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
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19090.hp2 HG02004.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0165 a0001c0001t0001g0107 a0001c0001t0001g0165	2	322	0.0062	38	c.407 others(55): Show c.407-3578_407-3577insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16			chr19	TogoVar
RANBP9_chr6_13616498_13716835	13688982	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0328 a0005c0012t0001g0328	1	360	0.0028	38	c.683 others(55): Show c.683+7802_683+7803insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	2/13			chr6	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0049 a0002c0001t0001g0049	1	372	0.0027	38	c.-14 others(57): Show c.-149+8908_-149+8909insAATATATATATATATATATATATATA TATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18942.hp1 NA18949.hp1 others(2): Show HG03239.hp1 NA18942.hp1 NA18949.hp1 NA18980.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0001 a0002c0005 a0001c0012 a0002c0001 a0002c0005	a0001c0012t0001 a0002c0001t0001 a0002c0005t0001 a0001c0012t0001 a0002c0001t0001 a0002c0005t0001	a0001c0012t0001g0024 a0002c0001t0001g0022 a0002c0001t0001g0023 others(2): Show a0001c0012t0001g0024 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0005t0001g0020 a0002c0005t0001g0021	5	372	0.0134	38	c.-14 others(57): Show c.-149+8908_-149+8909insAATAAATATATATATATATATATATA TATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660345	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18962.hp2 NA18953.hp2 NA18962.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0052 a0002c0005t0001g0053 a0002c0005t0001g0052 a0002c0005t0001g0053	2	372	0.0054	38	c.-14 others(57): Show c.-149+8908_-149+8909insAATAAATAAATATATATATATATATA TATATATATATA	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GDS1_chr4_98256384_98448858	98445222	T T	TGCTCTGA others(31): Show TGCTCTGACGCCTGGTTAATTTTTGTATTTTTAGTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	242	0.0041	38	c.31 others(49): Show c.3105_*3106insGCTCTGACGCCTGGTTAATTTTTGTATTTTTAGT GGAG	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding		1365		chr4	TogoVar
RAPGEF1_chr9_131571775_131745076	131586801	C C	CACACACA others(31): Show CACACACACACACACCTGCAGAGCGAGACTCCGTCTCAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG02451.hp1 HG02922.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0067 a0002c0008t0012g0068 a0002c0008t0012g0067 a0002c0008t0012g0068	2	368	0.0054	38	c.323 others(55): Show c.3233+934_3233+935insTTGAGACGGAGTCTCGCTCTGCAGGTGT GTGTGTGTGT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
RAPH1_chr2_203428682_203540301	203481568	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0050 a0001c0033t0050	a0001c0033t0050g0231 a0001c0033t0050g0231	1	290	0.0035	38	c.732 others(55): Show c.732+8015_732+8016insATATATATATATATATATATATATATAT ATATATATAT	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	4/13			chr2	TogoVar
RAPH1_chr2_203428682_203540301	203506798	A A	ATATATCT others(31): Show ATATATCTAGATATATATATCTATATATATATCTATATC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0187 a0001c0001t0012g0187	1	290	0.0035	38	c.1-1 others(53): Show c.1-11446_1-11445insGATATAGATATATATATAGATATATATATC TAGATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RARB_chr3_25423263_25602932	25494250	T T	TACACACA others(31): Show TACACACACACGCACGCGCGCGCACTCACACACACACAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	290	0.0035	38	c.307 others(55): Show c.307-6930_307-6929insACACACACGCACGCGCGCGCACTCACAC ACACACACAC	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARS2_chr6_87508938_87594987	87513277	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0006 a0002c0012t0006	a0002c0012t0006g0366 a0002c0012t0006g0366	1	382	0.0026	38	c.11 others(49): Show c.1135_*1136insTATATATATATATATATATATATATACACACACA CACA	RARS2	ENSG00000146282.19	transcript	ENST00000369536.10	protein_coding		660		chr6	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	282	0.0036	38	c.101 others(55): Show c.1017+444_1017+445insTATATATATATATATATATATATTTTTT TTTTTTTTTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA3_chr13_113972783_114137623	114006018	C C	CGCCACCT others(31): Show CGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	67	0.0149	38	c.174 others(57): Show c.1742+1514_1742+1515insATCCAGCAGGGCAGGAGTGGGGAGAA GGGTAAGGTGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114006570	T T	TGGACGCC others(31): Show TGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	67	0.0149	38	c.174 others(55): Show c.1742+925_1742+962dupGGCAGGGCAGGAGTGGGGAGAAGGGTAA GGTGGCGTCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114006776	T T	TCCCCTCC others(31): Show TCCCCTCCTGCCCTGCCGGACACCACCTTACCCTTCTCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	67	0.0149	38	c.174 others(55): Show c.1742+756_1742+757insGGAGAAGGGTAAGGTGGTGTCCGGCAGG GCAGGAGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114006812	T T	TCCCCTCC others(31): Show TCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	67	0.0149	38	c.174 others(55): Show c.1742+683_1742+720dupGGAGAAGGGTAAGGTGGCGTCCGGCAGG GCAGGAGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114006815	C C	CCTCCTGC others(31): Show CCTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	67	0.0149	38	c.174 others(55): Show c.1742+717_1742+718insTGGGGAGAAGGGTAAGGTGGCATCCGGC AGGGCAGGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114007167	A A	ACCACCTT others(31): Show ACCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03490.hp2 HG01361.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0002t0002 a0001c0007t0002	a0001c0002t0002g0019 a0001c0007t0002g0063 a0001c0002t0002g0019 a0001c0007t0002g0063	2	67	0.0299	38	c.174 others(55): Show c.1742+365_1742+366insCATCCAGCAGGGCAGGAGTGGGGAGAAG GGTAAGGTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044393	C C	CTCACTCG others(31): Show CTCACTCGCTGAGCCCCCCCCCCCGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	67	0.0149	38	c.278 others(55): Show c.278-3300_278-3299insCTCAGCGAGTGAGGCGGGGGGGGGGGCT CAGCGAGTGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114098934	G G	GGACCACA others(31): Show GGACCACAGCAGTCGGGGCCCGGCCACCCGAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01361.hp1 HG01167.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0065 a0001c0001t0001g0046 a0001c0001t0001g0065	2	67	0.0299	38	c.56- others(55): Show c.56-25135_56-25098dupTGGGGGGCTCGGGTGGCCGGGCCCCGAC TGCTGTGGTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114098992	C C	CGGCCACC others(31): Show CGGCCACCCGAGCCCCCCAGACCACAGCAGTCGGGGCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	67	0.0149	38	c.56- others(55): Show c.56-25156_56-25155insAGGCCCCGACTGCTGTGGTCTGGGGGGC TCGGGTGGCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114111313	A A	AGTTCTAA others(31): Show AGTTCTAACGGGCTGAGCCTCAAACGAGCTGCAGGCCGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0052 a0001c0010t0002g0052	1	67	0.0149	38	c.55+ others(55): Show c.55+21121_55+21122insGCGGCCTGCAGCTCGTTTGAGGCTCAGC CCGTTAGAAC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114111361	G G	GGCTGAGC others(31): Show GGCTGAGCCTCAAACGAGCTGCAGGCGGAGTTCTAAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	67	0.0149	38	c.55+ others(55): Show c.55+21073_55+21074insTCCTTAGAACTCCGCCTGCAGCTCGTTT GAGGCTCAGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114111461	A A	ACCGAGTT others(31): Show ACCGAGTTCTAACGGGCTGAGCCTCAAACGAGCTGCAGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	67	0.0149	38	c.55+ others(55): Show c.55+20936_55+20973dupCCTGCAGCTCGTTTGAGGCTCAGCCCGT TAGAACTCGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114125862	G G	GGCTGTCC others(31): Show GGCTGTCCAACCTCGCACCCTCCAGAGGTACCGGCACCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0001	1	67	0.0149	38	c.55+ others(53): Show c.55+6535_55+6572dupAGGTGCCGGTACCTCTGGAGGGTGCGAGGT TGGACAGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114125867	T T	TCCAACCT others(31): Show TCCAACCTCGCACCCTCCAGAGGTACCGGCACCTGCTGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01993.hp2 others(1): Show HG01361.hp2 HG01993.hp1 HG01993.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 others(1): Show a0001c0002t0002g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022	4	67	0.0597	38	c.55+ others(53): Show c.55+6530_55+6567dupGCAGCAGGTGCCGGTACCTCTGGAGGGTGC GAGGTTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114126057	C C	CCCAACCT others(31): Show CCCAACCTCGCACCCTCCAGAGGTACCGGCACCTGCTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0001	1	67	0.0149	38	c.55+ others(53): Show c.55+6340_55+6377dupACAGCAGGTGCCGGTACCTCTGGAGGGTGC GAGGTTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASAL2_chr1_178089104_178483850	178110637	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0018 a0001c0002t0028g0018	1	180	0.0056	38	c.202 others(57): Show c.202+15959_202+15960insATATATATATATATATATATATATAT ATATATATATAT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASAL2_chr1_178089104_178483850	178110650	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	180	0.0056	38	c.202 others(57): Show c.202+15959_202+15960insATATATATATATATATATATATATAT ATATATATGTAT	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(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	180	0.0056	38	c.564 others(55): Show c.564+5586_564+5587insATATATATATATATATATATATATATAT ATATATATAT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASGRF2_chr5_80955363_81235162	80992183	T T	TACACACA others(31): Show TACACACACACACACATACACACACATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA21309.hp1 HG02965.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0008 a0003c0009 a0001c0008 a0003c0009	a0001c0008t0032 a0003c0009t0001 a0001c0008t0032 a0003c0009t0001	a0001c0008t0032g0238 a0003c0009t0001g0239 a0001c0008t0032g0238 a0003c0009t0001g0239	2	276	0.0073	38	c.288 others(57): Show c.288+31172_288+31173insTACACACACATACACACACACACACA CACACACACACA	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(31): Show TACACACACACACATACACACACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp1 HG03579.hp2 HG02559.hp1 HG02970.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0014 a0003c0011 a0001c0001 a0001c0014 a0003c0011	a0001c0001t0005 a0001c0014t0041 a0003c0011t0001 a0001c0001t0005 a0001c0014t0041 a0003c0011t0001	a0001c0001t0005g0269 a0001c0014t0041g0050 a0003c0011t0001g0107 a0001c0001t0005g0269 a0001c0014t0041g0050 a0003c0011t0001g0107	3	276	0.0109	38	c.288 others(57): Show c.288+31170_288+31171insTACACACACATACACACACACACACA CACACACACACA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRF2_chr5_80955363_81235162	80992197	C C	CATACACA others(31): Show CATACACACACATACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA20905.hp2 HG03710.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0034 a0003c0009t0037 a0001c0001t0034 a0003c0009t0037	a0001c0001t0034g0073 a0003c0009t0037g0241 a0001c0001t0034g0073 a0003c0009t0037g0241	2	276	0.0073	38	c.288 others(57): Show c.288+31172_288+31173insTACACACACATACACACACACACACA CACACACACAGA	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASGRP1_chr15_38483103_38569814	38542862	C C	CATATATG others(31): Show CATATATGTGTATATATATACACATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0170 a0001c0004t0004g0170	1	350	0.0029	38	c.221 others(57): Show c.221-16459_221-16458insATATATATACATATATGTGTATATAT ATACACATATAT	RASGRP1	ENSG00000172575.14	transcript	ENST00000310803.10	protein_coding	2/16			chr15	TogoVar
RASSF2_chr20_4775023_4828608	4778469	T T	TAAAAAAT others(31): Show TAAAAAATAAAAAAAAAACATTTTTTTTCTTAGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0324 a0001c0001t0005g0324	1	430	0.0023	38	c.58 others(49): Show c.5803_*5804insGGGGGGCTAAGAAAAAAAATGTTTTTTTTTTATT TTTT	RASSF2	ENSG00000101265.16	transcript	ENST00000379400.8	protein_coding		1553		chr20	TogoVar
RASSF3_chr12_64605495_64702564	64641414	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0024 a0001c0002t0045g0024	1	370	0.0027	38	c.111 others(57): Show c.111+30672_111+30673insACACACACACACACACACACACACAC ACACACACGCGC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF3_chr12_64605495_64702564	64641414	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACGCGCGCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0048 a0001c0001t0028g0048	1	370	0.0027	38	c.111 others(57): Show c.111+30672_111+30673insACACACACACACACACACACACACAC ACACGCGCGCGC	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASSF5_chr1_206502531_206594448	206523612	A A	ATATATAA others(31): Show ATATATAAAATATATAAAATATATTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01175.hp2 others(21): Show HG00597.hp2 HG00609.hp1 HG01175.hp2 HG01346.hp1 HG01891.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02135.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 NA18984.hp2 NA19010.hp1 NA19012.hp1 NA19063.hp2 NA19081.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0004 a0001c0002t0020	a0001c0001t0001g0024 a0001c0001t0001g0111 a0001c0001t0001g0121 others(20): Show a0001c0001t0001g0024 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0003g0005 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0180 a0001c0001t0006g0023 a0001c0001t0006g0025 a0001c0001t0006g0122 a0001c0001t0011g0116 a0001c0001t0011g0117 a0001c0002t0001g0120 a0001c0002t0004g0110 a0001c0002t0020g0119	24	346	0.0694	38	c.458 others(57): Show c.458-14527_458-14490dupTATATTTATATAAAATATATAAAATA TATTATATATAA	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASSF5_chr1_206502531_206594448	206523657	A A	AAATATAT others(31): Show AAATATATAAAATATATTATATATAATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01952.hp2 others(3): Show HG01256.hp1 HG01258.hp1 HG01952.hp2 HG01978.hp2 NA19010.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0008t0005	a0001c0001t0001g0014 a0001c0001t0005g0045 a0001c0001t0017g0044 others(2): Show a0001c0001t0001g0014 a0001c0001t0005g0045 a0001c0001t0017g0044 a0001c0008t0005g0106 a0001c0008t0005g0107	6	346	0.0173	38	c.458 others(57): Show c.458-14490_458-14489insTATATTTATATATAATATATAAAATA TATTATATATAA	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAVER2_chr1_64740075_64838232	64833216	A A	AGGGGGGG others(31): Show AGGGGGGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0021 a0000c0009t0021	a0000c0009t0021g0145 a0000c0009t0021g0145	1	364	0.0028	38	c.22 others(49): Show c.2233_*2234insGGGGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGG GGGG	RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	12/12	2234	INFO_REALIGN_3_PRIME	chr1	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(31): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG03491.hp1 HG03492.hp1 HG00642.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0139 a0001c0001t0001g0185 a0001c0001t0001g0187	3	306	0.0098	38	c.-35 others(49): Show c.-3577_-3576insTATATATATATATATATATTTTTTTTTTTTTTTT TTTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP9_chr20_18481540_18502225	18486137	A A	AATATAAA others(31): Show AATATAAATATATATATAAATATATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0107 a0001c0001t0050g0107	1	454	0.0022	38	c.36 others(49): Show c.3626_*3627insATATATATATTTATATATATTTATATATATATTT ATAT	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		402		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6806817	A A	AATATATA others(31): Show AATATATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0043 a0003c0005t0003g0043	1	68	0.0147	38	c.-16 others(59): Show c.-16+152174_-16+152175insAATATATATATATATATATATATA TATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6859129	A A	ATGTATAT others(31): Show ATGTATATATATATATGTATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG01192.hp2 others(6): Show HG00280.hp2 HG01099.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG02148.hp2 HG02738.hp2 HG02976.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0032	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0059 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0002g0017 a0001c0001t0003g0010 a0001c0001t0005g0066 a0001c0001t0016g0011 a0001c0001t0032g0068	9	68	0.1324	38	c.-15 others(59): Show c.-15-192928_-15-192927insTGTATATATATATATGTATATATA TACGTATATATATG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6859174	T T	TACGTATA others(31): Show TACGTATACGTATACGTATATATATACGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0029 a0001c0001t0037g0029	1	68	0.0147	38	c.-15 others(59): Show c.-15-192883_-15-192882insACGTATACGTATACGTATATATAT ACGTATATGTATAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7225905	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp1 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0040 a0001c0001t0014g0046 a0001c0001t0004g0040 a0001c0001t0014g0046	2	68	0.0294	38	c.27+ others(57): Show c.27+173822_27+173823insTATATATATATATATATATATATATA TATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7460389	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	68	0.0147	38	c.28- others(55): Show c.28-57757_28-57756insATATATATATATATATATATATATATAT ATGTGTGTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7460389	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	234	0.0043	38	c.88- others(55): Show c.88-57757_88-57756insATATATATATATATATATATATATATAT ATGTGTGTGT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79138942	C C	CCCTCACC others(31): Show CCCTCACCCCCGCACACGCACACAGCACATGCGTTCACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	154	0.0065	38	c.-33 others(57): Show c.-33-23195_-33-23194insTGTGAACGCATGTGCTGTGTGCGTGT GCGGGGGTGAGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79151518	C C	CGATGGGA others(31): Show CGATGGGAGGGGACCTGCAGGGGGAGGAGGGGAGGCGAG	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.-33-35771_-33-35770insCTCGCCTCCCCTCCTCCCCCTGCAGG TCCCCTCCCATC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar

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