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
RALYL_chr8_84178274_84926844	84342277	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp1 NA20752.hp1 others(1): Show HG02895.hp2 HG02922.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0002g0062 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0002g0062 a0001c0001t0015g0064	4	82	0.0488	36	c.-24 others(57): Show c.-24+157872_-24+157873insTATATATATATATATATATATATA TATATATATATA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84478918	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	82	0.0122	36	c.-23 others(55): Show c.-23-50381_-23-50380insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8			chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	82	0.0122	36	c.257 others(55): Show c.257-41895_257-41894insTATATATATATATATATATATATATA TATACACACA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84732683	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	82	0.0122	36	c.257 others(55): Show c.257-41895_257-41894insTATATATATATATATATATATATATA TATATACACA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RALYL_chr8_84178274_84926844	84735809	C C	CGTGAGAG others(29): Show CGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	82	0.0122	36	c.257 others(55): Show c.257-38769_257-38768insTGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	322	0.0031	36	c.407 others(53): Show c.407-3578_407-3577insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16			chr19	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19030.hp1 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0330 a0001c0002t0001g0331	2	372	0.0054	36	c.-14 others(55): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18999.hp2 NA19003.hp2 HG02015.hp2 NA18999.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0001c0002t0001 a0002c0001t0001 a0002c0001t0002	a0001c0002t0001g0019 a0002c0001t0001g0018 a0002c0001t0002g0017 a0001c0002t0001g0019 a0002c0001t0001g0018 a0002c0001t0002g0017	3	372	0.0081	36	c.-14 others(55): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0012 a0002c0001t0001g0012	1	372	0.0027	36	c.-14 others(55): Show c.-149+8908_-149+8909insAATAAATAAATATATATATATATATA TATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAPGEF1_chr9_131571775_131745076	131587072	A A	ACACACAC others(29): Show ACACACACACACACACCTGCAGAGCGAGACTCCGTCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG01168.hp2 others(32): Show HG00558.hp2 HG00733.hp2 HG01168.hp2 HG01884.hp1 HG02015.hp2 HG02074.hp1 HG02280.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03654.hp2 HG03710.hp1 NA18522.hp1 NA18942.hp2 NA18951.hp1 NA18972.hp1 NA18979.hp1 NA18982.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19000.hp1 NA19004.hp1 NA20300.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0014 a0008c0012 a0001c0002 a0001c0014 a0008c0012	a0001c0002t0004 a0001c0002t0015 a0001c0002t0016 others(2): Show a0001c0002t0004 a0001c0002t0015 a0001c0002t0016 a0001c0014t0004 a0008c0012t0004	a0001c0002t0004g0004 a0001c0002t0004g0054 a0001c0002t0004g0055 others(31): Show a0001c0002t0004g0004 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0004g0059 a0001c0002t0004g0073 a0001c0002t0004g0079 a0001c0002t0004g0115 a0001c0002t0004g0122 a0001c0002t0004g0123 a0001c0002t0004g0124 a0001c0002t0004g0125 a0001c0002t0004g0127 a0001c0002t0004g0129 a0001c0002t0004g0138 a0001c0002t0004g0141 a0001c0002t0004g0146 a0001c0002t0004g0155 a0001c0002t0004g0160 a0001c0002t0004g0162 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0247 a0001c0002t0004g0356 a0001c0002t0015g0145 a0001c0002t0015g0222 a0001c0002t0016g0352 a0001c0014t0004g0165 a0008c0012t0004g0156	35	368	0.0951	36	c.323 others(53): Show c.3233+663_3233+664insAGACGGAGTCTCGCTCTGCAGGTGTGTG TGTGTGTG	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
RAPH1_chr2_203428682_203540301	203506852	A A	ATATATAT others(29): Show ATATATATATCTATATATATATCTATATCTATATATC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	290	0.0035	36	c.1-1 others(51): Show c.1-11500_1-11499insGATATATAGATATAGATATATATATAGATA TATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(29): Show TACACACACACGCACGCGCGCGCACTCACACACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02970.hp2 HG04199.hp2 others(9): Show HG02155.hp2 HG02970.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18981.hp2 NA18982.hp1 NA19058.hp2 NA19063.hp1 NA19074.hp2 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0003t0017	a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0153 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0153 a0001c0001t0001g0225 a0001c0001t0002g0005 a0001c0001t0002g0077 a0001c0001t0002g0120 a0001c0001t0002g0166 a0001c0001t0002g0180 a0001c0001t0002g0252 a0001c0001t0012g0245 a0001c0003t0017g0272	12	290	0.0414	36	c.307 others(53): Show c.307-6930_307-6929insACACACACGCACGCGCGCGCACTCACAC ACACACAC	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	394	0.0025	36	c.187 others(51): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114005946	T T	TGCCACCT others(29): Show TGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	67	0.0149	36	c.174 others(55): Show c.1742+1551_1742+1586dupGTCCGGCAGGGCAGGAGGGGAGAAGG GTAAGGTGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114006036	C C	CCCCCTCC others(29): Show CCCCCTCCTGCCCTGCCGGACACCACCTTACCCTTCT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	67	0.0149	36	c.174 others(55): Show c.1742+1496_1742+1497insAGAAGGGTAAGGTGGTGTCCGGCAGG GCAGGAGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114006980	T T	TGCCACCT others(29): Show TGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	67	0.0149	36	c.174 others(53): Show c.1742+552_1742+553insGTCCGGCAGGGCAGGAGGGGAGAAGGGT AAGGTGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114007349	C C	CCCCCTCC others(29): Show CCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	67	0.0149	36	c.174 others(53): Show c.1742+148_1742+183dupAGAAGGGTAAGGTGGCGTCCGGCAGGGC AGGAGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114034870	C C	CTAGAGCA others(29): Show CTAGAGCAGAAGGGAGATCTGAACGCTGACCTGAGCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	67	0.0299	36	c.373 others(53): Show c.373-5019_373-4984dupAGCTCAGGTCAGCGTTCAGATCTCCCTT CTGCTCTA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	4/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114034959	T T	TCTGAACG others(29): Show TCTGAACGCTGACCTGAGCTTAGAGCAGAAGGGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00733.hp2 others(21): Show HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0009t0008 a0001c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0005g0018 a0001c0001t0005g0023 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0009t0008g0048 a0001c0011t0001g0042	24	67	0.3582	36	c.373 others(53): Show c.373-5108_373-5073dupCTCTCCCTTCTGCTCTAAGCTCAGGTCA GCGTTCAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	4/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044156	G G	GCCCCCCC others(29): Show GCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	67	0.0149	36	c.278 others(53): Show c.278-3063_278-3062insGGGGAGCTCAGCGAGTGAGGCGGGGCGG GGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114119626	C C	CCCTCTCT others(29): Show CCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	67	0.0149	36	c.55+ others(53): Show c.55+12808_55+12809insAGGGGGGGCCCTGATCGACGCCTGGCTG GAGAGAGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASAL2_chr1_178089104_178483850	178093789	G G	GCCGCCGC others(29): Show GCCGCCGCCGCCGCCGCCGCCACCGCCGCCACCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0138 a0001c0001t0013g0138	1	180	0.0056	36	c.-70 others(45): Show c.-704_-703insCCGCCGCCGCCGCCGCCGCCACCGCCGCCACCGCCA	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding		314		chr1	TogoVar
RASAL2_chr1_178089104_178483850	178110637	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	180	0.0056	36	c.202 others(55): Show c.202+15959_202+15960insATATATATATATATATATATATATAT ATATATATAT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASAL2_chr1_178089104_178483850	178395771	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	180	0.0056	36	c.564 others(53): Show c.564+5586_564+5587insATATATATATATATATATATATATATAT ATATATAT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASGEF1B_chr4_81421393_81476907	81466766	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	316	0.0032	36	c.-7+ others(51): Show c.-7+5003_-7+5004insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGEF1C_chr5_180095795_180214211	180128695	A A	AGGGGGGG others(29): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0283 a0001c0001t0029g0283	1	370	0.0027	36	c.439 others(49): Show c.439-86_439-85insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCC	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(29): Show TACACACACACACACATACACACACATACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	276	0.0036	36	c.288 others(55): Show c.288+31172_288+31173insTACACACACATACACACACACACACA CACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(29): Show TACACACACACACATACACACACATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02258.hp2 HG02717.hp1	a0003 a0004 a0003 a0004	a0003c0015 a0004c0012 a0003c0015 a0004c0012	a0003c0015t0001 a0004c0012t0001 a0003c0015t0001 a0004c0012t0001	a0003c0015t0001g0002 a0004c0012t0001g0271 a0003c0015t0001g0002 a0004c0012t0001g0271	2	276	0.0073	36	c.288 others(55): Show c.288+31170_288+31171insTACACACACATACACACACACACACA CACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	80996471	T T	TTTCTTCT others(29): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02148.hp2 HG02717.hp1 others(3): Show HG00735.hp2 HG02148.hp2 HG02717.hp1 HG02723.hp2 NA18952.hp1 NA18987.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0015 a0001c0001 a0001c0002 a0003c0015	a0001c0001t0022 a0001c0001t0046 a0001c0002t0002 others(2): Show a0001c0001t0022 a0001c0001t0046 a0001c0002t0002 a0001c0002t0011 a0003c0015t0001	a0001c0001t0022g0111 a0001c0001t0046g0276 a0001c0002t0002g0221 others(3): Show a0001c0001t0022g0111 a0001c0001t0046g0276 a0001c0002t0002g0221 a0001c0002t0002g0231 a0001c0002t0011g0275 a0003c0015t0001g0002	6	276	0.0217	36	c.288 others(55): Show c.288+35478_288+35479insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTC	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	81169839	T T	TTGCATCA others(29): Show TTGCATCACCTGTACCACCTGTATCACCCATACCACC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0058 a0001c0001t0030g0058	1	276	0.0036	36	c.268 others(57): Show c.2687-10325_2687-10324insTACCACCTGTATCACCCATACCAC CTGCATCACCTG	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASIP1_chr19_48715585_48745610	48742976	T T	TGCCTCGG others(29): Show TGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	364	0.0028	36	c.-24 others(47): Show c.-2496_-2461dupCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAG GC	RASIP1	ENSG00000105538.10	transcript	ENST00000222145.9	protein_coding		2367		chr19	TogoVar
RASSF3_chr12_64605495_64702564	64641414	A A	ACACACAC others(29): Show ACACACACACACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02630.hp1 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0021 a0001c0002t0029g0022 a0001c0002t0029g0021 a0001c0002t0029g0022	2	370	0.0054	36	c.111 others(55): Show c.111+30672_111+30673insACACACACACACACACACACACACAC ACACACGCGC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64696085	T T	TCCTCCCT others(29): Show TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCACTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0045 a0001c0002t0029 a0001c0002t0045	a0001c0002t0029g0021 a0001c0002t0029g0022 a0001c0002t0045g0024 a0001c0002t0029g0021 a0001c0002t0029g0022 a0001c0002t0045g0024	3	370	0.0081	36	c.12 others(47): Show c.1205_*1206insACTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	5/5	1206	INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64696118	C C	CCTCCCTC others(29): Show CCTCCCTCACTCACTCCCTCCCTCCCTCCCTCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02717.hp1 others(5): Show HG02280.hp1 HG02559.hp1 HG02717.hp1 HG02723.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0011 a0002c0003t0030 a0002c0004t0011 a0002c0003t0011 a0002c0003t0030 a0002c0004t0011	a0002c0003t0011g0111 a0002c0003t0011g0112 a0002c0003t0011g0114 others(4): Show a0002c0003t0011g0111 a0002c0003t0011g0112 a0002c0003t0011g0114 a0002c0003t0011g0115 a0002c0003t0011g0117 a0002c0003t0030g0001 a0002c0004t0011g0326	8	370	0.0216	36	c.12 others(47): Show c.1210_*1211insCTCACTCACTCCCTCCCTCCCTCCCTCCCTCACT CC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	5/5	1211	INFO_REALIGN_3_PRIME	chr12	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(29): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	306	0.0033	36	c.-35 others(47): Show c.-3577_-3576insTATATATATATATATATTTTTTTTTTTTTTTTTT TT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(29): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	306	0.0033	36	c.-35 others(47): Show c.-3577_-3576insTATATATATATATATTTTTTTTTTTTTTTTTTTT TT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48459906	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	306	0.0033	36	c.210 others(51): Show c.2106+76_2106+77insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTC	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBFOX1_chr16_6014024_7718340	6637319	A A	ATATATAA others(29): Show ATATATAATATATAATATACAAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	68	0.0147	36	c.-63 others(55): Show c.-63-17278_-63-17277insATATATAATATACAAATATATATTAT ATATTATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6780121	A A	ATATATTT others(29): Show ATATATTTATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0068 a0001c0001t0032g0068	1	68	0.0147	36	c.-16 others(57): Show c.-16+125476_-16+125477insTTATTTATATTTATATATATTTAT ATATATTTATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008909	A A	ACTTCCTC others(29): Show ACTTCCTCCCTCCCTTCCTCCCTCACTTCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	68	0.0147	36	c.-15 others(55): Show c.-15-43125_-15-43124insACTTCCTCCCTCCCTTCCTCCCTCCC TTCCTCCCTC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7022013	T T	TCCCCCTC others(29): Show TCCCCCTCCCCCTCTCCCTCCCCTTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG03139.hp2 others(3): Show HG02559.hp2 HG02622.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 a0001c0002t0038	a0001c0001t0003g0006 a0001c0001t0006g0038 a0001c0001t0023g0047 others(3): Show a0001c0001t0003g0006 a0001c0001t0006g0038 a0001c0001t0023g0047 a0001c0001t0036g0032 a0001c0001t0037g0029 a0001c0002t0038g0023	6	68	0.0882	36	c.-15 others(55): Show c.-15-30041_-15-30040insCCTCCCCCTCTCCCTCCCCTTCCCTT CCCCCTCCCC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7217015	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0054 a0001c0001t0012g0054	1	68	0.0147	36	c.27+ others(55): Show c.27+164952_27+164953insTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7225905	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA21309.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0043 a0001c0001t0029 a0001c0001t0043	a0001c0001t0029g0001 a0001c0001t0043g0003 a0001c0001t0029g0001 a0001c0001t0043g0003	2	68	0.0294	36	c.27+ others(55): Show c.27+173822_27+173823insTATATATATATATATATATATATATA TATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229742	A A	AGAAGGAA others(29): Show AGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0022 a0001c0001t0042g0022	1	68	0.0147	36	c.27+ others(55): Show c.27+177718_27+177753dupAAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229744	A A	AAGGAAGG others(29): Show AAGGAAGGGAGAAAGAGGAAGGAAGGGAGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	68	0.0147	36	c.27+ others(55): Show c.27+177657_27+177658insAAGAGGAAGGAAGGGAGAGAGAGGGA GGAAGGGAGA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229780	A A	AAGGAAGG others(29): Show AAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0047 a0001c0001t0023g0047	1	68	0.0147	36	c.27+ others(55): Show c.27+177717_27+177718insGAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7229870	A A	AAGGAAGG others(29): Show AAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0064 a0001c0001t0040g0064	1	68	0.0147	36	c.27+ others(55): Show c.27+177887_27+177922dupGGAGAGAGAGGGAGGAAGGGAGAGAG AGGGAGGAAG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7280989	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	68	0.0147	36	c.27+ others(55): Show c.27+228894_27+228895insCTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7281020	C C	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0001 a0001c0001t0029g0001	1	68	0.0147	36	c.27+ others(55): Show c.27+228922_27+228923insTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15			chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79611169	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0019 a0001c0001t0016g0019	1	154	0.0065	36	c.-66 others(45): Show c.-664_-663insCGAGAGCGAGAGCGAGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		119		chr17	TogoVar

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Search Results (Total: 8848 hits)