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
UGT1A9_chr2_233666898_233778300	233724161	C C	CTGACCCC others(44): Show CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGAG GT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG02486.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0144 a0001c0001t0005g0129 a0001c0001t0005g0144	2	316	0.0063	51	c.856 others(70): Show c.856-42863_856-42862insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGAGGTTGACCCCCCC	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UIMC1_chr5_176900006_177011779	176962135	C C	CGCCCGGC others(44): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19240.hp2 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0024 a0001c0008t0001g0025 a0001c0008t0001g0024 a0001c0008t0001g0025	2	328	0.0061	51	c.120 others(70): Show c.1201-4032_1201-3982dupAGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGC	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	6/14			chr5	TogoVar
UNC5B_chr10_71207570_71307864	71296954	G G	GTGGGGCA others(44): Show GTGGGGCAGATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGG GT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02280.hp2 HG00438.hp1 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0058 a0001c0003t0008 a0001c0002t0058 a0001c0003t0008	a0001c0002t0058g0139 a0001c0003t0008g0175 a0001c0002t0058g0139 a0001c0003t0008g0175	2	350	0.0057	51	c.249 others(68): Show c.2490+212_2490+213insTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGT	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16			chr10	TogoVar
UNC5B_chr10_71207570_71307864	71297003	G G	GTGGGGCA others(44): Show GTGGGGCAGATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGG GT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0004 a0004	a0004c0036 a0004c0036	a0004c0036t0053 a0004c0036t0053	a0004c0036t0053g0226 a0004c0036t0053g0226	1	365	0.0027	51	c.249 others(68): Show c.2490+261_2490+262insTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGT	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16			chr10	TogoVar
UNC80_chr2_209766832_210004296	209844446	T T	TCTCCTTT others(44): Show TCTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCCTTCCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0011 a0011	a0011c0051 a0011c0051	a0011c0051t0001 a0011c0051t0001	a0011c0051t0001g0182 a0011c0051t0001g0182	1	169	0.0059	51	c.345 others(70): Show c.3454+2000_3454+2001insCTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTCCTTCCTTTCTTTC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64			chr2	TogoVar
URB1_chr21_32306018_32398012	32332564	A A	AGACAAAA others(44): Show AGACAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAAAG AC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03453.hp2 HG02897.hp2 HG03453.hp2	a0012 a0013 a0012 a0013	a0012c0023 a0013c0022 a0012c0023 a0013c0022	a0012c0023t0003 a0013c0022t0003 a0012c0023t0003 a0013c0022t0003	a0012c0023t0003g0288 a0013c0022t0003g0284 a0012c0023t0003g0288 a0013c0022t0003g0284	2	335	0.0060	51	c.496 others(68): Show c.4960+752_4960+753insGTCTTTTGTTTTTTTAACTTGAGTTTGG GGATTTTTTTTTTTTTTTTTGTC	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332575	A A	AAAAAAAA others(44): Show AAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAAAGACAAAAAAA AC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0027 a0001c0046t0027	a0001c0046t0027g0063 a0001c0046t0027g0063	1	336	0.0030	51	c.496 others(68): Show c.4960+741_4960+742insGTTTTTTTTGTCTTTTGTTTTTTTAACT TGAGTTTGGGGATTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(44): Show ATATATATATACATATATATATATATATACATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	116	0.0086	51	c.84- others(66): Show c.84-1281_84-1280insATATATATACATATATATATATATATACAT ATATATATATATATATATATT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP6_chr17_31855904_31906708	31859356	C C	CGGGGGCG others(44): Show CGGGGGCGGGGCGGCGCAGGGGGCGGGGCGGCGCAGGGGGCGGGGCGGCG CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02027.hp1 HG03688.hp2 others(1): Show HG00597.hp2 HG02027.hp1 HG03688.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0179 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0179 a0002c0002t0001g0011	4	122	0.0328	51	c.40 others(62): Show c.4002_*4003insTGCGCCGCCCCGCCCCCTGCGCCGCCCCGCCCCC TGCGCCGCCCCGCCCCC	UTP6	ENSG00000108651.10	transcript	ENST00000261708.9	protein_coding		1547		chr17	TogoVar
UTRN_chr6_144280335_144858034	144360054	T T	TCCCCTTC others(44): Show TCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0024 a0004c0017t0024	a0004c0017t0024g0126 a0004c0017t0024g0126	1	126	0.0079	51	c.80- others(68): Show c.80-43066_80-43065insCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCC	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144805695	A A	AAGTTCAA others(44): Show AAGTTCAAAGCCCTTCTGATTGTAGGGCCCTGTACAACTGCATAAGTGCA AT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01884.hp1 others(10): Show HG01109.hp2 HG01123.hp2 HG01884.hp1 HG01891.hp1 HG02559.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03041.hp2 HG03453.hp2 HG06807.hp1 NA19043.hp1 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0017	a0001c0001 a0001c0009 a0001c0039 others(8): Show a0001c0001 a0001c0009 a0001c0039 a0001c0045 a0001c0058 a0002c0054 a0004c0017 a0004c0019 a0004c0050 a0005c0014 a0017c0038	a0001c0001t0006 a0001c0009t0002 a0001c0009t0011 others(9): Show a0001c0001t0006 a0001c0009t0002 a0001c0009t0011 a0001c0039t0022 a0001c0045t0006 a0001c0058t0011 a0002c0054t0002 a0004c0017t0002 a0004c0019t0002 a0004c0050t0011 a0005c0014t0014 a0017c0038t0013	a0001c0001t0006g0013 a0001c0009t0002g0053 a0001c0009t0011g0078 others(10): Show a0001c0001t0006g0013 a0001c0009t0002g0053 a0001c0009t0011g0078 a0001c0009t0011g0081 a0001c0039t0022g0077 a0001c0045t0006g0060 a0001c0058t0011g0080 a0002c0054t0002g0017 a0004c0017t0002g0065 a0004c0019t0002g0057 a0004c0050t0011g0082 a0005c0014t0014g0120 a0017c0038t0013g0006	13	126	0.1032	51	c.935 others(70): Show c.9357+2601_9357+2651dupGTTCAAAGCCCTTCTGATTGTAGGGC CCTGTACAACTGCATAAGTGCAATA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	65/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
VASH2_chr1_212945541_212996585	212973813	T T	TTTTTTAG others(44): Show TTTTTTAGAAGTCTTCCTGCTCAATGCCTTCTGTGTGGTGTCTCCAGCCT CC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	376	0.0027	51	c.880 others(66): Show c.880-111_880-110insGTGTGGTGTCTCCAGCCTCCTTTTTAGAAG TCTTCCTGCTCAATGCCTTCT	VASH2	ENSG00000143494.16	transcript	ENST00000517399.3	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
VAV2_chr9_133756894_133997324	133958422	A A	ATATCTAA others(44): Show ATATCTAAAAGCACAGCACTTAATCCTTTACCTTGTCTATGATGCAAAGA TG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0068 a0002c0005t0001g0068	1	198	0.0051	51	c.205 others(70): Show c.205-19204_205-19203insCATCTTTGCATCATAGACAAGGTAAA GGATTAAGTGCTGTGCTTTTAGATA	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	1/29			chr9	TogoVar
VCX2_chrX_8164944_8176267	8169306	C C	CCCTCCCT others(44): Show CCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0030 a0005c0005t0001g0030	1	107	0.0093	51	c.72 others(60): Show c.725_*726insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		637		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169372	C C	CCCTCCCT others(44): Show CCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	1	110	0.0091	51	c.65 others(60): Show c.659_*660insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		571		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169731	C C	CCCTCCCC others(44): Show CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02145.hp1 HG02071.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0009 a0001c0002t0001 a0001c0013t0009	a0001c0002t0001g0001 a0001c0013t0009g0027 a0001c0002t0001g0001 a0001c0013t0009g0027	2	109	0.0183	51	c.30 others(60): Show c.300_*301insAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		212		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169834	C C	CCCTCCCC others(44): Show CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTC TT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0027 a0001c0013t0009g0027	1	106	0.0094	51	c.19 others(60): Show c.197_*198insAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		109		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532756	C C	CCTCCCTC others(44): Show CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACAC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	1	61	0.0164	51	c.98 others(60): Show c.988_*989insAGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		861		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532756	C C	CCTCCCTC others(44): Show CCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACAC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0005 a0009c0014t0005	a0009c0014t0005g0038 a0009c0014t0005g0038	1	61	0.0164	51	c.98 others(60): Show c.988_*989insAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGAGGGAGGGAG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		861		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466642	A A	AGGGAGGA others(44): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02451.hp2 HG02922.hp1 others(10): Show HG00558.hp1 HG02451.hp2 HG02922.hp1 NA18944.hp1 NA18948.hp1 NA18961.hp1 NA18986.hp1 NA19067.hp1 NA19075.hp1 NA19078.hp2 NA19086.hp1 NA19087.hp1 NA19240.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0009 a0014	a0001c0042 a0003c0003 a0005c0004 others(2): Show a0001c0042 a0003c0003 a0005c0004 a0009c0010 a0014c0012	a0001c0042t0001 a0003c0003t0001 a0005c0004t0001 others(2): Show a0001c0042t0001 a0003c0003t0001 a0005c0004t0001 a0009c0010t0001 a0014c0012t0013	a0001c0042t0001g0011 a0003c0003t0001g0005 a0005c0004t0001g0005 others(3): Show a0001c0042t0001g0011 a0003c0003t0001g0005 a0005c0004t0001g0005 a0009c0010t0001g0005 a0009c0010t0001g0011 a0014c0012t0013g0004	13	217	0.0599	51	c.25 others(60): Show c.259_*260insGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		133		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467071	A A	AGGGAGGG others(44): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	264	0.0038	51	c.68 others(60): Show c.688_*689insGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		562		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(44): Show TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	209	0.0048	51	c.79 others(60): Show c.797_*798insGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGAAGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(44): Show TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0005 a0009c0010t0001g0005	1	209	0.0048	51	c.79 others(60): Show c.797_*798insGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467381	A A	AAGAGGTG others(44): Show AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03516.hp2 NA19030.hp1 HG02647.hp1 HG03516.hp2 NA19030.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0004 a0003c0003 a0005c0004	a0003c0003t0001 a0005c0004t0001 a0003c0003t0001 a0005c0004t0001	a0003c0003t0001g0004 a0005c0004t0001g0012 a0003c0003t0001g0004 a0005c0004t0001g0012	3	221	0.0136	51	c.99 others(60): Show c.998_*999insAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		872		chrX	TogoVar
VCX_chrX_7838171_7849143	7839409	C C	CTGTCTAT others(44): Show CTGTCTATTCTCTCTCTCGAGTCAGTCAGTGTGATGCTGCTGGCCTGTGT TT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	340	0.0029	51	c.-37 others(62): Show c.-3795_-3794insTGTCTATTCTCTCTCTCGAGTCAGTCAGTGTGAT GCTGCTGGCCTGTGTTT	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		3761		chrX	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(44): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	151	0.0132	51	c.35 others(60): Show c.354_*355insGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACAGAGACAGA CA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	221	0.0045	51	c.375 others(64): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGACAGAGACAGACAG AGACAGACAGAGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGACAGACAGAGACAGA CA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	221	0.0045	51	c.375 others(64): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGAGAGACAGAGACAG AGACAGACAGAGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGA CA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19005.hp1 NA19007.hp1 others(2): Show HG02559.hp1 NA19005.hp1 NA19007.hp1 NA19077.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	5	225	0.0222	51	c.375 others(64): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAG AGACAGACAGAGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VIPR2_chr7_159023175_159149867	159077700	A A	ATGCCTGT others(44): Show ATGCCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTACTACAG TG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0073 a0001c0002t0045g0073	1	315	0.0032	51	c.358 others(70): Show c.358-19173_358-19123dupCACTGTAGTACCTCAAAGACATTGAA CAGGGCTAGAATCTGATAACAGGCA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VNN2_chr6_132738870_132762904	132758000	T T	TTTCTTCT others(44): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0061 a0002c0004t0001g0061	1	277	0.0036	51	c.-11 others(60): Show c.-118_-117insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		97		chr6	TogoVar
VPS13A_chr9_77172534_77426537	77193172	G G	GTTTTTTA others(44): Show GTTTTTTAGCTCTGTCAGATCAGTTTGGTTGTTTCTTAAAATGACTATTT CA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0017 a0001c0030t0017	a0001c0030t0017g0173 a0001c0030t0017g0173	1	346	0.0029	51	c.101 others(68): Show c.101-6767_101-6717dupTAGCTCTGTCAGATCAGTTTGGTTGTTT CTTAAAATGACTATTTCATTTTT	VPS13A	ENSG00000197969.14	transcript	ENST00000360280.8	protein_coding	1/71		INFO_REALIGN_3_PRIME	chr9	TogoVar
VPS33A_chr12_122224564_122271494	122226363	A A	AGGGAGGC others(44): Show AGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG03579.hp1 NA19007.hp2 HG00621.hp2 HG03579.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0005 a0001c0001t0006 a0001c0003t0005	a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0003t0005g0020 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0003t0005g0020	3	288	0.0104	51	c.58 others(62): Show c.5832_*5882dupGCCCGGCCCCGCCTCCCGCCCGGCCCCGCCTCCC GCCCGGCCCCGCCTCCC	VPS33A	ENSG00000139719.11	transcript	ENST00000267199.9	protein_coding		3200		chr12	TogoVar
VPS45_chr1_150062776_150150329	150065842	T T	TCAAAATG others(44): Show TCAAAATGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	133	0.0075	51	c.-20 others(62): Show c.-2016_-2015insCAAAATGTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCG	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding		1933		chr1	TogoVar
VSIG4_chrX_66016738_66045080	66037273	A A	AATATAAT others(44): Show AATATAATATATATTATATTATTAATATAATATATAATATATATTATATA AT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp1 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	214	0.0093	51	c.55+ others(66): Show c.55+2670_55+2671insATTATATAATATATATTATATATTATATTA ATAATATAATATATATTATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
VSTM2B_chr19_29520994_29569551	29567622	G G	GGGCACAG others(44): Show GGGCACAGGGAGGGGCTGGTGTGATGGGCACATGGGAGGGACTGCTATGA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	406	0.0025	51	c.36 others(62): Show c.3688_*3689insGGCACAGGGAGGGGCTGGTGTGATGGGCACATGG GAGGGACTGCTATGATA	VSTM2B	ENSG00000187135.8	transcript	ENST00000335523.8	protein_coding		3072		chr19	TogoVar
VWA8_chr13_41561835_41966109	41571283	G G	GTCTCCCT others(44): Show GTCTCCCTCTCCCGTCTCCCTCTCCCTCCTCCCTCTCCCTCTCCCGTCTC CC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG01175.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0002 a0001c0001t0002 a0004c0006t0002	a0001c0001t0002g0007 a0001c0001t0002g0192 a0001c0001t0002g0193 others(1): Show a0001c0001t0002g0007 a0001c0001t0002g0192 a0001c0001t0002g0193 a0004c0006t0002g0234	4	244	0.0164	51	c.537 others(68): Show c.5371-628_5371-578dupGGGAGACGGGAGAGGGAGAGGGAGGAGG GAGAGGGAGACGGGAGAGGGAGA	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	43/44			chr13	TogoVar
VWC2L_chr2_214406054_214583976	214496245	T T	TATTTTGG others(44): Show TATTTTGGGACATATATATATATATATATATATATATATATATATATATA TA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp1 HG06807.hp2 others(4): Show HG02717.hp2 HG03130.hp1 HG06807.hp2 NA18990.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0176 others(4): Show a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0176 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0010g0065 a0001c0001t0010g0148	7	210	0.0333	51	c.520 others(70): Show c.520+59487_520+59488insATTTTGGGACATATATATATATATAT ATATATATATATATATATATATATA	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3			chr2	TogoVar
VWC2_chr7_49768638_49926950	49887563	T T	TCATTTGT others(44): Show TCATTTGTGTCTATATGATAATCAGATGTCAATGGCAGATGTCAATGGTT TC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG02970.hp1 others(5): Show HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0008 a0002c0002t0028 a0003c0003t0035 a0001c0001t0008 a0002c0002t0028 a0003c0003t0035	a0001c0001t0008g0185 a0001c0001t0008g0186 a0001c0001t0008g0195 others(5): Show a0001c0001t0008g0185 a0001c0001t0008g0186 a0001c0001t0008g0195 a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0198 a0002c0002t0028g0212 a0003c0003t0035g0245	8	254	0.0315	51	c.827 others(70): Show c.827-24460_827-24459insATATGATAATCAGATGTCAATGGCAG ATGTCAATGGTTTCCATTTGTGTCT	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WASF3_chr13_26552683_26693948	26559809	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0228 a0001c0002t0004g0228	1	270	0.0037	51	c.-10 others(70): Show c.-109+1992_-109+1993insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WDFY4_chr10_48679873_48987956	48787986	C C	CCTTCTCC others(44): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0004 a0013c0022t0004	a0013c0022t0004g0124 a0013c0022t0004g0124	1	173	0.0058	51	c.380 others(68): Show c.3809-499_3809-498insCTCCTTCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	20/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR72_chr15_53508741_53764663	53739662	A A	ACTTTGTA others(44): Show ACTTTGTATTGCTCTTTTGTATTGTATTGCTCTTTTGTATTGTATTGTAA CT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18985.hp1 NA18964.hp1 NA18985.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0093 a0002c0001t0004g0209 a0002c0001t0004g0093 a0002c0001t0004g0209	2	314	0.0064	51	c.-12 others(68): Show c.-12-6502_-12-6501insAGTTACAATACAATACAAAAGAGCAATA CAATACAAAAGAGCAATACAAAG	WDR72	ENSG00000166415.15	transcript	ENST00000360509.10	protein_coding	1/19			chr15	TogoVar
WDR87_chr19_37879823_37911594	37880989	A A	ATATATAT others(44): Show ATATATATAATATATATATATATAATATATATATATAATATATATATATT AT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	216	0.0046	51	c.39 others(62): Show c.3942_*3943insATAATATATATATATTATATATATATATTATATA TATATATATTATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3833		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(44): Show TAATATATATATATTTTATATATATATTATATATATATATATATAGAGAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	49	0.0204	51	c.37 others(62): Show c.3793_*3794insCTCTCTCTATATATATATATATATAATATATATA TAAAATATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WIPF2_chr17_40214304_40289136	40219368	T T	TGGCGGCG others(44): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0019 a0001c0001t0135g0019	1	207	0.0048	51	c.-16 others(60): Show c.-163_-162insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCGGCGGCGGCGGCG	WIPF2	ENSG00000171475.14	transcript	ENST00000323571.9	protein_coding	1/8	37060	INFO_REALIGN_3_PRIME	chr17	TogoVar
XAF1_chr17_6751046_6780647	6751534	A A	AAAGAAGA others(44): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	296	0.0034	51	c.-45 others(62): Show c.-4545_-4544insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAG	XAF1	ENSG00000132530.17	transcript	ENST00000361842.8	protein_coding		4511		chr17	TogoVar
XAF1_chr17_6751046_6780647	6751581	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0018 a0003c0004t0002g0018	1	417	0.0024	51	c.-44 others(62): Show c.-4498_-4497insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAG	XAF1	ENSG00000132530.17	transcript	ENST00000361842.8	protein_coding		4464		chr17	TogoVar
XKR7_chr20_31963151_32008387	31985848	C C	CACCAAGC others(44): Show CACCAAGCGGACCCAGCATCCAGACACAGACAGACAGACAGACAGACAGA CT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	302	0.0033	51	c.585 others(68): Show c.585-9212_585-9162dupGGACCCAGCATCCAGACACAGACAGACA GACAGACAGACAGACTACCAAGC	XKR7	ENSG00000260903.3	transcript	ENST00000562532.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
XKRX_chrX_100908445_100933917	100917674	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	60	0.0167	51	c.605 others(68): Show c.605-2592_605-2591insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	XKRX	ENSG00000182489.9	transcript	ENST00000372956.3	protein_coding	2/2			chrX	TogoVar
XPR1_chr1_180627022_180895279	180859063	A A	ACTAGTAA others(44): Show ACTAGTAAATTATTACCAGAAGAGAAAGGTTTTAGGTGAAAAGAAAACCA TT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG01884.hp2 others(14): Show HG01192.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 NA18522.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0012 a0001c0002t0017 others(2): Show a0001c0002t0011 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0002t0025	a0001c0002t0011g0083 a0001c0002t0011g0084 a0001c0002t0011g0085 others(14): Show a0001c0002t0011g0083 a0001c0002t0011g0084 a0001c0002t0011g0085 a0001c0002t0011g0086 a0001c0002t0011g0087 a0001c0002t0012g0082 a0001c0002t0012g0088 a0001c0002t0012g0089 a0001c0002t0012g0090 a0001c0002t0012g0091 a0001c0002t0017g0241 a0001c0002t0017g0242 a0001c0002t0017g0243 a0001c0002t0018g0007 a0001c0002t0018g0008 a0001c0002t0018g0009 a0001c0002t0025g0006	17	328	0.0518	51	c.150 others(70): Show c.1502-4644_1502-4643insTAGTAAATTATTACCAGAAGAGAAAG GTTTTAGGTGAAAAGAAAACCATTC	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results