Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RGL3_chr19_11389060_11424314	11414502	T T	TATATATA others(41): Show TATATATATATACACCTTCATATATATATATATATATATATACACCTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00621.hp2 others(1): Show HG00544.hp1 HG00621.hp1 HG00621.hp2 NA19079.hp1	a0003 a0010 a0003 a0010	a0003c0008 a0010c0026 a0003c0008 a0010c0026	a0003c0008t0001 a0010c0026t0001 a0003c0008t0001 a0010c0026t0001	a0003c0008t0001g0008 a0003c0008t0001g0371 a0010c0026t0001g0313 a0003c0008t0001g0008 a0003c0008t0001g0371 a0010c0026t0001g0313	4	389	0.0103	48	c.637 others(65): Show c.637+1434_637+1435insGAAGGTGTATATATATATATATATATAT ATGAAGGTGTATATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414504	T T	TATATATA others(41): Show TATATATATACACCTTCATATATATATATATATATATATATACACCTTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18997.hp1 NA18986.hp1 NA18997.hp1	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0001 a0006c0010t0001 a0006c0009t0001 a0006c0010t0001	a0006c0009t0001g0268 a0006c0010t0001g0245 a0006c0009t0001g0268 a0006c0010t0001g0245	2	361	0.0055	48	c.637 others(65): Show c.637+1432_637+1433insGAAGGTGTATATATATATATATATATAT ATATGAAGGTGTATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(41): Show ATATATATACACCTTCATATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19002.hp2 HG00609.hp1 NA19002.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0209 a0002c0007t0001g0217 a0002c0007t0001g0209 a0002c0007t0001g0217	2	383	0.0052	48	c.637 others(65): Show c.637+1431_637+1432insGGTATATATATATATATATATATATATA TATATGAAGGTGTATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(41): Show ATATATATATACACCTTCATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0070 a0001c0003t0002g0070	1	382	0.0026	48	c.637 others(65): Show c.637+1431_637+1432insGGTATATATATATATATATATATATATA TATGAAGGTGTATATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGMA_chr15_93030271_93094211	93033475	G G	GAGGTGGG others(41): Show GAGGTGGGGAGGTGGGGAGGTGGGGAGGTGGGGAGGTGGAGAGGTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03471.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0056 a0001c0002t0017 a0001c0002t0056	a0001c0002t0017g0369 a0001c0002t0056g0014 a0001c0002t0017g0369 a0001c0002t0056g0014	2	287	0.0070	48	c.11 others(61): Show c.11522_*11523insTCCCACCTCTCCACCTCCCCACCTCCCCACCT CCCCACCTCCCCACCT	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding		1795		chr15	TogoVar
RGS14_chr5_177352924_177377596	177369867	C C	CCCACACT others(41): Show CCCACACTCCACCTGCTCCTGCAGCACAGCATAAGCCTACTGCCTGGGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	416	0.0024	48	c.105 others(65): Show c.1054-723_1054-676dupCCACACTCCACCTGCTCCTGCAGCACAG CATAAGCCTACTGCCTGGGA	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS22_chr8_99955936_100111049	100059414	T T	TACAAACT others(41): Show TACAAACTAAAAATAAAGGGATGGAAAAACATGTTCCATGTCAATGGAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	308	0.0032	48	c.151 others(67): Show c.1514+3129_1514+3176dupTTCCATTGACATGGAACATGTTTTTC CATCCCTTTATTTTTAGTTTGT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS6_chr14_71927429_72571530	71936028	A A	ATATATAT others(41): Show ATATATATGTATATGTATATATATATATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0128 a0001c0001t0013g0128	1	130	0.0077	48	c.-21 others(65): Show c.-21+3094_-21+3095insGTATATGTATATATATATATATGTATAT ATATATATATATGTATATAT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72053045	C C	CTCCCTCC others(41): Show CTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02622.hp2 others(4): Show HG01243.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp1 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0113 a0001c0001t0005g0056 a0001c0001t0006g0118 others(4): Show a0001c0001t0001g0113 a0001c0001t0005g0056 a0001c0001t0006g0118 a0001c0001t0014g0029 a0001c0001t0016g0126 a0001c0001t0021g0110 a0001c0001t0028g0086	7	122	0.0574	48	c.84+ others(65): Show c.84+88179_84+88180insTCCCTCCCTTCCCTCCCTTCCCTCCCTC CCTCCCTCCCTTCCCTCCCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72526583	A A	AGGATCAT others(41): Show AGGATCATTTACTCTCACATCCTCTTATGACCTGGAATGATGCCTTATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02922.hp1 others(5): Show HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0005 a0001c0001t0005g0001 a0001c0001t0005g0108 others(5): Show a0001c0001t0001g0005 a0001c0001t0005g0001 a0001c0001t0005g0108 a0001c0001t0009g0008 a0001c0001t0009g0114 a0001c0001t0009g0115 a0001c0001t0014g0002 a0001c0001t0014g0057	8	130	0.0615	48	c.127 others(67): Show c.1278+8047_1278+8094dupGGATCATTTACTCTCACATCCTCTTA TGACCTGGAATGATGCCTTATG	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTATATATATATATATATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	16	0.0625	48	c.175 others(67): Show c.175+30427_175+30428insTATATATATATATACATATATATATA TATATATACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	16	0.0625	48	c.175 others(67): Show c.175+30427_175+30428insTATATATATATATATATATATATATA CACACACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	16	0.0625	48	c.175 others(67): Show c.175+30427_175+30428insTATATATATATATATATATATATACA CACACACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	18	0.0556	48	c.78+ others(65): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03688.hp1 HG03688.hp2 HG03098.hp1 HG03688.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0003g0015 a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0003g0015	3	20	0.1500	48	c.78+ others(65): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	18	0.0556	48	c.78+ others(65): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDF2_chr17_76465896_76506423	76480051	G G	GTGTGTAT others(41): Show GTGTGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	314	0.0032	48	c.151 others(63): Show c.151-198_151-197insTATATATATATATATATATATATATATATA TATATATATATATACACA	RHBDF2	ENSG00000129667.13	transcript	ENST00000675367.1	protein_coding	3/18			chr17	TogoVar
RHCG_chr15_89466407_89501583	89479123	A A	AAAAAAAA others(41): Show AAAAAAAAAAACAAGATAAAGAATTCTCAAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG01243.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	2	343	0.0058	48	c.837 others(63): Show c.837+198_837+199insGTTTTGTTTTGTTTTGTTTTTGAGAATTCT TTATCTTGTTTTTTTTTT	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	5/10			chr15	TogoVar
RHOXF1_chrX_120104051_120120913	120112406	T T	TACATATA others(41): Show TACATATATGTATTATATATAATACACATATGTGTATTATATATAATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG02818.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0055 a0001c0001t0001g0056	2	318	0.0063	48	c.444 others(63): Show c.444+462_444+463insGTATTATATATAATACACATATGTGTATTA TATATAATACATATATGT	RHOXF1	ENSG00000101883.6	transcript	ENST00000217999.3	protein_coding	2/2			chrX	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	182	0.0055	48	c.48 others(59): Show c.4807_*4808insCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RIC8B_chr12_106769682_106894316	106785785	G G	GTCTCTCT others(41): Show GTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0308 a0001c0002t0009g0308	1	187	0.0053	48	c.132 others(65): Show c.132+1761_132+1762insCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	RIC8B	ENSG00000111785.21	transcript	ENST00000392837.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646142	A A	ACCACCTC others(41): Show ACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0018 a0018	a0018c0037 a0018c0037	a0018c0037t0001 a0018c0037t0001	a0018c0037t0001g0002 a0018c0037t0001g0002	1	147	0.0068	48	c.-35 others(69): Show c.-351-17687_-351-17686insAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGGTGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646166	A A	ATCACCTC others(41): Show ATCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0070 a0001c0008t0001g0070	1	163	0.0061	48	c.-35 others(69): Show c.-351-17711_-351-17710insAGAGGGAGGTGGTGAGGGAGGTGG AGAGGGAGGTGGTGAGGGAGGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646238	T T	TCCACCTC others(41): Show TCCACCTCCCTCACCACTTCCCTCACCACCTCCCTCACCACTTCCCTCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0012 a0002c0029t0001g0012	1	153	0.0065	48	c.-35 others(69): Show c.-351-17783_-351-17782insTGAGGGAAGTGGTGAGGGAGGTGG TGAGGGAAGTGGTGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646291	C C	CTCCCTCA others(41): Show CTCCCTCACCACTTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0101 a0001c0022t0001g0101	1	160	0.0063	48	c.-35 others(69): Show c.-351-17836_-351-17835insAGTGGTGAGGGAGGTGGAGAGGCA GGTGGTGAGGGAAGTGGTGAGGGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646401	G G	GCCTCATC others(41): Show GCCTCATCACCTCCCTCACCACCTGCCTCGCCACCTCCCTCACCACCTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0081 a0001c0006t0001g0081	1	114	0.0088	48	c.-35 others(69): Show c.-351-17946_-351-17945insGAGGTGGTGAGGGAGGTGGCGAGG CAGGTGGTGAGGGAGGTGATGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646443	C C	CCACTTCC others(41): Show CCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCGCCACCTCCCTCAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	143	0.0070	48	c.-35 others(69): Show c.-351-17988_-351-17987insATGAGGGAGGTGGCGAGGGAGGTG GAGAGGGAGGTGGAGAGGGAAGTG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646445	A A	ACCTCCCT others(41): Show ACCTCCCTCACCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCACCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0134 a0001c0020t0001g0134	1	161	0.0062	48	c.-35 others(69): Show c.-351-17990_-351-17989insCGGTGAGGGAGGTGGAGAGGGAGG TGGCGAGGGAGGTGGTGAGGGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130647998	C C	CACACACG others(41): Show CACACACGTGTGCACACACATGTGAACACACGTGTGCACACACATGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0087 a0001c0002t0001g0088	2	178	0.0112	48	c.-35 others(69): Show c.-351-19543_-351-19542insTCACATGTGTGTGCACACGTGTGT TCACATGTGTGTGCACACGTGTGT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713189	A A	AGAAGGAA others(41): Show AGAAGGAAGGAAGGAAGGAAGGAAGATAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03471.hp2 NA18906.hp1 HG02258.hp1 HG03471.hp2 NA18906.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0020 a0002c0034 a0008c0013 a0001c0020 a0002c0034 a0008c0013	a0001c0020t0001 a0002c0034t0003 a0008c0013t0003 a0001c0020t0001 a0002c0034t0003 a0008c0013t0003	a0001c0020t0001g0134 a0002c0034t0003g0133 a0008c0013t0003g0135 a0001c0020t0001g0134 a0002c0034t0003g0133 a0008c0013t0003g0135	3	115	0.0261	48	c.-35 others(67): Show c.-352+3032_-352+3033insCTTCCTTCCTTCCTTCCTTCCTATCT TCCTTCCTTCCTTCCTTCCTTC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713215	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0002 a0004c0030t0002	a0004c0030t0002g0142 a0004c0030t0002g0142	1	171	0.0058	48	c.-35 others(67): Show c.-352+3006_-352+3007insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713219	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03130.hp1 HG03486.hp2 HG01074.hp2 HG03130.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0009 a0001c0001 a0001c0005 a0002c0009	a0001c0001t0001 a0001c0005t0001 a0002c0009t0001 a0001c0001t0001 a0001c0005t0001 a0002c0009t0001	a0001c0001t0001g0127 a0001c0005t0001g0129 a0002c0009t0001g0128 a0001c0001t0001g0127 a0001c0005t0001g0129 a0002c0009t0001g0128	3	154	0.0195	48	c.-35 others(67): Show c.-352+3002_-352+3003insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMS2_chr8_103495610_104259430	103587409	G G	GAAGAAAG others(41): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03492.hp1 HG02155.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0040 a0002c0002t0002g0079 a0001c0001t0004g0040 a0002c0002t0002g0079	2	90	0.0222	48	c.177 others(67): Show c.177-64781_177-64734dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	79	0.0127	48	c.249 others(65): Show c.249+5101_249+5102insATATATATATATATATATATATATATAT ATATATATATATATATATAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RNF126_chr19_642526_668214	667346	G G	GTCCCAGG others(41): Show GTCCCAGGCGGACCAAGCCCAGGCGGACCACGTCCCAGGCGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 NA18939.hp2 HG02738.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0242 a0001c0001t0001g0190 a0001c0001t0001g0242	2	418	0.0048	48	c.-42 others(59): Show c.-4226_-4225insACGTGGTCCGCCTGGGACGTGGTCCGCCTGGGCT TGGTCCGCCTGGGA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4133		chr19	TogoVar
RNF126_chr19_642526_668214	667440	G G	GTCCCAGG others(41): Show GTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCCCAGGCGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG03017.hp2 HG04115.hp2 others(6): Show HG02148.hp1 HG03017.hp2 HG04115.hp2 HG04228.hp1 NA18979.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0244 others(6): Show a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0002t0001g0200 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0252 a0002c0003t0001g0236	9	332	0.0271	48	c.-43 others(59): Show c.-4320_-4319insACGTGGTCCGCCTGGGCTTGGTCCGCCTGGGACG TGGTCCGCCTGGGA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4227		chr19	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0148 a0001c0003t0001g0148	1	228	0.0044	48	c.693 others(67): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATATATATATATATATATATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	18	0.0556	48	c.-48 others(65): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF169_chr11_74743849_74847413	74785162	T T	TATATATA others(41): Show TATATATATATGATATATATATATGATATATATATGATATATATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0272 a0001c0001t0026g0272	1	217	0.0046	48	c.503 others(65): Show c.503-4452_503-4405dupATATATATATATGATATATATATGATAT ATATATATGATATATATATG	RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF17_chr13_24759169_24884921	24881980	C C	CTATATAG others(41): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01099.hp1 others(11): Show HG00544.hp1 HG00609.hp1 HG01099.hp1 HG01515.hp1 HG01934.hp2 HG02027.hp1 HG02293.hp1 HG03831.hp1 NA18941.hp1 NA18953.hp2 NA18955.hp1 NA18974.hp1 NA18988.hp2 NA19006.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0003 a0004c0004 a0007c0014 a0002c0003 a0004c0004 a0007c0014	a0002c0003t0002 a0004c0004t0002 a0007c0014t0002 a0002c0003t0002 a0004c0004t0002 a0007c0014t0002	a0002c0003t0002g0375 a0002c0003t0002g0385 a0002c0003t0002g0386 others(11): Show a0002c0003t0002g0375 a0002c0003t0002g0385 a0002c0003t0002g0386 a0002c0003t0002g0390 a0004c0004t0002g0120 a0004c0004t0002g0124 a0004c0004t0002g0128 a0004c0004t0002g0135 a0004c0004t0002g0155 a0004c0004t0002g0159 a0004c0004t0002g0160 a0007c0014t0002g0336 a0007c0014t0002g0358 a0007c0014t0002g0361	14	169	0.0828	48	c.22 others(59): Show c.2254_*2255insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2060		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882050	A A	ATACATCT others(41): Show ATACATCTATATAGATACATCTATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	390	0.0026	48	c.23 others(59): Show c.2324_*2325insTACATCTATATAGATACATCTATATAGATACATC TATATAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2130		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882151	G G	GATACATC others(41): Show GATACATCTATATAGATAGATATATAGATACATCTATATAGATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0320 a0009c0012t0001g0321 a0009c0012t0001g0320 a0009c0012t0001g0321	2	73	0.0274	48	c.24 others(59): Show c.2425_*2426insATACATCTATATAGATAGATATATAGATACATCT ATATAGATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2231		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882169	G G	GATATATA others(41): Show GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	82	0.0122	48	c.24 others(59): Show c.2443_*2444insATATATAGATACATCTATATAGATATATAGATAC ATCTATATAGATAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2249		chr13	TogoVar
RNF213_chr17_80255852_80403794	80314196	A A	ATGGTGGA others(41): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00741.hp1 others(13): Show HG00408.hp1 HG00438.hp2 HG00741.hp1 HG01891.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02647.hp2 HG03491.hp1 HG03831.hp2 NA18942.hp2 NA18947.hp2 NA18957.hp2 NA18970.hp1 NA18983.hp2	a0001 a0002 a0031 others(9): Show a0001 a0002 a0031 a0034 a0035 a0047 a0050 a0052 a0067 a0082 a0091 a0095	a0001c0001 a0001c0006 a0002c0002 others(10): Show a0001c0001 a0001c0006 a0002c0002 a0031c0025 a0034c0086 a0035c0062 a0047c0102 a0050c0059 a0052c0041 a0067c0130 a0082c0052 a0091c0043 a0095c0140	a0001c0001t0001 a0001c0006t0008 a0002c0002t0039 others(10): Show a0001c0001t0001 a0001c0006t0008 a0002c0002t0039 a0031c0025t0011 a0034c0086t0006 a0035c0062t0054 a0047c0102t0002 a0050c0059t0044 a0052c0041t0046 a0067c0130t0002 a0082c0052t0057 a0091c0043t0002 a0095c0140t0011	a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0257 others(13): Show a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0006t0008g0119 a0002c0002t0039g0254 a0031c0025t0011g0256 a0034c0086t0006g0197 a0035c0062t0054g0125 a0047c0102t0002g0020 a0050c0059t0044g0135 a0052c0041t0046g0233 a0067c0130t0002g0012 a0082c0052t0057g0242 a0091c0043t0002g0055 a0095c0140t0011g0178	16	268	0.0597	48	c.281 others(67): Show c.2811+1061_2811+1062insGTGGTGATGGTGGAGGTGGTGGAGGT AATGGAGGTGATGGTGGTGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315249	G G	GTGGTGGT others(41): Show GTGGTGGTGGTGGTGGTGGTGGTGGTAATGGAGGTGATGGTGGTGGTAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0031 a0031	a0031c0025 a0031c0025	a0031c0025t0058 a0031c0025t0058	a0031c0025t0058g0258 a0031c0025t0058g0258	1	241	0.0041	48	c.281 others(67): Show c.2812-1936_2812-1935insTGGTGGTGGTGGTGGTGGTGGTAATG GAGGTGATGGTGGTGGTACTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF44_chr5_176521712_176542402	176530239	C C	CGGGCCTG others(41): Show CGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18965.hp2 NA18967.hp1 others(5): Show HG01952.hp2 NA18965.hp2 NA18967.hp1 NA18975.hp2 NA18984.hp2 NA18989.hp2 NA18994.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0003g0017 others(4): Show a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0003g0059 a0001c0001t0003g0174 a0001c0001t0003g0181 a0001c0001t0003g0182	8	381	0.0210	48	c.802 others(61): Show c.802-34_802-33insACCGGGCTGACTTGCACGTGGGCTCCGGGGCG GCTGGGAGGCAGGCCC	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530239	C C	CGGGCCTG others(41): Show CGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02015.hp1 HG02056.hp1 others(16): Show HG00609.hp1 HG02015.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02809.hp1 HG03710.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp2 NA18961.hp1 NA18961.hp2 NA18999.hp1 NA19003.hp2 NA19010.hp2 NA19056.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0003	a0001c0001t0001g0020 a0001c0001t0001g0103 a0001c0001t0002g0096 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0103 a0001c0001t0002g0096 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0003g0175 a0001c0007t0003g0173	19	392	0.0485	48	c.802 others(61): Show c.802-34_802-33insACCGGGCTGACTTGCACCTGGGCTCCGGGGCG GCTGGGAGGCAGGCCC	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530357	C C	CGGAGCCC others(41): Show CGGAGCCCACGTGCAAGTCAGCCCAGCAGGCCTGCCTCCCAGCTGCCTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG03453.hp1 others(1): Show HG02559.hp1 HG03225.hp2 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0162 a0001c0001t0001g0026 a0001c0001t0001g0162	4	442	0.0090	48	c.802 others(63): Show c.802-152_802-151insCAGGCAGCTGGGAGGCAGGCCTGCTGGGCT GACTTGCACGTGGGCTCC	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530387	C C	CCTGCCTC others(41): Show CCTGCCTCCCAGCTGCCTGGGAGCCCAGATGCAGGTCGGCCCAGCGGGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	3	441	0.0068	48	c.802 others(63): Show c.802-182_802-181insACCCGCTGGGCCGACCTGCATCTGGGCTCC CAGGCAGCTGGGAGGCAG	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RNF44_chr5_176521712_176542402	176530414	G G	GGTGCAAG others(41): Show GGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	424	0.0024	48	c.801 others(63): Show c.801+167_801+168insGTGGGCTCCGGGGCGGCTGGGAGGCAGGCC CACCGGGCTGACTTGCAC	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar

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