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
REM1_chr20_31470288_31489895	31470357	C C	CGGGGTGG others(13): Show CGGGGTGGCTGGCCGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02257.hp2 HG03654.hp1 HG01099.hp2 HG02257.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0023 a0001c0001t0001g0051	3	344	0.0087	20	c.-52 others(31): Show c.-5229_-5228insGGGGTGGCTGGCCGGGCGGG	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4930		chr20	TogoVar
REM1_chr20_31470288_31489895	31486401	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	344	0.0029	20	c.19 others(31): Show c.1971_*1972insAGAGAGAGAGAGAGAGAGAC	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		1507		chr20	TogoVar
REM2_chr14_22878222_22892678	22888998	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG00735.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	392	0.0051	20	c.20 others(31): Show c.2089_*2090insAAAAAAAAAAAAAAAAAAAA	REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding		1321		chr14	TogoVar
REPS1_chr6_138898493_138993253	138921976	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02056.hp1 HG03831.hp2 others(1): Show HG01192.hp1 HG02056.hp1 HG03831.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0022 a0002c0003t0004g0027 a0002c0003t0004g0030 others(1): Show a0002c0003t0004g0022 a0002c0003t0004g0027 a0002c0003t0004g0030 a0002c0003t0004g0037	4	390	0.0103	20	c.133 others(37): Show c.1339-872_1339-853dupACACACACACACACACACAC	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	10/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138955457	A A	AAAGTGTG others(13): Show AAAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	390	0.0026	20	c.154 others(37): Show c.154-7545_154-7544insACACACACACACACACACTT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138969269	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp2 NA18952.hp1 others(1): Show HG01943.hp1 HG01993.hp2 NA18952.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0244	4	390	0.0103	20	c.153 others(39): Show c.153+18241_153+18260dupAAAAAAAAAAAAAAAAAAAA	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(13): Show CCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG04228.hp1 HG01433.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0125 a0001c0001t0002g0116 a0001c0001t0002g0125	2	166	0.0121	20	c.908 others(37): Show c.908-2238_908-2237insCCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RER1_chr1_2386841_2410436	2401371	T T	TTCCTCCC others(13): Show TTCCTCCCTCCTCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	354	0.0028	20	c.365 others(35): Show c.365+458_365+477dupCCTCCCTCCTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401380	C C	CCTCCTCC others(13): Show CCTCCTCCCTCCTTCCTCCCT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	354	0.0028	20	c.365 others(35): Show c.365+457_365+458insTCCTCCCTCTCCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8372507	C C	CATGTGTG others(13): Show CATGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 HG02970.hp1 HG03139.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0006 a0003c0008t0001g0031	2	204	0.0098	20	c.128 others(39): Show c.1285-6534_1285-6533insACACACACACACACACACAT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8372507	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp1 HG01175.hp2 others(7): Show HG00609.hp2 HG01167.hp1 HG01175.hp2 HG02004.hp2 HG02080.hp1 HG02165.hp2 HG02257.hp1 HG02523.hp1 NA18983.hp2 NA19000.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0021 a0001c0001 a0001c0004 a0006c0021	a0001c0001t0001 a0001c0004t0001 a0001c0004t0010 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0010 a0001c0004t0022 a0006c0021t0003	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0004t0001g0049 a0001c0004t0010g0120 a0001c0004t0022g0121 a0006c0021t0003g0135	10	204	0.0490	20	c.128 others(39): Show c.1285-6553_1285-6534dupACACACACACACACACACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8383865	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA21309.hp2 HG03130.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0003 a0001c0002t0002 a0001c0004t0003	a0001c0002t0002g0157 a0001c0004t0003g0109 a0001c0002t0002g0157 a0001c0004t0003g0109	2	204	0.0098	20	c.128 others(41): Show c.1285-17911_1285-17892dupTATTTTATTTTATTTTATTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8400222	A A	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02970.hp1 HG03139.hp1 others(7): Show HG02155.hp2 HG02970.hp1 HG03139.hp1 HG04115.hp1 HG04184.hp2 NA18944.hp2 NA18983.hp2 NA19002.hp2 NA19005.hp2 NA19074.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0006 others(1): Show a0001c0001 a0001c0004 a0002c0006 a0003c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0030 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0030 a0001c0004t0001 a0002c0006t0003 a0002c0006t0024 a0003c0008t0001	a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0006g0181 others(7): Show a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0006g0181 a0001c0001t0030g0143 a0001c0004t0001g0003 a0002c0006t0003g0091 a0002c0006t0003g0094 a0002c0006t0003g0097 a0002c0006t0024g0081 a0003c0008t0001g0006	10	204	0.0490	20	c.128 others(41): Show c.1284+22504_1284+22505insCACACACACACACACACATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8401038	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18939.hp1 HG03195.hp1 NA18939.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0012 a0001c0003 a0004c0012	a0001c0003t0004 a0004c0012t0008 a0001c0003t0004 a0004c0012t0008	a0001c0003t0004g0041 a0004c0012t0008g0137 a0001c0003t0004g0041 a0004c0012t0008g0137	2	204	0.0098	20	c.128 others(41): Show c.1284+21669_1284+21688dupATATATATATATATATATAT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8401069	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02132.hp1 HG04115.hp1 others(2): Show HG01192.hp2 HG02132.hp1 HG04115.hp1 NA18944.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0006 a0002c0006t0003 a0001c0001t0001 a0001c0001t0006 a0002c0006t0003	a0001c0001t0001g0013 a0001c0001t0006g0181 a0002c0006t0003g0089 others(2): Show a0001c0001t0001g0013 a0001c0001t0006g0181 a0002c0006t0003g0089 a0002c0006t0003g0094 a0002c0006t0003g0097	5	204	0.0245	20	c.128 others(41): Show c.1284+21657_1284+21658insCATATATATATATATATATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8401069	A A	ATATATAT others(13): Show ATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0195 a0001c0001t0038g0195	1	204	0.0049	20	c.128 others(41): Show c.1284+21657_1284+21658insCATACATATATATATATATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01255.hp1 HG01358.hp2 others(2): Show HG00544.hp2 HG01255.hp1 HG01358.hp2 HG03688.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0009 others(1): Show a0001c0003 a0001c0007 a0001c0009 a0001c0018	a0001c0003t0004 a0001c0007t0001 a0001c0009t0004 others(1): Show a0001c0003t0004 a0001c0007t0001 a0001c0009t0004 a0001c0018t0001	a0001c0003t0004g0012 a0001c0003t0004g0014 a0001c0007t0001g0008 others(2): Show a0001c0003t0004g0012 a0001c0003t0004g0014 a0001c0007t0001g0008 a0001c0009t0004g0016 a0001c0018t0001g0005	5	204	0.0245	20	c.831 others(37): Show c.831-3359_831-3340dupAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0089 a0002c0006t0003g0089	1	204	0.0049	20	c.831 others(37): Show c.831-7572_831-7553dupTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8545982	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0014 a0001c0019t0014	a0001c0019t0014g0119 a0001c0019t0014g0119	1	204	0.0049	20	c.726 others(37): Show c.726-4684_726-4665dupAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	6/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01934.hp1 HG03225.hp1 HG00280.hp1 HG01934.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0005 a0001c0003t0008 a0001c0001t0001 a0001c0002t0005 a0001c0003t0008	a0001c0001t0001g0058 a0001c0002t0005g0129 a0001c0003t0008g0085 a0001c0001t0001g0058 a0001c0002t0005g0129 a0001c0003t0008g0085	3	204	0.0147	20	c.523 others(37): Show c.523-1777_523-1758dupTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8564826	A A	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01981.hp1 HG00544.hp2 HG01981.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0026 a0001c0003 a0002c0026	a0001c0003t0004 a0002c0026t0008 a0001c0003t0004 a0002c0026t0008	a0001c0003t0004g0012 a0002c0026t0008g0140 a0001c0003t0004g0012 a0002c0026t0008g0140	2	204	0.0098	20	c.523 others(37): Show c.523-7304_523-7303insCACACACACACACACACATA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8564826	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0030 a0001c0005t0019g0030	1	204	0.0049	20	c.523 others(37): Show c.523-7304_523-7303insCACACACACACACACACACA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0007 a0001c0011t0007	a0001c0011t0007g0027 a0001c0011t0007g0027	1	204	0.0049	20	c.522 others(37): Show c.522+7007_522+7026dupAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8617343	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0139 a0002c0006t0003g0139	1	204	0.0049	20	c.397 others(37): Show c.397-2658_397-2657insTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	3/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8668924	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0083 a0001c0004t0005g0083	1	204	0.0049	20	c.-14 others(41): Show c.-144-12503_-144-12484dupCACACACACACACACACACA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8669024	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02647.hp1 HG03041.hp2 others(1): Show HG00544.hp2 HG02647.hp1 HG03041.hp2 NA19009.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0008 a0001c0001 a0001c0003 a0003c0008	a0001c0001t0001 a0001c0003t0004 a0003c0008t0001 a0001c0001t0001 a0001c0003t0004 a0003c0008t0001	a0001c0001t0001g0070 a0001c0003t0004g0012 a0003c0008t0001g0071 others(1): Show a0001c0001t0001g0070 a0001c0003t0004g0012 a0003c0008t0001g0071 a0003c0008t0001g0072	4	204	0.0196	20	c.-14 others(41): Show c.-144-12603_-144-12584dupCACACACACACACACACACA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG01884.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0001t0003 a0001c0002t0005	a0001c0001t0003g0122 a0001c0002t0005g0128 a0001c0001t0003g0122 a0001c0002t0005g0128	2	204	0.0098	20	c.-14 others(41): Show c.-145+27858_-145+27859insATATATTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp1 HG01167.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0022 a0001c0004t0010 a0001c0004t0022	a0001c0004t0010g0120 a0001c0004t0022g0121 a0001c0004t0010g0120 a0001c0004t0022g0121	2	204	0.0098	20	c.-14 others(41): Show c.-145+27858_-145+27859insATATATATTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0039 a0008c0020t0039	a0008c0020t0039g0197 a0008c0020t0039g0197	1	204	0.0049	20	c.-14 others(41): Show c.-145+27858_-145+27859insATATATATATTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0108 a0001c0003t0011g0108	1	204	0.0049	20	c.-14 others(41): Show c.-145+27858_-145+27859insATATATATATATATATTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15126128	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02074.hp1 HG02080.hp2 others(7): Show HG01981.hp2 HG02074.hp1 HG02080.hp2 HG02523.hp2 HG03540.hp2 NA18975.hp1 NA19003.hp1 NA19066.hp1 NA19076.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0143 a0001c0001t0001g0171 a0001c0001t0001g0277 others(7): Show a0001c0001t0001g0143 a0001c0001t0001g0171 a0001c0001t0001g0277 a0001c0001t0002g0225 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0053 a0001c0002t0001g0169 a0001c0002t0001g0177 a0001c0002t0005g0033	10	300	0.0333	20	c.62- others(35): Show c.62-5029_62-5010dupATATATATATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG02486.hp2 others(10): Show HG00621.hp2 HG00735.hp1 HG02486.hp2 HG02896.hp1 HG02897.hp1 HG03516.hp1 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18981.hp2 NA19006.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0072 a0001c0001t0001g0125 a0001c0001t0001g0130 others(10): Show a0001c0001t0001g0072 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0236 a0001c0001t0001g0257 a0001c0001t0001g0290 a0001c0001t0003g0094 a0001c0001t0003g0163 a0001c0002t0001g0035 a0001c0002t0001g0057 a0001c0002t0001g0232 a0001c0002t0001g0270	13	300	0.0433	20	c.62- others(37): Show c.62-40039_62-40020dupCTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15161226	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAGAAAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	300	0.0033	20	c.62- others(37): Show c.62-40108_62-40107insGTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RESF1_chr12_31954415_31998107	31956080	C C	CTCTTTTT others(13): Show CTCTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0288 a0004c0004t0001g0288	1	452	0.0022	20	c.-37 others(31): Show c.-3753_-3752insTCTTTTTTTTTTTTTTTTTT	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3334		chr12	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18983.hp1 NA19075.hp1 HG00621.hp2 NA18983.hp1 NA19075.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0005c0005t0003 a0001c0001t0003 a0005c0005t0003	a0001c0001t0003g0188 a0005c0005t0003g0002 a0005c0005t0003g0066 a0001c0001t0003g0188 a0005c0005t0003g0002 a0005c0005t0003g0066	3	408	0.0074	20	c.-28 others(31): Show c.-2894_-2893insATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(13): Show TATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0265 a0012c0015t0001g0265	1	408	0.0025	20	c.-28 others(31): Show c.-2876_-2875insATATATATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
RETNLB_chr3_108750638_108762410	108756340	A A	AGGGAAAC others(13): Show AGGGAAACAAGAATGGGCAAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	452	0.0022	20	c.208 others(35): Show c.208+148_208+167dupCTTGCCCATTCTTGTTTCCC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding	2/2			chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759499	G G	GTATGTAT others(13): Show GTATGTATGTGTATGCATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01243.hp2 others(57): Show HG01069.hp2 HG01071.hp2 HG01243.hp2 HG01884.hp2 HG01952.hp1 HG01978.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03831.hp1 HG03831.hp2 NA18906.hp1 NA18939.hp1 NA18947.hp1 NA18952.hp1 NA18957.hp2 NA18961.hp2 NA18967.hp1 NA18970.hp1 NA18977.hp2 NA18979.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18999.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19066.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0003c0003t0001g0005 a0003c0003t0001g0014 a0001c0001t0001g0001 a0003c0003t0001g0005 a0003c0003t0001g0014	60	452	0.1327	20	c.-23 others(31): Show c.-2315_-2314insTGTATGCATACACATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2090		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759523	G G	GTATGTAT others(13): Show GTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 NA18522.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	452	0.0044	20	c.-23 others(31): Show c.-2339_-2338insTGTATGTATACACATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(13): Show CATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	20	c.-24 others(31): Show c.-2426_-2425insACACATACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759663	A A	ATATGTAT others(13): Show ATATGTATGTGTATACATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	20	c.-24 others(31): Show c.-2479_-2478insCGTATGTATACACATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2254		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759666	T T	TGTATGTA others(13): Show TGTATGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18993.hp1 NA18990.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	452	0.0044	20	c.-24 others(31): Show c.-2482_-2481insGTATGTATACACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2257		chr3	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02027.hp2 HG02155.hp1 others(10): Show HG02015.hp1 HG02027.hp2 HG02155.hp1 HG03209.hp2 HG03710.hp2 NA18522.hp2 NA18943.hp2 NA18959.hp1 NA18967.hp1 NA18972.hp2 NA18982.hp1 NA18990.hp1 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0002g0003 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0016 a0003c0003t0001g0001	13	458	0.0284	20	c.45 others(31): Show c.4510_*4511insTTTTTTTTTTTTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
RETREG1_chr5_16468053_16621997	16492199	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0231 a0001c0008t0007g0231	1	294	0.0034	20	c.459 others(37): Show c.459-8747_459-8728dupAGAGAGAGAGAGAGAGAGAG	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16492229	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG01891.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0003 a0001c0001t0010g0154 a0001c0001t0010g0003 a0001c0001t0010g0154	2	294	0.0068	20	c.459 others(37): Show c.459-8758_459-8757insTGTGTGTGTGAGAGAGAGAG	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16541739	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG03486.hp2 others(1): Show HG02258.hp2 HG03225.hp2 HG03486.hp2 HG04184.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0006	a0001c0001t0003 a0001c0004t0007 a0002c0003t0005 others(1): Show a0001c0001t0003 a0001c0004t0007 a0002c0003t0005 a0003c0006t0001	a0001c0001t0003g0176 a0001c0004t0007g0008 a0002c0003t0005g0171 others(1): Show a0001c0001t0003g0176 a0001c0004t0007g0008 a0002c0003t0005g0171 a0003c0006t0001g0072	4	294	0.0136	20	c.458 others(39): Show c.458+24004_458+24023dupTTCCTTCCTTCCTTCCTTCC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
REV1_chr2_99395477_99495017	99407080	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0080 a0003c0003t0001g0080	1	324	0.0031	20	c.244 others(37): Show c.2449-610_2449-591dupAAAAAAAAAAAAAAAAAAAA	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	15/22			chr2	TogoVar
REV3L_chr6_111294033_111488218	111408602	A A	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20129.hp2 HG02615.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0248 a0002c0002t0001g0154 a0002c0002t0001g0248	2	288	0.0069	20	c.404 others(37): Show c.404+2858_404+2877dupGTTTTGTTTTGTTTTGTTTT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	3/31			chr6	TogoVar
REXO5_chr16_20801527_20854665	20820512	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01261.hp2 HG02074.hp2 others(4): Show HG01169.hp2 HG01261.hp2 HG02074.hp2 NA18966.hp1 NA18988.hp1 NA18994.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0167 a0001c0001t0001g0199 others(4): Show a0001c0001t0001g0048 a0001c0001t0001g0167 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0227 a0001c0001t0001g0252	7	372	0.0188	20	c.476 others(37): Show c.476-1236_476-1217dupATATATATATATATATATAT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03139.hp1 HG00544.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0255 a0001c0002t0001g0263 a0001c0001t0001g0255 a0001c0002t0001g0263	2	372	0.0054	20	c.476 others(37): Show c.476-1217_476-1216insATATATATATATATATATTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results