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
BMPER_chr7_33900539_34161427	34129618	G G	GAGAAGAG others(32): Show GAGAAGAGAGAGAGAGAGAAAGAGAGAAAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0027 a0001c0003t0003g0027	1	109	0.0092	39	c.174 others(60): Show c.1746-13609_1746-13608insAGAGAGAGAGAGAGAAAGAGAGAA AGAGAGAAAGAAAGA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BNIPL_chr1_151031586_151052720	151047270	G G	GGAGCTAG others(32): Show GGAGCTAGGGTTGTTTAATCCTACTTTAGGTAGAACCTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	360	0.0028	39	c.58 others(48): Show c.583_*584insGAGCTAGGGTTGTTTAATCCTACTTTAGGTAGAACC TTC	BNIPL	ENSG00000163141.20	transcript	ENST00000368931.8	protein_coding	10/10	584		chr1	TogoVar
BOC_chr3_113206557_113292459	113260670	A A	AATAGAAC others(32): Show AATAGAACAGAACAGAACAGAACAGAACAGAACAGAACAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0025 a0005c0019t0025	a0005c0019t0025g0038 a0005c0019t0025g0038	1	383	0.0026	39	c.377 others(56): Show c.377-7628_377-7627insTAGAACAGAACAGAACAGAACAGAACAG AACAGAACAGA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260672	C C	CAGAACAG others(32): Show CAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02615.hp2 others(2): Show HG02257.hp2 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0004 a0001c0009 a0002c0004	a0001c0009t0001 a0001c0009t0035 a0001c0009t0044 others(1): Show a0001c0009t0001 a0001c0009t0035 a0001c0009t0044 a0002c0004t0007	a0001c0009t0001g0245 a0001c0009t0035g0132 a0001c0009t0044g0258 others(2): Show a0001c0009t0001g0245 a0001c0009t0035g0132 a0001c0009t0044g0258 a0002c0004t0007g0278 a0002c0004t0007g0280	5	355	0.0141	39	c.377 others(56): Show c.377-7626_377-7588dupAGAACAGAACAGAACAGAACAGAACAGA ACAGAACAGAA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260677	C C	CAGAACAG others(32): Show CAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03139.hp1 NA18943.hp1 others(2): Show HG02735.hp2 HG03139.hp1 NA18943.hp1 NA19060.hp1 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0004 a0001c0002 a0001c0010 a0002c0004	a0001c0002t0002 a0001c0002t0003 a0001c0010t0002 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0010t0002 a0002c0004t0001	a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0003g0217 others(2): Show a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0003g0217 a0001c0010t0002g0029 a0002c0004t0001g0355	5	377	0.0133	39	c.377 others(56): Show c.377-7621_377-7583dupAGAACAGAACAGAACAGAACAGAACAGA ACAGAACAGAA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260695	A A	AACAGAAA others(32): Show AACAGAAAGAACAGAACAGAACAGAACAGAACAGAACAGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0256 a0001c0012t0006g0256	1	384	0.0026	39	c.377 others(56): Show c.377-7598_377-7597insAGAACAGAACAGAACAGAACAGAACAGA ACAGCACAGAA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOK_chr2_241553745_241579131	241573135	T T	TGGTGAAG others(32): Show TGGTGAAGGGGCCGGAACACTTGCTCTCACCTGAGCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0041 a0001c0001t0033g0041	1	318	0.0031	39	c.72 others(48): Show c.725_*726insGGAACACTTGCTCTCACCTGAGCCCCAGGTGAAGGG GCC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	726	INFO_REALIGN_3_PRIME	chr2	TogoVar
BOLA2B_chr16_30187932_30198666	30190349	T T	TTATATAT others(32): Show TTATATATTATACTATATAATAATATAGTATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	39	c.26 others(50): Show c.2625_*2626insTTATATATTATACTATATTATTATATAGTATAAT ATATA	BOLA2B	ENSG00000169627.9	transcript	ENST00000651894.2	protein_coding		2582		chr16	TogoVar
BOP1_chr8_144257045_144296438	144262838	G G	GCCCCCCC others(32): Show GCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0057 a0002c0004t0001g0057	1	364	0.0027	39	c.189 others(54): Show c.1894+14_1894+15insGGGGGCGGTGTACCCTGCAGGTGAGGGGTG GGGGGGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(32): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02145.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0288 a0001c0001t0001g0133 a0001c0001t0001g0288	2	376	0.0053	39	c.121 others(58): Show c.1218-5197_1218-5196insGAGGAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32424754	T T	TCTCCTTC others(32): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0362 a0004c0004t0002g0362	1	409	0.0024	39	c.121 others(58): Show c.1218-5351_1218-5350insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BRCA1_chr17_43039295_43130364	43100595	T T	TTATATAT others(32): Show TTATATATATATAACATATATATAACATATATATATATTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0160 a0003c0003t0004g0160	1	166	0.0060	39	c.442 others(54): Show c.442-716_442-715insTAATATATATATATGTTATATATATGTTAT ATATATATA	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRD1_chr22_49768283_49832873	49775819	C C	CCCCCCCG others(32): Show CCCCCCCGCCCCCCGCAGCTGTGTGAGCCTCCTCAGAACT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	178	0.0056	39	c.323 others(54): Show c.3232-75_3232-74insAGTTCTGAGGAGGCTCACACAGCTGCGGGG GGCGGGGGG	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	11/12			chr22	TogoVar
BROX_chr1_222707564_222740187	222739889	T T	TCTATGGC others(32): Show TCTATGGCACTGATAGATATGAATATGATTTTGTCAGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	39	c.71 others(50): Show c.7175_*7176insCTATGGCACTGATAGATATGAATATGATTTTGTC AGTTG	BROX	ENSG00000162819.12	transcript	ENST00000340934.10	protein_coding		4703		chr1	TogoVar
BRWD3_chrX_80664503_80814877	80725825	C C	CGTATAAC others(32): Show CGTATAACATGTTTACATGTGTTACATGCCTATATAACGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01192.hp1 others(50): Show HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG02071.hp1 HG02080.hp1 HG02165.hp2 HG02257.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG03041.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18959.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18980.hp2 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(23): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0020 a0001c0001t0025 a0001c0001t0030 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0075 a0001c0001t0085 a0001c0001t0088 a0001c0001t0090 a0001c0001t0095 a0001c0001t0096 a0001c0004t0068 a0001c0004t0069	a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0018 others(49): Show a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0034 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0007g0148 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0011g0073 a0001c0001t0011g0074 a0001c0001t0011g0075 a0001c0001t0011g0077 a0001c0001t0017g0119 a0001c0001t0020g0001 a0001c0001t0025g0175 a0001c0001t0025g0176 a0001c0001t0030g0040 a0001c0001t0042g0004 a0001c0001t0046g0031 a0001c0001t0047g0023 a0001c0001t0052g0037 a0001c0001t0054g0047 a0001c0001t0057g0059 a0001c0001t0058g0065 a0001c0001t0061g0141 a0001c0001t0064g0142 a0001c0001t0065g0146 a0001c0001t0075g0172 a0001c0001t0085g0191 a0001c0001t0088g0201 a0001c0001t0090g0224 a0001c0001t0095g0238 a0001c0001t0096g0244 a0001c0004t0068g0165 a0001c0004t0069g0166	53	90	0.5889	39	c.138 others(56): Show c.1387-759_1387-758insACGTTATATAGGCATGTAACACATGTAA ACATGTTATAC	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/40			chrX	TogoVar
BSX_chr11_122972570_122986834	122985687	A A	AAGTCTTA others(32): Show AAGTCTTAGGAGATTAAGTAAATGCACCTAAATCATACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	39	c.-40 others(50): Show c.-4017_-4016insAAGTATGATTTAGGTGCATTTACTTAATCTCCTA AGACT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		3854		chr11	TogoVar
BTBD9_chr6_38163451_38644929	38505964	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0085 a0001c0001t0076g0085	1	11	0.0909	39	c.115 others(60): Show c.1154+71635_1154+71636insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTC_chr4_74739759_74799523	74798909	T T	TGTTGTTG others(32): Show TGTTGTTGTTTTTGAGACAGAGTCTCAGTCTGTTGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA19030.hp2 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0197 a0001c0001t0002g0198	2	265	0.0075	39	c.-45 others(50): Show c.-4585_-4584insCTGGGCAACAGACTGAGACTCTGTCTCAAAAACA ACAAC	BTC	ENSG00000174808.12	transcript	ENST00000395743.8	protein_coding		4387		chr4	TogoVar
BTC_chr4_74739759_74799523	74798933	G G	GTCTCAGT others(32): Show GTCTCAGTCTGTCGCCCAGGTTGTTGTTGTTTTTGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0042 a0002c0002t0013g0042	1	323	0.0031	39	c.-46 others(50): Show c.-4609_-4608insTGTCTCAAAAACAACAACAACCTGGGCGACAGAC TGAGA	BTC	ENSG00000174808.12	transcript	ENST00000395743.8	protein_coding		4411		chr4	TogoVar
BTC_chr4_74739759_74799523	74798933	G G	GTCTCAGT others(32): Show GTCTCAGTCTGTTGCCCAGGTTGTTGTTGTTTTTGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01167.hp1 others(32): Show HG01070.hp1 HG01081.hp1 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG02109.hp1 HG02148.hp1 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03831.hp2 NA18522.hp2 NA18940.hp1 NA18990.hp1 NA19043.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0020 a0003c0003t0003 a0003c0003t0006 a0004c0004t0003 a0004c0004t0011	a0001c0001t0001g0004 a0001c0001t0001g0110 a0001c0001t0001g0182 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0110 a0001c0001t0001g0182 a0001c0001t0002g0206 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0004g0208 a0001c0001t0009g0020 a0001c0001t0009g0149 a0002c0002t0001g0017 a0002c0002t0001g0057 a0002c0002t0001g0066 a0002c0002t0001g0097 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0002g0013 a0002c0002t0002g0052 a0002c0002t0002g0098 a0002c0002t0002g0105 a0002c0002t0004g0107 a0002c0002t0007g0043 a0002c0002t0020g0103 a0003c0003t0003g0199 a0003c0003t0006g0196 a0003c0003t0006g0200 a0003c0003t0006g0202 a0004c0004t0003g0063 a0004c0004t0003g0065 a0004c0004t0003g0100 a0004c0004t0003g0101 a0004c0004t0011g0102	35	357	0.0980	39	c.-46 others(50): Show c.-4609_-4608insTGTCTCAAAAACAACAACAACCTGGGCAACAGAC TGAGA	BTC	ENSG00000174808.12	transcript	ENST00000395743.8	protein_coding		4411		chr4	TogoVar
C10orf90_chr10_126419997_126675693	126565110	A A	AAATATAA others(32): Show AAATATAATATTTATATTACATATTATGTAATATAATATT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0116 a0007c0016t0001g0116	1	209	0.0048	39	c.314 others(58): Show c.314-51172_314-51171insAATATTATATTACATAATATGTAATA TAAATATTATATT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565378	A A	AATATATA others(32): Show AATATATATTATATATATTATATTATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03927.hp1 HG03669.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0079 a0001c0001t0001g0080	2	216	0.0093	39	c.314 others(58): Show c.314-51478_314-51440dupAATATATATTATATATAATATAATAT ATATAATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf65_chr11_108377755_108472529	108408671	C C	CAATAAAT others(32): Show CAATAAATAAAATAACATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG02622.hp2 HG00738.hp2 HG01099.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296	3	311	0.0096	39	c.175 others(56): Show c.175-1523_175-1522insTTATTTTATTTTATTTTATTTTATGTTA TTTTATTTATT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394174	G G	GTTTCTTT others(32): Show GTTTCTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	402	0.0025	39	c.57 others(50): Show c.5785_*5786insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAA AGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4357		chr11	TogoVar
C12orf54_chr12_48477498_48501524	48500948	T T	TGATGGCA others(32): Show TGATGGCAGCCGGGAAGAGGCGCTCCTCACTCCTAGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	312	0.0032	39	c.48 others(50): Show c.4808_*4809insGATGGCAGCCGGGAAGAGGCGCTCCTCACTCCTA GATGG	C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding		4425		chr12	TogoVar
C13orf42_chr13_51077119_51116274	51077919	G G	GCCCATCT others(32): Show GCCCATCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	449	0.0022	39	c.62 others(50): Show c.6231_*6232insTGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAG ATGGG	C13orf42	ENSG00000226792.8	transcript	ENST00000563710.7	protein_coding		4199		chr13	TogoVar
C13orf46_chr13_113948705_113979076	113965746	G G	GTGATGAT others(32): Show GTGATGATGATGGTGATGGTGGTGATGATGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	137	0.0073	39	c.505 others(54): Show c.505-753_505-752insTCACCATCACCATCATCACCACCATCACCA TCATCATCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	5/6			chr13	TogoVar
C17orf78_chr17_37370985_37397708	37372438	A A	ATAGTGTG others(32): Show ATAGTGTGCAGGTACAATAATTTTAAAGCTAGAAGAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0263 a0002c0002t0001g0263	1	440	0.0023	39	c.-36 others(50): Show c.-3655_-3654insTAGTGTGCAGGTACAATAATTTTAAAGCTAGAAG AGGCC	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding		3546		chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTATATAT others(32): Show TTATATATTATACATAATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	282	0.0035	39	c.750 others(54): Show c.750+949_750+950insTATACATAATTATATATATATATATATATA TATATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(32): Show TTTTATATATATATATATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG01255.hp1 others(4): Show HG00544.hp1 HG00642.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01993.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0167 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0167 a0001c0001t0001g0262	7	288	0.0243	39	c.750 others(54): Show c.750+943_750+944insTTATATATATATATATTATATATATATATA TATATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(32): Show TTTTATATATATATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18986.hp1 NA18975.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0296 a0001c0001t0001g0045 a0001c0001t0001g0296	2	283	0.0071	39	c.750 others(54): Show c.750+943_750+944insTTATATATATATATTATATATATATATATA TATATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C17orf78_chr17_37370985_37397708	37395683	C C	CAGGCATG others(32): Show CAGGCATGCACCACCATGCTCGGCTAATTTTTGTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	440	0.0023	39	c.39 others(50): Show c.3959_*3960insAGGCATGCACCACCATGCTCGGCTAATTTTTGTA TTTTT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding		2976		chr17	TogoVar
C18orf63_chr18_74310839_74364189	74361749	T T	TTATAATA others(32): Show TTATAATATATATTATATATAATTATATATTTATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0058 a0001c0001t0018g0058	1	363	0.0028	39	c.53 others(50): Show c.5302_*5303insTATAATATATATTATATATAATTATATATTTATA TATAA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2561		chr18	TogoVar
C1QTNF9_chr13_24304580_24327531	24309306	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	459	0.0022	39	c.-33 others(48): Show c.-333_-332insATATATATATATATATATATATATATATATATATAT ATA	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		273		chr13	TogoVar
C1orf56_chr1_151042751_151056420	151047270	G G	GGAGCTAG others(32): Show GGAGCTAGGGTTGTTTAATCCTACTTTAGGTAGAACCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	340	0.0029	39	c.-57 others(48): Show c.-578_-577insGAGCTAGGGTTGTTTAATCCTACTTTAGGTAGAACC TTC	C1orf56	ENSG00000143443.10	transcript	ENST00000368926.6	protein_coding		480		chr1	TogoVar
C20orf96_chr20_265863_295750	278987	G G	GGGACGGA others(32): Show GGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	408	0.0025	39	c.465 others(54): Show c.465+184_465+185insTCCCGCCCTCCGTCCCGCCCTCCCTCCCTC CCTCCGTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01993.hp2 HG02273.hp2 others(1): Show HG00558.hp2 HG01993.hp2 HG02273.hp2 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0141 a0002c0002t0001g0143 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0166	4	174	0.0230	39	c.35 others(50): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32145686	A A	ATATAATG others(32): Show ATATAATGATATATAATTTATTATATAATGATATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01891.hp1 HG03540.hp2 others(1): Show HG00738.hp1 HG01891.hp1 HG03540.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0002 a0002c0002t0002 a0002c0006t0002	a0002c0002t0002g0015 a0002c0002t0002g0083 a0002c0006t0002g0010 a0002c0002t0002g0015 a0002c0002t0002g0083 a0002c0006t0002g0010	4	302	0.0132	39	c.38 others(50): Show c.3853_*3854insAATTATATATCATTATATAATAAATTATATATCA TTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3319		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0011 a0002c0007t0002g0011	1	114	0.0088	39	c.16 others(50): Show c.1637_*1638insAAAAAAAAATATATATATATATATATATATATAT ATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2orf16_chr2_27532386_27587722	27557917	A A	ATCCCCCC others(32): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0047 a0047	a0047c0036 a0047c0036	a0047c0036t0001 a0047c0036t0001	a0047c0036t0001g0256 a0047c0036t0001g0256	1	229	0.0044	39	c.145 others(56): Show c.145-7420_145-7419insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGACC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4			chr2	TogoVar
C2orf69_chr2_199906293_199933273	199913481	A A	AATATATA others(32): Show AATATATATTCTATTATATAAAATATATATTATATAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18966.hp1 HG01884.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0003 a0001c0001t0021	a0001c0001t0003g0180 a0001c0001t0021g0156 a0001c0001t0003g0180 a0001c0001t0021g0156	2	77	0.0260	39	c.333 others(56): Show c.333+1719_333+1720insCTATTATATAAAATATATATTATATAAA ATATATATATT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf92_chr2_97664713_97708066	97705429	G G	GAAAAAAA others(32): Show GAAAAAAATCATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0171 a0006c0011t0002g0171	1	308	0.0032	39	c.26 others(50): Show c.2628_*2629insAAAAAAATCATTTTTTTTTTTTTTTTTTTTTTTT TTTTT	C2orf92	ENSG00000228486.11	transcript	ENST00000627399.4	protein_coding		2364		chr2	TogoVar
C3_chr19_6672704_6725650	6700337	A A	AATATGTA others(32): Show AATATGTAATATATGATATATATGTAATATGATATATTAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0001 a0001c0049t0001	a0001c0049t0001g0244 a0001c0049t0001g0244	1	364	0.0027	39	c.244 others(58): Show c.2440+1751_2440+1789dupATAATATATCATATTACATATATATC ATATATTACATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C6orf118_chr6_165274664_165314605	165278263	C C	CCCTGTTA others(32): Show CCCTGTTAATATGGAATAATGCACCTTTGTTGCCCAAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	358	0.0028	39	c.17 others(50): Show c.1793_*1794insACTTTGGGCAACAAAGGTGCATTATTCCATATTA ACAGG	C6orf118	ENSG00000112539.15	transcript	ENST00000230301.9	protein_coding		1400		chr6	TogoVar
C7orf50_chr7_992006_1143247	1136201	A A	AATATATA others(32): Show AATATATAAATATATATAAACATATATAAATATATAAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02145.hp1 others(22): Show HG01243.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0002c0002t0003 a0002c0002t0018	a0001c0001t0002g0315 a0001c0001t0003g0290 a0001c0001t0003g0291 others(22): Show a0001c0001t0002g0315 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0308 a0001c0001t0005g0311 a0001c0001t0011g0306 a0001c0001t0011g0307 a0001c0001t0012g0289 a0001c0001t0012g0292 a0001c0001t0012g0305 a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0012g0318 a0001c0001t0015g0316 a0001c0001t0015g0317 a0002c0002t0003g0288 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0319 a0002c0002t0018g0202 a0002c0002t0018g0203	25	322	0.0776	39	c.-2+ others(54): Show c.-2+1075_-2+1113dupATTTTATATATTTATATATGTTTATATATA TTTATATAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68794505	A A	ATATATAT others(32): Show ATATATATATATATATATAAATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	66	0.0152	39	c.154 others(58): Show c.1549+6970_1549+6971insATATATATATATATATAAATATATAT ATATATATATTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf76_chr8_123214967_123246377	123243003	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	228	0.0044	39	c.-16 others(50): Show c.-1658_-1657insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	C8orf76	ENSG00000189376.12	transcript	ENST00000276704.6	protein_coding		1627		chr8	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(32): Show GATATATATATATATATATATGCTAGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	163	0.0061	39	c.565 others(56): Show c.565-1863_565-1862insATATATATATATATCTAGCATATATATA TATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTT others(32): Show GTTTTTTTGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0275 a0001c0001t0009g0275	1	63	0.0159	39	c.845 others(58): Show c.845+13607_845+13608insGTTTTTTTTGTTTTTGTTTTTGTTTT TTTTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTT others(32): Show GTTTTTTTGTTTTTTTTTTTTTTGTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG03195.hp2 HG02257.hp2 HG02630.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0258 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0002g0258 a0001c0001t0007g0268 a0001c0001t0007g0269	3	65	0.0462	39	c.845 others(58): Show c.845+13607_845+13608insGTTTTTTTTTTTTTTGTTTTTGTTTT TTTTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results