Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBFOX3_chr17_79084345_79616051	79151527	G G	GGGACCTG others(31): Show GGGACCTGCAGGGGGAGGAGGGGAGGCGAGGATGGGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	154	0.0065	38	c.-33 others(57): Show c.-33-35780_-33-35779insTCTCCCATCCTCGCCTCCCCTCCTCC CCCTGCAGGTCC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79151661	C C	CGAGGATG others(31): Show CGAGGATGGGAGGGGACCTGCAGGGGGAGGAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02109.hp1 HG02129.hp1 others(5): Show HG01346.hp1 HG02109.hp1 HG02129.hp1 HG02451.hp1 HG02723.hp2 HG02818.hp2 HG03492.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0002g0132 a0001c0001t0003g0014 others(5): Show a0001c0001t0001g0071 a0001c0001t0002g0132 a0001c0001t0003g0014 a0001c0001t0006g0119 a0001c0001t0016g0019 a0001c0001t0018g0049 a0001c0002t0001g0079 a0001c0002t0002g0134	8	154	0.0520	38	c.-33 others(57): Show c.-33-35914_-33-35913insACCTCCCCTCCTCCCCCTGCAGGTCC CCTCCCATCCTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79151734	C C	CGATGGGA others(31): Show CGATGGGAGGGGACCTGCAGGGGGAGAAGGGGAGACGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG01081.hp2 others(13): Show HG00423.hp1 HG00558.hp1 HG01081.hp2 HG01255.hp1 HG01346.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 NA18747.hp1 NA18945.hp2 NA18952.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0029 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0002g0138 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0003g0014 a0001c0001t0003g0032 a0001c0001t0003g0085 a0001c0001t0005g0137 a0001c0001t0009g0088 a0001c0001t0012g0023 a0001c0001t0022g0141 a0001c0002t0001g0079 a0001c0002t0002g0139 a0001c0002t0002g0145	16	154	0.1039	38	c.-33 others(57): Show c.-33-35987_-33-35986insCTCGTCTCCCCTTCTCCCCCTGCAGG TCCCCTCCCATC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79203324	T T	TGAAGGGG others(31): Show TGAAGGGGCATGTAAGGACTGTGGGGGTGGGTGGAGGGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG02615.hp1 others(7): Show HG00639.hp2 HG01884.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG03486.hp1 NA18906.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0021	a0001c0001t0002g0108 a0001c0001t0002g0131 a0001c0001t0002g0148 others(7): Show a0001c0001t0002g0108 a0001c0001t0002g0131 a0001c0001t0002g0148 a0001c0001t0004g0090 a0001c0001t0004g0115 a0001c0001t0004g0122 a0001c0001t0004g0133 a0001c0001t0005g0107 a0001c0001t0008g0096 a0001c0001t0021g0026	10	154	0.0649	38	c.-34 others(57): Show c.-34+32441_-34+32442insGCCCTCCACCCACCCCCACAGTCCTT ACATGCCCCTTC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0107	1	154	0.0065	38	c.-66 others(47): Show c.-669_-668insAGAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGA GA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0121	1	154	0.0065	38	c.-66 others(47): Show c.-669_-668insAGAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGA GA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	154	0.0065	38	c.-66 others(47): Show c.-669_-668insAGAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGAGA GA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0096 a0001c0001t0008g0096	1	154	0.0065	38	c.-66 others(47): Show c.-669_-668insAGAGAGAGAAGGAGGGCGGAGAGAGAGAGAGAGAGA GA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611174	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCCGCCCTCCTTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG03453.hp1 HG01261.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0142 a0001c0001t0008g0130 a0001c0001t0005g0142 a0001c0001t0008g0130	2	154	0.0130	38	c.-66 others(47): Show c.-669_-668insAGAGAGAAGGAGGGCGGAGAGAGAGAGAGAGAGAGA GA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		124		chr17	TogoVar
RBKS_chr2_27776379_27895387	27789949	G G	GTATATAT others(31): Show GTATATATATATATATATATATGTATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	268	0.0037	38	c.796 others(55): Show c.796-8162_796-8161insTATATATACACATATACATATATATATA TATATATATA	RBKS	ENSG00000171174.15	transcript	ENST00000302188.8	protein_coding	7/7			chr2	TogoVar
RBL1_chr20_36991349_37100997	37002336	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0339 a0001c0001t0002g0339	1	354	0.0028	38	c.303 others(57): Show c.3036+1365_3036+1366insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	RBL1	ENSG00000080839.12	transcript	ENST00000373664.8	protein_coding	21/21			chr20	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(31): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0175 a0001c0003t0003g0175	1	276	0.0036	38	c.118 others(57): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0001 a0011c0036t0001	a0011c0036t0001g0131 a0011c0036t0001g0131	1	356	0.0028	38	c.255 others(59): Show c.2559-20551_2559-20550insGTATGTATATATATATATATATAT ATATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19091.hp1 HG02015.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0132 a0001c0001t0002g0133	2	356	0.0056	38	c.255 others(59): Show c.2559-20551_2559-20550insGTGTATATATATATATATATATAT ATATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM19_chr12_113817057_113971325	113879446	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18961.hp2 NA18962.hp1 others(1): Show NA18951.hp2 NA18961.hp2 NA18962.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0089 a0001c0001t0002g0297 others(1): Show a0001c0001t0002g0039 a0001c0001t0002g0089 a0001c0001t0002g0297 a0001c0001t0002g0298	4	356	0.0112	38	c.255 others(59): Show c.2559-20551_2559-20550insGTATATATATATATATATATATAT ATATATATATATAT	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RBM24_chr6_17276361_17298871	17295021	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01993.hp2 HG01256.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0001 a0001c0001t0001g0110	2	442	0.0045	38	c.29 others(49): Show c.2902_*2903insTATATATATATATATATATATATATATATATATA TATA	RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding		1151		chr6	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(31): Show GTTGTTGTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0245 a0002c0001t0004g0245	1	306	0.0033	38	c.171 others(55): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM34_chr1_235126183_235166250	235155837	A A	ATATATAT others(31): Show ATATATATATATATACATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	388	0.0026	38	c.366 others(53): Show c.366-726_366-725insCGTATATATATATATATATATATGTATATA TATATATA	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10			chr1	TogoVar
RBM34_chr1_235126183_235166250	235155839	A A	ATATATAT others(31): Show ATATATATATATACATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0213 a0001c0001t0001g0165 a0001c0001t0001g0213	2	388	0.0052	38	c.366 others(53): Show c.366-728_366-727insCGTATATATATATATATATATATATGTATA TATATATA	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	3/10			chr1	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02148.hp2 HG00738.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0161 a0001c0001t0007g0116 a0001c0001t0007g0161	2	278	0.0072	38	c.112 others(55): Show c.1124-443_1124-442insATATATATATATATATATATATTTTTTT TTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0231 a0001c0001t0115g0231	1	278	0.0036	38	c.112 others(55): Show c.1124-443_1124-442insATATATATATATATATATATATATTTTT TTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0064 a0002c0002t0064	a0002c0002t0064g0123 a0002c0002t0064g0123	1	278	0.0036	38	c.112 others(55): Show c.1124-443_1124-442insATATATATATATATATATATATATATTT TTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40498054	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03491.hp1 HG03492.hp1 HG01192.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0051 a0001c0001t0022 a0001c0001t0051	a0001c0001t0022g0211 a0001c0001t0022g0212 a0001c0001t0051g0249 a0001c0001t0022g0211 a0001c0001t0022g0212 a0001c0001t0051g0249	3	278	0.0108	38	c.-15 others(59): Show c.-154-31356_-154-31355insTATATATATATATATATATATATA TATATATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0080 a0001c0004t0011g0080	1	278	0.0036	38	c.-23 others(59): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS3_chr3_29276071_30015386	29779706	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02698.hp2 HG01515.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0044 a0001c0001t0019 a0001c0001t0044	a0001c0001t0019g0055 a0001c0001t0044g0062 a0001c0001t0019g0055 a0001c0001t0044g0062	2	116	0.0172	38	c.637 others(57): Show c.637+16736_637+16737insTATATATATATATATATATATATATA TATATATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29962551	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0108 a0001c0001t0021g0108	1	116	0.0086	38	c.109 others(59): Show c.1098+18314_1098+18315insTATATATATATATATATATATATA TATATATATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29975006	T T	TTATATAT others(31): Show TTATATATTTTATATATAAAATACGTTTCTATATTTATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG01361.hp1 others(4): Show HG01071.hp2 HG01106.hp2 HG01361.hp1 HG01981.hp1 HG03834.hp1 NA18982.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0035 a0001c0001t0071 others(3): Show a0001c0001t0004 a0001c0001t0035 a0001c0001t0071 a0001c0002t0004 a0001c0002t0005 a0001c0002t0050	a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0035g0105 others(4): Show a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0035g0105 a0001c0001t0071g0080 a0001c0002t0004g0092 a0001c0002t0005g0007 a0001c0002t0050g0025	7	116	0.0603	38	c.109 others(59): Show c.1099-13134_1099-13133insATATTTTATATATAAAATACGTTT CTATATTTATATAT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02630.hp1 HG02895.hp1 others(2): Show HG01106.hp2 HG02630.hp1 HG02895.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0048	5	446	0.0112	38	c.-11 others(49): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30445649	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19057.hp2 NA19081.hp1 NA18994.hp2 NA19057.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0024 a0001c0001t0001 a0001c0001t0003 a0001c0001t0024	a0001c0001t0001g0019 a0001c0001t0003g0195 a0001c0001t0024g0010 a0001c0001t0001g0019 a0001c0001t0003g0195 a0001c0001t0024g0010	3	304	0.0099	38	c.67- others(55): Show c.67-29104_67-29103insATATATATATATATATATATATATATAT ATATATATAT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549772	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0005 a0001c0001t0017g0005	1	304	0.0033	38	c.528 others(55): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549793	T T	TCTCTCTC others(31): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	304	0.0033	38	c.528 others(55): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCCCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02976.hp1 HG03017.hp2 others(3): Show HG00642.hp1 HG02976.hp1 HG03017.hp2 NA18984.hp2 NA19084.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0002g0031 a0001c0001t0003g0125 a0001c0001t0004g0066	6	158	0.0380	38	c.225 others(57): Show c.225+89729_225+89730insATATATATATATATATATATATATAT ATATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCBTB2_chr13_48483963_48538080	48527351	T T	TATCATAT others(31): Show TATCATATATATATATGATATATATATATGATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0275 a0001c0007t0001g0275	1	320	0.0031	38	c.-21 others(57): Show c.-218-2595_-218-2594insTATATATATCATATATATATATCATA TATATATATGAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	390	0.0026	38	c.286 others(55): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATATATTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487528	A A	AATATATA others(31): Show AATATATATATATTCATAATATATATATTCATAATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	406	0.0025	38	c.657 others(55): Show c.657+3052_657+3053insATATATTATGAATATATATATTATGAAT ATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487554	A A	AATATATA others(31): Show AATATATATATATTCATAATATATATATTCATAATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	406	0.0025	38	c.657 others(55): Show c.657+3026_657+3027insATATATTATGAATATATATATTATGAAT ATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167667103	C C	CCATTGTA others(31): Show CCATTGTAGCTGAGTAGGCTTCAAGGGAGGGGGCCGCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp1 NA19043.hp1 HG01891.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0044 a0001c0001t0053 a0001c0001t0003 a0001c0001t0044 a0001c0001t0053	a0001c0001t0003g0306 a0001c0001t0044g0217 a0001c0001t0053g0096 a0001c0001t0003g0306 a0001c0001t0044g0217 a0001c0001t0053g0096	3	350	0.0086	38	c.7-1 others(53): Show c.7-16763_7-16726dupCGCCTCATTGTAGCTGAGTAGGCTTCAAGG GAGGGGGC	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0283 a0001c0001t0009g0283	1	376	0.0027	38	c.-65 others(55): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
REEP6_chr19_1486181_1502927	1493708	G G	GACACACA others(31): Show GACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	318	0.0031	38	c.116 others(55): Show c.116-1562_116-1561insACACACACACACACACACACACACACAC ACACACACAC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
REEP6_chr19_1486181_1502927	1499701	C C	CAGACGCT others(31): Show CAGACGCTCCTCACTTCCTAGATGGGATGGCAGCCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02486.hp2 others(8): Show HG01884.hp1 HG02257.hp1 HG02486.hp2 HG02647.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0116 others(5): Show a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0116 a0001c0001t0002g0150 a0001c0003t0002g0012 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0049	11	318	0.0346	38	c.24 others(49): Show c.2490_*2491insAGACGCTCCTCACTTCCTAGATGGGATGGCAGCC GGGA	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1775		chr19	TogoVar
RELCH_chr18_62182255_62315249	62249252	A A	ATTTTATT others(31): Show ATTTTATTTTAAAATAAAATATTTTATATTTTAAAATAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0323 a0001c0003t0005g0323	1	340	0.0029	38	c.173 others(57): Show c.1734-3412_1734-3411insTTTTATTTTAAAATAAAATATTTTAT ATTTTAAAATAC	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	11/28			chr18	TogoVar
REPS1_chr6_138898493_138993253	138947035	G G	GCTCTCTC others(31): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	390	0.0026	38	c.277 others(53): Show c.277+717_277+754dupAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	2/19			chr6	TogoVar
RERE_chr1_8347404_8822640	8347449	T T	TTGGGGGT others(31): Show TTGGGGGTTGGGCGGGGGTGCGAGGGAGGTGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0176 a0001c0002t0002g0176	1	204	0.0049	38	c.76 others(49): Show c.7637_*7638insCCCCCCCCCACCTCCCTCGCACCCCCGCCCAACC CCCA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding		4954		chr1	TogoVar
RERE_chr1_8347404_8822640	8372507	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0002 a0001c0002t0018g0002	1	204	0.0049	38	c.128 others(57): Show c.1285-6534_1285-6533insACACACACACACACACACACACACAC ACACACACACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(31): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0133 a0001c0002t0028g0133	1	204	0.0049	38	c.831 others(55): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0030 a0001c0005t0019g0030	1	204	0.0049	38	c.523 others(55): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15133146	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	300	0.0033	38	c.62- others(55): Show c.62-12028_62-12027insATATATATATATATATATATATATATAT ATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15143366	A A	AATATATA others(31): Show AATATATACACACATGTGTGTTTATATAATGTATATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03195.hp2 HG03225.hp2 HG02886.hp1 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0098 a0001c0001t0001g0252 a0001c0001t0001g0077 a0001c0001t0001g0098 a0001c0001t0001g0252	3	300	0.0100	38	c.62- others(55): Show c.62-22285_62-22248dupAATATATACATTATATAAACACACATGT GTGTATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02486.hp2 HG03834.hp1 others(1): Show HG01255.hp2 HG02486.hp2 HG03834.hp1 NA18973.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0004c0004t0005	a0001c0001t0003g0002 a0001c0001t0006g0175 a0001c0001t0011g0037 others(1): Show a0001c0001t0003g0002 a0001c0001t0006g0175 a0001c0001t0011g0037 a0004c0004t0005g0168	4	408	0.0098	38	c.-28 others(49): Show c.-2894_-2893insATATATATATATATATATATATATATATATATAT ATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG01358.hp1 others(15): Show HG00323.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp2 HG02027.hp1 HG02293.hp2 HG02698.hp2 HG02723.hp2 HG03239.hp1 NA18906.hp1 NA18942.hp1 NA18962.hp1 NA18989.hp1 NA18999.hp1 NA19002.hp2 NA19080.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0002c0002t0001 a0002c0002t0007 others(3): Show a0001c0001t0004 a0002c0002t0001 a0002c0002t0007 a0002c0002t0014 a0002c0002t0015 a0003c0003t0002	a0001c0001t0004g0076 a0001c0001t0004g0086 a0002c0002t0001g0045 others(15): Show a0001c0001t0004g0076 a0001c0001t0004g0086 a0002c0002t0001g0045 a0002c0002t0001g0228 a0002c0002t0001g0244 a0002c0002t0001g0251 a0002c0002t0001g0255 a0002c0002t0001g0287 a0002c0002t0001g0309 a0002c0002t0007g0011 a0002c0002t0007g0048 a0002c0002t0007g0269 a0002c0002t0007g0298 a0002c0002t0014g0227 a0002c0002t0015g0238 a0003c0003t0002g0001 a0003c0003t0002g0060 a0003c0003t0002g0140	18	408	0.0441	38	c.-28 others(49): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar

Search by Variant

Search

Search Results (Total: 5880 hits)