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
RIOK1_chr6_7384808_7423037	7420103	A A	ACCACACC others(20): Show ACCACACCTGGCTAATTTTTGTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	372	0.0027	27	c.26 others(38): Show c.2662_*2663insCCACACCTGGCTAATTTTTGTATTTTT	RIOK1	ENSG00000124784.9	transcript	ENST00000379834.7	protein_coding		2067		chr6	TogoVar
RIPK2_chr8_89752816_89796064	89753748	A A	ATATTAAT others(20): Show ATATTAATATATAAATATAGTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	291	0.0034	27	c.-43 others(38): Show c.-4313_-4312insTATTAATATATAAATATAGTATATATT	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		4067		chr8	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(20): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0002 a0001c0034t0002	a0001c0034t0002g0298 a0001c0034t0002g0298	1	255	0.0039	27	c.48 others(38): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(20): Show CTTCTTCTTCTTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	228	0.0044	27	c.47 others(38): Show c.4781_*4782insTAATAATAATAATAATAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTCTTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	228	0.0044	27	c.47 others(38): Show c.4781_*4782insTAATAATAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTCTTCTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	228	0.0044	27	c.47 others(38): Show c.4781_*4782insTAATAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(20): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	228	0.0044	27	c.47 others(38): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR2_chr6_24799284_24940960	24927290	C C	CCACTACA others(20): Show CCACTACAGCTACAATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0027 a0001c0004t0006g0027	1	326	0.0031	27	c.61+ others(42): Show c.61+8547_61+8548insATGGTGGTGGTGATTGTAGCTGTAGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50610111	A A	ACCTGCCA others(20): Show ACCTGCCACCCCTGCCTCCCCTGCCTCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	278	0.0036	27	c.427 others(42): Show c.427-390_427-389insGGAGGCAGGGGAGGCAGGGGTGGCAGG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	6/21			chr20	TogoVar
RLF_chr1_40156387_40245921	40224623	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18747.hp1 HG01175.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0187 a0001c0001t0001g0189	2	56	0.0357	27	c.947 others(44): Show c.947+1918_947+1944dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18970.hp1 NA19060.hp1 HG02647.hp1 NA18970.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0253 a0001c0001t0003g0048 a0001c0001t0001g0253 a0001c0001t0003g0048	3	59	0.0508	27	c.911 others(44): Show c.911-1428_911-1427insAAAAAAAAAAAAAAAAAAAAAAAAAAA	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	142	0.0070	27	c.-36 others(38): Show c.-3657_-3656insAAGAAAGAAAGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASET2_chr6_166917113_166961550	166953879	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG02074.hp2 others(11): Show HG00408.hp1 HG00621.hp2 HG02074.hp2 NA18747.hp1 NA18957.hp1 NA18980.hp1 NA18988.hp1 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19001.hp1 NA19010.hp1 NA19055.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0126 a0001c0002t0003 others(7): Show a0001c0001t0018 a0001c0001t0126 a0001c0002t0003 a0001c0002t0036 a0001c0002t0116 a0001c0002t0119 a0001c0002t0122 a0001c0002t0123 a0001c0002t0125 a0001c0002t0128	a0001c0001t0018g0211 a0001c0001t0126g0215 a0001c0002t0003g0197 others(11): Show a0001c0001t0018g0211 a0001c0001t0126g0215 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0210 a0001c0002t0036g0209 a0001c0002t0116g0212 a0001c0002t0119g0204 a0001c0002t0122g0214 a0001c0002t0123g0206 a0001c0002t0125g0213 a0001c0002t0128g0205	14	288	0.0486	27	c.87- others(42): Show c.87-1332_87-1331insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8			chr6	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18949.hp1 NA19080.hp1 NA18941.hp2 NA18949.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069	3	101	0.0297	27	c.-38 others(40): Show c.-38-20_-38-19insATATATATATATATATATATATATTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RNF111_chr15_58982663_59102419	59098865	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 NA18944.hp1 HG01934.hp1 NA18944.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0005 a0003c0006t0006 a0001c0001t0005 a0003c0006t0006	a0001c0001t0005g0290 a0003c0006t0006g0315 a0001c0001t0005g0290 a0003c0006t0006g0315	2	27	0.0741	27	c.39 others(38): Show c.3965_*3966insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF111	ENSG00000157450.16	transcript	ENST00000348370.9	protein_coding		1447		chr15	TogoVar
RNF112_chr17_19406232_19422276	19408763	T T	TCAACAAC others(20): Show TCAACAACAACAACAACAACAACAACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	353	0.0028	27	c.-26 others(38): Show c.-2646_-2645insCAACAACAACAACAACAACAACAACAA	RNF112	ENSG00000128482.16	transcript	ENST00000461366.2	protein_coding		2468		chr17	TogoVar
RNF130_chr5_179950067_180076759	179998886	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19007.hp1 HG02155.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0264 a0001c0001t0001g0271	2	281	0.0071	27	c.693 others(46): Show c.693+14174_693+14175insTATATATATATATATATATATATATA T	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF13_chr3_149808215_149967139	149860270	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	221	0.0045	27	c.195 others(44): Show c.195+7675_195+7676insAAAAAAAAAAATATATATATATATATA	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF13_chr3_149808215_149967139	149865343	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02738.hp1 HG03710.hp1 HG00735.hp1 HG02738.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0016 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0001t0001g0016 a0001c0002t0004g0018 a0001c0002t0004g0019	3	270	0.0111	27	c.196 others(44): Show c.196-6678_196-6677insATATATATATATATATATAATATATAT	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02451.hp1 HG03453.hp2 others(3): Show HG02083.hp2 HG02451.hp1 HG03453.hp2 HG03579.hp1 NA18952.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0002t0001	a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0008g0181 others(3): Show a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0008g0181 a0001c0001t0014g0064 a0001c0002t0001g0182 a0001c0002t0001g0284	6	134	0.0448	27	c.-48 others(44): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF144A_chr2_6912412_7049179	7032190	A A	ACGCCCCT others(20): Show ACGCCCCTTGCAGCTCTGCTGGAATCCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01109.hp1 others(44): Show HG00642.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01358.hp2 HG01975.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18981.hp1 NA18998.hp2 NA19043.hp2 NA19062.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0002t0013 a0001c0007t0009 a0002c0003t0003 a0002c0003t0004 a0002c0003t0009 a0002c0003t0039	a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0032 others(44): Show a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0017 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0043 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0108 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0183 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0004g0237 a0001c0001t0009g0265 a0001c0001t0009g0297 a0001c0001t0009g0303 a0001c0001t0014g0302 a0001c0001t0015g0262 a0001c0001t0017g0244 a0001c0001t0019g0037 a0001c0001t0023g0070 a0001c0001t0025g0088 a0001c0001t0027g0076 a0001c0002t0013g0021 a0001c0002t0013g0058 a0001c0007t0009g0004 a0002c0003t0003g0130 a0002c0003t0004g0120 a0002c0003t0004g0164 a0002c0003t0009g0252 a0002c0003t0009g0305 a0002c0003t0039g0039	47	266	0.1767	27	c.747 others(44): Show c.747+2130_747+2156dupGGAATCCGCGCCCCTTGCAGCTCTGCT	RNF144A	ENSG00000151692.15	transcript	ENST00000320892.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF144A_chr2_6912412_7049179	7032190	A A	ACGCCCCT others(20): Show ACGCCCCTTGCAGCTCTGCTGGAATCTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0069 a0001c0001t0021g0069	1	220	0.0045	27	c.747 others(44): Show c.747+2000_747+2001insTGCGCCCCTTGCAGCTCTGCTGGAATC	RNF144A	ENSG00000151692.15	transcript	ENST00000320892.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF144A_chr2_6912412_7049179	7032345	G G	GGAATCCG others(20): Show GGAATCCGCGCCCCTTGCAGCTCTGCTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0304 a0001c0001t0009g0304	1	181	0.0055	27	c.747 others(44): Show c.747+2158_747+2184dupGAATCCGCGCCCCTTGCAGCTCTGCTC	RNF144A	ENSG00000151692.15	transcript	ENST00000320892.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF148_chr7_122696668_122707922	122706093	T T	TATATATA others(20): Show TATATATATATGCTTATATATTCAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01433.hp2 HG02004.hp2 others(6): Show HG01081.hp1 HG01433.hp2 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02451.hp1 NA18951.hp1 NA19057.hp1 NA20300.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0007 a0008c0008 a0001c0001 a0004c0007 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0004c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0007t0001 a0008c0008t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0004c0007t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0004c0007t0001g0000 a0008c0008t0001g0000	9	430	0.0209	27	c.-33 others(38): Show c.-3370_-3344dupTCCTTGAATATATAAGCATATATATAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3172		chr7	TogoVar
RNF170_chr8_42848301_42901605	42896748	A A	AGCGGCGG others(20): Show AGCGGCGGCGGCGGCGGCGGCGGCGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	171	0.0058	27	c.-29 others(36): Show c.-299_-273dupCGCCGCCGCCGCCGCCGCCGCCGCCGC	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding		144		chr8	TogoVar
RNF17_chr13_24759169_24884921	24771323	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	11	0.0909	27	c.226 others(44): Show c.226-3489_226-3463dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF19A_chr8_100252067_100314953	100256511	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(35): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00673.hp2 HG00741.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02165.hp1 HG02735.hp1 HG02895.hp2 HG03041.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18747.hp1 NA18972.hp1 NA18989.hp1 NA18997.hp1 NA18999.hp2 NA19009.hp2 NA19058.hp1 NA19072.hp2 NA19076.hp1 NA19080.hp1 NA19084.hp1 NA19087.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0118 a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0012g0055	38	157	0.2420	27	c.20 others(38): Show c.2044_*2045insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		555		chr8	TogoVar
RNF213_chr17_80255852_80403794	80313903	T T	TGGTGTAG others(20): Show TGGTGTAGGTGATGGTGGAGGTAATGGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0061 a0003c0005t0061	a0003c0005t0061g0044 a0003c0005t0061g0044	1	288	0.0035	27	c.281 others(44): Show c.2811+740_2811+741insTAGGTGATGGTGGAGGTAATGGAGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314338	T T	TGGTGGTG others(20): Show TGGTGGTGGTGATGGTGGTTGTGGTGGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18954.hp2 NA19086.hp1 NA18944.hp2 NA18954.hp2 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0022 a0001c0003t0001 a0001c0004t0022	a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0004t0022g0106 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0004t0022g0106	3	262	0.0115	27	c.281 others(46): Show c.2811+1181_2811+1182insATGGTGGTTGTGGTGGAGGTGGTGGT G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314403	G G	GTGGTGGT others(20): Show GTGGTGGTGGAGGTGACAATGGTGATGC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0107	1	184	0.0054	27	c.281 others(46): Show c.2811+1245_2811+1246insAGGTGACAATGGTGATGCTGGTGGTG G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314867	A A	ACTGGAGG others(20): Show ACTGGAGGTGATGGTGGTAAAGGTGATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00280.hp2 HG00733.hp2	a0019 a0040 a0019 a0040	a0019c0090 a0040c0093 a0019c0090 a0040c0093	a0019c0090t0004 a0040c0093t0001 a0019c0090t0004 a0040c0093t0001	a0019c0090t0004g0092 a0040c0093t0001g0101 a0019c0090t0004g0092 a0040c0093t0001g0101	2	286	0.0070	27	c.281 others(46): Show c.2811+1700_2811+1701insCTGGAGGTGATGGTGGTAAAGGTGAT G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80315222	G G	GAGGTGAT others(20): Show GAGGTGATGGTGGAGGTGGTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0012 a0004c0044t0012	a0004c0044t0012g0190 a0004c0044t0012g0190	1	236	0.0042	27	c.281 others(46): Show c.2812-1966_2812-1965insAGGTGATGGTGGAGGTGGTGGAGGTG A	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80315497	G G	GGTGAAGG others(20): Show GGTGAAGGTGATGGTAGAGGTAATGGAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG02615.hp1 HG02717.hp2	a0063 a0069 a0063 a0069	a0063c0145 a0069c0103 a0063c0145 a0069c0103	a0063c0145t0029 a0069c0103t0029 a0063c0145t0029 a0069c0103t0029	a0063c0145t0029g0174 a0069c0103t0029g0018 a0063c0145t0029g0174 a0069c0103t0029g0018	2	287	0.0070	27	c.281 others(46): Show c.2812-1688_2812-1687insAAGGTGATGGTAGAGGTAATGGAAGT G	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5660943	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	124	0.0081	27	c.206 others(46): Show c.2062-8434_2062-8433insAAAAAAAAAAAAAAAAAAAAAAAAAA A	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	13/16			chr7	TogoVar
RNF216_chr7_5615047_5786663	5768351	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	272	0.0037	27	c.-69 others(44): Show c.-69-7240_-69-7214dupGTGTGTGTGTGTGTGTGTGTGTGTGTG	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF217_chr6_124957437_125097633	124989057	A A	ATTACCTT others(20): Show ATTACCTTACCATTGGTAAGTAGCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00642.hp2 others(59): Show HG00408.hp2 HG00423.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG03669.hp2 HG03704.hp1 NA18747.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18999.hp1 NA19004.hp1 NA19010.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19083.hp1 NA19085.hp2 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0005c0007 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0032 a0001c0001t0042 a0001c0001t0050 a0001c0001t0052 a0001c0001t0055 a0001c0001t0058 a0001c0001t0063 a0001c0001t0066 a0002c0002t0075 a0004c0005t0020 a0005c0007t0006 a0005c0007t0021 a0009c0015t0053	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 others(59): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0097 a0001c0001t0002g0112 a0001c0001t0003g0239 a0001c0001t0004g0045 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0095 a0001c0001t0005g0060 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0091 a0001c0001t0012g0061 a0001c0001t0012g0064 a0001c0001t0014g0059 a0001c0001t0014g0096 a0001c0001t0015g0044 a0001c0001t0016g0082 a0001c0001t0019g0076 a0001c0001t0022g0041 a0001c0001t0032g0078 a0001c0001t0042g0052 a0001c0001t0050g0040 a0001c0001t0052g0048 a0001c0001t0055g0073 a0001c0001t0058g0053 a0001c0001t0063g0090 a0001c0001t0066g0165 a0002c0002t0075g0039 a0004c0005t0020g0087 a0004c0005t0020g0088 a0004c0005t0020g0089 a0005c0007t0006g0094 a0005c0007t0021g0093 a0009c0015t0053g0247	62	266	0.2331	27	c.882 others(46): Show c.882+25633_882+25634insACCTTACCATTGGTAAGTAGCTTTCT T	RNF217	ENSG00000146373.17	transcript	ENST00000521654.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF223_chr1_1065967_1079306	1074378	G G	GGCTGGCT others(20): Show GGCTGGCTTCATCCTCTCCTTGGCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	27	c.-37 others(36): Show c.-373_-372insGCCCGCCAAGGAGAGGATGAAGCCAGC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		73		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078349	G G	GGGGGGTG others(20): Show GGGGGGTGGCTGAGGCTATGGGACTCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	250	0.0040	27	c.-43 others(38): Show c.-4344_-4343insACGAGTCCCATAGCCTCAGCCACCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4044		chr1	TogoVar
RNF223_chr1_1065967_1079306	1079129	G G	GGGGGAGG others(20): Show GGGGGAGGCTGAGGCTATGGGACTCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	321	0.0031	27	c.-51 others(38): Show c.-5124_-5123insACGGAGTCCCATAGCCTCAGCCTCCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4824		chr1	TogoVar
RNF24_chr20_3922311_4020558	3966507	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG04199.hp2 HG02622.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0050 a0001c0001t0045 a0001c0001t0050	a0001c0001t0045g0076 a0001c0001t0050g0016 a0001c0001t0045g0076 a0001c0001t0050g0016	2	356	0.0056	27	c.-7- others(42): Show c.-7-2484_-7-2483insCACACACACACACACACACACACACAC	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19079.hp2 NA18942.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0092 a0001c0001t0007g0215 a0001c0001t0004g0092 a0001c0001t0007g0215	2	7	0.2857	27	c.-2- others(42): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF34_chr12_121395118_121429348	121406283	A A	AGTTGTTG others(20): Show AGTTGTTGTTGTTGTTGTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02735.hp2 HG02896.hp1 others(2): Show HG02572.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0213 a0001c0001t0002g0226 others(2): Show a0001c0001t0002g0201 a0001c0001t0002g0213 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0245	5	122	0.0410	27	c.6+6 others(40): Show c.6+6086_6+6087insGTTGTTGTTGTTGTTGTTGTTGTTGTT	RNF34	ENSG00000170633.17	transcript	ENST00000361234.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF4_chr4_2464106_2520857	2484067	T T	TCCCCCCC others(20): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG06807.hp1 HG01167.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0210 a0001c0001t0002g0186 a0001c0001t0002g0210	2	28	0.0714	27	c.-15 others(46): Show c.-157-6262_-157-6261insCCCCCCCCCCCCCCCCCCCCCCCCCC C	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF4_chr4_2464106_2520857	2518496	T T	TTAGCACA others(20): Show TTAGCACAACAGGGTGACTACAGTCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	376	0.0027	27	c.46 others(38): Show c.4677_*4678insTAGCACAACAGGGTGACTACAGTCAAC	RNF4	ENSG00000063978.17	transcript	ENST00000314289.13	protein_coding		2640		chr4	TogoVar
RNFT2_chr12_116733315_116858631	116785275	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0124 a0001c0001t0019g0124	1	190	0.0053	27	c.882 others(44): Show c.882+5927_882+5928insTGTGTGTGTGTGTGTGTGTGTGTGTGT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RNFT2_chr12_116733315_116858631	116832148	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0040 a0001c0003t0021g0040	1	24	0.0417	27	c.883 others(44): Show c.883-1644_883-1643insTATATATATATATATATATATATATAT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647715	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	200	0.0050	27	c.150 others(48): Show c.1506+30637_1506+30638insCTTTTTTTTTTTTTTTTTTTTTTT TTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88647715	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAGAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp2 NA18906.hp2 HG02922.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0092 a0001c0001t0004g0170 a0001c0001t0004g0171	3	202	0.0149	27	c.150 others(48): Show c.1506+30637_1506+30638insCTTCTTTTTTCTTTTTTTTTTTTT TTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
ROBO2_chr3_77035099_77654964	77277156	C C	CCTTCTTT others(20): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	160	0.0063	27	c.388 others(48): Show c.388+178820_388+178846dupCTTTCTTTCTTTCTTTCTTTCTTT CTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410597	C C	CTCCTCCT others(20): Show CTCCTCCTGCTCTTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19077.hp2 NA18959.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0037 a0001c0001t0010g0144 a0001c0001t0010g0037 a0001c0001t0010g0144	2	160	0.0125	27	c.389 others(46): Show c.389-66810_389-66809insGCTCTTCCTCCTCCTCCTCTTCCTCC T	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar

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