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
REXO2_chr11_114434467_114455279	114447054	T T	TCAGCCTC others(24): Show TCAGCCTCCCGAGTAGCTGGGACTACAGGCGC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	438	0.0023	31	c.531 others(46): Show c.531-770_531-740dupAGCCTCCCGAGTAGCTGGGACTACAGGCGC C	REXO2	ENSG00000076043.11	transcript	ENST00000265881.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	372	0.0027	31	c.476 others(48): Show c.476-1217_476-1216insATATATATATATATATATATATATATAT TTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820545	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	372	0.0027	31	c.476 others(48): Show c.476-1217_476-1216insATATATATATATATATATATATATATAT ATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
RFLNA_chr12_124290093_124321024	124296072	T T	TTTTCTTT others(24): Show TTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01361.hp2 others(4): Show HG00735.hp1 HG01109.hp2 HG01361.hp2 HG01891.hp1 HG01928.hp1 HG03017.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0002t0007 a0001c0001t0006 a0001c0001t0008 a0001c0002t0007	a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0008g0110 others(4): Show a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0008g0112 a0001c0001t0008g0113 a0001c0002t0007g0030	7	388	0.0180	31	c.207 others(46): Show c.207+450_207+451insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02129.hp1 others(5): Show HG01099.hp1 HG02055.hp2 HG02129.hp1 HG02572.hp1 HG02615.hp2 HG03041.hp1 HG03139.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 others(2): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 a0001c0004t0002 a0002c0005t0005	a0001c0001t0005g0057 a0001c0001t0011g0069 a0001c0001t0021g0058 others(5): Show a0001c0001t0005g0057 a0001c0001t0011g0069 a0001c0001t0021g0058 a0001c0001t0021g0059 a0001c0004t0002g0060 a0002c0005t0005g0061 a0002c0005t0005g0063 a0002c0005t0005g0064	8	388	0.0206	31	c.207 others(46): Show c.207+527_207+528insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC T	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296167	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03942.hp1 NA19063.hp2 HG03471.hp2 HG03942.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0011 a0001c0002t0002 a0001c0004t0002 a0001c0001t0011 a0001c0002t0002 a0001c0004t0002	a0001c0001t0011g0050 a0001c0002t0002g0062 a0001c0004t0002g0066 a0001c0001t0011g0050 a0001c0002t0002g0062 a0001c0004t0002g0066	3	388	0.0077	31	c.207 others(46): Show c.207+532_207+533insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC T	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16404266	A A	ATTTCATA others(24): Show ATTTCATATATAATATATATTTCATATATAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0116 a0001c0005t0001g0116	1	268	0.0037	31	c.441 others(48): Show c.441+5108_441+5109insATTATATATGAAATATATATTATATATG AAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFX2_chr19_5988164_6115500	6100884	G G	GAATTATA others(24): Show GAATTATATTGATTGAATTAATTAATTGAATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02027.hp1 HG02155.hp1 others(10): Show HG01109.hp2 HG02027.hp1 HG02155.hp1 HG02809.hp2 HG02895.hp2 NA18612.hp1 NA18953.hp1 NA18973.hp2 NA18983.hp2 NA19000.hp1 NA19066.hp2 NA19077.hp1 NA19085.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0009c0010	a0001c0001t0001 a0001c0004t0001 a0003c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0003c0005t0001 a0003c0005t0003 a0009c0010t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0004t0001g0038 others(10): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0004t0001g0038 a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0001g0197 a0003c0005t0003g0020 a0009c0010t0001g0047	13	308	0.0422	31	c.-9+ others(46): Show c.-9+9508_-9+9509insAATTCAATTAATTAATTCAATCAATATAAT T	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3366693	C C	CCTTCTTT others(24): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0029 a0001c0001t0022g0029	1	196	0.0051	31	c.118 others(50): Show c.118-19930_118-19929insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504875	T T	TATAATAT others(24): Show TATAATATTATATATAACATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0088 a0001c0001t0014g0088	1	196	0.0051	31	c.-9+ others(48): Show c.-9+20871_-9+20872insTATATATAATATATGTTATATATAATAT TAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504900	T T	TTATATAT others(24): Show TTATATATATATATATAATATAACATATATTA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0164 a0001c0001t0006g0164	1	196	0.0051	31	c.-9+ others(48): Show c.-9+20846_-9+20847insTAATATATGTTATATTATATATATATAT ATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505333	T T	TATATAAA others(24): Show TATATAAAATAAAATATTTTTATTTATATAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	196	0.0051	31	c.-9+ others(48): Show c.-9+20413_-9+20414insTTTATATAAATAAAAATATTTTATTTTA TAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGPD1_chr2_86937118_87018976	86942511	G G	GGGCGGCG others(24): Show GGGCGGCGGCGGCGGCCTCGACCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	102	0.0098	31	c.72+ others(44): Show c.72+216_72+246dupGGCCTCGACCTGGCCGGGCGGCGGCGGCGGC	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD2_chr2_87750960_87830796	87824786	G G	GAGGCCGA others(24): Show GAGGCCGAGGCCGCCGCCGCCGCCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01070.hp2 others(18): Show HG00099.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01993.hp1 HG02683.hp1 HG02738.hp2 HG03041.hp2 HG03490.hp2 HG03492.hp2 NA18980.hp1 NA19057.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0003 a0004c0005 others(1): Show a0001c0001 a0002c0003 a0004c0005 a0009c0026	a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0004c0005t0001 a0009c0026t0001	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0047 others(18): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0152 a0002c0003t0001g0093 a0004c0005t0001g0029 a0004c0005t0001g0070 a0004c0005t0001g0075 a0009c0026t0001g0096	21	176	0.1193	31	c.72+ others(44): Show c.72+841_72+871dupGGCCGGGCGGCGGCGGCGGCGGCCTCGGCCT	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106466897	G G	GGCTGCCG others(24): Show GGCTGCCGCCGCCTGGCCAGGTCGAGGCCGCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 NA21309.hp2 HG02647.hp1 HG02895.hp2 NA21309.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0030 a0001c0022t0065 a0001c0022t0030 a0001c0022t0065	a0001c0022t0030g0166 a0001c0022t0030g0167 a0001c0022t0065g0261 a0001c0022t0030g0166 a0001c0022t0030g0167 a0001c0022t0065g0261	3	382	0.0079	31	c.72+ others(46): Show c.72+1319_72+1320insGGCGGCCTCGACCTGGCCAGGCGGCGGCAG C	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3341354	A A	AAGGGTGG others(24): Show AAGGGTGGAGAGATGGGGGTACGGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01358.hp2 HG01496.hp1 others(4): Show HG00099.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG06807.hp1	a0001 a0013 a0019 a0001 a0013 a0019	a0001c0002 a0013c0045 a0019c0044 a0001c0002 a0013c0045 a0019c0044	a0001c0002t0001 a0013c0045t0001 a0019c0044t0001 a0001c0002t0001 a0013c0045t0001 a0019c0044t0001	a0001c0002t0001g0173 a0001c0002t0001g0183 a0001c0002t0001g0188 others(4): Show a0001c0002t0001g0173 a0001c0002t0001g0183 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0193 a0013c0045t0001g0166 a0019c0044t0001g0189	7	312	0.0224	31	c.188 others(50): Show c.1882-1567_1882-1537dupGGGTACGGGGGGAGGGAGGGTGGAGA GATGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3341470	C C	CGGGGGGA others(24): Show CGGGGGGAGGGAGGGTGGAGAGATGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0005 a0004c0019t0001g0006 a0004c0019t0001g0005 a0004c0019t0001g0006	2	312	0.0064	31	c.188 others(50): Show c.1882-1438_1882-1437insGTGGGGGGAGGGAGGGTGGAGAGATG GGGGT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3359191	C C	CCCCCTTC others(24): Show CCCCCTTCTCCCCCCTCCTCCCCCCTTCTCCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0162 a0002c0029t0001g0162	1	312	0.0032	31	c.199 others(52): Show c.1998+16143_1998+16144insTCTCCCCCCTCCTCCCCCCTTCTC CTCCCCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(24): Show GCGGGGCGGGGCGGGGCGGGGCGGGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp1 NA20129.hp2 HG01167.hp2 HG02647.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0063 a0002c0002t0001g0032 a0002c0002t0001g0063	3	418	0.0072	31	c.125 others(46): Show c.1254+37_1254+38insGGGGCGGGGCGGGGCGGGGCGGGGCCGGGC C	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS17_chr6_152999459_153136282	153071122	A A	AGTACATA others(24): Show AGTACATATTGTATATGTACATATGTGTATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04115.hp2 HG02602.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0036 a0001c0001t0025g0043 a0001c0001t0001g0036 a0001c0001t0025g0043	2	338	0.0059	31	c.-25 others(50): Show c.-25-27110_-25-27080dupATATACACATATGTACATATACAATA TGTAC	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS20_chr8_53846795_53964303	53947592	A A	ATATAGGA others(24): Show ATATAGGATATAGTATATACATTTATATATGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	258	0.0039	31	c.743 others(46): Show c.743+848_743+849insGGATATAGTATATACATTTATATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948532	T T	TATATTTA others(24): Show TATATTTACATATGCTATATATGATACAGTAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	258	0.0039	31	c.743 others(48): Show c.743+1868_743+1898dupGATACAGTACATATTTACATATGCTATA TAT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948883	C C	CATATGCT others(24): Show CATATGCTATATAAGATACAGTATATATTTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	258	0.0039	31	c.743 others(48): Show c.743+2157_743+2158insTATATTTATATATGCTATATAAGATACA GTA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948968	C C	CATATTTA others(24): Show CATATTTACATATGCTATATAAGATACAGTAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0208 a0001c0001t0011g0208	1	258	0.0039	31	c.743 others(48): Show c.743+2228_743+2258dupCATATGCTATATAAGATACAGTATATAT TTA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS20_chr8_53846795_53964303	53948976	C C	CATATGCT others(24): Show CATATGCTATATAAGATACAGTATATATTTAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	258	0.0039	31	c.743 others(48): Show c.743+2450_743+2480dupGCTATATAAGATACAGTATATATTTATA TAT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS22_chr8_99955936_100111049	100051720	T T	TGTATAAA others(24): Show TGTATAAATATATAAAAAAATATATATATTTA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0091 a0005c0006t0001g0091	1	310	0.0032	31	c.168 others(50): Show c.1689+1081_1689+1082insTAAATATATATATTTTTTTATATATT TATAC	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS3_chr9_113458727_113602738	113600699	A A	AGTGCCAC others(24): Show AGTGCCACTCAGTTGGATGCCAGCAGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02148.hp2 HG03490.hp2 others(3): Show HG02132.hp1 HG02148.hp2 HG03490.hp2 NA18957.hp1 NA18983.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 others(3): Show a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006	6	168	0.0357	31	c.37 others(42): Show c.3746_*3747insGTGCCACTCAGTTGGATGCCAGCAGGAGGGG	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding		2962		chr9	TogoVar
RGS5_chr1_163137299_163207916	163180686	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	322	0.0031	31	c.45- others(48): Show c.45-12319_45-12318insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS6_chr14_71927429_72571530	72053041	C C	CTCCCTCC others(24): Show CTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	130	0.0077	31	c.84+ others(48): Show c.84+88179_84+88180insTCCCTCCCTTCCCTCCCTTCCCTCCCTC CCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7BP_chr5_64501015_64617319	64566177	G G	GTATGATA others(24): Show GTATGATAAACAGATGCCAACTTACTACCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02451.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0036 a0001c0001t0004g0015 a0001c0001t0004g0036	2	280	0.0071	31	c.333 others(48): Show c.333-9595_333-9565dupATGATAAACAGATGCCAACTTACTACCC TCT	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS7BP_chr5_64501015_64617319	64606025	T T	TATATATG others(24): Show TATATATGCTATATATATGTATATCTGGATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18906.hp2 HG02559.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0254 a0001c0001t0004g0255	2	280	0.0071	31	c.683 others(48): Show c.683-3130_683-3129insGCTATATATATGTATATCTGGATACATA TAT	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS7_chr1_240770514_241362205	240955551	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	112	0.0089	31	c.227 others(50): Show c.227-18876_227-18846dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	4/18			chr1	TogoVar
RHOA_chr3_49354145_49416976	49399054	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	264	0.0038	31	c.-3+ others(48): Show c.-3+12735_-3+12765dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATATTTTT others(24): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	368	0.0027	31	c.-48 others(42): Show c.-4898_-4897insTATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02040.hp2 HG02300.hp2 others(5): Show HG01981.hp2 HG02040.hp2 HG02300.hp2 HG03654.hp1 HG03688.hp1 NA18906.hp2 NA18953.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	8	368	0.0217	31	c.-48 others(42): Show c.-4898_-4897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130712376	T T	TTTTCCCT others(24): Show TTTTCCCTATTTGATGTTTTTGTTTTGTTTGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0109 a0001c0011t0001g0109	1	180	0.0056	31	c.-35 others(50): Show c.-352+3845_-352+3846insGCAAACAAAACAAAAACATCAAATAG GGAAA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP3B_chr22_21378751_21394478	21379104	T T	TCCTGATC others(24): Show TCCTGATCTCAAGTGATCCACCCACCTTGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00642.hp2 others(29): Show HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01071.hp2 HG01175.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02683.hp1 HG02818.hp1 HG03041.hp1 HG03471.hp2 HG03579.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18966.hp2 NA18979.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0006 a0007 others(14): Show a0001 a0006 a0007 a0008 a0009 a0013 a0024 a0026 a0027 a0028 a0030 a0032 a0033 a0034 a0035 a0072 a0075	a0001c0002 a0001c0003 a0006c0005 others(16): Show a0001c0002 a0001c0003 a0006c0005 a0007c0068 a0007c0077 a0008c0009 a0009c0016 a0013c0010 a0024c0079 a0026c0083 a0027c0078 a0028c0076 a0030c0075 a0032c0081 a0033c0082 a0034c0071 a0035c0070 a0072c0017 a0075c0012	a0001c0002t0004 a0001c0003t0004 a0006c0005t0004 others(16): Show a0001c0002t0004 a0001c0003t0004 a0006c0005t0004 a0007c0068t0005 a0007c0077t0004 a0008c0009t0001 a0009c0016t0001 a0013c0010t0004 a0024c0079t0001 a0026c0083t0005 a0027c0078t0004 a0028c0076t0007 a0030c0075t0001 a0032c0081t0002 a0033c0082t0002 a0034c0071t0011 a0035c0070t0001 a0072c0017t0002 a0075c0012t0013	a0001c0002t0004g0000 a0001c0003t0004g0000 a0006c0005t0004g0000 others(16): Show a0001c0002t0004g0000 a0001c0003t0004g0000 a0006c0005t0004g0000 a0007c0068t0005g0000 a0007c0077t0004g0000 a0008c0009t0001g0000 a0009c0016t0001g0000 a0013c0010t0004g0000 a0024c0079t0001g0000 a0026c0083t0005g0000 a0027c0078t0004g0000 a0028c0076t0007g0000 a0030c0075t0001g0000 a0032c0081t0002g0000 a0033c0082t0002g0000 a0034c0071t0011g0000 a0035c0070t0001g0000 a0072c0017t0002g0000 a0075c0012t0013g0000	32	118	0.2712	31	c.-47 others(42): Show c.-4755_-4754insCCTGATCTCAAGTGATCCACCCACCTTGGCC	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		4646		chr22	TogoVar
RIMOC1_chr5_41899344_41926636	41901253	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	318	0.0031	31	c.-31 others(42): Show c.-3115_-3114insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding		3090		chr5	TogoVar
RIMS1_chr6_71881550_72408145	72152838	G G	GTATATAT others(24): Show GTATATATATGGAATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp1 HG01952.hp1 others(13): Show HG00140.hp2 HG01169.hp1 HG01952.hp1 HG02004.hp1 HG02165.hp2 HG02280.hp1 HG02559.hp2 HG02647.hp1 HG03130.hp2 HG03516.hp2 HG03669.hp2 HG03834.hp2 NA18522.hp1 NA18747.hp1 NA19057.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0003t0003 a0001c0009t0007	a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 others(13): Show a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0003g0077 a0001c0001t0005g0049 a0001c0001t0006g0035 a0001c0001t0006g0126 a0001c0001t0007g0029 a0001c0001t0007g0106 a0001c0001t0009g0031 a0001c0001t0010g0009 a0001c0003t0003g0096 a0001c0009t0007g0103	16	140	0.1143	31	c.472 others(50): Show c.472-26730_472-26729insATGGAATATATGTATATATATGTATA TATAT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03225.hp2 NA18983.hp2 HG02683.hp1 HG03225.hp2 NA18983.hp2	a0004 a0005 a0027 a0004 a0005 a0027	a0004c0004 a0005c0006 a0027c0032 a0004c0004 a0005c0006 a0027c0032	a0004c0004t0001 a0005c0006t0001 a0027c0032t0011 a0004c0004t0001 a0005c0006t0001 a0027c0032t0011	a0004c0004t0001g0180 a0005c0006t0001g0060 a0027c0032t0011g0010 a0004c0004t0001g0180 a0005c0006t0001g0060 a0027c0032t0011g0010	3	334	0.0090	31	c.249 others(48): Show c.249+5089_249+5090insTATATATATATATATATATATATATATA TAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	368	0.0027	31	c.29 others(42): Show c.2929_*2930insAAAAAAAAAATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	368	0.0027	31	c.29 others(42): Show c.2929_*2930insAAAAAAAATATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RIPK1_chr6_3063494_3120187	3092798	T T	TAACCGCA others(24): Show TAACCGCAGAGCGCCTACCTGCCGCACCTCGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	340	0.0029	31	c.915 others(48): Show c.915+3149_915+3150insAGCGCCTACCTGCCGCACCTCGGAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RLBP1_chr15_89204869_89226579	89224397	T T	TCCTGAGT others(24): Show TCCTGAGTAGCTGGGATTACAGGTGCCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	414	0.0024	31	c.-30 others(42): Show c.-3087_-3086insTGGTGGGCACCTGTAATCCCAGCTACTCAGG	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		2819		chr15	TogoVar
RMDN3_chr15_40730887_40760254	40732142	T T	TAGTTATT others(24): Show TAGTTATTAGTAGTGAATGTGCTGTTTATAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	404	0.0025	31	c.43 others(42): Show c.4368_*4398dupGCTATAAACAGCACATTCACTACTAATAACT	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding		3744		chr15	TogoVar
RMND5A_chr2_86715291_86783041	86737592	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0029 a0001c0004t0008g0029	2	304	0.0066	31	c.143 others(48): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT AAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE10_chr14_20500537_20518884	20506772	C C	CTCTGCCC others(24): Show CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0077 a0001c0001t0011g0077	1	396	0.0025	31	c.-6+ others(44): Show c.-6+753_-6+754insTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1			chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	31	c.-36 others(42): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASET2_chr6_166917113_166961550	166952589	T T	TAAAGTTA others(24): Show TAAAGTTACAGAAAAAATTCATCCACCCATCC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0203 a0001c0002t0036g0203	1	346	0.0029	31	c.87- others(42): Show c.87-72_87-42dupGGATGGGTGGATGAATTTTTTCTGTAACTTT	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	420	0.0024	31	c.-38 others(44): Show c.-38-20_-38-19insATATATATATATATATATATATATATATTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar

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Search Results (Total: 5228 hits)