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
TMEM63C_chr14_77176798_77264495	77194553	C C	CTTTTTTC others(16): Show CTTTTTTCTTTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0198 a0001c0001t0010g0198	1	322	0.0031	23	c.-77 others(42): Show c.-77+12660_-77+12661insTTTTTCTTTTTCTTTCTTTCTTT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM65_chr8_124301189_124377701	124339222	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19088.hp1 NA19088.hp2 NA19072.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0051 a0001c0001t0004 a0001c0001t0020 a0001c0001t0051	a0001c0001t0004g0147 a0001c0001t0020g0266 a0001c0001t0051g0269 a0001c0001t0004g0147 a0001c0001t0020g0266 a0001c0001t0051g0269	3	348	0.0086	23	c.305 others(40): Show c.305-8431_305-8430insATATATATATATATATATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM79_chr1_156279325_156297443	156296579	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	23	c.49 others(34): Show c.4981_*4982insAATATATATATATATATATATAT	TMEM79	ENSG00000163472.19	transcript	ENST00000405535.3	protein_coding		4137		chr1	TogoVar
TMEM86A_chr11_18693779_18709785	18698474	C C	CTGTGCGT others(16): Show CTGTGCGTCCAGGACAGCAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	468	0.0021	23	c.-41 others(32): Show c.-413_-412insTGTGCGTCCAGGACAGCAATGTG	TMEM86A	ENSG00000151117.9	transcript	ENST00000280734.3	protein_coding		304		chr11	TogoVar
TMEM87B_chr2_112050269_112124314	112051508	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 NA19091.hp2 HG01099.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0211 a0001c0001t0002g0062 a0001c0001t0001g0211 a0001c0001t0002g0062	2	316	0.0063	23	c.-40 others(34): Show c.-4084_-4083insTATATATATATATATATATTTTT	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding		3760		chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112051508	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0001 a0001c0001t0036g0001	1	316	0.0032	23	c.-40 others(34): Show c.-4084_-4083insTATATATATATATTTTTTTTTTT	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding		3760		chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112051508	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	316	0.0032	23	c.-40 others(34): Show c.-4084_-4083insTATATATATATTTTTTTTTTTTT	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding		3760		chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112051508	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	316	0.0032	23	c.-40 others(34): Show c.-4084_-4083insTATATTTTTTTTTTTTTTTTTTT	TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding		3760		chr2	TogoVar
TMEM94_chr17_75451635_75505452	75464610	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	354	0.0028	23	c.-10 others(42): Show c.-106-7190_-106-7189insTTTCTTTCTTTCTTTCTTTCTTT	TMEM94	ENSG00000177728.17	transcript	ENST00000314256.12	protein_coding	1/31			chr17	TogoVar
TMEM94_chr17_75451635_75505452	75465679	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	354	0.0028	23	c.-10 others(42): Show c.-106-6120_-106-6119insATATATATATATATATTTTTTTT	TMEM94	ENSG00000177728.17	transcript	ENST00000314256.12	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM97_chr17_28314200_28333685	28333072	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	374	0.0027	23	c.62 others(34): Show c.6279_*6280insCACACACACACACACACACACAC	TMEM97	ENSG00000109084.14	transcript	ENST00000226230.8	protein_coding		4388		chr17	TogoVar
TMIGD2_chr19_4287227_4307389	4296008	T T	TCCTGGGC others(16): Show TCCTGGGCTCAAGTGATCCTCCCG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	436	0.0023	23	c.407 others(40): Show c.407-1215_407-1193dupCGGGAGGATCACTTGAGCCCAGG	TMIGD2	ENSG00000167664.9	transcript	ENST00000595645.6	protein_coding	2/4			chr19	TogoVar
TMLHE_chrX_155484011_155617952	155616100	G G	GTCTCTCT others(16): Show GTCTCTCTCCCCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0195 a0001c0001t0024g0195	1	216	0.0046	23	c.-33 others(34): Show c.-3311_-3310insGAGAGAGAGAGAGGGGAGAGAGA	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding		3149		chrX	TogoVar
TMLHE_chrX_155484011_155617952	155616100	G G	GTCTCTCT others(16): Show GTCTCTCTCCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 NA18945.hp1 NA19011.hp1 others(1): Show HG02015.hp1 NA18945.hp1 NA19011.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0122 a0001c0001t0003g0175 a0001c0001t0003g0197 others(1): Show a0001c0001t0002g0122 a0001c0001t0003g0175 a0001c0001t0003g0197 a0001c0001t0009g0160	4	216	0.0185	23	c.-33 others(34): Show c.-3311_-3310insGAGAGAGAGAGAGAGGAGAGAGA	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding		3149		chrX	TogoVar
TMLHE_chrX_155484011_155617952	155616130	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG01071.hp1 others(31): Show HG00544.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp1 HG01192.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG03490.hp1 HG03834.hp2 HG03942.hp1 NA18953.hp1 NA18962.hp1 NA18965.hp1 NA18974.hp1 NA18986.hp1 NA18994.hp1 NA19000.hp1 NA19012.hp1 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19082.hp1 NA19090.hp1 NA20752.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0048 a0003c0005t0052	a0001c0001t0002g0003 a0001c0001t0002g0124 a0001c0001t0002g0128 others(31): Show a0001c0001t0002g0003 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0181 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0003g0114 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0142 a0001c0001t0003g0156 a0001c0001t0003g0164 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0005g0125 a0001c0001t0005g0143 a0001c0001t0005g0212 a0001c0001t0006g0149 a0001c0001t0006g0203 a0001c0001t0006g0208 a0001c0001t0009g0161 a0001c0001t0009g0171 a0001c0001t0022g0093 a0001c0001t0025g0202 a0001c0001t0033g0174 a0001c0001t0035g0154 a0001c0001t0048g0118 a0003c0005t0052g0200	34	216	0.1574	23	c.-33 others(34): Show c.-3341_-3340insAGAGAGAGAGAGAGAGAGAGAGA	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding		3179		chrX	TogoVar
TMOD3_chr15_51824653_51920725	51832203	T T	TTATATAT others(16): Show TTATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0329 a0001c0001t0009g0329	1	372	0.0027	23	c.-75 others(40): Show c.-75+2378_-75+2379insTATATATATATATATATATATAT	TMOD3	ENSG00000138594.14	transcript	ENST00000308580.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMOD3_chr15_51824653_51920725	51832230	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0347 a0001c0001t0046g0347	1	372	0.0027	23	c.-75 others(40): Show c.-75+2396_-75+2397insATATATATATATATATATATAAT	TMOD3	ENSG00000138594.14	transcript	ENST00000308580.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMOD3_chr15_51824653_51920725	51839163	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp2 HG01891.hp1 others(14): Show HG01167.hp2 HG01496.hp2 HG01891.hp1 HG01993.hp1 HG02257.hp2 HG02273.hp2 HG02698.hp1 HG02922.hp2 HG03704.hp2 HG03710.hp2 NA18963.hp2 NA19002.hp2 NA19054.hp2 NA19058.hp2 NA19081.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0238 others(14): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0238 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0302 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0325 a0001c0001t0007g0290	17	372	0.0457	23	c.-75 others(40): Show c.-75+9328_-75+9329insTTTTTTTTTTTTTTTTTTTTTTT	TMOD3	ENSG00000138594.14	transcript	ENST00000308580.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMPO_chr12_98510590_98555351	98521100	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	376	0.0027	23	c.279 others(40): Show c.279+4957_279+4979dupTTTTTTTTTTTTTTTTTTTTTTT	TMPO	ENSG00000120802.14	transcript	ENST00000556029.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS11A_chr4_67904395_67968493	67920550	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0204 a0001c0003t0005g0204	1	394	0.0025	23	c.693 others(40): Show c.693-1319_693-1318insTATATATATATATATATATATAT	TMPRSS11A	ENSG00000187054.16	transcript	ENST00000508048.6	protein_coding	7/9			chr4	TogoVar
TMPRSS12_chr12_50837926_50892884	50872596	G G	GTATATGT others(16): Show GTATATGTACATATATATGACGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02896.hp1 others(3): Show HG02257.hp1 HG02559.hp2 HG02896.hp1 HG02897.hp1 NA19030.hp2 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0004 a0001c0001t0001 a0007c0008t0004	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0007c0008t0004g0016	6	390	0.0154	23	c.653 others(42): Show c.653-12623_653-12601dupATGTACATATATATGACGTATAT	TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS12_chr12_50837926_50892884	50872687	C C	CACATATA others(16): Show CACATATATATGACGTATATGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	390	0.0026	23	c.653 others(42): Show c.653-12539_653-12517dupGTGTACATATATATGACGTATAT	TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS12_chr12_50837926_50892884	50872748	C C	CTATATAT others(16): Show CTATATATGTACATATATATGACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp2 HG02258.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	390	0.0051	23	c.653 others(42): Show c.653-12427_653-12405dupATATATGTACATATATATGACGT	TMPRSS12	ENSG00000186452.11	transcript	ENST00000398458.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS15_chr21_18264116_18408785	18280575	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03540.hp2 HG03041.hp1 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0007 a0007c0048 a0001c0007 a0007c0048	a0001c0007t0002 a0007c0048t0008 a0001c0007t0002 a0007c0048t0008	a0001c0007t0002g0210 a0007c0048t0008g0200 a0001c0007t0002g0210 a0007c0048t0008g0200	2	314	0.0064	23	c.266 others(40): Show c.2668+464_2668+465insTTTTTTTTTTTTTTTTTTTTTTT	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	22/24			chr21	TogoVar
TMPRSS15_chr21_18264116_18408785	18345740	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02886.hp1 HG03669.hp2 others(1): Show HG00642.hp1 HG02886.hp1 HG03669.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0045 others(1): Show a0001c0001 a0002c0002 a0002c0045 a0003c0003	a0001c0001t0001 a0002c0002t0006 a0002c0045t0002 others(1): Show a0001c0001t0001 a0002c0002t0006 a0002c0045t0002 a0003c0003t0001	a0001c0001t0001g0129 a0002c0002t0006g0290 a0002c0045t0002g0305 others(1): Show a0001c0001t0001g0129 a0002c0002t0006g0290 a0002c0045t0002g0305 a0003c0003t0001g0145	4	314	0.0127	23	c.117 others(42): Show c.1172-1681_1172-1680insTTTTTTTTTTTTTTTTTTTTTTT	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	10/24			chr21	TogoVar
TMPRSS15_chr21_18264116_18408785	18396792	A A	AAAATCTG others(16): Show AAAATCTGTCTGTCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(12): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG01981.hp2 HG02273.hp2 HG02622.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 NA18966.hp2 NA19003.hp2 NA19054.hp1 NA19059.hp1 NA20752.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0002c0011 a0010c0024	a0001c0001t0001 a0001c0006t0001 a0001c0007t0002 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0002 a0002c0002t0001 a0002c0011t0002 a0010c0024t0008	a0001c0001t0001g0195 a0001c0001t0001g0222 a0001c0001t0001g0223 others(12): Show a0001c0001t0001g0195 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0006t0001g0230 a0001c0006t0001g0235 a0001c0007t0002g0194 a0002c0002t0001g0221 a0002c0002t0001g0231 a0002c0002t0001g0236 a0002c0011t0002g0091 a0010c0024t0008g0232	15	314	0.0478	23	c.344 others(40): Show c.344+1086_344+1087insCAGACAGACAGACAGACAGATTT	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	3/24			chr21	TogoVar
TMPRSS5_chr11_113682550_113711308	113699270	T T	TCTCTCTC others(16): Show TCTCTCTCTCCCCCCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp2 HG02970.hp1 HG02970.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0001 a0011c0015t0001 a0001c0001t0001 a0011c0015t0001	a0001c0001t0001g0159 a0011c0015t0001g0098 a0001c0001t0001g0159 a0011c0015t0001g0098	2	426	0.0047	23	c.206 others(38): Show c.206-244_206-243insGGAGAGAGAGGGGGGAGAGAGAG	TMPRSS5	ENSG00000166682.13	transcript	ENST00000299882.11	protein_coding	3/12			chr11	TogoVar
TMPRSS6_chr22_37060436_37114713	37075983	A A	AAGAAAGA others(16): Show AAGAAAGAGAAAGAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02970.hp2 HG01109.hp2 HG02970.hp2	a0012 a0019 a0012 a0019	a0012c0075 a0019c0074 a0012c0075 a0019c0074	a0012c0075t0001 a0019c0074t0001 a0012c0075t0001 a0019c0074t0001	a0012c0075t0001g0012 a0019c0074t0001g0319 a0012c0075t0001g0012 a0019c0074t0001g0319	2	348	0.0058	23	c.119 others(40): Show c.1197-704_1197-703insCTTTCTTCTTTCTTTCTCTTTCT	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	10/17			chr22	TogoVar
TMPRSS7_chr3_112029736_112086269	112051641	T T	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18942.hp2 HG00323.hp1 NA18942.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0251 a0005c0007t0001g0111 a0001c0001t0001g0251 a0005c0007t0001g0111	2	420	0.0048	23	c.120 others(40): Show c.1203+859_1203+881dupATCTATCTATCTATCTATCTATC	TMPRSS7	ENSG00000176040.14	transcript	ENST00000452346.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMPRSS7_chr3_112029736_112086269	112054729	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG04184.hp1 HG02886.hp2 HG04184.hp1	a0008 a0013 a0008 a0013	a0008c0021 a0013c0051 a0008c0021 a0013c0051	a0008c0021t0001 a0013c0051t0001 a0008c0021t0001 a0013c0051t0001	a0008c0021t0001g0032 a0013c0051t0001g0053 a0008c0021t0001g0032 a0013c0051t0001g0053	2	420	0.0048	23	c.120 others(42): Show c.1204-2289_1204-2267dupTTTTTTTTTTTTTTTTTTTTTTT	TMPRSS7	ENSG00000176040.14	transcript	ENST00000452346.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
TMPRSS9_chr19_2355265_2431261	2370806	A A	AAAAAAAT others(16): Show AAAAAAATTAACCCAGCGTGGTGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0002 a0008c0024t0002	a0008c0024t0002g0114 a0008c0024t0002g0114	1	114	0.0088	23	c.-26 others(42): Show c.-26+10447_-26+10469dupAAAAAATTAACCCAGCGTGGTGG	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMSB15C_chrX_104067887_104081236	104071437	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	94	0.0106	23	c.18 others(34): Show c.1849_*1850insCTTTCTTTCTTTCTTTCTTTCTT	TMSB15C	ENSG00000269226.8	transcript	ENST00000598087.4	protein_coding		1449		chrX	TogoVar
TMTC1_chr12_29495840_29788942	29725011	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0058 a0001c0007t0058	a0001c0007t0058g0022 a0001c0007t0058g0022	1	276	0.0036	23	c.938 others(42): Show c.938+26654_938+26655insAAAAAAAAAAAAAAAAAAAAAAA	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TMX4_chr20_7972346_8024761	8018528	G G	GAGAGAGT others(16): Show GAGAGAGTCTCAGCAATCATTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0246 a0002c0001t0013g0246	1	346	0.0029	23	c.176 others(38): Show c.176+909_176+910insGAAAATGATTGCTGAGACTCTCT	TMX4	ENSG00000125827.9	transcript	ENST00000246024.7	protein_coding	1/7			chr20	TogoVar
TMX4_chr20_7972346_8024761	8018528	G G	GAGAGTGT others(16): Show GAGAGTGTCTCAGCAATCATTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0162 a0002c0001t0012g0162	1	346	0.0029	23	c.176 others(38): Show c.176+909_176+910insGAAAATGATTGCTGAGACACTCT	TMX4	ENSG00000125827.9	transcript	ENST00000246024.7	protein_coding	1/7			chr20	TogoVar
TNFAIP1_chr17_28330761_28352009	28333072	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	340	0.0029	23	c.-28 others(34): Show c.-2899_-2898insCACACACACACACACACACACAC	TNFAIP1	ENSG00000109079.10	transcript	ENST00000226225.7	protein_coding		2688		chr17	TogoVar
TNFAIP8L2_chr1_151151649_151164749	151160238	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG03239.hp2 HG03669.hp1 HG00673.hp1 HG03239.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	348	0.0086	23	c.98 others(32): Show c.986_*987insAAAAAAAAAAAAAAAAAAAAAAA	TNFAIP8L2	ENSG00000163154.6	transcript	ENST00000368910.4	protein_coding		490		chr1	TogoVar
TNFRSF10B_chr8_23015133_23074031	23019331	G G	GCCCCTCC others(16): Show GCCCCTCCAGGACTGTGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA18975.hp2 HG02135.hp2 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0234 a0002c0002t0004g0342 a0001c0001t0001g0234 a0002c0002t0004g0342	2	384	0.0052	23	c.33 others(34): Show c.3317_*3339dupAGGCAGCCACAGTCCTGGAGGGG	TNFRSF10B	ENSG00000120889.13	transcript	ENST00000276431.9	protein_coding		801		chr8	TogoVar
TNFRSF10B_chr8_23015133_23074031	23040422	A A	ATTATATA others(16): Show ATTATATATGTACAAAATATGTAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02572.hp2 HG02896.hp2 others(2): Show HG02293.hp1 HG02572.hp2 HG02896.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0004 a0001c0001t0002 a0001c0001t0003 a0002c0002t0004	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0218 others(2): Show a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0218 a0001c0001t0003g0020 a0002c0002t0004g0352	5	384	0.0130	23	c.250 others(40): Show c.250+2715_250+2716insATACATATTTTGTACATATATAA	TNFRSF10B	ENSG00000120889.13	transcript	ENST00000276431.9	protein_coding	2/8			chr8	TogoVar
TNFRSF13C_chr22_41917032_41931806	41924949	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0087 a0001c0001t0083g0087	1	314	0.0032	23	c.39 others(32): Show c.395_*417dupTTTTTTTTTTTTTTTTTTTTTTT	TNFRSF13C	ENSG00000159958.7	transcript	ENST00000291232.5	protein_coding	3/3	417		chr22	TogoVar
TNFSF12_chr17_7544058_7562881	7548190	T T	TCCCTCCC others(16): Show TCCCTCCCTCCCTCTTTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0085 a0001c0003t0003g0085	1	436	0.0023	23	c.-96 others(32): Show c.-964_-963insCCCTCCCTCCCTCTTTCCCCCCC	TNFSF12	ENSG00000239697.12	transcript	ENST00000293825.11	protein_coding		867		chr17	TogoVar
TNFSF18_chr1_173034202_173055941	173036791	T T	TCCTTAAA others(16): Show TCCTTAAAGTTGTTTACTGCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	346	0.0029	23	c.45 others(34): Show c.4575_*4576insGATAGCAGTAAACAACTTTAAGG	TNFSF18	ENSG00000120337.10	transcript	ENST00000404377.5	protein_coding		2410		chr1	TogoVar
TNIK_chr3_171053414_171465405	171376750	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0098 a0001c0006t0020g0098	1	104	0.0096	23	c.58- others(38): Show c.58-7088_58-7066dupATCTATCTATCTATCTATCTATC	TNIK	ENSG00000154310.17	transcript	ENST00000436636.7	protein_coding	1/32			chr3	TogoVar
TNKS_chr8_9550912_9787346	9698374	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01346.hp1 HG01496.hp2 others(7): Show HG01070.hp2 HG01346.hp1 HG01496.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02257.hp2 HG02293.hp1 HG04199.hp2 NA18990.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0023 a0004c0024 a0001c0002 a0001c0023 a0004c0024	a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 others(3): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0018 a0001c0023t0003 a0004c0024t0004	a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0248 others(7): Show a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0248 a0001c0002t0004g0252 a0001c0002t0004g0255 a0001c0002t0005g0258 a0001c0002t0008g0266 a0001c0002t0018g0250 a0001c0023t0003g0110 a0004c0024t0004g0245	10	272	0.0368	23	c.110 others(42): Show c.1108-6272_1108-6271insAAAAAAAAAAAAAAAAAAAAAAA	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TNKS_chr8_9550912_9787346	9717102	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	272	0.0037	23	c.175 others(42): Show c.1750-3272_1750-3271insATATATATATATATATATATATA	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	11/26			chr8	TogoVar
TNNI3K_chr1_74230387_74549428	74451683	T T	TTTTCTTT others(16): Show TTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	194	0.0052	23	c.201 others(44): Show c.2012-11751_2012-11750insTCTTTTCTTTTCTTTCTTTCTTT	TNNI3K	ENSG00000116783.15	transcript	ENST00000326637.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
TNNI3_chr19_55146767_55162732	55150597	G G	GCTGTGAC others(16): Show GCTGTGACAATAGAGATCAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	388	0.0026	23	c.12 others(34): Show c.1236_*1237insTCTTCTGATCTCTATTGTCACAG	TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding		1169		chr19	TogoVar
TNN_chr1_175062833_175153075	175099586	C C	CTCAGGAG others(16): Show CTCAGGAGGAGGAGAGGTGAGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG02622.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1	a0001 a0033 a0034 others(1): Show a0001 a0033 a0034 a0035	a0001c0016 a0001c0028 a0033c0072 others(2): Show a0001c0016 a0001c0028 a0033c0072 a0034c0070 a0035c0071	a0001c0016t0008 a0001c0028t0007 a0033c0072t0004 others(2): Show a0001c0016t0008 a0001c0028t0007 a0033c0072t0004 a0034c0070t0004 a0035c0071t0004	a0001c0016t0008g0045 a0001c0028t0007g0044 a0001c0028t0007g0046 others(3): Show a0001c0016t0008g0045 a0001c0028t0007g0044 a0001c0028t0007g0046 a0033c0072t0004g0013 a0034c0070t0004g0014 a0035c0071t0004g0015	6	374	0.0160	23	c.211 others(42): Show c.2119+1047_2119+1069dupGGAGAGGTGAGGGGTCAGGAGGA	TNN	ENSG00000120332.17	transcript	ENST00000239462.9	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
TNN_chr1_175062833_175153075	175112598	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG01891.hp2 HG02896.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0014 a0001c0001 a0013c0014	a0001c0001t0001 a0013c0014t0001 a0001c0001t0001 a0013c0014t0001	a0001c0001t0001g0333 a0013c0014t0001g0060 a0001c0001t0001g0333 a0013c0014t0001g0060	2	374	0.0054	23	c.212 others(42): Show c.2120-4326_2120-4304dupTTTTTTTTTTTTTTTTTTTTTTT	TNN	ENSG00000120332.17	transcript	ENST00000239462.9	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
TNP1_chr2_216854458_216865064	216858223	A A	AGCATGCT others(16): Show AGCATGCTCATTCTTAGGGTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	23	c.14 others(34): Show c.1443_*1444insCATAACCCTAAGAATGAGCATGC	TNP1	ENSG00000118245.2	transcript	ENST00000236979.2	protein_coding		1234		chr2	TogoVar

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Search Results (Total: 8696 hits)