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
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	44	0.0227	34	c.88+ others(51): Show c.88+39628_88+39629insTTTTCTTTTCTTTCTTTCCTTTCTTTCT TTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771164	G G	GTATATAT others(27): Show GTATATATACACATATATACACATATATGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03486.hp2 HG03490.hp2 HG02451.hp2 HG03486.hp2 HG03490.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0010 a0001c0003t0002 a0004c0010t0002 a0001c0001t0010 a0001c0003t0002 a0004c0010t0002	a0001c0001t0010g0034 a0001c0003t0002g0033 a0004c0010t0002g0031 a0001c0001t0010g0034 a0001c0003t0002g0033 a0004c0010t0002g0031	3	44	0.0682	34	c.-34 others(45): Show c.-3464_-3463insTATATACATATATGTGTATATATGTGTATATATA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3167		chr3	TogoVar
ROBO2_chr3_77035099_77654964	77188968	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 HG02486.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0002 a0001c0001t0005 a0001c0003t0002	a0001c0001t0005g0051 a0001c0003t0002g0087 a0001c0001t0005g0051 a0001c0003t0002g0087	2	160	0.0125	34	c.388 others(53): Show c.388+90629_388+90630insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77188968	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	160	0.0063	34	c.388 others(53): Show c.388+90629_388+90630insTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAG	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77322835	G G	GTAATATA others(27): Show GTAATATATTATACATATGTATTATAATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0003 a0001c0002t0014g0003	1	160	0.0063	34	c.389 others(55): Show c.389-154567_389-154566insCATATGTATTATAATATATATATA ATATATTATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77323015	G G	GATAATAT others(27): Show GATAATATAATATATTATATTATATTATGGATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02895.hp1 others(4): Show HG02451.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03486.hp1 NA20300.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011 a0008c0009 a0009c0007	a0001c0001t0013 a0001c0001t0025 a0001c0002t0002 others(4): Show a0001c0001t0013 a0001c0001t0025 a0001c0002t0002 a0001c0003t0007 a0002c0011t0002 a0008c0009t0002 a0009c0007t0002	a0001c0001t0013g0098 a0001c0001t0025g0078 a0001c0002t0002g0079 others(4): Show a0001c0001t0013g0098 a0001c0001t0025g0078 a0001c0002t0002g0079 a0001c0003t0007g0115 a0002c0011t0002g0080 a0008c0009t0002g0083 a0009c0007t0002g0088	7	160	0.0438	34	c.389 others(55): Show c.389-154390_389-154357dupATATATTATATTATATTATGGATA ATATAATATA	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(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0013 a0001c0002t0015g0013	1	160	0.0063	34	c.389 others(53): Show c.389-43895_389-43894insATATATATATATATATATATATATAT ATATATAT	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(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp2 HG02451.hp2 HG01261.hp2 HG02055.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0240 a0001c0001t0004g0244 a0001c0001t0007g0219 a0001c0001t0004g0240 a0001c0001t0004g0244 a0001c0001t0007g0219	3	320	0.0094	34	c.463 others(51): Show c.463-2248_463-2247insACACACACACACACACACACACACACAC ACACAC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(27): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG02155.hp2 others(4): Show HG00140.hp2 HG01081.hp2 HG02155.hp2 HG03688.hp2 NA18990.hp1 NA19004.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 a0001c0001t0059	a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0168 others(4): Show a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0016g0156 a0001c0001t0021g0170 a0001c0001t0059g0194	7	320	0.0219	34	c.142 others(51): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCCCCC TCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGGG others(27): Show GGGGAGGGGGGGGGGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	320	0.0031	34	c.142 others(51): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCCCCCCCCC CCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0251 a0001c0001t0009g0252 a0001c0001t0009g0251 a0001c0001t0009g0252	2	320	0.0063	34	c.141 others(53): Show c.141+26383_141+26384insAAAAAAAATATATATATATATATATA TATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROGDI_chr16_4791968_4807633	4804933	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 NA19030.hp2 HG01257.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0003g0006 a0001c0001t0001g0020 a0001c0001t0003g0006	2	414	0.0048	34	c.-23 others(45): Show c.-2396_-2363dupCACACACACACACACACACACACACACACACACA	ROGDI	ENSG00000067836.13	transcript	ENST00000322048.12	protein_coding		2301		chr16	TogoVar
ROPN1L_chr5_10436879_10470026	10458847	C C	CCCATCCC others(27): Show CCCATCCCCCCGTGTACACCATCCCCCCGTGTACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	374	0.0027	34	c.418 others(51): Show c.418-2328_418-2295dupCCGTGTACACCATCCCCCCGTGTACACC ATCCCC	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROR1_chr1_63769017_64186498	64014740	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	96	0.0104	34	c.163 others(51): Show c.163+5365_163+5398dupTATATATATATATATATATATATATATA TATATA	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(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTAAGTACAGGC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	226	0.0044	34	c.98- others(51): Show c.98-63458_98-63457insGCCTGTACTTACACACACACACACACAC ACACAC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91845877	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	226	0.0044	34	c.98- others(51): Show c.98-70060_98-70059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91937029	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0152 a0001c0014t0006g0152	1	226	0.0044	34	c.97+ others(51): Show c.97+12837_97+12838insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60671067	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0094 a0001c0001t0053g0094	1	118	0.0085	34	c.196 others(51): Show c.196+7589_196+7590insATATATATATATATATATATATATATAT ATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053847	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0116 a0001c0001t0031g0116	1	118	0.0085	34	c.166 others(55): Show c.166+175205_166+175206insTATATATATATATATATATATATA TATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01884.hp1 others(4): Show HG01168.hp2 HG01169.hp1 HG01884.hp1 HG02004.hp1 HG02738.hp1 HG03654.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0033	a0001c0001t0001g0053 a0001c0001t0001g0109 a0001c0001t0002g0060 others(4): Show a0001c0001t0001g0053 a0001c0001t0001g0109 a0001c0001t0002g0060 a0001c0001t0006g0029 a0001c0001t0007g0057 a0001c0001t0013g0067 a0001c0001t0033g0041	7	118	0.0593	34	c.166 others(55): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02145.hp1 HG02647.hp1 others(3): Show HG01192.hp2 HG02145.hp1 HG02647.hp1 HG02738.hp2 HG02818.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0032 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0032 a0001c0011t0002 a0001c0011t0038	a0001c0001t0002g0093 a0001c0001t0002g0131 a0001c0001t0003g0092 others(3): Show a0001c0001t0002g0093 a0001c0001t0002g0131 a0001c0001t0003g0092 a0001c0001t0032g0091 a0001c0011t0002g0130 a0001c0011t0038g0094	6	192	0.0313	34	c.399 others(51): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	242266	T T	TTACCTTC others(27): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03831.hp1 NA20905.hp1 HG00323.hp1 HG03831.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0001 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0030 a0001c0001t0009g0066 a0001c0001t0014g0025 a0001c0001t0001g0030 a0001c0001t0009g0066 a0001c0001t0014g0025	3	133	0.0226	34	c.613 others(51): Show c.613+4844_613+4845insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242300	T T	TTACCTTC others(27): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02080.hp2 others(3): Show HG01243.hp1 HG01243.hp2 HG02080.hp2 HG02622.hp1 HG02886.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0022 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0022 a0001c0001t0031 a0001c0002t0029 a0001c0003t0001	a0001c0001t0002g0079 a0001c0001t0010g0131 a0001c0001t0022g0071 others(3): Show a0001c0001t0002g0079 a0001c0001t0010g0131 a0001c0001t0022g0071 a0001c0001t0031g0067 a0001c0002t0029g0103 a0001c0003t0001g0075	6	133	0.0451	34	c.613 others(51): Show c.613+4777_613+4810dupGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243036	A A	ATACCTTC others(27): Show ATACCTTCCTCTATTGACTACCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01167.hp2 others(18): Show HG00408.hp2 HG00544.hp2 HG01167.hp2 HG01255.hp1 HG01884.hp1 HG02055.hp2 HG02074.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02559.hp2 HG02976.hp1 NA18522.hp1 NA18959.hp1 NA18963.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp2 NA20905.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0032 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0026 a0001c0008t0001 a0001c0015t0007 a0006c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0080 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0080 a0001c0001t0001g0128 a0001c0001t0002g0029 a0001c0001t0005g0017 a0001c0001t0006g0105 a0001c0001t0009g0094 a0001c0001t0013g0055 a0001c0001t0014g0025 a0001c0001t0032g0004 a0001c0001t0034g0018 a0001c0002t0001g0123 a0001c0002t0003g0090 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0004t0001g0050 a0001c0004t0026g0013 a0001c0008t0001g0044 a0001c0015t0007g0026 a0006c0009t0001g0054	21	133	0.1579	34	c.613 others(51): Show c.613+4074_613+4075insATCAATAGAGGAAGGTAGTCAATAGAGG AAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243650	C C	CCCTTCCT others(27): Show CCCTTCCTCTATTGACTACCTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	133	0.0075	34	c.613 others(51): Show c.613+3427_613+3460dupTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01169.hp1 HG01243.hp2 others(10): Show HG00642.hp1 HG01169.hp1 HG01243.hp2 HG01943.hp2 HG02809.hp2 HG02976.hp1 NA18906.hp2 NA18978.hp2 NA18990.hp1 NA19030.hp1 NA19030.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0036 a0001c0001t0038 a0001c0001t0144 others(8): Show a0001c0001t0036 a0001c0001t0038 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0002t0036 a0001c0002t0143 a0001c0003t0037	a0001c0001t0036g0132 a0001c0001t0038g0016 a0001c0001t0038g0123 others(10): Show a0001c0001t0036g0132 a0001c0001t0038g0016 a0001c0001t0038g0123 a0001c0001t0144g0024 a0001c0001t0145g0027 a0001c0001t0146g0101 a0001c0001t0147g0133 a0001c0001t0148g0054 a0001c0001t0149g0130 a0001c0002t0036g0184 a0001c0002t0143g0022 a0001c0003t0037g0095 a0001c0003t0037g0096	13	266	0.0489	34	c.-28 others(43): Show c.-280_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0194 a0001c0001t0194	a0001c0001t0194g0094 a0001c0001t0194g0094	1	266	0.0038	34	c.-25 others(43): Show c.-256_-255insGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36422	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877403	T T	TACACACA others(27): Show TACACACACACACGTATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp2 HG02717.hp1 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0125 a0002c0004t0133 a0002c0004t0125 a0002c0004t0133	a0002c0004t0125g0081 a0002c0004t0133g0255 a0002c0004t0125g0081 a0002c0004t0133g0255	2	266	0.0075	34	c.117 others(51): Show c.1171+550_1171+583dupGTATACACACACACACACACACACACAC ACACAC	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396693	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	1	276	0.0036	34	c.-17 others(45): Show c.-1725_-1724insATATATATATATATATATATATATATATATATAT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1683		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	276	0.0036	34	c.-17 others(45): Show c.-1706_-1705insTATATATATATATATATATATATATATATTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	276	0.0036	34	c.-17 others(45): Show c.-1706_-1705insTATATATATATATATATATATATATTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	34	c.-17 others(45): Show c.-1706_-1705insTATATATATATATATATATATATTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp2 NA19077.hp1 HG03942.hp1 HG03942.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	3	422	0.0071	34	c.26 others(45): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	448	0.0022	34	c.44 others(45): Show c.4414_*4415insTATATATATATATATATATATACACACACACACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4334		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02027.hp2 NA18971.hp1 others(1): Show HG00597.hp1 HG02027.hp2 NA18971.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	448	0.0089	34	c.44 others(45): Show c.4408_*4409insTATATATATATATATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL7_chr8_73285242_73298633	73297571	C C	CCCCCACA others(27): Show CCCCCACAACCACCACCCCCGCCCAACACCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	448	0.0022	34	c.-39 others(45): Show c.-3960_-3959insTGGGGGGTGTTGGGCGGGGGTGGTGGTTGTGGGG	RPL7	ENSG00000147604.14	transcript	ENST00000352983.7	protein_coding		3939		chr8	TogoVar
RPRD1A_chr18_35984824_36072559	36008568	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0300 a0001c0002t0013g0300	1	318	0.0031	34	c.790 others(53): Show c.790-15269_790-15268insATATATATATATATATATATATATAT ATATATAT	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	318	0.0031	34	c.790 others(53): Show c.790-15272_790-15271insTATATATATATATATATATATATATA TATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01496.hp1 HG01070.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0229 a0001c0001t0001g0099 a0001c0001t0001g0229	2	318	0.0063	34	c.790 others(53): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02559.hp2 HG02976.hp2 others(1): Show HG02027.hp2 HG02559.hp2 HG02976.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0163 a0001c0001t0001g0187 a0001c0001t0005g0290 others(1): Show a0001c0001t0001g0163 a0001c0001t0001g0187 a0001c0001t0005g0290 a0001c0001t0005g0292	4	318	0.0126	34	c.790 others(53): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01361.hp2 HG01943.hp1 others(3): Show HG01257.hp1 HG01361.hp2 HG01943.hp1 HG02148.hp2 HG02970.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0145	6	318	0.0189	34	c.790 others(53): Show c.790-15278_790-15277insTATATATATATATATATATATATATA CACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	390	0.0026	34	c.-10 others(45): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		1010		chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	91062558	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0172 a0001c0001t0172	a0001c0001t0172g0107 a0001c0001t0172g0107	1	306	0.0033	34	c.-21 others(45): Show c.-2125_-2124insATATATATATATATATATATATATATATATATTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1918		chr14	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18990.hp1 NA19085.hp1 NA18939.hp2 NA18990.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0023 a0002c0002t0020 a0002c0002t0023	a0002c0002t0020g0018 a0002c0002t0020g0019 a0002c0002t0023g0031 a0002c0002t0020g0018 a0002c0002t0020g0019 a0002c0002t0023g0031	3	272	0.0110	34	c.501 others(51): Show c.501+4719_501+4720insATATATATATATATATATATATATATAT ATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21			chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18959.hp2 HG03209.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0044 a0001c0001t0001g0046	2	330	0.0061	34	c.472 others(49): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS7_chr2_3570260_3585920	3585726	C C	CGGGGGAG others(27): Show CGGGGGAGGGGGGAGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	34	c.48 others(45): Show c.4844_*4845insGGGGGAGGGGGGAGGGGGGGGGGGGGGGGGGGGG	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		4807		chr2	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(27): Show CCTTTCCTGTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0082 a0001c0006t0082	a0001c0006t0082g0015 a0001c0006t0082g0015	1	196	0.0051	34	c.348 others(53): Show c.348+21714_348+21715insTTTCCTGTCCTTTCCTTTCATGTCCT TTCCTTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0049 a0001c0023t0002g0049	1	196	0.0051	34	c.349 others(53): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19011.hp1 HG00741.hp2 NA19011.hp1	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0033 a0001c0017t0005 a0001c0004t0033 a0001c0017t0005	a0001c0004t0033g0023 a0001c0017t0005g0067 a0001c0004t0033g0023 a0001c0017t0005g0067	2	196	0.0102	34	c.349 others(53): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATTTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743991	A A	ACTAGCAC others(27): Show ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0007 a0001c0053t0007	a0001c0053t0007g0122 a0001c0053t0007g0122	1	196	0.0051	34	c.655 others(53): Show c.655-10019_655-10018insCTAGCACAGCCCTGGTTACTAGCACT GTCCTGGT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33			chr17	TogoVar

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Search Results (Total: 7994 hits)