Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRPV3_chr17_3505502_3562812	3519422	T T	TGATTGGA others(16): Show TGATTGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0071 a0003c0071	a0003c0071t0001 a0003c0071t0001	a0003c0071t0001g0096 a0003c0071t0001g0096	1	125	0.0080	23	c.181 others(40): Show c.1811-573_1811-572insTCCATCCATCCATCCATCCAATC	TRPV3	ENSG00000167723.15	transcript	ENST00000576742.6	protein_coding	14/17			chr17	TogoVar
TSBP1_chr6_32287698_32376903	32310761	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0069 a0009c0009t0001g0069	1	323	0.0031	23	c.574 others(40): Show c.574+5010_574+5011insAAAAATATATATATATATATATA	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	22/25			chr6	TogoVar
TSC1_chr9_132886349_132949616	132908901	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18966.hp2 NA19006.hp1 others(1): Show HG02451.hp1 NA18966.hp2 NA19006.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0012 a0002c0002t0070 a0002c0002t0003 a0002c0002t0012 a0002c0002t0070	a0002c0002t0003g0251 a0002c0002t0012g0266 a0002c0002t0012g0267 others(1): Show a0002c0002t0003g0251 a0002c0002t0012g0266 a0002c0002t0012g0267 a0002c0002t0070g0263	4	283	0.0141	23	c.126 others(42): Show c.1264-1532_1264-1531insAAAAAAAAAAAAAAAAAAAAAAA	TSC1	ENSG00000165699.15	transcript	ENST00000298552.9	protein_coding	12/22			chr9	TogoVar
TSC1_chr9_132886349_132949616	132943275	C C	CTTCAGTA others(16): Show CTTCAGTAAACTCATCAGTTTTAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0057 a0002c0002t0057	a0002c0002t0057g0026 a0002c0002t0057g0026	1	334	0.0030	23	c.-14 others(42): Show c.-144+1245_-144+1267dupATAAAACTGATGAGTTTACTGAA	TSC1	ENSG00000165699.15	transcript	ENST00000298552.9	protein_coding	1/22			chr9	TogoVar
TSEN2_chr3_12479480_12538658	12523526	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	111	0.0090	23	c.109 others(42): Show c.1099+4332_1099+4354dupTTTTTTTTTTTTTTTTTTTTTTT	TSEN2	ENSG00000154743.19	transcript	ENST00000284995.11	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TSG101_chr11_18475311_18531942	18499402	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02735.hp1 NA18906.hp1 HG00735.hp1 HG02735.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0078 a0001c0001t0001g0014 a0001c0001t0001g0078	3	29	0.1034	23	c.640 others(40): Show c.640+3083_640+3084insATATATATATATATATATATATA	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18499402	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0077 a0001c0001t0001g0021 a0001c0001t0001g0077	2	28	0.0714	23	c.640 others(40): Show c.640+3083_640+3084insAAATATATATATATATATATATA	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18499402	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19001.hp1 NA19065.hp2 others(2): Show HG03139.hp1 NA19001.hp1 NA19065.hp2 NA19075.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0261 others(2): Show a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0261 a0001c0001t0001g0321 a0001c0001t0001g0329	5	31	0.1613	23	c.640 others(40): Show c.640+3083_640+3084insAAAAAAAAATATATATATATATA	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18499402	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0361 a0001c0001t0001g0361	1	27	0.0370	23	c.640 others(40): Show c.640+3083_640+3084insAAAAAAAAAAATATATATATATA	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSG101_chr11_18475311_18531942	18499403	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03017.hp1 HG02056.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0081 a0001c0001t0001g0026 a0001c0001t0001g0081	2	397	0.0050	23	c.640 others(40): Show c.640+3082_640+3083insTATATATATATATATATATATAT	TSG101	ENSG00000074319.13	transcript	ENST00000251968.4	protein_coding	7/9			chr11	TogoVar
TSHB_chr1_115024826_115039302	115026279	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG02897.hp1 others(3): Show HG00323.hp2 HG01109.hp2 HG02897.hp1 NA18961.hp2 NA19002.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0015	6	28	0.2143	23	c.-35 others(34): Show c.-3583_-3582insTTTTTTTTTTTTTTTTTTTTTTT	TSHB	ENSG00000134200.4	transcript	ENST00000256592.3	protein_coding		3546		chr1	TogoVar
TSHR_chr14_80950621_81151306	80973403	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03098.hp1 HG03704.hp1 others(1): Show HG02523.hp1 HG03098.hp1 HG03704.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0020 a0001c0002t0004 a0001c0001t0002 a0001c0001t0020 a0001c0002t0004	a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0020g0173 others(1): Show a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0020g0173 a0001c0002t0004g0209	4	29	0.1379	23	c.170 others(42): Show c.170+17557_170+17579dupAAAAAAAAAAAAAAAAAAAAAAA	TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
TSHR_chr14_80950621_81151306	80979263	G G	GCATCATG others(16): Show GCATCATGCATATGTGGAGTCTAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01071.hp1 others(69): Show HG00733.hp1 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01891.hp1 HG01928.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02135.hp1 HG02148.hp1 HG02280.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18949.hp2 NA18952.hp1 NA18956.hp2 NA18961.hp2 NA18964.hp2 NA18974.hp2 NA18984.hp2 NA18988.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19076.hp2 NA19084.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 a0002c0005 a0003c0004 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0006t0001 a0001c0008t0005 a0002c0003t0003 a0002c0005t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0004t0005 a0003c0004t0010 a0003c0010t0004	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 others(69): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0003g0074 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0183 a0001c0001t0005g0075 a0001c0001t0005g0248 a0001c0002t0001g0037 a0001c0002t0001g0246 a0001c0002t0002g0027 a0001c0002t0002g0030 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0056 a0001c0002t0004g0024 a0001c0002t0004g0039 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0005g0106 a0001c0002t0005g0252 a0001c0002t0006g0009 a0001c0002t0006g0254 a0001c0002t0008g0253 a0001c0002t0012g0099 a0001c0002t0012g0250 a0001c0006t0001g0249 a0001c0006t0001g0251 a0001c0008t0005g0038 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0011 a0002c0003t0003g0018 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0032 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0005t0003g0051 a0003c0004t0001g0260 a0003c0004t0002g0255 a0003c0004t0002g0264 a0003c0004t0002g0268 a0003c0004t0004g0258 a0003c0004t0004g0263 a0003c0004t0005g0266 a0003c0004t0005g0267 a0003c0004t0010g0259 a0003c0004t0010g0262 a0003c0010t0004g0261	72	268	0.2687	23	c.170 others(42): Show c.170+23437_170+23459dupCATCATGCATATGTGGAGTCTAA	TSHR	ENSG00000165409.18	transcript	ENST00000298171.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
TSHZ2_chr20_52967358_53500330	53246040	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG03486.hp2 HG02630.hp2 HG02886.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0004 a0001c0001 a0001c0009 a0004c0004	a0001c0001t0004 a0001c0009t0036 a0004c0004t0034 a0001c0001t0004 a0001c0009t0036 a0004c0004t0034	a0001c0001t0004g0071 a0001c0009t0036g0029 a0004c0004t0034g0173 a0001c0001t0004g0071 a0001c0009t0036g0029 a0004c0004t0034g0173	3	105	0.0286	23	c.41- others(38): Show c.41-7446_41-7445insTTTTTTTTTTTTTTTTTTTTTTT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142311290	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03041.hp2 HG03098.hp1 others(1): Show HG01109.hp2 HG03041.hp2 HG03098.hp1 NA21309.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0015c0011 a0001c0001 a0002c0002 a0015c0011	a0001c0001t0001 a0001c0001t0006 a0002c0002t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0007 a0015c0011t0002	a0001c0001t0001g0062 a0001c0001t0006g0002 a0002c0002t0007g0223 others(1): Show a0001c0001t0001g0062 a0001c0001t0006g0002 a0002c0002t0007g0223 a0015c0011t0002g0153	4	92	0.0435	23	c.113 others(42): Show c.1131+3071_1131+3093dupAAAAAAAAAAAAAAAAAAAAAAA	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	9/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142398218	A A	ACGCACCC others(16): Show ACGCACCCCCAAACCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG01496.hp2 others(6): Show HG00423.hp2 HG00673.hp2 HG01496.hp2 HG02083.hp1 HG02818.hp1 HG03098.hp2 HG03831.hp1 NA18954.hp1 NA18970.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0007	a0001c0001 a0004c0004 a0005c0009 others(2): Show a0001c0001 a0004c0004 a0005c0009 a0006c0006 a0007c0007	a0001c0001t0002 a0004c0004t0002 a0005c0009t0001 others(4): Show a0001c0001t0002 a0004c0004t0002 a0005c0009t0001 a0005c0009t0002 a0006c0006t0001 a0006c0006t0002 a0007c0007t0002	a0001c0001t0002g0232 a0004c0004t0002g0227 a0005c0009t0001g0233 others(6): Show a0001c0001t0002g0232 a0004c0004t0002g0227 a0005c0009t0001g0233 a0005c0009t0002g0234 a0005c0009t0002g0235 a0006c0006t0001g0231 a0006c0006t0002g0228 a0006c0006t0002g0229 a0007c0007t0002g0230	9	236	0.0381	23	c.-40 others(40): Show c.-40+4863_-40+4885dupCTTTGGGAGGGTTTGGGGGTGCG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TSPAN16_chr19_11291160_11320967	11302660	C C	CATATATA others(16): Show CATATATATATTTTATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	350	0.0029	23	c.450 others(40): Show c.450+1362_450+1363insTTTATATATATATATATATATAT	TSPAN16	ENSG00000130167.14	transcript	ENST00000590327.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
TSPAN1_chr1_46170087_46190962	46182304	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(65): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02523.hp2 HG02572.hp1 HG02717.hp2 HG02818.hp1 HG03017.hp1 HG03130.hp1 HG03490.hp1 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04199.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18952.hp1 NA18953.hp1 NA18963.hp1 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19077.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19089.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(34): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0259 a0002c0003t0001g0169	68	91	0.7473	23	c.57+ others(38): Show c.57+1153_57+1154insAAAAAAAAAAAAAAAAAAAAAAA	TSPAN1	ENSG00000117472.10	transcript	ENST00000372003.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
TSPAN5_chr4_98465367_98663611	98533543	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00673.hp2 others(9): Show HG00621.hp1 HG00621.hp2 HG00673.hp2 HG02129.hp2 HG02559.hp2 NA18612.hp2 NA18975.hp1 NA18979.hp1 NA18984.hp1 NA18998.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0015 a0001c0001t0001 a0001c0002t0015	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0042 others(9): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0200 a0001c0002t0015g0009	12	52	0.2308	23	c.82- others(40): Show c.82-25816_82-25815insAAAAAAAAAAAAAAAAAAAAAAA	TSPAN5	ENSG00000168785.8	transcript	ENST00000305798.8	protein_coding	1/7			chr4	TogoVar
TSPAN5_chr4_98465367_98663611	98533939	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03654.hp1 HG01069.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0181 a0001c0001t0001g0116 a0001c0001t0001g0181	2	39	0.0513	23	c.82- others(40): Show c.82-26234_82-26212dupTTTTTTTTTTTTTTTTTTTTTTT	TSPAN5	ENSG00000168785.8	transcript	ENST00000305798.8	protein_coding	1/7			chr4	TogoVar
TSPAN8_chr12_71120096_71162999	71156250	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	358	0.0028	23	c.60+ others(38): Show c.60+1368_60+1369insTTTTTTTTTTTTTTTTTTTTTTT	TSPAN8	ENSG00000127324.9	transcript	ENST00000247829.8	protein_coding	2/8			chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3220145	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03098.hp1 HG04228.hp1 HG01123.hp1 HG03098.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0027 a0001c0002t0099 a0001c0001t0002 a0001c0001t0027 a0001c0002t0099	a0001c0001t0002g0226 a0001c0001t0027g0054 a0001c0002t0099g0227 a0001c0001t0002g0226 a0001c0001t0027g0054 a0001c0002t0099g0227	3	24	0.1250	23	c.63+ others(40): Show c.63+18903_63+18904insAAAAAAAAAAAAAAAAAAAAAAA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPEAR_chr21_44492893_44716572	44534250	T T	TGTGAGGG others(16): Show TGTGAGGGGTGGGGCTTGTGTGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02896.hp2 others(3): Show HG02486.hp2 HG02647.hp1 HG02896.hp2 HG03098.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0003t0014	a0001c0001t0001g0239 a0001c0001t0003g0222 a0001c0001t0006g0219 others(3): Show a0001c0001t0001g0239 a0001c0001t0003g0222 a0001c0001t0006g0219 a0001c0001t0007g0089 a0001c0003t0001g0218 a0001c0003t0014g0013	6	289	0.0208	23	c.304 others(38): Show c.304-328_304-327insCTCACACAAGCCCCACCCCTCAC	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	2/11			chr21	TogoVar
TSSK2_chr22_19126308_19137622	19134898	T T	TGCTCTGG others(16): Show TGCTCTGGATAGAGGAGCTGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	1	438	0.0023	23	c.24 others(34): Show c.2422_*2423insGCTCTGGATAGAGGAGCTGCCAC	TSSK2	ENSG00000206203.5	transcript	ENST00000399635.4	protein_coding		2277		chr22	TogoVar
TTBK2_chr15_42733730_42925778	42815949	T T	TAAAAATA others(16): Show TAAAAATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	233	0.0043	23	c.603 others(40): Show c.603+1082_603+1083insTAAATATATATATATATATTTTT	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	7/14			chr15	TogoVar
TTBK2_chr15_42733730_42925778	42815956	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19066.hp2 NA19090.hp1 NA18952.hp1 NA19066.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0139 a0001c0001t0003g0150 a0001c0001t0003g0153	3	188	0.0160	23	c.603 others(40): Show c.603+1075_603+1076insATATATATATATATATATATATA	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	7/14			chr15	TogoVar
TTBK2_chr15_42733730_42925778	42815958	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0192 a0001c0001t0002g0196	2	69	0.0290	23	c.603 others(40): Show c.603+1073_603+1074insATATATATATATATATATTTTTT	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	7/14			chr15	TogoVar
TTBK2_chr15_42733730_42925778	42815958	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18990.hp2 NA18984.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0152 a0001c0001t0003g0144 a0001c0001t0003g0152	2	69	0.0290	23	c.603 others(40): Show c.603+1073_603+1074insATATATATATATATATATATATT	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	7/14			chr15	TogoVar
TTBK2_chr15_42733730_42925778	42815958	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18979.hp1 NA18994.hp2 NA18946.hp1 NA18979.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0199 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0199	3	70	0.0429	23	c.603 others(40): Show c.603+1073_603+1074insATATATATATATATATATATATA	TTBK2	ENSG00000128881.18	transcript	ENST00000267890.11	protein_coding	7/14			chr15	TogoVar
TTC1_chr5_160004139_160070543	160066296	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	127	0.0079	23	c.12 others(34): Show c.1231_*1232insTTTTTTTTTTTTTTTTTTTTTTT	TTC1	ENSG00000113312.12	transcript	ENST00000231238.10	protein_coding		754		chr5	TogoVar
TTC23L_chr5_34834164_34905511	34846576	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG03195.hp2 HG02723.hp1 HG03098.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0002g0054 a0002c0002t0002g0351 a0002c0002t0002g0352	3	321	0.0093	23	c.255 others(38): Show c.255+904_255+905insAAAAAAATATATATATATATATA	TTC23L	ENSG00000205838.15	transcript	ENST00000505624.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
TTC23_chr15_99131323_99254581	99148360	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0179 a0001c0001t0022g0179	1	6	0.1667	23	c.114 others(42): Show c.1143+7765_1143+7787dupTTTTTTTTTTTTTTTTTTTTTTT	TTC23	ENSG00000103852.13	transcript	ENST00000394132.7	protein_coding	12/13			chr15	TogoVar
TTC27_chr2_32623050_32826051	32723971	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01175.hp1 others(11): Show HG00438.hp1 HG01106.hp2 HG01175.hp1 HG01978.hp1 HG01993.hp2 HG02895.hp1 HG03579.hp1 NA18939.hp2 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA19009.hp2 NA19030.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0003 a0011c0019 a0001c0001 a0002c0003 a0011c0019	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0011c0019t0002	a0001c0001t0001g0216 a0001c0001t0001g0242 a0002c0003t0001g0155 others(11): Show a0001c0001t0001g0216 a0001c0001t0001g0242 a0002c0003t0001g0155 a0002c0003t0002g0063 a0002c0003t0002g0079 a0002c0003t0002g0145 a0002c0003t0002g0217 a0002c0003t0002g0219 a0002c0003t0002g0221 a0002c0003t0002g0226 a0002c0003t0002g0230 a0002c0003t0002g0231 a0002c0003t0002g0256 a0011c0019t0002g0154	14	169	0.0828	23	c.123 others(42): Show c.1234-9840_1234-9839insTTTTTTTTTTTTTTTTTTTTTTT	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC27_chr2_32623050_32826051	32746563	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	5	0.2000	23	c.145 others(42): Show c.1452+9766_1452+9767insAAAAAAAAAAAAAAAAAAAAAAA	TTC27	ENSG00000018699.13	transcript	ENST00000317907.9	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC28_chr22_27973014_28684840	28043242	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0054 a0001c0008t0054	a0001c0008t0054g0049 a0001c0008t0054g0049	1	19	0.0526	23	c.393 others(44): Show c.3933-12899_3933-12877dupTTTTTTTTTTTTTTTTTTTTTTT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	12/22			chr22	TogoVar
TTC28_chr22_27973014_28684840	28243174	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0184 a0001c0004t0030g0184	1	19	0.0526	23	c.933 others(42): Show c.933+53001_933+53023dupTTTTTTTTTTTTTTTTTTTTTTT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	5/22			chr22	TogoVar
TTC28_chr22_27973014_28684840	28371509	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG03017.hp2 others(1): Show HG00280.hp1 HG00642.hp1 HG03017.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 a0001c0001 a0001c0003 a0001c0016	a0001c0001t0004 a0001c0001t0006 a0001c0003t0002 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0003t0002 a0001c0016t0002	a0001c0001t0004g0071 a0001c0001t0006g0080 a0001c0003t0002g0159 others(1): Show a0001c0001t0004g0071 a0001c0001t0006g0080 a0001c0003t0002g0159 a0001c0016t0002g0160	4	17	0.2353	23	c.382 others(42): Show c.382-64867_382-64866insTTTTTTTTTTTTTTTTTTTTTTT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC28_chr22_27973014_28684840	28604297	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0020 a0001c0019t0020	a0001c0019t0020g0148 a0001c0019t0020g0148	1	70	0.0143	23	c.381 others(42): Show c.381+25254_381+25255insTATATATATATATATATATATAT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC39B_chr9_15158622_15312216	15167028	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	23	0.0435	23	c.49 others(34): Show c.4990_*4991insAAAAAAATATATATATATATATA	TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	20/20	4990		chr9	TogoVar
TTC39B_chr9_15158622_15312216	15167028	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0124 a0001c0001t0047g0124	1	23	0.0435	23	c.49 others(34): Show c.4990_*4991insAAAAAAAAAAATATATATATATA	TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	20/20	4990		chr9	TogoVar
TTC39B_chr9_15158622_15312216	15167028	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 NA19084.hp1 HG00280.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0110 a0001c0001t0002g0080 a0001c0001t0002g0110	2	24	0.0833	23	c.49 others(34): Show c.4990_*4991insAAAAAAAAAAAAATATATATATA	TTC39B	ENSG00000155158.20	transcript	ENST00000512701.7	protein_coding	20/20	4990		chr9	TogoVar
TTC39C_chr18_24009754_24140600	24045927	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	155	0.0065	23	c.168 others(42): Show c.168-18212_168-18211insATATATATATATATATATTTTTT	TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
TTC3_chr21_37068254_37208107	37124112	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	165	0.0061	23	c.111 others(40): Show c.1110-506_1110-484dupTTTTTTTTTTTTTTTTTTTTTTT	TTC3	ENSG00000182670.14	transcript	ENST00000418766.6	protein_coding	13/45		INFO_REALIGN_3_PRIME	chr21	TogoVar
TTC5_chr14_20281227_20310951	20300156	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0211 a0001c0002t0014g0211	1	144	0.0069	23	c.396 others(38): Show c.396+450_396+451insTATATATATATATATATATATAT	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding	3/9			chr14	TogoVar
TTC7B_chr14_90519564_90821430	90694678	T T	TTTTTATT others(16): Show TTTTTATTTTATTATAAAAATATA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0132 a0001c0003t0029g0132	1	37	0.0270	23	c.777 others(38): Show c.777+821_777+822insTATATTTTTATAATAAAATAAAA	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	6/19			chr14	TogoVar
TTI1_chr20_37978021_38038456	38020319	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	367	0.0027	23	c.-41 others(40): Show c.-41-6463_-41-6462insATATATATATATATATATATATA	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	153	0.0065	23	c.-41 others(40): Show c.-41-6467_-41-6466insATATATATATATATATATTTTTT	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0049 a0001c0008t0009g0049	1	153	0.0065	23	c.-41 others(40): Show c.-41-6467_-41-6466insATATATATATATATATATATTTT	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	153	0.0065	23	c.-41 others(40): Show c.-41-6467_-41-6466insATATATATATATATATATATATT	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar
TTI1_chr20_37978021_38038456	38020323	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	153	0.0065	23	c.-41 others(40): Show c.-41-6467_-41-6466insATATATATATATATATATATATA	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	1/7			chr20	TogoVar

Search by Variant

Search

Search Results