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
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	26	0.0385	42	c.175 others(59): Show c.175+9602_175+9603insTATATATATATATATATATATATAGAGA GAGAGAGAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RHBDL2_chr1_38880807_38946830	38922758	G G	GAATTTCT others(35): Show GAATTTCTGAGGAAATATTACCTATTAGATTGGTAACAATGAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0222	1	362	0.0028	42	c.-12 others(61): Show c.-125-3463_-125-3422dupTTCATTGTTACCAATCTAATAGGTAA TATTTCCTCAGAAATT	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding	1/7			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706478	A A	ACACACAC others(35): Show ACACACACACACACACCACACACACACACACACACCCCCACAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	406	0.0025	42	c.-77 others(57): Show c.-77+599_-77+600insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTG TGTGTGTGTGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHO_chr3_129523639_129540344	129530528	C C	CACAACAC others(35): Show CACAACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	397	0.0025	42	c.362 others(57): Show c.362-345_362-344insACACACACACACACACACACACACACACAC ACACACACAACA	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
RIC8A_chr11_202708_220113	207359	C C	CGGCCACA others(35): Show CGGCCACAGCCGCCTCAGACGTGGCCACAGCCGCCTCAGACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01255.hp2 others(5): Show HG00738.hp1 HG01099.hp2 HG01255.hp2 HG02622.hp2 NA18969.hp2 NA18990.hp2 NA19005.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0002c0001 a0003c0004 others(1): Show a0001c0002 a0002c0001 a0003c0004 a0005c0006	a0001c0002t0003 a0001c0002t0006 a0002c0001t0001 others(2): Show a0001c0002t0003 a0001c0002t0006 a0002c0001t0001 a0003c0004t0007 a0005c0006t0003	a0001c0002t0003g0001 a0001c0002t0006g0008 a0002c0001t0001g0003 others(2): Show a0001c0002t0003g0001 a0001c0002t0006g0008 a0002c0001t0001g0003 a0003c0004t0007g0008 a0005c0006t0003g0034	8	141	0.0567	42	c.-14 others(53): Show c.-1496_-1495insGGCCACAGCCGCCTCAGACGTGGCCACAGCCGCC TCAGACGT	RIC8A	ENSG00000177963.15	transcript	ENST00000526104.6	protein_coding		348		chr11	TogoVar
RIC8B_chr12_106769682_106894316	106785785	G G	GTCTCTCT others(35): Show GTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0306 a0001c0002t0009g0306	1	187	0.0053	42	c.132 others(59): Show c.132+1761_132+1762insCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	RIC8B	ENSG00000111785.21	transcript	ENST00000392837.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIN2_chr20_19753258_20007456	19833282	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	273	0.0037	42	c.-37 others(61): Show c.-37+33535_-37+33536insATATATATATATATATATATATATAT ATATATATATATATAT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12			chr20	TogoVar
RIN2_chr20_19753258_20007456	19924208	A A	ACCTTCAT others(35): Show ACCTTCATACCCCACCTCTTCATACCCCCACCTTCACACCCTC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18961.hp1 NA18949.hp2 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0003 a0001c0016t0003 a0001c0002t0003 a0001c0016t0003	a0001c0002t0003g0125 a0001c0016t0003g0079 a0001c0002t0003g0125 a0001c0016t0003g0079	2	197	0.0102	42	c.58- others(59): Show c.58-10891_58-10890insCCTTCATACCCCACCTCTTCATACCCCC ACCTTCACACCCTC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
RIOK2_chr5_97155867_97188247	97180142	G G	GTATGTAT others(35): Show GTATGTATATATATATATATATATATATATGTATGTATATATA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	53	0.0189	42	c.67- others(55): Show c.67-950_67-949insTATATATACATACATATATATATATATATATA TATATACATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	101	0.0099	42	c.-27 others(51): Show c.-275_-274insATATATATATATATATATATATATATATATATATAT ATATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNF141_chr11_10506673_10546187	10539687	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0052 a0001c0001t0006g0052	1	355	0.0028	42	c.-48 others(59): Show c.-48+1434_-48+1435insATATATATATATATATATATATATATAT ATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp1 others(10): Show HG01069.hp2 HG01071.hp2 HG01074.hp1 HG02145.hp2 HG02523.hp1 HG02818.hp1 HG03453.hp1 HG03490.hp2 NA18997.hp2 NA19065.hp2 NA19084.hp2 NA19087.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0210 a0001c0001t0002g0008 a0001c0001t0002g0039 others(5): Show a0001c0001t0001g0210 a0001c0001t0002g0008 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0004g0098 a0001c0001t0004g0211	13	30	0.4333	42	c.-48 others(59): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(35): Show TATATATATATATATATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	129	0.0078	42	c.-48 others(59): Show c.-48+1422_-48+1423insTATATATATATATATATATATATAATAT ATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF148_chr7_122696668_122707922	122705884	A A	ATATAATA others(35): Show ATATAATATAATATAATATATAATATAATATATAATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	371	0.0027	42	c.-31 others(53): Show c.-3135_-3134insATTATATATTATATATTATATTATATATTATATT ATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2963		chr7	TogoVar
RNF150_chr4_140854807_141138469	140945571	A A	ATACATAT others(35): Show ATACATATATATACTACATATATACATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02622.hp2 HG02970.hp1 others(5): Show HG01071.hp2 HG02622.hp2 HG02970.hp1 HG03195.hp2 HG03471.hp1 NA18960.hp2 NA19030.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0013 a0001c0001t0023 a0001c0001t0061 others(3): Show a0001c0001t0013 a0001c0001t0023 a0001c0001t0061 a0001c0001t0065 a0001c0001t0096 a0003c0003t0008	a0001c0001t0013g0158 a0001c0001t0023g0010 a0001c0001t0061g0082 others(5): Show a0001c0001t0013g0158 a0001c0001t0023g0010 a0001c0001t0061g0082 a0001c0001t0065g0145 a0001c0001t0096g0099 a0003c0003t0008g0048 a0003c0003t0008g0073 a0003c0003t0008g0164	8	182	0.0440	42	c.890 others(59): Show c.890+2041_890+2082dupGTATATATATGTATATATGTATATATGT AGTATATATATGTA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	4/6			chr4	TogoVar
RNF152_chr18_61803067_61898007	61843147	T T	TAAGTGCC others(35): Show TAAGTGCCAAGAGCACCTGAACAACTGTTGCTGAATGACTGAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19010.hp2 NA18960.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0035 a0001c0001t0022 a0001c0001t0035	a0001c0001t0022g0272 a0001c0001t0035g0273 a0001c0001t0022g0272 a0001c0001t0035g0273	2	308	0.0065	42	c.-13 others(63): Show c.-135-26591_-135-26550dupCTCAGTCATTCAGCAACAGTTGTT CAGGTGCTCTTGGCACTT	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF152_chr18_61803067_61898007	61844077	G G	GGAAAGAA others(35): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18956.hp2 NA19088.hp2 HG03710.hp1 NA18956.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0047 a0001c0002t0069 a0001c0002t0005 a0001c0002t0047 a0001c0002t0069	a0001c0002t0005g0216 a0001c0002t0047g0221 a0001c0002t0069g0189 a0001c0002t0005g0216 a0001c0002t0047g0221 a0001c0002t0069g0189	3	123	0.0244	42	c.-13 others(63): Show c.-135-27480_-135-27479insTTTCTTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF152_chr18_61803067_61898007	61844077	G G	GGAAAGAA others(35): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0222 a0001c0002t0005g0222	1	121	0.0083	42	c.-13 others(63): Show c.-135-27480_-135-27479insTTTCTTTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF152_chr18_61803067_61898007	61844078	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02486.hp1 HG01167.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0024 a0001c0002t0005 a0001c0002t0024	a0001c0002t0005g0226 a0001c0002t0024g0210 a0001c0002t0005g0226 a0001c0002t0024g0210	2	307	0.0065	42	c.-13 others(63): Show c.-135-27522_-135-27481dupTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF152_chr18_61803067_61898007	61844082	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0208 a0001c0002t0059g0208	1	307	0.0033	42	c.-13 others(63): Show c.-135-27526_-135-27485dupTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding	1/1			chr18	TogoVar
RNF157_chr17_76137474_76245493	76182760	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0046 a0001c0001t0021g0046	1	95	0.0105	42	c.208 others(59): Show c.208-8971_208-8970insATATATATATATATATATATATATATAT ATATATATATATAT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF168_chr3_196463783_196508768	196471196	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0224 a0002c0002t0005g0224	1	82	0.0122	42	c.62 others(51): Show c.622_*623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RNF168	ENSG00000163961.4	transcript	ENST00000318037.3	protein_coding	6/6	622		chr3	TogoVar
RNF17_chr13_24759169_24884921	24881880	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	420	0.0024	42	c.21 others(53): Show c.2154_*2155insTAGATACATCTATATATAGATACATCTATATATA GATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1960		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881902	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 NA18962.hp1 HG01358.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0196 a0001c0001t0001g0201	2	415	0.0048	42	c.21 others(53): Show c.2176_*2177insTAGATACATCTATATATAGATACATCTATATATA GATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1982		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881924	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01257.hp2 others(5): Show HG01123.hp2 HG01167.hp1 HG01257.hp2 HG01258.hp2 HG01952.hp1 HG02738.hp2 HG03490.hp2 NA19064.hp2	a0002 a0003 a0014 a0002 a0003 a0014	a0002c0003 a0003c0006 a0014c0024 a0002c0003 a0003c0006 a0014c0024	a0002c0003t0001 a0003c0006t0001 a0014c0024t0001 a0002c0003t0001 a0003c0006t0001 a0014c0024t0001	a0002c0003t0001g0324 a0002c0003t0001g0331 a0002c0003t0001g0334 others(5): Show a0002c0003t0001g0324 a0002c0003t0001g0331 a0002c0003t0001g0334 a0002c0003t0001g0360 a0002c0003t0001g0370 a0002c0003t0001g0378 a0003c0006t0001g0173 a0014c0024t0001g0169	8	402	0.0199	42	c.21 others(53): Show c.2198_*2199insTAGATACATCTATATATAGATACATCTATATATA GATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2004		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881946	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 NA19240.hp1 HG02723.hp1 NA19240.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0001 a0003c0006t0001 a0002c0003t0001 a0003c0006t0001	a0002c0003t0001g0389 a0003c0006t0001g0172 a0002c0003t0001g0389 a0003c0006t0001g0172	2	386	0.0052	42	c.22 others(53): Show c.2220_*2221insTAGATACATCTATATATAGATACATCTATATATA GATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2026		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882004	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02896.hp2 others(2): Show HG02055.hp2 HG02257.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1	a0003 a0008 a0003 a0008	a0003c0006 a0003c0007 a0008c0013 a0003c0006 a0003c0007 a0008c0013	a0003c0006t0001 a0003c0007t0001 a0008c0013t0001 a0003c0006t0001 a0003c0007t0001 a0008c0013t0001	a0003c0006t0001g0167 a0003c0007t0001g0024 a0003c0007t0001g0025 others(2): Show a0003c0006t0001g0167 a0003c0007t0001g0024 a0003c0007t0001g0025 a0008c0013t0001g0341 a0008c0013t0001g0344	5	382	0.0131	42	c.22 others(53): Show c.2278_*2279insTAGATACATCTATATATAGATACATCTATATATA GATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2084		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882026	A A	ATAGATAC others(35): Show ATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0025 a0003c0007t0001g0025	1	408	0.0025	42	c.23 others(53): Show c.2300_*2301insTAGATACATCTATATATAGATACATCTATATATA GATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2106		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882211	T T	TATATAGA others(35): Show TATATAGATACATCTATATAGATATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 NA18999.hp2 HG01993.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0290 a0001c0001t0001g0292	2	246	0.0081	42	c.24 others(53): Show c.2485_*2486insATATAGATACATCTATATAGATATATAGATACAT CTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2291		chr13	TogoVar
RNF185_chr22_31155182_31212019	31184074	C C	CGGACGGG others(35): Show CGGACGGGGCGGCTGGCCGGGCGGGGGCTGCCCACCACCTCCT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	376	0.0027	42	c.-48 others(59): Show c.-48-2963_-48-2922dupGGCTGGCCGGGCGGGGGCTGCCCACCAC CTCCTGGACGGGGC	RNF185	ENSG00000138942.17	transcript	ENST00000326132.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
RNF213_chr17_80255852_80403794	80314427	C C	CTGGAGGT others(35): Show CTGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0071 a0071	a0071c0073 a0071c0073	a0071c0073t0053 a0071c0073t0053	a0071c0073t0053g0158 a0071c0073t0053g0158	1	247	0.0040	42	c.281 others(61): Show c.2811+1275_2811+1276insTGGTGGTGGTGGTGGTGGTGGTGGTA ATGGAGGTGATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02896.hp2 HG01099.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0007 a0001c0001t0001 a0001c0008t0007	a0001c0001t0001g0194 a0001c0008t0007g0242 a0001c0001t0001g0194 a0001c0008t0007g0242	2	25	0.0800	42	c.-69 others(59): Show c.-69-7250_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0237 a0001c0001t0013g0237	1	6	0.1667	42	c.-2- others(57): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0021 a0001c0002t0004g0021	1	11	0.0909	42	c.88+ others(59): Show c.88+39628_88+39629insTTTTCTTTTCTTTCTTTCCTTTCTTTCT TTCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROCK1_chr18_20941906_21116813	20959079	T T	TATTATAT others(35): Show TATTATATATAATATATATAATATTATATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	210	0.0048	42	c.351 others(59): Show c.3512+760_3512+761insTATATATAATATATATATAATATTATAT ATATTATATATAAT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGAGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0094 a0002c0002t0038g0094	1	217	0.0046	42	c.142 others(59): Show c.142-8255_142-8254insTCTCTCTCTCCTCCTCTCTCTCTCTCTC CTCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(35): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0145 a0001c0001t0007g0145	1	46	0.0217	42	c.142 others(59): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18906.hp1 HG01192.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0005 a0001c0007t0004 a0001c0002t0005 a0001c0007t0004	a0001c0002t0005g0049 a0001c0007t0004g0079 a0001c0002t0005g0049 a0001c0007t0004g0079	2	70	0.0286	42	c.163 others(59): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA TATATATATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG03139.hp1 others(2): Show HG02280.hp1 HG02486.hp2 HG03139.hp1 HG03486.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0009 a0001c0002 a0001c0003 a0002c0009	a0001c0002t0056 a0001c0003t0015 a0001c0003t0027 others(2): Show a0001c0002t0056 a0001c0003t0015 a0001c0003t0027 a0001c0003t0029 a0002c0009t0007	a0001c0002t0056g0110 a0001c0003t0015g0075 a0001c0003t0027g0039 others(2): Show a0001c0002t0056g0110 a0001c0003t0015g0075 a0001c0003t0027g0039 a0001c0003t0029g0070 a0002c0009t0007g0118	5	11	0.4545	42	c.166 others(63): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPA2_chr1_27886524_27919575	27916762	T T	TTCCTCCT others(35): Show TTCCTCCTCCTCTTTCCTCCTCCACCCTCCTCCTCCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01891.hp1 HG02015.hp1 others(1): Show HG00544.hp2 HG01891.hp1 HG02015.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0002g0007 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0002g0007 a0001c0001t0002g0033	4	359	0.0111	42	c.-23 others(53): Show c.-2320_-2319insGGAGAGAGGAGGAGGAGGGTGGAGGAGGAAAGAG GAGGAGGA	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2188		chr1	TogoVar
RPA2_chr1_27886524_27919575	27916916	C C	CCCTCCCT others(35): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(18): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00735.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02698.hp1 HG02735.hp2 HG03669.hp1 HG03688.hp2 HG04115.hp2 HG04199.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0004 a0001c0001t0002g0164 a0001c0001t0002g0172 others(10): Show a0001c0001t0002g0004 a0001c0001t0002g0164 a0001c0001t0002g0172 a0001c0001t0002g0194 a0001c0001t0004g0038 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215	21	357	0.0588	42	c.-24 others(53): Show c.-2474_-2473insAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGGAGG GAGGGAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2342		chr1	TogoVar
RPEL1_chr10_103240887_103253016	103251205	G G	GCCATCAC others(35): Show GCCATCACCACCTCCACCACCATCACCATCTCCACCATCACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19074.hp1 NA19057.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	332	0.0060	42	c.45 others(53): Show c.4522_*4523insCCATCACCACCTCCACCACCATCACCATCTCCAC CATCACCA	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3190		chr10	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0325 a0001c0001t0007g0325	1	213	0.0047	42	c.235 others(59): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATATACACACACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0327 a0001c0001t0007g0327	1	213	0.0047	42	c.235 others(59): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATATATACACACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp1 HG02486.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0010 a0002c0002t0009 a0002c0002t0010	a0002c0002t0009g0260 a0002c0002t0010g0257 a0002c0002t0009g0260 a0002c0002t0010g0257	2	214	0.0093	42	c.235 others(59): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATATATATATACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPH3AL_chr17_207389_357807	321582	T T	TGGCCCAG others(35): Show TGGCCCAGGTGGCAACAGAGACGGCCCAGGTGGCAACAGAGAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0018 a0007c0014t0018	a0007c0014t0018g0102 a0007c0014t0018g0102	1	110	0.0091	42	c.78- others(55): Show c.78-209_78-168dupGTCTCTGTTGCCACCTGGGCCGTCTCTGTTGC CACCTGGGCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(35): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00735.hp2 HG02273.hp1 others(2): Show HG00438.hp2 HG00735.hp2 HG02273.hp1 HG03927.hp2 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0016 a0001c0001 a0001c0002 a0006c0016	a0001c0001t0042 a0001c0001t0174 a0001c0001t0175 others(2): Show a0001c0001t0042 a0001c0001t0174 a0001c0001t0175 a0001c0002t0173 a0006c0016t0042	a0001c0001t0042g0029 a0001c0001t0174g0135 a0001c0001t0175g0149 others(2): Show a0001c0001t0042g0029 a0001c0001t0174g0135 a0001c0001t0175g0149 a0001c0002t0173g0097 a0006c0016t0042g0032	5	11	0.4545	42	c.-24 others(51): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791901	A A	AGAGAGAG others(35): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0157 a0001c0003t0157	a0001c0003t0157g0006 a0001c0003t0157g0006	1	264	0.0038	42	c.-24 others(51): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CTGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	155	0.0065	42	c.-17 others(53): Show c.-1706_-1705insTATATATATATATATATATATATATATTTTTTTT TTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL13_chr16_89555682_89569542	89566206	C C	CTGATCGG others(35): Show CTGATCGGGGATAGTCTCAGAAGGCGCTAGTCTCCTGCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG06807.hp1 HG00323.hp1 HG01123.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0002c0003t0001g0001 a0001c0001t0001g0001 a0002c0003t0001g0001	3	319	0.0094	42	c.31 others(53): Show c.3164_*3165insTGATCGGGGATAGTCTCAGAAGGCGCTAGTCTCC TGCCCCGG	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		1665		chr16	TogoVar

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