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
RPTOR_chr17_80539838_80971368	80744325	C C	CCCTGGTT others(29): Show CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0033 a0001c0032t0033	a0001c0032t0033g0039 a0001c0032t0033g0039	1	196	0.0051	36	c.655 others(53): Show c.655-9680_655-9679insTTACGAGCACTGTCCTGGCTACTAGCAC TGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744349	C C	CTACTAGC others(29): Show CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0010 a0004c0082t0010	a0004c0082t0010g0052 a0004c0082t0010g0052	1	196	0.0051	36	c.655 others(53): Show c.655-9652_655-9651insAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744371	G G	GAGCACTG others(29): Show GAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0004 a0001c0004t0035g0004	1	196	0.0051	36	c.655 others(53): Show c.655-9634_655-9633insTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744397	T T	TCCTGGCT others(29): Show TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0032 a0001c0014t0002g0032	1	196	0.0051	36	c.655 others(53): Show c.655-9598_655-9597insTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744430	C C	CTGTCCTG others(29): Show CTGTCCTGGTTACGAGCACTGTCCTGGTTACTAGCAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0081 a0001c0008t0081	a0001c0008t0081g0019 a0001c0008t0081g0019	1	196	0.0051	36	c.655 others(53): Show c.655-9580_655-9579insTGTCCTGGTTACGAGCACTGTCCTGGTT ACTAGCAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGCT others(29): Show CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	196	0.0051	36	c.655 others(53): Show c.655-9496_655-9495insTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744649	T T	TCCTGGCT others(29): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0091 a0001c0045t0091	a0001c0045t0091g0036 a0001c0045t0091g0036	1	196	0.0051	36	c.655 others(53): Show c.655-9356_655-9355insCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744721	T T	TCCTGGTT others(29): Show TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0004 a0001c0037t0004	a0001c0037t0004g0145 a0001c0037t0004g0145	1	196	0.0051	36	c.655 others(53): Show c.655-9284_655-9283insTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744799	C C	CTACTAGC others(29): Show CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0075 a0001c0005t0075	a0001c0005t0075g0009 a0001c0005t0075g0009	1	196	0.0051	36	c.655 others(53): Show c.655-9202_655-9201insAGCCCTGGTTACTAGCACTGTCCTGGTT ACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGA_chr9_19044427_19056025	19045619	C C	CCAGTAAC others(29): Show CCAGTAACCAGAATCCTTGAGCAGCTAACAACCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	446	0.0022	36	c.-40 others(47): Show c.-4041_-4040insCAGTAACCAGAATCCTTGAGCAGCTAACAACCCC AT	RRAGA	ENSG00000155876.6	transcript	ENST00000380527.3	protein_coding		3807		chr9	TogoVar
RRAGB_chrX_55712749_55763774	55744387	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0187 a0001c0001t0002g0188	2	276	0.0073	36	c.517 others(53): Show c.517-6697_517-6696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18943.hp2 NA18974.hp2 others(1): Show NA18942.hp1 NA18943.hp2 NA18974.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0127 a0001c0001t0002g0131 others(1): Show a0001c0001t0002g0107 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0136	4	372	0.0108	36	c.445 others(53): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RREB1_chr6_7102961_7256980	7168955	A A	AGTGCCTA others(29): Show AGTGCCTAGCATATTTCTAGCATAGAGTTTATGTCAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0058 a0003c0002t0003g0059 a0003c0002t0003g0058 a0003c0002t0003g0059	2	292	0.0069	36	c.-28 others(55): Show c.-284-7699_-284-7664dupGTGCCTAGCATATTTCTAGCATAGAG TTTATGTCAC	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
RRP7A_chr22_42503344_42524796	42509848	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG03654.hp2 HG00741.hp1 HG03654.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0045 a0003c0004t0045	a0003c0004t0045g0209 a0003c0004t0045g0222 a0003c0004t0045g0209 a0003c0004t0045g0222	2	388	0.0052	36	c.30 others(47): Show c.3061_*3062insACACACACACACACACACACACACACACACACAC AC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3061		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGGGTG others(29): Show GGTGGGTGTGTGGGGGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02615.hp1 HG02809.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0043 a0001c0012t0043	a0001c0012t0043g0195 a0001c0012t0043g0196 a0001c0012t0043g0195 a0001c0012t0043g0196	2	388	0.0052	36	c.30 others(47): Show c.3059_*3060insACACACACACACACACACACACCCCCACACACCC AC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 NA18747.hp2 NA20129.hp2 HG02257.hp1 NA18747.hp2 NA20129.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0005 a0002c0001 a0004c0005	a0002c0001t0068 a0004c0005t0054 a0004c0005t0086 a0002c0001t0068 a0004c0005t0054 a0004c0005t0086	a0002c0001t0068g0088 a0004c0005t0054g0220 a0004c0005t0086g0215 a0002c0001t0068g0088 a0004c0005t0054g0220 a0004c0005t0086g0215	3	388	0.0077	36	c.30 others(47): Show c.3059_*3060insACACACACACACACACACACACACACACACACAC AC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0050 a0002c0003t0004g0050	1	336	0.0030	36	c.51 others(47): Show c.5150_*5151insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding		1297		chr7	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0245 a0001c0001t0009g0245	1	352	0.0028	36	c.290 others(55): Show c.2901-1250_2901-1249insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15			chr11	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	276	0.0036	36	c.321 others(51): Show c.321-491_321-490insATATATATATATATATATATATATATATAT ATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(29): Show TTATATATATATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp2 HG02258.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0252 a0001c0001t0002g0253	2	276	0.0073	36	c.321 others(51): Show c.321-499_321-498insGTATATATATATATATATATATATATATAT ATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02132.hp2 HG03041.hp2 others(5): Show HG00597.hp1 HG02132.hp2 HG03041.hp2 HG06807.hp2 NA18950.hp2 NA19004.hp2 NA19070.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015	a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0167 others(5): Show a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0002g0022 a0001c0001t0003g0071 a0001c0001t0008g0094 a0001c0001t0015g0062	8	276	0.0290	36	c.321 others(51): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT ATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477795	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0035 a0001c0001t0021g0035	1	276	0.0036	36	c.652 others(55): Show c.652+16794_652+16795insATATATATATATATATATATATATAT ATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp2 NA20752.hp2 HG02145.hp1 HG03098.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0022 a0001c0001t0006 a0001c0001t0013 a0001c0001t0022	a0001c0001t0006g0248 a0001c0001t0013g0275 a0001c0001t0022g0041 a0001c0001t0006g0248 a0001c0001t0013g0275 a0001c0001t0022g0041	3	276	0.0109	36	c.652 others(55): Show c.652+16824_652+16825insATATATATATATATATATATATATAT ATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01993.hp2 HG02074.hp2 others(2): Show HG00280.hp2 HG01993.hp2 HG02074.hp2 HG02257.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0023	a0001c0001t0002g0054 a0001c0001t0002g0240 a0001c0001t0004g0156 others(2): Show a0001c0001t0002g0054 a0001c0001t0002g0240 a0001c0001t0004g0156 a0001c0001t0007g0179 a0001c0001t0023g0106	5	276	0.0181	36	c.652 others(55): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTEL1_chr20_63653312_63701245	63683912	C C	CTAAGTTC others(29): Show CTAAGTTCTGAGGATCCCATATACATATTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	60	0.0167	36	c.119 others(55): Show c.1192-1610_1192-1575dupTAAGTTCTGAGGATCCCATATACATA TTCTCTCTCT	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL4_chrX_112078016_112462514	112161844	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0016 a0001c0003t0005g0016	1	134	0.0075	36	c.-44 others(57): Show c.-445+30746_-445+30747insCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112226971	T T	TAAATAAA others(29): Show TAAATAAAATAAAATAAAACAAAACAAAATAAAATAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0117 a0001c0003t0005g0117	1	134	0.0075	36	c.-44 others(57): Show c.-444-79388_-444-79387insATAAAATAAAATAAAACAAAACAA AATAAAATAAAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112226971	T T	TAAATAAA others(29): Show TAAATAAAATAAAATAAAACAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	134	0.0075	36	c.-44 others(57): Show c.-444-79388_-444-79387insATAAAATAAAATAAAACAAAATAA AATAAAATAAAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN1_chr14_59590983_59875776	59606103	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0129 a0002c0002t0004g0129	1	172	0.0058	36	c.197 others(53): Show c.1974-598_1974-597insATATATATATATATATATATATATATAT ATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	172	0.0058	36	c.197 others(53): Show c.1974-620_1974-619insTTATATATATATATATATATATATATAT ATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59750252	A A	ATATTATA others(29): Show ATATTATATATTATATCTATAATATATATATTATATC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	172	0.0058	36	c.242 others(53): Show c.242-3772_242-3771insGATATAATATATATATTATAGATATAAT ATATAATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0115 a0002c0002t0006g0115	1	170	0.0059	36	c.142 others(53): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4RL1_chr17_1929677_2030334	1932064	C C	CAGGCGTG others(29): Show CAGGCGTGCATGTCCAGGGGAATTTGCTGAGGGCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0229 a0001c0002t0058g0229	1	384	0.0026	36	c.44 others(47): Show c.4431_*4432insCGAGCCCTCAGCAAATTCCCCTGGACATGCACGC CT	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding		2612		chr17	TogoVar
RTP3_chr3_46492976_46505950	46493833	G G	GCTCTCGC others(29): Show GCTCTCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03579.hp2 HG02717.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	426	0.0047	36	c.-42 others(47): Show c.-4230_-4229insCTCTCGCTCTCCCTCTCCCTCTCCCTCTCCCTCT CC	RTP3	ENSG00000163825.5	transcript	ENST00000296142.4	protein_coding		4142		chr3	TogoVar
RTP5_chr2_241864729_241878823	241878676	C C	CCCTGAGC others(29): Show CCCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03579.hp1 NA19240.hp2 HG03486.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0001 a0001c0001t0016g0001 a0001c0001t0002g0001 a0001c0001t0016g0001	3	365	0.0082	36	c.54 others(47): Show c.5402_*5403insCCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCA CA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4854		chr2	TogoVar
RUFY2_chr10_68338408_68412277	68359403	T T	TATACGTA others(29): Show TATACGTATATATGTGTGTATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	276	0.0036	36	c.155 others(55): Show c.1551-4003_1551-4002insGTATATATACGTATATATACACACAT ATATACGTAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	15/17			chr10	TogoVar
RUFY4_chr2_218064253_218095584	218068119	G G	GGAGGAGG others(29): Show GGAGGAGGGCAGGGGACTGGAGGATGGCAGGGGGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02148.hp2 HG02486.hp2 others(13): Show HG01081.hp2 HG02148.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 NA18968.hp2 NA18975.hp2 NA18986.hp2 NA19002.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0002c0004t0001	a0001c0001t0002g0158 a0001c0002t0001g0001 a0001c0002t0001g0011 others(9): Show a0001c0001t0002g0158 a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0090 a0001c0002t0001g0101 a0001c0003t0001g0035 a0002c0004t0001g0013 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0102	16	394	0.0406	36	c.-14 others(47): Show c.-1414_-1413insGAGGAGGGCAGGGGACTGGAGGATGGCAGGGGGT TA	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding		1133		chr2	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(29): Show ATATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	132	0.0076	36	c.88+ others(53): Show c.88+15411_88+15412insCACACACACACACACACACATATATATA TATATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34849279	A A	AATATATA others(29): Show AATATATATTATATATAAAATATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0053 a0001c0001t0008g0053	1	170	0.0059	36	c.613 others(55): Show c.613+10159_613+10194dupATAATATATATTATATATTTTATATA TAATATATAT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	170	0.0059	36	c.59- others(53): Show c.59-37308_59-37307insTATATATATATATATATATATATATATA TACACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	170	0.0059	36	c.59- others(53): Show c.59-37308_59-37307insTATATATATATATATATATATATATACA CACACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG04184.hp1 NA19079.hp1 HG02976.hp1 HG04184.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0300 a0001c0001t0001g0385 a0001c0001t0001g0122 a0001c0001t0001g0300 a0001c0001t0001g0385	3	480	0.0063	36	c.535 others(53): Show c.535-1948_535-1947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	210	0.0048	36	c.49+ others(53): Show c.49+20085_49+20086insATATATATATATATATATATATATATAT ATATTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158623502	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	210	0.0048	36	c.756 others(53): Show c.756-3294_756-3293insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXRA_chr9_134321455_134445585	134416016	G G	GGAACAGA others(29): Show GGAACAGAAGGAGGTGGTGGGGTTGGGGACCAGAGCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0043 a0001c0001t0050g0043	1	232	0.0043	36	c.611 others(53): Show c.611-1141_611-1106dupGAACAGAAGGAGGTGGTGGGGTTGGGGA CCAGAGCC	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RYR1_chr19_38428691_38592564	38502798	C C	CAGGGGCA others(29): Show CAGGGGCAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0052 a0001c0022t0001g0052	1	218	0.0046	36	c.783 others(51): Show c.7836-67_7836-66insGGGAGGGGGAGGGGGAGGGGGAGGGGCAGG GGGAGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237473431	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA21309.hp2 HG03516.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0019 a0002c0031 a0001c0019 a0002c0031	a0001c0019t0022 a0002c0031t0025 a0001c0019t0022 a0002c0031t0025	a0001c0019t0022g0035 a0002c0031t0025g0056 a0001c0019t0022g0035 a0002c0031t0025g0056	2	100	0.0200	36	c.170 others(55): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237710699	G G	GTAGATAG others(29): Show GTAGATAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02559.hp2 HG03486.hp2 HG01175.hp1 HG02559.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0028 a0001c0042 a0001c0004 a0001c0028 a0001c0042	a0001c0004t0004 a0001c0028t0007 a0001c0042t0017 a0001c0004t0004 a0001c0028t0007 a0001c0042t0017	a0001c0004t0004g0009 a0001c0028t0007g0062 a0001c0042t0017g0050 a0001c0004t0004g0009 a0001c0028t0007g0062 a0001c0042t0017g0050	3	100	0.0300	36	c.102 others(57): Show c.10231-1028_10231-1027insGATAGATAGATAGATAGATAGATA GATAGATAGATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	70/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100PBP_chr1_32812653_32863875	32842236	T T	TATATATA others(29): Show TATATATATATGTATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	340	0.0029	36	c.102 others(57): Show c.1025-10842_1025-10841insTATATATATGTATATATATATATA TATATATATACA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S100Z_chr5_76845014_76926650	76906976	G G	GTATATAT others(29): Show GTATATATATATACATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0169	1	348	0.0029	36	c.3- others(53): Show c.3-13729_*3-13728insCATATATATATATATATATATATATATA TATATATA	S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar

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