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
NCS1_chr9_130167404_130242303	130189879	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0088 a0001c0002t0088	a0001c0002t0088g0259 a0001c0002t0088g0259	1	348	0.0029	34	c.65- others(51): Show c.65-11078_65-11077insAAAAAAAATATATATATATATATATATA TATATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	196	0.0051	34	c.594 others(49): Show c.594+337_594+338insCTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17			chr1	TogoVar
NDC80_chr18_2566557_2621635	2614563	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	402	0.0025	34	c.179 others(53): Show c.1792-1874_1792-1873insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16			chr18	TogoVar
NDE1_chr16_15645245_15731353	15712882	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0340	1	367	0.0027	34	c.948 others(53): Show c.948-11296_948-11295insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NDE1	ENSG00000072864.16	transcript	ENST00000396354.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
NDST4_chr4_114822763_115118620	115022234	G G	GTTCCACG others(27): Show GTTCCACGTCTATGCACGTTCCATATATATACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 HG02717.hp1 others(4): Show HG01109.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02970.hp1 HG03139.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0132 a0001c0001t0001g0188 others(4): Show a0001c0001t0001g0065 a0001c0001t0001g0132 a0001c0001t0001g0188 a0001c0002t0001g0055 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0122	7	190	0.0368	34	c.979 others(53): Show c.979-44961_979-44960insTGTGTATATATATGGAACGTGCATAG ACGTGGAA	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NDUFA10_chr2_239952372_240030342	240004577	C C	CCTCCTAG others(27): Show CCTCCTAGTCCTGCCCCATTCCGCCATGGCCTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0153 a0001c0001t0017g0166 a0001c0001t0017g0153 a0001c0001t0017g0166	2	412	0.0049	34	c.890 others(49): Show c.890+599_890+632dupAGGAGGCCATGGCGGAATGGGGCAGGACTA GGAG	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	8/9			chr2	TogoVar
NDUFA10_chr2_239952372_240030342	240004591	C C	CCCATTCC others(27): Show CCCATTCCGCCATGGCCTCCTCTCCTAGTCCTGCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02258.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0048 a0001c0001t0025g0049 a0001c0001t0025g0048 a0001c0001t0025g0049	2	412	0.0049	34	c.890 others(49): Show c.890+585_890+618dupAGCAGGACTAGGAGAGGAGGCCATGGCGGA ATGG	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	8/9			chr2	TogoVar
NDUFA11_chr19_5889675_5908790	5907610	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	364	0.0028	34	c.-39 others(45): Show c.-3903_-3902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding		3821		chr19	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02630.hp1 HG01928.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0244 a0001c0001t0001g0136 a0001c0001t0001g0244	2	360	0.0056	34	c.379 others(51): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4			chr16	TogoVar
NDUFAF2_chr5_60940205_61158026	61136005	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01952.hp1 HG02273.hp2 others(8): Show HG01167.hp1 HG01952.hp1 HG02273.hp2 HG02451.hp2 HG02523.hp2 HG02723.hp1 HG02922.hp1 NA18953.hp1 NA19043.hp2 NA19060.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0036 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0089 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0174 a0001c0002t0001g0183	11	266	0.0414	34	c.259 others(53): Show c.259-16695_259-16662dupATATATATATATATATATATATATAT ATATATAT	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDUFB5_chr3_179599794_179632647	179624572	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 NA18980.hp1 HG03540.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0062 a0001c0001t0053 a0001c0001t0062	a0001c0001t0053g0026 a0001c0001t0062g0013 a0001c0001t0053g0026 a0001c0001t0062g0013	2	366	0.0055	34	c.56 others(43): Show c.564_*565insACACACACACACACACACACACACACACACACAC	NDUFB5	ENSG00000136521.13	transcript	ENST00000259037.8	protein_coding	6/6	565	INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFB5_chr3_179599794_179632647	179624572	T T	TATACACA others(27): Show TATACACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0103	a0001c0002t0103g0117 a0001c0002t0103g0117	1	366	0.0027	34	c.53 others(43): Show c.533_*534insTACACACACACACACACACACACACACACACACA	NDUFB5	ENSG00000136521.13	transcript	ENST00000259037.8	protein_coding	6/6	534	INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFC2_chr11_78063297_78084862	78078728	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(29): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00733.hp2 HG00735.hp1 HG01081.hp2 HG01261.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG02056.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG03490.hp1 HG03492.hp1 HG03710.hp1 HG04199.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp2 NA18977.hp1 NA18984.hp1 NA18994.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0108 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0003g0018 a0001c0001t0003g0039 a0001c0001t0003g0115	32	420	0.0762	34	c.166 others(49): Show c.166+850_166+851insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NDUFC2	ENSG00000151366.13	transcript	ENST00000281031.5	protein_coding	1/2			chr11	TogoVar
NDUFS5_chr1_39021350_39039615	39024930	A A	ATATATAT others(27): Show ATATATATATATATATTTATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	34	c.-14 others(45): Show c.-1475_-1474insTATATATATATATATTTATATATATATATATATT	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1419		chr1	TogoVar
NDUFS5_chr1_39021350_39039615	39024932	A A	ATATATAT others(27): Show ATATATATATATATATTTATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	34	c.-14 others(45): Show c.-1473_-1472insTATATATATATATATTTATATATATATATATATT	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding		1417		chr1	TogoVar
NECAB1_chr8_90786775_90964393	90917870	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG02074.hp1 others(2): Show HG00099.hp1 HG00423.hp2 HG02074.hp1 HG03669.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0012 a0001c0001t0002g0056 a0001c0001t0002g0084 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0056 a0001c0001t0002g0084 a0001c0001t0002g0119 a0001c0001t0007g0116	5	248	0.0202	34	c.494 others(49): Show c.494+243_494+244insATATATATATATATATATATATATATATGT GTGT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD1_chr12_96902257_96958780	96932455	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0133 a0001c0001t0018g0133	1	400	0.0025	34	c.490 others(51): Show c.490-2520_490-2519insTATATATATATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932459	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	400	0.0025	34	c.490 others(51): Show c.490-2516_490-2515insTATATATATATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	400	0.0025	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAAAAAAAAAAAATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18946.hp2 NA18957.hp1 others(2): Show HG00621.hp1 NA18946.hp2 NA18957.hp1 NA19062.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0240 a0001c0001t0001g0314 a0001c0001t0003g0157 others(2): Show a0001c0001t0001g0240 a0001c0001t0001g0314 a0001c0001t0003g0157 a0001c0001t0003g0172 a0001c0001t0016g0042	5	400	0.0125	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAAAAAAAATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18959.hp2 NA18969.hp1 others(3): Show HG01358.hp1 NA18959.hp2 NA18969.hp1 NA19054.hp2 NA19074.hp2 NA19075.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0003t0003	a0001c0001t0001g0294 a0001c0001t0003g0178 a0001c0001t0003g0204 others(3): Show a0001c0001t0001g0294 a0001c0001t0003g0178 a0001c0001t0003g0204 a0001c0001t0004g0031 a0001c0001t0004g0041 a0002c0003t0003g0188	6	400	0.0150	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAAAAAATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02015.hp1 HG03654.hp1 others(4): Show HG01243.hp2 HG02015.hp1 HG03654.hp1 NA18612.hp2 NA18947.hp1 NA18984.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0219 a0001c0001t0001g0309 a0001c0001t0002g0152 others(4): Show a0001c0001t0001g0219 a0001c0001t0001g0309 a0001c0001t0002g0152 a0001c0001t0003g0168 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0008g0233	7	400	0.0175	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAAAATATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18975.hp1 NA19089.hp2 HG02486.hp1 NA18975.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0280 a0001c0001t0001g0374 a0001c0001t0004g0021 a0001c0001t0001g0280 a0001c0001t0001g0374 a0001c0001t0004g0021	3	400	0.0075	34	c.490 others(51): Show c.490-2512_490-2511insAAAAAATATATATATATATATATATATA TATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4_chr15_55821922_55998612	55940518	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02080.hp2 HG02148.hp2 others(6): Show HG01884.hp1 HG02080.hp2 HG02148.hp2 HG03098.hp2 NA18940.hp1 NA18945.hp1 NA18983.hp2 NA19005.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(2): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0011 a0002c0007t0003	a0002c0002t0002g0031 a0002c0002t0003g0019 a0002c0002t0003g0020 others(6): Show a0002c0002t0002g0031 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0035 a0002c0002t0003g0149 a0002c0002t0003g0181 a0002c0002t0007g0291 a0002c0002t0011g0066 a0002c0007t0003g0331	9	344	0.0262	34	c.237 others(53): Show c.237+10857_237+10858insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	NEDD4	ENSG00000069869.17	transcript	ENST00000435532.8	protein_coding	4/28			chr15	TogoVar
NEGR1_chr1_71390943_72287539	71597472	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	64	0.0156	34	c.789 others(51): Show c.789-4505_789-4504insCACACACACACACACACACACAGAGAGA GAGAGA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71675112	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	64	0.0156	34	c.667 others(53): Show c.667+22895_667+22896insATATATATATATATATATATATATAT ATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71675126	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	64	0.0156	34	c.667 others(53): Show c.667+22881_667+22882insGTGTATATATATATATATATATATAT ATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71744284	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	64	0.0156	34	c.535 others(53): Show c.535+31887_535+31888insATATATATATATATATATATATATAT ATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	3/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71928441	T T	TATATGTA others(27): Show TATATGTATATATACACACATATGTATATATACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp2 HG03041.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0053 a0001c0002t0010g0005 a0001c0002t0002g0053 a0001c0002t0010g0005	2	64	0.0313	34	c.409 others(51): Show c.409+6637_409+6638insGTGTATATATACATATGTGTGTATATAT ACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEIL3_chr4_177304874_177367936	177348858	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	408	0.0025	34	c.870 others(51): Show c.870-2495_870-2494insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NEIL3	ENSG00000109674.4	transcript	ENST00000264596.4	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
NEK10_chr3_27101484_27374383	27331262	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19012.hp1 NA18968.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0119 a0001c0002t0014g0128 a0001c0002t0014g0119 a0001c0002t0014g0128	2	234	0.0086	34	c.363 others(51): Show c.363-9002_363-9001insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	5/35			chr3	TogoVar
NEK11_chr3_131021877_131355465	131115944	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	292	0.0034	34	c.455 others(51): Show c.455+6025_455+6058dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115948	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	292	0.0034	34	c.455 others(51): Show c.455+6029_455+6062dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115952	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0269 a0003c0003t0001g0269	1	292	0.0034	34	c.455 others(51): Show c.455+6033_455+6066dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115956	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0193 a0003c0004t0001g0193	1	292	0.0034	34	c.455 others(51): Show c.455+6068_455+6069insCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131115962	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0287 a0003c0004t0001g0287	1	292	0.0034	34	c.455 others(51): Show c.455+6068_455+6069insCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131282705	A A	AATATCTT others(27): Show AATATCTTGACAGGAAGATCTAAACAGAACATGAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp1 HG02451.hp2 others(11): Show HG01255.hp1 HG01891.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG06807.hp1 NA18522.hp2	a0002 a0009 a0010 others(1): Show a0002 a0009 a0010 a0011	a0002c0002 a0002c0005 a0009c0014 others(2): Show a0002c0002 a0002c0005 a0009c0014 a0010c0009 a0011c0015	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0009c0014t0002 a0010c0009t0001 a0011c0015t0001	a0002c0002t0001g0050 a0002c0002t0001g0085 a0002c0002t0001g0086 others(11): Show a0002c0002t0001g0050 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0152 a0002c0002t0002g0094 a0002c0002t0002g0266 a0002c0005t0001g0162 a0002c0005t0001g0163 a0009c0014t0002g0095 a0010c0009t0001g0166 a0011c0015t0001g0207	14	292	0.0480	34	c.171 others(53): Show c.1718+9133_1718+9166dupTATCTTGACAGGAAGATCTAAACAGA ACATGAGA	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK1_chr4_169387809_169617583	169445865	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	260	0.0039	34	c.258 others(53): Show c.2588-7607_2588-7606insGTATATATATATATATATATATATAT ATATATAT	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	27/35			chr4	TogoVar
NELL1_chr11_20664586_21580686	20721181	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	88	0.0114	34	c.184 others(53): Show c.184+43137_184+43138insTATATATATATATATATATATATATA TATATATA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21336674	T T	TATATATA others(27): Show TATATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	88	0.0114	34	c.155 others(55): Show c.1550-34178_1550-34177insTATATATATATATATATACACACA CACACACACA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44503806	T T	TATATATA others(27): Show TATATATATATATGCATATATATATATATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG02897.hp1 HG01071.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0121 a0001c0001t0005g0033 a0001c0001t0001g0121 a0001c0001t0005g0033	2	158	0.0127	34	c.51 others(45): Show c.5127_*5128insGCATATATATATATATATATGCATATATATATAT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding		4471		chr12	TogoVar
NELL2_chr12_44503278_44881315	44644623	T T	TATATATA others(27): Show TATATATACATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0079 a0001c0001t0010g0079	1	158	0.0063	34	c.144 others(55): Show c.1444+20860_1444+20861insGTATATATATATATATATATATGT ATGTATATAT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	13/19			chr12	TogoVar
NEMF_chr14_49777083_49857788	49804575	A A	AGAATTGC others(27): Show AGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	222	0.0045	34	c.185 others(53): Show c.1858-1315_1858-1282dupACTGCAACCTCTGCCTCCTGGGTTCA AGCAATTC	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	19/32			chr14	TogoVar
NEMF_chr14_49777083_49857788	49806232	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0220 a0002c0003t0004g0220	1	222	0.0045	34	c.174 others(50): Show c.1745-100_1745-99insTATATATATATATATATATATATATATAT ATATA	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0217 a0001c0007t0004g0217	1	324	0.0031	34	c.209 others(53): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73279351	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0081 a0002c0006t0003g0081	1	324	0.0031	34	c.326 others(53): Show c.3262+1167_3262+1168insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0203 a0001c0010t0002g0203	1	324	0.0031	34	c.390 others(53): Show c.3901+1578_3901+1579insAATATATATATATATATATATATATA TATATATA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	324	0.0031	34	c.390 others(53): Show c.3901+1595_3901+1596insATATATATATATATATATATATATAT ATATATAT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NETO2_chr16_47072703_47148945	47115701	A A	ATATATAT others(27): Show ATATATATATATACATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0051 a0001c0001t0010g0051	1	168	0.0060	34	c.655 others(51): Show c.655-6024_655-5991dupCATGTATATATATATATATATGTATATA TATATA	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar
NETO2_chr16_47072703_47148945	47115714	C C	CATATATA others(27): Show CATATATATATATATATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0021 a0002c0002t0006g0021	1	168	0.0060	34	c.655 others(51): Show c.655-6004_655-6003insATATATATACATATATATATATATATAT ATATAT	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	6/8			chr16	TogoVar

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