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	11248717	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	318	0.0031	28	c.462 others(43): Show c.462+943_462+944insCTTTTTTTTTTTTTTTTTTTTTTTTTTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(21): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp1 HG02165.hp2 others(5): Show HG00438.hp1 HG01255.hp1 HG02165.hp2 HG03453.hp1 NA19057.hp2 NA19074.hp1 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0029 a0001c0001t0030	a0001c0001t0001g0130 a0001c0001t0001g0163 a0001c0001t0001g0169 others(5): Show a0001c0001t0001g0130 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0195 a0001c0001t0008g0197 a0001c0001t0029g0003 a0001c0001t0030g0004	8	53	0.1509	28	c.142 others(45): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCCCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(21): Show GGGGAGAGGGGGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01358.hp1 HG02698.hp2 HG01123.hp1 HG01358.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0054 a0001c0001t0004 a0001c0001t0054	a0001c0001t0004g0137 a0001c0001t0004g0141 a0001c0001t0054g0142 a0001c0001t0004g0137 a0001c0001t0004g0141 a0001c0001t0054g0142	3	48	0.0625	28	c.142 others(45): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCCCCCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19054.hp1 HG00597.hp1 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0014 a0001c0001t0023 a0002c0002t0014	a0001c0001t0023g0155 a0002c0002t0014g0064 a0001c0001t0023g0155 a0002c0002t0014g0064	2	67	0.0299	28	c.141 others(47): Show c.141+26383_141+26384insAAAAAAAAAAAATATATATATATATA TA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROGDI_chr16_4791968_4807633	4804933	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	162	0.0062	28	c.-23 others(39): Show c.-2390_-2363dupCACACACACACACACACACACACACACA	ROGDI	ENSG00000067836.13	transcript	ENST00000322048.12	protein_coding		2301		chr16	TogoVar
ROPN1L_chr5_10436879_10470026	10455782	T T	TAGAGGCT others(21): Show TAGAGGCTTTTAAAAACCAGTGCTGGGTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02055.hp1 HG02451.hp2 others(8): Show HG01074.hp2 HG02055.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0007 a0001c0001t0001g0131 a0001c0001t0001g0133 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0004g0262	11	188	0.0585	28	c.418 others(45): Show c.418-5379_418-5378insGGGTCAGAGGCTTTTAAAAACCAGTGCT	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROPN1L_chr5_10436879_10470026	10455834	G G	GGGTCAGA others(21): Show GGGTCAGAGGCTTTTAAAAACCAGTGCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02735.hp1 HG03669.hp1 others(2): Show HG00140.hp1 HG02735.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108	5	371	0.0135	28	c.418 others(45): Show c.418-5323_418-5322insCGGTCAGAGGCTTTTAAAAACCAGTGCT	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
ROR1_chr1_63769017_64186498	63787476	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTGCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0075 a0001c0002t0015g0075	1	65	0.0154	28	c.91+ others(45): Show c.91+12975_91+12976insTCCTGCCTTCCTGCCTTCCTGCCTTCCT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	63787476	T T	TCCTTCCT others(21): Show TCCTTCCTTCCTTCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp1 HG03471.hp2 others(1): Show HG02723.hp1 HG02886.hp1 HG03471.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0009 a0001c0002 a0001c0007 a0002c0009	a0001c0002t0005 a0001c0007t0011 a0002c0009t0005 a0001c0002t0005 a0001c0007t0011 a0002c0009t0005	a0001c0002t0005g0046 a0001c0002t0005g0051 a0001c0007t0011g0045 others(1): Show a0001c0002t0005g0046 a0001c0002t0005g0051 a0001c0007t0011g0045 a0002c0009t0005g0048	4	68	0.0588	28	c.91+ others(45): Show c.91+12975_91+12976insTCCTTCCTTCCTGCCTTCCTGCCTTCCT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0044 a0001c0005t0007g0044	1	69	0.0145	28	c.163 others(45): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014721	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0094 a0001c0007t0004g0094	1	64	0.0156	28	c.163 others(45): Show c.163+5351_163+5352insTATATATATATATATATATATGTATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014740	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0061 a0001c0006t0001g0061	1	36	0.0278	28	c.163 others(45): Show c.163+5371_163+5398dupTATATATATATATATATATATATATATA	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(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	59	0.0169	28	c.163 others(45): Show c.163+5398_163+5399insTATATATATATATATATATATATACACA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64053965	A A	ATTTTATT others(21): Show ATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp2 HG03098.hp1 others(1): Show HG02451.hp2 HG02896.hp2 HG03098.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0003t0002 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0008t0001 a0001c0010t0010	a0001c0001t0001g0060 a0001c0003t0002g0069 a0001c0008t0001g0070 others(1): Show a0001c0001t0001g0060 a0001c0003t0002g0069 a0001c0008t0001g0070 a0001c0010t0010g0088	4	90	0.0444	28	c.482 others(45): Show c.482+3253_482+3254insATTTTATTTTATTTTATTTTATTTTTTT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91836539	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0155 a0001c0005t0003g0155	1	150	0.0067	28	c.98- others(45): Show c.98-60722_98-60721insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91839275	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTAAGTACAGGC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0016 a0016	a0016c0031 a0016c0031	a0016c0031t0004 a0016c0031t0004	a0016c0031t0004g0122 a0016c0031t0004g0122	1	167	0.0060	28	c.98- others(45): Show c.98-63458_98-63457insGCCTGTACTTACACACACACACACACAC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91937029	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	62	0.0161	28	c.97+ others(45): Show c.97+12837_97+12838insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60516223	T T	TTATATAT others(21): Show TTATATATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0098 a0001c0001t0017g0098	1	74	0.0135	28	c.283 others(45): Show c.283-1467_283-1466insTAAATATATATATAAATATATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60671067	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG03669.hp1 HG02965.hp1 HG02965.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0034 a0001c0001t0043 a0001c0006t0004 a0001c0001t0034 a0001c0001t0043 a0001c0006t0004	a0001c0001t0034g0056 a0001c0001t0043g0087 a0001c0006t0004g0078 a0001c0001t0034g0056 a0001c0001t0043g0087 a0001c0006t0004g0078	3	37	0.0811	28	c.196 others(45): Show c.196+7562_196+7589dupATATATATATATATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60819757	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03225.hp2 HG03471.hp1 HG01169.hp2 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0024 a0001c0001t0011 a0001c0001t0018 a0001c0001t0024	a0001c0001t0011g0021 a0001c0001t0018g0026 a0001c0001t0024g0103 a0001c0001t0011g0021 a0001c0001t0018g0026 a0001c0001t0024g0103	3	117	0.0256	28	c.167 others(49): Show c.167-141072_167-141071insCGTGTGTGTGTGTGTGTGTGTGTG TGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02602.hp2 HG03579.hp2 others(2): Show HG01891.hp2 HG02602.hp2 HG03579.hp2 HG03669.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0005 a0001c0001t0034 a0001c0002t0003 others(1): Show a0001c0001t0005 a0001c0001t0034 a0001c0002t0003 a0001c0007t0003	a0001c0001t0005g0047 a0001c0001t0034g0056 a0001c0002t0003g0013 others(2): Show a0001c0001t0005g0047 a0001c0001t0034g0056 a0001c0002t0003g0013 a0001c0002t0003g0036 a0001c0007t0003g0084	5	11	0.4545	28	c.166 others(49): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORC_chr1_151801071_151836802	151830659	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	147	0.0068	28	c.40+ others(43): Show c.40+1065_40+1066insATGTGTGTGTGTGTGTGTGTGTGTGTGT	RORC	ENSG00000143365.20	transcript	ENST00000318247.7	protein_coding	1/10			chr1	TogoVar
RP2_chrX_46832043_46887358	46847687	T T	TATATATG others(21): Show TATATATGTGTGTGTGTATATATACACAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19065.hp1 NA18984.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	272	0.0074	28	c.103 others(45): Show c.103-5767_103-5740dupTACACACATATATGTGTGTGTGTATATA	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA3_chr7_7631518_7723607	7679342	T T	TACATGTT others(21): Show TACATGTTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	26	0.0385	28	c.-75 others(47): Show c.-758+6487_-758+6488insTATCTATAAATTAAATATATAAACAT GT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679342	T T	TACATGTT others(21): Show TACATGTTTATATATTTAGTTTATAGATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01109.hp2 others(47): Show HG00544.hp2 HG00741.hp2 HG01109.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02135.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18949.hp1 NA18957.hp1 NA18965.hp2 NA18986.hp1 NA19001.hp2 NA19012.hp1 NA19063.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(46): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0217 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0256 a0001c0001t0002g0091 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0298 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0037 a0001c0001t0004g0257 a0001c0001t0005g0004 a0001c0001t0005g0058 a0001c0001t0005g0061 a0001c0001t0006g0123 a0001c0001t0008g0202 a0001c0001t0008g0232 a0001c0001t0008g0235 a0001c0001t0008g0241 a0001c0001t0010g0067 a0001c0001t0025g0039	50	75	0.6667	28	c.-75 others(47): Show c.-758+6487_-758+6488insTATCTATAAACTAAATATATAAACAT GT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679372	T T	TACATGTT others(21): Show TACATGTTTATATATTTAGTTTATAGATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp2 NA18988.hp1 others(2): Show HG02109.hp1 HG03579.hp2 NA18988.hp1 NA18999.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0001 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0005g0060 a0001c0001t0012g0290	5	89	0.0562	28	c.-75 others(47): Show c.-758+6457_-758+6458insTATCTATAAACTAAATATATAAACAT GT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01255.hp1 others(8): Show HG00642.hp1 HG01070.hp2 HG01255.hp1 HG01255.hp2 HG02809.hp2 HG03130.hp2 HG04184.hp1 HG04199.hp1 NA18982.hp1 NA19058.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0031 a0001c0001t0033 a0001c0001t0040 a0001c0001t0045	a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0108 others(8): Show a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0108 a0001c0001t0003g0107 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0020g0106 a0001c0001t0031g0105 a0001c0001t0033g0135 a0001c0001t0040g0104 a0001c0001t0045g0143	11	61	0.1803	28	c.399 others(45): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPE65_chr1_68423822_68454954	68452696	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	181	0.0055	28	c.-27 others(39): Show c.-2792_-2791insACACACACACACACACACACACACACAC	RPE65	ENSG00000116745.7	transcript	ENST00000262340.6	protein_coding		2743		chr1	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02135.hp2 NA19074.hp1 others(1): Show HG02074.hp1 HG02135.hp2 NA19074.hp1 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0158 others(1): Show a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0158 a0002c0002t0001g0177	4	85	0.0471	28	c.361 others(47): Show c.3616+1951_3616+1952insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21297834	A A	ATTCTTTC others(21): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG04204.hp1 HG02965.hp2 HG04204.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0003 a0001c0004t0001 a0003c0003t0003	a0001c0004t0001g0195 a0003c0003t0003g0013 a0001c0004t0001g0195 a0003c0003t0003g0013	2	33	0.0606	28	c.218 others(45): Show c.218+3044_218+3071dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297834	A A	ATTTTTTC others(21): Show ATTTTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	32	0.0313	28	c.218 others(45): Show c.218+3027_218+3028insTTTTCTTTCTTTCTTTCTTTCTTTCTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	272967	T T	TGAGACCC others(21): Show TGAGACCCCAGCGAGGGCGACATCAGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02572.hp1 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0017 a0002c0011t0001 a0001c0001t0017 a0002c0011t0001	a0001c0001t0017g0099 a0002c0011t0001g0016 a0001c0001t0017g0099 a0002c0011t0001g0016	2	59	0.0339	28	c.438 others(45): Show c.438+8800_438+8801insTTCCTGATGTCGCCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	272967	T T	TGAGACCC others(21): Show TGAGACCCCAGCGAGGGGGACATCAGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	58	0.0172	28	c.438 others(45): Show c.438+8800_438+8801insTTCCTGATGTCCCCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273022	A A	AAGAGACC others(21): Show AAGAGACCCCAGCGAGGGTGACGTCAGGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	75	0.0133	28	c.438 others(45): Show c.438+8745_438+8746insCCCTGACGTCACCCTCGCTGGGGTCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273069	G G	GACGTCAG others(21): Show GACGTCAGGGAGAGACCCCAGCAAGGGCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	131	0.0076	28	c.438 others(45): Show c.438+8698_438+8699insAGCCCTTGCTGGGGTCTCTCCCTGACGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273078	G G	GAGAGACC others(21): Show GAGAGACCCCAGCGAGGGGGACATCAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	122	0.0082	28	c.438 others(45): Show c.438+8689_438+8690insTCCTGATGTCCCCCTCGCTGGGGTCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273163	T T	TGAGACCC others(21): Show TGAGACCCCAGCGAGGGCGACATCAGGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	70	0.0143	28	c.438 others(45): Show c.438+8604_438+8605insTTCCTGATGTCGCCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273180	T T	TGACTTCA others(21): Show TGACTTCAGGGAGAGACCCCAGCGAGGGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	104	0.0096	28	c.438 others(45): Show c.438+8587_438+8588insGCCCTCGCTGGGGTCTCTCCCTGAAGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273184	G G	GTCAGGGA others(21): Show GTCAGGGAGAGACCCCAGCGAGGGCGACT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	106	0.0094	28	c.438 others(45): Show c.438+8583_438+8584insAGTCGCCCTCGCTGGGGTCTCTCCCTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273274	G G	GAGAGACC others(21): Show GAGAGACCCCAGCGAGGGCGACATCAGGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	130	0.0077	28	c.438 others(45): Show c.438+8493_438+8494insTCCTGATGTCGCCCTCGCTGGGGTCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273303	A A	AGAGACCC others(21): Show AGAGACCCCAGCAAGGGTGACTTCAGGGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	127	0.0079	28	c.438 others(45): Show c.438+8464_438+8465insACCCTGAAGTCACCCTTGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273303	A A	AGAGACCC others(21): Show AGAGACCCCAGCGAGGGCGACGTCAGGGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	127	0.0079	28	c.438 others(45): Show c.438+8464_438+8465insACCCTGACGTCGCCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273315	G G	GAGGGTGA others(21): Show GAGGGTGACGTCAGGGAGAGACCCCAGCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0060 a0001c0002t0006g0060	1	120	0.0083	28	c.438 others(45): Show c.438+8452_438+8453insTGCTGGGGTCTCTCCCTGACGTCACCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273330	G G	GTGAGACC others(21): Show GTGAGACCCCAGCGAGGGCGACGTCAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0103 a0001c0002t0029g0103	1	98	0.0102	28	c.438 others(45): Show c.438+8437_438+8438insTCCTGACGTCGCCCTCGCTGGGGTCTCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273432	C C	CGACGTCA others(21): Show CGACGTCAGGGAGAGACCCCAGCGCGGGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0108 a0001c0001t0013g0108	1	94	0.0106	28	c.438 others(45): Show c.438+8335_438+8336insACCCGCGCTGGGGTCTCTCCCTGACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273435	C C	CGTCAGGG others(21): Show CGTCAGGGAGAGACCCCAGCAAGGGTGAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0016 a0002c0011t0001g0016	1	127	0.0079	28	c.438 others(45): Show c.438+8332_438+8333insATCACCCTTGCTGGGGTCTCTCCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273452	A A	AGCGAGGG others(21): Show AGCGAGGGTGACTTCAGGGTGAGACCCCG	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18612.hp2 NA19004.hp2 others(1): Show HG01070.hp2 NA18612.hp2 NA19004.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0037 a0001c0002t0009	a0001c0001t0001g0027 a0001c0001t0012g0005 a0001c0001t0037g0058 others(1): Show a0001c0001t0001g0027 a0001c0001t0012g0005 a0001c0001t0037g0058 a0001c0002t0009g0126	4	131	0.0305	28	c.438 others(45): Show c.438+8315_438+8316insCGGGGTCTCACCCTGAAGTCACCCTCGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273470	G G	GAGAGACC others(21): Show GAGAGACCCCAGCGCGGGTGACGTCAGGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	103	0.0097	28	c.438 others(45): Show c.438+8297_438+8298insTCCTGACGTCACCCGCGCTGGGGTCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273519	C C	CGTCAGGG others(21): Show CGTCAGGGAGAGACCCCAGCAAGGGTGAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG02080.hp1 others(6): Show HG00280.hp2 HG01070.hp2 HG02080.hp1 HG03453.hp2 NA18612.hp2 NA18999.hp2 NA19004.hp2 NA19079.hp1 NA19088.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0037 a0001c0002t0009 a0001c0004t0001 a0007c0014t0018	a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0002g0109 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0065 a0001c0001t0002g0109 a0001c0001t0012g0005 a0001c0001t0014g0023 a0001c0001t0037g0058 a0001c0002t0009g0126 a0001c0004t0001g0062 a0007c0014t0018g0102	9	96	0.0938	28	c.438 others(45): Show c.438+8248_438+8249insATCACCCTTGCTGGGGTCTCTCCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273576	G G	GTCAGGGA others(21): Show GTCAGGGAGAGACCCCAGCAAGGGTGACT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0104 a0001c0001t0006g0072 a0001c0001t0001g0104 a0001c0001t0006g0072	2	60	0.0333	28	c.438 others(45): Show c.438+8191_438+8192insAGTCACCCTTGCTGGGGTCTCTCCCTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar

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