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
RIGI_chr9_32450302_32531196	32504716	T T	TATATAAA others(22): Show TATATAAAATATATAAAATATATTTAATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp1 NA18970.hp2 others(8): Show HG02040.hp1 HG02056.hp1 NA18970.hp2 NA18974.hp2 NA18986.hp2 NA19000.hp1 NA19012.hp1 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19074.hp2	a0003 a0003	a0003c0008 a0003c0009 a0003c0008 a0003c0009	a0003c0008t0001 a0003c0008t0002 a0003c0008t0003 others(2): Show a0003c0008t0001 a0003c0008t0002 a0003c0008t0003 a0003c0008t0007 a0003c0009t0003	a0003c0008t0001g0240 a0003c0008t0002g0218 a0003c0008t0002g0221 others(8): Show a0003c0008t0001g0240 a0003c0008t0002g0218 a0003c0008t0002g0221 a0003c0008t0002g0227 a0003c0008t0002g0228 a0003c0008t0003g0220 a0003c0008t0003g0222 a0003c0008t0003g0223 a0003c0008t0003g0241 a0003c0008t0007g0244 a0003c0009t0003g0219	11	344	0.0320	29	c.107 others(46): Show c.107-3806_107-3778dupGTATTAAATATATTTTATATATTTTATA T	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIGI_chr9_32450302_32531196	32508239	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03453.hp1 HG00323.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0020 a0002c0004 a0001c0020 a0002c0004	a0001c0020t0008 a0002c0004t0005 a0001c0020t0008 a0002c0004t0005	a0001c0020t0008g0257 a0002c0004t0005g0301 a0001c0020t0008g0257 a0002c0004t0005g0301	2	344	0.0058	29	c.107 others(46): Show c.107-7301_107-7300insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIMOC1_chr5_41899344_41926636	41901253	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02717.hp2 HG02976.hp1 others(3): Show HG02622.hp1 HG02717.hp2 HG02976.hp1 HG03927.hp2 NA19005.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0004 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0002g0004	6	318	0.0189	29	c.-31 others(40): Show c.-3115_-3114insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding		3090		chr5	TogoVar
RIMS1_chr6_71881550_72408145	72152838	G G	GTATATAT others(22): Show GTATATATGGAATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	140	0.0071	29	c.472 others(48): Show c.472-26615_472-26587dupATGGAATATATGTATATATATGTATA TAT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	104100837	A A	ATATATAT others(22): Show ATATATATGTATTATATATGTAATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0023 a0001c0001t0015g0023	1	172	0.0058	29	c.386 others(48): Show c.3866+7205_3866+7233dupTTATATATGTAATATATATTATATAT GTA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS3_chr1_40615680_40670682	40635250	T T	TAAACCAG others(22): Show TAAACCAGTGACTTTCAGATTTTTTAATGC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	376	0.0027	29	c.359 others(44): Show c.359+637_359+665dupGCATTAAAAAATCTGAAAGTCACTGGTTT	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding	4/7			chr1	TogoVar
RIN3_chr14_92508781_92693994	92542919	C C	CGGGCTAG others(22): Show CGGGCTAGAGGGAAGGGGGCAGGGCTGGGG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0069 a0016c0022t0001g0069	1	334	0.0030	29	c.45- others(46): Show c.45-12831_45-12803dupGGGCTAGAGGGAAGGGGGCAGGGCTGGG G	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547121	A A	ATTATTAT others(22): Show ATTATTATTATAAAGTAAATTATCTTTATT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03688.hp1 HG02027.hp1 HG03688.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0051 a0002c0002 a0005c0051	a0002c0002t0006 a0005c0051t0001 a0002c0002t0006 a0005c0051t0001	a0002c0002t0006g0040 a0005c0051t0001g0271 a0002c0002t0006g0040 a0005c0051t0001g0271	2	334	0.0060	29	c.45- others(44): Show c.45-8616_45-8588dupGTAAATTATCTTTATTTTATTATTATAAA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561040	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0157 a0004c0004t0002g0157	1	334	0.0030	29	c.249 others(46): Show c.249+5085_249+5086insTATATATATATATATATATATATATATA T	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RIN3_chr14_92508781_92693994	92561042	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01934.hp2 NA18963.hp2 HG00558.hp2 HG01934.hp2 NA18963.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0010 a0001c0001 a0003c0003 a0008c0010	a0001c0001t0001 a0003c0003t0001 a0008c0010t0002 a0001c0001t0001 a0003c0003t0001 a0008c0010t0002	a0001c0001t0001g0024 a0003c0003t0001g0027 a0008c0010t0002g0223 a0001c0001t0001g0024 a0003c0003t0001g0027 a0008c0010t0002g0223	3	334	0.0090	29	c.249 others(46): Show c.249+5087_249+5088insTATATATATATATATATATATATATATA T	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18979.hp2 NA19079.hp1 NA18944.hp2 NA18979.hp2 NA19079.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0010 a0002c0002t0001 a0005c0006t0002 a0001c0001t0010 a0002c0002t0001 a0005c0006t0002	a0001c0001t0010g0163 a0002c0002t0001g0134 a0005c0006t0002g0162 a0001c0001t0010g0163 a0002c0002t0001g0134 a0005c0006t0002g0162	3	334	0.0090	29	c.249 others(46): Show c.249+5089_249+5090insTATATATATATATATATATATATATATA T	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	368	0.0027	29	c.29 others(40): Show c.2929_*2930insAAAATATATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	368	0.0027	29	c.29 others(40): Show c.2929_*2930insTATATATATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RIOK3_chr18_23448287_23488140	23469335	C C	CCCCCTCT others(22): Show CCCCCTCTCTCCCCCTCTCTCCCCCTCTCT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	402	0.0025	29	c.815 others(46): Show c.815+1809_815+1810insCCCCTCTCTCCCCCTCTCTCCCCCTCTC T	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12			chr18	TogoVar
RIOK3_chr18_23448287_23488140	23469394	T T	TCCCCTCT others(22): Show TCCCCTCTCTCCCCTCTCTCCCCTCTCTCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	402	0.0025	29	c.815 others(46): Show c.815+1870_815+1871insCCTCTCTCCCCTCTCTCCCCTCTCTCCC C	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIPPLY3_chr21_37001702_37024662	37007400	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0296 a0001c0001t0035g0296	1	434	0.0023	29	c.104 others(44): Show c.104+550_104+551insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RIPPLY3	ENSG00000183145.9	transcript	ENST00000329553.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
RIT2_chr18_42738227_43120685	42837153	C C	CTTTTCTT others(22): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	240	0.0042	29	c.426 others(48): Show c.426+86418_426+86419insAAAAAAAAAAAAAAAAAAAAAAAAGA AAA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02630.hp2 others(2): Show HG01891.hp1 HG02055.hp1 HG02630.hp2 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0132 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0184	5	404	0.0124	29	c.911 others(46): Show c.911-1428_911-1427insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RMND5A_chr2_86715291_86783041	86716925	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	304	0.0033	29	c.-37 others(40): Show c.-3743_-3742insAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding		3365		chr2	TogoVar
RMND5A_chr2_86715291_86783041	86762671	T T	TATATATA others(22): Show TATATATATCATATATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG02055.hp2 others(13): Show HG00642.hp1 HG01109.hp2 HG02055.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0021	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0090 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0019g0018 a0001c0001t0021g0006	16	304	0.0526	29	c.522 others(46): Show c.522-2337_522-2336insGATATATATCATATATATCATATATATA T	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(22): Show AAAGAAAGAAAGGAAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	29	c.-36 others(40): Show c.-3657_-3656insAAGAAAGAAAGGAAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASET2_chr6_166917113_166961550	166953879	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19090.hp2 HG02027.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0115 a0001c0002t0125 a0001c0001t0115 a0001c0002t0125	a0001c0001t0115g0228 a0001c0002t0125g0227 a0001c0001t0115g0228 a0001c0002t0125g0227	2	346	0.0058	29	c.87- others(44): Show c.87-1332_87-1331insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	420	0.0024	29	c.-38 others(42): Show c.-38-20_-38-19insATATATATATATATATATATATTTTTTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	420	0.0024	29	c.-38 others(42): Show c.-38-20_-38-19insATATATATATATATATATATATATATTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RNF130_chr5_179950067_180076759	179998886	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18962.hp1 NA18974.hp2 others(4): Show HG02293.hp2 NA18962.hp1 NA18974.hp2 NA18998.hp1 NA19068.hp1 NA19085.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0004t0001g0132 others(4): Show a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0004t0001g0132 a0001c0004t0001g0133 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137	7	340	0.0206	29	c.693 others(48): Show c.693+14174_693+14175insTATATATATATATATATATATATATA TAT	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF130_chr5_179950067_180076759	180071789	G G	GGAGCGCG others(22): Show GGAGCGCGCGCGCGCGGCCTGCGCGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01169.hp2 others(22): Show HG00438.hp2 HG00673.hp1 HG01169.hp2 HG01358.hp2 HG02056.hp2 HG02135.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 NA18947.hp1 NA18953.hp2 NA18959.hp1 NA18963.hp1 NA18979.hp2 NA18987.hp2 NA18995.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0301 a0001c0001t0001g0302 others(22): Show a0001c0001t0001g0199 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0337	25	340	0.0735	29	c.-11 others(37): Show c.-116_-88dupGGCCCCGCGCAGGCCGCGCGCGCGCGCTC	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding		31		chr5	TogoVar
RNF13_chr3_149808215_149967139	149860270	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG02965.hp1 others(1): Show HG01243.hp2 HG02630.hp1 HG02965.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0020 a0001c0002t0004g0013 a0001c0002t0004g0019 others(1): Show a0001c0002t0002g0020 a0001c0002t0004g0013 a0001c0002t0004g0019 a0001c0002t0004g0023	4	280	0.0143	29	c.195 others(46): Show c.195+7675_195+7676insAAAAAAAAAAAAAAATATATATATATAT A	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF13_chr3_149808215_149967139	149860270	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03540.hp1 HG00735.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0014 a0001c0002t0004g0018 a0001c0002t0004g0014 a0001c0002t0004g0018	2	280	0.0071	29	c.195 others(46): Show c.195+7675_195+7676insAAAAAAAAAAAAATATATATATATATAT A	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF13_chr3_149808215_149967139	149865343	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0021 a0001c0002t0004g0021	1	280	0.0036	29	c.196 others(46): Show c.196-6678_196-6677insATATATATATATATATATATAATATATA T	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF150_chr4_140854807_141138469	140911558	A A	ATTTTAGA others(22): Show ATTTTAGATTGAAAAGATTCCTTTTTAATC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	184	0.0054	29	c.988 others(44): Show c.988-233_988-205dupGATTAAAAAGGAATCTTTTCAATCTAAAA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	5/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	141000029	G G	GAAGAAAA others(22): Show GAAGAAAAGAAGAAAAGAAGAAAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0134 a0001c0001t0009g0134	1	184	0.0054	29	c.485 others(48): Show c.485-32157_485-32156insTTCTTCTTTTCTTCTTTTCTTCTTTT CTT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01258.hp2 HG01261.hp1 others(2): Show HG01175.hp1 HG01258.hp2 HG01261.hp1 HG03492.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0043 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0214	5	350	0.0143	29	c.20 others(40): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF223_chr1_1065967_1079306	1077658	T T	TGCCGGGA others(22): Show TGCCGGGAGGCTGAGGCTATGGGGACTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	29	c.-36 others(40): Show c.-3653_-3652insCGGAGTCCCCATAGCCTCAGCCTCCCGGC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3353		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077840	C C	CGGGAGGC others(22): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	324	0.0031	29	c.-38 others(40): Show c.-3835_-3834insCCACGGAGTCCCCATAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3535		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078008	G G	GGGGACTC others(22): Show GGGGACTCCGTGGGGGGAGGCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	29	c.-40 others(40): Show c.-4003_-4002insATAGCCTCAGCCTCCCCCCACGGAGTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3703		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078229	G G	GGGGGGTG others(22): Show GGGGGGTGGCTGAGGCTATGGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	324	0.0031	29	c.-42 others(40): Show c.-4224_-4223insACGGAGTCCCCATAGCCTCAGCCACCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3924		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078349	G G	GGGGGGTG others(22): Show GGGGGGTGGCTGAGGCTATGGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	29	c.-43 others(40): Show c.-4344_-4343insACGGAGTCCCCATAGCCTCAGCCACCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4044		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078518	G G	GGGGACTC others(22): Show GGGGACTCCGTGGGGGGAGGCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	29	c.-45 others(40): Show c.-4513_-4512insATAGCCTCAGCCTCCCCCCACGGAGTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4213		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078529	G G	GGGGGGTG others(22): Show GGGGGGTGGCTGAGGCTATGGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	29	c.-45 others(40): Show c.-4524_-4523insACGGAGTCCCCATAGCCTCAGCCACCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4224		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078649	G G	GGGGGGAG others(22): Show GGGGGGAGGCTGAGGCTATGGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	29	c.-46 others(40): Show c.-4644_-4643insACGGAGTCCCCATAGCCTCAGCCTCCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4344		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078895	A A	AGGCTGAG others(22): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	29	c.-48 others(40): Show c.-4890_-4889insACCCCCACGGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4590		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078985	A A	AGGCTGAG others(22): Show AGGCTGAGGCTATGGGACTCCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	324	0.0031	29	c.-49 others(40): Show c.-4980_-4979insACCCCCCACGGAGTCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4680		chr1	TogoVar
RNF223_chr1_1065967_1079306	1079099	G G	GGGGGGAG others(22): Show GGGGGGAGGCTGAGGCTATGGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0031 a0001c0001t0008g0031	1	324	0.0031	29	c.-50 others(40): Show c.-5094_-5093insACGGAGTCCCCATAGCCTCAGCCTCCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4794		chr1	TogoVar
RNF223_chr1_1065967_1079306	1079191	G G	GGGGAGGC others(22): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	29	c.-51 others(40): Show c.-5186_-5185insGCACGGAGTCCCCATAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4886		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116832148	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp2 HG02280.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0105 a0001c0003t0005g0035 a0001c0001t0005g0105 a0001c0003t0005g0035	2	268	0.0075	29	c.883 others(46): Show c.883-1644_883-1643insTATATATATATATATATATATATATATA T	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
ROBO1_chr3_78592239_79772998	79487183	A A	AGTTAAAA others(22): Show AGTTAAAAAACTTGTTTTTTAACAAAACAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01243.hp1 others(40): Show HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0002c0004 a0003c0006 a0003c0009 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0005t0002 a0001c0005t0005 a0001c0007t0003 a0001c0008t0003 a0001c0008t0015 a0001c0011t0001 a0002c0004t0001 a0002c0004t0007 a0003c0006t0006 a0003c0009t0017 a0004c0010t0002	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(40): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0003g0036 a0001c0001t0005g0005 a0001c0001t0005g0035 a0001c0001t0008g0024 a0001c0001t0009g0006 a0001c0001t0010g0034 a0001c0001t0011g0025 a0001c0001t0012g0027 a0001c0001t0014g0041 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0003g0016 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0017 a0001c0002t0004g0021 a0001c0002t0016g0044 a0001c0003t0001g0023 a0001c0003t0002g0033 a0001c0003t0006g0018 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0005g0004 a0001c0007t0003g0003 a0001c0007t0003g0032 a0001c0008t0003g0037 a0001c0008t0015g0043 a0001c0011t0001g0038 a0002c0004t0001g0015 a0002c0004t0007g0009 a0002c0004t0007g0010 a0003c0006t0006g0011 a0003c0006t0006g0040 a0003c0009t0017g0042 a0004c0010t0002g0031	43	44	0.9773	29	c.88+ others(48): Show c.88+102640_88+102641insATGTTTTGTTAAAAAACAAGTTTTTT AAC	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77123940	G G	GTATCTAT others(22): Show GTATCTATATAGATAGATATGTAGATAATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	160	0.0063	29	c.388 others(48): Show c.388+25615_388+25643dupGATATGTAGATAATCTATCTATATAG ATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252831	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0045	1	160	0.0063	29	c.388 others(50): Show c.388+154492_388+154493insAAAAAAAAAAATATATATATATAT ATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77323058	T T	TTATATTA others(22): Show TTATATTATATTATGGATAATATAATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG01071.hp2 others(31): Show HG00597.hp1 HG00642.hp1 HG01071.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG02055.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18948.hp2 NA18957.hp1 NA18959.hp1 NA18968.hp1 NA19030.hp1 NA19060.hp1 NA19079.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0004 a0005c0013	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0040 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0015 a0001c0002t0017 a0001c0002t0023 a0001c0002t0024 a0001c0003t0007 a0001c0003t0019 a0001c0005t0012 a0001c0008t0001 a0002c0004t0001 a0002c0004t0002 a0005c0013t0005	a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0101 others(31): Show a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0101 a0001c0001t0003g0142 a0001c0001t0004g0070 a0001c0001t0004g0133 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0051 a0001c0001t0005g0145 a0001c0001t0005g0159 a0001c0001t0006g0015 a0001c0001t0009g0093 a0001c0001t0020g0009 a0001c0001t0028g0084 a0001c0001t0029g0042 a0001c0001t0040g0057 a0001c0002t0001g0039 a0001c0002t0001g0064 a0001c0002t0002g0002 a0001c0002t0011g0047 a0001c0002t0015g0012 a0001c0002t0015g0013 a0001c0002t0017g0085 a0001c0002t0023g0033 a0001c0002t0024g0001 a0001c0003t0007g0113 a0001c0003t0007g0117 a0001c0003t0019g0111 a0001c0005t0012g0114 a0001c0008t0001g0005 a0002c0004t0001g0136 a0002c0004t0002g0108 a0005c0013t0005g0106	34	160	0.2125	29	c.389 others(50): Show c.389-154328_389-154327insATATATTATATTATGGATAATATA ATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11238245	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0006 a0002c0002t0015g0006	1	320	0.0031	29	c.463 others(46): Show c.463-2284_463-2283insGACACACACACACACACACACACACACA C	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar

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Search Results (Total: 6085 hits)