Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RNGTT_chr6_88604897_88968618	88755959	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	140	0.0071	30	c.143 others(51): Show c.1439+13814_1439+13815insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88901495	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	80	0.0125	30	c.684 others(47): Show c.684+3219_684+3220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	6/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	79496387	C C	CATTTTTT others(23): Show CATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0043 a0001c0008t0015g0043	1	9	0.1111	30	c.88+ others(47): Show c.88+93436_88+93437insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGGAAAGAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	11	0.0909	30	c.88+ others(47): Show c.88+39628_88+39629insTTTTCTTTTCTTTCTTTCCTTTCTTTCT TT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771097	T T	TATATGTA others(23): Show TATATGTATATATACACATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02109.hp2 others(6): Show HG01109.hp1 HG02109.hp1 HG02109.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03471.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0011 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0005t0002 a0001c0008t0003 a0001c0011t0001 a0003c0006t0006	a0001c0001t0002g0039 a0001c0001t0003g0036 a0001c0001t0005g0035 others(6): Show a0001c0001t0002g0039 a0001c0001t0003g0036 a0001c0001t0005g0035 a0001c0002t0001g0028 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0008t0003g0037 a0001c0011t0001g0038 a0003c0006t0006g0040	9	44	0.2045	30	c.-33 others(41): Show c.-3397_-3396insGTGTGTGTATATATGTGTATATATACATAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3100		chr3	TogoVar
ROBO2_chr3_77035099_77654964	77126697	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0053 a0001c0001t0011g0053	1	152	0.0066	30	c.388 others(49): Show c.388+28373_388+28374insATATATATATATATATATATATATAT ATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77180416	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0157 a0001c0001t0007g0157	1	83	0.0120	30	c.388 others(49): Show c.388+82077_388+82078insCTCTCTCTCTCTCTCTATATATATAT ATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252831	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	19	0.0526	30	c.388 others(51): Show c.388+154492_388+154493insAATATATATATATATATATATATA TATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410567	T T	TTCCTCCT others(23): Show TTCCTCCTCCTCTTCCTCCTCCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp1 HG01255.hp2 others(24): Show HG00280.hp2 HG01071.hp1 HG01255.hp2 HG01258.hp1 HG02055.hp1 HG02056.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp1 HG03654.hp2 NA18957.hp1 NA18968.hp1 NA19060.hp1 NA19077.hp1 NA19079.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0009 a0005c0007 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0025 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0002c0003t0001 a0002c0003t0002 a0002c0009t0002 a0005c0007t0002 a0006c0005t0002	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0039 others(24): Show a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0160 a0001c0001t0002g0079 a0001c0001t0002g0128 a0001c0001t0003g0142 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0004g0119 a0001c0001t0005g0050 a0001c0001t0006g0015 a0001c0001t0011g0047 a0001c0001t0013g0098 a0001c0001t0020g0009 a0001c0001t0025g0078 a0001c0002t0007g0113 a0001c0002t0007g0115 a0001c0002t0012g0114 a0001c0002t0018g0086 a0002c0003t0001g0136 a0002c0003t0002g0108 a0002c0009t0002g0080 a0005c0007t0002g0083 a0006c0005t0002g0088	27	132	0.2045	30	c.389 others(49): Show c.389-66827_389-66798dupCCTCCTCTTCCTCCTCCTCCTCTTCC TCCT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410575	C C	CCTCTTCC others(23): Show CCTCTTCCTCCTCCTCCTCTTCCTCCTCCTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01071.hp2 others(22): Show HG00140.hp2 HG00642.hp1 HG01071.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG02071.hp2 HG02145.hp1 HG02738.hp2 HG03195.hp2 HG03239.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp2 NA18948.hp2 NA18960.hp1 NA18973.hp1 NA18986.hp2 NA19005.hp2 NA19011.hp2 NA19062.hp2 NA19070.hp1 NA19079.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0029 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0008c0012t0004	a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0040 others(22): Show a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0002g0094 a0001c0001t0002g0143 a0001c0001t0003g0006 a0001c0001t0004g0010 a0001c0001t0004g0109 a0001c0001t0004g0122 a0001c0001t0004g0133 a0001c0001t0005g0043 a0001c0001t0005g0095 a0001c0001t0005g0129 a0001c0001t0008g0032 a0001c0001t0009g0093 a0001c0001t0010g0110 a0001c0001t0012g0045 a0001c0001t0013g0127 a0001c0001t0029g0042 a0001c0001t0035g0041 a0001c0001t0040g0057 a0001c0001t0042g0149 a0008c0012t0004g0059	25	160	0.1563	30	c.389 others(49): Show c.389-66810_389-66809insGCTCTTCCTCCTCCTCCTCTTCCTCC TCCT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77410660	T T	TTCCTCCT others(23): Show TTCCTCCTCCTCTTCCTCCTCCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp1 HG01255.hp2 others(26): Show HG00280.hp2 HG01071.hp1 HG01255.hp2 HG01258.hp1 HG02055.hp1 HG02056.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp1 HG03654.hp2 NA18957.hp1 NA18968.hp1 NA19005.hp1 NA19060.hp1 NA19077.hp1 NA19079.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0009 a0005c0007 a0006c0005 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0025 a0001c0002t0007 a0001c0002t0012 a0001c0002t0018 a0002c0003t0001 a0002c0003t0002 a0002c0009t0002 a0005c0007t0002 a0006c0005t0002 a0007c0013t0003	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0039 others(26): Show a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0160 a0001c0001t0002g0079 a0001c0001t0002g0128 a0001c0001t0003g0142 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0004g0119 a0001c0001t0005g0050 a0001c0001t0006g0015 a0001c0001t0009g0089 a0001c0001t0011g0047 a0001c0001t0013g0098 a0001c0001t0020g0009 a0001c0001t0025g0078 a0001c0002t0007g0113 a0001c0002t0007g0115 a0001c0002t0012g0114 a0001c0002t0018g0086 a0002c0003t0001g0136 a0002c0003t0002g0108 a0002c0009t0002g0080 a0005c0007t0002g0083 a0006c0005t0002g0088 a0007c0013t0003g0147	29	142	0.2042	30	c.389 others(49): Show c.389-66745_389-66716dupCTCTTCCTCCTCCTCCTCTTCCTCCT CCTC	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77433486	G G	GTACATAT others(23): Show GTACATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0072 a0001c0001t0045g0072	1	23	0.0435	30	c.389 others(49): Show c.389-43926_389-43925insCATATATATATATATATATATATATA TATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77433486	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02451.hp2 HG00597.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0101 a0001c0001t0016g0112 a0001c0001t0003g0101 a0001c0001t0016g0112	2	24	0.0833	30	c.389 others(49): Show c.389-43924_389-43895dupATATATATATATATATATATATATAT ATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20959099	T T	TATATTAT others(23): Show TATATTATATATATATTATATAATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0125 a0001c0001t0022g0125	1	179	0.0056	30	c.351 others(47): Show c.3512+711_3512+740dupTATATATATTATATAATATATATATAAT AT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	21033854	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	27	0.0370	30	c.105 others(49): Show c.1052-4949_1052-4920dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	9/32			chr18	TogoVar
ROCK2_chr2_11174759_11349636	11238209	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19062.hp2 HG01069.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0025 a0001c0003t0006 a0001c0001t0025 a0001c0003t0006	a0001c0001t0025g0263 a0001c0003t0006g0312 a0001c0001t0025g0263 a0001c0003t0006g0312	2	39	0.0513	30	c.463 others(47): Show c.463-2277_463-2248dupACACACACACACACACACACACACACAC AC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	46	0.0217	30	c.142 others(47): Show c.142-8270_142-8269insTCTCTCTCTCCCCTCTCTCTCTCTCTCT CT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(23): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01243.hp2 others(7): Show HG00280.hp1 HG00323.hp1 HG01243.hp2 HG01928.hp1 HG02040.hp1 HG02135.hp1 NA18946.hp2 NA18951.hp2 NA18981.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0001c0001t0061 a0001c0001t0062 a0001c0010t0051	a0001c0001t0001g0129 a0001c0001t0001g0162 a0001c0001t0001g0164 others(7): Show a0001c0001t0001g0129 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0206 a0001c0001t0008g0154 a0001c0001t0021g0152 a0001c0001t0061g0200 a0001c0001t0062g0185 a0001c0010t0051g0153	10	55	0.1818	30	c.142 others(47): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCCCCCTCTC CC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(23): Show GGGGAGAGGGGGGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0190 a0001c0001t0057g0190	1	46	0.0217	30	c.142 others(47): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCCCCCCCTCTC CC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(23): Show GGGGAGAGGGGGGGGGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	46	0.0217	30	c.142 others(47): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCCCCCCCCCTCTC CC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11330756	A A	AGGAGGGA others(23): Show AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0031 a0002c0013t0031	a0002c0013t0031g0005 a0002c0013t0031g0005	1	318	0.0031	30	c.141 others(49): Show c.141+13239_141+13240insCTCCTCCTCCTCCCTCCTCCTCCTCC CTCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11331017	A A	AAGGAGGG others(23): Show AAGGAGGGAGGAGGAGGGAGGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02280.hp2 others(5): Show HG01884.hp1 HG02055.hp2 HG02280.hp2 HG02486.hp1 HG02717.hp1 HG02886.hp1 HG02896.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0063 a0001c0001t0004 a0001c0001t0007 a0001c0001t0063	a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 others(5): Show a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0007g0241 a0001c0001t0063g0250	8	179	0.0447	30	c.141 others(49): Show c.141+12949_141+12978dupCCTCCCTCCTCCTCCCTCCTCCTCCC TCCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROPN1_chr3_123964015_123997124	123986018	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19067.hp1 HG02132.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0107 a0001c0002t0001g0108	2	18	0.1111	30	c.-12 others(47): Show c.-12-5526_-12-5525insATTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5			chr3	TogoVar
ROR1_chr1_63769017_64186498	64016733	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG06807.hp1 HG03654.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0001 a0001c0014t0012 a0001c0002t0001 a0001c0014t0012	a0001c0002t0001g0084 a0001c0014t0012g0053 a0001c0002t0001g0084 a0001c0014t0012g0053	2	59	0.0339	30	c.163 others(47): Show c.163+7373_163+7374insTATATATATATATATATATATATATATA TA	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(23): Show TGTGTGTGTGTGTGTGTGTGTAAGTACAGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG02027.hp2 others(3): Show HG00544.hp1 HG00642.hp1 HG02027.hp2 HG02165.hp2 HG02683.hp2 NA19056.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0004 a0002c0006 a0003c0003 others(1): Show a0002c0004 a0002c0006 a0003c0003 a0004c0002	a0002c0004t0012 a0002c0006t0004 a0003c0003t0002 others(1): Show a0002c0004t0012 a0002c0006t0004 a0003c0003t0002 a0004c0002t0002	a0002c0004t0012g0114 a0002c0006t0004g0075 a0003c0003t0002g0111 others(3): Show a0002c0004t0012g0114 a0002c0006t0004g0075 a0003c0003t0002g0111 a0003c0003t0002g0115 a0004c0002t0002g0125 a0004c0002t0002g0137	6	172	0.0349	30	c.98- others(47): Show c.98-63487_98-63458dupGCCTGTACTTACACACACACACACACAC AC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91852624	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	19	0.0526	30	c.98- others(47): Show c.98-76807_98-76806insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
ROR2_chr9_91717601_91955228	91937029	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0150 a0001c0005t0003g0151 a0001c0005t0003g0150 a0001c0005t0003g0151	2	63	0.0317	30	c.97+ others(47): Show c.97+12837_97+12838insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60515957	T T	TTATATAT others(23): Show TTATATATATTTATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0069 a0001c0004t0019g0069	1	63	0.0159	30	c.283 others(47): Show c.283-1201_283-1200insTAAATATATAAATATATATAAATATATA TA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60516223	T T	TTATATAT others(23): Show TTATATATATATATTTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	74	0.0135	30	c.283 others(47): Show c.283-1467_283-1466insTAAATATATATATATAAATATATATATA TA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60517110	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19043.hp2 HG02965.hp1 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0001 a0001c0006t0004g0078 a0001c0006t0004g0001 a0001c0006t0004g0078	2	24	0.0833	30	c.283 others(47): Show c.283-2354_283-2353insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60671067	G G	GATATATA others(23): Show GATATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0044 a0001c0001t0038g0044	1	35	0.0286	30	c.196 others(47): Show c.196+7589_196+7590insATATATATATATATATATATATGTATAT AT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60671067	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03516.hp1 NA18906.hp1 others(2): Show HG02280.hp1 HG03516.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0009 a0001c0002t0056 a0001c0006t0004 others(1): Show a0001c0001t0009 a0001c0002t0056 a0001c0006t0004 a0001c0007t0003	a0001c0001t0009g0038 a0001c0001t0009g0079 a0001c0002t0056g0110 others(2): Show a0001c0001t0009g0038 a0001c0001t0009g0079 a0001c0002t0056g0110 a0001c0006t0004g0001 a0001c0007t0003g0097	5	39	0.1282	30	c.196 others(47): Show c.196+7560_196+7589dupATATATATATATATATATATATATATAT AT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816734	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0024 a0001c0005t0004g0024	1	109	0.0092	30	c.167 others(51): Show c.167-138049_167-138048insTATTTTATTTTATTTTATTTTATT TTATTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60819755	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	118	0.0085	30	c.167 others(51): Show c.167-141070_167-141069insCGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61007732	T T	TTATATAA others(23): Show TTATATAACATTAGGCTAATGTTATATATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0004 a0001c0001t0045g0004	1	118	0.0085	30	c.166 others(51): Show c.166+221320_166+221321insTAATATATAACATTAGCCTAATGT TATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18906.hp1 HG02165.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0020 a0001c0001t0009 a0001c0001t0020	a0001c0001t0009g0079 a0001c0001t0020g0040 a0001c0001t0009g0079 a0001c0001t0020g0040	2	8	0.2500	30	c.166 others(51): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(23): Show TATATATATATATACACACACATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	310	0.0032	30	c.-40 others(41): Show c.-4031_-4030insATATATATATATACACACACATACACACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(23): Show TATATATATATATATACACACATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	310	0.0032	30	c.-40 others(41): Show c.-4031_-4030insATATATATATATATACACACATACACACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPE65_chr1_68423822_68454954	68452696	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG01891.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0069 a0001c0001t0001g0035 a0001c0001t0001g0069	2	182	0.0110	30	c.-27 others(41): Show c.-2792_-2791insACACACACACACACACACACACACACACAC	RPE65	ENSG00000116745.7	transcript	ENST00000262340.6	protein_coding		2743		chr1	TogoVar
RPEL1_chr10_103240887_103253016	103251236	C C	CCACCACC others(23): Show CCACCACCACCACCATCACCATCTCCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	374	0.0027	30	c.45 others(41): Show c.4553_*4554insCACCACCACCACCATCACCATCTCCACCAT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3221		chr10	TogoVar
RPGRIP1_chr14_21275083_21356301	21297879	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	319	0.0031	30	c.218 others(47): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	244010	C C	CTTCCTCT others(23): Show CTTCCTCTATTGATTACCTTCCTCTATTACT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	132	0.0076	30	c.613 others(47): Show c.613+3071_613+3100dupAGTAATAGAGGAAGGTAATCAATAGAGG AA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287767	A A	ACCCTCTC others(23): Show ACCCTCTCTCTCCACCGTCAGACCTCACTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	127	0.0079	30	c.352 others(47): Show c.352-5914_352-5913insGGAGTGAGGTCTGACGGTGGAGAGAGAG GG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288139	C C	CCTCTCTC others(23): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	122	0.0082	30	c.352 others(47): Show c.352-6286_352-6285insAGGGTGCGAGGTCTGACGGTGGAGAGAG AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288271	C C	CCTCTCTC others(23): Show CCTCTCTCTCCACCGTCAGACCTCACTCCCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18999.hp2 NA19005.hp1 NA18947.hp1 NA18999.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025	a0001c0001t0014g0023 a0001c0001t0024g0082 a0001c0001t0025g0076 a0001c0001t0014g0023 a0001c0001t0024g0082 a0001c0001t0025g0076	3	127	0.0236	30	c.352 others(47): Show c.352-6418_352-6417insAGGGAGTGAGGTCTGACGGTGGAGAGAG AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288785	C C	CCTCTCTC others(23): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02976.hp1 HG03017.hp2 others(2): Show HG01361.hp1 HG02976.hp1 HG03017.hp2 NA18947.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0025 a0001c0002t0001	a0001c0001t0001g0124 a0001c0001t0005g0017 a0001c0001t0014g0025 others(2): Show a0001c0001t0001g0124 a0001c0001t0005g0017 a0001c0001t0014g0025 a0001c0001t0025g0076 a0001c0002t0001g0002	5	117	0.0427	30	c.352 others(47): Show c.352-6932_352-6931insAGGGTGCGAGGTCTGACGGTGGAGAGAG AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288811	C C	CCTCTCTC others(23): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	126	0.0079	30	c.352 others(47): Show c.352-6958_352-6957insAGGGTGCGAGGTCTGACGGTGGAGAGAG AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	295358	G G	GCAGAGGG others(23): Show GCAGAGGGAATGCACATCAGTGTGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp1 HG01496.hp2 others(28): Show HG00544.hp2 HG01243.hp1 HG01496.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02895.hp1 HG03516.hp2 HG04184.hp1 NA18612.hp1 NA18940.hp1 NA18947.hp2 NA18951.hp1 NA18959.hp2 NA18963.hp2 NA18983.hp1 NA18995.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19043.hp2 NA19074.hp1 NA19079.hp1 NA19088.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0002c0012 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0033 a0001c0001t0034 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0018 a0001c0003t0028 a0001c0004t0001 a0001c0008t0001 a0001c0015t0007 a0002c0012t0005 a0008c0010t0003	a0001c0001t0001g0024 a0001c0001t0002g0049 a0001c0001t0002g0051 others(28): Show a0001c0001t0001g0024 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0034 a0001c0001t0003g0052 a0001c0001t0003g0080 a0001c0001t0006g0105 a0001c0001t0007g0098 a0001c0001t0008g0042 a0001c0001t0011g0003 a0001c0001t0011g0056 a0001c0001t0012g0053 a0001c0001t0014g0106 a0001c0001t0021g0077 a0001c0001t0033g0063 a0001c0001t0034g0018 a0001c0002t0001g0057 a0001c0002t0006g0060 a0001c0003t0001g0075 a0001c0003t0018g0019 a0001c0003t0028g0088 a0001c0004t0001g0046 a0001c0004t0001g0050 a0001c0004t0001g0062 a0001c0004t0001g0086 a0001c0008t0001g0044 a0001c0015t0007g0026 a0002c0012t0005g0020 a0008c0010t0003g0084	31	64	0.4844	30	c.352 others(49): Show c.352-13534_352-13505dupTCCCTCCCACACTGATGTGCATTCCC TCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	295577	G G	GCAGAGGG others(23): Show GCAGAGGGAATGCACATCAGTGTGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0022 a0001c0006t0004g0022	1	128	0.0078	30	c.352 others(49): Show c.352-13753_352-13724dupTCCCTCCCACACTGATGTGCATTCCC TCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314396	A A	AAGTCTCT others(23): Show AAGTCTCTGTGCCCCACCTCCACTGACATGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18999.hp2 HG02165.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0106 a0001c0001t0014g0023 a0001c0001t0014g0106	2	132	0.0152	30	c.351 others(47): Show c.351+5023_351+5024insGCATGTCAGTGGAGGTGGGGCACAGAGA CT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar

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