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
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	36	c.-36 others(47): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAA GG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	36	c.-36 others(47): Show c.-3657_-3656insAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA GG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	448	0.0022	36	c.-27 others(45): Show c.-275_-274insATATATATATATATATATATATATATATATATATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNF10_chr12_120529356_120582588	120581109	T T	TGGGGGAA others(29): Show TGGGGGAAGAGGGGAACCCCGGGAGGATGGCGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	372	0.0027	36	c.44 others(47): Show c.4443_*4444insGGGGGAAGAGGGGAACCCCGGGAGGATGGCGGGA TG	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding		3522		chr12	TogoVar
RNF121_chr11_71924046_72002597	71942803	T T	TATATATA others(29): Show TATATATATAGATATATAGATATATATATGTACACAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0224 a0001c0002t0006g0224	1	254	0.0039	36	c.63+ others(53): Show c.63+13680_63+13681insTATATATAGATATATAGATATATATATG TACACAAA	RNF121	ENSG00000137522.18	transcript	ENST00000361756.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF128_chrX_106721701_106802016	106786221	G G	GATTTATA others(29): Show GATTTATAGATCAAAGAAACAGAAGAGAGAGTACAGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	209	0.0048	36	c.804 others(53): Show c.804+1087_804+1122dupTTTATAGATCAAAGAAACAGAAGAGAGA GTACAGAA	RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF128_chrX_106721701_106802016	106788616	T T	TATTATAT others(29): Show TATTATATATACTATATAATATAGTATATAATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG02647.hp1 others(1): Show HG00741.hp1 HG01192.hp1 HG02647.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0134 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0134 a0001c0001t0001g0174	4	209	0.0191	36	c.887 others(51): Show c.887+653_887+688dupATTATATATACTATATAATATAGTATATAA TATATA	RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03492.hp2 NA18947.hp1 others(3): Show HG01123.hp2 HG03492.hp2 NA18947.hp1 NA19043.hp2 NA19077.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0312 others(3): Show a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0003t0002g0153	6	340	0.0177	36	c.693 others(55): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATATATATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF141_chr11_10506673_10546187	10519664	A A	AGGCTACT others(29): Show AGGCTACTGTAGGCTACTGTAACACTGTAGCCTACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01099.hp2 others(18): Show HG00099.hp2 HG00642.hp1 HG01099.hp2 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG02273.hp2 HG02293.hp2 HG02602.hp1 HG02738.hp1 HG03688.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0017 a0001c0002t0005 a0001c0001t0005 a0001c0001t0017 a0001c0002t0005	a0001c0001t0005g0004 a0001c0001t0005g0018 a0001c0001t0005g0091 others(12): Show a0001c0001t0005g0004 a0001c0001t0005g0018 a0001c0001t0005g0091 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0296 a0001c0001t0017g0291 a0001c0002t0005g0127	21	374	0.0562	36	c.435 others(51): Show c.435-524_435-523insGTGTAGGCTACAGTGTTACAGTAGCCTACA GTAGCC	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	4/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539687	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03486.hp1 HG02109.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0051 a0001c0001t0006g0052	2	374	0.0054	36	c.-48 others(53): Show c.-48+1434_-48+1435insATATATATATATATATATATATATATAT ATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp2 others(17): Show HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01515.hp2 HG02165.hp1 HG02738.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp2 HG03704.hp1 NA18947.hp2 NA18960.hp1 NA18972.hp2 NA18999.hp1 NA19043.hp2 NA19064.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0248 a0001c0001t0002g0008 a0001c0001t0002g0251 others(9): Show a0001c0001t0001g0248 a0001c0001t0002g0008 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0003g0250 a0001c0001t0004g0007 a0001c0001t0004g0039 a0001c0001t0004g0249 a0001c0001t0016g0043	20	374	0.0535	36	c.-48 others(53): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF150_chr4_140854807_141138469	140899974	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0166 a0001c0001t0013g0166	1	184	0.0054	36	c.119 others(57): Show c.1198+11169_1198+11170insCACAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	6/6			chr4	TogoVar
RNF157_chr17_76137474_76245493	76182760	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	234	0.0043	36	c.208 others(53): Show c.208-8971_208-8970insATATATATATATATATATATATATATAT ATATATAT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF17_chr13_24759169_24884921	24881813	T T	TATCTATA others(29): Show TATCTATATAGATACATCTATATAGATATATAGATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0125 a0004c0004t0002g0125	1	426	0.0024	36	c.20 others(47): Show c.2087_*2088insATCTATATAGATACATCTATATAGATATATAGAT AC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1893		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881984	A A	ATAGATAG others(29): Show ATAGATAGATACATCTATATAGATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	426	0.0024	36	c.22 others(47): Show c.2258_*2259insTAGATAGATACATCTATATAGATATATAGATACA TC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2064		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882117	T T	TACATCTA others(29): Show TACATCTATATAGATATATAGATACATCTATATAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 NA18950.hp2 NA18965.hp1 others(1): Show HG02015.hp2 NA18950.hp2 NA18965.hp1 NA19003.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0147 a0001c0008t0001g0148 a0001c0008t0001g0153 others(1): Show a0001c0008t0001g0147 a0001c0008t0001g0148 a0001c0008t0001g0153 a0001c0008t0001g0165	4	426	0.0094	36	c.23 others(47): Show c.2391_*2392insACATCTATATAGATATATAGATACATCTATATAG AC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2197		chr13	TogoVar
RNF212_chr4_1066478_1118564	1087123	G G	GGGGGAGA others(29): Show GGGGGAGAGAGGACGGGTGGGGAGAGAGGACAGGGTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	406	0.0025	36	c.304 others(53): Show c.304-1170_304-1169insAACCCTGTCCTCTCTCCCCACCCGTCCT CTCTCCCC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	4/9			chr4	TogoVar
RNF213_chr17_80255852_80403794	80355524	G G	GGGGAAGA others(29): Show GGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0039 a0039	a0039c0147 a0039c0147	a0039c0147t0045 a0039c0147t0045	a0039c0147t0045g0175 a0039c0147t0045g0175	1	292	0.0034	36	c.108 others(55): Show c.10862+951_10862+952insAAGAAGCGGGGTGAACGGGAATGGGG GCTTACAGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355526	G G	GGAAGAAG others(29): Show GGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0020 a0020	a0020c0031 a0020c0031	a0020c0031t0012 a0020c0031t0012	a0020c0031t0012g0019 a0020c0031t0012g0019	1	292	0.0034	36	c.108 others(55): Show c.10862+951_10862+952insAAGAAGCGGGGTGAACGGGAATGGGG GCTTATGGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355675	G G	GGAAGAAG others(29): Show GGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0120 a0002c0002t0014g0120	1	292	0.0034	36	c.108 others(57): Show c.10862+1100_10862+1101insAAGAAGCGGGGTGAATGGGAATGG GGGCTTACGGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355675	G G	GGAAGAAG others(29): Show GGAAGAAGTGGGGTGAACAGGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03486.hp2 NA18906.hp2 HG02897.hp2 HG03486.hp2 NA18906.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0024 a0017c0019t0024	a0017c0019t0024g0017 a0017c0019t0024g0034 a0017c0019t0024g0278 a0017c0019t0024g0017 a0017c0019t0024g0034 a0017c0019t0024g0278	3	292	0.0103	36	c.108 others(57): Show c.10862+1100_10862+1101insAAGAAGTGGGGTGAACAGGATTGG GGGCTTATGGAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19043.hp2 HG01981.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0264 a0001c0001t0012g0195 a0001c0001t0002g0264 a0001c0001t0012g0195	2	274	0.0073	36	c.-69 others(53): Show c.-69-7244_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF220_chr1_44400255_44656723	44577337	C C	CTCTCCCC others(29): Show CTCTCCCCACTGCCACCTCTCCTCCCAGCTTCTCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	218	0.0046	36	c.626 others(55): Show c.626-36797_626-36762dupCTCCCTTCTCCCCACTGCCACCTCTC CTCCCAGCTT	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF24_chr20_3922311_4020558	4008452	A A	ATTATATA others(29): Show ATTATATATAATATATAATATGTATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0047 a0001c0001t0046 a0001c0001t0047	a0001c0001t0046g0074 a0001c0001t0047g0075 a0001c0001t0046g0074 a0001c0001t0047g0075	2	362	0.0055	36	c.-8+ others(51): Show c.-8+6984_-8+6985insAATATATATATTATACATATTATATATTAT ATATAA	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp2 HG02280.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0278 a0001c0001t0016g0282 a0001c0001t0004g0278 a0001c0001t0016g0282	2	350	0.0057	36	c.-2- others(51): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF39_chr6_30065270_30080769	30074756	C C	CCCCCATC others(29): Show CCCCCATCCTACAGGACCCCTCCTCACCCTCAGCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	451	0.0022	36	c.363 others(51): Show c.363+466_363+467insAGAGCTGAGGGTGAGGAGGGGTCCTGTAGG ATGGGG	RNF39	ENSG00000204618.10	transcript	ENST00000244360.8	protein_coding	1/3			chr6	TogoVar
RNF4_chr4_2464106_2520857	2466647	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03688.hp2 HG03942.hp1 HG02738.hp2 HG03688.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0190 a0001c0001t0005g0016 a0001c0001t0005g0018 a0001c0001t0002g0190 a0001c0001t0005g0016 a0001c0001t0005g0018	3	378	0.0079	36	c.-27 others(47): Show c.-2769_-2768insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2458		chr4	TogoVar
ROBO1_chr3_78592239_79772998	78711440	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	44	0.0227	36	c.104 others(55): Show c.1045+2956_1045+2957insGGAAGGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	8/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0011 a0003c0006t0006g0011	1	44	0.0227	36	c.88+ others(53): Show c.88+39628_88+39629insTTTCTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77126697	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0084 a0001c0001t0028g0084	1	160	0.0063	36	c.388 others(55): Show c.388+28373_388+28374insATATATATATATATATATATATATAT ATATATATAT	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(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0033 a0006c0012t0033	a0006c0012t0033g0018 a0006c0012t0033g0018	1	160	0.0063	36	c.388 others(57): Show c.388+154492_388+154493insAAAAAAAAAAAAAAAATATATATA TATATATATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77433486	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	160	0.0063	36	c.389 others(55): Show c.389-43895_389-43894insATATATATATATATATATATATATAT ATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11238209	A A	AGTGTGTG others(29): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03516.hp2 HG03579.hp2 others(1): Show HG02486.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0055 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0055 a0001c0001t0063	a0001c0001t0001g0202 a0001c0001t0007g0239 a0001c0001t0055g0259 others(1): Show a0001c0001t0001g0202 a0001c0001t0007g0239 a0001c0001t0055g0259 a0001c0001t0063g0247	4	320	0.0125	36	c.463 others(53): Show c.463-2248_463-2247insACACACACACACACACACACACACACAC ACACACAC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0118 a0001c0001t0012g0118	1	320	0.0031	36	c.142 others(53): Show c.142-8255_142-8254insTCTCTCCCCTCTCTCTCTCTCTCTCTCT CTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(29): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02056.hp1 NA18971.hp1 HG01109.hp2 HG02056.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0125 a0001c0001t0001g0178 a0001c0001t0007g0220 a0001c0001t0001g0125 a0001c0001t0001g0178 a0001c0001t0007g0220	3	320	0.0094	36	c.142 others(53): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCTCCC CCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(29): Show GGGGAGAGGGGGGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp1 HG01074.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0148 a0001c0001t0004g0215 a0001c0001t0001g0148 a0001c0001t0004g0215	2	320	0.0063	36	c.142 others(53): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCCCCC CCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROPN1L_chr5_10436879_10470026	10458692	C C	CCATCCCC others(29): Show CCATCCCCCTCATGTACACCGTCCCCACCATGTACAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0228 a0001c0005t0001g0228	1	374	0.0027	36	c.418 others(53): Show c.418-2484_418-2483insTCATGTACACCGTCCCCACCATGTACAT CATCCCCC	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROR1_chr1_63769017_64186498	63787476	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG02257.hp2 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0007 a0001c0008t0005 a0001c0002t0007 a0001c0008t0005	a0001c0002t0007g0052 a0001c0008t0005g0051 a0001c0002t0007g0052 a0001c0008t0005g0051	2	96	0.0208	36	c.91+ others(53): Show c.91+12975_91+12976insTCCTTCCTTCCTTCCTTCCTGCCTTCCT GCCTTCCT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18999.hp1 HG01255.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0089 a0001c0005t0002g0095 a0001c0001t0001g0089 a0001c0005t0002g0095	2	96	0.0208	36	c.163 others(53): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA TATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91839275	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTAAGTACAGGC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18973.hp2 NA18947.hp2 NA18973.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0007 a0009c0016t0007	a0009c0016t0007g0116 a0009c0016t0007g0121 a0009c0016t0007g0116 a0009c0016t0007g0121	2	226	0.0089	36	c.98- others(53): Show c.98-63458_98-63457insGCCTGTACTTACACACACACACACACAC ACACACAC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60515993	A A	ATATATAT others(29): Show ATATATATTTATATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0106 a0001c0002t0055g0106	1	118	0.0085	36	c.283 others(53): Show c.283-1237_283-1236insAATATATATAAATATATATAAATATATA AATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60597591	T T	TATATATA others(29): Show TATATATATATATACACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0029	1	118	0.0085	36	c.197 others(55): Show c.197-65741_197-65740insGTATATATATATATATATATGTGTAT ATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0076 a0001c0001t0030g0076	1	118	0.0085	36	c.166 others(57): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	303623	G G	GAGGCTGT others(29): Show GAGGCTGTACTGAGGTTTTATTAGGGGGCAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0018 a0007c0014t0018	a0007c0014t0018g0102 a0007c0014t0018g0102	1	133	0.0075	36	c.351 others(55): Show c.351+15796_351+15797insTCCTCCCTGCCCCCTAATAAAACCTC AGTACAGCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340446	A A	ACCCAGGC others(29): Show ACCCAGGCCTCCCCACATCCACACTCACTGCCCTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	133	0.0075	36	c.-21 others(55): Show c.-212-6513_-212-6512insCCCAGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340556	C C	CCAGGCCT others(29): Show CCAGGCCTCCCCACATCCACACTCACTGCCCCGGGCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	36	c.-21 others(55): Show c.-212-6623_-212-6622insAGCCCGGGGCAGTGAGTGTGGATGTG GGGAGGCCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340734	A A	ACCCAGGC others(29): Show ACCCAGGCCTCCCCACGTCCACACTCACTGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	133	0.0075	36	c.-21 others(55): Show c.-212-6801_-212-6800insAGGGGGGCAGTGAGTGTGGACGTGGG GAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340985	A A	ACCCAGGC others(29): Show ACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01358.hp2 HG01361.hp2 HG01192.hp1 HG01358.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0061 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0002g0061 a0001c0001t0013g0107 a0001c0001t0013g0108	3	133	0.0226	36	c.-21 others(55): Show c.-212-7052_-212-7051insAGGGGGGCAGTGAGTGTGGATGTGGG GAGGCCTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	341001	A A	ATCCACAC others(29): Show ATCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	36	c.-21 others(55): Show c.-212-7068_-212-7067insCGTGGGGAGGCCTGGGAGGGGGGCAG TGAGTGTGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	341049	G G	GCCCCCTC others(29): Show GCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02723.hp1 others(2): Show HG02559.hp1 HG02572.hp2 HG02723.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0027 a0001c0002t0006	a0001c0001t0001g0119 a0001c0001t0005g0132 a0001c0001t0006g0095 others(2): Show a0001c0001t0001g0119 a0001c0001t0005g0132 a0001c0001t0006g0095 a0001c0001t0027g0118 a0001c0002t0006g0060	5	133	0.0376	36	c.-21 others(55): Show c.-212-7116_-212-7115insGCAGTGAGTGTGGATGTGGGGAGGCC TGGGAGGGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar

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Search Results (Total: 8848 hits)