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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(22): Show TATATATATACACACACACATACACATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01433.hp1 others(8): Show HG00099.hp1 HG00735.hp2 HG01433.hp1 HG01981.hp1 HG02056.hp2 HG02080.hp1 HG02155.hp1 HG02615.hp1 HG03540.hp1 NA18956.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0005c0008t0007	a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0244 others(8): Show a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0244 a0001c0001t0001g0254 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0003g0110 a0001c0001t0003g0150 a0001c0001t0003g0171 a0001c0001t0010g0226 a0005c0008t0007g0299	11	316	0.0348	29	c.-99 others(46): Show c.-99+9537_-99+9538insATATATATACACACACACATACACATAT A		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22						chr20	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(22): Show TATATATATATATATACATACATACATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19012.hp1 HG01123.hp1 NA19012.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0080 a0004c0006t0006g0086 a0004c0006t0006g0080 a0004c0006t0006g0086	2	316	0.0063	29	c.-99 others(46): Show c.-99+9537_-99+9538insATATATATATATATACATACATACATAT A		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22						chr20	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(22): Show TATATATATATATATATATATACACATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	316	0.0032	29	c.-99 others(46): Show c.-99+9537_-99+9538insATATATATATATATATATATACACATAT A		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22						chr20	TogoVar
NCOA6_chr20_34709774_34830651	34751376	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18990.hp2 NA19003.hp1 others(1): Show HG00140.hp2 NA18990.hp2 NA19003.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0055 others(1): Show a0001c0001t0002g0015 a0001c0001t0002g0022 a0001c0001t0002g0055 a0001c0001t0002g0080	4	290	0.0138	29	c.167 others(46): Show c.1676-858_1676-857insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	8/14						chr20	TogoVar
NCOA7_chr6_125785960_125937034	125840868	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	270	0.0037	29	c.51- others(46): Show c.51-14138_51-14110dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		NCOA7	ENSG00000111912.20	transcript	ENST00000392477.7	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
NCOR1_chr17_16024157_16220534	16077506	A A	AGGGGGGA others(22): Show AGGGGGGAGGAGGGGGAGGGGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0257 a0001c0001t0010g0257	1	282	0.0036	29	c.350 others(48): Show c.3502-1805_3502-1804insCCCTCCTCCCCCCTCCCCCTCCTCCC CCC		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	26/45						chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095485	A A	AGGGTCGC others(22): Show AGGGTCGCCTCTGCCCGGCCGCCCCTACTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	282	0.0036	29	c.282 others(48): Show c.2820+2881_2820+2882insCAGTAGGGGCGGCCGGGCAGAGGCGA CCC		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45						chr17	TogoVar
NCOR2_chr12_124319415_124572612	124532935	T T	TCCTCCCT others(22): Show TCCTCCCTCCAAATCCCACTCCTCTTCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0032 a0032	a0032c0125 a0032c0125	a0032c0125t0058 a0032c0125t0058	a0032c0125t0058g0166 a0032c0125t0058g0166	1	234	0.0043	29	c.-11 others(48): Show c.-118+2601_-118+2629dupGGGGAAGAGGAGTGGGATTTGGAGGG AGG		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	2/48						chr12	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	457	0.0022	29	c.34 others(40): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding					3245		chr19	TogoVar
NCR3LG1_chr11_17346800_17382341	17350376	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA19081.hp1 NA18999.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0254 a0002c0002t0003g0257 a0002c0002t0003g0254 a0002c0002t0003g0257	2	380	0.0053	29	c.-15 others(40): Show c.-1594_-1593insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		NCR3LG1	ENSG00000188211.9	transcript	ENST00000338965.9	protein_coding					1423		chr11	TogoVar
NCS1_chr9_130167404_130242303	130189879	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0105 a0001c0001t0117g0105	1	348	0.0029	29	c.65- others(46): Show c.65-11078_65-11077insAAAAAAAAATATATATATATATATATAT A		NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NCS1_chr9_130167404_130242303	130222085	T T	TATACATA others(22): Show TATACATAAATATAAATTATGTATCTATAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG03486.hp1 HG02145.hp1 HG02615.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0183 a0001c0002t0018 a0001c0002t0065 a0001c0001t0183 a0001c0002t0018 a0001c0002t0065	a0001c0001t0183g0103 a0001c0002t0018g0299 a0001c0002t0065g0205 a0001c0001t0183g0103 a0001c0002t0018g0299 a0001c0002t0065g0205	3	348	0.0086	29	c.308 others(44): Show c.308-562_308-561insCATAAATATAAATTATGTATCTATAAATA		NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	196	0.0051	29	c.594 others(44): Show c.594+337_594+338insCTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17						chr1	TogoVar
NDE1_chr16_15645245_15731353	15712882	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG01069.hp1 others(20): Show HG00423.hp1 HG00438.hp2 HG01069.hp1 HG01071.hp1 HG01496.hp1 HG02040.hp2 HG02622.hp1 HG02886.hp2 HG03225.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18906.hp1 NA18952.hp1 NA18982.hp2 NA19002.hp1 NA19010.hp2 NA19030.hp1 NA19067.hp2 NA19080.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018	a0001c0001t0002g0154 a0001c0001t0002g0226 a0001c0001t0002g0232 others(20): Show a0001c0001t0002g0154 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0005g0164 a0001c0001t0006g0282 a0001c0001t0018g0227	23	367	0.0627	29	c.948 others(48): Show c.948-11296_948-11295insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		NDE1	ENSG00000072864.16	transcript	ENST00000396354.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
NDFIP1_chr5_142103779_142159440	142158920	A A	ATGTATGT others(22): Show ATGTATGTAAGATACTGTTATGTATCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00609.hp1 others(59): Show HG00140.hp2 HG00323.hp1 HG00609.hp1 HG00639.hp1 HG00741.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01884.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02135.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG04184.hp1 NA18906.hp1 NA18943.hp2 NA18956.hp1 NA18967.hp1 NA18971.hp2 NA18978.hp1 NA18980.hp2 NA18989.hp1 NA19057.hp2 NA19066.hp2 NA19067.hp2 NA19079.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0005t0003 a0001c0006t0003 a0002c0002t0003	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 others(53): Show a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0157 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0338 a0001c0001t0004g0011 a0001c0001t0006g0174 a0001c0001t0008g0161 a0001c0001t0013g0144 a0001c0001t0013g0148 a0001c0001t0030g0156 a0001c0001t0032g0195 a0001c0001t0033g0202 a0001c0005t0003g0139 a0001c0006t0003g0131 a0002c0002t0003g0022 a0002c0002t0003g0080 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0155	62	392	0.1582	29	c.71 others(40): Show c.7192_*7193insTGTATGTAAGATACTGTTATGTATCTTTT		NDFIP1	ENSG00000131507.11	transcript	ENST00000253814.6	protein_coding					4481		chr5	TogoVar
NDST4_chr4_114822763_115118620	114986832	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	190	0.0053	29	c.979 others(46): Show c.979-9559_979-9558insATATATATATATATATATATATATATAT A		NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13						chr4	TogoVar
NDUFA11_chr19_5889675_5908790	5907610	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01123.hp1 others(2): Show HG00735.hp1 HG00735.hp2 HG01123.hp1 HG01255.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0086	5	364	0.0137	29	c.-39 others(40): Show c.-3903_-3902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding					3821		chr19	TogoVar
NDUFA13_chr19_19511225_19533198	19527707	G G	GGCGGGCG others(22): Show GGCGGGCGGGAGGGAGGGCCGATCGGGTCC	frameshift_variant frameshift_variant	HIGH	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0165 a0002c0003t0001g0165	1	380	0.0026	29	c.252 others(36): Show c.252_253insGCGGGCGGGAGGGAGGGCCGATCGGGTCC	p.Gln others(4): Show p.Gln85fs	NDUFA13	ENSG00000186010.19	transcript	ENST00000507754.9	protein_coding	4/5	267/521	253/435	85/144			chr19	TogoVar
NDUFA7_chr19_8306284_8326375	8314902	A A	AGAAAGAG others(22): Show AGAAAGAGAAATCAGATTGTTAATGTGTCT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	402	0.0025	29	c.251 others(46): Show c.251+1565_251+1593dupAGACACATTAACAATCTGATTTCTCTTT C		NDUFA7	ENSG00000267855.6	transcript	ENST00000301457.3	protein_coding	3/3						chr19	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02717.hp2 HG03492.hp1 others(4): Show HG02148.hp1 HG02717.hp2 HG03492.hp1 HG03492.hp2 HG06807.hp1 NA19005.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0095 a0001c0001t0001g0101 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0001g0200 a0001c0001t0001g0225	7	360	0.0194	29	c.379 others(46): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4						chr16	TogoVar
NDUFC2_chr11_78063297_78084862	78078728	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp2 NA18944.hp2 HG02622.hp2 HG03453.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0121 a0001c0001t0003g0160 a0001c0001t0016g0148 a0001c0001t0001g0121 a0001c0001t0003g0160 a0001c0001t0016g0148	3	420	0.0071	29	c.166 others(44): Show c.166+850_166+851insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		NDUFC2	ENSG00000151366.13	transcript	ENST00000281031.5	protein_coding	1/2						chr11	TogoVar
NDUFS1_chr2_206109817_206164444	206113648	A A	AAGAATTA others(22): Show AAGAATTAGGTTTTAAAACCTAATCTCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	336	0.0030	29	c.10 others(42): Show c.10536_*10537insACTGAGATTAGGTTTTAAAACCTAATTCT		NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding					1168		chr2	TogoVar
NDUFS1_chr2_206109817_206164444	206122629	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG02258.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0028 a0001c0005t0023g0029 a0001c0005t0023g0028 a0001c0005t0023g0029	2	336	0.0060	29	c.15 others(40): Show c.1555_*1556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	19/19				1555		chr2	TogoVar
NECAB1_chr8_90786775_90964393	90922486	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 homoSapiens_chm13v2.hp1 HG00099.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0056 a0001c0001t0022g0005 a0001c0001t0002g0056 a0001c0001t0022g0005	2	248	0.0081	29	c.495 others(46): Show c.495-3025_495-3024insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD1_chr12_96902257_96958780	96932457	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19086.hp1 NA19084.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0082 a0001c0001t0002g0071 a0001c0001t0002g0082	2	400	0.0050	29	c.490 others(46): Show c.490-2519_490-2518insTATATATATATATATATATATATATATA T		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15						chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932461	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	400	0.0025	29	c.490 others(46): Show c.490-2515_490-2514insTATATATATATATATATATATATATATA T		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15						chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02027.hp2 NA18979.hp2 HG01167.hp1 HG02027.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0296 a0001c0001t0001g0304 a0001c0001t0001g0011 a0001c0001t0001g0296 a0001c0001t0001g0304	3	400	0.0075	29	c.490 others(46): Show c.490-2512_490-2511insAAAAAAAAAAAAATATATATATATATAT A		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(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19081.hp1 NA19054.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0310 a0001c0001t0003g0174 a0001c0001t0001g0310 a0001c0001t0003g0174	2	400	0.0050	29	c.490 others(46): Show c.490-2512_490-2511insAAAAAAAAAAATATATATATATATATAT A		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(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18957.hp2 NA18969.hp2 others(1): Show HG03098.hp1 NA18957.hp2 NA18969.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0278 a0001c0001t0001g0312 a0001c0001t0004g0032 others(1): Show a0001c0001t0001g0278 a0001c0001t0001g0312 a0001c0001t0004g0032 a0001c0001t0006g0013	4	400	0.0100	29	c.490 others(46): Show c.490-2512_490-2511insAAAAAAAAATATATATATATATATATAT A		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(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0169 a0001c0001t0006g0169	1	400	0.0025	29	c.490 others(46): Show c.490-2512_490-2511insAAAAAAATATATATATATATATATATAT A		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEGR1_chr1_71390943_72287539	71942483	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0012	1	64	0.0156	29	c.177 others(46): Show c.177-7173_177-7172insATATATATATATATATATATATATATAT A		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6						chr1	TogoVar
NEIL3_chr4_177304874_177367936	177348858	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	408	0.0025	29	c.870 others(46): Show c.870-2495_870-2494insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		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(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0136 a0001c0002t0003g0136	1	234	0.0043	29	c.363 others(46): Show c.363-9002_363-9001insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T		NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	5/35						chr3	TogoVar
NELL2_chr12_44503278_44881315	44521529	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	158	0.0063	29	c.217 others(46): Show c.2175+470_2175+471insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	18/19						chr12	TogoVar
NELL2_chr12_44503278_44881315	44528097	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	158	0.0063	29	c.180 others(48): Show c.1804+4455_1804+4483dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	16/19						chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0083 a0004c0005t0001g0083	1	158	0.0063	29	c.166 others(50): Show c.1663+19884_1663+19885insATATATATATATATATATTTTTTT TTTTT		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19						chr12	TogoVar
NEMF_chr14_49777083_49857788	49806257	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02572.hp2 HG01175.hp2 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0001c0001t0001 a0002c0003t0004	a0001c0001t0001g0158 a0002c0003t0004g0216 a0001c0001t0001g0158 a0002c0003t0004g0216	2	222	0.0090	29	c.174 others(46): Show c.1745-125_1745-124insTATATATATATATATATATATATATATA T		NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32						chr14	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19068.hp2 NA19003.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0004 a0001c0001t0003 a0001c0007t0004	a0001c0001t0003g0248 a0001c0007t0004g0218 a0001c0001t0003g0248 a0001c0007t0004g0218	2	324	0.0062	29	c.209 others(48): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		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(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19063.hp1 HG02135.hp2 NA19063.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0080 a0002c0006t0003g0083 a0002c0006t0003g0080 a0002c0006t0003g0083	2	324	0.0062	29	c.326 others(48): Show c.3262+1167_3262+1168insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	22/28					INFO_REALIGN_3_PRIME	chr15	TogoVar
NEURL1B_chr5_172636263_172696540	172667275	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	392	0.0026	29	c.32- others(44): Show c.32-2489_32-2488insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NFASC_chr1_204823652_205027822	204926406	A A	ATATATAT others(22): Show ATATATATATATATATATATACATTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0007 a0007	a0007c0045 a0007c0045	a0007c0045t0013 a0007c0045t0013	a0007c0045t0013g0015 a0007c0045t0013g0015	1	226	0.0044	29	c.-91 others(46): Show c.-91+5667_-91+5668insATATATATATATATATATACATTTTTTT T		NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926406	A A	ATATATAT others(22): Show ATATATATATATATATATATACATTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0011 a0002c0013t0011	a0002c0013t0011g0185 a0002c0013t0011g0185	1	264	0.0038	29	c.-90 others(48): Show c.-90-17819_-90-17818insATATATATATATATATATACATTTTT TTT		NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr1	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp1 HG01516.hp1 others(2): Show HG01167.hp2 HG01168.hp1 HG01516.hp1 NA18983.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0229 others(2): Show a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0229 a0001c0001t0005g0252 a0001c0001t0005g0256	5	380	0.0132	29	c.177 others(48): Show c.1775-2714_1775-2713insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79427639	C C	CGGTGGAG others(22): Show CGGTGGAGGCTGGACGGCTGGCCTCTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0022 a0002c0003t0022	a0002c0003t0022g0205 a0002c0003t0022g0205	1	322	0.0031	29	c.122 others(48): Show c.1227-5935_1227-5907dupGAGGCTGGACGGCTGGCCTCTGTGTG GTG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79482839	C C	CGTGACCT others(22): Show CGTGACCTGGTCCTGGGGTGTAATTCCAGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp1 HG02451.hp2 HG03098.hp1	a0001 a0005 a0001 a0005	a0001c0008 a0005c0031 a0001c0008 a0005c0031	a0001c0008t0005 a0005c0031t0004 a0001c0008t0005 a0005c0031t0004	a0001c0008t0005g0288 a0005c0031t0004g0011 a0001c0008t0005g0288 a0005c0031t0004g0011	2	322	0.0062	29	c.209 others(48): Show c.2093-3381_2093-3380insTGTGACCTGGTCCTGGGGTGTAATTC CAG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79483497	T T	TTCCTGGG others(22): Show TTCCTGGGGTGTCACTCCGGCGTGACCTGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19085.hp2 HG02056.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0001 a0001c0001t0002 a0001c0015t0001	a0001c0001t0002g0072 a0001c0015t0001g0272 a0001c0001t0002g0072 a0001c0015t0001g0272	2	322	0.0062	29	c.209 others(48): Show c.2093-2691_2093-2663dupCCTGGGGTGTCACTCCGGCGTGACCT GGT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8653038	T T	TTCTTTCT others(22): Show TTCTTTCTCTCTCCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0011 a0001c0001t0142g0011	1	366	0.0027	29	c.-16 others(50): Show c.-164+17295_-164+17296insTTCTCTCTCCTCTCTCTCTCTCTC TCTCT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NFU1_chr2_69391126_69442435	69424198	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	368	0.0027	29	c.167 others(44): Show c.167-482_167-481insATATATATATATATATATATATTTTTTTT		NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	2/7						chr2	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCCCTCCC others(22): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	366	0.0027	29	c.90- others(42): Show c.90-402_90-401insGAGGGAGGGAGGGAGGGAGGGAGGGAGGG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCTCCCCC others(22): Show TCTCCCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	366	0.0027	29	c.90- others(42): Show c.90-402_90-401insGAGGGAGGGAGGGAGGGAGGGAGGGGGAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar

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