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
RETNLB_chr3_108750638_108762410	108759586	C C	CATACGTA others(29): Show CATACGTATGTATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18982.hp2 NA19010.hp2 NA18970.hp2 NA18982.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0003g0006	3	452	0.0066	36	c.-24 others(47): Show c.-2402_-2401insACACATACATACGTATGTATACACATACATACGT AT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2177		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(29): Show CATACGTATGTATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA18948.hp1 NA18949.hp2 others(1): Show HG02698.hp2 NA18948.hp1 NA18949.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0001g0001 a0001c0001t0003g0002 a0001c0001t0003g0006	4	452	0.0089	36	c.-24 others(47): Show c.-2426_-2425insACACATACATACGTATGTATACACATACATACGT AT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(29): Show CATACGTATGTATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18961.hp1 NA18972.hp1 others(1): Show HG02074.hp2 NA18961.hp1 NA18972.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	452	0.0089	36	c.-24 others(47): Show c.-2450_-2449insACACATACATACGTATGTATACACATACATACGT AT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2225		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759658	C C	CATACGTA others(29): Show CATACGTATGTATGTGTATACATACATATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	36	c.-24 others(47): Show c.-2474_-2473insACACATACATATGTATGTATACACATACATACGT AT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2249		chr3	TogoVar
RFC3_chr13_33813149_33842500	33834325	T T	TACATATA others(29): Show TACATATATATATATATACATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	416	0.0024	36	c.810 others(51): Show c.810-822_810-821insCATATATATATATATACATATATATATATA TACACA	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFLNA_chr12_124290093_124321024	124296072	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	388	0.0026	36	c.207 others(51): Show c.207+454_207+489dupTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG01884.hp1 others(3): Show HG00280.hp1 HG01106.hp1 HG01884.hp1 HG02922.hp2 HG03453.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0001c0001t0013 a0002c0005t0002 a0001c0001t0002 a0001c0001t0013 a0002c0005t0002	a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0035 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0021 a0001c0001t0002g0035 a0001c0001t0013g0023 a0002c0005t0002g0022	6	388	0.0155	36	c.207 others(51): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT CTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16345264	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0134	1	268	0.0037	36	c.114 others(57): Show c.1146+12632_1146+12667dupCACACACACACACACACACACACA CACACACACACA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404184	A A	AATATATA others(29): Show AATATATAATATATATTTCATATATAATATATATTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	268	0.0037	36	c.441 others(53): Show c.441+5190_441+5191insGAAATATATATTATATATGAAATATATA TTATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATACA others(29): Show TATATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG00423.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0207 a0001c0001t0001g0150 a0001c0001t0001g0207	2	268	0.0075	36	c.333 others(53): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(29): Show TATATATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02572.hp1 NA18966.hp1 others(2): Show HG00642.hp1 HG02572.hp1 NA18966.hp1 NA18994.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0004 a0001c0001t0001 a0001c0002t0002 a0002c0003t0004	a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0195 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0195 a0001c0002t0002g0205 a0002c0003t0004g0135	5	268	0.0187	36	c.333 others(53): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFWD3_chr16_74616399_74671877	74671654	T T	TGAGGGGG others(29): Show TGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0224 a0001c0002t0002g0224	1	412	0.0024	36	c.-48 others(47): Show c.-4872_-4871insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC TC	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding		4778		chr16	TogoVar
RFX3_chr9_3213297_3531001	3270081	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0080 a0001c0001t0018g0080	1	196	0.0051	36	c.135 others(53): Show c.1357+254_1357+289dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	11/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3366693	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18960.hp1 HG00438.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0152 a0001c0001t0002g0042 a0001c0001t0001g0152 a0001c0001t0002g0042	2	196	0.0102	36	c.118 others(55): Show c.118-19965_118-19930dupAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3415082	T T	TCTTATAT others(29): Show TCTTATATATATACTCATATATAAGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0183 a0001c0001t0056g0183	1	196	0.0051	36	c.-8- others(53): Show c.-8-19522_-8-19487dupTATATATATATACTTATATATGAGTATA TATATAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504979	A A	ATATCTTA others(29): Show ATATCTTATATAATATATAATATATAATATATCTTAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0088 a0001c0001t0014g0088	1	196	0.0051	36	c.-9+ others(53): Show c.-9+20767_-9+20768insATAAGATATATTATATATTATATATTAT ATAAGATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp2 NA18991.hp1 others(1): Show HG02280.hp1 HG02896.hp2 NA18991.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0007 a0001c0003t0004 a0001c0003t0015 others(1): Show a0001c0001t0007 a0001c0003t0004 a0001c0003t0015 a0001c0005t0006	a0001c0001t0007g0028 a0001c0003t0004g0295 a0001c0003t0015g0004 others(1): Show a0001c0001t0007g0028 a0001c0003t0004g0295 a0001c0003t0015g0004 a0001c0005t0006g0035	4	360	0.0111	36	c.401 others(53): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATAT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	ACTATATA others(29): Show ACTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03516.hp1 NA18946.hp1 others(5): Show HG00423.hp1 HG03516.hp1 NA18946.hp1 NA18982.hp1 NA18986.hp1 NA18999.hp1 NA19063.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0055 others(5): Show a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0094 a0001c0002t0002g0099 a0001c0002t0002g0128	8	360	0.0222	36	c.401 others(53): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATAG	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RGL3_chr19_11389060_11424314	11414490	C C	CATATATA others(29): Show CATATATATATATATATATATACACCTTCATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	402	0.0025	36	c.637 others(53): Show c.637+1446_637+1447insATATATATGAAGGTGTATATATATATAT ATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414490	C C	CATATATA others(29): Show CATATATATATATATATATATATACACCTTCATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	402	0.0025	36	c.637 others(53): Show c.637+1446_637+1447insATATATGAAGGTGTATATATATATATAT ATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGMA_chr15_93030271_93094211	93043244	G G	GCACACAG others(29): Show GCACACAGGCACGCACGCGCACACACAGGCACGCACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0163 a0001c0002t0163	a0001c0002t0163g0377 a0001c0002t0163g0377	1	414	0.0024	36	c.17 others(47): Show c.1753_*1754insTGTGCGTGCCTGTGTGTGCGCGTGCGTGCCTGTG TG	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	1753		chr15	TogoVar
RGPD3_chr2_106398406_106473413	106412293	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	382	0.0026	36	c.526 others(53): Show c.5266+755_5266+790dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	22/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3341547	G G	GAGGGTGG others(29): Show GAGGGTGGAGAGATGGGGGTATGGCGGGGAGGGGACA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0098 a0006c0015t0002g0098	1	312	0.0032	36	c.188 others(55): Show c.1882-1371_1882-1370insATGGCGGGGAGGGGACAAGGGTGGAG AGATGGGGGT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(29): Show GCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	418	0.0024	36	c.125 others(51): Show c.1254+37_1254+38insGGGGCGGGGCGGGGCGGGGCGGGGCGGGGC CGGGCC	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS18_chr1_192153462_192190815	192172864	C C	CATATATA others(29): Show CATATATATATATATATATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02148.hp2 HG01975.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	336	0.0060	36	c.284 others(53): Show c.284-8409_284-8408insTATATATAAATATATATATATATATATA TATATATA	RGS18	ENSG00000150681.10	transcript	ENST00000367460.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS22_chr8_99955936_100111049	100052152	T T	TATATATA others(29): Show TATATATAAATATATAAACATATATAAATATATAAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	310	0.0032	36	c.168 others(53): Show c.1689+614_1689+649dupGTTTATATATTTATATATGTTTATATAT TTATATAT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS22_chr8_99955936_100111049	100060402	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01168.hp1 HG01256.hp2 others(4): Show HG00544.hp1 HG01168.hp1 HG01256.hp2 HG01261.hp2 NA18978.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0174 a0001c0001t0001g0217 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0174 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0304	7	310	0.0226	36	c.151 others(55): Show c.1514+2188_1514+2189insTATATATATATATATATATATATATA TATATATATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS22_chr8_99955936_100111049	100060421	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG03927.hp1 NA18953.hp1 others(2): Show HG01258.hp1 HG03927.hp1 NA18953.hp1 NA18992.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0190 others(2): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0227	5	310	0.0161	36	c.151 others(55): Show c.1514+2169_1514+2170insGTATATATATATATATATATATATAT ATATATATAT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS3_chr9_113458727_113602738	113490646	T T	TATATAAT others(29): Show TATATAATATATTATTATAAATTATATAATATATAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp1 others(26): Show HG00140.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01978.hp2 HG02145.hp1 HG02280.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03540.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0011 a0002c0003 a0002c0004 others(3): Show a0001c0011 a0002c0003 a0002c0004 a0002c0005 a0002c0008 a0006c0012	a0001c0011t0001 a0002c0003t0002 a0002c0003t0005 others(7): Show a0001c0011t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0002 a0002c0004t0006 a0002c0005t0002 a0002c0005t0003 a0002c0005t0008 a0002c0008t0006 a0006c0012t0002	a0001c0011t0001g0071 a0002c0003t0002g0029 a0002c0003t0002g0030 others(26): Show a0001c0011t0001g0071 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0005g0019 a0002c0003t0005g0020 a0002c0003t0005g0021 a0002c0003t0005g0022 a0002c0004t0002g0073 a0002c0004t0002g0097 a0002c0004t0002g0098 a0002c0004t0006g0018 a0002c0004t0006g0023 a0002c0005t0002g0009 a0002c0005t0002g0012 a0002c0005t0002g0013 a0002c0005t0002g0014 a0002c0005t0003g0010 a0002c0005t0003g0011 a0002c0005t0008g0015 a0002c0008t0006g0033 a0002c0008t0006g0034 a0006c0012t0002g0016	29	168	0.1726	36	c.353 others(53): Show c.353+4968_353+5003dupTATAAATTATATAATATATAAAATATAA TATATTAT	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
RGS3_chr9_113458727_113602738	113569578	T T	TTTCCTTC others(29): Show TTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0011 a0002c0005t0003g0011	1	168	0.0060	36	c.170 others(57): Show c.1702-13865_1702-13864insTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
RGS6_chr14_71927429_72571530	72053079	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	130	0.0077	36	c.84+ others(53): Show c.84+88207_84+88208insCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	112	0.0089	36	c.175 others(55): Show c.175+30427_175+30428insTATATATATATATATATATATATATA TATATACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	112	0.0089	36	c.175 others(55): Show c.175+30427_175+30428insTATATATATATATATATATATACACA CACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	112	0.0089	36	c.175 others(55): Show c.175+30427_175+30428insTATATATATATATATATACACACACA CACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp1 HG01884.hp1 others(5): Show HG01071.hp1 HG01081.hp1 HG01884.hp1 HG02129.hp2 HG03130.hp1 HG03540.hp1 NA19068.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0084 others(5): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0002g0016 a0001c0001t0002g0096 a0001c0001t0004g0014 a0001c0001t0005g0021	8	112	0.0714	36	c.175 others(55): Show c.175+30427_175+30428insTATATATATATATATACACACACACA CACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	112	0.0089	36	c.175 others(55): Show c.175+30427_175+30428insTATATATATATACACACACACACACA CACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	112	0.0089	36	c.175 others(53): Show c.175+9602_175+9603insTATATATATATATATATATATAGAGAGA GAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	112	0.0089	36	c.175 others(53): Show c.175+9602_175+9603insTATATATATATATATATAGAGAGAGAGA GAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241144926	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	112	0.0089	36	c.79- others(53): Show c.79-46200_79-46165dupACACACACACACACACACACACACACAC ACACACAC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241235909	T T	TGAGAGAG others(29): Show TGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04204.hp2 HG03017.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	112	0.0179	36	c.78+ others(55): Show c.78+119789_78+119790insTCTCTCTCTCTCTCTCTCTCTCTCTC TTTCTCTCTC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327024	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGTGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04115.hp2 HG04204.hp2 HG03017.hp1 HG04115.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0092	3	112	0.0268	36	c.78+ others(53): Show c.78+28674_78+28675insCCCTCCCTCCCTCCCTCCCTCACTCCCT CCCTCCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327028	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGTGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	112	0.0089	36	c.78+ others(53): Show c.78+28670_78+28671insCCCTCCCTCCCTCCCTCCCTCACTCCCT CCCTCCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01261.hp2 others(8): Show HG01081.hp2 HG01243.hp2 HG01261.hp2 HG01884.hp2 HG02572.hp2 HG02615.hp1 HG03209.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0043 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0056 a0001c0001t0005g0023	11	112	0.0982	36	c.78+ others(53): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(29): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02451.hp2 HG02622.hp1 HG02129.hp1 HG02451.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0001g0048 a0001c0001t0003g0001 a0001c0001t0003g0005	3	112	0.0268	36	c.78+ others(53): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGGAGG others(29): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	112	0.0089	36	c.78+ others(53): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327045	A A	AGGGAGGG others(29): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	112	0.0089	36	c.78+ others(53): Show c.78+28653_78+28654insCCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDL2_chr1_38880807_38946830	38882334	A A	AAATATAT others(29): Show AAATATATATATATATATATATTTACATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01257.hp2 HG01433.hp1 HG00738.hp2 HG01257.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0159 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0159	3	364	0.0082	36	c.41 others(47): Show c.4169_*4170insAATATATATATGTAAATATATATATATATATATA TT	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding		3472		chr1	TogoVar
RHD_chr1_25267509_25335445	25291161	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0009 a0005c0005t0009	a0005c0005t0009g0174 a0005c0005t0009g0174	1	214	0.0047	36	c.486 others(51): Show c.486+373_486+374insTAGATAGATAGATAGATAGACAGACAGACA GACAGA	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHD_chr1_25267509_25335445	25291161	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp2 HG02572.hp1 HG03225.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0009 a0005c0005t0009	a0005c0005t0009g0175 a0005c0005t0009g0176 a0005c0005t0009g0175 a0005c0005t0009g0176	2	214	0.0094	36	c.486 others(51): Show c.486+373_486+374insTAGATAGATAGATAGATAGATAGACAGACA GACAGA	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHOA_chr3_49354145_49416976	49404431	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	264	0.0038	36	c.-3+ others(51): Show c.-3+7388_-3+7389insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar

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Search Results (Total: 8848 hits)