Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTTCC others(18): Show CTTTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0008 a0001c0043t0008	a0001c0043t0008g0176 a0001c0043t0008g0176	1	196	0.0051	25	c.348 others(44): Show c.348+21521_348+21522insTTTTTCCTTTCCTTTCCTTTCCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685628	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0007 a0001c0050t0007	a0001c0050t0007g0148 a0001c0050t0007g0148	1	196	0.0051	25	c.349 others(44): Show c.349-22213_349-22212insATATATATATATATATATATATATA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80711744	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0074 a0001c0005t0074	a0001c0005t0074g0008 a0001c0005t0074g0008	1	196	0.0051	25	c.507 others(42): Show c.507+3761_507+3762insTTTTTTTTTTTTTTTTTTTTTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD2_chr15_40564299_40579949	40569991	G G	GTGTTTTG others(18): Show GTGTTTTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	392	0.0026	25	c.606 others(38): Show c.606+48_606+49insTGTTTTGTTTTGTTTTGTTTTGTTT	RPUSD2	ENSG00000166133.18	transcript	ENST00000315616.12	protein_coding	1/2			chr15	TogoVar
RPUSD2_chr15_40564299_40579949	40569992	G G	GGTTTTGT others(18): Show GGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00733.hp1 HG00741.hp2 others(20): Show HG00609.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01192.hp1 HG01928.hp2 HG01952.hp1 HG01993.hp1 HG02132.hp1 HG02293.hp2 HG03688.hp1 NA18944.hp1 NA18970.hp2 NA18994.hp1 NA18999.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19075.hp1 NA19076.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0042	23	392	0.0587	25	c.606 others(38): Show c.606+50_606+74dupGTTTTGTTTTGTTTTGTTTTGTTTT	RPUSD2	ENSG00000166133.18	transcript	ENST00000315616.12	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
RPUSD2_chr15_40564299_40579949	40577079	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02896.hp2 NA19240.hp1 HG02451.hp1 HG02896.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0023	3	392	0.0077	25	c.28 others(36): Show c.2818_*2819insTTTTATTTTATTTTATTTTATTTTA	RPUSD2	ENSG00000166133.18	transcript	ENST00000315616.12	protein_coding		2131		chr15	TogoVar
RRAGB_chrX_55712749_55763774	55744387	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	276	0.0036	25	c.517 others(42): Show c.517-6697_517-6696insAAAAAAAAAAAAAAAAAAAAAAAAA	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	372	0.0027	25	c.445 others(42): Show c.445-2034_445-2033insATATATATATATATATATATATATA	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RRBP1_chr20_17608679_17687242	17684761	A A	ATCTGTGC others(18): Show ATCTGTGCACTGTGGACAACCTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	350	0.0029	25	c.-28 others(36): Show c.-2833_-2832insGCTGAGGTTGTCCACAGTGCACAGA	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding		2520		chr20	TogoVar
RRM1_chr11_4089799_4143932	4130086	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG02622.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0315 a0001c0001t0001g0233 a0001c0001t0001g0315	2	368	0.0054	25	c.176 others(42): Show c.1769+937_1769+938insATATATATATATATATATATATATT	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM1_chr11_4089799_4143932	4130087	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0334 a0001c0003t0002g0334	1	368	0.0027	25	c.176 others(42): Show c.1769+937_1769+938insATATATATATATATATATATATATA	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18			chr11	TogoVar
RRM2B_chr8_102199502_102243961	102215944	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	386	0.0026	25	c.685 others(42): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTTTT	RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8			chr8	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18747.hp1 NA19062.hp1 HG02559.hp1 NA18747.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0168 a0001c0001t0003g0181 a0001c0001t0003g0160 a0001c0001t0003g0168 a0001c0001t0003g0181	3	336	0.0089	25	c.587 others(44): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSF1_chr11_77655009_77825722	77658011	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 NA19004.hp1 HG00140.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0326 a0001c0001t0001g0264 a0001c0001t0001g0326	2	352	0.0057	25	c.89 others(36): Show c.8905_*8906insTTTTTTTTTTTTTTTTTTTTTTTTT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding		1997		chr11	TogoVar
RSPH3_chr6_158967871_159005202	158984434	T T	TTTATATA others(18): Show TTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18982.hp2 NA18954.hp1 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0166 a0002c0002t0002g0185 a0002c0002t0002g0166 a0002c0002t0002g0185	2	302	0.0066	25	c.347 others(40): Show c.347-628_347-627insTATATATATATATATATATATATAA	RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7			chr6	TogoVar
RSPH3_chr6_158967871_159005202	158984475	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18943.hp2 HG01934.hp2 NA18943.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0017 a0002c0002 a0015c0017	a0002c0002t0002 a0015c0017t0002 a0002c0002t0002 a0015c0017t0002	a0002c0002t0002g0204 a0015c0017t0002g0194 a0002c0002t0002g0204 a0015c0017t0002g0194	2	302	0.0066	25	c.347 others(40): Show c.347-669_347-668insTATATATATATATATATATATATAT	RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7			chr6	TogoVar
RSPH4A_chr6_116611479_116637985	116623097	C C	CTTGTTTT others(18): Show CTTGTTTTGTTTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03831.hp1 HG03017.hp2 HG03831.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0045 a0004c0004t0001g0045	2	398	0.0050	25	c.921 others(40): Show c.921+102_921+126dupTGTTTTGTTTTGTTTTGTTTTGTTT	RSPH4A	ENSG00000111834.13	transcript	ENST00000229554.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSPO3_chr6_127113671_127204481	127117836	A A	AGGAAGGA others(18): Show AGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0143 a0001c0001t0022g0143	1	310	0.0032	25	c.-13 others(36): Show c.-1357_-1356insGGAAGGAAGGAAGGAAGGAAGGAAG	RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding		834		chr6	TogoVar
RTL10_chr22_19841146_19859874	19847803	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG04184.hp1 HG02602.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0030 a0001c0001t0027g0030	2	418	0.0048	25	c.33 others(36): Show c.3363_*3364insTTTTTTTTTTTTTTTTTTTTTTTTT	RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3	3363		chr22	TogoVar
RTL10_chr22_19841146_19859874	19847804	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0119 a0001c0001t0101g0119	1	418	0.0024	25	c.33 others(36): Show c.3362_*3363insTTTTTTTTTTTTTTTTTTTTTTTTT	RTL10	ENSG00000215012.9	transcript	ENST00000328554.9	protein_coding	3/3	3362		chr22	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02897.hp1 HG03453.hp2 others(1): Show HG02723.hp2 HG02897.hp1 HG03453.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0148 a0002c0002t0007g0002 a0002c0002t0007g0004 others(1): Show a0002c0002t0003g0148 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0007g0005	4	170	0.0235	25	c.142 others(42): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN3_chr11_63676500_63764882	63735601	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	170	0.0059	25	c.253 others(46): Show c.2531-14390_2531-14389insCTCTCTCTCTCTCTCTCTCTCTCT C	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	3/8			chr11	TogoVar
RUFY1_chr5_179545554_179615012	179550532	G G	GCGCCCGC others(18): Show GCGCCCGCCCCCACCCCGCGCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0141 a0001c0007t0001g0142 a0001c0007t0001g0015 a0001c0007t0001g0141 a0001c0007t0001g0142	3	376	0.0080	25	c.-38 others(32): Show c.-38_-37insCGCCCGCCCCCACCCCGCGCCCGCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		21		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(18): Show CCGCCCGCCCGCCCGCCCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA19055.hp2 NA20752.hp1 HG04115.hp1 NA19055.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0094	3	376	0.0080	25	c.-34 others(32): Show c.-34_-33insCGCCCGCCCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02148.hp1 HG03688.hp1 HG02135.hp2 HG02148.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0093	3	376	0.0080	25	c.891 others(42): Show c.891-1268_891-1267insTTTTTTTTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0235 a0001c0001t0008g0235	1	254	0.0039	25	c.759 others(40): Show c.759-523_759-522insAAAAAAAAAAAAAAATATATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87624839	T T	TAATGACA others(18): Show TAATGACACTCCATACATGCAAAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0009 a0001c0001t0010g0009	1	202	0.0050	25	c.-39 others(36): Show c.-3985_-3984insAATGACACTCCATACATGCAAAACA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		3558		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(18): Show TATATATATAGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0062 a0001c0001t0024g0062	1	202	0.0050	25	c.-27 others(36): Show c.-2733_-2732insATATATATAGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626091	T T	TATATATA others(18): Show TATATATATTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0116	1	202	0.0050	25	c.-27 others(36): Show c.-2733_-2732insATATATATTGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2306		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626198	A A	ATGTCATA others(18): Show ATGTCATATATATGTGTCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0125 a0001c0001t0031g0125	1	202	0.0050	25	c.-26 others(36): Show c.-2626_-2625insTGTCATATATATGTGTCATATATAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2199		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626246	A A	ATTGTCAT others(18): Show ATTGTCATATATATGTGTCATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG01069.hp1 HG02895.hp1 HG02897.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0065 a0001c0001t0071 others(1): Show a0001c0001t0007 a0001c0001t0065 a0001c0001t0071 a0001c0001t0072	a0001c0001t0007g0118 a0001c0001t0065g0144 a0001c0001t0071g0142 others(1): Show a0001c0001t0007g0118 a0001c0001t0065g0144 a0001c0001t0071g0142 a0001c0001t0072g0143	4	202	0.0198	25	c.-25 others(36): Show c.-2578_-2577insTTGTCATATATATGTGTCATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2151		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18522.hp1 HG02818.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0124 a0001c0001t0027g0109 a0001c0001t0004g0124 a0001c0001t0027g0109	2	170	0.0118	25	c.59- others(42): Show c.59-16626_59-16625insTTTTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01169.hp2 HG02615.hp1 others(2): Show HG00642.hp1 HG01169.hp2 HG02615.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0003 a0001c0005t0002	a0001c0001t0001g0129 a0001c0001t0002g0013 a0001c0001t0011g0003 others(2): Show a0001c0001t0001g0129 a0001c0001t0002g0013 a0001c0001t0011g0003 a0001c0002t0003g0127 a0001c0005t0002g0113	5	170	0.0294	25	c.59- others(42): Show c.59-74381_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX3_chr1_24894511_24935276	24907897	C C	CTAAACCT others(18): Show CTAAACCTCTACAACACGCGGTGATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	386	0.0026	25	c.545 others(40): Show c.545-481_545-480insCATCACCGCGTGTTGTAGAGGTTTA	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4			chr1	TogoVar
RUNX3_chr1_24894511_24935276	24908158	C C	CGACACGC others(18): Show CGACACGCGGTGATCCGAACCTCTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0186 a0001c0001t0011g0186	1	386	0.0026	25	c.545 others(40): Show c.545-742_545-741insATAGAGGTTCGGATCACCGCGTGTC	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4			chr1	TogoVar
RUNX3_chr1_24894511_24935276	24908183	C C	CGACACGC others(18): Show CGACACGCGGTGATCCGAACCTCTAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	386	0.0026	25	c.545 others(40): Show c.545-767_545-766insATAGAGGTTCGGATCACCGCGTGTC	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding	3/4			chr1	TogoVar
RWDD2B_chr21_28999384_29024349	29012270	T T	TGTACCCA others(18): Show TGTACCCAACAGCTCACTGAGAACGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	438	0.0023	25	c.68- others(40): Show c.68-3674_68-3650dupCCGTTCTCAGTGAGCTGTTGGGTAC	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	480	0.0021	25	c.535 others(42): Show c.535-1972_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	210	0.0048	25	c.49+ others(42): Show c.49+20085_49+20086insATATATATATATATTTTTTTTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542110	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	210	0.0048	25	c.49+ others(42): Show c.49+20085_49+20086insATATATATATATATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17			chr4	TogoVar
RYK_chr3_134152133_134255859	134199972	C C	CACCAATC others(18): Show CACCAATCAGCACTCTGTAAAAACAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	376	0.0027	25	c.788 others(42): Show c.788+2733_788+2757dupCTGTTTTTACAGAGTGCTGATTGGT	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	6/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0203 a0006c0007t0002g0203	1	218	0.0046	25	c.102 others(46): Show c.10259+1241_10259+1265dupAAAAAAAAAAAAAAAAAAAAAAAA A	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237117671	C C	CCTTCTCT others(18): Show CCTTCTCTTCTCTTCTCTTCTCTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03831.hp2 HG02572.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0027 a0002c0038 a0001c0027 a0002c0038	a0001c0027t0002 a0002c0038t0043 a0001c0027t0002 a0002c0038t0043	a0001c0027t0002g0085 a0002c0038t0043g0096 a0001c0027t0002g0085 a0002c0038t0043g0096	2	100	0.0200	25	c.48+ others(42): Show c.48+75165_48+75189dupTCTCTTCTCTTCTCTTCTCTTCTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(18): Show CCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp1 NA19066.hp2 HG02055.hp2 HG03471.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0001t0015 a0001c0007t0001 a0001c0001t0004 a0001c0001t0015 a0001c0007t0001	a0001c0001t0004g0036 a0001c0001t0015g0069 a0001c0007t0001g0020 a0001c0001t0004g0036 a0001c0001t0015g0069 a0001c0007t0001g0020	3	100	0.0300	25	c.49- others(42): Show c.49-32534_49-32510dupTTTCCTTTCCTTTCCTTTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237262245	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0033 a0001c0016t0033	a0001c0016t0033g0024 a0001c0016t0033g0024	1	100	0.0100	25	c.49- others(40): Show c.49-8249_49-8225dupTTTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237346367	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0065	1	100	0.0100	25	c.274 others(42): Show c.274-9581_274-9580insAAAAAAAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237406157	T T	TCCCTTCC others(18): Show TCCCTTCCCTTCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(33): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01496.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03831.hp1 HG03831.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA18962.hp2 NA19066.hp1 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0026 a0001c0027 a0001c0028 a0001c0036 a0001c0040 a0001c0042 a0002c0009 a0002c0012 a0003c0006 a0003c0013 a0003c0043 a0005c0033	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 others(29): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0004t0020 a0001c0005t0006 a0001c0005t0011 a0001c0007t0001 a0001c0007t0024 a0001c0008t0028 a0001c0011t0044 a0001c0026t0004 a0001c0027t0002 a0001c0028t0007 a0001c0036t0003 a0001c0040t0039 a0001c0042t0017 a0002c0009t0002 a0002c0009t0004 a0002c0009t0008 a0002c0012t0023 a0003c0006t0004 a0003c0013t0003 a0003c0043t0002 a0005c0033t0008	a0001c0001t0007g0011 a0001c0002t0001g0070 a0001c0002t0001g0075 others(33): Show a0001c0001t0007g0011 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0002g0022 a0001c0002t0002g0076 a0001c0002t0009g0021 a0001c0003t0001g0063 a0001c0003t0001g0078 a0001c0003t0003g0084 a0001c0003t0004g0016 a0001c0003t0004g0060 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0004t0004g0045 a0001c0004t0018g0047 a0001c0004t0020g0093 a0001c0005t0006g0029 a0001c0005t0011g0061 a0001c0007t0001g0020 a0001c0007t0024g0048 a0001c0008t0028g0039 a0001c0011t0044g0054 a0001c0026t0004g0055 a0001c0027t0002g0085 a0001c0028t0007g0062 a0001c0036t0003g0038 a0001c0040t0039g0095 a0001c0042t0017g0050 a0002c0009t0002g0079 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0023g0074 a0003c0006t0004g0088 a0003c0013t0003g0086 a0003c0043t0002g0068 a0005c0033t0008g0049	36	100	0.3600	25	c.774 others(44): Show c.774-10878_774-10877insCCCCTCCCCTCCCCTTCCCTTCCCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01928.hp1 HG02572.hp2 others(1): Show HG01496.hp1 HG01928.hp1 HG02572.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0024 a0001c0002 a0001c0003 a0002c0024	a0001c0002t0002 a0001c0002t0031 a0001c0003t0002 others(1): Show a0001c0002t0002 a0001c0002t0031 a0001c0003t0002 a0002c0024t0005	a0001c0002t0002g0022 a0001c0002t0031g0033 a0001c0003t0002g0087 others(1): Show a0001c0002t0002g0022 a0001c0002t0031g0033 a0001c0003t0002g0087 a0002c0024t0005g0013	4	100	0.0400	25	c.100 others(44): Show c.1006-4841_1006-4840insTTTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623386	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0004 a0001c0005t0012g0004	1	100	0.0100	25	c.591 others(42): Show c.5917-379_5917-378insCTTTCTTTCTTTCTTTCTTTCTTTC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237631613	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0001 a0001c0001t0041g0001	1	100	0.0100	25	c.655 others(41): Show c.6555+80_6555+104dupTTTTTTTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	42/104		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)