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
TAS2R1_chr5_9622347_9635351	9633287	G G	GTATATTA others(22): Show GTATATTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	458	0.0022	29	c.-32 others(40): Show c.-3256_-3255insTATATATATATATATATATATATAATATA	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2937		chr5	TogoVar
TAS2R1_chr5_9622347_9635351	9633313	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0032 a0001c0008t0032	a0001c0008t0032g0000 a0001c0008t0032g0000	1	458	0.0022	29	c.-32 others(40): Show c.-3282_-3281insTATATATATATATATATATATATATATAT	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2963		chr5	TogoVar
TASL_chrX_30553809_30582766	30581418	A A	AAATGGAC others(22): Show AAATGGACATTATTCCTATTATTCAATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	29	c.-38 others(40): Show c.-3898_-3897insGTAATTGAATAATAGGAATAATGTCCATT	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding		3653		chrX	TogoVar
TASP1_chr20_13384394_13643932	13394318	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAGAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	290	0.0035	29	c.117 others(48): Show c.1171-3867_1171-3866insCTTTTTTTTTTTTTTCTTTTTTTTTT TTT	TASP1	ENSG00000089123.16	transcript	ENST00000337743.9	protein_coding	13/13			chr20	TogoVar
TASP1_chr20_13384394_13643932	13394318	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAGAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	290	0.0035	29	c.117 others(48): Show c.1171-3867_1171-3866insCTTTTTTTTTTTTTTTCTTTTTTTTT TTT	TASP1	ENSG00000089123.16	transcript	ENST00000337743.9	protein_coding	13/13			chr20	TogoVar
TAT_chr16_71560660_71582092	71579082	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0033 a0001c0001t0027g0033	1	372	0.0027	29	c.-20 others(40): Show c.-2087_-2086insATATATATATATATATATATATATATATA	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1991		chr16	TogoVar
TAT_chr16_71560660_71582092	71579084	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	372	0.0027	29	c.-20 others(40): Show c.-2089_-2088insATATATATATATATATATATATATATATA	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1993		chr16	TogoVar
TAT_chr16_71560660_71582092	71579085	A A	AAAATATA others(22): Show AAAATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	29	c.-20 others(40): Show c.-2090_-2089insCATATATATATATATATATATATATATTT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1994		chr16	TogoVar
TAT_chr16_71560660_71582092	71579085	A A	AATATATA others(22): Show AATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	29	c.-20 others(40): Show c.-2090_-2089insCATATATATATATATATATATATATATAT	TAT	ENSG00000198650.11	transcript	ENST00000355962.5	protein_coding		1994		chr16	TogoVar
TBC1D22A_chr22_46757650_47180693	47003418	T T	TACCCTAC others(22): Show TACCCTACGCACACATGCCTGTACACACGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	112	0.0089	29	c.120 others(48): Show c.1201+5766_1201+5794dupGCACCCTACGCACACATGCCTGTACA CAC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47039935	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	112	0.0089	29	c.132 others(48): Show c.1329+2764_1329+2765insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47127963	T T	TTCCCTCC others(22): Show TTCCCTCCACCCCACCCATCCCCCCCATCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	112	0.0089	29	c.142 others(50): Show c.1425+16384_1425+16385insCATCCTCCCTCCACCCCACCCATC CCCCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2B_chr15_77989985_78082711	77992805	T T	TCCCCCCA others(22): Show TCCCCCCACTCCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0173 a0001c0001t0012g0173	1	280	0.0036	29	c.53 others(40): Show c.5354_*5355insGAGTGGGGGGAGTGGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2179		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992852	C C	CCCCCCCA others(22): Show CCCCCCCACTCCCCCCCACTCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	280	0.0036	29	c.53 others(40): Show c.5307_*5308insAGTGGGGGGGAGTGGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2132		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCA others(22): Show TCCCCCCACTCCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0242 a0002c0003t0001g0242	1	280	0.0036	29	c.52 others(40): Show c.5288_*5289insGAGTGGGGGGAGTGGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCC others(22): Show TCCCCCCCACTCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18950.hp2 NA18990.hp2 others(1): Show HG00438.hp2 NA18950.hp2 NA18990.hp2 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0217 a0002c0003t0001g0250 a0002c0003t0001g0251 others(1): Show a0002c0003t0001g0217 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0252	4	280	0.0143	29	c.52 others(40): Show c.5288_*5289insGAGTGGGGGGAGTGGGGGGAGTGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D7_chr6_13299951_13333537	13310637	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG02300.hp2 others(8): Show HG00741.hp2 HG01167.hp1 HG02300.hp2 HG02683.hp1 HG02809.hp1 HG03490.hp1 HG03516.hp1 HG03579.hp2 NA18954.hp1 NA18973.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0213 a0001c0001t0001g0227 a0001c0001t0001g0246 others(8): Show a0001c0001t0001g0213 a0001c0001t0001g0227 a0001c0001t0001g0246 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0102 a0001c0001t0004g0275 a0001c0001t0006g0121 a0001c0001t0012g0053 a0001c0002t0001g0178 a0001c0002t0005g0257	11	440	0.0250	29	c.520 others(46): Show c.520-2893_520-2892insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	TBC1D7	ENSG00000145979.18	transcript	ENST00000379300.8	protein_coding	5/7			chr6	TogoVar
TBC1D8B_chrX_106797673_106881150	106872455	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	226	0.0044	29	c.296 others(48): Show c.2968-1115_2968-1114insATATATATATATATATATATATATAT ATA	TBC1D8B	ENSG00000133138.20	transcript	ENST00000357242.10	protein_coding	20/20			chrX	TogoVar
TBCD_chr17_82747065_82950914	82887168	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0013 a0002c0007t0004g0013	1	318	0.0031	29	c.153 others(48): Show c.1534-2499_1534-2498insTGTGTGTGTGTGCGCGCGCGCGCGCG CAG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	15/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18948.hp1 NA18945.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0119 a0001c0001t0002g0144 a0001c0001t0001g0119 a0001c0001t0002g0144	2	306	0.0065	29	c.-12 others(50): Show c.-121-13567_-121-13566insAAATATATATATATATATATATAT ATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177112107	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	306	0.0033	29	c.-12 others(50): Show c.-121-13567_-121-13566insAAAAAAAAAAATATATATATATAT ATATA	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBL1XR1_chr3_177014344_177202482	177189649	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18522.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0181 a0001c0001t0001g0182	2	306	0.0065	29	c.-12 others(48): Show c.-122+7471_-122+7472insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TBL1XR1	ENSG00000177565.19	transcript	ENST00000457928.7	protein_coding	1/15			chr3	TogoVar
TBX19_chr1_168275877_168319426	168298824	T T	TCCCTCCC others(22): Show TCCCTCCCTCCCTCCCTTCCTTTCCTTCTC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	382	0.0026	29	c.665 others(46): Show c.665+1039_665+1040insCCCTCCCTCCCTCCCTTCCTTTCCTTCT C	TBX19	ENSG00000143178.13	transcript	ENST00000367821.8	protein_coding	4/7			chr1	TogoVar
TBX1_chr22_19755778_19772334	19768953	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG03209.hp1 NA19083.hp1 others(1): Show HG00544.hp1 HG03209.hp1 NA19083.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0030 a0002c0003t0001g0002 a0001c0002t0001g0030 a0002c0003t0001g0002	4	432	0.0093	29	c.20 others(40): Show c.2086_*2087insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBX1	ENSG00000184058.16	transcript	ENST00000649276.2	protein_coding		1620		chr22	TogoVar
TBX21_chr17_47728236_47751122	47747834	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03831.hp1 HG03471.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0018 a0001c0002t0003g0029 a0001c0001t0001g0018 a0001c0002t0003g0029	2	394	0.0051	29	c.24 others(40): Show c.2468_*2469insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TBX21	ENSG00000073861.3	transcript	ENST00000177694.2	protein_coding		1713		chr17	TogoVar
TBX22_chrX_80009753_80036774	80012157	G G	GAGAAAGA others(22): Show GAGAAAGAAGAGAAAGAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02273.hp2 HG03579.hp1 others(6): Show HG02129.hp1 HG02273.hp2 HG03579.hp1 NA18959.hp1 NA18978.hp2 NA18988.hp1 NA19056.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0041 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0177 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0241	9	325	0.0277	29	c.-27 others(40): Show c.-2733_-2732insAGAAAGAAGAGAAAGAGAGAAAGAAAGAA	TBX22	ENSG00000122145.15	transcript	ENST00000373296.8	protein_coding		2595		chrX	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18949.hp1 NA18960.hp2 HG02273.hp2 NA18949.hp1 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0005 a0001c0002t0001 a0001c0003t0005	a0001c0002t0001g0101 a0001c0003t0005g0054 a0001c0002t0001g0101 a0001c0003t0005g0054	3	438	0.0069	29	c.664 others(42): Show c.664-90_664-89insGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar
TBX2_chr17_61394843_61414466	61402971	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03017.hp2 HG02004.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0006 a0001c0003t0005 a0001c0003t0006	a0001c0003t0005g0146 a0001c0003t0006g0145 a0001c0003t0005g0146 a0001c0003t0006g0145	2	438	0.0046	29	c.664 others(42): Show c.664-90_664-89insGAGAGAGAGAGAGAGAGAGGGAGAGAGAG	TBX2	ENSG00000121068.14	transcript	ENST00000240328.4	protein_coding	2/6			chr17	TogoVar
TBXAS1_chr7_139824264_140025293	139951593	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	270	0.0037	29	c.451 others(46): Show c.451-1773_451-1745dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCERG1L_chr10_131087391_131316721	131149314	A A	AGGTAGCT others(22): Show AGGTAGCTGCTCCAGGTAGCAGACTCCAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(49): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01952.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02165.hp1 HG02273.hp1 HG02523.hp2 HG02735.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18947.hp1 NA18952.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18981.hp1 NA18981.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19057.hp1 NA19060.hp1 NA19090.hp1 NA20805.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0003t0003 a0003c0005t0008 a0009c0010t0007	a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0048 others(49): Show a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0002g0286 a0001c0001t0002g0292 a0001c0001t0003g0019 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0003g0060 a0001c0001t0003g0062 a0001c0001t0003g0070 a0001c0001t0003g0095 a0001c0001t0003g0113 a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0004g0049 a0001c0001t0004g0059 a0001c0001t0004g0080 a0001c0001t0005g0265 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0308 a0001c0001t0006g0016 a0001c0001t0006g0027 a0001c0001t0006g0033 a0001c0001t0008g0303 a0001c0001t0009g0210 a0001c0001t0009g0254 a0001c0001t0009g0267 a0001c0001t0010g0075 a0001c0001t0011g0188 a0001c0001t0020g0187 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0138 a0001c0002t0001g0162 a0001c0002t0001g0170 a0001c0002t0003g0118 a0001c0002t0003g0174 a0001c0002t0006g0150 a0001c0003t0001g0007 a0001c0003t0003g0002 a0003c0005t0008g0195 a0009c0010t0007g0234	52	324	0.1605	29	c.103 others(48): Show c.1035-2655_1035-2654insCCTGGAGTCTGCTACCTGGAGCAGCT ACC	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	6/11			chr10	TogoVar
TCF12_chr15_56913644_57294853	56984014	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01891.hp2 HG02083.hp2 others(8): Show HG00544.hp2 HG01891.hp2 HG02083.hp2 HG02896.hp1 HG03491.hp1 HG03492.hp2 NA18747.hp2 NA18960.hp2 NA19000.hp2 NA19030.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0009g0081 others(8): Show a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0009g0081 a0001c0001t0015g0043 a0001c0001t0015g0044 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0005t0001g0080	11	330	0.0333	29	c.148 others(48): Show c.148+62918_148+62919insAAAAAAAAAAAAAAAAAAAAAAAAAA GAA	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(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	330	0.0030	29	c.579 others(48): Show c.579+10574_579+10575insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF12_chr15_56913644_57294853	57250909	A A	AAAGAAGA others(22): Show AAAGAAGAAACAAAACCAAAAAAAAAGAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01109.hp2 others(15): Show HG00735.hp1 HG01074.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG04228.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0004 a0002c0003t0010 a0002c0003t0023 others(1): Show a0002c0003t0004 a0002c0003t0010 a0002c0003t0023 a0002c0006t0004	a0002c0003t0004g0269 a0002c0003t0004g0270 a0002c0003t0004g0271 others(15): Show a0002c0003t0004g0269 a0002c0003t0004g0270 a0002c0003t0004g0271 a0002c0003t0004g0273 a0002c0003t0004g0275 a0002c0003t0004g0276 a0002c0003t0004g0277 a0002c0003t0004g0278 a0002c0003t0004g0279 a0002c0003t0004g0280 a0002c0003t0004g0282 a0002c0003t0004g0285 a0002c0003t0010g0233 a0002c0003t0010g0283 a0002c0003t0010g0284 a0002c0003t0010g0307 a0002c0003t0023g0272 a0002c0006t0004g0305	18	330	0.0546	29	c.111 others(46): Show c.1115-418_1115-417insAAGAATAAGAAGAAACAAAACCAAAAAA A	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCF20_chr22_42155013_42275653	42219355	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18975.hp1 HG01071.hp2 NA18975.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0227 a0003c0004t0001g0119 a0001c0001t0001g0227 a0003c0004t0001g0119	2	355	0.0056	29	c.-36 others(46): Show c.-36-4015_-36-4014insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF20_chr22_42155013_42275653	42242227	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG00738.hp1 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0053 a0002c0003t0001g0055	2	355	0.0056	29	c.-36 others(48): Show c.-36-26887_-36-26886insATTTTTTTTTTTTTTTTTTTTTTTTT TTT	TCF20	ENSG00000100207.21	transcript	ENST00000677622.1	protein_coding	1/5			chr22	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	300	0.0033	29	c.-46 others(40): Show c.-4615_-4614insAAAAAAAATATATATATATATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03540.hp1 NA20300.hp2 HG02976.hp2 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0093 a0001c0004t0002g0061 a0001c0004t0002g0064 a0001c0001t0001g0093 a0001c0004t0002g0061 a0001c0004t0002g0064	3	300	0.0100	29	c.-46 others(40): Show c.-4615_-4614insAAAATATATATATATATATATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF25_chr16_89868592_89916379	89869053	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	300	0.0033	29	c.-46 others(40): Show c.-4615_-4614insAATATATATATATATATATATATATATAT	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding		4538		chr16	TogoVar
TCF7L1_chr2_85128392_85315387	85299860	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03139.hp2 NA18966.hp1 others(2): Show HG02083.hp2 HG03139.hp2 NA18966.hp1 NA18966.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0105 a0001c0001t0001g0227 a0001c0001t0002g0174 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0227 a0001c0001t0002g0174 a0002c0002t0001g0087 a0002c0002t0003g0079	5	236	0.0212	29	c.526 others(46): Show c.526-2624_526-2623insCACACACACACACACACACACACACACA C	TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	4/11			chr2	TogoVar
TCF7L2_chr10_112945247_113172678	112964813	G G	GATGGTGG others(22): Show GATGGTGGTGATGGTGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG03195.hp1 others(1): Show HG02145.hp2 HG02486.hp1 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0026 a0001c0001t0001 a0001c0001t0004 a0001c0001t0026	a0001c0001t0001g0125 a0001c0001t0004g0126 a0001c0001t0004g0141 others(1): Show a0001c0001t0001g0125 a0001c0001t0004g0126 a0001c0001t0004g0141 a0001c0001t0026g0124	4	200	0.0200	29	c.450 others(44): Show c.450+189_450+190insATGGTGGTGATGGTGGTGGTGGTGGTGGT	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14			chr10	TogoVar
TCF7L2_chr10_112945247_113172678	112964813	G G	GGTGGTGG others(22): Show GGTGGTGGTGATGGTGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	200	0.0050	29	c.450 others(44): Show c.450+190_450+191insTGGTGGTGATGGTGGTGGTGGTGGTGGTG	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCL1A_chr14_95704947_95719125	95710341	T T	TGGGCAGG others(22): Show TGGGCAGGCAGCGTTTGCAGGCGTGTTTAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0070 a0001c0001t0016g0070	1	374	0.0027	29	c.51 others(38): Show c.518_*546dupGTAAACACGCCTGCAAACGCTGCCTGCCC	TCL1A	ENSG00000100721.11	transcript	ENST00000402399.6	protein_coding	4/4	1413		chr14	TogoVar
TCL1A_chr14_95704947_95719125	95710371	G G	GGGCAGGC others(22): Show GGGCAGGCAGCGTTTGCAGGCGTGTTTACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02818.hp1 others(4): Show HG02486.hp2 HG02615.hp1 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0033 others(3): Show a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0005g0016 a0001c0001t0005g0031	7	374	0.0187	29	c.48 others(38): Show c.488_*516dupGGTAAACACGCCTGCAAACGCTGCCTGCC	TCL1A	ENSG00000100721.11	transcript	ENST00000402399.6	protein_coding	4/4	1383		chr14	TogoVar
TCP11L1_chr11_33034572_33078550	33073398	G G	GTGAAAGG others(22): Show GTGAAAGGAAAGTCTTTGACTTTCAAGCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0008 a0001c0002t0009g0008	1	390	0.0026	29	c.72 others(38): Show c.729_*757dupGAAAGTCTTTGACTTTCAAGCCTTGAAAG	TCP11L1	ENSG00000176148.16	transcript	ENST00000334274.9	protein_coding	10/10	758	INFO_REALIGN_3_PRIME	chr11	TogoVar
TCP11L2_chr12_106297733_106352003	106349049	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0044 a0001c0001t0014g0044	1	344	0.0029	29	c.25 others(40): Show c.2519_*2520insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TCP11L2	ENSG00000166046.11	transcript	ENST00000299045.8	protein_coding		2047		chr12	TogoVar
TDP2_chr6_24644979_24671899	24648659	G G	GAAAAAAA others(22): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01993.hp2 others(9): Show HG00597.hp2 HG00621.hp1 HG01993.hp2 HG03486.hp1 NA18951.hp2 NA18963.hp2 NA18969.hp1 NA18986.hp1 NA18994.hp1 NA19062.hp2 NA19084.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0043 a0002c0002t0001g0001	12	418	0.0287	29	c.21 others(40): Show c.2128_*2129insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		1319		chr6	TogoVar
TDRD9_chr14_103923456_104057667	103968795	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03130.hp1 HG02080.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0272 a0001c0001t0001g0247 a0001c0001t0001g0272	2	372	0.0054	29	c.766 others(46): Show c.766-1737_766-1736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
TEAD1_chr11_12669421_12949737	12719949	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0194 a0001c0001t0007g0194	1	206	0.0049	29	c.-54 others(48): Show c.-54-44213_-54-44185dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	2/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEAD1_chr11_12669421_12949737	12821961	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01928.hp1 HG00642.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0063 a0001c0001t0004g0095 a0001c0001t0003g0063 a0001c0001t0004g0095	2	206	0.0097	29	c.203 others(48): Show c.203-40269_203-40268insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEAD3_chr6_35468597_35502079	35497731	G G	GGACCCGC others(22): Show GGACCCGCGACGGGCGCGGGGAGGGGACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0214 a0001c0003t0002g0214	1	396	0.0025	29	c.-88 others(38): Show c.-884_-883insGCGTCCCCTCCCCGCGCCCGTCGCGGGTC	TEAD3	ENSG00000007866.22	transcript	ENST00000338863.13	protein_coding		653	WARNING_TRANSCRIPT_NO_START_CODON	chr6	TogoVar

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Search Results (Total: 6085 hits)