Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ODF2_chr9_128451006_128506292	128470018	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	346	0.0029	25	c.669 others(40): Show c.669+666_669+667insAAATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA18956.hp1 HG01256.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0314 a0001c0001t0004g0196 a0001c0001t0001g0314 a0001c0001t0004g0196	2	346	0.0058	25	c.669 others(40): Show c.669+665_669+666insTATATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128497444	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	346	0.0029	25	c.226 others(42): Show c.2262-969_2262-968insTATATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	346	0.0029	25	c.226 others(42): Show c.2262-966_2262-965insAAATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF3L2_chr19_458361_479983	477514	G G	GTGGAGGT others(18): Show GTGGAGGTTGCACCACTGAGCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	324	0.0031	25	c.-27 others(36): Show c.-2768_-2767insTCCTGGCTCAGTGGTGCAACCTCCA	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		2532		chr19	TogoVar
ODF3_chr11_191761_205258	196113	C C	CTGGTGAG others(18): Show CTGGTGAGGGGACATGGGGGGGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG02970.hp1 others(2): Show HG01884.hp2 HG02723.hp1 HG02970.hp1 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	5	388	0.0129	25	c.-94 others(34): Show c.-942_-941insTGGTGAGGGGACATGGGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		647		chr11	TogoVar
OGDH_chr7_44601627_44714066	44669145	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	306	0.0033	25	c.633 others(42): Show c.633+2295_633+2319dupTTTTTTTTTTTTTTTTTTTTTTTTT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGDH_chr7_44601627_44714066	44705051	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	306	0.0033	25	c.263 others(44): Show c.2633-2155_2633-2154insTTTTTTTTTTTTTTTTTTTTTTTTT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	430	0.0023	25	c.41 others(36): Show c.4147_*4148insAAAAAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACACAAA others(18): Show CACACAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA18747.hp2 NA18980.hp2 HG01109.hp1 NA18747.hp2 NA18980.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0002 a0001c0002t0030 a0003c0006t0002 a0001c0002t0002 a0001c0002t0030 a0003c0006t0002	a0001c0002t0002g0020 a0001c0002t0030g0020 a0003c0006t0002g0083 a0001c0002t0002g0020 a0001c0002t0030g0020 a0003c0006t0002g0083	3	430	0.0070	25	c.41 others(36): Show c.4147_*4148insACACAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD3_chr17_82384210_82423586	82388876	A A	AGAACCCC others(18): Show AGAACCCCTCCCCGGAACCCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG03209.hp1 others(1): Show HG02109.hp1 HG02647.hp1 HG03209.hp1 HG03471.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0001c0004 a0008c0015 a0001c0003 a0001c0004 a0008c0015	a0001c0003t0010 a0001c0003t0030 a0001c0004t0010 others(1): Show a0001c0003t0010 a0001c0003t0030 a0001c0004t0010 a0008c0015t0010	a0001c0003t0010g0066 a0001c0003t0030g0065 a0001c0004t0010g0068 others(1): Show a0001c0003t0010g0066 a0001c0003t0030g0065 a0001c0004t0010g0068 a0008c0015t0010g0317	4	348	0.0115	25	c.35 others(36): Show c.3521_*3522insCGGGGAGGGTTCCGGGGAGGGGTTC	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		333		chr17	TogoVar
OGFOD3_chr17_82384210_82423586	82401803	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01069.hp1 others(10): Show HG00323.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01943.hp2 HG01952.hp2 HG02074.hp1 HG02273.hp2 HG04115.hp1 HG04199.hp1 NA18980.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0004t0002 a0001c0004t0012	a0001c0001t0001g0265 a0001c0001t0003g0237 a0001c0001t0003g0309 others(9): Show a0001c0001t0001g0265 a0001c0001t0003g0237 a0001c0001t0003g0309 a0001c0003t0002g0014 a0001c0003t0002g0151 a0001c0003t0002g0194 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0276 a0001c0004t0002g0113 a0001c0004t0002g0316 a0001c0004t0012g0115	13	348	0.0374	25	c.699 others(42): Show c.699+2133_699+2134insTTTTTTTTTTTTTTTTTTTTTTTTT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	7/8			chr17	TogoVar
OLFM1_chr9_135082668_135126180	135124656	G G	GAAAGAAA others(18): Show GAAAGAAAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 NA18998.hp2 HG01952.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0003 a0001c0001t0020 a0001c0002t0003	a0001c0001t0020g0176 a0001c0002t0003g0222 a0001c0001t0020g0176 a0001c0002t0003g0222	2	360	0.0056	25	c.44 others(36): Show c.4478_*4479insAAAGAAAGAGAGAGAGAGAGAGAGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3477		chr9	TogoVar
OLFM1_chr9_135082668_135126180	135124684	G G	GAAGAAAG others(18): Show GAAGAAAGAAGAAAGAAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	360	0.0028	25	c.45 others(36): Show c.4506_*4507insAAGAAAGAAGAAAGAAAGAAGAAGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3505		chr9	TogoVar
OLFML2A_chr9_124772133_124819882	124784943	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0154 a0001c0001t0036g0154	1	380	0.0026	25	c.91- others(40): Show c.91-2028_91-2004dupTTTTTTTTTTTTTTTTTTTTTTTTT	OLFML2A	ENSG00000185585.20	transcript	ENST00000373580.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFML2A_chr9_124772133_124819882	124787522	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG02976.hp2 others(5): Show HG00639.hp1 HG02451.hp1 HG02976.hp2 HG03453.hp1 HG03516.hp2 HG06807.hp1 NA18906.hp1 NA18981.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0015	a0001c0001 a0004c0004 a0006c0019 others(1): Show a0001c0001 a0004c0004 a0006c0019 a0015c0018	a0001c0001t0002 a0001c0001t0033 a0004c0004t0028 others(2): Show a0001c0001t0002 a0001c0001t0033 a0004c0004t0028 a0006c0019t0001 a0015c0018t0002	a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0352 others(5): Show a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0033g0237 a0004c0004t0028g0356 a0006c0019t0001g0293 a0015c0018t0002g0183	8	380	0.0211	25	c.354 others(40): Show c.354+308_354+332dupTATTTTATTTTATTTTATTTTATTT	OLFML2A	ENSG00000185585.20	transcript	ENST00000373580.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
OMA1_chr1_58475719_58551726	58518272	G G	GGGGAGAG others(18): Show GGGGAGAGGGGAGAGGGGAGAGGGGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19076.hp2 NA19007.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0177 a0001c0001t0001g0128 a0001c0001t0001g0177	2	384	0.0052	25	c.121 others(44): Show c.1215+8988_1215+8989insTCCCCTCTCCCCTCTCCCCTCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518277	G G	GAGGGGAG others(18): Show GAGGGGAGAGGGGAGAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19075.hp1 NA18966.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0199 a0001c0001t0004g0203 a0001c0001t0001g0199 a0001c0001t0004g0203	2	384	0.0052	25	c.121 others(44): Show c.1215+8983_1215+8984insTCCTCTCCCCTCTCCCCTCTCCCCT	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518296	A A	AGGGGAGA others(18): Show AGGGGAGAGGGGAGAGGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	384	0.0026	25	c.121 others(44): Show c.1215+8964_1215+8965insCCCCTCTCCCCTCTCCCCTCTCCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518299	A A	AGAAGGGA others(18): Show AGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0054 a0008c0013t0001g0054	1	384	0.0026	25	c.121 others(44): Show c.1215+8961_1215+8962insCCTTCCCTTCCCTTCCCTTCCCTTC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMP_chr11_77097840_77108331	77099402	G G	GAGCCGAG others(18): Show GAGCCGAGATCACGCCACTGCACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18992.hp2 NA18956.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	2	440	0.0046	25	c.-34 others(36): Show c.-3438_-3437insAGCCGAGATCACGCCACTGCACTCC	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		3437		chr11	TogoVar
ONECUT3_chr19_1748506_1785988	1748774	G G	GCAGGGAG others(18): Show GCAGGGAGGGCGCTCAGGTGGTTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0159 a0001c0001t0159	a0001c0001t0159g0094 a0001c0001t0159g0094	1	370	0.0027	25	c.-48 others(36): Show c.-4889_-4888insCAGGGAGGGCGCTCAGGTGGTTTAA	ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding		4731		chr19	TogoVar
OPA1_chr3_193588208_193702811	193596306	T T	TTTTCCTT others(18): Show TTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(50): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG01069.hp1 HG01071.hp2 HG01346.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02818.hp2 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 NA18939.hp2 NA18943.hp2 NA18947.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18984.hp2 NA18989.hp2 NA18995.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19075.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0022 a0001c0003t0003	a0001c0001t0002g0251 a0001c0001t0002g0260 a0001c0001t0002g0272 others(50): Show a0001c0001t0002g0251 a0001c0001t0002g0260 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0359 a0001c0001t0010g0250 a0001c0001t0010g0276 a0001c0001t0010g0277 a0001c0001t0010g0283 a0001c0001t0022g0349 a0001c0003t0003g0336	53	388	0.1366	25	c.32+ others(40): Show c.32+2906_32+2930dupCCTTTCCTTTCCTTTCCTTTCCTTT	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
OPA1_chr3_193588208_193702811	193596306	T T	TTTTCTTT others(18): Show TTTTCTTTTCTTTTCTTTTCTTTTCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0229 a0002c0002t0007g0229	1	388	0.0026	25	c.32+ others(40): Show c.32+2901_32+2902insTTTTCTTTTCTTTTCTTTTCCTTTC	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
OPA1_chr3_193588208_193702811	193596335	C C	CCTTTCCT others(18): Show CCTTTCCTTTCCTTTCCTTTCCTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0377 a0001c0001t0002g0377	1	388	0.0026	25	c.32+ others(40): Show c.32+2930_32+2931insCCTTTCCTTTCCTTTCCTTTTCTTT	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(18): Show ATACAATACAATACAATACAATACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG03098.hp1 NA18522.hp1 HG02602.hp1 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0048 a0001c0001t0003g0122 a0001c0001t0017g0080 a0001c0001t0003g0048 a0001c0001t0003g0122 a0001c0001t0017g0080	3	402	0.0075	25	c.-30 others(36): Show c.-3051_-3050insCTGTATTGTATTGTATTGTATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(18): Show ATACAATACAATACAATACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02109.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0001 a0001c0001t0031g0187 a0001c0001t0001g0001 a0001c0001t0031g0187	2	402	0.0050	25	c.-30 others(36): Show c.-3051_-3050insCTGTACTGTATTGTATTGTATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(18): Show ATACAATACAATACAGTACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG02647.hp1 others(1): Show HG00558.hp2 HG00738.hp2 HG02647.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0006g0152	4	402	0.0100	25	c.-30 others(36): Show c.-3051_-3050insCTGTACTGTACTGTATTGTATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(18): Show ATACAATACAGTACAGTACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02602.hp2 HG02818.hp1 others(3): Show HG01496.hp2 HG02602.hp2 HG02818.hp1 HG03710.hp1 NA18964.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0057 a0001c0001t0001g0147 a0001c0001t0002g0006 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0147 a0001c0001t0002g0006 a0001c0001t0002g0053 a0001c0001t0003g0005	6	402	0.0149	25	c.-30 others(36): Show c.-3051_-3050insCTGTACTGTACTGTACTGTATTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAGTA others(18): Show ATACAGTACAGTACAGTACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	402	0.0025	25	c.-30 others(36): Show c.-3051_-3050insCTGTACTGTACTGTACTGTACTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(18): Show GTACAGTACAATACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02015.hp1 NA19009.hp1 HG01952.hp2 HG02015.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0056	3	402	0.0075	25	c.-30 others(36): Show c.-3081_-3080insTTGTATTGTATTGTATTGTACTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2975		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(18): Show GTACAGTACAGTACAATACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01257.hp1 HG02523.hp2 others(17): Show HG00408.hp2 HG01257.hp1 HG02523.hp2 HG03710.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18983.hp2 NA18994.hp1 NA19001.hp2 NA19012.hp2 NA19054.hp1 NA19076.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0001c0001t0001 a0001c0001t0002 a0001c0001t0027	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0002g0063 a0001c0001t0002g0199 a0001c0001t0002g0211 a0001c0001t0027g0164	20	402	0.0498	25	c.-30 others(36): Show c.-3081_-3080insTTGTATTGTATTGTACTGTACTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2975		chr10	TogoVar
OPALIN_chr10_96338221_96364002	96361976	G G	GTACAGTA others(18): Show GTACAGTACAGTACAGTACAATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00673.hp1 others(23): Show HG00423.hp1 HG00544.hp2 HG00673.hp1 HG00733.hp2 HG01106.hp2 HG01192.hp1 HG01515.hp1 HG01516.hp1 HG01943.hp1 HG02004.hp1 HG02071.hp1 HG02735.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03834.hp2 HG04228.hp2 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18956.hp1 NA18959.hp2 NA18965.hp1 NA18972.hp1 NA18977.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 a0001c0001t0029	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0135 a0001c0001t0001g0169 a0001c0001t0001g0202 a0001c0001t0006g0058 a0001c0001t0024g0162 a0001c0001t0029g0127	26	402	0.0647	25	c.-30 others(36): Show c.-3081_-3080insTTGTATTGTACTGTACTGTACTGTA	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2975		chr10	TogoVar
OPCML_chr11_132409981_133537501	132818660	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01516.hp1 others(7): Show HG01071.hp1 HG01109.hp1 HG01516.hp1 HG01884.hp1 HG01978.hp1 HG02145.hp1 HG02809.hp1 HG02976.hp1 HG03098.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0019	a0001c0001t0001g0013 a0001c0001t0002g0019 a0001c0001t0003g0024 others(7): Show a0001c0001t0001g0013 a0001c0001t0002g0019 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0004g0018 a0001c0001t0004g0027 a0001c0001t0005g0020 a0001c0001t0005g0023 a0001c0001t0011g0057 a0001c0001t0019g0051	10	68	0.1471	25	c.146 others(46): Show c.146+124265_146+124266insATATATATATATATATATATATAT A	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133247540	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	68	0.0147	25	c.61+ others(44): Show c.61+284723_61+284724insGAAAGAAAGAAAGAAAGAAAGAAAG	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133289594	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0068 a0001c0001t0012g0068	1	68	0.0147	25	c.61+ others(44): Show c.61+242669_61+242670insTTTTTTTTTTTTTTTTTTTTTTTTT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133377612	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03225.hp2 HG01071.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0022 a0001c0001t0021g0036 a0001c0001t0002g0022 a0001c0001t0021g0036	2	68	0.0294	25	c.61+ others(44): Show c.61+154651_61+154652insTTTTTTTTTTTTTTTTTTTTTTTTT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPN1SW_chr7_128767485_128780794	128768847	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02895.hp1 HG02129.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	388	0.0052	25	c.36 others(36): Show c.3692_*3693insTTTTTTTTTTTTTTTTTTTTTTTTT	OPN1SW	ENSG00000128617.3	transcript	ENST00000249389.3	protein_coding		3637		chr7	TogoVar
OPRK1_chr8_53220724_53256637	53234182	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0091 a0001c0002t0010g0091	1	372	0.0027	25	c.610 others(40): Show c.610+576_610+577insTTTTTTTTTTTTTTTTTTTTTTTTT	OPRK1	ENSG00000082556.14	transcript	ENST00000265572.8	protein_coding	3/3			chr8	TogoVar
OPTN_chr10_13095163_13143308	13126283	C C	CCTTTTTT others(18): Show CCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	418	0.0024	25	c.124 others(42): Show c.1242+244_1242+245insCTTTTTTTTTTTTTTTTTTTTTTTT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	11/14			chr10	TogoVar
OR10G2_chr14_21628836_21639940	21637221	A A	ATATATAT others(18): Show ATATATATACATATACATATACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	1	474	0.0021	25	c.-23 others(36): Show c.-2380_-2379insATATGTATATGTATATGTATATATA	OR10G2	ENSG00000255582.1	transcript	ENST00000542433.1	protein_coding		2282		chr14	TogoVar
OR10G2_chr14_21628836_21639940	21637221	A A	ATATATAT others(18): Show ATATATATACATATACATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01993.hp2 HG00639.hp1 HG01993.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0000 a0004c0004t0001g0000	2	474	0.0042	25	c.-23 others(36): Show c.-2380_-2379insATATATATATGTATATGTATATATA	OR10G2	ENSG00000255582.1	transcript	ENST00000542433.1	protein_coding		2282		chr14	TogoVar
OR10H2_chr19_15723024_15734052	15724396	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0000 a0001c0005t0001g0000	1	414	0.0024	25	c.-36 others(36): Show c.-3648_-3647insATATATATATATATATATATATATA	OR10H2	ENSG00000171942.5	transcript	ENST00000305899.5	protein_coding		3627		chr19	TogoVar
OR10H5_chr19_15782661_15805357	15784353	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0119 a0001c0006t0119	a0001c0006t0119g0007 a0001c0006t0119g0007	1	396	0.0025	25	c.-33 others(36): Show c.-3375_-3374insAAAAAAAAAAAAAAAAAAAAAAAAG	OR10H5	ENSG00000172519.10	transcript	ENST00000642092.2	protein_coding		3307		chr19	TogoVar
OR11H12_chr14_18596117_18607097	18598678	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 NA18942.hp1 NA19007.hp1 HG03654.hp1 NA18942.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	3	326	0.0092	25	c.-24 others(36): Show c.-2439_-2438insAAAAAAAAAAAAAAAAAAAAAAAAA	OR11H12	ENSG00000257115.2	transcript	ENST00000550708.2	protein_coding		2438		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20238255	T T	TAAATTTA others(18): Show TAAATTTATATATTTATATAGAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01243.hp2 HG01884.hp1 others(12): Show HG01069.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp1 NA18976.hp2 NA18983.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 a0001c0001 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0008t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0005 a0001c0009t0002	a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0001g0072 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0238 a0001c0001t0002g0013 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0101 a0001c0008t0005g0102 a0001c0009t0002g0069	15	439	0.0342	25	c.-10 others(36): Show c.-1088_-1087insAAATTTATATATTTATATAGAAATA	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1030		chr14	TogoVar
OR11L1_chr1_247835928_247846896	247840331	T T	TCCTCCTT others(18): Show TCCTCCTTCCTTTCCCTCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp1 others(10): Show HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01175.hp2 HG02698.hp2 HG04115.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA19007.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0000 a0001c0014t0000 a0001c0001t0000 a0001c0014t0000	a0001c0001t0000g0000 a0001c0014t0000g0000 a0001c0001t0000g0000 a0001c0014t0000g0000	13	394	0.0330	25	c.59 others(34): Show c.596_*597insGAGGGAGGGAGGGAAAGGAAGGAGG	OR11L1	ENSG00000197591.3	transcript	ENST00000355784.3	protein_coding		596		chr1	TogoVar
OR13D1_chr9_104689518_104700462	104696103	A A	AAGAAGAA others(18): Show AAGAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	396	0.0025	25	c.64 others(34): Show c.641_*642insAGAAGAAAGAAAGAAAGAAAGAAAG	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		642		chr9	TogoVar
OR13D1_chr9_104689518_104700462	104696103	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19079.hp2 NA19011.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0000 a0002c0002t0000 a0001c0001t0000 a0002c0002t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0001c0001t0000g0000 a0002c0002t0000g0000	2	396	0.0051	25	c.64 others(34): Show c.641_*642insGAAAGAAAGAAAGAAAGAAAGAAAG	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		642		chr9	TogoVar
OR13D1_chr9_104689518_104700462	104696107	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	396	0.0025	25	c.64 others(34): Show c.645_*646insAAAAGAAAGAAAGAAAGAAAGAAAG	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		646		chr9	TogoVar

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