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
NCOA3_chr20_47496887_47661872	47656887	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0019 a0002c0002t0009 a0002c0002t0019	a0002c0002t0009g0046 a0002c0002t0009g0059 a0002c0002t0019g0061 a0002c0002t0009g0046 a0002c0002t0009g0059 a0002c0002t0019g0061	3	316	0.0095	19	c.34 others(30): Show c.3470_*3471insTTTTTTTTTTTTTTTTTTT	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding		16		chr20	TogoVar
NCOA7_chr6_125785960_125937034	125805087	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	270	0.0037	19	c.-64 others(38): Show c.-64-10194_-64-10176dupTTTTTTTTTTTTTTTTTTT	NCOA7	ENSG00000111912.20	transcript	ENST00000392477.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
NCOA7_chr6_125785960_125937034	125840868	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0153 a0002c0002t0007g0153	1	270	0.0037	19	c.51- others(36): Show c.51-14128_51-14110dupTTTTTTTTTTTTTTTTTTT	NCOA7	ENSG00000111912.20	transcript	ENST00000392477.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
NCOR1_chr17_16024157_16220534	16092696	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0014 a0001c0011t0014	a0001c0011t0014g0280 a0001c0011t0014g0280	1	282	0.0036	19	c.282 others(36): Show c.2821-639_2821-638insTATATATATATATATATAT	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16140997	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG01169.hp1 others(2): Show HG01106.hp2 HG01168.hp1 HG01169.hp1 NA18995.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0003 a0001c0003t0003 a0001c0011t0014 a0001c0001t0003 a0001c0003t0003 a0001c0011t0014	a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0278 others(2): Show a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0278 a0001c0003t0003g0266 a0001c0011t0014g0280	5	282	0.0177	19	c.117 others(38): Show c.1174-1812_1174-1811insTTTTTTTTTTTTTTTTTTT	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	11/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16216786	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01168.hp1 HG01358.hp2 others(19): Show HG01123.hp1 HG01168.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01975.hp2 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02735.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp2 HG03704.hp2 NA18747.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18995.hp1 NA19057.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0003 a0001c0003t0023	a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 others(19): Show a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0185 a0001c0001t0002g0204 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0240 a0001c0001t0003g0264 a0001c0001t0003g0268 a0001c0001t0003g0277 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0001t0004g0267 a0001c0001t0007g0055 a0001c0003t0003g0274 a0001c0003t0023g0270	22	282	0.0780	19	c.-14 others(30): Show c.-1496_-1495insTTTTTTTTTTTTTTTTTTT	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding		1253		chr17	TogoVar
NCOR2_chr12_124319415_124572612	124467964	A A	ACCCCCCT others(12): Show ACCCCCCTCATCCTCATCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02055.hp1 HG02572.hp1	a0007 a0023 a0007 a0023	a0007c0126 a0023c0157 a0007c0126 a0023c0157	a0007c0126t0001 a0023c0157t0001 a0007c0126t0001 a0023c0157t0001	a0007c0126t0001g0107 a0023c0157t0001g0131 a0007c0126t0001g0107 a0023c0157t0001g0131	2	234	0.0086	19	c.592 others(36): Show c.592-1679_592-1678insGTGATGAGGATGAGGGGGG	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48			chr12	TogoVar
NCOR2_chr12_124319415_124572612	124468705	A A	ACCCCCCT others(12): Show ACCCCCCTCATCCTCATCAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0045 a0045	a0045c0076 a0045c0076	a0045c0076t0001 a0045c0076t0001	a0045c0076t0001g0150 a0045c0076t0001g0150	1	234	0.0043	19	c.592 others(36): Show c.592-2420_592-2419insGTGATGAGGATGAGGGGGG	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48			chr12	TogoVar
NCR1_chr19_54901148_54918073	54903985	G G	GCGTGGTG others(12): Show GCGTGGTGTTGGGTGTCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	457	0.0022	19	c.-22 others(30): Show c.-2203_-2202insCGTGGTGTTGGGTGTCTGT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		2162		chr19	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02132.hp1 HG03225.hp2 others(2): Show HG00099.hp1 HG02132.hp1 HG03225.hp2 HG03491.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0145	5	457	0.0109	19	c.34 others(30): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3245		chr19	TogoVar
NCR3LG1_chr11_17346800_17382341	17350376	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02717.hp2 NA20300.hp2 HG02572.hp1 HG02717.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0258 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0258	3	380	0.0079	19	c.-15 others(30): Show c.-1594_-1593insAAAAAAAAAAAAAAAAAAA	NCR3LG1	ENSG00000188211.9	transcript	ENST00000338965.9	protein_coding		1423		chr11	TogoVar
NCR3LG1_chr11_17346800_17382341	17352042	A A	AGGGGGCG others(12): Show AGGGGGCGGCTGGGGTGGGC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0044 a0002c0002t0003g0044	1	380	0.0026	19	c.70+ others(29): Show c.70+4_70+22dupGGGGGCGGCTGGGGTGGGC	NCR3LG1	ENSG00000188211.9	transcript	ENST00000338965.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCS1_chr9_130167404_130242303	130176195	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0192 a0001c0001t0192	a0001c0001t0192g0171 a0001c0001t0192g0171	1	348	0.0029	19	c.64+ others(34): Show c.64+3470_64+3471insCTTTCTTTCTTTCTTTCTT	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCSTN_chr1_160338383_160363949	160359170	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA19075.hp2 HG02976.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0066 a0001c0002t0001g0221 a0001c0001t0001g0066 a0001c0002t0001g0221	2	448	0.0045	19	c.89 others(28): Show c.899_*900insTTTTTTTTTTTTTTTTTTT	NCSTN	ENSG00000162736.18	transcript	ENST00000294785.10	protein_coding		222		chr1	TogoVar
NDC1_chr1_53760478_53843296	53825453	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG02895.hp2 others(6): Show HG00639.hp1 HG02451.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0003t0001g0005 a0001c0003t0001g0189	9	196	0.0459	19	c.594 others(34): Show c.594+344_594+345insTTTTTTTTTTTTTTTTTTT	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17			chr1	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	196	0.0051	19	c.594 others(34): Show c.594+337_594+338insCTTTTTTTTTTTTTTTTTT	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17			chr1	TogoVar
NDC1_chr1_53760478_53843296	53838758	T T	TTAGAGCT others(12): Show TTAGAGCTAGCAAAATGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02630.hp2 others(7): Show HG02145.hp2 HG02258.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 others(7): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188	10	196	0.0510	19	c.-49 others(28): Show c.-498_-497insGATCATTTTGCTAGCTCTA	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding		463		chr1	TogoVar
NDC80_chr18_2566557_2621635	2607979	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	402	0.0025	19	c.155 others(36): Show c.1558-720_1558-702dupTATATATATATATATATAT	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
NDE1_chr16_15645245_15731353	15705984	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01516.hp2 HG01496.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0164 a0001c0001t0005g0165	2	367	0.0055	19	c.947 others(36): Show c.947+9127_947+9145dupAAAAAAAAAAAAAAAAAAA	NDE1	ENSG00000072864.16	transcript	ENST00000396354.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
NDFIP1_chr5_142103779_142159440	142142936	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0181 a0001c0001t0008g0181	1	392	0.0026	19	c.563 others(36): Show c.563-1635_563-1634insTATATATATATATATATAT	NDFIP1	ENSG00000131507.11	transcript	ENST00000253814.6	protein_coding	6/7			chr5	TogoVar
NDFIP1_chr5_142103779_142159440	142142938	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0169 a0001c0001t0006g0169	1	392	0.0026	19	c.563 others(36): Show c.563-1633_563-1632insTATATATATATATATATAT	NDFIP1	ENSG00000131507.11	transcript	ENST00000253814.6	protein_coding	6/7			chr5	TogoVar
NDRG3_chr20_36646771_36751090	36712587	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	298	0.0034	19	c.58- others(34): Show c.58-5581_58-5580insAAAAAAAAATATATATATA	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	2/15			chr20	TogoVar
NDRG4_chr16_58495143_58518619	58505713	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0074 a0001c0002t0011g0074	1	426	0.0024	19	c.373 others(34): Show c.373-666_373-648dupTTTTTTTTTTTTTTTTTTT	NDRG4	ENSG00000103034.15	transcript	ENST00000570248.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NDST3_chr4_118029486_118263634	118235045	A A	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02148.hp2 others(8): Show HG01109.hp2 HG01884.hp1 HG02148.hp2 HG02451.hp2 HG02630.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 others(5): Show a0001c0001 a0001c0004 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0001c0018	a0001c0001t0020 a0001c0004t0002 a0001c0004t0019 others(7): Show a0001c0001t0020 a0001c0004t0002 a0001c0004t0019 a0001c0009t0003 a0001c0009t0021 a0001c0010t0003 a0001c0013t0003 a0001c0014t0003 a0001c0016t0003 a0001c0018t0003	a0001c0001t0020g0113 a0001c0004t0002g0198 a0001c0004t0019g0195 others(8): Show a0001c0001t0020g0113 a0001c0004t0002g0198 a0001c0004t0019g0195 a0001c0009t0003g0065 a0001c0009t0021g0067 a0001c0010t0003g0171 a0001c0010t0003g0213 a0001c0013t0003g0105 a0001c0014t0003g0021 a0001c0016t0003g0215 a0001c0018t0003g0071	11	216	0.0509	19	c.194 others(38): Show c.1943+1911_1943+1912insGGAAGGAAGGAAGGAAAGA	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST4_chr4_114822763_115118620	114986830	A A	ATATATAT others(12): Show ATATATATATATATATTATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	190	0.0053	19	c.979 others(36): Show c.979-9557_979-9556insAATAATATATATATATATA	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NDUFA11_chr19_5889675_5908790	5907610	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01255.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG01255.hp1 HG02683.hp1 NA18992.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0095 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0095 a0001c0001t0001g0096	6	364	0.0165	19	c.-39 others(30): Show c.-3921_-3903dupTTTTTTTTTTTTTTTTTTT	NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding		3821		chr19	TogoVar
NDUFA13_chr19_19511225_19533198	19531718	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	380	0.0026	19	c.35 others(30): Show c.3592_*3593insTTTTTTTTTTTTTTTTTTT	NDUFA13	ENSG00000186010.19	transcript	ENST00000507754.9	protein_coding		3521		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54099244	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	439	0.0023	19	c.-36 others(30): Show c.-3635_-3634insTTTTTTTTTTTTGTTTTTG	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		3610		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54105264	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	439	0.0023	19	c.86- others(32): Show c.86-670_86-669insCTTTTTTTTTTTTTTTTTT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding	2/3			chr19	TogoVar
NDUFA5_chr7_123531997_123562818	123540889	T T	TGCGCGCG others(12): Show TGCGCGCGCGCGCAGCGCGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0256 a0001c0001t0072g0256	1	414	0.0024	19	c.12 others(30): Show c.1229_*1230insGCGCGCTGCGCGCGCGCGC	NDUFA5	ENSG00000128609.16	transcript	ENST00000355749.7	protein_coding	5/5	1229		chr7	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19058.hp1 NA19081.hp2 NA19003.hp2 NA19058.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0178 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0178	3	360	0.0083	19	c.379 others(36): Show c.379+1062_379+1080dupTTTTTTTTTTTTTTTTTTT	NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4			chr16	TogoVar
NDUFAF1_chr15_41382353_41407496	41397575	G G	GGATCACG others(12): Show GGATCACGAGGTCAGGAAAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	354	0.0028	19	c.-81 others(34): Show c.-81-454_-81-436dupATTTCCTGACCTCGTGATC	NDUFAF1	ENSG00000137806.10	transcript	ENST00000260361.9	protein_coding	1/4			chr15	TogoVar
NDUFB11_chrX_47137216_47149702	47144446	A A	ACCCACCC others(12): Show ACCCACCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	274	0.0037	19	c.207 others(32): Show c.207+26_207+27insGGGGGGGGGGGGGGGTGGG	NDUFB11	ENSG00000147123.12	transcript	ENST00000377811.4	protein_coding	1/2			chrX	TogoVar
NDUFB11_chrX_47137216_47149702	47144446	A A	ACCCCCCC others(12): Show ACCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	274	0.0037	19	c.207 others(32): Show c.207+26_207+27insGGGGGGGGGGGGGGGGGGG	NDUFB11	ENSG00000147123.12	transcript	ENST00000377811.4	protein_coding	1/2			chrX	TogoVar
NDUFB2_chr7_140691708_140711643	140701030	T T	TTTTTATA others(12): Show TTTTTATAAATAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	306	0.0033	19	c.99- others(34): Show c.99-1835_99-1834insTTTATAAATAAAAAAAACT	NDUFB2	ENSG00000090266.13	transcript	ENST00000247866.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NDUFB6_chr9_32548001_32578159	32563491	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0063 a0001c0001t0009g0063	1	378	0.0027	19	c.274 others(36): Show c.274-4538_274-4537insAAAAAAAAAAAAAAAAAAA	NDUFB6	ENSG00000165264.11	transcript	ENST00000379847.8	protein_coding	2/3			chr9	TogoVar
NDUFB9_chr8_124534123_124554979	124534145	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	392	0.0026	19	c.-50 others(30): Show c.-5042_-5041insAAAAAAAAAAAAAAAAAAA	NDUFB9	ENSG00000147684.10	transcript	ENST00000276689.8	protein_coding		4977		chr8	TogoVar
NDUFC2_chr11_78063297_78084862	78078728	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG04184.hp2 HG06807.hp1 others(1): Show HG01074.hp2 HG04184.hp2 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0003g0061 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0003g0061 a0001c0001t0008g0219	4	420	0.0095	19	c.166 others(34): Show c.166+850_166+851insAAAAAAAAAAAAAAAAAAA	NDUFC2	ENSG00000151366.13	transcript	ENST00000281031.5	protein_coding	1/2			chr11	TogoVar
NDUFS1_chr2_206109817_206164444	206140930	A A	ATACACAC others(12): Show ATACACACACACATATACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03195.hp1 others(1): Show HG02896.hp1 HG02897.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0080 a0001c0006t0081 a0001c0006t0029 a0001c0006t0080 a0001c0006t0081	a0001c0006t0029g0034 a0001c0006t0029g0035 a0001c0006t0080g0033 others(1): Show a0001c0006t0029g0034 a0001c0006t0029g0035 a0001c0006t0080g0033 a0001c0006t0081g0036	4	336	0.0119	19	c.126 others(38): Show c.1262+1010_1262+1011insGTGTATATGTGTGTGTGTA	NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	12/18			chr2	TogoVar
NDUFS1_chr2_206109817_206164444	206151874	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0204 a0001c0002t0003g0204	1	336	0.0030	19	c.153 others(34): Show c.153+544_153+545insAAAAAAAAAAAAAAAAAAA	NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	3/18			chr2	TogoVar
NDUFS6_chr5_1796407_1821048	1799784	T T	TCCCTTAC others(12): Show TCCCTTACCCGGGCCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	444	0.0023	19	c.-16 others(30): Show c.-1634_-1633insCCCTTACCCGGGCCACACG	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding		1622		chr5	TogoVar
NDUFS7_chr19_1378907_1400584	1379799	C C	CCATGTCC others(12): Show CCATGTCCCTGCCAATGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	418	0.0024	19	c.-41 others(30): Show c.-4128_-4127insCATGTCCCTGCCAATGCTT	NDUFS7	ENSG00000115286.21	transcript	ENST00000233627.14	protein_coding		4107		chr19	TogoVar
NECAB1_chr8_90786775_90964393	90907188	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18944.hp2 NA18952.hp2 HG02155.hp2 NA18944.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0117 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0117	3	248	0.0121	19	c.358 others(38): Show c.358-10303_358-10302insGAGAGAGAGAGAGAGAGAA	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90952798	T T	TAAAATAA others(12): Show TAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03540.hp1 HG03540.hp2 HG02145.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0036 a0001c0001t0054 a0001c0001t0005 a0001c0001t0036 a0001c0001t0054	a0001c0001t0005g0177 a0001c0001t0036g0139 a0001c0001t0054g0114 a0001c0001t0005g0177 a0001c0001t0036g0139 a0001c0001t0054g0114	3	248	0.0121	19	c.103 others(38): Show c.1030+1594_1030+1595insAAAATAAAATAAAATAAAA	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	12/12			chr8	TogoVar
NECAB2_chr16_83963244_84007776	83985313	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19082.hp1 HG02132.hp1 NA19082.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0007 a0004c0005t0005 a0003c0004t0007 a0004c0005t0005	a0003c0004t0007g0276 a0004c0005t0005g0272 a0003c0004t0007g0276 a0004c0005t0005g0272	2	354	0.0057	19	c.459 others(36): Show c.459+4201_459+4219dupAAAAAAAAAAAAAAAAAAA	NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
NEDD1_chr12_96902257_96958780	96932461	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	400	0.0025	19	c.490 others(36): Show c.490-2515_490-2514insTATATATATATATATATAT	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15			chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02523.hp2 NA18964.hp2 HG01934.hp1 HG02523.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0267 a0001c0001t0001g0322 a0001c0001t0004g0040 a0001c0001t0001g0267 a0001c0001t0001g0322 a0001c0001t0004g0040	3	400	0.0075	19	c.490 others(36): Show c.490-2512_490-2511insAAAAAAAAATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932480	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	400	0.0025	19	c.490 others(36): Show c.490-2488_490-2487insTATATATATATTATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4L_chr18_58039226_58406539	58082102	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0021 a0001c0001t0045g0021	1	118	0.0085	19	c.48+ others(36): Show c.48+37395_48+37396insATATATATTTTTTTTTTTT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58082102	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18995.hp1 NA18983.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0003g0078 a0001c0001t0001g0013 a0001c0001t0003g0078	2	118	0.0170	19	c.48+ others(36): Show c.48+37395_48+37413dupTTTTTTTTTTTTTTTTTTT	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr18	TogoVar

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