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
RBFOX3_chr17_79084345_79616051	79356348	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	154	0.0065	-20	c.-17 others(41): Show c.-174-48544_-174-48525delAAAAAAAAAAAAAAAAAAAA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79430269	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0111 a0001c0001t0027g0111	1	154	0.0065	-20	c.-17 others(41): Show c.-175+52165_-175+52184delATTTATTTATTTATTTATTT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79442383	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0070 a0001c0001t0013g0070	1	154	0.0065	-20	c.-17 others(41): Show c.-175+40051_-175+40070delTTCTCTCTCTCTCTCTCTCT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79491131	AGGGAGGG others(13): Show AGGGAGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01109.hp2 others(3): Show HG00140.hp1 HG01106.hp2 HG01109.hp2 HG01346.hp2 HG03239.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 a0001c0002t0011 a0001c0005t0003	a0001c0001t0001g0013 a0001c0001t0001g0059 a0001c0001t0007g0062 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0059 a0001c0001t0007g0062 a0001c0001t0019g0038 a0001c0002t0011g0034 a0001c0005t0003g0075	6	154	0.0390	-20	c.-31 others(39): Show c.-319-8553_-319-8534delCTCCCCTCCCCTCCCCTCCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79499340	TTCCATCC others(13): Show TTCCATCCATCTATATATTCA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp2 HG02055.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0120 a0001c0001t0008g0113 a0001c0001t0002g0120 a0001c0001t0008g0113	2	154	0.0130	-20	c.-31 others(41): Show c.-319-16762_-319-16743delTGAATATATAGATGGATGGA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79550773	GTGGGTGG others(13): Show GTGGGTGGGTGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03492.hp1 HG03017.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0028 a0001c0001t0018g0049 a0001c0001t0001g0028 a0001c0001t0018g0049	2	154	0.0130	-20	c.-32 others(41): Show c.-320+60033_-320+60052delTCCATCCATCCACCCACCCA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBIS_chr8_85209048_85225374	85212847	CTGTTTGC others(13): Show CTGTTTGCAAAGTGGAAAACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-20	c.16 others(31): Show c.1693_*1712delTGTTTTCCACTTTGCAAACA	RBIS	ENSG00000176731.12	transcript	ENST00000619594.5	protein_coding		1200		chr8	TogoVar
RBM17_chr10_6084034_6122447	6085720	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG02965.hp1 others(4): Show HG01192.hp1 HG01243.hp1 HG02965.hp1 HG03239.hp2 NA18906.hp1 NA18994.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0018 a0001c0004t0012 a0001c0001t0001 a0001c0001t0018 a0001c0004t0012	a0001c0001t0001g0045 a0001c0001t0001g0133 a0001c0001t0001g0134 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0280 a0001c0001t0018g0126 a0001c0004t0012g0017 a0001c0004t0012g0127	7	434	0.0161	-20	c.-34 others(31): Show c.-3491_-3472delAAAGAAAGAAAGAAAGAAAG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3313		chr10	TogoVar
RBM17_chr10_6084034_6122447	6085751	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03225.hp2 HG04199.hp2 others(1): Show HG03139.hp2 HG03225.hp2 HG04199.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0030 a0001c0003t0003 others(1): Show a0001c0001t0003 a0001c0001t0030 a0001c0003t0003 a0001c0003t0017	a0001c0001t0003g0296 a0001c0001t0030g0059 a0001c0003t0003g0092 others(1): Show a0001c0001t0003g0296 a0001c0001t0030g0059 a0001c0003t0003g0092 a0001c0003t0017g0094	4	434	0.0092	-20	c.-34 others(31): Show c.-3460_-3441delGAAAGAAAGAAAGAAAGAAG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3282		chr10	TogoVar
RBM17_chr10_6084034_6122447	6085759	AGAAAGAA others(13): Show AGAAAGAAAGAAGGAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	434	0.0023	-20	c.-34 others(31): Show c.-3452_-3433delGAAAGAAAGAAGGAAAGAAG	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3274		chr10	TogoVar
RBM17_chr10_6084034_6122447	6085803	GGAAAGAA others(13): Show GGAAAGAAGGAAAGAAGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03041.hp2 NA19030.hp1 HG02615.hp2 HG03041.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0015 a0001c0001t0005 a0001c0002t0015	a0001c0001t0005g0228 a0001c0001t0005g0233 a0001c0002t0015g0049 a0001c0001t0005g0228 a0001c0001t0005g0233 a0001c0002t0015g0049	3	434	0.0069	-20	c.-34 others(31): Show c.-3408_-3389delGAAAGAAGGAAAGAAGGAAA	RBM17	ENSG00000134453.16	transcript	ENST00000379888.9	protein_coding		3230		chr10	TogoVar
RBM25_chr14_73053534_73128899	73094823	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG01261.hp2 others(5): Show HG00323.hp1 HG01168.hp2 HG01261.hp2 HG02735.hp1 HG03831.hp2 NA18944.hp2 NA19065.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0007 others(5): Show a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0012	8	388	0.0206	-20	c.544 others(37): Show c.544-2074_544-2055delGTCTGTGTGTGTGTGTGTGT	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73103897	GTCTGTCT others(13): Show GTCTGTCTGTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	388	0.0026	-20	c.115 others(37): Show c.1154+423_1154+442delGTCTGTCTCTCTCTCTCTCT	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73103905	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0238 a0001c0001t0010g0238	1	388	0.0026	-20	c.115 others(37): Show c.1154+452_1154+471delTCTCTCTCTCTCTCTCTCTC	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73103932	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0313 a0001c0001t0019g0313	1	388	0.0026	-20	c.115 others(37): Show c.1154+456_1154+475delTCTCTCTCTCTCTCTCACAC	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73103934	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02886.hp1 others(1): Show HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011	a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0007g0246 others(1): Show a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0007g0246 a0001c0001t0011g0048	4	388	0.0103	-20	c.115 others(37): Show c.1154+458_1154+477delTCTCTCTCTCTCTCACACAC	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73103936	TCTCTCTC others(13): Show TCTCTCTCTCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02602.hp1 HG02895.hp1 others(8): Show HG01243.hp2 HG02602.hp1 HG02895.hp1 HG03017.hp2 HG03516.hp2 HG03540.hp2 NA18944.hp1 NA18993.hp1 NA18993.hp2 NA19009.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0009	a0001c0001t0001g0120 a0001c0001t0001g0141 a0001c0001t0001g0187 others(8): Show a0001c0001t0001g0120 a0001c0001t0001g0141 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0014g0122 a0001c0001t0014g0188 a0001c0001t0014g0196 a0001c0002t0009g0284	11	388	0.0284	-20	c.115 others(37): Show c.1154+460_1154+479delTCTCTCTCTCTCACACACAC	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73103938	TCTCTCTC others(13): Show TCTCTCTCTCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG00735.hp2 others(9): Show HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01123.hp2 HG01175.hp2 HG02027.hp2 HG03017.hp1 HG04204.hp1 NA18612.hp1 NA18990.hp1 NA19068.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0129 others(9): Show a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0040g0134	12	388	0.0309	-20	c.115 others(37): Show c.1154+462_1154+481delTCTCTCTCTCACACACACAC	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73103940	TCTCTCTC others(13): Show TCTCTCTCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18985.hp1 HG04184.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0116 a0001c0001t0001g0118	2	388	0.0052	-20	c.115 others(37): Show c.1154+464_1154+483delTCTCTCTCACACACACACAC	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM25_chr14_73053534_73128899	73117210	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19011.hp1 NA19064.hp1 NA18980.hp2 NA19011.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0141	3	388	0.0077	-20	c.244 others(39): Show c.2440-2488_2440-2469delTTTTTTTTTTTTTTTTTTTT	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBM26_chr13_79313868_79411255	79372774	ATATAATT others(13): Show ATATAATTATATGATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0248 a0001c0002t0001g0248	1	328	0.0031	-20	c.328 others(35): Show c.328-864_328-845delATATATATCATATAATTATA	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
RBM28_chr7_128292685_128348908	128346636	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	382	0.0026	-20	c.-28 others(31): Show c.-2863_-2844delTATAGAGAGAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2729		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346638	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01346.hp2 HG00423.hp1 HG00621.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0232 a0001c0001t0002g0250 a0001c0001t0002g0001 a0001c0001t0002g0232 a0001c0001t0002g0250	3	382	0.0079	-20	c.-28 others(31): Show c.-2865_-2846delTATATAGAGAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2731		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346642	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01928.hp2 HG02572.hp1 others(7): Show HG01433.hp1 HG01928.hp2 HG02572.hp1 NA18954.hp1 NA18959.hp2 NA18983.hp1 NA19043.hp1 NA19058.hp2 NA19080.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0046 a0001c0001t0059	a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0088 others(7): Show a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0002g0218 a0001c0001t0003g0216 a0001c0001t0012g0031 a0001c0001t0014g0137 a0001c0001t0046g0269 a0001c0001t0059g0091	10	382	0.0262	-20	c.-28 others(31): Show c.-2869_-2850delTATATATATAGAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2735		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346644	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp1 NA19086.hp2 others(1): Show HG02486.hp2 HG02615.hp1 NA19086.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0092 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0092 a0002c0004t0006	a0001c0001t0001g0204 a0001c0001t0004g0191 a0001c0001t0092g0154 others(1): Show a0001c0001t0001g0204 a0001c0001t0004g0191 a0001c0001t0092g0154 a0002c0004t0006g0009	4	382	0.0105	-20	c.-28 others(31): Show c.-2871_-2852delTATATATATATAGAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2737		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346646	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02451.hp2 NA18952.hp1 others(2): Show HG00140.hp2 HG02451.hp2 NA18952.hp1 NA18969.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0076 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0076 a0001c0002t0110 a0001c0019t0003	a0001c0001t0002g0001 a0001c0001t0003g0078 a0001c0001t0076g0283 others(2): Show a0001c0001t0002g0001 a0001c0001t0003g0078 a0001c0001t0076g0283 a0001c0002t0110g0114 a0001c0019t0003g0300	5	382	0.0131	-20	c.-28 others(31): Show c.-2873_-2854delTATATATATATATAGAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2739		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346648	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01978.hp2 HG03831.hp1 others(3): Show HG00597.hp2 HG01978.hp2 HG03831.hp1 NA18954.hp2 NA18993.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0049 a0001c0001t0114	a0001c0001t0002g0219 a0001c0001t0002g0235 a0001c0001t0003g0029 others(3): Show a0001c0001t0002g0219 a0001c0001t0002g0235 a0001c0001t0003g0029 a0001c0001t0005g0163 a0001c0001t0049g0257 a0001c0001t0114g0215	6	382	0.0157	-20	c.-28 others(31): Show c.-2875_-2856delTATATATATATATATAGAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2741		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346650	CTCTATAT others(13): Show CTCTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19058.hp1 NA19005.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0100 a0001c0001t0019 a0001c0001t0100	a0001c0001t0019g0077 a0001c0001t0100g0108 a0001c0001t0019g0077 a0001c0001t0100g0108	2	382	0.0052	-20	c.-28 others(31): Show c.-2877_-2858delTATATATATATATATATAGA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2743		chr7	TogoVar
RBM28_chr7_128292685_128348908	128346652	CTATATAT others(13): Show CTATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01517.hp2 NA18970.hp2 others(2): Show HG00438.hp2 HG01517.hp2 NA18970.hp2 NA19078.hp1 NA20805.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0013c0014 a0014c0015 a0001c0001 a0013c0014 a0014c0015	a0001c0001t0001 a0001c0001t0048 a0001c0001t0088 others(2): Show a0001c0001t0001 a0001c0001t0048 a0001c0001t0088 a0013c0014t0065 a0014c0015t0120	a0001c0001t0001g0101 a0001c0001t0048g0266 a0001c0001t0088g0207 others(2): Show a0001c0001t0001g0101 a0001c0001t0048g0266 a0001c0001t0088g0207 a0013c0014t0065g0138 a0014c0015t0120g0206	5	382	0.0131	-20	c.-28 others(31): Show c.-2879_-2860delTATATATATATATATATATA	RBM28	ENSG00000106344.8	transcript	ENST00000223073.6	protein_coding		2745		chr7	TogoVar
RBM33_chr7_155639661_155786480	155724990	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp2 NA19074.hp2 HG02976.hp2 HG03209.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0081 a0001c0002t0082 a0002c0001t0003 a0001c0002t0081 a0001c0002t0082 a0002c0001t0003	a0001c0002t0081g0089 a0001c0002t0082g0088 a0002c0001t0003g0016 a0001c0002t0081g0089 a0001c0002t0082g0088 a0002c0001t0003g0016	3	306	0.0098	-20	c.126 others(39): Show c.1260+6575_1260+6594delGTGTGTGTGTGTGTGTGTGT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM34_chr1_235126183_235166250	235155816	CATATACA others(13): Show CATATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	388	0.0026	-20	c.366 others(35): Show c.366-724_366-705delATATATATATATATGTATAT	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10			chr1	TogoVar
RBM47_chr4_40418280_40634864	40423652	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp2 HG02717.hp2 NA19074.hp1 HG01071.hp2 HG02717.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0039 a0001c0001t0055 a0001c0004t0039 a0001c0001t0039 a0001c0001t0055 a0001c0004t0039	a0001c0001t0039g0051 a0001c0001t0055g0163 a0001c0004t0039g0087 a0001c0001t0039g0051 a0001c0001t0055g0163 a0001c0004t0039g0087	3	278	0.0108	-20	c.22 others(31): Show c.2232_*2251delGAAAGAAAGAAAGAAAGAAA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	7/7	2232		chr4	TogoVar
RBM47_chr4_40418280_40634864	40443717	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0096 a0001c0011t0096	a0001c0011t0096g0100 a0001c0011t0096g0100	1	278	0.0036	-20	c.-31 others(37): Show c.-31-4813_-31-4794delTTTTTTTTTTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	3/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40596379	GTGCAGGC others(13): Show GTGCAGGCACATGTACCTATA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0164 a0001c0003t0014g0164	1	278	0.0036	-20	c.-24 others(41): Show c.-240+32997_-240+33016delTATAGGTACATGTGCCTGCA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM6_chr3_49935150_50082249	49969469	ATATATAT others(13): Show ATATATATATGAATATATATG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	218	0.0046	-20	c.132 others(37): Show c.1323+741_1323+760delGTATATATATGAATATATAT	RBM6	ENSG00000004534.15	transcript	ENST00000266022.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBM6_chr3_49935150_50082249	49984611	ACATCGCA others(13): Show ACATCGCATCGCATCGCATCG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01099.hp1 others(9): Show HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01255.hp2 HG01516.hp1 HG01517.hp2 HG01981.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02723.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(9): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0200 a0001c0002t0001g0206 a0001c0002t0001g0214 a0001c0002t0001g0215	12	218	0.0551	-20	c.148 others(39): Show c.1483+9253_1483+9272delCGCATCGCATCGCATCGCAT	RBM6	ENSG00000004534.15	transcript	ENST00000266022.9	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS1_chr2_160267151_160498807	160426274	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0150 a0001c0001t0024g0150	1	328	0.0031	-20	c.76- others(37): Show c.76-58903_76-58884delCTTTTCTTTCTTTCTTTCTT	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29295285	ATATATAT others(13): Show ATATATATATACATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01071.hp1 others(21): Show HG00140.hp2 HG00280.hp2 HG01071.hp1 HG01169.hp1 HG01261.hp1 HG01981.hp2 HG02451.hp1 HG02630.hp2 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03453.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp2 NA18982.hp1 NA18994.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(20): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0044 a0001c0001t0052 a0001c0001t0060 a0001c0001t0061 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0002t0005 a0001c0002t0018 a0001c0002t0034 a0001c0002t0039 a0001c0002t0046 a0001c0002t0053	a0001c0001t0001g0047 a0001c0001t0008g0079 a0001c0001t0013g0006 others(21): Show a0001c0001t0001g0047 a0001c0001t0008g0079 a0001c0001t0013g0006 a0001c0001t0018g0061 a0001c0001t0021g0108 a0001c0001t0022g0012 a0001c0001t0022g0093 a0001c0001t0044g0062 a0001c0001t0052g0024 a0001c0001t0060g0014 a0001c0001t0061g0002 a0001c0001t0073g0070 a0001c0001t0075g0060 a0001c0001t0076g0088 a0001c0001t0080g0033 a0001c0001t0082g0032 a0001c0001t0083g0019 a0001c0001t0085g0015 a0001c0002t0005g0007 a0001c0002t0018g0059 a0001c0002t0034g0114 a0001c0002t0039g0091 a0001c0002t0046g0107 a0001c0002t0053g0011	24	116	0.2069	-20	c.75+ others(37): Show c.75+13549_75+13568delCTATATATATACATATATAT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29559510	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0052 a0001c0001t0065g0052	1	116	0.0086	-20	c.308 others(39): Show c.308-27580_308-27561delAAAAAAAAAAAAAAAAAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29654521	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0006 a0001c0001t0013g0006	1	116	0.0086	-20	c.399 others(39): Show c.399+67349_399+67368delGTGTGTGTGTGTGTGTGTGT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29760270	TACACACA others(13): Show TACACACACACACCCCTACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp2 HG02976.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0089 a0001c0001t0015g0029 a0001c0001t0003g0089 a0001c0001t0015g0029	2	116	0.0172	-20	c.558 others(37): Show c.558-2622_558-2603delCACACACACACACACCCCTA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29820188	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG02976.hp1 others(1): Show HG01261.hp1 HG01891.hp1 HG02976.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0021 a0001c0001t0069 others(1): Show a0001c0001t0015 a0001c0001t0021 a0001c0001t0069 a0001c0001t0073	a0001c0001t0015g0029 a0001c0001t0021g0034 a0001c0001t0069g0001 others(1): Show a0001c0001t0015g0029 a0001c0001t0021g0034 a0001c0001t0069g0001 a0001c0001t0073g0070	4	116	0.0345	-20	c.638 others(39): Show c.638-48635_638-48616delAAAAAAAAAAAAAAAAAAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMX2_chrX_130396987_130418656	130405833	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18981.hp2 NA18989.hp1 others(4): Show NA18970.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0011 a0001c0001t0007g0011 a0001c0001t0001g0011 a0001c0001t0007g0011	7	305	0.0230	-20	c.173 others(37): Show c.173+2000_173+2019delTTTTTTTTTTTTTTTTTTTT	RBMX2	ENSG00000134597.17	transcript	ENST00000305536.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBP1_chr3_139512438_139544742	139538339	TCCTCCTT others(13): Show TCCTCCTTTCTTTTCTTTTAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp1 HG02257.hp1 others(3): Show HG01123.hp1 HG01496.hp1 HG02257.hp1 HG02630.hp2 HG03209.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0049	6	356	0.0169	-20	c.438 others(35): Show c.438+422_438+441delGTAAAAGAAAAGAAAGGAGG	RBP1	ENSG00000114115.11	transcript	ENST00000672186.1	protein_coding	2/3			chr3	TogoVar
RBP5_chr12_7118686_7133889	7126510	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 HG03130.hp1 others(2): Show HG02965.hp2 HG03041.hp1 HG03130.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	5	424	0.0118	-20	c.252 others(37): Show c.252+1710_252+1729delACACACACACACACACACAC	RBP5	ENSG00000139194.8	transcript	ENST00000266560.8	protein_coding	2/3			chr12	TogoVar
RBPMS_chr8_30379541_30577256	30410143	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0005 a0001c0001t0017g0005	1	304	0.0033	-20	c.66+ others(37): Show c.66+25014_66+25033delACACACACACACACACACAC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30517189	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0272 a0001c0001t0010g0272	1	304	0.0033	-20	c.397 others(39): Show c.397+12783_397+12802delTGTGTGTGTGTGTGTGTGTG	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBSN_chr3_15065073_15104148	15078775	AATACATA others(13): Show AATACATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	360	0.0028	-20	c.912 others(35): Show c.912-634_912-615delATATATATATATATATGTAT	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	10/13			chr3	TogoVar
RBSN_chr3_15065073_15104148	15078779	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01993.hp2 NA18961.hp2 others(1): Show HG01496.hp1 HG01993.hp2 NA18961.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0066 a0001c0001t0008g0191 a0001c0001t0008g0022 a0001c0001t0008g0066 a0001c0001t0008g0191	4	360	0.0111	-20	c.912 others(35): Show c.912-638_912-619delATATATATATATATATATAT	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	10/13			chr3	TogoVar
RC3H1_chr1_173926084_174027357	173985636	ATTTTAAA others(13): Show ATTTTAAATAAAATCTACTCT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0180 a0001c0001t0053g0180	1	310	0.0032	-20	c.232 others(37): Show c.232-1037_232-1018delAGAGTAGATTTTATTTAAAA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	2/19			chr1	TogoVar

Search by Variant

Search

Search Results