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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
NXN_chr17_794310_984776	949373	G G	GCGGCCTC others(12): Show GCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19004.hp1 HG01099.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0108 a0001c0001t0014g0113 a0001c0001t0005g0108 a0001c0001t0014g0113	2	242	0.0083	19	c.360 others(38): Show c.360+29945_360+29946insGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949394	G G	GGCCTCCT others(12): Show GGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	242	0.0041	19	c.360 others(38): Show c.360+29924_360+29925insAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949413	G G	GGCCTCCT others(12): Show GGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	242	0.0041	19	c.360 others(38): Show c.360+29887_360+29905dupAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949451	T T	TGCCTCCT others(12): Show TGCCTCCTCCTCTCCCCCCG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	242	0.0041	19	c.360 others(38): Show c.360+29867_360+29868insCGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949527	G G	GGCCCTCC others(12): Show GGCCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	242	0.0041	19	c.360 others(38): Show c.360+29791_360+29792insAGGGGGAGAGGAGGAGGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949544	C C	CTGCCTCC others(12): Show CTGCCTCCTCCTCTCCCCCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	242	0.0041	19	c.360 others(38): Show c.360+29774_360+29775insCGGGGGAGAGGAGGAGGCA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949563	G G	GCAGCCTC others(12): Show GCAGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0174 a0001c0001t0011g0174	1	242	0.0041	19	c.360 others(38): Show c.360+29755_360+29756insGGGGGAGAGGAGGAGGCTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949563	G G	GCGGCCTC others(12): Show GCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01358.hp1 HG01884.hp1 others(5): Show HG01192.hp2 HG01358.hp1 HG01884.hp1 HG02056.hp2 HG02723.hp2 HG03041.hp2 HG03669.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0021 a0001c0002t0032 a0001c0004t0002	a0001c0001t0001g0125 a0001c0001t0002g0081 a0001c0001t0003g0027 others(5): Show a0001c0001t0001g0125 a0001c0001t0002g0081 a0001c0001t0003g0027 a0001c0001t0003g0175 a0001c0001t0006g0156 a0001c0001t0021g0019 a0001c0002t0032g0242 a0001c0004t0002g0232	8	242	0.0331	19	c.360 others(38): Show c.360+29755_360+29756insGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949584	G G	GGCCTCCT others(12): Show GGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG01099.hp2 others(4): Show HG00323.hp2 HG00735.hp1 HG01099.hp2 HG01975.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 others(4): Show a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0136 a0001c0001t0002g0191 a0001c0001t0003g0181 a0001c0001t0005g0108	7	242	0.0289	19	c.360 others(38): Show c.360+29716_360+29734dupAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949601	C C	CCTGCCTC others(12): Show CCTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02735.hp2 HG03704.hp1 HG02258.hp1 HG02735.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 a0001c0001t0001 a0001c0001t0002 a0001c0001t0031	a0001c0001t0001g0230 a0001c0001t0002g0214 a0001c0001t0031g0238 a0001c0001t0001g0230 a0001c0001t0002g0214 a0001c0001t0031g0238	3	242	0.0124	19	c.360 others(38): Show c.360+29699_360+29717dupCGGGGAGAGGAGGAGGCAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949620	G G	GCGGCCTC others(12): Show GCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	242	0.0041	19	c.360 others(38): Show c.360+29680_360+29698dupGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPH1_chr7_8428609_8757961	8483965	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02717.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0181 a0001c0001t0003g0049 a0001c0001t0005g0162 a0001c0001t0001g0181 a0001c0001t0003g0049 a0001c0001t0005g0162	3	208	0.0144	19	c.54+ others(36): Show c.54+48215_54+48216insTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8678928	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01975.hp1 HG03834.hp1 others(2): Show HG00621.hp1 HG01975.hp1 HG03834.hp1 HG06807.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0002g0089 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0002g0089 a0001c0001t0006g0194 a0001c0002t0001g0195	5	208	0.0240	19	c.55- others(36): Show c.55-72063_55-72045dupTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8756316	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	208	0.0048	19	c.45 others(30): Show c.4547_*4548insTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding		3356		chr7	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01515.hp2 HG01517.hp1 others(6): Show HG01167.hp2 HG01515.hp2 HG01517.hp1 HG02004.hp1 HG02615.hp2 HG02895.hp2 NA18949.hp1 NA18961.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0298 a0001c0001t0003g0114 a0001c0001t0003g0268 others(5): Show a0001c0001t0001g0298 a0001c0001t0003g0114 a0001c0001t0003g0268 a0001c0002t0001g0005 a0001c0002t0001g0194 a0001c0002t0001g0222 a0001c0002t0001g0248 a0001c0002t0001g0269	9	350	0.0257	19	c.52- others(36): Show c.52-35430_52-35429insTTTTTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225704811	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0175 a0001c0002t0013g0175	1	192	0.0052	19	c.62 others(30): Show c.6267_*6268insAAAAAAAAAAAAAAAAAAA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding		1158		chr2	TogoVar
OAS2_chr12_112973519_113016723	113011715	A A	AGTAAAAG others(12): Show AGTAAAAGATGTATTGTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0135 a0001c0001t0019g0135	1	380	0.0026	19	c.24 others(30): Show c.2463_*2464insAAAGATGTATTGTAGGGTA	OAS2	ENSG00000111335.14	transcript	ENST00000392583.7	protein_coding	10/10	2464	INFO_REALIGN_3_PRIME	chr12	TogoVar
OAS3_chr12_112933474_112978251	112934536	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0008	1	370	0.0027	19	c.-39 others(30): Show c.-3995_-3994insAAGAAAGAAAGAAAGAAAG	OAS3	ENSG00000111331.14	transcript	ENST00000228928.12	protein_coding		3937		chr12	TogoVar
OASL_chr12_121014111_121044246	121016616	T T	TTGGGGAT others(12): Show TTGGGGATACCAGGTGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG02572.hp2 others(1): Show HG01099.hp2 HG01109.hp2 HG02572.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0056 a0001c0001t0007g0058 others(1): Show a0001c0001t0007g0008 a0001c0001t0007g0056 a0001c0001t0007g0058 a0001c0001t0007g0063	4	390	0.0103	19	c.39 others(30): Show c.3944_*3945insTTCCCACCTGGTATCCCCA	OASL	ENSG00000135114.14	transcript	ENST00000257570.10	protein_coding		2494		chr12	TogoVar
OBI1_chr13_78609289_78664155	78659290	T T	TGAATGAA others(12): Show TGAATGAATGAATGAATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18957.hp1 NA19080.hp2 others(1): Show NA18940.hp2 NA18957.hp1 NA19080.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0226 a0001c0001t0002g0229 others(1): Show a0001c0001t0002g0028 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0249	4	296	0.0135	19	c.-17 others(28): Show c.-171_-170insTTCATTCATTCATTCATTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		136		chr13	TogoVar
OBSCN_chr1_228203044_228383876	228287391	G G	GACCTCAT others(12): Show GACCTCATTTGACCTTACTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp1 HG03098.hp1 HG03453.hp1	a0043 a0043	a0043c0023 a0043c0023	a0043c0023t0001 a0043c0023t0001	a0043c0023t0001g0173 a0043c0023t0001g0174 a0043c0023t0001g0173 a0043c0023t0001g0174	2	320	0.0063	19	c.108 others(38): Show c.10832-302_10832-284dupACCTCATTTGACCTTACTT	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	40/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
ODAD2_chr10_27807168_28004079	27820777	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp2 HG01099.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0010t0001 a0001c0001t0004 a0001c0010t0001	a0001c0001t0004g0248 a0001c0010t0001g0201 a0001c0001t0004g0248 a0001c0010t0001g0201	2	304	0.0066	19	c.302 others(38): Show c.3022-8171_3022-8153dupAAAAAAAAAAAAAAAAAAA	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	19/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27952074	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01928.hp1 HG03130.hp2 others(2): Show HG01255.hp2 HG01928.hp1 HG03130.hp2 HG03540.hp2 NA19012.hp1	a0001 a0009 a0021 a0001 a0009 a0021	a0001c0002 a0009c0028 a0021c0039 a0001c0002 a0009c0028 a0021c0039	a0001c0002t0002 a0009c0028t0001 a0021c0039t0002 a0001c0002t0002 a0009c0028t0001 a0021c0039t0002	a0001c0002t0002g0033 a0001c0002t0002g0283 a0001c0002t0002g0295 others(2): Show a0001c0002t0002g0033 a0001c0002t0002g0283 a0001c0002t0002g0295 a0009c0028t0001g0191 a0021c0039t0002g0296	5	304	0.0165	19	c.138 others(38): Show c.1387-7113_1387-7112insTTTTTTTTTTTTTTTTTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	10/19			chr10	TogoVar
ODAD4_chr17_41925617_41971503	41960348	T T	TGAGGCAG others(12): Show TGAGGCAGGAGAATGGCGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	340	0.0029	19	c.144 others(38): Show c.1444-1033_1444-1015dupGAGGCAGGAGAATGGCGTG	ODAD4	ENSG00000204815.10	transcript	ENST00000377540.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ODF2_chr9_128451006_128506292	128470014	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18953.hp1 HG03704.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0293 a0001c0001t0002g0069 a0001c0001t0001g0293 a0001c0001t0002g0069	2	346	0.0058	19	c.669 others(34): Show c.669+661_669+662insTATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470016	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	346	0.0029	19	c.669 others(34): Show c.669+663_669+664insTATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0111 a0007c0012t0002g0111	1	346	0.0029	19	c.669 others(34): Show c.669+666_669+667insAAAAAAATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19009.hp2 NA19004.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0100 a0001c0001t0002g0071 a0001c0001t0002g0100	2	346	0.0058	19	c.669 others(34): Show c.669+666_669+667insAAATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA19002.hp1 NA20905.hp1 HG03491.hp2 NA19002.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0117	3	346	0.0087	19	c.669 others(34): Show c.669+666_669+667insATATATATATATATATATA	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(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	346	0.0029	19	c.669 others(34): Show c.669+665_669+666insTATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20			chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	346	0.0029	19	c.226 others(36): Show c.2262-966_2262-965insAAATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	346	0.0029	19	c.226 others(36): Show c.2262-966_2262-965insATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	346	0.0029	19	c.226 others(36): Show c.2262-967_2262-966insTATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20			chr9	TogoVar
ODR4_chr1_186370838_186426375	186381332	C C	CTTCTTTT others(12): Show CTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0317 a0001c0001t0005g0318	2	410	0.0049	19	c.99+ others(34): Show c.99+1450_99+1451insCTTTTTTTTTTTTTTTTTT	ODR4	ENSG00000157181.16	transcript	ENST00000287859.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ODR4_chr1_186370838_186426375	186402234	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	410	0.0024	19	c.100 others(38): Show c.1000+3190_1000+3191insTTTCTTTCTTTCTTTCTTT	ODR4	ENSG00000157181.16	transcript	ENST00000287859.11	protein_coding	11/13			chr1	TogoVar
OGDH_chr7_44601627_44714066	44669145	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp1 HG02572.hp2 others(5): Show HG01358.hp1 HG01884.hp1 HG02572.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG06807.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001	a0001c0001t0002g0100 a0001c0002t0001g0222 a0001c0002t0001g0249 others(5): Show a0001c0001t0002g0100 a0001c0002t0001g0222 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0002c0003t0001g0111	8	306	0.0261	19	c.633 others(36): Show c.633+2301_633+2319dupTTTTTTTTTTTTTTTTTTT	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(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp2 HG02055.hp2 others(26): Show HG00558.hp2 HG02040.hp2 HG02055.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp2 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18980.hp2 NA18982.hp1 NA19068.hp1 NA19082.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0014	a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0036 others(26): Show a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0088 a0001c0002t0001g0135 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0001g0166 a0001c0002t0001g0169 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0263 a0001c0002t0013g0006 a0001c0002t0014g0087	29	306	0.0948	19	c.263 others(38): Show c.2633-2173_2633-2155dupTTTTTTTTTTTTTTTTTTT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACAAAAA others(12): Show CACAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02559.hp1 HG02698.hp2 others(2): Show HG00408.hp2 HG02559.hp1 HG02698.hp2 NA18955.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0013 a0001c0001t0002 a0001c0002t0002 a0001c0002t0013	a0001c0001t0002g0226 a0001c0002t0002g0059 a0001c0002t0002g0074 others(2): Show a0001c0001t0002g0226 a0001c0002t0002g0059 a0001c0002t0002g0074 a0001c0002t0002g0082 a0001c0002t0013g0070	5	430	0.0116	19	c.41 others(30): Show c.4147_*4148insACAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACACAAA others(12): Show CACACAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18906.hp1 HG03942.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0080 a0001c0002t0002g0072 a0001c0001t0002g0080 a0001c0002t0002g0072	2	430	0.0047	19	c.41 others(30): Show c.4147_*4148insACACAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD3_chr17_82384210_82423586	82401803	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp2 HG01257.hp2 others(5): Show HG01081.hp2 HG01256.hp2 HG01257.hp2 HG01952.hp1 HG02273.hp1 HG02735.hp2 HG03486.hp1 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0002c0007 others(1): Show a0001c0001 a0002c0005 a0002c0007 a0003c0008	a0001c0001t0010 a0002c0005t0002 a0002c0007t0003 others(1): Show a0001c0001t0010 a0002c0005t0002 a0002c0007t0003 a0003c0008t0002	a0001c0001t0010g0146 a0002c0005t0002g0286 a0002c0007t0003g0056 others(5): Show a0001c0001t0010g0146 a0002c0005t0002g0286 a0002c0007t0003g0056 a0002c0007t0003g0057 a0003c0008t0002g0034 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0037	8	348	0.0230	19	c.699 others(36): Show c.699+2115_699+2133dupTTTTTTTTTTTTTTTTTTT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	7/8			chr17	TogoVar
OGFOD3_chr17_82384210_82423586	82401807	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02897.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0046 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0046	3	348	0.0086	19	c.699 others(36): Show c.699+2129_699+2130insGTTTTGTTTTTTTTTTTTT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	7/8			chr17	TogoVar
OIP5_chr15_41304273_41337591	41336655	T T	TTGTTTTT others(12): Show TTGTTTTTTTTGTTTGTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	356	0.0028	19	c.-40 others(30): Show c.-4095_-4094insCAAACAAACAAAAAAAACA	OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding		4065		chr15	TogoVar
OIP5_chr15_41304273_41337591	41336655	T T	TTGTTTTT others(12): Show TTGTTTTTTTTTTTTGTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00642.hp2 others(26): Show HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01975.hp2 HG02055.hp1 HG02300.hp1 HG02602.hp1 HG02723.hp1 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp2 NA19060.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229	29	356	0.0815	19	c.-40 others(30): Show c.-4095_-4094insCAAACAAAAAAAAAAAACA	OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding		4065		chr15	TogoVar
OLA1_chr2_174067447_174253532	174144951	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0051 a0001c0001t0013g0051	1	262	0.0038	19	c.374 others(36): Show c.374-2952_374-2951insATATATATATATTTTTTTT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10			chr2	TogoVar
OLFM1_chr9_135082668_135126180	135118964	A A	AGTGCTTT others(12): Show AGTGCTTTCTGGGTCTTTGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	360	0.0028	19	c.784 others(34): Show c.784-540_784-539insGTGCTTTCTGGGTCTTTGG	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	5/5			chr9	TogoVar
OLFM2_chr19_9848718_9941515	9908464	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0238 a0001c0006t0001g0238	1	342	0.0029	19	c.63+ others(36): Show c.63+27821_63+27839dupAAAAAAAAAAAAAAAAAAA	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OLFM3_chr1_101797560_102001926	101967590	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03139.hp2 HG03516.hp1 HG02056.hp2 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0009t0003 a0001c0001t0001 a0001c0001t0002 a0001c0009t0003	a0001c0001t0001g0150 a0001c0001t0002g0186 a0001c0009t0003g0291 a0001c0001t0001g0150 a0001c0001t0002g0186 a0001c0009t0003g0291	3	306	0.0098	19	c.69+ others(36): Show c.69+29139_69+29157dupTTTTTTTTTTTTTTTTTTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFM3_chr1_101797560_102001926	101991016	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	306	0.0033	19	c.69+ others(34): Show c.69+5731_69+5732insATATATATATATTTTTTTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFML2A_chr9_124772133_124819882	124784943	G G	GTTTTTTT others(12): Show GTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0174 a0004c0004t0001g0174	1	380	0.0026	19	c.91- others(34): Show c.91-2024_91-2023insGTTTTTTTTTTTTTTTTTT	OLFML2A	ENSG00000185585.20	transcript	ENST00000373580.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFML2B_chr1_161978192_162028869	162022260	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0333 a0004c0006t0003g0333	1	384	0.0026	19	c.174 others(34): Show c.174+996_174+997insGAAAAAAAAAAAAAAAAAA	OLFML2B	ENSG00000162745.11	transcript	ENST00000294794.8	protein_coding	1/7			chr1	TogoVar

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