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
TCF3_chr19_1604292_1657615	1628048	A A	ACGGGGTG others(24): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp2 HG01109.hp2 HG03471.hp2	a0004 a0005 a0004 a0005	a0004c0033 a0005c0010 a0004c0033 a0005c0010	a0004c0033t0036 a0005c0010t0018 a0004c0033t0036 a0005c0010t0018	a0004c0033t0036g0350 a0005c0010t0018g0169 a0004c0033t0036g0350 a0005c0010t0018g0169	2	352	0.0057	31	c.299 others(46): Show c.299-623_299-622insAGCTCTGCTGTCCCCTTCCCGCCTCACCCC G		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628218	A A	ACGGGGTG others(24): Show ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0076 a0001c0003t0076	a0001c0003t0076g0045 a0001c0003t0076g0045	1	352	0.0028	31	c.299 others(46): Show c.299-793_299-792insAGCTCTGCTGTCCCCTTCCCACCTCACCCC G		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628320	A A	ACGGGGTA others(24): Show ACGGGGTAAGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19064.hp1 HG02083.hp2 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0029 a0001c0002 a0001c0029	a0001c0002t0005 a0001c0029t0002 a0001c0002t0005 a0001c0029t0002	a0001c0002t0005g0322 a0001c0029t0002g0162 a0001c0002t0005g0322 a0001c0029t0002g0162	2	352	0.0057	31	c.299 others(46): Show c.299-895_299-894insAGCTCTGCTGTCCCCTTCCCGCCTTACCCC G		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628355	A A	ACGGGGTG others(24): Show ACGGGGTGGGGCGGAAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0101 a0003c0008t0101	a0003c0008t0101g0346 a0003c0008t0101g0346	1	352	0.0028	31	c.299 others(46): Show c.299-930_299-929insAGTTCTGCTGTCCCCTTTCCGCCCCACCCC G		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628423	A A	ACGGGGTG others(24): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18970.hp2 NA19080.hp1 HG01081.hp1 NA18970.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0265 a0001c0002t0002g0214 a0001c0002t0002g0264 a0001c0002t0001g0265 a0001c0002t0002g0214 a0001c0002t0002g0264	3	352	0.0085	31	c.299 others(46): Show c.299-998_299-997insAGTTCTGCTGTCCCCTTCCCGCCTCACCCC G		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628458	A A	ACGGGGTG others(24): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0026 a0001c0019t0026	a0001c0019t0026g0035 a0001c0019t0026g0035	1	352	0.0028	31	c.299 others(48): Show c.299-1033_299-1032insAGTTCTGCTGTCCCCTTCCCGCCTCACC CCG		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628458	A A	ACGGGGTG others(24): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	352	0.0028	31	c.299 others(48): Show c.299-1033_299-1032insAGCTCTGCTGTCCCCTTCCCGCCTCACC CCG		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628493	A A	ACGGGGTG others(24): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0081 a0002c0001t0015g0081	1	352	0.0028	31	c.299 others(48): Show c.299-1068_299-1067insAGTTCTGCTGTCCCCTTCCCGCCTCACC CCG		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628493	A A	ACGGGGTG others(24): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0072 a0015c0024t0072	a0015c0024t0072g0179 a0015c0024t0072g0179	1	352	0.0028	31	c.299 others(48): Show c.299-1068_299-1067insAGCTCTGCTGTCCCCTTCCCGCCTCACC CCG		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF3_chr19_1604292_1657615	1628734	A A	ACGGGGTG others(24): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02622.hp1 HG01934.hp2 HG02622.hp1	a0001 a0012 a0001 a0012	a0001c0005 a0012c0030 a0001c0005 a0012c0030	a0001c0005t0026 a0012c0030t0002 a0001c0005t0026 a0012c0030t0002	a0001c0005t0026g0037 a0012c0030t0002g0163 a0001c0005t0026g0037 a0012c0030t0002g0163	2	352	0.0057	31	c.299 others(48): Show c.299-1309_299-1308insAGCTCTGCTGTCCCCTTCCCGCCTCACC CCG		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TCF7L1_chr2_85128392_85315387	85153340	A A	ATATTTTT others(24): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0006 a0002c0002t0007g0006	1	236	0.0042	31	c.441 others(50): Show c.441+18891_441+18892insATTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF7L2_chr10_112945247_113172678	112966209	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0185 a0001c0001t0010g0185	1	200	0.0050	31	c.450 others(48): Show c.450+1587_450+1588insATATATATATATATATATATATATATAT AAT		TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
TCHH_chr1_152101317_152120444	152112103	T T	TCAGCTGC others(24): Show TCAGCTGCTGCTCGCGCCTCAGCTGCTGCTCG	frameshift_variant frameshift_variant	HIGH	NA20300.hp2 NA20300.hp2	a0130 a0130	a0130c0087 a0130c0087	a0130c0087t0002 a0130c0087t0002	a0130c0087t0002g0073 a0130c0087t0002g0073	1	402	0.0025	31	c.111 others(40): Show c.1113_1114insCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTG	p.Arg others(5): Show p.Arg373fs	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	1198/6985	1113/5832	371/1943			chr1	TogoVar
TCTN1_chr12_110609129_110654430	110641387	C C	CTTACTGT others(24): Show CTTACTGTACTGACTGTACTCTGCCCTACTTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	284	0.0035	31	c.110 others(48): Show c.1105-155_1105-154insTTACTGTACTGACTGTACTCTGCCCTAC TTG		TCTN1	ENSG00000204852.17	transcript	ENST00000397659.9	protein_coding	9/14						chr12	TogoVar
TDRD9_chr14_103923456_104057667	103968795	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01516.hp1 NA18969.hp1 others(1): Show HG01515.hp1 HG01516.hp1 NA18969.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0148 a0001c0001t0001g0301 a0001c0001t0001g0310 others(1): Show a0001c0001t0001g0148 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0004g0305	4	372	0.0108	31	c.766 others(48): Show c.766-1737_766-1736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	5/35					INFO_REALIGN_3_PRIME	chr14	TogoVar
TDRKH_chr1_151768494_151795500	151781326	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0153 a0001c0001t0008g0153	1	418	0.0024	31	c.231 others(46): Show c.231+154_231+155insATATATATATATATATATATATATATATAT A		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12						chr1	TogoVar
TDRKH_chr1_151768494_151795500	151791535	C C	CAACAGGG others(24): Show CAACAGGGGATACCGGAGAGAGCTACTGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	418	0.0024	31	c.-11 others(42): Show c.-1184_-1183insTGTGCAGTAGCTCTCTCCGGTATCCCCTGTT		TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding					1036		chr1	TogoVar
TEAD1_chr11_12669421_12949737	12837779	C C	CTCTTCTT others(24): Show CTCTTCTTCTTCCTTCTCTTCCTCTTCTTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0012 a0001c0002t0016g0012	1	206	0.0049	31	c.203 others(50): Show c.203-24463_203-24462insTTCCTTCTCTTCCTCTTCTTCCTTCT TCTTC		TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12					WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEAD1_chr11_12669421_12949737	12840246	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	206	0.0049	31	c.203 others(50): Show c.203-21988_203-21987insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		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	35486494	T T	TCCGCCGG others(24): Show TCCGCCGGCCGCAGGGCGGGTAGATGGCCAGG	frameshift_variant frameshift_variant	HIGH	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0220 a0002c0010t0003g0220	1	396	0.0025	31	c.138 others(38): Show c.138_168dupCCTGGCCATCTACCCGCCCTGCGGCCGGCGG	p.Lys others(4): Show p.Lys57fs	TEAD3	ENSG00000007866.22	transcript	ENST00000338863.13	protein_coding	2/13	399/2986	168/1308	56/435		WARNING_TRANSCRIPT_NO_START_CODON	chr6	TogoVar
TECPR1_chr7_98209624_98257232	98235849	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0136 a0001c0001t0088g0136	1	346	0.0029	31	c.118 others(48): Show c.1181+926_1181+927insGTTGTTTTTTTTTTTTTTTTTTTTTTTT TTT		TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	10/25						chr7	TogoVar
TECPR2_chr14_102357941_102507477	102432298	T T	TACACACA others(24): Show TACACACACACACACACACACACAACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19043.hp2 HG00639.hp1 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0043 a0004c0004t0044 a0004c0004t0043 a0004c0004t0044	a0004c0004t0043g0160 a0004c0004t0044g0159 a0004c0004t0043g0160 a0004c0004t0044g0159	2	334	0.0060	31	c.141 others(48): Show c.1417+193_1417+194insACACACACACACACACACACACACACAC ACA		TECPR2	ENSG00000196663.16	transcript	ENST00000359520.12	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr14	TogoVar
TECRL_chr4_64272702_64414450	64374052	C C	CATATATA others(24): Show CATATATATATATATAGTAGATACATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG01069.hp2 others(27): Show HG00609.hp2 HG00639.hp2 HG01069.hp2 HG01071.hp1 HG01346.hp2 HG01496.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02083.hp2 HG02148.hp1 HG02293.hp2 HG02451.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03942.hp1 NA18939.hp1 NA18949.hp2 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18969.hp2 NA18986.hp2 NA18995.hp2 NA19007.hp2 NA19056.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0031 others(27): Show a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0248 a0001c0001t0002g0012 a0001c0001t0012g0035 a0001c0001t0012g0036 a0001c0001t0013g0023 a0001c0001t0013g0024 a0001c0001t0022g0041 a0001c0001t0023g0025 a0001c0001t0024g0027 a0001c0004t0001g0270	30	272	0.1103	31	c.286 others(48): Show c.286+1119_286+1120insATATATATGTATCTACTATATATATATA TAT		TECRL	ENSG00000205678.8	transcript	ENST00000381210.8	protein_coding	2/11						chr4	TogoVar
TECRL_chr4_64272702_64414450	64374052	C C	CATATATA others(24): Show CATATATATATATATATAGTAGATACATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	272	0.0037	31	c.286 others(48): Show c.286+1119_286+1120insATATATGTATCTACTATATATATATATA TAT		TECRL	ENSG00000205678.8	transcript	ENST00000381210.8	protein_coding	2/11						chr4	TogoVar
TECTA_chr11_121096243_121196490	121185604	G G	GAATGAGT others(24): Show GAATGAGTAGGGAAAGCAGATGTTCAATGCTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0009 a0001c0033t0009	a0001c0033t0009g0310 a0001c0033t0009g0310	1	348	0.0029	31	c.600 others(50): Show c.6000-2222_6000-2192dupGTAGGGAAAGCAGATGTTCAATGCTT AATGA		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185628	C C	CAATGCTT others(24): Show CAATGCTTAATGAGTAGGGAAAGCAGATGTTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0033 a0033	a0033c0063 a0033c0063	a0033c0063t0002 a0033c0063t0002	a0033c0063t0002g0026 a0033c0063t0002g0026	1	348	0.0029	31	c.600 others(50): Show c.6000-2192_6000-2191insGTAGGGAAAGCAGATGTTGAATGCTT AATGA		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185956	G G	GAATGAGT others(24): Show GAATGAGTAGGGAAAGCAGATGTTCAATGCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01243.hp1 others(3): Show HG00140.hp1 HG01070.hp1 HG01243.hp1 HG01358.hp2 HG01884.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0001c0005 a0002c0001	a0001c0005t0001 a0002c0001t0001 a0001c0005t0001 a0002c0001t0001	a0001c0005t0001g0268 a0002c0001t0001g0215 a0002c0001t0001g0234 others(3): Show a0001c0005t0001g0268 a0002c0001t0001g0215 a0002c0001t0001g0234 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0260	6	348	0.0172	31	c.600 others(50): Show c.6000-1853_6000-1852insCAATGCTTAATGAGTAGGGAAAGCAG ATGTT		TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
TENM1_chrX_124370903_125209312	124471161	A A	ATATATAA others(24): Show ATATATAATATATAGTACTATATAATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03490.hp1 HG04204.hp1 HG01099.hp1 HG03490.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0030 a0001c0002 a0001c0030	a0001c0002t0003 a0001c0002t0018 a0001c0030t0002 a0001c0002t0003 a0001c0002t0018 a0001c0030t0002	a0001c0002t0003g0050 a0001c0002t0018g0004 a0001c0030t0002g0051 a0001c0002t0003g0050 a0001c0002t0018g0004 a0001c0030t0002g0051	3	140	0.0214	31	c.394 others(52): Show c.3949+10540_3949+10570dupATATATATTATATAGTACTATATA TTATATA		TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	25/34						chrX	TogoVar
TENM2_chr5_166974029_168269157	167351010	G G	GATATATA others(24): Show GATATATATATATATGGGATATATACATATGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0034 a0001c0005t0005g0034	1	54	0.0185	31	c.227 others(50): Show c.227-24176_227-24175insATGGGATATATACATATGGATATATA TATAT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	3/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167351010	G G	GATATATA others(24): Show GATATATATATGGGATATATACATATGGATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02970.hp2 others(1): Show HG02055.hp1 HG02451.hp2 HG02970.hp2 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0016 a0001c0021 a0001c0025 others(1): Show a0001c0016 a0001c0021 a0001c0025 a0004c0009	a0001c0016t0015 a0001c0021t0020 a0001c0025t0002 others(1): Show a0001c0016t0015 a0001c0021t0020 a0001c0025t0002 a0004c0009t0003	a0001c0016t0015g0047 a0001c0021t0020g0021 a0001c0025t0002g0052 others(1): Show a0001c0016t0015g0047 a0001c0021t0020g0021 a0001c0025t0002g0052 a0004c0009t0003g0027	4	54	0.0741	31	c.227 others(50): Show c.227-24178_227-24177insGGGATATATACATATGGATATATATA TATAT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	3/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167452948	T T	TATATATA others(24): Show TATATATATATATATATATATATATATTTTAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02630.hp2 others(4): Show HG02055.hp1 HG02451.hp1 HG02630.hp2 HG02970.hp1 HG03209.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0025 a0001c0030 a0002c0024	a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 a0001c0004t0009 a0001c0025t0002 a0001c0030t0026 a0002c0024t0014	a0001c0001t0001g0045 a0001c0002t0002g0032 a0001c0002t0013g0041 others(4): Show a0001c0001t0001g0045 a0001c0002t0002g0032 a0001c0002t0013g0041 a0001c0004t0009g0025 a0001c0025t0002g0052 a0001c0030t0026g0014 a0002c0024t0014g0048	7	54	0.1296	31	c.502 others(50): Show c.502+77489_502+77490insATATATATATATTTTAAATATATATA TATAT		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167791423	A A	AATATATT others(24): Show AATATATTATATATTTATATATAATATATTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA21309.hp2 HG01891.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0009 a0001c0012t0023 a0001c0004t0009 a0001c0012t0023	a0001c0004t0009g0025 a0001c0012t0023g0016 a0001c0004t0009g0025 a0001c0012t0023g0016	2	54	0.0370	31	c.503 others(50): Show c.503-84559_503-84529dupTATTATATATTTATATATAATATATT ATATA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM2_chr5_166974029_168269157	167853289	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0028 a0001c0006t0004g0028	1	54	0.0185	31	c.503 others(50): Show c.503-22674_503-22673insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM3_chr4_182238402_182808024	182432865	T T	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0023 a0001c0030t0001g0023	1	140	0.0071	31	c.511 others(50): Show c.511+85936_511+85937insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTG		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27						chr4	TogoVar
TENM3_chr4_182238402_182808024	182449227	C C	CGGCGGCG others(24): Show CGGCGGCGGCTCCGCTCCGCTCCGGAGCCGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18906.hp2 HG02258.hp2 NA18906.hp2	a0001 a0001	a0001c0007 a0001c0021 a0001c0007 a0001c0021	a0001c0007t0004 a0001c0021t0013 a0001c0007t0004 a0001c0021t0013	a0001c0007t0004g0113 a0001c0021t0013g0108 a0001c0007t0004g0113 a0001c0021t0013g0108	2	140	0.0143	31	c.511 others(52): Show c.511+102301_511+102302insGGCGGCTCCGCTCCGCTCCGGAGC CGGTGGC		TENM3	ENSG00000218336.9	transcript	ENST00000511685.6	protein_coding	3/27					INFO_REALIGN_3_PRIME	chr4	TogoVar
TENM4_chr11_78647829_79446030	78763931	C C	CAAGTCCT others(24): Show CAAGTCCTCTGCTGGCCACGTGGCCCTTCTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01081.hp1 others(40): Show HG00639.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01978.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19009.hp2 NA19043.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(25): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0011 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0028 a0001c0030 a0001c0035 a0001c0036 a0001c0037 a0001c0039 a0001c0040 a0001c0046 a0002c0017 a0002c0018 a0002c0019 a0003c0010 a0004c0026 a0006c0009 a0008c0015 a0009c0016 a0010c0029 a0011c0033	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(38): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0026 a0001c0001t0040 a0001c0001t0048 a0001c0001t0057 a0001c0002t0045 a0001c0004t0017 a0001c0004t0028 a0001c0004t0063 a0001c0006t0005 a0001c0006t0014 a0001c0011t0036 a0001c0011t0047 a0001c0020t0001 a0001c0022t0033 a0001c0023t0061 a0001c0024t0019 a0001c0025t0006 a0001c0028t0060 a0001c0030t0051 a0001c0035t0034 a0001c0036t0007 a0001c0037t0039 a0001c0039t0046 a0001c0040t0009 a0001c0046t0058 a0002c0017t0012 a0002c0018t0010 a0002c0019t0025 a0003c0010t0009 a0003c0010t0011 a0004c0026t0053 a0006c0009t0031 a0006c0009t0054 a0008c0015t0016 a0009c0016t0021 a0010c0029t0011 a0011c0033t0037	a0001c0001t0001g0022 a0001c0001t0008g0013 a0001c0001t0013g0060 others(40): Show a0001c0001t0001g0022 a0001c0001t0008g0013 a0001c0001t0013g0060 a0001c0001t0015g0076 a0001c0001t0015g0086 a0001c0001t0026g0011 a0001c0001t0040g0046 a0001c0001t0048g0075 a0001c0001t0057g0081 a0001c0002t0045g0059 a0001c0004t0017g0079 a0001c0004t0028g0010 a0001c0004t0063g0091 a0001c0006t0005g0023 a0001c0006t0005g0037 a0001c0006t0014g0049 a0001c0011t0036g0045 a0001c0011t0047g0066 a0001c0020t0001g0031 a0001c0022t0033g0034 a0001c0023t0061g0080 a0001c0024t0019g0001 a0001c0025t0006g0053 a0001c0028t0060g0087 a0001c0030t0051g0052 a0001c0035t0034g0026 a0001c0036t0007g0074 a0001c0037t0039g0019 a0001c0039t0046g0057 a0001c0040t0009g0016 a0001c0046t0058g0088 a0002c0017t0012g0062 a0002c0018t0010g0030 a0002c0019t0025g0008 a0003c0010t0009g0024 a0003c0010t0011g0017 a0004c0026t0053g0050 a0006c0009t0031g0021 a0006c0009t0054g0083 a0008c0015t0016g0084 a0009c0016t0021g0006 a0010c0029t0011g0040 a0011c0033t0037g0039	43	94	0.4575	31	c.254 others(50): Show c.2540-6911_2540-6910insAAAGAAGGGCCACGTGGCCAGCAGAG GACTT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	18/33						chr11	TogoVar
TENT2_chr5_79607441_79693246	79659553	A A	AAATGTAT others(24): Show AAATGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	344	0.0029	31	c.107 others(50): Show c.1071+2553_1071+2554insATGTATATATATATATATATATATAT ATATA		TENT2	ENSG00000164329.15	transcript	ENST00000453514.6	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
TENT5A_chr6_81740730_81757681	81741178	A A	ATATTATA others(24): Show ATATTATATATAATGTGTATCATGTTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	446	0.0022	31	c.85 others(42): Show c.8516_*8517insATATATAACATGATACACATTATATATAATA		TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding					4551		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81741179	T T	TATTATAT others(24): Show TATTATATATAATGTGTATCATGTTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19082.hp1 NA19063.hp2 NA19082.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	2	446	0.0045	31	c.85 others(42): Show c.8515_*8516insAATATATAACATGATACACATTATATATAAT		TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding					4550		chr6	TogoVar
TERF1_chr8_73003864_73053123	73052724	A A	ATTTGTCT others(24): Show ATTTGTCTGATAGTTCTTATTTCTACCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	342	0.0029	31	c.65 others(42): Show c.6587_*6588insTTTGTCTGATAGTTCTTATTTCTACCCTCTT		TERF1	ENSG00000147601.15	transcript	ENST00000276603.10	protein_coding					4602		chr8	TogoVar
TERT_chr5_1248167_1300068	1252388	C C	CAGATGAG others(24): Show CAGATGAGACTGGGAGATGATAAGAGGATGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0384 a0001c0024t0001g0384	1	392	0.0026	31	c.13 others(42): Show c.1339_*1340insCTCATCCTCTTATCATCTCCCAGTCTCATCT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding					778		chr5	TogoVar
TERT_chr5_1248167_1300068	1272715	A A	ACACATCA others(24): Show ACACATCAGACCCCACGACCGCCATCCACAGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	392	0.0026	31	c.228 others(48): Show c.2287-466_2287-436dupACTGTGGATGGCGGTCGTGGGGTCTGAT GTG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1272907	G G	GACCGCCA others(24): Show GACCGCCATCCACAGTCACATCAGACCCCACA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	392	0.0026	31	c.228 others(48): Show c.2287-628_2287-627insTGTGGGGTCTGATGTGACTGTGGATGGC GGT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273309	C C	CACGACCG others(24): Show CACGACCGCCATCCACAGTCACATCAGACCCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	392	0.0026	31	c.228 others(50): Show c.2287-1030_2287-1029insAGGGTCTGATGTGACTGTGGATGGCG GTCGT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273461	T T	TCGCCATC others(24): Show TCGCCATCCACAGTCACATCAGACCCCACGAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0376 a0001c0001t0001g0376	1	392	0.0026	31	c.228 others(50): Show c.2287-1182_2287-1181insGTCGTGGGGTCTGATGTGACTGTGGA TGGCG		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TERT_chr5_1248167_1300068	1273749	G G	GACCGCCA others(24): Show GACCGCCATCCACAGTCACATCAGACCCCACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	392	0.0026	31	c.228 others(50): Show c.2287-1470_2287-1469insTGTGGGGTCTGATGTGACTGTGGATG GCGGT		TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15						chr5	TogoVar
TET2_chr4_105141876_105284803	105278203	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0023 a0001c0001t0076g0023	1	348	0.0029	31	c.16 others(42): Show c.1684_*1685insATATATATATATATATATATATATATATATA		TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	11/11				1685		chr4	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0014	1	229	0.0044	31	c.252 others(50): Show c.2521-9040_2521-9039insATATATATATATATATATATATATAT ATATA		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29						chrX	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03516.hp1 HG01109.hp1 HG03516.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0001 a0004c0005t0001 a0003c0003t0001 a0004c0005t0001	a0003c0003t0001g0059 a0004c0005t0001g0027 a0003c0003t0001g0059 a0004c0005t0001g0027	2	229	0.0087	31	c.252 others(50): Show c.2521-9040_2521-9039insAAATATATATATATATATATATATAT ATATA		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29						chrX	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02615.hp2 HG02738.hp1 others(3): Show HG02056.hp1 HG02615.hp2 HG02738.hp1 NA18747.hp1 NA19000.hp1 NA19004.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0007 a0001c0001 a0003c0003 a0005c0007	a0001c0001t0001 a0003c0003t0001 a0005c0007t0001 a0001c0001t0001 a0003c0003t0001 a0005c0007t0001	a0001c0001t0001g0160 a0003c0003t0001g0026 a0003c0003t0001g0050 others(3): Show a0001c0001t0001g0160 a0003c0003t0001g0026 a0003c0003t0001g0050 a0003c0003t0001g0086 a0003c0003t0001g0089 a0005c0007t0001g0082	6	229	0.0262	31	c.252 others(50): Show c.2521-9040_2521-9039insAAAAATATATATATATATATATATAT ATATA		TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29						chrX	TogoVar

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Search Results (Total: 5228 hits)