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
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(33): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18942.hp1 NA19054.hp2 others(3): Show NA18939.hp1 NA18942.hp1 NA19054.hp2 NA19064.hp2 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0159 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0159 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0008g0123	6	51	0.1176	40	c.142 others(57): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11331017	A A	AAGGAGGG others(33): Show AAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	172	0.0058	40	c.141 others(59): Show c.141+12978_141+12979insCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCTCCCTCCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02886.hp1 HG03041.hp1 others(2): Show HG01070.hp2 HG02886.hp1 HG03041.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0009	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0007t0004 a0002c0009t0005	a0001c0001t0001g0058 a0001c0002t0001g0093 a0001c0005t0001g0055 others(2): Show a0001c0001t0001g0058 a0001c0002t0001g0093 a0001c0005t0001g0055 a0001c0007t0004g0027 a0002c0009t0005g0048	5	73	0.0685	40	c.163 others(57): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA TATATATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014773	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0064 a0002c0004t0003g0064	1	59	0.0169	40	c.163 others(57): Show c.163+5398_163+5399insTATATATATATATATATATATATATATA TATATACACACA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91836539	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0222 a0006c0011t0001g0222	1	150	0.0067	40	c.98- others(57): Show c.98-60722_98-60721insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60515957	T T	TTATATAT others(33): Show TTATATATATTTATATATTTATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01169.hp2 others(10): Show HG01109.hp1 HG01123.hp1 HG01169.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02738.hp1 HG02897.hp2 HG03195.hp1 HG03486.hp1 HG03654.hp1 HG03654.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039	a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0092 others(10): Show a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0008g0033 a0001c0001t0011g0021 a0001c0001t0017g0014 a0001c0001t0017g0098 a0001c0001t0030g0076 a0001c0001t0035g0101 a0001c0001t0036g0102 a0001c0001t0037g0105 a0001c0001t0039g0009	13	75	0.1733	40	c.283 others(57): Show c.283-1201_283-1200insTAAATATATATAAATATATATAAATATA TAAATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60517463	T T	TTTTTATT others(33): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0039 a0001c0003t0027g0039	1	106	0.0094	40	c.283 others(57): Show c.283-2707_283-2706insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02717.hp1 others(2): Show HG01884.hp2 HG02572.hp1 HG02717.hp1 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0013 a0001c0001t0020 a0001c0001t0045 others(1): Show a0001c0001t0013 a0001c0001t0020 a0001c0001t0045 a0001c0005t0004	a0001c0001t0013g0085 a0001c0001t0020g0108 a0001c0001t0045g0004 others(2): Show a0001c0001t0013g0085 a0001c0001t0020g0108 a0001c0001t0045g0004 a0001c0005t0004g0024 a0001c0005t0004g0082	5	11	0.4545	40	c.166 others(61): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RP2_chrX_46832043_46887358	46847745	T T	TGTGTGTG others(33): Show TGTGTGTGTATATACACACATATGTGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	271	0.0037	40	c.103 others(57): Show c.103-5723_103-5722insATATACACACATATGTGTGTGTATATAC ACACGTGTGTGT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPEL1_chr10_103240887_103253016	103248539	C C	CTGACCTG others(33): Show CTGACCTGTATTAAAACCCAGCTCATTTGTTTTTAGAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	374	0.0027	40	c.18 others(51): Show c.1856_*1857insTGACCTGTATTAAAACCCAGCTCATTTGTTTTTA GAACTT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		524		chr10	TogoVar
RPF2_chr6_110977038_111033263	110994727	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0258 a0002c0002t0010g0258	1	196	0.0051	40	c.235 others(57): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATATATATATA	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(33): Show TATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0324 a0001c0001t0007g0324	1	213	0.0047	40	c.235 others(57): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATACACACACA	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(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03540.hp2 NA19240.hp1 HG02559.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0326 a0001c0001t0007g0020 a0001c0001t0007g0326	3	215	0.0140	40	c.235 others(57): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATATACACACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPGRIP1_chr14_21275083_21356301	21304416	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	329	0.0030	40	c.800 others(55): Show c.800+903_800+904insGAAAGAAAGGAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(33): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG01169.hp2 HG01192.hp1 others(12): Show HG00438.hp1 HG01169.hp2 HG01192.hp1 HG01496.hp1 HG01515.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02559.hp2 HG02896.hp1 HG02897.hp1 NA18612.hp1 NA18992.hp2 NA19085.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0008c0017	a0001c0001t0041 a0001c0001t0166 a0001c0001t0167 others(8): Show a0001c0001t0041 a0001c0001t0166 a0001c0001t0167 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0002t0011 a0001c0003t0040 a0001c0006t0168 a0008c0017t0165	a0001c0001t0041g0172 a0001c0001t0041g0194 a0001c0001t0166g0025 others(12): Show a0001c0001t0041g0172 a0001c0001t0041g0194 a0001c0001t0166g0025 a0001c0001t0167g0051 a0001c0001t0169g0106 a0001c0001t0170g0152 a0001c0001t0171g0157 a0001c0001t0172g0021 a0001c0002t0011g0112 a0001c0002t0011g0156 a0001c0002t0011g0183 a0001c0003t0040g0086 a0001c0003t0040g0087 a0001c0006t0168g0254 a0008c0017t0165g0030	15	21	0.7143	40	c.-24 others(49): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	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(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	155	0.0065	40	c.-17 others(51): Show c.-1706_-1705insTATATATATATATATATATATATATATATATTTT TTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	40	c.-17 others(51): Show c.-1706_-1705insTATATATATATATATATATATATATATATTTTTT TTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	40	c.-17 others(51): Show c.-1706_-1705insTATATATATATATATATATATATATATTTTTTTT TTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(33): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	155	0.0065	40	c.-17 others(51): Show c.-1706_-1705insTATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL18_chr19_48610331_48624178	48616643	C C	CCAGCACA others(33): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	193	0.0052	40	c.297 others(53): Show c.297+82_297+83insTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTG CTGTGCTG	RPL18	ENSG00000063177.13	transcript	ENST00000549920.6	protein_coding	4/6			chr19	TogoVar
RPL22_chr1_6180020_6204595	6189167	G G	GCTCCACA others(33): Show GCTCCACACCAACAAAGCAATCTCCACACCAACAAAGCAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02896.hp2 others(3): Show HG02559.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0154 a0001c0001t0001g0189 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0154 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191	6	300	0.0200	40	c.243 others(57): Show c.243-2391_243-2352dupATTGCTTTGTTGGTGTGGAGATTGCTTT GTTGGTGTGGAG	RPL22	ENSG00000116251.11	transcript	ENST00000234875.9	protein_coding	3/3			chr1	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(33): Show GTCTGTCTGTCTGTCTATCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	40	c.72 others(51): Show c.7260_*7261insTAGATAGATAGATAGATAGATAGATAGACAGACA GACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(33): Show GTCTGTCTGTCTGTCTGTCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	254	0.0039	40	c.72 others(51): Show c.7260_*7261insTAGATAGATAGATAGATAGATAGACAGACAGACA GACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL26L1_chr5_172954424_172974771	172958838	T T	TGAGAGGG others(33): Show TGAGAGGGGCGGGGTCTAGGAGAGAGGGGCGGGGTCTAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA19007.hp1 NA18965.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0003 a0001c0001t0001g0015	2	168	0.0119	40	c.-64 others(49): Show c.-640_-639insGAGAGGGGCGGGGTCTAGGAGAGAGGGGCGGGGTCT AGGA	RPL26L1	ENSG00000037241.7	transcript	ENST00000265100.6	protein_coding		585		chr5	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	317	0.0032	40	c.44 others(51): Show c.4414_*4415insTATATATATATATATATATATATATATACACACA CACACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4334		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18963.hp2 NA18747.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	151	0.0132	40	c.44 others(51): Show c.4408_*4409insTATATATATATATATATATATATATATATATATA TATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(33): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0071 a0001c0001t0018g0071	1	370	0.0027	40	c.-45 others(51): Show c.-4522_-4521insAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA19059.hp1 NA18984.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0001 a0001c0001t0008g0019 a0001c0001t0003g0001 a0001c0001t0008g0019	2	371	0.0054	40	c.-45 others(51): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	371	0.0054	40	c.-45 others(51): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAG AAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	235	0.0043	40	c.790 others(59): Show c.790-15272_790-15271insTATATATATATATATATATATATATA TATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008573	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	218	0.0046	40	c.790 others(59): Show c.790-15274_790-15273insTATATATATATATATATATATATATA TATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008575	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	208	0.0048	40	c.790 others(59): Show c.790-15276_790-15275insTATATATATATATATATATATATATA TATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(33): Show GTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02735.hp2 HG03579.hp1 others(2): Show HG02717.hp2 HG02735.hp2 HG03579.hp1 NA18943.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0080 a0001c0001t0001g0191 a0001c0001t0001g0220 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0191 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0004g0221	5	12	0.4167	40	c.790 others(59): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(33): Show GTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp2 HG00642.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0100 a0001c0001t0018g0124 a0001c0001t0001g0100 a0001c0001t0018g0124	2	9	0.2222	40	c.790 others(59): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008589	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0270 a0001c0001t0003g0272	2	192	0.0104	40	c.790 others(59): Show c.790-15290_790-15289insGATATATATATATATATATATATATA TATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPS2_chr16_1957058_1969826	1962059	A A	AACACGCT others(33): Show AACACGCTTAATTCACTTTATTTTTCTTGTATAAAAACCCT	splice_region_variant splice_region_variant	LOW	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0022 a0001c0003t0002g0022	1	436	0.0023	40	c.881 others(47): Show c.881_*38dupAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGT GT	RPS2	ENSG00000140988.16	transcript	ENST00000343262.9	protein_coding	7/7			chr16	TogoVar
RPS6KA6_chrX_84053350_84193199	84191617	T T	TATATATA others(33): Show TATATATATATCCATATATATATATCCATATATATATATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA19058.hp1 NA19079.hp1 NA18944.hp1 NA19058.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0199 a0001c0001t0010g0200 a0001c0001t0010g0201 a0001c0001t0010g0199 a0001c0001t0010g0200 a0001c0001t0010g0201	3	269	0.0112	40	c.-37 others(51): Show c.-3758_-3719dupGGATATATATATATGGATATATATATATGGATAT ATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3419		chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18968.hp1 NA19006.hp2 HG03669.hp1 NA18968.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0297 a0001c0001t0001g0314 a0001c0001t0001g0082 a0001c0001t0001g0297 a0001c0001t0001g0314	3	99	0.0303	40	c.472 others(55): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS7_chr2_3570260_3585920	3585482	A A	AGATCTCA others(33): Show AGATCTCATGCCTCTGCTCCGGATCTCATGCCTGTGCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	407	0.0049	40	c.46 others(51): Show c.4600_*4601insGATCTCATGCCTCTGCTCCGGATCTCATGCCTGT GCTCCG	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		4563		chr2	TogoVar
RPSA2_chr19_23758004_23833868	23761902	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0240 a0001c0001t0047g0240	1	358	0.0028	40	c.-15 others(51): Show c.-1535_-1534insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCGCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1101		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CCCTTTCC others(33): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	90	0.0111	40	c.348 others(59): Show c.348+21654_348+21693dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTCTT others(33): Show CTTTTCTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0024 a0001c0046t0024	a0001c0046t0024g0164 a0001c0046t0024g0164	1	90	0.0111	40	c.348 others(59): Show c.348+21521_348+21522insTTTTCTTTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTTCC others(33): Show CTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0001 a0001	a0001c0031 a0001c0053 a0001c0031 a0001c0053	a0001c0031t0027 a0001c0053t0006 a0001c0031t0027 a0001c0053t0006	a0001c0031t0027g0173 a0001c0053t0006g0122 a0001c0031t0027g0173 a0001c0053t0006g0122	2	91	0.0220	40	c.348 others(59): Show c.348+21521_348+21522insTTTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0033 a0001c0014t0002g0033	1	38	0.0263	40	c.349 others(59): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATTTTTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18965.hp2 NA18979.hp1 HG02056.hp1 NA18965.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0141 a0001c0001t0002g0110 a0001c0001t0002g0116 a0001c0001t0002g0141	3	113	0.0265	40	c.445 others(57): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATATATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RREB1_chr6_7102961_7256980	7103325	C C	CATATAAC others(33): Show CATATAACATATAATATATAATATTATATATAATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0014 a0014	a0014c0066 a0014c0066	a0014c0066t0003 a0014c0066t0003	a0014c0066t0003g0276 a0014c0066t0003g0276	1	290	0.0034	40	c.-50 others(51): Show c.-5020_-5019insATATAACATATAATATATAATATTATATATAATA TAATAT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4635		chr6	TogoVar
RRM1_chr11_4089799_4143932	4130086	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	324	0.0031	40	c.176 others(57): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT ATATATATATTT	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(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	263	0.0038	40	c.685 others(57): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8			chr8	TogoVar
RSPRY1_chr16_57181329_57245469	57201103	C C	CGCTCCTC others(33): Show CGCTCCTCACTTCCCAGGCGGAGTGGCTGCCGGGCGGAGGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	355	0.0028	40	c.-15 others(59): Show c.-155-3388_-155-3349dupCCAGGCGGAGTGGCTGCCGGGCGGAG GGGCTCCTCACTTC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSPRY1_chr16_57181329_57245469	57201137	C C	CGGAGGGG others(33): Show CGGAGGGGCTCCTCACTTCTCAGACGGTGTGGCTGCCAGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00621.hp1 others(56): Show HG00280.hp1 HG00558.hp1 HG00621.hp1 HG01070.hp2 HG01255.hp1 HG01515.hp1 HG02015.hp1 HG02145.hp2 HG02165.hp1 HG02523.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19057.hp2 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0011 others(50): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0153 a0001c0001t0006g0135 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0013g0011 a0001c0001t0013g0306 a0001c0001t0014g0003 a0001c0001t0014g0012 a0001c0001t0016g0137 a0001c0001t0021g0152 a0001c0001t0024g0012	59	356	0.1657	40	c.-15 others(59): Show c.-155-3330_-155-3291dupAGGTGGAGGGGCTCCTCACTTCTCAG ACGGTGTGGCTGCC	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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