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	11238209	A A	AGTGTGTG others(27): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp2 HG02451.hp2 HG01261.hp2 HG02055.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0242 a0001c0001t0004g0248 a0001c0001t0007g0147 a0001c0001t0004g0242 a0001c0001t0004g0248 a0001c0001t0007g0147	3	40	0.0750	34	c.463 others(51): Show c.463-2248_463-2247insACACACACACACACACACACACACACAC ACACAC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(27): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp2 HG02155.hp2 others(4): Show HG00140.hp2 HG01081.hp2 HG02155.hp2 HG03688.hp2 NA18990.hp1 NA19004.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0022 a0001c0001t0059	a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 others(4): Show a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0189 a0001c0001t0016g0175 a0001c0001t0022g0191 a0001c0001t0059g0214	7	52	0.1346	34	c.142 others(51): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCCCCC TCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGGG others(27): Show GGGGAGGGGGGGGGGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	46	0.0217	34	c.142 others(51): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCCCCCCCCC CCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0253 a0001c0001t0009g0254 a0001c0001t0009g0253 a0001c0001t0009g0254	2	67	0.0299	34	c.141 others(53): Show c.141+26383_141+26384insAAAAAAAATATATATATATATATATA TATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROGDI_chr16_4791968_4807633	4804933	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 NA19030.hp2 HG01257.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0003g0006 a0001c0001t0001g0020 a0001c0001t0003g0006	2	163	0.0123	34	c.-23 others(45): Show c.-2396_-2363dupCACACACACACACACACACACACACACACACACA	ROGDI	ENSG00000067836.13	transcript	ENST00000322048.12	protein_coding		2301		chr16	TogoVar
ROPN1L_chr5_10436879_10470026	10458847	C C	CCCATCCC others(27): Show CCCATCCCCCCGTGTACACCATCCCCCCGTGTACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	364	0.0027	34	c.418 others(51): Show c.418-2328_418-2295dupCCGTGTACACCATCCCCCCGTGTACACC ATCCCC	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROR1_chr1_63769017_64186498	64014740	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	36	0.0278	34	c.163 others(51): Show c.163+5365_163+5398dupTATATATATATATATATATATATATATA TATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91839275	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTAAGTACAGGC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	167	0.0060	34	c.98- others(51): Show c.98-63458_98-63457insGCCTGTACTTACACACACACACACACAC ACACAC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91845877	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	51	0.0196	34	c.98- others(51): Show c.98-70060_98-70059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91937029	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0152 a0001c0014t0006g0152	1	62	0.0161	34	c.97+ others(51): Show c.97+12837_97+12838insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60671067	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0094 a0001c0001t0053g0094	1	35	0.0286	34	c.196 others(51): Show c.196+7589_196+7590insATATATATATATATATATATATATATAT ATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053847	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0116 a0001c0001t0031g0116	1	118	0.0085	34	c.166 others(55): Show c.166+175205_166+175206insTATATATATATATATATATATATA TATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01884.hp1 others(4): Show HG01168.hp2 HG01169.hp1 HG01884.hp1 HG02004.hp1 HG02738.hp1 HG03654.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0033	a0001c0001t0001g0053 a0001c0001t0001g0109 a0001c0001t0002g0060 others(4): Show a0001c0001t0001g0053 a0001c0001t0001g0109 a0001c0001t0002g0060 a0001c0001t0006g0029 a0001c0001t0007g0057 a0001c0001t0013g0067 a0001c0001t0033g0041	7	13	0.5385	34	c.166 others(55): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02145.hp1 HG02647.hp1 others(3): Show HG01192.hp2 HG02145.hp1 HG02647.hp1 HG02738.hp2 HG02818.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0032 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0032 a0001c0001t0038	a0001c0001t0002g0093 a0001c0001t0002g0131 a0001c0001t0002g0132 others(3): Show a0001c0001t0002g0093 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0003g0092 a0001c0001t0032g0095 a0001c0001t0038g0094	6	56	0.1071	34	c.399 others(51): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	242266	T T	TTACCTTC others(27): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03831.hp1 NA20905.hp1 HG00323.hp1 HG03831.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0001 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0030 a0001c0001t0009g0066 a0001c0001t0014g0025 a0001c0001t0001g0030 a0001c0001t0009g0066 a0001c0001t0014g0025	3	111	0.0270	34	c.613 others(51): Show c.613+4844_613+4845insGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242300	T T	TTACCTTC others(27): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02080.hp2 others(3): Show HG01243.hp1 HG01243.hp2 HG02080.hp2 HG02622.hp1 HG02886.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0022 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0022 a0001c0001t0031 a0001c0002t0029 a0001c0003t0001	a0001c0001t0002g0078 a0001c0001t0010g0131 a0001c0001t0022g0071 others(3): Show a0001c0001t0002g0078 a0001c0001t0010g0131 a0001c0001t0022g0071 a0001c0001t0031g0067 a0001c0002t0029g0103 a0001c0003t0001g0075	6	79	0.0759	34	c.613 others(51): Show c.613+4777_613+4810dupGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243036	A A	ATACCTTC others(27): Show ATACCTTCCTCTATTGACTACCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01167.hp2 others(18): Show HG00408.hp2 HG00544.hp2 HG01167.hp2 HG01255.hp1 HG01884.hp1 HG02055.hp2 HG02074.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02559.hp2 HG02976.hp1 NA18522.hp1 NA18959.hp1 NA18963.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19005.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0032 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0026 a0001c0008t0001 a0001c0015t0007 a0005c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0079 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0079 a0001c0001t0001g0128 a0001c0001t0002g0029 a0001c0001t0005g0017 a0001c0001t0006g0105 a0001c0001t0009g0094 a0001c0001t0013g0055 a0001c0001t0014g0025 a0001c0001t0032g0004 a0001c0001t0034g0018 a0001c0002t0001g0123 a0001c0002t0003g0090 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0004t0001g0050 a0001c0004t0026g0013 a0001c0008t0001g0044 a0001c0015t0007g0026 a0005c0009t0001g0054	21	78	0.2692	34	c.613 others(51): Show c.613+4074_613+4075insATCAATAGAGGAAGGTAGTCAATAGAGG AAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243650	C C	CCCTTCCT others(27): Show CCCTTCCTCTATTGACTACCTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	62	0.0161	34	c.613 others(51): Show c.613+3427_613+3460dupTAGTCAATAGAGGAAGGTAGTCAATAGA GGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01169.hp1 HG01243.hp2 others(10): Show HG00642.hp1 HG01169.hp1 HG01243.hp2 HG01943.hp2 HG02809.hp2 HG02976.hp1 NA18906.hp2 NA18978.hp2 NA18990.hp1 NA19030.hp1 NA19030.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0036 a0001c0001t0038 a0001c0001t0144 others(8): Show a0001c0001t0036 a0001c0001t0038 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0002t0036 a0001c0002t0143 a0001c0003t0037	a0001c0001t0036g0132 a0001c0001t0038g0016 a0001c0001t0038g0123 others(10): Show a0001c0001t0036g0132 a0001c0001t0038g0016 a0001c0001t0038g0123 a0001c0001t0144g0024 a0001c0001t0145g0026 a0001c0001t0146g0103 a0001c0001t0147g0133 a0001c0001t0148g0054 a0001c0001t0149g0130 a0001c0002t0036g0184 a0001c0002t0143g0022 a0001c0003t0037g0095 a0001c0003t0037g0096	13	19	0.6842	34	c.-28 others(43): Show c.-280_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0194 a0001c0001t0194	a0001c0001t0194g0094 a0001c0001t0194g0094	1	7	0.1429	34	c.-25 others(43): Show c.-256_-255insGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36422	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877403	T T	TACACACA others(27): Show TACACACACACACGTATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp2 HG02717.hp1 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0125 a0002c0004t0133 a0002c0004t0125 a0002c0004t0133	a0002c0004t0125g0081 a0002c0004t0133g0255 a0002c0004t0125g0081 a0002c0004t0133g0255	2	260	0.0077	34	c.117 others(51): Show c.1171+550_1171+583dupGTATACACACACACACACACACACACAC ACACAC	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396693	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	1	245	0.0041	34	c.-17 others(45): Show c.-1725_-1724insATATATATATATATATATATATATATATATATAT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1683		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	155	0.0065	34	c.-17 others(45): Show c.-1706_-1705insTATATATATATATATATATATATATATATTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	155	0.0065	34	c.-17 others(45): Show c.-1706_-1705insTATATATATATATATATATATATATTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	34	c.-17 others(45): Show c.-1706_-1705insTATATATATATATATATATATATTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp2 NA19077.hp1 HG03942.hp1 HG03942.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	3	64	0.0469	34	c.26 others(45): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	317	0.0032	34	c.44 others(45): Show c.4414_*4415insTATATATATATATATATATATACACACACACACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4334		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02027.hp2 NA18971.hp1 others(1): Show HG00597.hp1 HG02027.hp2 NA18971.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	153	0.0261	34	c.44 others(45): Show c.4408_*4409insTATATATATATATATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL7_chr8_73285242_73298633	73297571	C C	CCCCCACA others(27): Show CCCCCACAACCACCACCCCCGCCCAACACCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	446	0.0022	34	c.-39 others(45): Show c.-3960_-3959insTGGGGGGTGTTGGGCGGGGGTGGTGGTTGTGGGG	RPL7	ENSG00000147604.14	transcript	ENST00000352983.7	protein_coding		3939		chr8	TogoVar
RPRD1A_chr18_35984824_36072559	36008568	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0300 a0001c0002t0013g0300	1	308	0.0032	34	c.790 others(53): Show c.790-15269_790-15268insATATATATATATATATATATATATAT ATATATAT	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	235	0.0043	34	c.790 others(53): Show c.790-15272_790-15271insTATATATATATATATATATATATATA TATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01496.hp1 HG01070.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0211 a0001c0001t0001g0099 a0001c0001t0001g0211	2	9	0.2222	34	c.790 others(53): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02559.hp2 HG02976.hp2 others(1): Show HG02027.hp2 HG02559.hp2 HG02976.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0163 a0001c0001t0001g0187 a0001c0001t0005g0290 others(1): Show a0001c0001t0001g0163 a0001c0001t0001g0187 a0001c0001t0005g0290 a0001c0001t0005g0292	4	11	0.3636	34	c.790 others(53): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01361.hp2 HG01943.hp1 others(2): Show HG01257.hp1 HG01361.hp2 HG01943.hp1 HG02148.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0145	5	12	0.4167	34	c.790 others(53): Show c.790-15278_790-15277insTATATATATATATATATATATATATA CACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	4	0.2500	34	c.-10 others(45): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		1010		chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	91062558	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0171	a0001c0001t0171g0107 a0001c0001t0171g0107	1	263	0.0038	34	c.-21 others(45): Show c.-2125_-2124insATATATATATATATATATATATATATATATATTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1918		chr14	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18990.hp1 NA19085.hp1 NA18939.hp2 NA18990.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0023 a0002c0002t0020 a0002c0002t0023	a0002c0002t0020g0017 a0002c0002t0020g0018 a0002c0002t0023g0030 a0002c0002t0020g0017 a0002c0002t0020g0018 a0002c0002t0023g0030	3	210	0.0143	34	c.501 others(51): Show c.501+4719_501+4720insATATATATATATATATATATATATATAT ATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21			chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18959.hp2 HG03209.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0039 a0001c0001t0001g0041	2	98	0.0204	34	c.472 others(49): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS7_chr2_3570260_3585920	3585726	C C	CGGGGGAG others(27): Show CGGGGGAGGGGGGAGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	34	c.48 others(45): Show c.4844_*4845insGGGGGAGGGGGGAGGGGGGGGGGGGGGGGGGGGG	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		4807		chr2	TogoVar
RPTOR_chr17_80539838_80971368	80665523	C C	CCTTTCCT others(27): Show CCTTTCCTGTCCTTTCCTTTCATGTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0082 a0001c0006t0082	a0001c0006t0082g0015 a0001c0006t0082g0015	1	99	0.0101	34	c.348 others(53): Show c.348+21714_348+21715insTTTCCTGTCCTTTCCTTTCATGTCCT TTCCTTTC	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(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0002 a0001c0023t0002	a0001c0023t0002g0048 a0001c0023t0002g0048	1	38	0.0263	34	c.349 others(53): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATATATTT	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(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19011.hp1 HG00741.hp2 NA19011.hp1	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0033 a0001c0017t0008 a0001c0004t0033 a0001c0017t0008	a0001c0004t0033g0023 a0001c0017t0008g0066 a0001c0004t0033g0023 a0001c0017t0008g0066	2	39	0.0513	34	c.349 others(53): Show c.349-22213_349-22212insATATATATATATATATATATATATAT ATTTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743991	A A	ACTAGCAC others(27): Show ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0006 a0001c0053t0006	a0001c0053t0006g0122 a0001c0053t0006g0122	1	194	0.0052	34	c.655 others(53): Show c.655-10019_655-10018insCTAGCACAGCCCTGGTTACTAGCACT GTCCTGGT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33			chr17	TogoVar
RRAGC_chr1_38833198_38864772	38833389	A A	AGCCTGCC others(27): Show AGCCTGCCTGCCTTTCTCAATTGTCCCGTTCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	416	0.0024	34	c.61 others(45): Show c.6163_*6164insATGGGAACGGGACAATTGAGAAAGGCAGGCAGGC	RRAGC	ENSG00000116954.8	transcript	ENST00000373001.4	protein_coding		4808		chr1	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18964.hp1 NA19076.hp1 HG02132.hp1 NA18964.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0033g0030 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0033g0030	3	113	0.0265	34	c.445 others(51): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	52	0.0192	34	c.408 others(51): Show c.408+1313_408+1346dupATATATATATATATATATATATATATAT ATATAT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5			chr11	TogoVar
RRM1_chr11_4089799_4143932	4130066	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA20300.hp1 NA18992.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0280 a0001c0003t0002g0277 a0001c0001t0001g0280 a0001c0003t0002g0277	2	110	0.0182	34	c.176 others(51): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT ATATAT	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRP7A_chr22_42503344_42524796	42509848	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02293.hp2 others(3): Show HG01516.hp1 HG01517.hp1 HG02293.hp2 NA18612.hp1 NA18959.hp2 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0017 a0003c0004t0044 a0003c0004t0128 a0002c0001t0017 a0003c0004t0044 a0003c0004t0128	a0002c0001t0017g0015 a0003c0004t0044g0046 a0003c0004t0128g0223 a0002c0001t0017g0015 a0003c0004t0044g0046 a0003c0004t0128g0223	6	356	0.0169	34	c.30 others(45): Show c.3061_*3062insACACACACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3061		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG03041.hp1 HG02895.hp2 HG03041.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0024 a0004c0005t0024	a0004c0005t0024g0048 a0004c0005t0024g0048	2	130	0.0154	34	c.30 others(45): Show c.3059_*3060insACACACACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00673.hp2 others(18): Show HG00544.hp2 HG00597.hp1 HG00673.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01975.hp1 HG02027.hp1 HG02280.hp2 HG02602.hp1 HG02738.hp1 HG03704.hp1 HG04228.hp1 NA18747.hp1 NA18957.hp2 NA18970.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0128 a0001c0001t0001g0176 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0128 a0001c0001t0001g0176 a0001c0001t0001g0239 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0298 a0001c0002t0001g0002 a0001c0002t0001g0024 a0001c0002t0001g0082 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0131 a0001c0002t0001g0146 a0002c0003t0001g0115 a0002c0003t0001g0122 a0002c0003t0001g0127	21	32	0.6563	34	c.421 others(51): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar

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