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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RIGI_chr9_32450302_32531196	32504718	T T	TATAAAAT others(38): Show TATAAAATATATTTAATACATAAAATATATAAAATATATTTAATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0217 a0001c0002t0026g0217	1	344	0.0029	45	c.107 others(62): Show c.107-3780_107-3779insGTATTAAATATATTTTATATATTTTATG TATTAAATATATTTTAT		RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17						chr9	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAATATAT others(38): Show AAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0062 a0005c0006t0001g0062	1	334	0.0030	45	c.249 others(62): Show c.249+5090_249+5091insATATATATATATATATATATATATATAT ATATATATATATATATA		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA20752.hp1 NA18999.hp1 NA20752.hp1	a0005 a0005	a0005c0006 a0005c0057 a0005c0006 a0005c0057	a0005c0006t0001 a0005c0057t0001 a0005c0006t0001 a0005c0057t0001	a0005c0006t0001g0064 a0005c0057t0001g0038 a0005c0006t0001g0064 a0005c0057t0001g0038	2	334	0.0060	45	c.249 others(62): Show c.249+5089_249+5090insTATATATATATATATATATATATATATA TATATATATATATATAT		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9						chr14	TogoVar
RIPOR3_chr20_50581108_50696542	50610046	T T	TCACCTGC others(38): Show TCACCTGCCACCCCTGCCTCCCCTGCCTCCCCTGCCTCACCTGCCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	280	0.0036	45	c.427 others(60): Show c.427-325_427-324insTGGCAGGTGAGGCAGGGGAGGCAGGGGAGG CAGGGGTGGCAGGTG		RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	6/21						chr20	TogoVar
RLF_chr1_40156387_40245921	40200919	C C	CACACACA others(38): Show CACACACACACAGTGGTTTATCCTTAGTATAAACCATTGCTACTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp2 HG06807.hp2 HG02055.hp1 HG02970.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0323 a0003c0003t0001g0328 a0003c0003t0001g0332 a0003c0003t0001g0323 a0003c0003t0001g0328 a0003c0003t0001g0332	3	338	0.0089	45	c.608 others(62): Show c.608-1482_608-1481insGTGGTTTATCCTTAGTATAAACCATTGC TACTCTACACACACACA		RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(38): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	404	0.0025	45	c.911 others(62): Show c.911-1428_911-1427insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA		RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12						chr15	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(38): Show TATATATATATATATATATATATATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	374	0.0027	45	c.-48 others(62): Show c.-48+1422_-48+1423insTATATATATATATATATATGTATATATA TATATATATATATATAT		RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5						chr11	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01934.hp1 HG02071.hp2 others(1): Show HG01928.hp2 HG01934.hp1 HG02071.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0002t0001g0100 others(1): Show a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0002t0001g0100 a0001c0002t0001g0101	4	374	0.0107	45	c.-48 others(62): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TATATATATATATATAT		RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5						chr11	TogoVar
RNF213_chr17_80255852_80403794	80260519	G G	GGCGGCGG others(38): Show GGCGGCGGGCAGGGCGGGGCCAGCGGCGGCGGGCAGGGCGGGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0055 a0055	a0055c0048 a0055c0048	a0055c0048t0063 a0055c0048t0063	a0055c0048t0063g0245 a0055c0048t0063g0245	1	292	0.0034	45	c.-49 others(54): Show c.-492_-491insGCGGCGGGCAGGGCGGGGCCAGCGGCGGCGGGCAGG GCGGGGCCA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					332		chr17	TogoVar
RNF213_chr17_80255852_80403794	80260519	G G	GGCGGCGG others(38): Show GGCGGCGGGCAGGGCGGGGCCAGCGGCGGCGGGCAGGGCGGGGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0056 a0056	a0056c0049 a0056c0049	a0056c0049t0025 a0056c0049t0025	a0056c0049t0025g0243 a0056c0049t0025g0243	1	292	0.0034	45	c.-49 others(54): Show c.-492_-491insGCGGCGGGCAGGGCGGGGCCAGCGGCGGCGGGCAGG GCGGGGTCA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					332		chr17	TogoVar
RNF213_chr17_80255852_80403794	80314196	A A	ATGGTGGA others(38): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGATGGTGGAGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18975.hp2 NA18998.hp2 others(2): Show HG02074.hp2 NA18975.hp2 NA18998.hp2 NA19007.hp2 NA19060.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0073	a0002c0002 a0002c0058 a0003c0074 others(2): Show a0002c0002 a0002c0058 a0003c0074 a0004c0047 a0073c0069	a0002c0002t0010 a0002c0058t0004 a0003c0074t0011 others(2): Show a0002c0002t0010 a0002c0058t0004 a0003c0074t0011 a0004c0047t0065 a0073c0069t0019	a0002c0002t0010g0113 a0002c0058t0004g0219 a0003c0074t0011g0163 others(2): Show a0002c0002t0010g0113 a0002c0058t0004g0219 a0003c0074t0011g0163 a0004c0047t0065g0150 a0073c0069t0019g0151	5	292	0.0171	45	c.281 others(64): Show c.2811+1061_2811+1062insGTGATGGTGGAGGTGGTGGAGGTAAT GGAGGTGATGGTGGTGGTG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315110	A A	ACTGGAGG others(38): Show ACTGGAGGTGATGGTGGTCGTGGAGGTGATGGTGGTGGTGGTAATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0100 a0100	a0100c0046 a0100c0046	a0100c0046t0013 a0100c0046t0013	a0100c0046t0013g0198 a0100c0046t0013g0198	1	292	0.0034	45	c.281 others(64): Show c.2811+1943_2811+1944insCTGGAGGTGATGGTGGTCGTGGAGGT GATGGTGGTGGTGGTAATG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80315175	T T	TGGTGGAG others(38): Show TGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGA	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	45	c.281 others(64): Show c.2812-2008_2812-2007insAGGTACTGGAGGTGATGGTGGTGGTG GAGGTGATGGTGGAGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315322	T T	TACTGGAG others(38): Show TACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTAGAGGTAATGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01496.hp2 others(5): Show HG00741.hp1 HG01074.hp1 HG01496.hp2 HG01891.hp1 HG02273.hp2 HG02647.hp2 NA19070.hp1 NA19082.hp2	a0001 a0012 a0041 others(4): Show a0001 a0012 a0041 a0047 a0058 a0059 a0075	a0001c0001 a0012c0015 a0041c0102 others(4): Show a0001c0001 a0012c0015 a0041c0102 a0047c0095 a0058c0130 a0059c0064 a0075c0070	a0001c0001t0001 a0012c0015t0033 a0041c0102t0003 others(4): Show a0001c0001t0001 a0012c0015t0033 a0041c0102t0003 a0047c0095t0002 a0058c0130t0031 a0059c0064t0033 a0075c0070t0009	a0001c0001t0001g0141 a0001c0001t0001g0267 a0012c0015t0033g0188 others(5): Show a0001c0001t0001g0141 a0001c0001t0001g0267 a0012c0015t0033g0188 a0041c0102t0003g0020 a0047c0095t0002g0148 a0058c0130t0031g0012 a0059c0064t0033g0136 a0075c0070t0009g0123	8	292	0.0274	45	c.281 others(64): Show c.2812-1866_2812-1865insACTGGAGGTGATGGTGGTGGTGAAGG TGATGGTAGAGGTAATGGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80315499	T T	TGAAGGTG others(38): Show TGAAGGTGATGGTAGAGGTAATGGAAGTAATGGTGGAGGTACTAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00733.hp2 others(24): Show HG00140.hp1 HG00280.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp1 HG01496.hp1 HG01517.hp2 HG01934.hp2 HG01993.hp1 HG02735.hp1 HG03688.hp2 HG03831.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18954.hp2 NA18963.hp1 NA18964.hp2 NA18983.hp2 NA19077.hp2 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0016 others(7): Show a0001 a0002 a0016 a0022 a0027 a0034 a0049 a0057 a0060 a0080	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0016c0014 a0022c0090 a0027c0025 a0034c0140 a0049c0093 a0057c0050 a0060c0063 a0080c0073	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(19): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0023 a0001c0004t0068 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0032 a0002c0002t0051 a0016c0014t0017 a0016c0014t0041 a0022c0090t0008 a0027c0025t0013 a0027c0025t0074 a0034c0140t0013 a0049c0093t0001 a0057c0050t0017 a0060c0063t0017 a0080c0073t0069	a0001c0001t0002g0263 a0001c0003t0001g0036 a0001c0003t0001g0108 others(23): Show a0001c0001t0002g0263 a0001c0003t0001g0036 a0001c0003t0001g0108 a0001c0003t0002g0107 a0001c0003t0002g0109 a0001c0004t0023g0106 a0001c0004t0068g0125 a0002c0002t0003g0194 a0002c0002t0004g0117 a0002c0002t0005g0096 a0002c0002t0005g0214 a0002c0002t0009g0215 a0002c0002t0010g0154 a0002c0002t0032g0001 a0002c0002t0051g0256 a0016c0014t0017g0220 a0016c0014t0017g0221 a0016c0014t0041g0222 a0022c0090t0008g0092 a0027c0025t0013g0260 a0027c0025t0074g0262 a0034c0140t0013g0179 a0049c0093t0001g0101 a0057c0050t0017g0223 a0060c0063t0017g0234 a0080c0073t0069g0158	27	292	0.0925	45	c.281 others(64): Show c.2812-1688_2812-1687insAAGGTGATGGTAGAGGTAATGGAAGT AATGGTGGAGGTACTAGAG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1077630	G G	GGGGGAGC others(38): Show GGGGGAGCTGAGCTGGGGGAGGCTGAGGCTATGGGGGACTCCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	45	c.-36 others(56): Show c.-3625_-3624insGCACGGAGTCCCCCATAGCCTCAGCCTCCCCCAG CTCAGCTCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					3325		chr1	TogoVar
RNF2_chr1_185040558_185107603	185082364	T T	TTTTTTTT others(38): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	350	0.0029	45	c.-2- others(60): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGTTT		RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
ROCK1_chr18_20941906_21116813	20959064	T T	TTATATTA others(38): Show TTATATTATATAATATATATATTTTATATAATATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02897.hp1 HG02809.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0100 a0001c0001t0011g0101 a0001c0001t0011g0100 a0001c0001t0011g0101	2	212	0.0094	45	c.351 others(62): Show c.3512+731_3512+775dupTATATAATATATATATTATATAAAATAT ATATATTATATAATATA		ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32						chr18	TogoVar
ROCK2_chr2_11174759_11349636	11295989	A A	AGAGAGAG others(38): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	320	0.0031	45	c.142 others(62): Show c.142-8254_142-8253insCCTCTCTCTCTCTCTCCTCTCTCTCTCT CTCTCTCTCTCTCTCTC		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(38): Show GAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19077.hp2 NA18747.hp1 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0095 a0002c0002t0003g0096	2	320	0.0063	45	c.142 others(62): Show c.142-8255_142-8254insTCTCTCTCCCCTCTCTCTCTCTCTCCTC TCTCTCTCTCTCTCTCT		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(38): Show GAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0097 a0002c0002t0003g0097	1	320	0.0031	45	c.142 others(62): Show c.142-8255_142-8254insTCTCTCTCTCCCCTCTCTCTCTCTCTCC TCTCTCTCTCTCTCTCT		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
ROCK2_chr2_11174759_11349636	11330740	G G	GGGAGGAG others(38): Show GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0270 a0002c0002t0017g0270	1	320	0.0031	45	c.141 others(64): Show c.141+13255_141+13256insTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCC		ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32						chr2	TogoVar
RORA_chr15_60483284_61234302	60517463	T T	TTTTTATT others(38): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02055.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0075 a0001c0003t0015g0077 a0001c0003t0015g0075 a0001c0003t0015g0077	2	118	0.0170	45	c.283 others(62): Show c.283-2707_283-2706insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAA		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10						chr15	TogoVar
RP1L1_chr8_10601349_10660143	10610112	T T	TCTATTAC others(38): Show TCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02074.hp2 HG02074.hp2	a0112 a0112	a0112c0102 a0112c0102	a0112c0102t0002 a0112c0102t0002	a0112c0102t0002g0214 a0112c0102t0002g0214	1	414	0.0024	45	c.398 others(54): Show c.3985_3986insGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTA AAGTAATAG	p.Glu others(60): Show p.Glu1328_Glu1329insGlyLeuGlnGluGluGlyValGlnLeuGlu GlyThrLysValIle	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4250/8014	3985/7203	1329/2400			chr8	TogoVar
RPEL1_chr10_103240887_103253016	103251253	T T	TCCACCAC others(38): Show TCCACCACCATCACCATCTCCACCATCACCACCATCACCACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	375	0.0027	45	c.45 others(56): Show c.4570_*4571insCCACCACCATCACCATCTCCACCATCACCACCAT CACCACCTCCA		RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding					3238		chr10	TogoVar
RPH3AL_chr17_207389_357807	220432	G G	GTGAGACA others(38): Show GTGAGACAATAGACCAAAGCACAACAGCTCTGAGTCCTCCAGTCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18999.hp1 NA19005.hp1 others(1): Show HG00323.hp1 NA18999.hp1 NA19005.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0024 a0001c0001t0009 a0001c0001t0019 a0001c0001t0024	a0001c0001t0009g0066 a0001c0001t0019g0011 a0001c0001t0019g0012 others(1): Show a0001c0001t0009g0066 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0024g0083	4	133	0.0301	45	c.614 others(60): Show c.614-697_614-696insGTGACTGGAGGACTCAGAGCTGTTGTGCTT TGGTCTATTGTCTCA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	220901	C C	CACAACAG others(38): Show CACAACAGCTCTGAGGGCTCCACTCACTGAGACAACAGACCCAAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG01884.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0069 a0001c0001t0010g0131 a0001c0001t0002g0069 a0001c0001t0010g0131	2	133	0.0150	45	c.614 others(62): Show c.614-1166_614-1165insTCTTGGGTCTGTTGTCTCAGTGAGTGGA GCCCTCAGAGCTGTTGT		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	220950	T T	TCAGCTCT others(38): Show TCAGCTCTGAGGCCTCCACTCACTGAGACAATAGACCCAAGAACAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	133	0.0075	45	c.614 others(62): Show c.614-1215_614-1214insTTGTTCTTGGGTCTATTGTCTCAGTGAG TGGAGGCCTCAGAGCTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	221107	G G	GTGAGACA others(38): Show GTGAGACAATAGACCCAAGCACATCACCTCTGAGGGCTCCACTCAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	133	0.0075	45	c.614 others(62): Show c.614-1372_614-1371insGTGAGTGGAGCCCTCAGAGGTGATGTGC TTGGGTCTATTGTCTCA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	221445	T T	TCAGCTCT others(38): Show TCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG01884.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0069 a0001c0001t0010g0131 a0001c0001t0002g0069 a0001c0001t0010g0131	2	133	0.0150	45	c.614 others(62): Show c.614-1710_614-1709insTTGTGCTTGGGTCTATTGTCTCACCGAG TGGAGGCCTCAGAGCTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	221782	C C	CTGAGACA others(38): Show CTGAGACAATAGACCCAAGCACATCAGCTCTGAGGCCTCCACTCGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01884.hp2 HG02622.hp2 others(1): Show HG01515.hp2 HG01884.hp2 HG02622.hp2 HG02886.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0008c0013t0003	a0001c0001t0002g0069 a0001c0001t0010g0131 a0001c0001t0017g0099 others(1): Show a0001c0001t0002g0069 a0001c0001t0010g0131 a0001c0001t0017g0099 a0008c0013t0003g0037	4	133	0.0301	45	c.614 others(62): Show c.614-2047_614-2046insCCGAGTGGAGGCCTCAGAGCTGATGTGC TTGGGTCTATTGTCTCA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	221937	A A	GCAACAGC others(38): Show GCAACAGCTCTGAGGCCTCCACTCACTGAGACAATAGGCCCAAGAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18951.hp1 NA18963.hp2 others(1): Show NA18940.hp2 NA18951.hp1 NA18963.hp2 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0010 a0001c0001 a0001c0004 a0005c0010	a0001c0001t0021 a0001c0001t0033 a0001c0004t0004 others(1): Show a0001c0001t0021 a0001c0001t0033 a0001c0004t0004 a0005c0010t0003	a0001c0001t0021g0077 a0001c0001t0033g0063 a0001c0004t0004g0014 others(1): Show a0001c0001t0021g0077 a0001c0001t0033g0063 a0001c0004t0004g0014 a0005c0010t0003g0085	4	133	0.0301	45	c.614 others(62): Show c.614-2201_614-2200insTCTTGGGCCTATTGTCTCAGTGAGTGGA GGCCTCAGAGCTGTTGC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPL18_chr19_48610331_48624178	48616643	C C	CCAGCACA others(38): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	382	0.0026	45	c.297 others(58): Show c.297+82_297+83insTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTG CTGTGCTGTGCTG		RPL18	ENSG00000063177.13	transcript	ENST00000549920.6	protein_coding	4/6						chr19	TogoVar
RPS24_chr10_78028863_78045697	78030446	C C	CTATATAT others(38): Show CTATATATATATATATATATATATATATGAAATAATGTTGACTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	3	430	0.0070	45	c.-34 others(56): Show c.-3456_-3455insTATATATATATATATATATATATATATGAAATAA TGTTGACTATA		RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding					3416		chr10	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	330	0.0030	45	c.472 others(60): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(38): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	366	0.0027	45	c.-15 others(56): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCGCTCTCTC		RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding					1097		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(38): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0050 a0001c0001t0019g0050	1	196	0.0051	45	c.348 others(64): Show c.348+21649_348+21693dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTTCC others(38): Show CTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0062 a0001c0013t0013g0062	1	196	0.0051	45	c.348 others(64): Show c.348+21521_348+21522insTTTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0081 a0001c0081	a0001c0081t0002 a0001c0081t0002	a0001c0081t0002g0022 a0001c0081t0002g0022	1	196	0.0051	45	c.349 others(64): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATATATATATTTTTT		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(38): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0064 a0001c0002t0010g0064	1	196	0.0051	45	c.349 others(64): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATATATTTTTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN1_chr14_59590983_59875776	59750111	T T	TAGATATA others(38): Show TAGATATAATATATATTATCTATAATATATAATATATATATTATAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03195.hp2 NA19030.hp2 others(1): Show HG01358.hp1 HG03195.hp2 NA19030.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0109 a0002c0002t0001g0163 a0002c0002t0004g0029 others(1): Show a0002c0002t0001g0109 a0002c0002t0001g0163 a0002c0002t0004g0029 a0002c0002t0004g0129	4	172	0.0233	45	c.242 others(62): Show c.242-3631_242-3630insCTATAATATATATATTATATATTATAGA TAATATATATTATATCT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTN1_chr14_59590983_59875776	59750111	T T	TAGATATA others(38): Show TAGATATAATATATATTATCTATAATATATATATTATATATTATAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(1): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0004 a0001c0007 a0003c0004	a0001c0007t0005 a0003c0004t0001 a0001c0007t0005 a0003c0004t0001	a0001c0007t0005g0071 a0003c0004t0001g0040 a0003c0004t0001g0080 others(1): Show a0001c0007t0005g0071 a0003c0004t0001g0040 a0003c0004t0001g0080 a0003c0004t0001g0081	4	172	0.0233	45	c.242 others(62): Show c.242-3631_242-3630insCTATAATATATAATATATATATTATAGA TAATATATATTATATCT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
RTP5_chr2_241864729_241878823	241877958	C C	CCCTCTCC others(38): Show CCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	365	0.0027	45	c.46 others(56): Show c.4684_*4685insCCTCTCCTGGCCGCCCCCCAACCCCATCCCTCTC CTCGCTCCCCT		RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding					4136		chr2	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(38): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0026 a0001c0001t0038g0026	1	100	0.0100	45	c.49- others(62): Show c.49-32510_49-32509insTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCC		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AGAAAGAA others(38): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0117 a0003c0003t0001g0117	1	284	0.0035	45	c.37 others(56): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC		SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding					3660		chr11	TogoVar
SAP18_chr13_21135119_21154097	21142572	C C	CAGCCTCA others(38): Show CAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	426	0.0024	45	c.239 others(62): Show c.239+1577_239+1578insAGCCTCAGCCTCCCAAAGTGCTGGGATT ACAGGCATAAGCCACCG		SAP18	ENSG00000150459.13	transcript	ENST00000382533.9	protein_coding	2/3						chr13	TogoVar
SAPCD2_chr9_137057127_137075557	137074680	A A	AAAACAAA others(38): Show AAAACAAAAACAGCAACTCCCCGCCTTTGTGGGGTTCGCTTCTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	414	0.0024	45	c.-42 others(56): Show c.-4221_-4220insGTGAGAAGCGAACCCCACAAAGGCGGGGAGTTGC TGTTTTTGTTT		SAPCD2	ENSG00000186193.9	transcript	ENST00000409687.5	protein_coding					4124		chr9	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	360	0.0028	45	c.995 others(60): Show c.995-649_995-648insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATA		SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5						chr8	TogoVar
SASH1_chr6_148337838_148557044	148387608	C C	CTTTCTTC others(38): Show CTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	322	0.0031	45	c.157 others(62): Show c.157-2520_157-2519insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTTTCTT		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387620	C C	CTTCCTTC others(38): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0278 a0001c0023t0007g0278	1	322	0.0031	45	c.157 others(62): Show c.157-2512_157-2511insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTT		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 2640 hits)