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
RAB3A_chr19_18191784_18209042	18201259	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0065 a0001c0001t0021g0066 a0001c0001t0005g0065 a0001c0001t0021g0066	2	370	0.0054	27	c.229 others(42): Show c.229-815_229-814insCTTTCTTTCTTTCTTTCTTTCTTTCTT	RAB3A	ENSG00000105649.10	transcript	ENST00000222256.9	protein_coding	2/4			chr19	TogoVar
RAB3C_chr5_58578075_58864394	58596861	A A	ATTATATT others(20): Show ATTATATTTAATATATAATACATAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	220	0.0046	27	c.24+ others(44): Show c.24+13629_24+13630insTTATATTTAATATATAATACATAATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58845612	A A	ATATATAT others(20): Show ATATATATATATATAGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0118 a0001c0001t0036g0118	1	220	0.0046	27	c.497 others(44): Show c.497-5551_497-5550insATATATATATATAGTGTGTGTGTGTGT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3GAP1_chr2_135047292_135175710	135117409	T T	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	280	0.0036	27	c.648 others(44): Show c.648+2048_648+2074dupTCTTCTTCTTCTTCTTCTTCTTCTTCT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB40C_chr16_585066_634268	601815	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20905.hp1 HG01255.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0280 a0001c0001t0002g0281	2	350	0.0057	27	c.142 others(46): Show c.142+11386_142+11412dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB5B_chr12_55969078_56001683	55996003	A A	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0025 a0001c0001t0091g0025	1	382	0.0026	27	c.37 others(38): Show c.3792_*3793insATATATATTTTTTTTTTTTTTTTTTTT	RAB5B	ENSG00000111540.16	transcript	ENST00000360299.10	protein_coding	6/6	3793	INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB5IF_chr20_36600779_36617557	36609165	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	398	0.0025	27	c.219 others(42): Show c.219-435_219-409dupCACACACACACACACACACACACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6A_chr11_73670638_73766074	73685588	G G	GAAAGTCT others(20): Show GAAAGTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02280.hp1 HG02451.hp2 others(5): Show HG01106.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 others(5): Show a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302	8	354	0.0226	27	c.496 others(44): Show c.496-5869_496-5868insAAAAAAAAAAAAAAAAAAAAAGACTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	6/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739280	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	354	0.0028	27	c.71- others(42): Show c.71-8458_71-8457insATATATATATATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739282	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	354	0.0028	27	c.71- others(42): Show c.71-8460_71-8459insATATATATATATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0322	1	354	0.0028	27	c.71- others(42): Show c.71-8462_71-8461insATATATATATATATATTTTTTTTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04204.hp2 HG01074.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0319 a0001c0001t0005g0326 a0001c0001t0005g0319 a0001c0001t0005g0326	2	354	0.0057	27	c.71- others(42): Show c.71-8462_71-8461insATATATATATATATATATTTTTTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18988.hp2 HG01081.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0123 a0001c0001t0001g0136	2	354	0.0057	27	c.71- others(42): Show c.71-8462_71-8461insATATATATATATATATATATATATATT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	354	0.0028	27	c.71- others(42): Show c.71-8462_71-8461insATATATATATATATATATATATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18950.hp2 NA18964.hp1 others(1): Show HG01074.hp2 NA18950.hp2 NA18964.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0176	4	314	0.0127	27	c.53+ others(40): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7A_chr3_128721183_128819798	128809936	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02922.hp2 HG01433.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0002g0056 a0001c0001t0001g0131 a0001c0001t0002g0056	2	314	0.0064	27	c.528 others(44): Show c.528+2269_528+2295dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(20): Show CCCCACCATCCCCACCAGGCCCACCAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01192.hp1 others(7): Show HG01070.hp2 HG01071.hp2 HG01192.hp1 HG01884.hp2 HG02258.hp1 HG02809.hp1 HG02896.hp1 HG03654.hp1 HG03927.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0243 a0001c0001t0002g0010 a0001c0001t0002g0050 others(6): Show a0001c0001t0001g0243 a0001c0001t0002g0010 a0001c0001t0002g0050 a0001c0001t0002g0073 a0001c0001t0002g0086 a0001c0001t0002g0223 a0001c0001t0002g0287 a0001c0001t0009g0129 a0001c0001t0011g0279	10	330	0.0303	27	c.397 others(40): Show c.397-73_397-72insCCTGGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(20): Show CCCCACCATCCCCACCATCCCCACCAGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	330	0.0030	27	c.397 others(40): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985751	T T	TCAGGCCC others(20): Show TCAGGCCCACCAGGCCCACCATCCCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01257.hp2 others(15): Show HG00140.hp2 HG00735.hp1 HG01257.hp2 HG01952.hp2 HG01981.hp2 HG02027.hp2 HG02074.hp2 HG02155.hp2 HG02300.hp2 HG03704.hp1 HG03704.hp2 NA18944.hp2 NA18947.hp1 NA18977.hp2 NA19010.hp2 NA19012.hp2 NA19068.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0059 others(14): Show a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0193 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0247 a0001c0001t0017g0219	18	330	0.0546	27	c.397 others(40): Show c.397-87_397-86insGTGGGGATGGTGGGCCTGGTGGGCCTG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205985805	C C	CCAGGCCC others(20): Show CCAGGCCCACCAGGCCCACCATCCCCAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	330	0.0030	27	c.397 others(42): Show c.397-141_397-140insATGGGGATGGTGGGCCTGGTGGGCCTG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174534775	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0185 a0001c0002t0003g0185	1	272	0.0037	27	c.171 others(50): Show c.1711-102597_1711-102571dupAAAAAAAAAAAAAAAAAAAAAA AAAAA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp2 HG02970.hp2 others(2): Show HG01884.hp1 HG02886.hp2 HG02970.hp2 NA18612.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0001 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0031 a0001c0001t0010g0203 a0001c0001t0010g0204 others(2): Show a0001c0001t0001g0031 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0221 a0001c0001t0011g0214	5	272	0.0184	27	c.234 others(48): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAC2_chr22_37220270_37249269	37245780	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG02258.hp1 HG02647.hp2 others(8): Show HG01516.hp2 HG02258.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0002t0016 a0001c0004t0005	a0001c0001t0002g0192 a0001c0001t0005g0208 a0001c0002t0003g0004 others(2): Show a0001c0001t0002g0192 a0001c0001t0005g0208 a0001c0002t0003g0004 a0001c0002t0016g0189 a0001c0004t0005g0014	11	448	0.0246	27	c.-16 others(38): Show c.-1633_-1632insATTATTATTATTATTATTATTATTATT	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding		1512		chr22	TogoVar
RACGAP1_chr12_49984162_50030494	49991479	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	324	0.0031	27	c.171 others(44): Show c.1714+518_1714+519insATATATATATATATATATATATATATA	RACGAP1	ENSG00000161800.13	transcript	ENST00000312377.10	protein_coding	15/16			chr12	TogoVar
RAD51D_chr17_35087221_35124860	35115982	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	416	0.0024	27	c.263 others(44): Show c.263+2492_263+2518dupCTTTCTTTCTTTCTTTCTTTCTTTCTT	RAD51D	ENSG00000185379.21	transcript	ENST00000345365.11	protein_coding	3/9			chr17	TogoVar
RAD51D_chr17_35087221_35124860	35122207	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0062 a0001c0001t0029g0062	1	416	0.0024	27	c.-25 others(38): Show c.-2595_-2594insTATATATATATATATATATATATATAT	RAD51D	ENSG00000185379.21	transcript	ENST00000345365.11	protein_coding		2348		chr17	TogoVar
RAD51D_chr17_35087221_35124860	35123994	A A	AAATGTCA others(20): Show AAATGTCATATGTGCTTTAGACTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	416	0.0024	27	c.-43 others(38): Show c.-4382_-4381insGACAGAGTCTAAAGCACATATGACATT	RAD51D	ENSG00000185379.21	transcript	ENST00000345365.11	protein_coding		4135		chr17	TogoVar
RAD54L2_chr3_51533719_51673660	51626436	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	276	0.0036	27	c.140 others(44): Show c.140-1091_140-1090insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
RADIL_chr7_4792055_4888716	4818188	G G	GTGGGGGC others(20): Show GTGGGGGCTGCCTGTCCGGGCCGCATCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0005 a0005c0003t0005	a0005c0003t0005g0095 a0005c0003t0005g0095	1	292	0.0034	27	c.161 others(44): Show c.1616-838_1616-837insAGATGCGGCCCGGACAGGCAGCCCCCA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	6/14			chr7	TogoVar
RAE1_chr20_57346255_57384202	57350858	G G	GGGGGACG others(20): Show GGGGGACGGGGGACGGGGGACGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0128 a0001c0003t0013g0128	1	342	0.0029	27	c.-57 others(36): Show c.-572_-571insGGGGACGGGGGACGGGGGACGGGGGAC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		396		chr20	TogoVar
RAE1_chr20_57346255_57384202	57350889	C C	CGGGGGGG others(20): Show CGGGGGGGGCGGGGGGCGGGGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	342	0.0029	27	c.-54 others(36): Show c.-541_-540insGGGGGGGGCGGGGGGCGGGGGGGGGCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		365		chr20	TogoVar
RALGAPA1_chr14_35533356_35814295	35541040	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0218 a0011c0013t0001g0218	1	272	0.0037	27	c.24 others(44): Show c.24-1351_*24-1350insAAAAAAAAAAAAAAAAAAAAAAAAAAA	RALGAPA1	ENSG00000174373.17	transcript	ENST00000680220.1	protein_coding	41/41			chr14	TogoVar
RALGPS1_chr9_126909782_127228166	126958142	A A	ATAAATAT others(20): Show ATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	276	0.0036	27	c.-65 others(44): Show c.-65-4083_-65-4082insTAAATATATATATATATATATATATAT	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	1/18			chr9	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(20): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18972.hp2 NA18946.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0205 a0001c0001t0001g0171 a0001c0001t0001g0205	2	276	0.0073	27	c.911 others(44): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAAAA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALYL_chr8_84178274_84926844	84372886	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	82	0.0122	27	c.-23 others(48): Show c.-23-156410_-23-156384dupTTTTTTTTTTTTTTTTTTTTTTTT TTT	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAMAC_chr15_82981210_82996057	82989374	T T	TTTTTTCC others(20): Show TTTTTTCCTTGCTGTTCAAGTGCGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0047 a0003c0003t0008g0047	1	438	0.0023	27	c.170 others(42): Show c.170+192_170+218dupCCTTGCTGTTCAAGTGCGTGTGTTTTT	RAMAC	ENSG00000169612.4	transcript	ENST00000304191.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
RANBP10_chr16_67718070_67811560	67785731	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	152	0.0066	27	c.348 others(46): Show c.348-13646_348-13645insTTTTTTTTTTTTTTTTTTTTTTTTTT T	RANBP10	ENSG00000141084.12	transcript	ENST00000317506.8	protein_coding	2/13			chr16	TogoVar
RANBP17_chr5_170857018_171305015	170916128	C C	CATGCGTT others(20): Show CATGCGTTATATTCTATATTGCATTATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp1 others(72): Show HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp1 NA18612.hp2 NA18940.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18972.hp2 NA18989.hp2 NA19000.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19064.hp2 NA19070.hp1 NA19080.hp2 NA19085.hp2 NA20752.hp1 NA21309.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0002 a0005c0016 others(2): Show a0001c0001 a0001c0002 a0005c0016 a0006c0014 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0002t0003 a0005c0016t0001 a0006c0014t0002 a0007c0013t0001	a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0145 others(72): Show a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0004g0001 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0114 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0126 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0151 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0007g0172 a0001c0001t0007g0186 a0001c0001t0010g0152 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0173 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0191 a0001c0002t0003g0192 a0005c0016t0001g0174 a0006c0014t0002g0127 a0007c0013t0001g0111	75	192	0.3906	27	c.835 others(42): Show c.835-130_835-104dupTTGCATTATAATGCGTTATATTCTATA	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP17_chr5_170857018_171305015	170916182	A A	AATGCGTT others(20): Show AATGCGTTATATTCTATATTGCATTATC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG03225.hp2 others(1): Show HG02486.hp2 HG02886.hp2 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 others(1): Show a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0008g0112	4	192	0.0208	27	c.835 others(42): Show c.835-257_835-256insCATGCGTTATATTCTATATTGCATTAT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RANBP3_chr19_5911139_5983140	5937056	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02922.hp2 HG03209.hp1 others(1): Show HG02683.hp2 HG02922.hp2 HG03209.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0152 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0152 a0001c0001t0001g0186 a0001c0001t0001g0203	4	322	0.0124	27	c.407 others(44): Show c.407-3604_407-3578dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	RANBP3	ENSG00000031823.14	transcript	ENST00000340578.10	protein_coding	5/16			chr19	TogoVar
RANBP9_chr6_13616498_13716835	13705868	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	360	0.0028	27	c.571 others(44): Show c.571+5066_571+5067insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	1/13			chr6	TogoVar
RAP1GDS1_chr4_98256384_98448858	98438589	T T	TATATATA others(20): Show TATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	242	0.0041	27	c.169 others(46): Show c.1696+1521_1696+1522insATATATATATATATATATATATATAT C	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	14/14			chr4	TogoVar
RAPGEF1_chr9_131571775_131745076	131730697	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp2 NA18963.hp1 HG01433.hp1 HG02055.hp2 NA18963.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0004c0011t0006 a0001c0001t0001 a0004c0011t0006	a0001c0001t0001g0299 a0001c0001t0001g0300 a0004c0011t0006g0015 a0001c0001t0001g0299 a0001c0001t0001g0300 a0004c0011t0006g0015	3	368	0.0082	27	c.61+ others(42): Show c.61+9072_61+9073insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	1/26			chr9	TogoVar
RAPGEF2_chr4_159098079_159365173	159337889	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	194	0.0052	27	c.213 others(44): Show c.2136-398_2136-397insAAAAAAAAAAAAAAAAAAAAAAAAAAA	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF5_chr7_22113236_22362154	22163113	T T	TTTTCATT others(20): Show TTTTCATTTTAAAATAAAATGAAAATTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0071 a0002c0003t0071	a0002c0003t0071g0224 a0002c0003t0071g0224	1	330	0.0030	27	c.128 others(44): Show c.1284-599_1284-573dupTAATTTTCATTTTATTTTAAAATGAAA	RAPGEF5	ENSG00000136237.20	transcript	ENST00000665637.1	protein_coding	12/25			chr7	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02572.hp1 others(4): Show HG01891.hp1 HG02145.hp1 HG02572.hp1 HG02809.hp2 HG02886.hp2 HG03041.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 others(4): Show a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0279 a0001c0001t0001g0320 a0001c0001t0001g0370	7	394	0.0178	27	c.187 others(42): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA1_chr5_87262883_87396916	87338533	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	282	0.0036	27	c.101 others(44): Show c.1017+442_1017+443insTATATATATATATATATATATATATAT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	282	0.0036	27	c.101 others(44): Show c.1017+444_1017+445insTATATATATATATATATATATTTTTTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp2 HG02717.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0251 a0001c0001t0006g0252 a0001c0001t0001g0251 a0001c0001t0006g0252	2	282	0.0071	27	c.101 others(44): Show c.1017+444_1017+445insTATATATATATATTTTTTTTTTTTTTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA3_chr13_113972783_114137623	114007705	T T	TAATACCA others(20): Show TAATACCAGTGGAGACAGAATCTGGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	67	0.0149	27	c.166 others(44): Show c.1669-126_1669-100dupTGCCCAGATTCTGTCTCCACTGGTATT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	17/23			chr13	TogoVar

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Search Results (Total: 7463 hits)