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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TMEM63C_chr14_77176798_77264495	77235897	GAGGGAGC others(33): Show GAGGGAGCAGGGAGCCCTAGGAGACTGTGATGGGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0226 a0001c0001t0008g0226	1	322	0.0031	-40	c.543 others(55): Show c.543-726_543-687delAGGGAGCAGGGAGCCCTAGGAGACTGTGAT GGGTGGGGGA		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23						chr14	TogoVar
TMEM68_chr8_55733758_55778378	55754597	GTAATATA others(33): Show GTAATATATATTTATATTATATATAAAATACATACATTATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02630.hp1 others(4): Show HG01891.hp2 HG02559.hp2 HG02630.hp1 HG02922.hp2 HG02976.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0072 a0001c0001t0001g0154 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0072 a0001c0001t0001g0154 a0001c0001t0001g0174 a0001c0001t0001g0175	7	372	0.0188	-40	c.493 others(57): Show c.493+1607_493+1646delTATAATGTATGTATTTTATATATAATAT AAATATATATTA		TMEM68	ENSG00000167904.16	transcript	ENST00000434581.7	protein_coding	4/7						chr8	TogoVar
TMEM87B_chr2_112050269_112124314	112113785	GATGTAGC others(33): Show GATGTAGCATTACAGAAAGATTCATAACTCTACAGAAAGAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	316	0.0032	-40	c.160 others(57): Show c.1608+857_1608+896delATGTAGCATTACAGAAAGATTCATAACT CTACAGAAAGAT		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18						chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112113925	ACTCTACA others(33): Show ACTCTACAGAAAGATGTAGCATTACAGAAAGATTCATAACT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0113 a0002c0002t0004g0114 a0002c0002t0004g0113 a0002c0002t0004g0114	2	316	0.0063	-40	c.160 others(58): Show c.1608+999_1608+1038delCTACAGAAAGATGTAGCATTACAGAAA GATTCATAACTCT		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112114381	ACTCTACA others(33): Show ACTCTACAGAAAGACGTAGCATTACAGAAAGATTCATAACT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0022 a0002c0002t0004g0022	1	316	0.0032	-40	c.160 others(59): Show c.1608+1455_1608+1494delCTACAGAAAGACGTAGCATTACAGAA AGATTCATAACTCT		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM87B_chr2_112050269_112124314	112115141	ACTCTACA others(33): Show ACTCTACAGAAAGAGGTAGCATTACAGAAAGATTCATAACT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	316	0.0032	-40	c.160 others(57): Show c.1609-940_1609-901delCTACAGAAAGAGGTAGCATTACAGAAAG ATTCATAACTCT		TMEM87B	ENSG00000153214.11	transcript	ENST00000283206.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM92_chr17_50269466_50286485	50271347	GTTTTGTT others(33): Show GTTTTGTTTTTCTTTTTAGAGCGAGGGTGGTGCTCTGTCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	482	0.0021	-40	c.-31 others(51): Show c.-3154_-3115delTTTTGTTTTTCTTTTTAGAGCGAGGGTGGTGCTC TGTCAC		TMEM92	ENSG00000167105.8	transcript	ENST00000507382.2	protein_coding					3118		chr17	TogoVar
TMEM98_chr17_32923153_32949315	32923265	GGGCGGCC others(33): Show GGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	402	0.0025	-40	c.-51 others(51): Show c.-5102_-5063delGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGA TGGGAT		TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding					4887		chr17	TogoVar
TMIGD2_chr19_4287227_4307389	4303709	ATAATTTA others(33): Show ATAATTTAAAAAATCTTCCTTTGAGGTTCAGAGAAATAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0054 a0001c0002t0004g0054	1	436	0.0023	-40	c.-13 others(51): Show c.-1364_-1325delATCTATTTCTCTGAACCTCAAAGGAAGATTTTTT AAATTA		TMIGD2	ENSG00000167664.9	transcript	ENST00000595645.6	protein_coding					1321		chr19	TogoVar
TMOD2_chr15_51746597_51821363	51795565	GCTTGCTT others(33): Show GCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01099.hp1 others(2): Show HG00323.hp1 HG00609.hp2 HG01099.hp1 HG01192.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0094 a0001c0001t0002g0126 a0001c0001t0002g0127 others(2): Show a0001c0001t0002g0094 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0021g0090	5	374	0.0134	-40	c.733 others(57): Show c.733-2628_733-2589delGCTTGCTTGCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT		TMOD2	ENSG00000128872.10	transcript	ENST00000249700.9	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
TMPRSS11A_chr4_67904395_67968493	67968265	GTTTTTTT others(33): Show GTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	394	0.0025	-40	c.-49 others(51): Show c.-4912_-4873delAGAATCTACAATGAACTCAAACAAATTTACAAGA AAAAAA		TMPRSS11A	ENSG00000187054.16	transcript	ENST00000508048.6	protein_coding					4773		chr4	TogoVar
TMPRSS11D_chr4_67815876_67889002	67857292	TATATATA others(33): Show TATATATATATATATATATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	340	0.0029	-40	c.130 others(57): Show c.130+2225_130+2264delGTGTGTGTGTATATATATATATATATAT ATATATATATAT		TMPRSS11D	ENSG00000153802.12	transcript	ENST00000283916.11	protein_coding	2/9						chr4	TogoVar
TMPRSS2_chr21_41459305_41513158	41474354	AGTGAGGG others(33): Show AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp1 HG02622.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0004 a0002c0006t0015 a0001c0002t0004 a0002c0006t0015	a0001c0002t0004g0010 a0002c0006t0015g0258 a0001c0002t0004g0010 a0002c0006t0015g0258	2	382	0.0052	-40	c.728 others(55): Show c.728-898_728-859delCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCAC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474361	GGGTGAGG others(33): Show GGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0370 a0001c0002t0005g0370	1	382	0.0026	-40	c.728 others(55): Show c.728-905_728-866delTCCTCACCCACCCCCTCACTCACTCCCTCA CCCCCTCACC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474434	AGTGAGGG others(33): Show AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00639.hp1 HG00642.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0345 a0001c0012t0005g0346 a0001c0012t0005g0345 a0001c0012t0005g0346	2	382	0.0052	-40	c.728 others(55): Show c.728-978_728-939delCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCAC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TMTC2_chr12_82681906_83139866	82963792	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0003 a0001c0005t0026g0003	1	96	0.0104	-40	c.159 others(59): Show c.1599-1213_1599-1174delATATATATATATATATATATATATAT ATATATATATATAT		TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
TMTC4_chr13_100598625_100679795	100632029	ACACACAC others(33): Show ACACACACACACACACACACACACACTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04199.hp1 HG03704.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0099 a0001c0005t0001g0111 a0001c0005t0001g0099 a0001c0005t0001g0111	2	346	0.0058	-40	c.150 others(59): Show c.1506+2736_1506+2775delAGAGAGAGAGAGAGAGTGTGTGTGTG TGTGTGTGTGTGTG		TMTC4	ENSG00000125247.16	transcript	ENST00000342624.10	protein_coding	12/18						chr13	TogoVar
TNC_chr9_115014575_115123157	115069602	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0030 a0030	a0030c0047 a0030c0047	a0030c0047t0001 a0030c0047t0001	a0030c0047t0001g0358 a0030c0047t0001g0358	1	366	0.0027	-40	c.321 others(59): Show c.3214+3961_3214+4000delAAGGGAGGGAGGGAGGGAGGGAGAGA GGGAGGGAGGGAGG		TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27						chr9	TogoVar
TNC_chr9_115014575_115123157	115069686	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0360 a0003c0003t0019g0360	1	366	0.0027	-40	c.321 others(59): Show c.3214+3877_3214+3916delAAGGAAGGAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGG		TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27						chr9	TogoVar
TNC_chr9_115014575_115123157	115069694	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02896.hp2 HG02698.hp1 HG02896.hp2	a0004 a0006 a0004 a0006	a0004c0018 a0006c0007 a0004c0018 a0006c0007	a0004c0018t0004 a0006c0007t0005 a0004c0018t0004 a0006c0007t0005	a0004c0018t0004g0334 a0006c0007t0005g0204 a0004c0018t0004g0334 a0006c0007t0005g0204	2	366	0.0055	-40	c.321 others(59): Show c.3214+3869_3214+3908delAAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGAGGGAGG		TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27						chr9	TogoVar
TNC_chr9_115014575_115123157	115069734	TCCTCCCT others(33): Show TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0103 a0005c0103	a0005c0103t0012 a0005c0103t0012	a0005c0103t0012g0091 a0005c0103t0012g0091	1	366	0.0027	-40	c.321 others(59): Show c.3214+3829_3214+3868delGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGG		TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27						chr9	TogoVar
TNFAIP2_chr14_103118461_103142439	103131983	AGAGGGGC others(33): Show AGAGGGGCCGCCTGGGGCTGGGAGGGGCCGCCTGGGGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18956.hp2 NA18993.hp2 others(3): Show HG02976.hp2 NA18956.hp2 NA18993.hp2 NA19030.hp1 NA19079.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0034 a0002c0002t0049 others(1): Show a0002c0002t0017 a0002c0002t0034 a0002c0002t0049 a0002c0002t0054	a0002c0002t0017g0021 a0002c0002t0017g0081 a0002c0002t0034g0021 others(2): Show a0002c0002t0017g0021 a0002c0002t0017g0081 a0002c0002t0034g0021 a0002c0002t0049g0082 a0002c0002t0054g0103	6	402	0.0149	-40	c.142 others(57): Show c.1422+267_1422+306delGCCGCCTGGGGCTGGGAGGGGCCGCCTG GGGCTGGGAGGG		TNFAIP2	ENSG00000185215.11	transcript	ENST00000560869.6	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
TNFRSF1B_chr1_12161991_12214220	12183728	TCTATCTA others(33): Show TCTATCTATCTATCTATCTATCTAGCTAGCTAGCTAGCTAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01952.hp1 HG02004.hp2 others(1): Show HG00140.hp1 HG01952.hp1 HG02004.hp2 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0146 a0002c0002t0002g0030 a0002c0002t0002g0163 others(1): Show a0002c0002t0001g0146 a0002c0002t0002g0030 a0002c0002t0002g0163 a0002c0002t0003g0334	4	362	0.0111	-40	c.79- others(55): Show c.79-5059_79-5020delCTATCTATCTATCTAGCTAGCTAGCTAGCT AGCTATCTAT		TNFRSF1B	ENSG00000028137.19	transcript	ENST00000376259.7	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
TNIP1_chr5_151024945_151086034	151059802	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG03516.hp2 HG02486.hp2 HG02922.hp1 HG03516.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0019 a0001c0001 a0015c0019	a0001c0001t0001 a0015c0019t0008 a0001c0001t0001 a0015c0019t0008	a0001c0001t0001g0098 a0001c0001t0001g0330 a0015c0019t0008g0331 a0001c0001t0001g0098 a0001c0001t0001g0330 a0015c0019t0008g0331	3	402	0.0075	-40	c.435 others(55): Show c.435+476_435+515delACACACACACACACTCTCTCTCTCTCTCTC TCTCTCTCTC		TNIP1	ENSG00000145901.16	transcript	ENST00000521591.6	protein_coding	5/17						chr5	TogoVar
TNNI3_chr19_55146767_55162732	55154913	CGGGGCCT others(33): Show CGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	388	0.0026	-40	c.283 others(54): Show c.283-123_283-84delCAGCCCCTTCTCCTCCCTCAGACCCAGGAGT CCAGGCCCC		TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding	5/7						chr19	TogoVar
TNR_chr1_175310194_175748595	175547581	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0040 a0003c0001t0040	a0003c0001t0040g0041 a0003c0001t0040g0041	1	132	0.0076	-40	c.-16 others(61): Show c.-164-19252_-164-19213delGTTTCTTTGTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT		TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22						chr1	TogoVar
TOGARAM1_chr14_44957190_45079431	45045559	ATATATAT others(33): Show ATATATATATATATATATATATATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG02615.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0137 a0001c0001t0004g0084 a0001c0001t0004g0137	2	178	0.0112	-40	c.415 others(57): Show c.4154+691_4154+730delATATATATATATATATATATATATGTGT GTGTGTGTGTGT		TOGARAM1	ENSG00000198718.13	transcript	ENST00000361462.7	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr14	TogoVar
TOP3A_chr17_18266428_18319994	18298152	ACCCCGTC others(33): Show ACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAACCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	388	0.0026	-40	c.990 others(57): Show c.990+1367_990+1406delCGGTTGCCGGGCGGAGGGGCTCCTCACT TCTCAGACGGGG		TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	9/18						chr17	TogoVar
TOX2_chr20_43909852_44074616	44053501	CATATATA others(33): Show CATATATATACTATATATACACATATATATACATATATACT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	288	0.0035	-40	c.652 others(55): Show c.652-787_652-748delTATATATACACATATATATACATATATACT ATATATATAC		TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
TP73_chr1_3647516_3741201	3732989	CGAGTGGG others(33): Show CGAGTGGGCGGACTTCGGCTTCGACCTGCCCGACTGCAAGG	C C	frameshift_variant frameshift_variant	HIGH	HG01168.hp1 HG01168.hp1	a0000 a0000	a0000c0023 a0000c0023	a0000c0023t0055 a0000c0023t0055	a0000c0023t0055g0326 a0000c0023t0055g0326	1	358	0.0028	-40	c.182 others(49): Show c.1822_1861delGAGTGGGCGGACTTCGGCTTCGACCTGCCCGACTGC AAGG	p.Glu others(5): Show p.Glu608fs	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	14/14	1981/5192	1822/1911	608/636			chr1	TogoVar
TPCN2_chr11_69043932_69095597	69064959	AGTGTCTG others(33): Show AGTGTCTGTGCATGGTGTCTGTATGTCTGTGTGCGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0108 a0003c0003t0002g0108	1	404	0.0025	-40	c.726 others(57): Show c.726+1002_726+1041delCATGGTGTCTGTATGTCTGTGTGCGTGT GTGGTGTCTGTG		TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	7/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
TPD52L1_chr6_125148773_125269407	125172121	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	320	0.0031	-40	c.19+ others(57): Show c.19+18154_19+18193delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTT		TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125172125	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG02280.hp2 others(4): Show HG00733.hp2 HG01243.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0098 a0001c0001t0002g0101 a0001c0001t0002g0104 others(4): Show a0001c0001t0001g0098 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0213 a0001c0005t0001g0215 a0002c0003t0001g0093 a0002c0003t0001g0107	7	320	0.0219	-40	c.19+ others(57): Show c.19+18158_19+18197delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTT		TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125172129	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	320	0.0031	-40	c.19+ others(57): Show c.19+18162_19+18201delCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTT		TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125260983	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240	3	320	0.0094	-40	c.487 others(57): Show c.487-1848_487-1809delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGAA		TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L2_chr20_63860270_63896538	63879740	AGGCACAA others(33): Show AGGCACAAATGCAGGTGCAGCTTTCCCATCCCCACTCTTAG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	368	0.0027	-40	c.375 others(57): Show c.375-2916_375-2877delTCCCATCCCCACTCTTAGGGCACAAATG CAGGTGCAGCTT		TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
TPD52L2_chr20_63860270_63896538	63880300	AGGCACAA others(33): Show AGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	368	0.0027	-40	c.375 others(57): Show c.375-2380_375-2341delAGGGCACAAATGCAGGTGCAGCTTCCCC ATCCCCACTCTT		TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
TPD52L2_chr20_63860270_63896538	63880380	AGGCACAA others(33): Show AGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0299 a0002c0002t0004g0299	1	368	0.0027	-40	c.375 others(57): Show c.375-2300_375-2261delAGGGCACAAATGCAGGTGCAGCTTCCCC ATCCCCACTCTT		TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
TPP2_chr13_102591986_102684958	102652397	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	366	0.0027	-40	c.299 others(59): Show c.2991+1018_2991+1057delTATATATATATATATATATATATATA TATATATATATATA		TPP2	ENSG00000134900.13	transcript	ENST00000376052.5	protein_coding	24/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
TRAF3IP3_chr1_209751053_209787310	209770899	AAGGTGTG others(33): Show AAGGTGTGCGTGTGCAGGTGAAGGTGTGCGTGTGCAGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0001	a0009c0023t0001g0243 a0009c0023t0001g0243	1	444	0.0023	-40	c.703 others(57): Show c.703-2033_703-1994delGGTGAAGGTGTGCGTGTGCAGGTGGAGG TGTGCGTGTGCA		TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAF7_chr16_2150782_2183129	2178786	ACGCCCAT others(33): Show ACGCCCATCTCTGCCGAGCCCCGCCCATCTCTGCCGAGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG03688.hp1 others(1): Show HG02717.hp2 HG03098.hp2 HG03688.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0007t0020	a0001c0001t0001g0024 a0001c0001t0008g0219 a0001c0001t0014g0046 others(1): Show a0001c0001t0001g0024 a0001c0001t0008g0219 a0001c0001t0014g0046 a0001c0007t0020g0248	4	320	0.0125	-40	c.22 others(51): Show c.2213_*2252delCGCCCATCTCTGCCGAGCCCCGCCCATCTCTGCC GAGCCC		TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding					658		chr16	TogoVar
TRANK1_chr3_36821819_36950054	36918498	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01074.hp2 others(2): Show HG00099.hp2 HG00673.hp2 HG01074.hp2 HG02976.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0258 a0001c0001t0002g0234 a0001c0001t0002g0286 others(2): Show a0001c0001t0001g0258 a0001c0001t0002g0234 a0001c0001t0002g0286 a0002c0002t0002g0103 a0002c0002t0002g0104	5	330	0.0152	-40	c.24- others(57): Show c.24-10084_24-10045delCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC		TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	1/23						chr3	TogoVar
TRANK1_chr3_36821819_36950054	36918502	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(13): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG01256.hp2 HG01496.hp1 HG01934.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 NA18967.hp1 NA18980.hp2 NA18983.hp2 NA19001.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0002c0018 a0008c0020	a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 a0002c0002t0001 a0002c0002t0002 a0002c0018t0002 a0008c0020t0002	a0001c0001t0001g0190 a0001c0001t0002g0261 a0001c0009t0002g0210 others(13): Show a0001c0001t0001g0190 a0001c0001t0002g0261 a0001c0009t0002g0210 a0001c0009t0002g0246 a0002c0002t0001g0090 a0002c0002t0001g0260 a0002c0002t0002g0031 a0002c0002t0002g0070 a0002c0002t0002g0174 a0002c0002t0002g0217 a0002c0002t0002g0257 a0002c0002t0002g0275 a0002c0002t0002g0289 a0002c0002t0002g0295 a0002c0018t0002g0068 a0008c0020t0002g0300	16	330	0.0485	-40	c.24- others(57): Show c.24-10088_24-10049delCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC		TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	1/23						chr3	TogoVar
TRANK1_chr3_36821819_36950054	36918506	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	330	0.0030	-40	c.24- others(57): Show c.24-10092_24-10053delCTTCCTTCCTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTC		TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	1/23						chr3	TogoVar
TRAPPC2L_chr16_88852127_88867678	88859821	TGCTGAGA others(33): Show TGCTGAGAAACTAAAAATCTGGCAGTGGCTGTGTGTATGTG	T T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0041 a0001c0002t0028g0041	1	450	0.0022	-40	c.295 others(53): Show c.295-69_295-30delTGAGAAACTAAAAATCTGGCAGTGGCTGTGTG TATGTGGC		TRAPPC2L	ENSG00000167515.11	transcript	ENST00000696289.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
TRAPPC8_chr18_31824197_31948128	31887741	AACCAGCA others(33): Show AACCAGCACAAGACAAGGATGCCCTCTCTCATCACTGCTAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp2 NA19240.hp1 HG02145.hp2 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0173	3	350	0.0086	-40	c.172 others(59): Show c.1728+2954_1728+2993delATAGCAGTGATGAGAGAGGGCATCCT TGTCTTGTGCTGGT		TRAPPC8	ENSG00000153339.15	transcript	ENST00000283351.10	protein_coding	12/28						chr18	TogoVar
TRAPPC8_chr18_31824197_31948128	31934831	TACTCCAG others(33): Show TACTCCAGCCTGGGCAATGAGAGCTGAGATCACACTACTGC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0145 a0002c0003t0002g0145	1	350	0.0029	-40	c.158 others(57): Show c.158-3348_158-3309delGCAGTAGTGTGATCTCAGCTCTCATTGC CCAGGCTGGAGT		TRAPPC8	ENSG00000153339.15	transcript	ENST00000283351.10	protein_coding	1/28						chr18	TogoVar
TRAPPC9_chr8_139722725_140462744	140129649	GATGGTGA others(33): Show GATGGTGAGAGCCAGCTTTCTCCCCGAGAGAAAAGGAAGTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG03195.hp1 HG02109.hp1 HG02717.hp2 HG03195.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0015 a0004c0021 a0001c0002 a0001c0015 a0004c0021	a0001c0002t0023 a0001c0015t0032 a0004c0021t0002 a0001c0002t0023 a0001c0015t0032 a0004c0021t0002	a0001c0002t0023g0015 a0001c0015t0032g0066 a0004c0021t0002g0033 a0001c0002t0023g0015 a0001c0015t0032g0066 a0004c0021t0002g0033	3	98	0.0306	-40	c.255 others(61): Show c.2556+91770_2556+91809delAACTTCCTTTTCTCTCGGGGAGAA AGCTGGCTCTCACCAT		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22						chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157065	TTTCCATT others(33): Show TTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG00738.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0004t0001 a0001c0001t0009 a0001c0004t0001	a0001c0001t0009g0072 a0001c0004t0001g0086 a0001c0001t0009g0072 a0001c0004t0001g0086	2	98	0.0204	-40	c.255 others(61): Show c.2556+64354_2556+64393delGGGAGGCTTCTGAATGGAAAAGGG AGGCTTTTGAATGGAA		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22						chr8	TogoVar
TREX1_chr3_48461230_48472645	48468965	AGGACACA others(33): Show AGGACACACACAGCACACATGGGGCGTAAGGAACCGTGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	-40	c.13 others(51): Show c.1366_*1405delGGACACACACAGCACACATGGGGCGTAAGGAACC GTGCCT		TREX1	ENSG00000213689.14	transcript	ENST00000625293.3	protein_coding					1321		chr3	TogoVar

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Search Results (Total: 3176 hits)