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
OLFM2_chr19_9848718_9941515	9900988	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 NA18955.hp2 others(3): Show HG01243.hp2 HG02145.hp2 NA18955.hp2 NA19004.hp1 NA19010.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 a0001c0001t0001 a0001c0001t0014 a0001c0003t0001	a0001c0001t0001g0050 a0001c0001t0001g0242 a0001c0001t0001g0244 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0014g0047 a0001c0003t0001g0048 a0001c0003t0001g0100	6	342	0.0175	24	c.63+ others(41): Show c.63+35315_63+35316insCCCTCCCTTCCTTCCTTCCTTCCT	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OLFM2_chr19_9848718_9941515	9900988	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	342	0.0029	24	c.63+ others(41): Show c.63+35315_63+35316insCCCTCCCTCCCTTCCTTCCTTCCT	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OLFM2_chr19_9848718_9941515	9900988	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	342	0.0029	24	c.63+ others(41): Show c.63+35315_63+35316insCCCTCCCTCCCTCCCTTCCTTCCT	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OLFM3_chr1_101797560_102001926	101966317	T T	TTTTGTGT others(17): Show TTTTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	306	0.0033	24	c.69+ others(41): Show c.69+30430_69+30431insCACACACACACACACACACACAAA	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFML2A_chr9_124772133_124819882	124787522	T T	TTTTATTT others(17): Show TTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp2 NA18951.hp1 NA18951.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0332 a0007c0008t0001g0339 a0001c0001t0001g0332 a0007c0008t0001g0339	2	380	0.0053	24	c.354 others(39): Show c.354+287_354+288insATTTTATTTTATTTTATTTTATTT	OLFML2A	ENSG00000185585.20	transcript	ENST00000373580.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFML2B_chr1_161978192_162028869	162022260	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0320 a0004c0006t0001g0320	1	384	0.0026	24	c.174 others(39): Show c.174+996_174+997insGAAAAAAAAAAAAAAAAAAAAAAA	OLFML2B	ENSG00000162745.11	transcript	ENST00000294794.8	protein_coding	1/7			chr1	TogoVar
OMA1_chr1_58475719_58551726	58499477	T T	TATAGATA others(17): Show TATAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp2 HG01192.hp2 others(12): Show HG00558.hp2 HG01175.hp2 HG01192.hp2 HG02074.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02922.hp1 HG03516.hp2 HG06807.hp2 NA18966.hp2 NA18971.hp1 NA19054.hp1 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0004c0008t0001	a0001c0001t0001g0120 a0001c0001t0001g0212 a0001c0001t0001g0213 others(12): Show a0001c0001t0001g0120 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0307 a0001c0001t0001g0323 a0001c0001t0003g0029 a0001c0001t0005g0043 a0004c0008t0001g0021 a0004c0008t0001g0022	15	384	0.0391	24	c.136 others(43): Show c.1365+6559_1365+6582dupCTATCTATCTATCTATCTATCTAT	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	8/8			chr1	TogoVar
OMG_chr17_31289647_31302239	31293178	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 NA19070.hp1 HG01884.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	364	0.0055	24	c.18 others(35): Show c.1807_*1830dupTTTTTTTTTTTTTTTTTTTTTTTT	OMG	ENSG00000126861.5	transcript	ENST00000247271.5	protein_coding		1468		chr17	TogoVar
ONECUT1_chr15_52750053_52795336	52774288	G G	GTTATTTA others(17): Show GTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02486.hp2 HG02735.hp2 others(1): Show HG00099.hp2 HG02486.hp2 HG02735.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0002g0225 a0001c0001t0002g0226 others(1): Show a0001c0001t0001g0092 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0274	4	412	0.0097	24	c.110 others(45): Show c.1105+14468_1105+14491dupATAAATAAATAAATAAATAAATAA	ONECUT1	ENSG00000169856.9	transcript	ENST00000305901.7	protein_coding	1/1			chr15	TogoVar
ONECUT3_chr19_1748506_1785988	1763366	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG04199.hp1 HG02165.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0228 a0001c0001t0042 a0001c0001t0228	a0001c0001t0042g0105 a0001c0001t0228g0148 a0001c0001t0042g0105 a0001c0001t0228g0148	2	370	0.0054	24	c.119 others(43): Show c.1192+8519_1192+8542dupAAAAAAAAAAAAAAAAAAAAAAAA	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
OOSP2_chr11_60035409_60053044	60041850	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	198	0.0051	24	c.64+ others(39): Show c.64+1347_64+1348insAAAAAAAAAAAAAAAAAAAAAAAA	OOSP2	ENSG00000149507.7	transcript	ENST00000278855.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
OPA3_chr19_45541281_45589802	45544795	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0349 a0001c0001t0005g0349	1	398	0.0025	24	c.86 others(35): Show c.8695_*8718dupATTTATTTATTTATTTATTTATTT	OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding		1485		chr19	TogoVar
OPA3_chr19_45541281_45589802	45572767	C C	CTATATAT others(17): Show CTATATATATCATACTATATATAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0139 a0001c0001t0028g0139	1	398	0.0025	24	c.142 others(43): Show c.142+11832_142+11855dupTCTATATATAGTATGATATATATA	OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding	1/1			chr19	TogoVar
OPCML_chr11_132409981_133537501	132452497	A A	ACTTCCTT others(17): Show ACTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03209.hp2 NA21309.hp2 HG02615.hp1 HG03209.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034	3	68	0.0441	24	c.506 others(43): Show c.506-15162_506-15139dupGAAGGAAGGAAGGAAGGAAGGAAG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	4/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132504489	A A	ATGAGGGT others(17): Show ATGAGGGTGCAGTCATGATATCACT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp2 NA18906.hp1 others(1): Show HG02258.hp2 HG02647.hp2 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0029 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0029 a0001c0001t0031	a0001c0001t0007g0040 a0001c0001t0010g0061 a0001c0001t0029g0058 others(1): Show a0001c0001t0007g0040 a0001c0001t0010g0061 a0001c0001t0029g0058 a0001c0001t0031g0062	4	68	0.0588	24	c.505 others(43): Show c.505+24548_505+24571dupAGTGATATCATGACTGCACCCTCA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	4/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132570777	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG03453.hp2 HG02145.hp1 HG02258.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0027 a0001c0001t0005 a0001c0001t0027	a0001c0001t0005g0023 a0001c0001t0005g0038 a0001c0001t0027g0055 a0001c0001t0005g0023 a0001c0001t0005g0038 a0001c0001t0027g0055	3	68	0.0441	24	c.380 others(43): Show c.380-41592_380-41591insAATATATATATATATATATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133140531	T T	TAAGAAGA others(17): Show TAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	68	0.0147	24	c.62- others(43): Show c.62-197545_62-197522dupCTTCTTCTTCTTCTTCTTCTTCTT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133140531	T T	TAATAAGA others(17): Show TAATAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	68	0.0147	24	c.62- others(43): Show c.62-197522_62-197521insCTTCTTCTTCTTCTTCTTCTTATT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133141048	C C	CGAAGAAG others(17): Show CGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	68	0.0147	24	c.62- others(43): Show c.62-198062_62-198039dupTTCTTCTTCTTCTTCTTCTTCTTC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133212073	G G	GGGTGGGG others(17): Show GGGTGGGGTTACACCTGCATAGTGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0028 a0001c0001t0012 a0001c0001t0028	a0001c0001t0012g0063 a0001c0001t0028g0059 a0001c0001t0012g0063 a0001c0001t0028g0059	2	68	0.0294	24	c.62- others(43): Show c.62-269087_62-269064dupTCACTATGCAGGTGTAACCCCACC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133247540	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03041.hp2 HG03225.hp1 others(2): Show HG01258.hp2 HG03041.hp2 HG03225.hp1 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0028	a0001c0001t0002g0042 a0001c0001t0003g0016 a0001c0001t0004g0048 others(2): Show a0001c0001t0002g0042 a0001c0001t0003g0016 a0001c0001t0004g0048 a0001c0001t0011g0056 a0001c0001t0028g0059	5	68	0.0735	24	c.61+ others(43): Show c.61+284700_61+284723dupGAAAGAAAGAAAGAAAGAAAGAAA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133289594	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0053 a0001c0001t0026g0053	1	68	0.0147	24	c.61+ others(43): Show c.61+242646_61+242669dupTTTTTTTTTTTTTTTTTTTTTTTT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133377612	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	68	0.0147	24	c.61+ others(43): Show c.61+154651_61+154652insTTTTTTTTTTTTTTTTTTTTTTTT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133422377	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01255.hp1 others(5): Show HG01071.hp1 HG01071.hp2 HG01255.hp1 HG01516.hp1 HG01884.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0011 a0001c0001t0002g0022 a0001c0001t0003g0024 others(5): Show a0001c0001t0001g0011 a0001c0001t0002g0022 a0001c0001t0003g0024 a0001c0001t0003g0050 a0001c0001t0004g0018 a0001c0001t0006g0037 a0001c0001t0007g0040 a0001c0001t0012g0063	8	68	0.1177	24	c.61+ others(43): Show c.61+109886_61+109887insTATATATATATATATATATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133422377	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03130.hp2 NA20129.hp2 HG01978.hp1 HG03130.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0019 a0001c0001t0006g0005 a0001c0001t0010g0061 a0001c0001t0002g0019 a0001c0001t0006g0005 a0001c0001t0010g0061	3	68	0.0441	24	c.61+ others(43): Show c.61+109886_61+109887insTATATATATATATATATATATAAA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133483311	C C	CAGATAGA others(17): Show CAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02451.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0044 a0001c0001t0009g0064 a0001c0001t0003g0044 a0001c0001t0009g0064	2	68	0.0294	24	c.61+ others(41): Show c.61+48929_61+48952dupATCTATCTATCTATCTATCTATCT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68038064	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03492.hp1 HG02257.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0081 a0001c0001t0008g0096 a0001c0001t0003g0081 a0001c0001t0008g0096	2	155	0.0129	24	c.90 others(35): Show c.9084_*9107dupTTCTTTCTTTCTTTCTTTCTTTCT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding		4279		chrX	TogoVar
OPHN1_chrX_68037344_68438495	68125930	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG03098.hp1 others(2): Show HG02109.hp2 HG02965.hp1 HG03098.hp1 HG04199.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0131 others(2): Show a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0003g0063	5	155	0.0323	24	c.127 others(43): Show c.1277-6622_1277-6599dupATATATATATATATATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	15/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68125954	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG01515.hp1 others(8): Show HG01069.hp1 HG01256.hp1 HG01515.hp1 HG02135.hp1 HG02698.hp1 NA18944.hp1 NA18966.hp1 NA18977.hp1 NA19009.hp1 NA19066.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0039 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0145	11	155	0.0710	24	c.127 others(43): Show c.1277-6623_1277-6622insGTATATATATATATATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	15/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68287156	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01891.hp1 HG01891.hp2 others(7): Show HG00642.hp1 HG01891.hp1 HG01891.hp2 HG02258.hp1 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp1 HG03225.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0071 a0001c0001t0002g0124 a0001c0001t0002g0126 others(7): Show a0001c0001t0001g0071 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0003g0139 a0001c0001t0004g0117 a0001c0001t0005g0107 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0006g0013	10	155	0.0645	24	c.251 others(41): Show c.251-4063_251-4040dupTTTCTTTCTTTCTTTCTTTCTTTC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	3/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317338	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02258.hp1 others(1): Show HG01081.hp1 HG01891.hp1 HG02258.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0022	a0001c0001t0001g0145 a0001c0001t0002g0133 a0001c0001t0003g0139 others(1): Show a0001c0001t0001g0145 a0001c0001t0002g0133 a0001c0001t0003g0139 a0001c0001t0022g0103	4	155	0.0258	24	c.155 others(43): Show c.155-18266_155-18243dupTTTCTTTCTTTCTTTCTTTCTTTC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317376	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0056 a0001c0001t0026g0056	1	155	0.0065	24	c.155 others(43): Show c.155-18281_155-18280insCCTTTCTTTCTTTCTTTCTTTCTT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317376	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	155	0.0065	24	c.155 others(43): Show c.155-18281_155-18280insCCTTCCTTTCTTTCTTTCTTTCTT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68350484	C C	CTTCCTCC others(17): Show CTTCCTCCTTTCCTCCTTTCCTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0099 a0001c0001t0020g0099	1	155	0.0065	24	c.155 others(43): Show c.155-51389_155-51388insAGGAGGAAAGGAGGAAAGGAGGAA	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPN1SW_chr7_128767485_128780794	128768847	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA21309.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0001g0007 a0001c0001t0001g0037	2	388	0.0052	24	c.36 others(35): Show c.3692_*3693insTTTTTTTTTTTTTTTTTTTTTTTT	OPN1SW	ENSG00000128617.3	transcript	ENST00000249389.3	protein_coding		3637		chr7	TogoVar
OPN5_chr6_47777032_47831381	47819336	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp2 HG01891.hp1 others(2): Show HG00673.hp1 HG01256.hp2 HG01891.hp1 HG02148.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0284 a0001c0001t0003g0050 a0001c0001t0003g0061 others(2): Show a0001c0001t0001g0284 a0001c0001t0003g0050 a0001c0001t0003g0061 a0001c0001t0003g0075 a0001c0001t0018g0290	5	322	0.0155	24	c.105 others(43): Show c.1057-4630_1057-4629insTATATATATATATATATATATATA	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPN5_chr6_47777032_47831381	47819379	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0056 a0001c0001t0027g0056	1	322	0.0031	24	c.105 others(43): Show c.1057-4583_1057-4582insTATATATATATATATATATATATA	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPN5_chr6_47777032_47831381	47831041	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02717.hp1 HG02970.hp1 others(1): Show HG02055.hp1 HG02717.hp1 HG02970.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 others(1): Show a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0066	4	322	0.0124	24	c.70 others(35): Show c.7050_*7051insCCTTCCTTCCTTCCTTCCTTCCTT	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding		4661		chr6	TogoVar
OPN5_chr6_47777032_47831381	47831133	C C	CTCTCTCT others(17): Show CTCTCTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	322	0.0031	24	c.71 others(35): Show c.7142_*7143insTCTCTCTTTCTTTCTTTCTTTCTT	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding		4753		chr6	TogoVar
OPN5_chr6_47777032_47831381	47831145	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	322	0.0031	24	c.71 others(35): Show c.7154_*7155insTCTTTCTTTCTTTCTTTCTTTCTC	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding		4765		chr6	TogoVar
OPRD1_chr1_28807170_28876267	28846846	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02132.hp1 NA18962.hp2 HG02080.hp2 HG02132.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0076 a0001c0001t0014 a0001c0002t0076	a0001c0001t0014g0134 a0001c0001t0014g0137 a0001c0002t0076g0144 a0001c0001t0014g0134 a0001c0001t0014g0137 a0001c0002t0076g0144	3	304	0.0099	24	c.228 others(43): Show c.228-12106_228-12105insCTTTCTTTCTTTCTTTTCTTTCTT	OPRD1	ENSG00000116329.12	transcript	ENST00000234961.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OPRD1_chr1_28807170_28876267	28846846	T T	TTTCTTTC others(17): Show TTTCTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0200 a0001c0001t0044g0200	1	304	0.0033	24	c.228 others(43): Show c.228-12106_228-12105insCTTTCTTTTCTTTCTTTCTTTCTT	OPRD1	ENSG00000116329.12	transcript	ENST00000234961.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OPRK1_chr8_53220724_53256637	53234182	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03669.hp2 HG02976.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0082 a0001c0002t0002g0096 a0001c0001t0003g0082 a0001c0002t0002g0096	2	372	0.0054	24	c.610 others(39): Show c.610+576_610+577insTTTTTTTTTTTTTTTTTTTTTTTT	OPRK1	ENSG00000082556.14	transcript	ENST00000265572.8	protein_coding	3/3			chr8	TogoVar
OPRL1_chr20_64075082_64105633	64093586	T T	TCAGTGTG others(17): Show TCAGTGTGGGGGGTCAGTGTGGGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	66	0.0152	24	c.233 others(39): Show c.233+644_233+645insGTCAGTGTGGGGGCAGTGTGGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64093586	T T	TCAGTGTG others(17): Show TCAGTGTGGGGGTCAGTGTGGGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	66	0.0152	24	c.233 others(39): Show c.233+656_233+657insGCAGTGTGGGGGTCAGTGTGGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRM1_chr6_154034240_154137356	154107950	A A	ATATTTTA others(17): Show ATATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0028 a0003c0003t0011g0028	1	268	0.0037	24	c.116 others(45): Show c.1165-10732_1165-10731insATTTTATTTTATTTTATTTTATTT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154107953	T T	TTTTATTT others(17): Show TTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp1 NA20129.hp1 HG02258.hp1 HG02976.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0118 a0003c0003t0011 a0001c0001t0118 a0003c0003t0011	a0001c0001t0118g0189 a0003c0003t0011g0030 a0003c0003t0011g0033 a0001c0001t0118g0189 a0003c0003t0011g0030 a0003c0003t0011g0033	3	268	0.0112	24	c.116 others(45): Show c.1165-10727_1165-10726insATTTTATTTTATTTTATTTTATTT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPTN_chr10_13095163_13143308	13103742	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0380 a0001c0001t0010g0275 a0001c0001t0001g0380 a0001c0001t0010g0275	2	418	0.0048	24	c.-16 others(43): Show c.-164+3443_-164+3466dupCACACACACACACACACACACACA	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13114762	A A	ATATATAA others(17): Show ATATATAATTATATAATTATATAAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	418	0.0024	24	c.553 others(41): Show c.553-1490_553-1467dupATTATATAATTATATAATTATATA	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115209	T T	TTATATAT others(17): Show TTATATATATATTTATATATAGATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0131 a0001c0013t0001g0131	1	418	0.0024	24	c.553 others(41): Show c.553-1054_553-1031dupATATATATTTATATATAGATATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar

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