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 (≤).

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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
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG06807.hp1 HG02486.hp1 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0008 a0004c0004 a0004c0008	a0004c0004t0026 a0004c0008t0009 a0004c0004t0026 a0004c0008t0009	a0004c0004t0026g0196 a0004c0008t0009g0039 a0004c0004t0026g0196 a0004c0008t0009g0039	2	408	0.0049	38	c.-28 others(49): Show c.-2875_-2874insTATATATATATATATATATATATATATATATATA TATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RFC1_chr4_39282456_39371362	39288884	T T	TTATGAGT others(31): Show TTATGAGTAAATGAAATAAGTTCATCTCTATAACAAATC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA21309.hp1 HG03225.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0261 a0001c0001t0001g0262	2	276	0.0073	38	c.336 others(53): Show c.3361-78_3361-41dupGATTTGTTATAGAGATGAACTTATTTCATT TACTCATA	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	24/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18972.hp1 HG03834.hp2 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0139 a0001c0002t0002g0126 a0001c0002t0002g0139	2	276	0.0073	38	c.332 others(55): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	416	0.0024	38	c.810 others(53): Show c.810-817_810-816insATATATATATATATATATATATATATATAC ACATACAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18961.hp1 NA18968.hp1 others(5): Show HG02300.hp2 NA18961.hp1 NA18968.hp1 NA18968.hp2 NA19011.hp1 NA19066.hp2 NA19074.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0028 a0001c0002t0003 others(1): Show a0001c0001t0006 a0001c0001t0028 a0001c0002t0003 a0001c0002t0010	a0001c0001t0006g0171 a0001c0001t0006g0175 a0001c0001t0006g0177 others(5): Show a0001c0001t0006g0171 a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0028g0176 a0001c0002t0003g0170 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0010g0172	8	388	0.0206	38	c.207 others(53): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT CTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTGTTTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0226 a0001c0001t0005g0226	1	388	0.0026	38	c.207 others(53): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTGTTTCTCT CTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0242 a0003c0007t0002g0242	1	268	0.0037	38	c.442 others(55): Show c.442-9506_442-9469dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16403590	A A	ATATATAA others(31): Show ATATATAATATATAATATATATATAATATATATTTTATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04228.hp2 NA18994.hp2 others(1): Show HG00735.hp1 HG04228.hp2 NA18994.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0003 a0001c0002t0002 a0002c0003t0003	a0001c0002t0002g0063 a0001c0002t0002g0119 a0001c0002t0002g0266 others(1): Show a0001c0002t0002g0063 a0001c0002t0002g0119 a0001c0002t0002g0266 a0002c0003t0003g0043	4	268	0.0149	38	c.441 others(55): Show c.441+5747_441+5784dupCATAAAATATATATTATATATATATTAT ATATTATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(31): Show TATATATATATATATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0134	1	268	0.0037	38	c.333 others(55): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTATATAT ATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197616268	C C	CATTTTAT others(31): Show CATTTTATTTATTTTATTTTTTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01070.hp1 others(31): Show HG00099.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01891.hp1 HG02145.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG03453.hp2 HG03710.hp1 HG04228.hp1 HG06807.hp1 NA18940.hp2 NA18944.hp2 NA18966.hp1 NA18971.hp2 NA18980.hp2 NA18984.hp1 NA18997.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017	a0001c0001t0002g0083 a0001c0001t0002g0114 a0001c0001t0002g0120 others(31): Show a0001c0001t0002g0083 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0137 a0001c0001t0002g0202 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0179 a0001c0001t0005g0080 a0001c0001t0005g0088 a0001c0001t0005g0106 a0001c0001t0005g0108 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0005g0129 a0001c0001t0005g0138 a0001c0001t0005g0151 a0001c0001t0005g0180 a0001c0001t0005g0187 a0001c0001t0007g0082 a0001c0001t0011g0059 a0001c0001t0012g0142 a0001c0001t0016g0124 a0001c0001t0016g0126 a0001c0001t0017g0146 a0001c0001t0017g0147	34	312	0.1090	38	c.105 others(55): Show c.1051-290_1051-289insAAAATAAAATAAAATAAAAAAAATAAAA TAAATAAAAT	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	6/8			chr2	TogoVar
RFX3_chr9_3213297_3531001	3427353	C C	CTATATAT others(31): Show CTATATATAAATATATATTGTTATTATATAATAATACAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	196	0.0051	38	c.-8- others(55): Show c.-8-31795_-8-31758dupTTGTATTATTATATAATAACAATATATA TTTATATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp2 HG01256.hp1 others(9): Show HG00099.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01981.hp2 HG02258.hp2 HG02273.hp2 HG02615.hp2 HG03041.hp1 HG06807.hp2 NA18962.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0003t0004 a0001c0005t0006 others(1): Show a0001c0001t0001 a0001c0003t0004 a0001c0005t0006 a0001c0009t0015	a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0292 others(9): Show a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0003t0004g0285 a0001c0003t0004g0296 a0001c0005t0006g0023 a0001c0005t0006g0025 a0001c0005t0006g0033 a0001c0005t0006g0034 a0001c0009t0015g0003	12	360	0.0333	38	c.401 others(55): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATAT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	ACTATATA others(31): Show ACTATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02083.hp1 HG02523.hp1 others(6): Show HG01975.hp1 HG02083.hp1 HG02523.hp1 HG02922.hp1 HG03139.hp2 NA18949.hp2 NA18951.hp1 NA18992.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0002 a0001c0001t0019 a0001c0002t0002	a0001c0001t0019g0234 a0001c0002t0002g0052 a0001c0002t0002g0062 others(6): Show a0001c0001t0019g0234 a0001c0002t0002g0052 a0001c0002t0002g0062 a0001c0002t0002g0079 a0001c0002t0002g0088 a0001c0002t0002g0096 a0001c0002t0002g0106 a0001c0002t0002g0119 a0001c0002t0002g0124	9	360	0.0250	38	c.401 others(55): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATAG	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RGPD2_chr2_87750960_87830796	87825537	C C	CCGCCGCC others(31): Show CCGCCGCCCGGCCAGGTCGAGGCCGCCGCCCGGCCAGGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03486.hp1 HG02723.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0013 a0001c0002t0006g0010 a0001c0001t0001g0013 a0001c0002t0006g0010	2	176	0.0114	38	c.72+ others(51): Show c.72+120_72+121insACCTGGCCGGGCGGCGGCCTCGACCTGGCCGG GCGGCG	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(31): Show GGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	312	0.0032	38	c.188 others(57): Show c.1882-1263_1882-1262insGGTGGAGAGATGGGGGTGTGGGGAGG GAGGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3440301	G G	GGCCGGGG others(31): Show GGCCGGGGCCTTGGGGGCTGGGTTGAGTCGGAAGAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0223 a0001c0041t0001g0223	1	312	0.0032	38	c.61 others(47): Show c.617_*618insGCCGGGGCCTTGGGGGCTGGGTTGAGTCGGAAGAGG CA	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding		389		chr4	TogoVar
RGS17_chr6_152999459_153136282	153122981	A A	ACTGGAGT others(31): Show ACTGGAGTAAATTGGAGTATTTAATACTCCAATGTACAT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	338	0.0030	38	c.-26 others(55): Show c.-26+8142_-26+8143insATGTACATTGGAGTATTAAATACTCCAA TTTACTCCAG	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	112	0.0089	38	c.175 others(57): Show c.175+30427_175+30428insTATATATATATATATATATATATATA TATATATACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTATATATATATATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	112	0.0089	38	c.175 others(57): Show c.175+30427_175+30428insTATACACATATATATATATATATATA CACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03017.hp1 HG03239.hp2 others(1): Show HG01433.hp2 HG03017.hp1 HG03239.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0086 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0003g0004	4	112	0.0357	38	c.175 others(57): Show c.175+30427_175+30428insTATATATATATATATATATACACACA CACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02145.hp1 HG02280.hp2 others(5): Show HG01515.hp2 HG02145.hp1 HG02280.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0058 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0002g0042 a0001c0001t0002g0097 a0001c0001t0003g0015 a0001c0001t0004g0007	8	112	0.0714	38	c.175 others(57): Show c.175+30427_175+30428insTATATATATATATATATACACACACA CACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0073 a0001c0001t0002g0055 a0001c0001t0002g0073	2	112	0.0179	38	c.175 others(57): Show c.175+30427_175+30428insTATATATATATATATACACACACACA CACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	112	0.0089	38	c.175 others(55): Show c.175+9602_175+9603insTATATATATATATATATATAGAGAGAGA GAGAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241235909	T T	TGAGAGAG others(31): Show TGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	112	0.0089	38	c.78+ others(57): Show c.78+119789_78+119790insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTTTCTCTCTC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241248349	T T	TATACATA others(31): Show TATACATATATATATATACGTATATATATGTATATATAC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	112	0.0089	38	c.78+ others(57): Show c.78+107312_78+107349dupGTATATATACATATATATACGTATAT ATATATATGTAT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327045	A A	AGGGAGGG others(31): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	112	0.0089	38	c.78+ others(55): Show c.78+28653_78+28654insCCCCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGSL1_chr1_182445146_182565597	182446788	T T	TCATATAC others(31): Show TCATATACATTTAATTTTTAAAATTAAATATATATATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG03098.hp1 HG02622.hp2 HG02630.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0001 a0002c0002t0001 a0001c0007t0001 a0002c0002t0001	a0001c0007t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0001c0007t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196	3	338	0.0089	38	c.-33 others(49): Show c.-3378_-3377insCATATACATTTAATTTTTAAAATTAAATATATAT ATGA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding		3357		chr1	TogoVar
RHBDL3_chr17_32260832_32329659	32276797	T T	TTACTCCG others(31): Show TTACTCCGGCCCTAGCACCTTACTCCGGCCCTAGCACAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	306	0.0033	38	c.136 others(55): Show c.136-7845_136-7844insCTTACTCCGGCCCTAGCACAGTACTCCG GCCCTAGCAC	RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RHBDL3_chr17_32260832_32329659	32318189	C C	CCCATACA others(31): Show CCCATACACAACAAAAAATATAAAAATTAGCGACATAGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	306	0.0033	38	c.943 others(55): Show c.943+1897_943+1898insCCATACACAACAAAAAATATAAAAATTA GCGACATAGT	RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	8/8			chr17	TogoVar
RHOA_chr3_49354145_49416976	49399054	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA20805.hp2 HG03654.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0231 a0001c0001t0001g0148 a0001c0001t0001g0231	2	264	0.0076	38	c.-3+ others(55): Show c.-3+12765_-3+12766insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOBTB2_chr8_22994548_23025199	23024880	A A	ACCTGTAA others(31): Show ACCTGTAAATTCATCAGAGGCTAGGTGCAGTGGCTCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	358	0.0028	38	c.74 others(49): Show c.7411_*7412insCCTGTAAATTCATCAGAGGCTAGGTGCAGTGGCT CACG	RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding		4682		chr8	TogoVar
RHPN1_chr8_143363876_143389221	143373264	C C	CGGGTTCC others(31): Show CGGGTTCCAGGGGATGGTGTGGGGGTTTGGGGATGGCGT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	426	0.0024	38	c.61- others(53): Show c.61-2275_61-2238dupTGGTGTGGGGGTTTGGGGATGGCGTGGGTT CCAGGGGA	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RHPN1_chr8_143363876_143389221	143373417	T T	TGGGTTCC others(31): Show TGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	426	0.0024	38	c.61- others(53): Show c.61-2081_61-2044dupTGTGGGGGTTTGGGGATGGCGCGGGTTCCA GGGGACGG	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIC1_chr9_5624107_5781557	5673535	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18947.hp2 NA18966.hp2 NA18612.hp1 NA18947.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0064 a0001c0001t0001g0134 a0001c0001t0001g0135	3	328	0.0092	38	c.253 others(57): Show c.253-16401_253-16400insTATATATATATATATATATATATATA TATATATATATA	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RICTOR_chr5_38932920_39079399	38990701	T T	TGATATAT others(31): Show TGATATATATCAGATATATCATATATATGATATATATCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0331 a0001c0005t0016g0331	1	338	0.0030	38	c.583 others(53): Show c.583+247_583+248insTGATATATATCATATATATGATATATCTGA TATATATC	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0082 a0001c0001t0037g0082	1	338	0.0030	38	c.-90 others(47): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(31): Show TACACACACACACTAATACGTATGTGTACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	338	0.0030	38	c.-90 others(47): Show c.-908_-907insGTGTGTGTGTGTACACATACGTATTAGTGTGTGTGT GT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RIGI_chr9_32450302_32531196	32508239	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	344	0.0029	38	c.107 others(55): Show c.107-7301_107-7300insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RILP_chr17_1641150_1654866	1643238	T T	TCCCCGCC others(31): Show TCCCCGCCCACCGGTGTCCGCCCCGCCCACCGGTGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG02258.hp1 HG01952.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	375	0.0053	38	c.32 others(49): Show c.3203_*3204insCGGACACCGGTGGGCGGGGCGGACACCGGTGGGC GGGG	RILP	ENSG00000167705.12	transcript	ENST00000301336.7	protein_coding		2911		chr17	TogoVar
RIMBP2_chr12_130391133_130721299	130539584	C C	CAGGTGTA others(31): Show CAGGTGTAGGATATGGCAAATGCAGTAGATGAGGTGGCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG03139.hp2 others(5): Show HG02258.hp1 HG02258.hp2 HG03139.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0001c0005 a0001c0008 others(5): Show a0001c0002 a0001c0005 a0001c0008 a0001c0020 a0002c0033 a0002c0034 a0004c0039 a0005c0013	a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 others(5): Show a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 a0001c0020t0001 a0002c0033t0008 a0002c0034t0003 a0004c0039t0001 a0005c0013t0003	a0001c0002t0001g0177 a0001c0005t0001g0165 a0001c0008t0001g0176 others(5): Show a0001c0002t0001g0177 a0001c0005t0001g0165 a0001c0008t0001g0176 a0001c0020t0001g0140 a0002c0033t0008g0166 a0002c0034t0003g0139 a0004c0039t0001g0132 a0005c0013t0003g0141	8	180	0.0444	38	c.-21 others(59): Show c.-216-21668_-216-21667insCGCCACCTCATCTACTGCATTTGC CATATCCTACACCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130539888	G G	GAGGTGTA others(31): Show GAGGTGTAGGATATGGCAAATGCAGTCGATGAGGTGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02683.hp2 NA20752.hp2 HG01081.hp1 HG02683.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0021 a0001c0002 a0001c0003 a0001c0021	a0001c0002t0002 a0001c0003t0001 a0001c0021t0001 a0001c0002t0002 a0001c0003t0001 a0001c0021t0001	a0001c0002t0002g0017 a0001c0003t0001g0010 a0001c0021t0001g0043 a0001c0002t0002g0017 a0001c0003t0001g0010 a0001c0021t0001g0043	3	180	0.0167	38	c.-21 others(59): Show c.-216-21972_-216-21971insGGCCACCTCATCGACTGCATTTGC CATATCCTACACCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130540066	C C	CGATGAGG others(31): Show CGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCAGTA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0164 a0001c0007t0001g0164	1	180	0.0056	38	c.-21 others(59): Show c.-216-22150_-216-22149insTACTGCATTTGCCATATCCTACAC CTGGCCACCTCATC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130540104	C C	CGATGAGG others(31): Show CGATGAGGTGGCCAGGTGTAGGATATGGCAAATGCAGTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG02559.hp1 HG02622.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0013 a0001c0002 a0005c0013	a0001c0002t0001 a0005c0013t0003 a0001c0002t0001 a0005c0013t0003	a0001c0002t0001g0063 a0005c0013t0003g0175 a0001c0002t0001g0063 a0005c0013t0003g0175	2	180	0.0111	38	c.-21 others(59): Show c.-216-22188_-216-22187insTACTGCATTTGCCATATCCTACAC CTGGCCACCTCATC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMS1_chr6_71881550_72408145	72093210	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	140	0.0071	38	c.246 others(55): Show c.246-3721_246-3720insTATATATATATATATATATATATATATA TATATATATA	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIN3_chr14_92508781_92693994	92561042	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0260 a0003c0003t0003g0260	1	334	0.0030	38	c.249 others(55): Show c.249+5088_249+5089insTATATATATATATATATATATATATATA TATATATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0291 a0003c0003t0001g0291	1	334	0.0030	38	c.249 others(55): Show c.249+5090_249+5091insAATATATATATATATATATATATATATA TATATATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK3_chr18_23448287_23488140	23469320	T T	TCTCTCCC others(31): Show TCTCTCCCCCTCTCTCCCCCTCTCTCCCCCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02615.hp1 others(5): Show HG02055.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02897.hp1 HG02970.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0260 a0001c0001t0002g0283 a0001c0001t0002g0289 others(5): Show a0001c0001t0002g0260 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0021g0331	8	402	0.0199	38	c.815 others(55): Show c.815+1799_815+1800insCCCCTCTCTCCCCCTCTCTCCCCCTCTC TCCCCCTCTC	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOK3_chr18_23448287_23488140	23469394	T T	TCCCCTCT others(31): Show TCCCCTCTCTCCCCTCTCTCCCCTCTCTCCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	402	0.0025	38	c.815 others(55): Show c.815+1870_815+1871insCCTCTCTCCCCTCTCTCCCCTCTCTCCC CTCTCTCCCC	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0101 a0001c0001t0017g0101	1	304	0.0033	38	c.143 others(55): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT ATATATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF113A_chrX_119865475_119876733	119875317	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	303	0.0033	38	c.-37 others(49): Show c.-3705_-3704insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RNF113A	ENSG00000125352.6	transcript	ENST00000371442.4	protein_coding		3585		chrX	TogoVar

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Search Results (Total: 5880 hits)