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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RPH3AL_chr17_207389_357807	314422	C C	CATGCAGT others(23): Show CATGCAGTCTCTGTGCTCCACCTCCACTGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02622.hp2 others(4): Show HG02055.hp1 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG03540.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0011 others(1): Show a0001c0001 a0001c0003 a0002c0011 a0002c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0003t0018 a0002c0011t0001 a0002c0012t0005	a0001c0001t0001g0104 a0001c0001t0005g0132 a0001c0001t0017g0070 others(4): Show a0001c0001t0001g0104 a0001c0001t0005g0132 a0001c0001t0017g0070 a0001c0001t0017g0099 a0001c0003t0018g0019 a0002c0011t0001g0016 a0002c0012t0005g0020	7	131	0.0534	30	c.351 others(47): Show c.351+4997_351+4998insATCAGTGGAGGTGGAGCACAGAGACTGC AT		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	314804	T T	TCCACCTC others(23): Show TCCACCTCCATTGACCTGTAGTCCCTGTGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02572.hp2 others(2): Show HG01243.hp1 HG01884.hp2 HG02572.hp2 HG02622.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0003t0001	a0001c0001t0001g0119 a0001c0001t0002g0069 a0001c0001t0003g0083 others(2): Show a0001c0001t0001g0119 a0001c0001t0002g0069 a0001c0001t0003g0083 a0001c0001t0031g0067 a0001c0003t0001g0075	5	121	0.0413	30	c.351 others(47): Show c.351+4615_351+4616insGGCACAGGGACTACAGGTCAATGGAGGT GG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791860	G G	GAAGGGAG others(23): Show GAAGGGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0083 a0001c0001t0047g0083	1	262	0.0038	30	c.-29 others(39): Show c.-292_-291insAAGGGAGAGAGAGAGAGAGAGAGAGAGAGA		RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22				36458		chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01123.hp1 others(15): Show HG00323.hp1 HG00738.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01884.hp1 HG02717.hp1 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03669.hp1 HG06807.hp1 NA18939.hp2 NA19043.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005	a0001c0001t0010 a0001c0001t0033 a0001c0001t0128 others(12): Show a0001c0001t0010 a0001c0001t0033 a0001c0001t0128 a0001c0001t0129 a0001c0001t0131 a0001c0001t0134 a0001c0001t0203 a0001c0002t0010 a0001c0002t0031 a0001c0002t0032 a0001c0002t0130 a0001c0002t0132 a0001c0003t0127 a0002c0004t0133 a0003c0005t0010	a0001c0001t0010g0101 a0001c0001t0033g0064 a0001c0001t0033g0190 others(15): Show a0001c0001t0010g0101 a0001c0001t0033g0064 a0001c0001t0033g0190 a0001c0001t0128g0046 a0001c0001t0129g0009 a0001c0001t0131g0077 a0001c0001t0134g0053 a0001c0001t0203g0197 a0001c0002t0010g0111 a0001c0002t0031g0056 a0001c0002t0031g0178 a0001c0002t0032g0170 a0001c0002t0032g0189 a0001c0002t0130g0074 a0001c0002t0132g0179 a0001c0003t0127g0212 a0002c0004t0133g0255 a0003c0005t0010g0200	18	24	0.7500	30	c.-27 others(39): Show c.-276_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		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(23): Show ATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	30	c.-17 others(41): Show c.-1706_-1705insTATATATATATATATATATATATATATTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	30	c.-17 others(41): Show c.-1706_-1705insTATATATATATATATATATATATTTTTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	30	c.-17 others(41): Show c.-1706_-1705insTATATATATATATATATATATTTTTTTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	30	c.-17 others(41): Show c.-1706_-1705insTATATATATATATATATATTTTTTTTTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG03225.hp2 others(1): Show HG02258.hp1 HG03139.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0016 a0001c0001t0001g0041	4	21	0.1905	30	c.20 others(41): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding					1527		chr19	TogoVar
RPL13_chr16_89555682_89569542	89565283	G G	GTGGGCTG others(23): Show GTGGGCTGGGCTGGGCTGGGCTGGGCTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03491.hp2 HG03492.hp1 HG01884.hp2 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0002 a0001c0002t0002g0012	3	343	0.0087	30	c.22 others(41): Show c.2241_*2242insTGGGCTGGGCTGGGCTGGGCTGGGCTGGGC		RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding					742		chr16	TogoVar
RPL18_chr19_48610331_48624178	48616643	C C	CCAGCACA others(23): Show CCAGCACAGCACAGCACAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19011.hp2 NA19074.hp2 NA18972.hp1 NA19011.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	3	195	0.0154	30	c.297 others(43): Show c.297+53_297+82dupTGCTGTGCTGTGCTGTGCTGTGCTGTGCTG		RPL18	ENSG00000063177.13	transcript	ENST00000549920.6	protein_coding	4/6						chr19	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	55	0.0182	30	c.50 others(41): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding					2747		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	8	0.1250	30	c.192 others(47): Show c.192+1012_192+1041dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5						chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	62	0.0161	30	c.26 others(41): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding					2578		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	317	0.0032	30	c.44 others(41): Show c.4414_*4415insTATATATATATATATACACACACACACACA		RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding					4334		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02129.hp1 HG02818.hp2 others(6): Show HG01109.hp2 HG02129.hp1 HG02818.hp2 NA18612.hp2 NA18948.hp2 NA18962.hp2 NA18973.hp1 NA18983.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0020 a0001c0001t0001g0002 a0001c0001t0004g0020	9	158	0.0570	30	c.44 others(41): Show c.4408_*4409insTATATATATATATATATATATATATATATA		RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding					4328		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	150	0.0067	30	c.44 others(41): Show c.4408_*4409insTATATATATATATATATATATATATATACA		RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding					4328		chr8	TogoVar
RPL30_chr8_98036721_98050545	98050406	C C	CAGGCTAT others(23): Show CAGGCTATACCATATAGCCTAGGTGTGTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	446	0.0022	30	c.-49 others(41): Show c.-4932_-4931insACTACACACCTAGGCTATATGGTATAGCCT		RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding					4862		chr8	TogoVar
RPL5_chr1_92827040_92846924	92846860	T T	TATACACG others(23): Show TATACACGTATATATATATACATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	328	0.0030	30	c.49 others(41): Show c.4995_*4996insATACACGTATATATATATACATATATATAC		RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding					4937		chr1	TogoVar
RPN1_chr3_128614969_128655818	128635640	G G	GATATATA others(23): Show GATATATATATATATATATATATATATAGAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	323	0.0031	30	c.633 others(47): Show c.633+2158_633+2159insATCTATATATATATATATATATATATAT AT		RPN1	ENSG00000163902.12	transcript	ENST00000296255.8	protein_coding	3/9						chr3	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	235	0.0043	30	c.790 others(49): Show c.790-15272_790-15271insTATATATATATATATATATATATATA TATA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(23): Show GTGTGTATATGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	8	0.1250	30	c.790 others(49): Show c.790-15278_790-15277insTATATATATATATATACACACATATA CACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18997.hp1 NA18971.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0235 a0001c0001t0001g0157 a0001c0001t0001g0235	2	9	0.2222	30	c.790 others(49): Show c.790-15278_790-15277insTATATATATATATATATATATATACA CACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0143 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0143	3	10	0.3000	30	c.790 others(49): Show c.790-15278_790-15277insTATATATATATATATATATATACACA CACA		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD2_chr1_150359147_150481566	150388375	C C	CGTATATA others(23): Show CGTATATACACGTATACACATGTATATACGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01109.hp2 others(14): Show HG00735.hp2 HG00738.hp2 HG01109.hp2 HG01243.hp2 HG01358.hp1 HG01515.hp2 HG02015.hp2 HG02559.hp1 HG02683.hp1 HG02738.hp1 HG03491.hp1 NA18973.hp1 NA18982.hp1 NA18992.hp2 NA18994.hp2 NA19079.hp2 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0004c0006t0002 a0004c0006t0043 a0004c0006t0048	a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0284 others(14): Show a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0294 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0016g0282 a0001c0001t0016g0283 a0001c0001t0016g0288 a0001c0001t0016g0290 a0004c0006t0002g0274 a0004c0006t0002g0280 a0004c0006t0002g0281 a0004c0006t0002g0291 a0004c0006t0043g0278 a0004c0006t0048g0272	17	201	0.0846	30	c.205 others(49): Show c.205+23456_205+23457insGTATATACACGTATACACATGTATAT ACGT		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10						chr1	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	4	0.2500	30	c.-10 others(41): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding					1010		chr6	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG03225.hp2 others(1): Show HG02258.hp1 HG03139.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	4	22	0.1818	30	c.-26 others(41): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding					2599		chr19	TogoVar
RPS11_chr19_49491434_49504708	49503062	G G	GTCCAAGG others(23): Show GTCCAAGGTCACACACAGCTAGGGAGCTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	30	c.34 others(41): Show c.3427_*3428insTCCAAGGTCACACACAGCTAGGGAGCTACA		RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding					3355		chr19	TogoVar
RPS6KA1_chr1_26524761_26580025	26557777	T T	TCCTCCCC others(23): Show TCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	183	0.0055	30	c.108 others(47): Show c.1084+681_1084+710dupCCCCTCCCCTCCCCTCCCCTCCCCTCCC CT		RPS6KA1	ENSG00000117676.14	transcript	ENST00000374168.7	protein_coding	13/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KA1_chr1_26524761_26580025	26565543	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02886.hp1 others(3): Show HG02486.hp2 HG02647.hp1 HG02886.hp1 HG02976.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(3): Show a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0009g0032	6	189	0.0317	30	c.159 others(49): Show c.1590+3909_1590+3910insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT		RPS6KA1	ENSG00000117676.14	transcript	ENST00000374168.7	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KA2_chr6_166404364_166632251	166480479	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	21	0.0476	30	c.907 others(47): Show c.907+8324_907+8353dupTATATATATATATATATATATATATATA TA		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480514	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0015 a0001c0043t0015	a0001c0043t0015g0116 a0001c0043t0015g0116	1	202	0.0050	30	c.907 others(47): Show c.907+8318_907+8319insTTATATATATATATATATATATATATAT AT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18943.hp1 NA19087.hp1 HG02071.hp1 NA18943.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036	a0002c0002t0034g0021 a0002c0002t0035g0023 a0002c0002t0036g0020 a0002c0002t0034g0021 a0002c0002t0035g0023 a0002c0002t0036g0020	3	210	0.0143	30	c.501 others(47): Show c.501+4719_501+4720insATATATATATATATATATATATATATAT AT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21						chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01516.hp2 others(9): Show HG00099.hp1 HG00639.hp1 HG01516.hp2 HG02148.hp2 HG02602.hp1 NA18952.hp1 NA18966.hp2 NA18972.hp2 NA19030.hp2 NA19074.hp2 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0054 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0305 a0001c0001t0008g0052	12	108	0.1111	30	c.472 others(45): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213205536	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19006.hp2 NA19074.hp2 others(1): Show NA18940.hp1 NA19006.hp2 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0306 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0306 a0001c0001t0001g0314	4	139	0.0288	30	c.104 others(51): Show c.1045-24951_1045-24950insTATATATATATATATATATATATA TATATA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KL1_chr14_74898951_74928260	74919403	C C	CTGTGTGT others(23): Show CTGTGTGTGTGCACATACATGCACACAGATA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	368	0.0027	30	c.390 others(45): Show c.390+412_390+441dupTATCTGTGTGCATGTATGTGCACACACACA		RPS6KL1	ENSG00000198208.12	transcript	ENST00000557413.6	protein_coding	4/11						chr14	TogoVar
RPTOR_chr17_80539838_80971368	80685602	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0068 a0001c0003t0010g0068	1	180	0.0056	30	c.349 others(49): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATAT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0009 a0001c0061t0009	a0001c0061t0009g0040 a0001c0061t0009g0040	1	38	0.0263	30	c.349 others(49): Show c.349-22213_349-22212insATATATATATATATATATATATATTT TTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0064 a0001c0013t0013g0064	1	38	0.0263	30	c.349 others(49): Show c.349-22213_349-22212insATATATATATATATTTTTTTTTTTTT TTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80943718	T T	TTCAGGTG others(23): Show TTCAGGTGAGGACACGGTTAGTAAGAGCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(108): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18963.hp1 NA18963.hp2 NA18980.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(55): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0039 a0001c0041 a0001c0042 a0001c0044 a0001c0047 a0001c0049 a0001c0051 a0001c0052 a0001c0054 a0001c0057 a0001c0059 a0001c0064 a0001c0066 a0001c0067 a0001c0068 a0001c0070 a0001c0071 a0001c0075 a0001c0076 a0001c0077 a0001c0080 a0001c0083 a0001c0085 a0001c0087 a0001c0089 a0001c0093 a0001c0094 a0001c0095 a0001c0097 a0002c0062 a0003c0069 a0005c0092	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(95): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0039 a0001c0003t0013 a0001c0003t0014 a0001c0004t0001 a0001c0004t0014 a0001c0004t0035 a0001c0005t0074 a0001c0005t0075 a0001c0006t0013 a0001c0006t0076 a0001c0006t0082 a0001c0006t0087 a0001c0007t0030 a0001c0007t0069 a0001c0007t0084 a0001c0008t0036 a0001c0009t0001 a0001c0009t0012 a0001c0009t0028 a0001c0009t0078 a0001c0011t0047 a0001c0012t0003 a0001c0012t0018 a0001c0013t0013 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0015t0007 a0001c0015t0046 a0001c0017t0008 a0001c0017t0015 a0001c0018t0009 a0001c0018t0016 a0001c0018t0017 a0001c0021t0018 a0001c0021t0065 a0001c0021t0079 a0001c0023t0002 a0001c0023t0007 a0001c0023t0009 a0001c0024t0002 a0001c0024t0003 a0001c0024t0037 a0001c0025t0051 a0001c0025t0052 a0001c0027t0016 a0001c0027t0097 a0001c0028t0005 a0001c0028t0019 a0001c0029t0025 a0001c0030t0003 a0001c0032t0033 a0001c0032t0098 a0001c0033t0023 a0001c0033t0099 a0001c0039t0061 a0001c0041t0004 a0001c0042t0055 a0001c0044t0045 a0001c0047t0012 a0001c0049t0011 a0001c0051t0060 a0001c0052t0003 a0001c0054t0034 a0001c0057t0077 a0001c0059t0080 a0001c0064t0005 a0001c0066t0058 a0001c0067t0068 a0001c0068t0025 a0001c0070t0020 a0001c0071t0088 a0001c0075t0012 a0001c0076t0011 a0001c0077t0086 a0001c0080t0011 a0001c0083t0028 a0001c0085t0003 a0001c0087t0002 a0001c0089t0005 a0001c0093t0070 a0001c0094t0057 a0001c0095t0003 a0001c0097t0001 a0002c0062t0018 a0003c0069t0044 a0005c0092t0012	a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 others(108): Show a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0009g0030 a0001c0001t0015g0088 a0001c0001t0019g0049 a0001c0001t0019g0056 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0007g0136 a0001c0002t0010g0063 a0001c0002t0015g0089 a0001c0002t0017g0118 a0001c0002t0039g0091 a0001c0003t0013g0045 a0001c0003t0014g0105 a0001c0004t0001g0152 a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0004t0035g0004 a0001c0005t0074g0009 a0001c0005t0075g0008 a0001c0006t0013g0067 a0001c0006t0076g0183 a0001c0006t0082g0015 a0001c0006t0087g0013 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0069g0128 a0001c0007t0084g0007 a0001c0008t0036g0002 a0001c0009t0001g0125 a0001c0009t0012g0106 a0001c0009t0028g0113 a0001c0009t0078g0021 a0001c0011t0047g0079 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0012t0003g0192 a0001c0012t0018g0185 a0001c0013t0013g0061 a0001c0013t0013g0064 a0001c0013t0089g0046 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0002g0055 a0001c0014t0034g0071 a0001c0015t0007g0140 a0001c0015t0007g0146 a0001c0015t0046g0082 a0001c0017t0008g0031 a0001c0017t0008g0066 a0001c0017t0015g0085 a0001c0018t0009g0065 a0001c0018t0016g0120 a0001c0018t0017g0141 a0001c0021t0018g0014 a0001c0021t0065g0112 a0001c0021t0079g0006 a0001c0023t0002g0048 a0001c0023t0007g0132 a0001c0023t0009g0070 a0001c0024t0002g0047 a0001c0024t0003g0133 a0001c0024t0037g0095 a0001c0025t0051g0174 a0001c0025t0052g0181 a0001c0027t0016g0189 a0001c0027t0097g0059 a0001c0028t0005g0124 a0001c0028t0019g0024 a0001c0029t0025g0153 a0001c0030t0003g0116 a0001c0030t0003g0117 a0001c0032t0033g0039 a0001c0032t0098g0052 a0001c0033t0023g0078 a0001c0033t0099g0026 a0001c0039t0061g0177 a0001c0041t0004g0175 a0001c0042t0055g0179 a0001c0044t0045g0083 a0001c0047t0012g0150 a0001c0049t0011g0081 a0001c0051t0060g0115 a0001c0052t0003g0149 a0001c0054t0034g0054 a0001c0057t0077g0016 a0001c0059t0080g0005 a0001c0064t0005g0074 a0001c0066t0058g0126 a0001c0067t0068g0110 a0001c0068t0025g0107 a0001c0070t0020g0003 a0001c0071t0088g0035 a0001c0075t0012g0127 a0001c0076t0011g0087 a0001c0077t0086g0195 a0001c0080t0011g0080 a0001c0083t0028g0158 a0001c0085t0003g0162 a0001c0087t0002g0050 a0001c0089t0005g0159 a0001c0093t0070g0157 a0001c0094t0057g0137 a0001c0095t0003g0138 a0001c0097t0001g0155 a0002c0062t0018g0182 a0003c0069t0044g0102 a0005c0092t0012g0163	111	188	0.5904	30	c.302 others(49): Show c.3026-1858_3026-1829dupTCAGGTGAGGACACGGTTAGTAAGAG CCAG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	25/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD2_chr15_40564299_40579949	40569992	G G	GGTTTTGT others(23): Show GGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02922.hp2 HG03453.hp1 HG02155.hp2 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0024 a0001c0001t0001g0039	3	314	0.0096	30	c.606 others(43): Show c.606+74_606+75insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT		RPUSD2	ENSG00000166133.18	transcript	ENST00000315616.12	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr15	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02080.hp1 HG02293.hp2 others(8): Show HG01109.hp2 HG02080.hp1 HG02293.hp2 HG02886.hp1 NA18981.hp2 NA18985.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp1 NA19065.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0026 a0001c0001t0063	a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 others(8): Show a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0152 a0001c0001t0006g0101 a0001c0001t0018g0125 a0001c0001t0026g0099 a0001c0001t0063g0269	11	121	0.0909	30	c.445 others(47): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT AT		RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6						chr6	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03834.hp1 HG02630.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0044 a0001c0001t0010g0079 a0001c0001t0001g0044 a0001c0001t0010g0079	2	53	0.0377	30	c.408 others(47): Show c.408+1317_408+1346dupATATATATATATATATATATATATATAT AT		RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5						chr11	TogoVar
RRBP1_chr20_17608679_17687242	17613339	G G	GCAACAGC others(23): Show GCAACAGCCCGGGCATTCCCGGACCTCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0119 a0004c0013t0001g0119	1	136	0.0074	30	c.84 others(39): Show c.842_*843insTGTGGAGGTCCGGGAATGCCCGGGCTGTTG		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					339		chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659116	A A	ACCCTCGG others(23): Show ACCCTCGGCCTTCTTGCTCTGGTTCTGGGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp2 HG03098.hp2 NA19240.hp2 HG02486.hp2 HG03098.hp2 NA19240.hp2	a0030 a0050 a0030 a0050	a0030c0058 a0030c0059 a0050c0070 a0030c0058 a0030c0059 a0050c0070	a0030c0058t0006 a0030c0059t0006 a0050c0070t0002 a0030c0058t0006 a0030c0059t0006 a0050c0070t0002	a0030c0058t0006g0017 a0030c0059t0006g0018 a0050c0070t0002g0322 a0030c0058t0006g0017 a0030c0059t0006g0018 a0050c0070t0002g0322	3	348	0.0086	30	c.139 others(39): Show c.1391_1392insGGCCCAGAACCAGAGCAAGAAGGCCGAGGG	p.Gly others(43): Show p.Gly464_Ala465insAlaGlnAsnGlnSerLysLysAlaGluGly	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1704/5049	1391/4233	464/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659141	T T	TGGGCCCC others(23): Show TGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01993.hp2 HG01993.hp2	a0042 a0042	a0042c0102 a0042c0102	a0042c0102t0001 a0042c0102t0001	a0042c0102t0001g0101 a0042c0102t0001g0101	1	348	0.0029	30	c.136 others(39): Show c.1366_1367insCGAACCAGGGCAAGAAGGCCGAGGGGGCCC	p.Ala others(43): Show p.Ala455_Gln456insProAsnGlnGlyLysLysAlaGluGlyAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1679/5049	1366/4233	456/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17685254	A A	AGAAGGGG others(23): Show AGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0067 a0067	a0067c0115 a0067c0115	a0067c0115t0002 a0067c0115t0002	a0067c0115t0002g0053 a0067c0115t0002g0053	1	2	0.5000	30	c.-33 others(41): Show c.-3326_-3325insCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					3013		chr20	TogoVar
RREB1_chr6_7102961_7256980	7103367	T T	TAATATTA others(23): Show TAATATTATATGTTAATTAACATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0009 a0007c0005t0009	a0007c0005t0009g0148 a0007c0005t0009g0148	1	290	0.0034	30	c.-49 others(41): Show c.-4978_-4977insAATATTATATGTTAATTAACATATAATATA		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding					4593		chr6	TogoVar
RRM1_chr11_4089799_4143932	4130066	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01943.hp1 HG03831.hp2 HG01192.hp2 HG01943.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0279 a0001c0003t0002g0245 a0001c0003t0002g0265 a0001c0001t0001g0279 a0001c0003t0002g0245 a0001c0003t0002g0265	3	111	0.0270	30	c.176 others(47): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT AT		RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM2B_chr8_102199502_102243961	102215944	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18948.hp1 NA18943.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	264	0.0076	30	c.685 others(47): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8						chr8	TogoVar

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