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
INSC_chr11_15109923_15252208	15210371	A A	AGCCTGTT others(41): Show AGCCTGTTCTGTGGGCTACAGACATGCCTGTTCTGTGGGCTACAGACAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0010 a0001c0002t0023g0010	1	168	0.0060	48	c.819 others(65): Show c.819+9460_819+9461insCTACAGACATGCCTGTTCTGTGGGCTAC AGACATGCCTGTTCTGTGGG	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSR_chr19_7107265_7299414	7136828	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0075 a0001c0006t0075	a0001c0006t0075g0084 a0001c0006t0075g0084	1	8	0.1250	48	c.268 others(67): Show c.2683-4512_2683-4511insATATATATATATATATATATATATAT ATATATATATATATATATATAT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	13/21			chr19	TogoVar
INTS11_chr1_1306600_1329660	1324172	G G	GGGGCTCG others(41): Show GGGGCTCGGGGGCTGGGGGGCTGCTGGGCTGAGAGGCTGGGAGACTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(31): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02257.hp1 HG02486.hp1 HG02683.hp2 HG03017.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18967.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0014 a0001c0001 a0001c0003 a0002c0014	a0001c0001t0001 a0001c0003t0001 a0002c0014t0001 a0001c0001t0001 a0001c0003t0001 a0002c0014t0001	a0001c0001t0001g0038 a0001c0003t0001g0005 a0001c0003t0001g0012 others(14): Show a0001c0001t0001g0038 a0001c0003t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0204 a0002c0014t0001g0132	34	161	0.2112	48	c.28+ others(61): Show c.28+408_28+409insTCCAGTCTCCCAGCCTCTCAGCCCAGCAGCCC CCCAGCCCCCGAGCCC	INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding	1/16			chr1	TogoVar
INTS4_chr11_77873720_77999668	77920206	C C	CACACATA others(41): Show CACACATATATATACACATATATACACACATATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	223	0.0045	48	c.176 others(67): Show c.1764+1133_1764+1134insATATATATGTGTATATATATGTGTGT ATATATGTGTATATATATGTGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTU_chr4_127627957_127731737	127691980	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0019 a0005c0008t0019	a0005c0008t0019g0136 a0005c0008t0019g0136	1	351	0.0028	48	c.144 others(67): Show c.1449+4114_1449+4115insATATATATATATATATATATATATAT ATATATATATATATATGTGTGT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691980	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0135 a0001c0001t0027g0135	1	351	0.0028	48	c.144 others(67): Show c.1449+4114_1449+4115insATATATATATATATATATATATATAT ATATATATATATATGTGTGTGT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(41): Show ACCTCCACCACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	147	0.0068	48	c.-62 others(65): Show c.-62+2256_-62+2257insAGATGGTGGAGGTGGTTGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGG	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154354415	A A	ACCTCCAC others(41): Show ACCTCCACCACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp2 others(35): Show HG00140.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01081.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp2 HG02155.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA19030.hp2 NA19056.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0002c0003t0008 a0005c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0156 a0001c0001t0001g0182 a0001c0001t0001g0253 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0102 a0001c0001t0004g0115 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0143 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0250 a0001c0001t0009g0079 a0001c0001t0012g0084 a0002c0003t0008g0099 a0002c0003t0008g0100 a0002c0003t0008g0101 a0005c0005t0004g0086	38	184	0.2065	48	c.-62 others(65): Show c.-62+2209_-62+2256dupAGATGGTGGAGGTGGTGGTGGAGGAGAT GGTGGAGGTGGTGGTGGAGG	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154354447	C C	CACCACCT others(41): Show CACCACCTCCACCATCTCCTCCACAACCACCTCCACCATCTCCTCCACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	200	0.0050	48	c.-62 others(65): Show c.-62+2224_-62+2225insTGTGGAGGAGATGGTGGAGGTGGTTGTG GAGGAGATGGTGGAGGTGGT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154354447	C C	CACCACCT others(41): Show CACCACCTCCACCATCTCCTCCACCACCACCTCCACCATCTCCTCCACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00738.hp1 others(22): Show HG00544.hp2 HG00558.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG02071.hp2 HG02132.hp1 HG02148.hp1 HG02523.hp1 HG02735.hp2 HG03491.hp2 HG03492.hp2 HG04204.hp2 NA18747.hp1 NA18941.hp1 NA18955.hp2 NA18971.hp2 NA18974.hp2 NA18995.hp1 NA18995.hp2 NA19012.hp1 NA19062.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0002t0004 a0004c0006t0001	a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0054 others(22): Show a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0207 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0132 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0162 a0001c0001t0010g0050 a0001c0001t0010g0222 a0001c0001t0021g0046 a0001c0002t0004g0041 a0004c0006t0001g0051	25	224	0.1116	48	c.-62 others(65): Show c.-62+2224_-62+2225insTGTGGAGGAGATGGTGGAGGTGGTGGTG GAGGAGATGGTGGAGGTGGT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPO11_chr5_62407763_62633582	62435210	G G	GTATATAT others(41): Show GTATATATGTATATATATGTATATATGTATATATGTATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	180	0.0056	48	c.-6- others(63): Show c.-6-2063_-6-2062insATATATGTATATATATGTATATATGTATAT ATGTATATATATGTATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62470816	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	15	0.0667	48	c.708 others(63): Show c.708+537_708+538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(41): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18979.hp1 NA19007.hp2 HG00738.hp1 NA18979.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0092 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0092	3	27	0.1111	48	c.85- others(63): Show c.85-5948_85-5947insAAAAAAAAAATATATATATATATATATATA TATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQCA1L_chr7_151185873_151210496	151200912	C C	CTCTCCCA others(41): Show CTCTCCCAGGCCCAAGACCCCATCTGTGCAGAGCTGGACCCGTCCTCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp1 NA18612.hp2 HG02717.hp1 HG03471.hp1 NA18612.hp2	a0018 a0027 a0018 a0027	a0018c0073 a0027c0092 a0027c0093 a0018c0073 a0027c0092 a0027c0093	a0018c0073t0001 a0027c0092t0001 a0027c0093t0001 a0018c0073t0001 a0027c0092t0001 a0027c0093t0001	a0018c0073t0001g0119 a0027c0092t0001g0097 a0027c0093t0001g0096 a0018c0073t0001g0119 a0027c0092t0001g0097 a0027c0093t0001g0096	3	446	0.0067	48	c.646 others(63): Show c.646-506_646-459dupAAGAGGACGGGTCCAGCTCTGCACAGATGG GGTCTTGGGCCTGGGAGA	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	4/18			chr7	TogoVar
IQCG_chr3_197884077_197964991	197887683	G G	GGGGGCTG others(41): Show GGGGGCTGAGAGCCCCCCAGCAGAGCCCTTCCCATCACTGACAGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	173	0.0058	48	c.18 others(59): Show c.1849_*1896dupAGACACTGTCAGTGATGGGAAGGGCTCTGCTGGG GGGCTCTCAGCCCC	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		1393		chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	161	0.0062	48	c.690 others(65): Show c.690+9500_690+9501insAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCM_chr4_149346709_149820843	149368760	A A	ATATATAT others(41): Show ATATATATATACATATATATACACGTATATATATACATATATATACACG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01952.hp1 HG00639.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0144 a0001c0001t0001g0077 a0001c0001t0001g0144	2	226	0.0088	48	c.139 others(69): Show c.1391-16695_1391-16694insCGTGTATATATATGTATATATATA CGTGTATATATATGTATATATATA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQSEC1_chr3_12892043_13078429	12927380	C C	CCTGGTCC others(41): Show CCTGGTCCCTTCCCCACACAGGTGCATGCTCTAACTCCACCCAGGCTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18968.hp1 HG06807.hp2 NA18968.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0018 a0001c0001 a0015c0018	a0001c0001t0014 a0015c0018t0001 a0001c0001t0014 a0015c0018t0001	a0001c0001t0014g0200 a0015c0018t0001g0107 a0001c0001t0014g0200 a0015c0018t0001g0107	2	248	0.0081	48	c.156 others(67): Show c.1569-2686_1569-2639dupACAGCCTGGGTGGAGTTAGAGCATGC ACCTGTGTGGGGAAGGGACCAG	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	3/13			chr3	TogoVar
IQSEC1_chr3_12892043_13078429	12927446	T T	TAGGTGCA others(41): Show TAGGTGCATGCTCTAACTCCACCCAGGCTGTCTGGTCCCTTCCCCACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02698.hp2 HG03017.hp1 others(1): Show HG02602.hp1 HG02698.hp2 HG03017.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0024	a0001c0001t0002g0159 a0001c0001t0007g0239 a0001c0001t0013g0069 others(1): Show a0001c0001t0002g0159 a0001c0001t0007g0239 a0001c0001t0013g0069 a0001c0001t0024g0112	4	77	0.0519	48	c.156 others(67): Show c.1569-2705_1569-2704insGTGTGGGGAAGGGACCAGACAGCCTG GGTGGAGTTAGAGCATGCACCT	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	3/13			chr3	TogoVar
IQSEC3_chr12_61767_183455	78138	C C	CCCGCGCG others(41): Show CCCGCGCGGAGCGCCCCCCGCCGCCGCTGCCCGCTCCCACGCAGCCTGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0016 a0016	a0016c0057 a0016c0057	a0016c0057t0015 a0016c0057t0015	a0016c0057t0015g0274 a0016c0057t0015g0274	1	280	0.0036	48	c.554 others(67): Show c.554+10708_554+10709insGGAGCGCCCCCCGCCGCCGCTGCCCG CTCCCACGCAGCCTGGCCGCGC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0214 a0001c0002t0002g0214	1	167	0.0060	48	c.67+ others(65): Show c.67+13167_67+13168insCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0067 a0002c0003t0003g0067	1	167	0.0060	48	c.67+ others(65): Show c.67+13167_67+13168insCTTCCTTCCTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0189 a0001c0002t0003g0189	1	167	0.0060	48	c.67+ others(65): Show c.67+13167_67+13168insCTTCCTTCCTTCCTTCCTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680368	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0081 a0002c0003t0003g0081	1	167	0.0060	48	c.67+ others(65): Show c.67+13167_67+13168insCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCTTTCTTTCTTTCTTTC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(41): Show GCATGTGTGCGCGTGCGCGCGCGCACGCGCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG03654.hp2 HG00741.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0012 a0001c0002t0005 a0001c0002t0012	a0001c0002t0005g0364 a0001c0002t0012g0028 a0001c0002t0005g0364 a0001c0002t0012g0028	2	262	0.0076	48	c.-39 others(59): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCACGCGCACACA CACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(41): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18999.hp1 NA19012.hp1 NA18983.hp1 NA18999.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0246 a0001c0002t0004g0254 a0001c0002t0004g0268 a0001c0002t0004g0246 a0001c0002t0004g0254 a0001c0002t0004g0268	3	263	0.0114	48	c.-39 others(59): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCACACACA CACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(41): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA18906.hp1 HG02717.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0113 a0001c0001t0006g0110 a0001c0001t0006g0113	2	262	0.0076	48	c.-39 others(59): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCACA CACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(41): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0337 a0001c0001t0021g0337	1	261	0.0038	48	c.-39 others(59): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCA CACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(41): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0324 a0001c0001t0007g0324	1	261	0.0038	48	c.-39 others(59): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGCGCGCG CACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(41): Show GCATGTGTGTGCGTGCGCGCGCGCGCGCGCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0002 a0001c0001t0045g0002	1	261	0.0038	48	c.-39 others(59): Show c.-3996_-3995insCATGTGTGTGCGTGCGCGCGCGCGCGCGCGCGCG CACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(41): Show TACACACACACACATATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0135 a0002c0001t0002g0135	1	152	0.0066	48	c.109 others(65): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(41): Show TACACACACACACATATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0159 a0002c0001t0002g0159	1	152	0.0066	48	c.109 others(65): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATATGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRX6_chr16_55319203_55335756	55325479	T T	TAAGGAAG others(41): Show TAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	435	0.0023	48	c.45+ others(61): Show c.45+349_45+396dupAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRX6_chr16_55319203_55335756	55325482	G G	GGAAAGAA others(41): Show GGAAAGAAAGAAATAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0008 a0001c0001t0011g0008	1	433	0.0023	48	c.45+ others(61): Show c.45+349_45+350insAGAAAGAAATAAGGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGA11_chr15_68291532_68437163	68400885	A A	AAATATTA others(41): Show AAATATTATATTATATATTATATAATAAATATTATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0011 a0004c0013t0011	a0004c0013t0011g0183 a0004c0013t0011g0183	1	235	0.0043	48	c.164 others(65): Show c.164+2032_164+2033insATATATTATATAATATAATATTTATTAT ATAATATATAATATAATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGAM_chr16_31254975_31337877	31333578	A A	AAAATAAA others(41): Show AAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0102 a0003c0004t0005g0102	1	161	0.0062	48	c.18 others(59): Show c.1871_*1872insAAATAAAATAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		702		chr16	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406082	T T	TGTGTCAC others(41): Show TGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	273	0.0037	48	c.75 others(57): Show c.751_*752insTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCC ACTCAGTGACAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	751		chr2	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TCTTCTTT others(41): Show TCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0078 a0001c0008t0006g0078	1	298	0.0034	48	c.112 others(67): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAG	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04199.hp1 HG03453.hp1 HG04199.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0003 a0001c0001t0001 a0004c0005t0003	a0001c0001t0001g0235 a0004c0005t0003g0143 a0001c0001t0001g0235 a0004c0005t0003g0143	2	299	0.0067	48	c.112 others(67): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TGTATATA others(41): Show TGTATATATATATGTATATATATGTATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	6	0.1667	48	c.101 others(67): Show c.1015+6588_1015+6589insGTATATATATATGTATATATATGTAT ATATATATACACACACACACAC	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10			chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(41): Show TTTCTATATTATATTCTATATAATATTCTATATTATATTCTATATAATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0224 a0004c0005t0001g0224	1	282	0.0035	48	c.195 others(65): Show c.1958-825_1958-778dupATATTCTATATTATATTCTATATAATAT TCTATATTATATTCTATATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(41): Show TTTCTATATTATATTCTATATTATATTCTATATTATATTCTATATAATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18980.hp2 NA18950.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0199 a0001c0001t0001g0200	2	283	0.0071	48	c.195 others(65): Show c.1958-923_1958-922insTATATTCTATATTATATTCTATATAATA TTCTATATTATATTCTATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(41): Show TTTCTATATTATATTCTATATTATATTCTATATTATATTCTATATTATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	282	0.0035	48	c.195 others(65): Show c.1958-923_1958-922insTATATTCTATATTATATTCTATATTATA TTCTATATTATATTCTATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738176	T T	TATATTAT others(41): Show TATATTATATATTATATTCTATAAAATATTATATATTATATTCTATAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01358.hp2 others(14): Show HG00323.hp1 HG00558.hp1 HG01358.hp2 HG02300.hp2 HG03831.hp2 NA18952.hp1 NA18953.hp1 NA18970.hp2 NA18980.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19062.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0333	17	152	0.1118	48	c.195 others(65): Show c.1958-399_1958-398insAAATATTATATATTATATTCTATAAAAT ATTATATATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738176	T T	TATATTAT others(41): Show TATATTATATATTATATTCTATATAATATTATATATTATATTCTATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	136	0.0074	48	c.195 others(65): Show c.1958-423_1958-422insTAATATTATATATTATATTCTATATAAT ATTATATATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566755	A A	AACAGAGA others(41): Show AACAGAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0079 a0005c0079	a0005c0079t0004 a0005c0079t0004	a0005c0079t0004g0282 a0005c0079t0004g0282	1	336	0.0030	48	c.215 others(65): Show c.2150-349_2150-348insCCTCCTTCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCTCTGT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITM2C_chr2_230859942_230884248	230862615	T T	TATCACTT others(41): Show TATCACTTGTGAAAGACATTACTTAATCACTGCCAATTATAATTGTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	396	0.0025	48	c.-24 others(59): Show c.-2411_-2410insATCACTTGTGAAAGACATTACTTAATCACTGCCA ATTATAATTGTAAA	ITM2C	ENSG00000135916.16	transcript	ENST00000326427.11	protein_coding		2326		chr2	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(41): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG02738.hp1 others(1): Show HG01099.hp1 HG01346.hp2 HG02738.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0125 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0158	4	182	0.0220	48	c.130 others(67): Show c.1303-2619_1303-2572dupAACCTGGAGCTCAGGGGGGTGACCTG TGTGTGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067594	T T	TGCACACA others(41): Show TGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0230 a0001c0008t0002g0230	1	206	0.0049	48	c.130 others(67): Show c.1303-2587_1303-2586insGGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGGTGACCTGTGTGTGC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067662	A A	ACCCCCTG others(41): Show ACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCAC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	221	0.0045	48	c.130 others(67): Show c.1303-2702_1303-2655dupGTGACCTGTGTGTGCAGAAGAGCTTG AGTGAACCTGGAGCTCAGGGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar

Search by Variant

Search

Search Results