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
RGL3_chr19_11389060_11424314	11414464	C C	CATATATA others(27): Show CATATATATACATATATATATACCTTCATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0130 a0001c0001t0001g0108 a0001c0001t0001g0130	2	402	0.0050	34	c.637 others(51): Show c.637+1472_637+1473insATATATATGAAGGTATATATATATGTAT ATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGN_chrX_47073443_47098313	47090961	A A	AAGGAAGG others(27): Show AAGGAAGGAAAGAAAAAGAAAGAAAGAAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0049 a0005c0010t0001g0049	1	304	0.0033	34	c.563 others(49): Show c.563-716_563-715insGGAAGGAAAGAAAAAGAAAGAAAGAAAGAA GAGA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGPD1_chr2_86937118_87018976	86942511	G G	GGGCGGCG others(27): Show GGGCGGCGGCGGCGGCCTCGACCTGGCCGGGCGGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02622.hp1 HG03704.hp2 others(5): Show HG01361.hp2 HG02622.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 NA18747.hp1 NA19091.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0005 a0003c0003t0003 a0001c0001t0003 a0001c0001t0005 a0003c0003t0003	a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0076 others(5): Show a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0005g0071 a0001c0001t0005g0072 a0003c0003t0003g0074	8	102	0.0784	34	c.72+ others(47): Show c.72+213_72+246dupGGCGGCCTCGACCTGGCCGGGCGGCGGCGGCG GC	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD2_chr2_87750960_87830796	87824825	G G	GGCCGCCG others(27): Show GGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	176	0.0057	34	c.72+ others(47): Show c.72+799_72+832dupGGCCTCGGCCTGGCCGGGCGGCGGCGGCGGCG GC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS18_chr1_192153462_192190815	192172864	C C	CATATATA others(27): Show CATATATATATATATATATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02273.hp2 NA18945.hp2 others(5): Show HG02027.hp1 HG02273.hp2 NA18945.hp2 NA18963.hp2 NA18973.hp1 NA18991.hp1 NA19011.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0071 others(1): Show a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0071 a0001c0001t0002g0086	8	336	0.0238	34	c.284 others(51): Show c.284-8409_284-8408insTATATATAAATATATATATATATATATA TATATA	RGS18	ENSG00000150681.10	transcript	ENST00000367460.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS22_chr8_99955936_100111049	100060402	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18977.hp1 NA18984.hp1 others(1): Show NA18970.hp1 NA18977.hp1 NA18984.hp1 NA18986.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 others(1): Show a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0004c0008t0001g0189	4	310	0.0129	34	c.151 others(53): Show c.1514+2188_1514+2189insTATATATATATATATATATATATATA TATATATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS22_chr8_99955936_100111049	100060421	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18994.hp2 HG02300.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0188 a0001c0001t0001g0192	2	310	0.0065	34	c.151 others(53): Show c.1514+2169_1514+2170insGTATATATATATATATATATATATAT ATATATAT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS7_chr1_240770514_241362205	240868152	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	112	0.0089	34	c.609 others(49): Show c.609+434_609+435insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	9/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241030361	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	112	0.0089	34	c.176 others(53): Show c.176-47233_176-47232insATATATATATATATATATATATATAT ATATATAT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241030373	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	112	0.0089	34	c.176 others(53): Show c.176-47245_176-47244insGTATATATATATATATATATATATAT ATATATAT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	112	0.0089	34	c.175 others(53): Show c.175+30427_175+30428insTATATATATATATATATATATATATA TATACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	112	0.0089	34	c.175 others(53): Show c.175+30427_175+30428insTATATATATATATATACACACACACA CACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp2 NA19000.hp2 others(1): Show HG00639.hp2 HG02257.hp2 NA19000.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0002g0037 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0002g0037 a0001c0001t0002g0088	4	112	0.0357	34	c.175 others(53): Show c.175+30427_175+30428insTATATATATATATACACACACACACA CACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241077836	C C	CCCCTACC others(27): Show CCCCTACCCTGAGAAGTCTCTTACCGGGGTGACTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	112	0.0089	34	c.175 others(53): Show c.175+20796_175+20829dupAAGTCACCCCGGTAAGAGACTTCTCA GGGTAGGG	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(27): Show CTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	112	0.0089	34	c.175 others(51): Show c.175+9602_175+9603insTATATATATATATATATATATATATATA GAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	112	0.0089	34	c.175 others(51): Show c.175+9602_175+9603insTATATATATATATATATATATAGAGAGA GAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	112	0.0089	34	c.175 others(51): Show c.175+9602_175+9603insTATATATATATATATATATAGAGAGAGA GAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	112	0.0089	34	c.175 others(51): Show c.175+9602_175+9603insTATATATATATATATAGAGAGAGAGAGA GAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241106770	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACCCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	112	0.0089	34	c.79- others(49): Show c.79-8009_79-8008insGGGGGGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241144926	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	112	0.0089	34	c.79- others(51): Show c.79-46198_79-46165dupACACACACACACACACACACACACACAC ACACAC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241207348	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	112	0.0089	34	c.79- others(53): Show c.79-108587_79-108586insATATATATATATATATATATATATAT ATATATAT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGSL1_chr1_182445146_182565597	182446977	A A	ATGATATA others(27): Show ATGATATATACATTTAATTTTTAAAATTAAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0313 a0002c0002t0001g0313	1	338	0.0030	34	c.-31 others(45): Show c.-3189_-3188insTGATATATACATTTAATTTTTAAAATTAAATATG	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding		3168		chr1	TogoVar
RGSL1_chr1_182445146_182565597	182447010	G G	GTGATATA others(27): Show GTGATATATACATTTAATCTTTAAAATTAAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0010	1	338	0.0030	34	c.-31 others(45): Show c.-3156_-3155insTGATATATACATTTAATCTTTAAAATTAAATATA	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding		3135		chr1	TogoVar
RGSL1_chr1_182445146_182565597	182510697	A A	AGGGGGAG others(27): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	338	0.0030	34	c.182 others(55): Show c.1826-11306_1826-11305insGGGGAGGGGGAGGGGGAGGGGGAG GGGGAAGGGG	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHBDF1_chr16_53059_77631	72598	C C	CGCCCGCC others(27): Show CGCCCGCCCGCCGGTCCGGCCCGCCCGCCGGTCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00673.hp2 HG02027.hp1 NA19086.hp2 HG00673.hp2 HG02027.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	3	398	0.0075	34	c.-11 others(43): Show c.-111_-110insCGGACCGGCGGGCGGGCCGGACCGGCGGGCGGGC	RHBDF1	ENSG00000007384.15	transcript	ENST00000262316.10	protein_coding	1/18	7584		chr16	TogoVar
RHBDL2_chr1_38880807_38946830	38912910	A A	ATATATAT others(27): Show ATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	364	0.0028	34	c.396 others(51): Show c.396-1477_396-1476insCACACACACACACATATATATATATATA TATATA	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding	3/7			chr1	TogoVar
RHOA_chr3_49354145_49416976	49404433	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG03471.hp2 HG02055.hp2 HG02258.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146	3	264	0.0114	34	c.-3+ others(49): Show c.-3+7386_-3+7387insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04199.hp1 HG04115.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	368	0.0054	34	c.-48 others(45): Show c.-4898_-4897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RHOB_chr2_20442074_20454440	20443180	A A	AATATTTT others(27): Show AATATTTTTGTAAAGCGTATATGAAAAAGTTATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	368	0.0027	34	c.-42 others(45): Show c.-4286_-4285insATATTTTTGTAAAGCGTATATGAAAAAGTTATGT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		3893		chr2	TogoVar
RHOB_chr2_20442074_20454440	20445896	A A	ATATTGTA others(27): Show ATATTGTACATTCTATTGAACAATAGTGTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18964.hp1 NA18943.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0000 a0001c0001t0011g0000	2	368	0.0054	34	c.-15 others(45): Show c.-1570_-1569insTATTGTACATTCTATTGAACAATAGTGTATATTC	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		1177		chr2	TogoVar
RHOB_chr2_20442074_20454440	20445896	A A	ATATTGTA others(27): Show ATATTGTACATTCTATTGTACAATAGTGTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(18): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG01346.hp1 HG01928.hp1 HG01975.hp2 HG02080.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG03490.hp2 HG04199.hp1 NA18952.hp1 NA18971.hp2 NA18974.hp1 NA19060.hp2 NA19065.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0001c0001t0001 a0001c0001t0003 a0001c0001t0028	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0028g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0028g0000	21	368	0.0571	34	c.-15 others(45): Show c.-1570_-1569insTATTGTACATTCTATTGTACAATAGTGTATATTC	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		1177		chr2	TogoVar
RHOB_chr2_20442074_20454440	20445905	G G	GTTCTATT others(27): Show GTTCTATTGTACAATAGTGTATATTCTATTGTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(21): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01261.hp2 HG02055.hp1 HG02145.hp1 HG02723.hp2 HG02738.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0010g0000 others(2): Show a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0010g0000 a0001c0001t0016g0000 a0001c0001t0019g0000	24	368	0.0652	34	c.-15 others(45): Show c.-1561_-1560insTTCTATTGTACAATAGTGTATATTCTATTGTACA	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		1168		chr2	TogoVar
RHOB_chr2_20442074_20454440	20446087	A A	AAGTGTAT others(27): Show AAGTGTATATTCTATTGTACATTCTATTGTACAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00733.hp2 HG01081.hp2 others(12): Show HG00621.hp1 HG00733.hp2 HG01081.hp2 HG01109.hp1 HG01168.hp2 HG01361.hp1 HG01952.hp1 HG02523.hp1 HG02735.hp2 HG03130.hp1 HG03704.hp1 HG04184.hp2 NA18522.hp2 NA18955.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0025	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0010g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0010g0000 a0001c0001t0016g0000 a0001c0001t0025g0000	15	368	0.0408	34	c.-13 others(45): Show c.-1379_-1378insAGTGTATATTCTATTGTACATTCTATTGTACAAT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		986		chr2	TogoVar
RHOC_chr1_112696131_112712127	112706474	A A	ACACACAC others(27): Show ACACACACCACACACACACACACACACCCCCACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03486.hp1 HG01516.hp2 HG01517.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0164 a0001c0001t0001g0055 a0001c0001t0001g0164	3	428	0.0070	34	c.-77 others(49): Show c.-77+603_-77+604insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTG TGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOT1_chr17_32137502_32230727	32149635	A A	ATATATAT others(27): Show ATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	284	0.0035	34	c.37+ others(49): Show c.37+6907_37+6908insATATATATATGTGTGTGTGTGTGTGTGTGT GTGT	RHOT1	ENSG00000126858.19	transcript	ENST00000545287.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
RHOU_chr1_228730479_228751664	228743069	A A	AGCTGGCC others(27): Show AGCTGGCCCTGAAAGCAGACGGCTGCCACACCTTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	380	0.0026	34	c.322 others(49): Show c.322-198_322-197insCGGCTGCCACACCTTCGCTGGCCCTGAAAG CAGA	RHOU	ENSG00000116574.6	transcript	ENST00000366691.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIC1_chr9_5624107_5781557	5673535	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 HG02129.hp1 others(4): Show HG00609.hp1 HG01109.hp1 HG02129.hp1 HG02257.hp2 HG03130.hp2 HG03579.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0001 a0001c0001t0001 a0001c0019t0001	a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0113 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0173 a0001c0019t0001g0163	7	328	0.0213	34	c.253 others(53): Show c.253-16401_253-16400insTATATATATATATATATATATATATA TATATATA	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RIC3_chr11_8101056_8174025	8122455	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0020 a0001c0001t0027g0020	1	370	0.0027	34	c.670 others(51): Show c.670+4203_670+4204insTATATATATATATATATATATATATATA TACACA	RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	5/5			chr11	TogoVar
RICTOR_chr5_38932920_39079399	38990691	A A	ATCATATC others(27): Show ATCATATCTGATATATATCATATATATGATATATC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0328 a0002c0002t0006g0328	1	338	0.0030	34	c.583 others(49): Show c.583+257_583+258insGATATATCATATATATGATATATATCAGAT ATGA	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	338	0.0030	34	c.-90 others(43): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TATACAGA others(27): Show TATACAGATACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0329 a0001c0005t0027g0329	1	338	0.0030	34	c.-90 others(43): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTATCTGTAT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RIF1_chr2_151404902_151487172	151426168	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0072 a0001c0004t0006g0072	1	380	0.0026	34	c.787 others(51): Show c.787-2592_787-2591insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding	8/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIGI_chr9_32450302_32531196	32504035	C C	CCACACAC others(27): Show CCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0010 a0006c0013t0010	a0006c0013t0010g0329 a0006c0013t0010g0329	1	344	0.0029	34	c.107 others(51): Show c.107-3097_107-3096insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIMBP3B_chr22_21378751_21394478	21383353	A A	AAGGGTCT others(27): Show AAGGGTCTATTTTTTGTTTTTTTGTATTTAGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0000 a0001c0002t0004g0000	1	118	0.0085	34	c.-50 others(43): Show c.-506_-505insAGGGTCTATTTTTTGTTTTTTTGTATTTAGAGTG	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		397		chr22	TogoVar
RIMKLA_chr1_42375792_42429232	42385844	C C	CTCTCTCT others(27): Show CTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0065 a0001c0001t0012g0065	1	356	0.0028	34	c.163 others(51): Show c.163+4750_163+4751insCTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLB_chr12_8692991_8782191	8704971	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0283 a0001c0002t0013g0283	1	294	0.0034	34	c.-57 others(51): Show c.-57+6703_-57+6704insCACACACACACACACACACACACACACA CACACA	RIMKLB	ENSG00000166532.16	transcript	ENST00000535829.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMOC1_chr5_41899344_41926636	41901253	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	34	c.-31 others(45): Show c.-3115_-3114insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding		3090		chr5	TogoVar
RIMS1_chr6_71881550_72408145	71890405	T T	TGTGTGTG others(27): Show TGTGTGTGTGCGTGCATGCATGCACGCACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01109.hp1 others(10): Show HG00099.hp1 HG00140.hp1 HG01109.hp1 HG02145.hp1 HG02486.hp1 HG02818.hp1 HG03130.hp1 HG03471.hp1 HG03490.hp1 HG03669.hp1 HG03688.hp2 HG03942.hp2 NA19085.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0001c0020 a0002c0004 a0005c0021	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0003t0014 a0001c0006t0002 a0001c0009t0002 a0001c0010t0006 a0001c0020t0009 a0002c0004t0015 a0005c0021t0006	a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(10): Show a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0003t0004g0007 a0001c0003t0014g0002 a0001c0006t0002g0070 a0001c0006t0002g0073 a0001c0009t0002g0071 a0001c0010t0006g0001 a0001c0020t0009g0140 a0002c0004t0015g0072 a0005c0021t0006g0006	13	140	0.0929	34	c.164 others(51): Show c.164+3224_164+3225insGTGCGTGCATGCATGCACGCACACACAC GTGTGT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS1_chr6_71881550_72408145	72093210	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03834.hp1 NA18522.hp1 others(1): Show HG00639.hp1 HG03834.hp1 NA18522.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0019 a0001c0001t0010g0009 a0001c0002t0001g0018 others(1): Show a0001c0001t0001g0019 a0001c0001t0010g0009 a0001c0002t0001g0018 a0001c0002t0005g0067	4	140	0.0286	34	c.246 others(51): Show c.246-3721_246-3720insTATATATATATATATATATATATATATA TATATA	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS1_chr6_71881550_72408145	72153047	T T	TATATACG others(27): Show TATATACGTATATATTCCCTATGTATATATATGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0098 a0001c0003t0007g0098	1	140	0.0071	34	c.472 others(53): Show c.472-26523_472-26522insCGTATATATTCCCTATGTATATATAT GGAATATA	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr6	TogoVar

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