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
ROR1_chr1_63769017_64186498	64014721	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0024 a0001c0002t0006g0024	1	96	0.0104	26	c.163 others(43): Show c.163+5351_163+5352insTATATATATATATATATATGTATATA	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(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	96	0.0104	26	c.163 others(43): Show c.163+5398_163+5399insTATATATATATATATATATACACACA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64016733	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0094 a0001c0007t0004g0094	1	96	0.0104	26	c.163 others(43): Show c.163+7358_163+7359insTTATATATATATATATATATATATAT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64121059	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	96	0.0104	26	c.483 others(45): Show c.483-16296_483-16271dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91839273	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTAAGTACAGGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0099 a0001c0005t0009g0099	1	226	0.0044	26	c.98- others(43): Show c.98-63456_98-63455insGCCTGTACTTACACACACACACACAC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91839275	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTAAGTACAGGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03710.hp2 NA18969.hp1 others(3): Show HG00621.hp1 HG03710.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA19012.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0003 a0001c0001 a0002c0006 a0003c0003	a0001c0001t0001 a0002c0006t0004 a0003c0003t0002 a0001c0001t0001 a0002c0006t0004 a0003c0003t0002	a0001c0001t0001g0169 a0002c0006t0004g0026 a0002c0006t0004g0113 others(3): Show a0001c0001t0001g0169 a0002c0006t0004g0026 a0002c0006t0004g0113 a0002c0006t0004g0181 a0003c0003t0002g0118 a0003c0003t0002g0119	6	226	0.0266	26	c.98- others(43): Show c.98-63458_98-63457insGCCTGTACTTACACACACACACACAC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91852624	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0215 a0001c0005t0003g0215	1	226	0.0044	26	c.98- others(43): Show c.98-76832_98-76807dupGTGTGTGTGTGTGTGTGTGTGTGTGT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91925466	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	226	0.0044	26	c.97+ others(43): Show c.97+24375_97+24400dupCACACACACACACACACACACACACA	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60516173	T T	TTATATAT others(19): Show TTATATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0006 a0001c0004t0019g0006	1	118	0.0085	26	c.283 others(43): Show c.283-1442_283-1417dupTAAATATATATATAAATATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60517110	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0100 a0001c0005t0025g0100	1	118	0.0085	26	c.283 others(43): Show c.283-2354_283-2353insAAAAAAAAAAAAAAAAAAAAAAAAAA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60590175	A A	ATCTCTCT others(19): Show ATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0032	1	118	0.0085	26	c.197 others(45): Show c.197-58325_197-58324insGAGAGAGAGAGAGAGAGAGAGAGAGA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60671066	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0103 a0001c0001t0024g0103	1	118	0.0085	26	c.196 others(43): Show c.196+7590_196+7591insTATATATATATATATATATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60671067	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02451.hp2 others(2): Show HG01884.hp2 HG02055.hp2 HG02451.hp2 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0022 a0001c0001t0045 others(1): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0045 a0001c0003t0015	a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0022g0117 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0022g0117 a0001c0001t0045g0004 a0001c0003t0015g0077	5	118	0.0424	26	c.196 others(43): Show c.196+7564_196+7589dupATATATATATATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816480	T T	TAAACAGT others(19): Show TAAACAGTATATGTATTTATATACTGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0071 a0001c0004t0008g0071	1	118	0.0085	26	c.167 others(47): Show c.167-137795_167-137794insGCAGTATATAAATACATATACTGT TT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816614	C C	CAGTATAT others(19): Show CAGTATATGTATTTATATACTGTAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02165.hp2 HG03139.hp2 HG01109.hp1 HG02165.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0030 a0001c0005t0004 a0001c0001t0002 a0001c0001t0030 a0001c0005t0004	a0001c0001t0002g0059 a0001c0001t0030g0076 a0001c0005t0004g0027 a0001c0001t0002g0059 a0001c0001t0030g0076 a0001c0005t0004g0027	3	118	0.0254	26	c.167 others(47): Show c.167-137929_167-137928insATTTACAGTATATAAATACATATA CT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02647.hp2 HG03225.hp1 HG00280.hp1 HG02647.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0047 a0001c0001t0005 a0001c0001t0012 a0001c0001t0047	a0001c0001t0005g0073 a0001c0001t0012g0034 a0001c0001t0047g0023 a0001c0001t0005g0073 a0001c0001t0012g0034 a0001c0001t0047g0023	3	118	0.0254	26	c.166 others(47): Show c.166+175204_166+175205insATATATATATATATATATATATAT AT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74514804	A A	ACTACAGT others(19): Show ACTACAGTCTAGGCGTTGACCACAGTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0173 a0001c0001t0053g0173	1	226	0.0044	26	c.7+1 others(41): Show c.7+16824_7+16825insCAGTCTAGGCGTTGACCACAGTTCTA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RORC_chr1_151801071_151836802	151830621	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	430	0.0023	26	c.40+ others(41): Show c.40+1078_40+1103dupGTGTGTGTGTGTGTGTGTGTGTGTGT	RORC	ENSG00000143365.20	transcript	ENST00000318247.7	protein_coding	1/10			chr1	TogoVar
RORC_chr1_151801071_151836802	151830659	C C	CACACACA others(19): Show CACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02055.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0288 a0001c0001t0003g0289 a0001c0001t0001g0288 a0001c0001t0003g0289	2	430	0.0047	26	c.40+ others(41): Show c.40+1065_40+1066insATGTGTGTGTGTGTGTGTGTGTGTGT	RORC	ENSG00000143365.20	transcript	ENST00000318247.7	protein_coding	1/10			chr1	TogoVar
RP2_chrX_46832043_46887358	46847794	G G	GTGTATAT others(19): Show GTGTATATACACACATATGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	274	0.0037	26	c.103 others(43): Show c.103-5679_103-5678insATATACACACATATGTGTGTATATGT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA1_chr17_1825005_1905082	1891503	T T	TCCGCCTC others(19): Show TCCGCCTCCCGGGTTCAAGTGATTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(67): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG02129.hp2 HG02132.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG03239.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18985.hp1 NA18990.hp1 NA19005.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0002c0009 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0015t0002 a0002c0009t0001 a0002c0009t0003 a0007c0016t0002	a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0001g0058 others(66): Show a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0152 a0001c0001t0002g0057 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0039 a0001c0001t0003g0044 a0001c0001t0003g0079 a0001c0001t0004g0085 a0001c0001t0012g0052 a0001c0001t0012g0053 a0001c0001t0012g0108 a0001c0001t0042g0066 a0001c0002t0001g0183 a0001c0002t0001g0232 a0001c0002t0002g0113 a0001c0002t0002g0122 a0001c0002t0008g0311 a0001c0002t0008g0356 a0001c0015t0002g0120 a0002c0009t0001g0107 a0002c0009t0003g0082 a0007c0016t0002g0106	70	402	0.1741	26	c.155 others(43): Show c.1552-322_1552-297dupCCGGGTTCAAGTGATTCTCCCGCCTC	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA1_chr17_1825005_1905082	1891503	T T	TCCGCCTC others(19): Show TCCGCCTCCCGGGTTCAAGTTATTCTC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	402	0.0025	26	c.155 others(43): Show c.1552-311_1552-310insTATTCTCCCGCCTCCCGGGTTCAAGT	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(19): Show TATATATATATATACACACATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG06807.hp2 NA18522.hp2 HG01884.hp2 HG06807.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0123 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0123	3	400	0.0075	26	c.-40 others(37): Show c.-4031_-4030insATATATATATATACACACATACACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(19): Show TATATATATATATATACACACATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02970.hp2 HG02280.hp1 HG02451.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	3	400	0.0075	26	c.-40 others(37): Show c.-4031_-4030insATATATATATATATACACACATACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03486.hp2 NA18970.hp1 HG01256.hp2 HG03486.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0002c0004t0069 a0001c0001t0002 a0001c0001t0004 a0002c0004t0069	a0001c0001t0002g0069 a0001c0001t0004g0186 a0002c0004t0069g0010 a0001c0001t0002g0069 a0001c0001t0004g0186 a0002c0004t0069g0010	3	192	0.0156	26	c.399 others(43): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp2 HG01257.hp2 others(16): Show HG00609.hp1 HG01109.hp2 HG01257.hp2 HG03490.hp1 HG04115.hp1 NA18747.hp2 NA18946.hp1 NA18952.hp2 NA18959.hp2 NA18973.hp1 NA18982.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA19011.hp1 NA19065.hp1 NA19066.hp1 NA19084.hp2 NA19089.hp2	a0002 a0006 a0013 others(2): Show a0002 a0006 a0013 a0017 a0018	a0002c0002 a0006c0008 a0013c0027 others(2): Show a0002c0002 a0006c0008 a0013c0027 a0017c0016 a0018c0024	a0002c0002t0001 a0006c0008t0002 a0013c0027t0001 others(2): Show a0002c0002t0001 a0006c0008t0002 a0013c0027t0001 a0017c0016t0015 a0018c0024t0001	a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0154 others(16): Show a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0172 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0187 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0198 a0006c0008t0002g0260 a0013c0027t0001g0158 a0017c0016t0015g0152 a0018c0024t0001g0197	19	364	0.0522	26	c.361 others(45): Show c.3616+1926_3616+1951dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	332	0.0030	26	c.-42 others(37): Show c.-4249_-4248insTTTTTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297879	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	332	0.0030	26	c.218 others(43): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTTCTTTCT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGR_chrX_38279408_38332509	38332504	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	302	0.0033	26	c.-51 others(37): Show c.-5138_-5137insTATATATATATATATATATATATATA	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding		4996		chrX	TogoVar
RPH3AL_chr17_207389_357807	287047	T T	TCTCTCTC others(19): Show TCTCTCTCCACCATCAGACCTCACACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	133	0.0075	26	c.352 others(43): Show c.352-5194_352-5193insGGTGTGAGGTCTGATGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288705	T T	TCTCTCTC others(19): Show TCTCTCTCCACCGTCAGACCTCACTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	133	0.0075	26	c.352 others(43): Show c.352-6852_352-6851insGGAGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288865	T T	TCTCTCTC others(19): Show TCTCTCTCCACCGTCAGACCTCACACC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	133	0.0075	26	c.352 others(43): Show c.352-7012_352-7011insGGTGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288865	T T	TCTCTCTC others(19): Show TCTCTCTCCACCGTCAGACCTCACTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02818.hp2 others(1): Show HG01243.hp2 HG02055.hp2 HG02818.hp2 HG03516.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0019 a0001c0001 a0014c0019	a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 a0014c0019t0006	a0001c0001t0006g0105 a0001c0001t0010g0015 a0001c0001t0022g0071 others(1): Show a0001c0001t0006g0105 a0001c0001t0010g0015 a0001c0001t0022g0071 a0014c0019t0006g0060	4	133	0.0301	26	c.352 others(43): Show c.352-7037_352-7012dupGGAGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	320027	A A	AGGGGGAG others(19): Show AGGGGGAGGGAGACTGAGGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	133	0.0075	26	c.222 others(41): Show c.222-479_222-478insCTCCCTCCCCTCAGTCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	320068	A A	AGGGGGAG others(19): Show AGGGGGAGGGAGGGGGAGGGACATTGA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0077 a0001c0001t0021g0077	1	133	0.0075	26	c.222 others(41): Show c.222-520_222-519insTCAATGTCCCTCCCCCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	320227	A A	AGGGGGAG others(19): Show AGGGGGAGGGACATTGAGGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	133	0.0075	26	c.222 others(41): Show c.222-679_222-678insCTCCCTCCCCTCAATGTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791864	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0256 a0001c0002t0049g0256	1	266	0.0038	26	c.-28 others(35): Show c.-286_-285insAGAGAGAGAGAGAGAGAGAGAGAGAG	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36452	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02809.hp1 HG02886.hp1 others(10): Show HG01496.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0007	a0001c0001t0027 a0001c0001t0028 a0001c0001t0115 others(9): Show a0001c0001t0027 a0001c0001t0028 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0002t0028 a0001c0002t0118 a0001c0002t0120 a0001c0002t0121 a0001c0002t0122 a0003c0005t0114 a0004c0007t0119	a0001c0001t0027g0037 a0001c0001t0027g0206 a0001c0001t0028g0004 others(10): Show a0001c0001t0027g0037 a0001c0001t0027g0206 a0001c0001t0028g0004 a0001c0001t0115g0038 a0001c0001t0116g0032 a0001c0001t0117g0204 a0001c0002t0028g0091 a0001c0002t0118g0007 a0001c0002t0120g0001 a0001c0002t0121g0069 a0001c0002t0122g0072 a0003c0005t0114g0023 a0004c0007t0119g0207	13	266	0.0489	26	c.-27 others(35): Show c.-272_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112841173	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0141 a0001c0003t0141	a0001c0003t0141g0084 a0001c0003t0141g0084	1	266	0.0038	26	c.83+ others(41): Show c.83+4692_83+4693insAAAAAAAAAAAAAAAAAAAAAAAAAA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	26	c.-17 others(37): Show c.-1706_-1705insTATATATATATATATATATATATATT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	26	c.-17 others(37): Show c.-1706_-1705insTATATATATATATTTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	418	0.0024	26	c.50 others(37): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2747		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02735.hp2 HG03491.hp1 others(2): Show HG02155.hp2 HG02735.hp2 HG03491.hp1 NA18980.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0171 a0001c0001t0001g0023 a0001c0001t0001g0171	5	444	0.0113	26	c.192 others(43): Show c.192+1016_192+1041dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02647.hp1 HG03017.hp1 others(1): Show HG00438.hp1 HG02647.hp1 HG03017.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	4	422	0.0095	26	c.26 others(37): Show c.2601_*2626dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL26_chr17_8372516_8388193	8384050	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	26	c.-90 others(35): Show c.-900_-899insACACACACACACACACACACACACAC	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		858		chr17	TogoVar
RPL27_chr17_42993419_43007959	43007847	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 NA19240.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0002g0028 a0001c0001t0001g0050 a0001c0001t0002g0028	2	356	0.0056	26	c.49 others(37): Show c.4927_*4928insTATATATATATATATATATATATATA	RPL27	ENSG00000131469.15	transcript	ENST00000253788.12	protein_coding		4889		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG02895.hp1 others(7): Show HG02622.hp2 HG02886.hp1 HG02895.hp1 HG04115.hp2 NA18948.hp1 NA18975.hp2 NA18991.hp2 NA19004.hp1 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0004g0020 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0004g0020 a0001c0001t0005g0042	10	448	0.0223	26	c.43 others(37): Show c.4383_*4408dupTATATATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL39L_chr3_187115948_187144496	187134496	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	400	0.0025	26	c.-93 others(43): Show c.-93+4716_-93+4717insCTTTTTTTTTTTTTTTTTTTTTTTTT	RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2			chr3	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	318	0.0031	26	c.790 others(45): Show c.790-15278_790-15277insTATATATATATATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	318	0.0031	26	c.790 others(45): Show c.790-15278_790-15277insTATATATATATATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar

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