JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
RIPOR3_chr20_50581108_50696542	50682612	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG02135.hp1 others(6): Show HG00544.hp1 HG00621.hp1 HG02135.hp1 NA18947.hp2 NA18962.hp1 NA18971.hp1 NA19010.hp1 NA19068.hp1 NA19079.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0023 a0002c0002 others(1): Show a0001c0001 a0001c0023 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0023t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0023t0001 a0002c0002t0001 a0002c0002t0002 a0004c0008t0001	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(6): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0023t0001g0144 a0002c0002t0001g0133 a0002c0002t0002g0147 a0002c0002t0002g0149 a0004c0008t0001g0128	9	280	0.0321	30	c.3+8 others(43): Show c.3+8513_3+8514insCACACACACACACACACACACACACACACA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIT2_chr18_42738227_43120685	42929034	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19005.hp1 HG01243.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0046 a0001c0002t0001g0065 a0001c0001t0001g0046 a0001c0002t0001g0065	2	240	0.0083	30	c.235 others(47): Show c.235-5272_235-5271insATATATATATATATATATATATATATAT AT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	3/4			chr18	TogoVar
RLF_chr1_40156387_40245921	40200913	C C	CAGTGGTT others(23): Show CAGTGGTTTATCCTTAGTATAAACCATTGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0322 a0003c0003t0001g0322	1	338	0.0030	30	c.608 others(47): Show c.608-1498_608-1497insGTGGTTTATCCTTAGTATAAACCATTGC TA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RLF_chr1_40156387_40245921	40224623	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	338	0.0030	30	c.947 others(47): Show c.947+1915_947+1944dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	404	0.0025	30	c.911 others(47): Show c.911-1428_911-1427insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01106.hp1 HG01884.hp1 others(11): Show HG01074.hp2 HG01106.hp1 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02300.hp1 HG02818.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp2 NA18971.hp1 NA18980.hp2 NA18984.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0002 a0005c0005t0001 a0002c0002t0002 a0005c0005t0001	a0002c0002t0002g0000 a0005c0005t0001g0000 a0002c0002t0002g0000 a0005c0005t0001g0000	14	448	0.0313	30	c.-27 others(39): Show c.-275_-274insATATATATATATATATATATATATATATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21062708	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02080.hp1 NA18952.hp1 others(1): Show HG00544.hp1 HG02080.hp1 NA18952.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	448	0.0089	30	c.43 others(41): Show c.4351_*4352insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		4254		chr14	TogoVar
RNASET2_chr6_166917113_166961550	166953879	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0121 a0001c0002t0121	a0001c0002t0121g0229 a0001c0002t0121g0229	1	346	0.0029	30	c.87- others(45): Show c.87-1332_87-1331insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RNF103_chr2_86598398_86628865	86624146	A A	AAATAGAG others(23): Show AAATAGAGCAGTTAATTATTTTATGTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	402	0.0025	30	c.-12 others(41): Show c.-1261_-1260insATTTTACATAAAATAATTAACTGCTCTATT	RNF103	ENSG00000239305.7	transcript	ENST00000237455.5	protein_coding		282		chr2	TogoVar
RNF128_chrX_106721701_106802016	106763927	T T	TTTTGGTT others(23): Show TTTTGGTTTGGTTTGGTTTGGTTTGGTTTGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	209	0.0048	30	c.485 others(47): Show c.485-8977_485-8948dupGGTTTGGTTTGGTTTGGTTTGGTTTGGT TT	RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18995.hp2 HG00140.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0303 a0001c0001t0001g0307	2	340	0.0059	30	c.693 others(49): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF138_chr18_32086874_32136561	32119129	T T	TTGAGGAG others(23): Show TTGAGGAGTCAGTTCTTTGTCTACTGATTTA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19062.hp1 NA19089.hp2 NA18984.hp2 NA19062.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0019g0106 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0019g0106	3	362	0.0083	30	c.393 others(47): Show c.393-4387_393-4358dupGAGGAGTCAGTTCTTTGTCTACTGATTT AT	RNF138	ENSG00000134758.14	transcript	ENST00000261593.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01256.hp2 HG01258.hp2 others(4): Show HG00558.hp2 HG01256.hp2 HG01258.hp2 HG02809.hp2 NA18974.hp2 NA19012.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0041 a0001c0001t0002g0267 a0001c0001t0002g0268 others(3): Show a0001c0001t0002g0041 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0012g0271	7	374	0.0187	30	c.-48 others(47): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT AT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF150_chr4_140854807_141138469	141096190	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG03453.hp1 others(1): Show HG01243.hp2 HG02615.hp1 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0001 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0032 a0001c0001t0009g0134 a0001c0001t0009g0135 others(1): Show a0001c0001t0001g0032 a0001c0001t0009g0134 a0001c0001t0009g0135 a0001c0001t0015g0030	4	184	0.0217	30	c.484 others(49): Show c.484+36134_484+36135insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF157_chr17_76137474_76245493	76182760	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01928.hp2 HG02148.hp1 others(2): Show HG00639.hp1 HG01928.hp2 HG02148.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0007	a0001c0001t0001g0143 a0001c0002t0001g0186 a0001c0002t0002g0071 others(2): Show a0001c0001t0001g0143 a0001c0002t0001g0186 a0001c0002t0002g0071 a0001c0002t0002g0189 a0001c0006t0007g0015	5	234	0.0214	30	c.208 others(47): Show c.208-8971_208-8970insATATATATATATATATATATATATATAT AT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF17_chr13_24759169_24884921	24797705	A A	AGTTTGTG others(23): Show AGTTTGTGTGTCTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18987.hp1 HG02896.hp1 NA18987.hp1	a0003 a0005 a0003 a0005	a0003c0006 a0005c0005 a0003c0006 a0005c0005	a0003c0006t0001 a0005c0005t0001 a0003c0006t0001 a0005c0005t0001	a0003c0006t0001g0185 a0005c0005t0001g0095 a0003c0006t0001g0185 a0005c0005t0001g0095	2	426	0.0047	30	c.139 others(49): Show c.1399+1412_1399+1413insTTGTGTGTCTGTGTGTGTGTGTGTGT GTGT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24823484	T T	TTGTACTC others(23): Show TTGTACTCAGCCAATGATTGTACTCAGCTAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp2 HG01517.hp2 HG00280.hp1 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0052 a0001c0002t0001g0067 a0001c0002t0001g0071	3	426	0.0070	30	c.209 others(49): Show c.2092-2125_2092-2124insCAATGATTGTACTCAGCTAATGTACT CAGC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	15/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24858575	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	426	0.0024	30	c.361 others(47): Show c.3611-408_3611-407insATATATATATATATATATATATATATAT AT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	25/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF180_chr5_64160843_64377869	64192903	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0005 a0001c0001t0003g0006	2	250	0.0080	30	c.1-7 others(43): Show c.1-7898_1-7869dupTATATATATATATATATATATATATATATA	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG03139.hp1 HG02683.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0156 a0001c0001t0001g0050 a0001c0001t0001g0156	2	350	0.0057	30	c.20 others(41): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF212B_chr14_23232936_23278477	23272187	G G	GCGGGCGG others(23): Show GCGGGCGGATTATGAGGTCAGGAGATCGAGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	368	0.0027	30	c.835 others(45): Show c.835-634_835-605dupGGGCGGATTATGAGGTCAGGAGATCGAGAC	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF213_chr17_80255852_80403794	80313836	A A	ATGGTGGA others(23): Show ATGGTGGAGGTACTGGAGGTGATGGTGGTGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0004 a0002c0035t0004	a0002c0035t0004g0094 a0002c0035t0004g0094	1	292	0.0034	30	c.281 others(47): Show c.2811+672_2811+701dupGTGGAGGTACTGGAGGTGATGGTGGTGG TG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80313923	G G	GTACTGGA others(23): Show GTACTGGAGGTGATGGTGGTGGTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03540.hp2 HG01168.hp1 HG03540.hp2	a0006 a0057 a0006 a0057	a0006c0044 a0057c0050 a0006c0044 a0057c0050	a0006c0044t0020 a0057c0050t0017 a0006c0044t0020 a0057c0050t0017	a0006c0044t0020g0197 a0057c0050t0017g0223 a0006c0044t0020g0197 a0057c0050t0017g0223	2	292	0.0069	30	c.281 others(47): Show c.2811+757_2811+758insACTGGAGGTGATGGTGGTGGTGGAGGTG AT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314049	G G	GTACTGGA others(23): Show GTACTGGAGGTGATGGTGGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0057 a0057	a0057c0050 a0057c0050	a0057c0050t0017 a0057c0050t0017	a0057c0050t0017g0223 a0057c0050t0017g0223	1	292	0.0034	30	c.281 others(47): Show c.2811+883_2811+884insACTGGAGGTGATGGTGGTGGTGAAGGTG AT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314334	G G	GTGGACGT others(23): Show GTGGACGTGATGGTGGAGGTAATGGAGGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01106.hp2 others(8): Show HG00642.hp2 HG00735.hp2 HG01106.hp2 HG01928.hp1 HG02055.hp2 HG03491.hp2 HG03492.hp1 NA18979.hp2 NA18990.hp1 NA19077.hp1 NA21309.hp2	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0013 a0082 a0100	a0001c0004 a0001c0006 a0005c0007 others(4): Show a0001c0004 a0001c0006 a0005c0007 a0006c0011 a0013c0012 a0082c0085 a0100c0046	a0001c0004t0072 a0001c0006t0009 a0005c0007t0003 others(7): Show a0001c0004t0072 a0001c0006t0009 a0005c0007t0003 a0005c0007t0009 a0006c0011t0005 a0006c0011t0010 a0006c0011t0019 a0013c0012t0053 a0082c0085t0006 a0100c0046t0013	a0001c0004t0072g0164 a0001c0006t0009g0181 a0005c0007t0003g0235 others(8): Show a0001c0004t0072g0164 a0001c0006t0009g0181 a0005c0007t0003g0235 a0005c0007t0009g0218 a0006c0011t0005g0210 a0006c0011t0005g0224 a0006c0011t0010g0189 a0006c0011t0019g0229 a0013c0012t0053g0228 a0082c0085t0006g0291 a0100c0046t0013g0198	11	292	0.0377	30	c.281 others(49): Show c.2811+1170_2811+1171insACGTGATGGTGGAGGTAATGGAGGTG ATGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314610	G G	GTGAAGGT others(23): Show GTGAAGGTGATGGTGGAGGTACTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01106.hp2 others(8): Show HG00642.hp2 HG00735.hp2 HG01106.hp2 HG02055.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 NA18942.hp2 NA18979.hp2 NA18990.hp1 NA19077.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0099 a0100	a0001c0004 a0001c0006 a0005c0007 others(4): Show a0001c0004 a0001c0006 a0005c0007 a0006c0011 a0006c0044 a0099c0043 a0100c0046	a0001c0004t0072 a0001c0006t0009 a0005c0007t0003 others(7): Show a0001c0004t0072 a0001c0006t0009 a0005c0007t0003 a0005c0007t0009 a0006c0011t0005 a0006c0011t0010 a0006c0011t0019 a0006c0044t0020 a0099c0043t0003 a0100c0046t0013	a0001c0004t0072g0164 a0001c0006t0009g0181 a0005c0007t0003g0235 others(8): Show a0001c0004t0072g0164 a0001c0006t0009g0181 a0005c0007t0003g0235 a0005c0007t0009g0218 a0006c0011t0005g0210 a0006c0011t0005g0224 a0006c0011t0010g0189 a0006c0011t0019g0229 a0006c0044t0020g0197 a0099c0043t0003g0045 a0100c0046t0013g0198	11	292	0.0377	30	c.281 others(49): Show c.2811+1445_2811+1446insAAGGTGATGGTGGAGGTACTGGAGGT GATG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314839	T T	TGGTGGTG others(23): Show TGGTGGTGGACGTGATGGTGGAGGTAATGGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18990.hp1 NA18979.hp2 NA18990.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0007 a0001c0004 a0005c0007	a0001c0004t0072 a0005c0007t0009 a0001c0004t0072 a0005c0007t0009	a0001c0004t0072g0164 a0005c0007t0009g0218 a0001c0004t0072g0164 a0005c0007t0009g0218	2	292	0.0069	30	c.281 others(49): Show c.2811+1680_2811+1681insACGTGATGGTGGAGGTAATGGAGGTG GTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314856	G G	GAGGTACT others(23): Show GAGGTACTGGAGGTGATGGTGGTGGACGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0070 a0070	a0070c0066 a0070c0066	a0070c0066t0040 a0070c0066t0040	a0070c0066t0040g0030 a0070c0066t0040g0030	1	292	0.0034	30	c.281 others(49): Show c.2811+1689_2811+1690insAGGTACTGGAGGTGATGGTGGTGGAC GTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314895	A A	ATGGTGGA others(23): Show ATGGTGGAGGTACTGGAGGTGATGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0053 a0013c0012t0053	a0013c0012t0053g0228 a0013c0012t0053g0228	1	292	0.0034	30	c.281 others(49): Show c.2811+1731_2811+1760dupGTGGAGGTACTGGAGGTGATGGTGGT GGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314907	C C	CTGGAGGT others(23): Show CTGGAGGTGATGGTGGTGGTGTAGGTGATGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0042 a0042	a0042c0103 a0042c0103	a0042c0103t0035 a0042c0103t0035	a0042c0103t0035g0018 a0042c0103t0035g0018	1	292	0.0034	30	c.281 others(49): Show c.2811+1760_2811+1761insTAGGTGATGGTGGAGGTGATGGTGGT GGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315053	A A	ACTGGAGG others(23): Show ACTGGAGGTGATGGTGGTCGTGTAGGTGATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0070 a0070	a0070c0066 a0070c0066	a0070c0066t0040 a0070c0066t0040	a0070c0066t0040g0030 a0070c0066t0040g0030	1	292	0.0034	30	c.281 others(49): Show c.2811+1886_2811+1887insCTGGAGGTGATGGTGGTCGTGTAGGT GATG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80315396	G G	GTACTGGA others(23): Show GTACTGGAGGTGATGGTGGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0044 a0006c0044	a0006c0044t0020 a0006c0044t0020	a0006c0044t0020g0197 a0006c0044t0020g0197	1	292	0.0034	30	c.281 others(49): Show c.2812-1791_2812-1790insACTGGAGGTGATGGTGGTGGTGAAGG TGAT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01074.hp1 others(8): Show HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01261.hp1 HG01981.hp2 HG02293.hp1 HG02630.hp1 HG02818.hp2 HG03654.hp1 HG03688.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0018	a0001c0001t0001g0055 a0001c0001t0001g0193 a0001c0001t0001g0197 others(8): Show a0001c0001t0001g0055 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0002g0266 a0001c0001t0013g0246 a0001c0001t0018g0252	11	274	0.0402	30	c.-69 others(47): Show c.-69-7238_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF223_chr1_1065967_1079306	1068299	G G	GGGGGGTC others(23): Show GGGGGGTCCTCCAGGACCCCATGGACCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0010 a0002c0003t0003g0010	1	324	0.0031	30	c.35 others(41): Show c.3517_*3518insGAGGGGTCCATGGGGTCCTGGAGGACCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2667		chr1	TogoVar
RNF223_chr1_1065967_1079306	1073600	T T	TGCTCCAC others(23): Show TGCTCCACCTCCCGCCCCTCCCCTGCACCCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	324	0.0031	30	c.-10 others(45): Show c.-10+386_-10+415dupTGGGTGCAGGGGAGGGGCGGGAGGTGGAGC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding	1/1			chr1	TogoVar
RNF223_chr1_1065967_1079306	1073957	T T	TGGTGCCC others(23): Show TGGTGCCCCACCCTGAGCCTGTGCAGGTAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	324	0.0031	30	c.-10 others(43): Show c.-10+29_-10+58dupCTTACCTGCACAGGCTCAGGGTGGGGCACC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding	1/1			chr1	TogoVar
RNF223_chr1_1065967_1079306	1075016	A A	AAGACCAG others(23): Show AAGACCAGGGCTGGAGCTGGTTGAGAGTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	30	c.-10 others(41): Show c.-1011_-1010insCAGACTCTCAACCAGCTCCAGCCCTGGTCT	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		711		chr1	TogoVar
RNF223_chr1_1065967_1079306	1075522	G G	GGACTGCA others(23): Show GGACTGCAGAGGCCAGGGGGCAACACCCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	30	c.-15 others(41): Show c.-1517_-1516insTCGGGGTGTTGCCCCCTGGCCTCTGCAGTC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1217		chr1	TogoVar
RNF223_chr1_1065967_1079306	1075748	A A	ACAGGGAG others(23): Show ACAGGGAGGGGTGGATGCTCAGAGAGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0051 a0001c0001t0022g0051	1	324	0.0031	30	c.-17 others(41): Show c.-1743_-1742insCCCCGCTCTCTGAGCATCCACCCCTCCCTG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1443		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076105	G G	GGGGAGGC others(23): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	30	c.-21 others(41): Show c.-2100_-2099insGGCACGGAGTCCCCATAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1800		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076253	G G	GGGGAGGC others(23): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	30	c.-22 others(41): Show c.-2248_-2247insGGCACGGAGTCCCCATAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1948		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076667	G G	GTGCCGGG others(23): Show GTGCCGGGAGGCTGAGTCTATGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	30	c.-26 others(41): Show c.-2662_-2661insTGGAGTCCCCATAGACTCAGCCTCCCGGCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2362		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076787	G G	GTGCCGGG others(23): Show GTGCCGGGAGGCTGAGTCTATGGGGACTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA20129.hp1 HG01167.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0003c0004t0001g0002 a0001c0001t0001g0001 a0003c0004t0001g0002	2	324	0.0062	30	c.-27 others(41): Show c.-2782_-2781insTGGAGTCCCCATAGACTCAGCCTCCCGGCA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2482		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076885	A A	AGGCTGAG others(23): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	30	c.-28 others(41): Show c.-2880_-2879insACCCCCCACGGAGTCCCCATAGCCTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2580		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076911	G G	GGGGTGGC others(23): Show GGGGTGGCTGAGTCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	324	0.0031	30	c.-29 others(41): Show c.-2906_-2905insGGCACGGAGTCCCCATAGACTCAGCCACCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2606		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076945	A A	AGGCTGAG others(23): Show AGGCTGAGTCTATGGGGACTCCGTGAGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0010 a0012c0015t0010	a0012c0015t0010g0027 a0012c0015t0010g0027	1	324	0.0031	30	c.-29 others(41): Show c.-2940_-2939insACCCCTCACGGAGTCCCCATAGACTCAGCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2640		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077059	G G	GGGGGGAG others(23): Show GGGGGGAGGCTGAGGCTACGGGGACTCCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	324	0.0031	30	c.-30 others(41): Show c.-3054_-3053insGACGGAGTCCCCGTAGCCTCAGCCTCCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2754		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077061	G G	GGGGAGGC others(23): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	30	c.-30 others(41): Show c.-3056_-3055insGGCACGGAGTCCCCATAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2756		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077064	G G	GAGGCTGA others(23): Show GAGGCTGAGGCTACGGGGACTCCGTCGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02818.hp1 others(3): Show HG02723.hp2 HG02809.hp2 HG02818.hp1 HG03209.hp2 NA19030.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	6	324	0.0185	30	c.-30 others(41): Show c.-3059_-3058insTCCCCGACGGAGTCCCCGTAGCCTCAGCCT	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2759		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077073	G G	GCTACGGG others(23): Show GCTACGGGGACTCCGTCGGGGAAGGCTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	324	0.0031	30	c.-30 others(41): Show c.-3068_-3067insACTCAGCCTTCCCCGACGGAGTCCCCGTAG	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2768		chr1	TogoVar

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Search Results (Total: 10000 hits)