATATATATATATA T	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA18971.hp1 HG00673.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0198 a0001c0001t0001g0200	2	300	0.0067	35	c.-46 others(46): Show c.-4615_-4614insAAAAAAAATATATATATATATATATATATATATA T	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAC others(28): Show AAAAAAACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	300	0.0033	35	c.-46 others(46): Show c.-4615_-4614insAAAAAACATATATATATATATATATATATATATA T	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01361.hp1 HG01256.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0242 a0001c0001t0001g0218 a0001c0001t0001g0242	2	300	0.0067	35	c.-46 others(46): Show c.-4615_-4614insAAAAAATATATATATATATATATATATATATATA T	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	300	0.0033	35	c.-46 others(46): Show c.-4615_-4614insAAAATATATATATATATATATATATATATATATA T	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0067 a0001c0004t0002g0067	1	300	0.0033	35	c.-46 others(46): Show c.-4615_-4614insAATATATATATATATATATATATATATATATATA T	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89907458	A A	ACCTCCCA others(28): Show ACCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03669.hp2 HG03831.hp2 others(3): Show HG03239.hp2 HG03669.hp2 HG03831.hp2 NA18951.hp1 NA18979.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0001 a0001c0005t0004	a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0005t0001g0266 others(3): Show a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0005t0001g0266 a0001c0005t0001g0268 a0001c0005t0001g0269 a0001c0005t0004g0271	6	300	0.0200	35	c.179 others(52): Show c.1799+142_1799+143insAGTTCCCACCTCCCAGCTCCCACCTCCC TCCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89907633	T T	TCCTCCCT others(28): Show TCCTCCCTCCTCCCAGCTCCCTCCTCCCAGCTCCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	300	0.0033	35	c.179 others(52): Show c.1799+312_1799+313insCTCCCTCCTCCCAGCTCCCTCCTCCCAG CTCCCAC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1612634	G G	GGGTACAC others(28): Show GGGTACACGGCTGGTGTTGGTGTGGGCAGCAGTGCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02896.hp1 HG02451.hp1 HG02622.hp2 HG02896.hp1	a0004 a0010 a0004 a0010	a0004c0014 a0010c0023 a0004c0014 a0010c0023	a0004c0014t0013 a0004c0014t0079 a0010c0023t0051 a0004c0014t0013 a0004c0014t0079 a0010c0023t0051	a0004c0014t0013g0288 a0004c0014t0079g0305 a0010c0023t0051g0140 a0004c0014t0013g0288 a0004c0014t0079g0305 a0010c0023t0051g0140	3	352	0.0085	35	c.182 others(52): Show c.1823-820_1823-786dupTGCACTGCTGCCCACACCAACACCAGCC GTGTACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	18/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627783	T T	TGGGAAGG others(28): Show TGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0233 a0001c0003t0001g0233	1	352	0.0028	35	c.299 others(50): Show c.299-392_299-358dupGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627853	C C	CGGGAAGG others(28): Show CGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0032 a0001c0005t0023g0032	1	352	0.0028	35	c.299 others(50): Show c.299-428_299-427insACCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1627985	G G	GTGAGGCG others(28): Show GTGAGGCGGGAAAGGGACAGCAGAGCTCACAGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	352	0.0028	35	c.299 others(50): Show c.299-560_299-559insTCCCCTGTGAGCTCTGCTGTCCCTTTCCCG CCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628153	C C	CGGGGGTG others(28): Show CGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0282 a0001c0007t0002g0282	1	352	0.0028	35	c.299 others(50): Show c.299-728_299-727insCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628153	C C	CGGGGTGA others(28): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAACTCACAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	352	0.0028	35	c.299 others(50): Show c.299-728_299-727insCTGTGAGTTCTGCTGTCCCCTTCCCACCTC ACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628153	C C	CGGGGTGA others(28): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG00639.hp1 HG00738.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0008 a0002c0001t0029 a0001c0004t0008 a0002c0001t0029	a0001c0004t0008g0097 a0002c0001t0029g0159 a0001c0004t0008g0097 a0002c0001t0029g0159	2	352	0.0057	35	c.299 others(50): Show c.299-728_299-727insCTGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628186	C C	CAGGGGAT others(28): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0078 a0001c0002t0078	a0001c0002t0078g0189 a0001c0002t0078g0189	1	352	0.0028	35	c.299 others(50): Show c.299-761_299-760insATGAGTTCTGCTGTCCCCTTCCCGCCTCAT CCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628190	G G	GTGAGGCG others(28): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0259 a0001c0007t0002g0259	1	352	0.0028	35	c.299 others(50): Show c.299-765_299-764insTCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 4618 hits)