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
NLRP4_chr19_55831540_55886855	55850024	G G	GATTTCCG others(93): Show GATTTCCGTAGCTGCGGTGGGATTTCCGAGACTGCGGTGGAATTTCCGTG GCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAGGCTGCGGTGT A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0324 a0001c0006t0002g0324	1	424	0.0024	100	c.-65 others(117): Show c.-65-1985_-65-1984insTAGCTGCGGTGGGATTTCCGAGACTGCG GTGGAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTC CGAGGCTGCGGTGTAATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850243	T T	TGATTTCC others(93): Show TGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGA GACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTG G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0348 a0002c0002t0005g0348	1	424	0.0024	100	c.-65 others(117): Show c.-65-1773_-65-1772insGATTTCCGTAGCTGCGGTGTGATTTCCG TAGCTGCGGTGTGATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGT GGAATTTCCGAGACTGCGGTGG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850312	T T	TGGCTGCG others(93): Show TGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGT GTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTAATTCCCG A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0326 a0001c0001t0028g0326	1	424	0.0024	100	c.-65 others(117): Show c.-65-1692_-65-1691insCTTCCCGAGGCTGCGGTGTACTTCCCGA GGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTG TAATTCCCGAGGCTGCGGTGTA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850612	A A	AGACTGCG others(93): Show AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GGGATTTCCGTGACTGCGGTGGGATTTCCGTGACTGCGGTGGGATTTCCG T	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0141 a0002c0003t0004g0141	1	424	0.0024	100	c.-65 others(117): Show c.-65-1403_-65-1402insACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCGGTGGGATTTCCG TGACTGCGGTGGGATTTCCGTG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850812	A A	AGGCTGCG others(93): Show AGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0304 a0003c0007t0002g0304	1	424	0.0024	100	c.-65 others(117): Show c.-65-1190_-65-1189insTTACGAGGCTGCGGTGTAATGTCCGTGG CTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTA ATGTCCGTGGCTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850987	T T	TTCCGAGG others(93): Show TTCCGAGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCTTGGCT GCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAAT G	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19240.hp2 HG02723.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0009 a0001c0005 a0002c0009	a0001c0005t0013 a0002c0009t0007 a0001c0005t0013 a0002c0009t0007	a0001c0005t0013g0225 a0002c0009t0007g0406 a0001c0005t0013g0225 a0002c0009t0007g0406	2	424	0.0047	100	c.-65 others(117): Show c.-65-1028_-65-1027insCCGAGGCTGCGGTGTAATTTCCGTGGCT GCGGTGTAATTTCCTTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAAT TTCCGAGGCTGCGGTGTAATGT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851378	C C	CGGTGTAC others(93): Show CGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTT CCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTAATTCCCGAGGCGG T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0176 a0002c0003t0001g0176	1	424	0.0024	100	c.-65 others(115): Show c.-65-632_-65-631insCTTCCCGAGGCTGCGGTGTACTTCCCGAGG CTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTA ATTCCCGAGGCGGTGGTGTA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851452	T T	TGGCTGCG others(93): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACG A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19091.hp2 NA19066.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0290 a0002c0002t0006g0291 a0002c0002t0006g0290 a0002c0002t0006g0291	2	424	0.0047	100	c.-65 others(115): Show c.-65-545_-65-544insTGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACG AGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851469	C C	CCGAGGCT others(93): Show CCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGC GGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTT A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0219 a0002c0003t0003g0219	1	424	0.0024	100	c.-65 others(115): Show c.-65-525_-65-524insAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACG AGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851550	C C	CCGAGGCT others(93): Show CCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGC GGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTT A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0235 a0001c0005t0001g0235	1	424	0.0024	100	c.-65 others(115): Show c.-65-464_-65-463insAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATTTACG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851589	T T	TCCGAGGC others(93): Show TCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTG CGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATT C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0410 a0002c0002t0010g0410	1	424	0.0024	100	c.-65 others(115): Show c.-65-404_-65-403insAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTCCCG AGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851609	T T	TCCGAGGC others(93): Show TCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTG CGGTGTAATGTCCGTGGCTGCGGTGTAATTCCCGAGGCTGCGGTGTAATT C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0223 a0002c0002t0008g0223	1	424	0.0024	100	c.-65 others(115): Show c.-65-404_-65-403insAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTCCCG AGGCTGCGGTGTAATTCCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851713	A A	AGGCTGCG others(93): Show AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATTTCCA T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0400 a0002c0002t0007g0400	1	424	0.0024	100	c.-65 others(115): Show c.-65-289_-65-288insGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATTTCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAAT TTCCATGGCTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993412	C C	CCCTCCCC others(93): Show CCCTCCCCCCCCTCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCC TCTCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCTCCCCCTCTCTCCCCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0011 a0000c0008t0011	a0000c0008t0011g0044 a0000c0008t0011g0044	1	350	0.0029	100	c.54 others(111): Show c.5499_*5500insCCTCCCCCCCCTCCCCCCTCTCCCCCCCTCTCCC CCCCTCTCCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCT CCCCCTCTCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4784		chr19	TogoVar
NOS1AP_chr1_162064691_162375475	162264464	T T	TCTTCTCT others(93): Show TCTTCTCTTCTCTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTC C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	182	0.0055	100	c.178 others(119): Show c.178-22879_178-22878insTTCTCTTCTCTTCTCTTCTCTTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCCCCTCCC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	C C	CGGGGAGC others(93): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCG GGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCG G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0006 a0006	a0006c0050 a0006c0050	a0006c0050t0023 a0006c0050t0023	a0006c0050t0023g0134 a0006c0050t0023g0134	1	324	0.0031	100	c.140 others(117): Show c.140+8559_140+8560insCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(93): Show GGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGG GAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGC A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0044 a0001c0001t0013g0044	1	324	0.0031	100	c.140 others(117): Show c.140+8514_140+8515insTGCACTCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCAGGAGG GATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535570	G G	GGGGGGGG others(93): Show GGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0010 a0010	a0010c0056 a0010c0056	a0010c0056t0002 a0010c0056t0002	a0010c0056t0002g0148 a0010c0056t0002g0148	1	324	0.0031	100	c.140 others(117): Show c.140+8453_140+8454insACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(93): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02080.hp2 HG03209.hp2 HG00735.hp1 HG02080.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0004 a0001c0002t0005 a0001c0019t0002 a0001c0001t0004 a0001c0002t0005 a0001c0019t0002	a0001c0001t0004g0064 a0001c0002t0005g0141 a0001c0019t0002g0150 a0001c0001t0004g0064 a0001c0002t0005g0141 a0001c0019t0002g0150	3	324	0.0093	100	c.140 others(117): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCTCTCC ACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGA CCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(93): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGG GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAATG A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0291 a0001c0005t0001g0291	1	324	0.0031	100	c.140 others(117): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTG CTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(93): Show AGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT CGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0280 a0001c0003t0001g0280	1	324	0.0031	100	c.140 others(117): Show c.140+8190_140+8191insGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535891	A A	AGGGGGGA others(93): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGT G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	324	0.0031	100	c.140 others(117): Show c.140+8132_140+8133insCACCCACCCTGCACCCATTGCCCCAGGA GGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGG AGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535932	G G	GGGTGGGT others(93): Show GGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGC ATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCA T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	324	0.0031	100	c.140 others(117): Show c.140+8091_140+8092insATGCACCCATTGCCCCGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCCTG AGTGCTCCCCTCTCCACCCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH3_chr19_15154038_15205995	15173744	A A	AGAAGAAG others(93): Show AGAAGAAGAAGAAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAA G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0008 a0002c0015t0008	a0002c0015t0008g0316 a0002c0015t0008g0316	1	340	0.0029	100	c.473 others(117): Show c.4736+323_4736+324insCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCTTCTTCTTCTTCTTC	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NPBWR2_chr20_64098802_64112565	64105555	G G	GTGATGAT others(93): Show GTGATGATGGGGGTGGTGGGGGGGGGTGGGCGTGATGATGGGGGTGGGGG TGGGGGTGATGGTGGGCGTGATGGTGGATGTGATGGGGGTGGGCATGATG A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0093 a0001c0002t0093	a0001c0002t0093g0066 a0001c0002t0093g0066	1	355	0.0028	100	c.27 others(109): Show c.274_*275insTCATCATGCCCACCCCCATCACATCCACCATCACGC CCACCATCACCCCCACCCCCACCCCCATCATCACGCCCACCCCCCCCCAC CACCCCCATCATCA	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	274		chr20	TogoVar
NPSR1_chr7_34653218_34854978	34792665	T T	TTATATAT others(93): Show TTATATATATGTATATATATATTTATATATATATGTATATATATATATTT ATATATATATGTATATATATATATTTATATATATGTATATATATATATTT A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0031 a0006c0006t0002g0031	1	260	0.0039	100	c.384 others(119): Show c.384+14121_384+14122insTTATATATATATGTATATATATATAT TTATATATATATGTATATATATATATTTATATATATGTATATATATATAT TTATATATATATGTATATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NRIP1_chr21_14956235_15070000	15030875	G G	GTACACTC others(93): Show GTACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGT ATACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGT A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0377 a0001c0001t0004g0377	1	398	0.0025	100	c.-45 others(121): Show c.-458+12619_-458+12620insTACACATAGAAAGGGAATGTGGTG ATCCTCCGAGCGCCTTCCAGAGTGTATACACATAGAAAGGGAATGTGGTG ATCCTCCGAGCGCCTTCCAGAGTGTA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030895	G G	GGAGGGTC others(93): Show GGAGGGTCACTACATCCCCTTTCTATGTGTGTACACTCTGGAAGGCACTC AGAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTC A	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19085.hp2 NA19087.hp1 others(1): Show NA18990.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	4	398	0.0101	100	c.-45 others(121): Show c.-458+12599_-458+12600insTGAACACCTTCCAGAGTGTATACA CATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTGTACACA CATAGAAAGGGGATGTAGTGACCCTC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030900	A A	ATCACCAC others(93): Show ATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGG ATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGG T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	398	0.0025	100	c.-45 others(121): Show c.-458+12594_-458+12595insACCTCTGAACACCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030900	A A	ATCACCAC others(93): Show ATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGG ATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGG T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02683.hp2 HG06807.hp2 others(1): Show HG02559.hp1 HG02683.hp2 HG06807.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0024 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0025 a0001c0002t0009	a0001c0001t0001g0180 a0001c0001t0024g0225 a0001c0001t0025g0385 others(1): Show a0001c0001t0001g0180 a0001c0001t0024g0225 a0001c0001t0025g0385 a0001c0002t0009g0173	4	398	0.0101	100	c.-45 others(121): Show c.-458+12594_-458+12595insACCTCTGAACACCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTGT ACACACATAGAAAGGGAATGTGGTGA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(93): Show CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18943.hp2 HG02015.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0353 a0001c0001t0004g0345 a0001c0001t0001g0353 a0001c0001t0004g0345	2	398	0.0050	100	c.-45 others(121): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(93): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04204.hp2 HG03654.hp1 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0151 a0002c0003t0003g0152	2	398	0.0050	100	c.-45 others(121): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(93): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CCCATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp1 others(22): Show HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00673.hp2 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02155.hp2 HG02602.hp1 NA18940.hp1 NA18943.hp1 NA18956.hp1 NA18966.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19056.hp1 NA19070.hp2 NA19080.hp2 NA19087.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0016 a0014c0019	a0001c0001t0004 a0001c0002t0009 a0002c0003t0003 others(3): Show a0001c0001t0004 a0001c0002t0009 a0002c0003t0003 a0002c0003t0044 a0002c0016t0003 a0014c0019t0003	a0001c0001t0004g0063 a0001c0002t0009g0054 a0002c0003t0003g0027 others(22): Show a0001c0001t0004g0063 a0001c0002t0009g0054 a0002c0003t0003g0027 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0050 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0057 a0002c0003t0003g0061 a0002c0003t0003g0062 a0002c0003t0044g0038 a0002c0016t0003g0045 a0014c0019t0003g0263	25	398	0.0628	100	c.-45 others(121): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGGGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(93): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CCCATTCCCTTTCTATGTGTGTACACTCTGGAAGGTGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA19003.hp1 NA18997.hp1 NA19003.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0025 a0002c0003t0003g0026	2	398	0.0050	100	c.-45 others(121): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCACCTTCCAG AGTGTACACACATAGAAAGGGAATGGGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030925	G G	GTACACTC others(93): Show GTACACTCTGGAAGGCACTCAGAGGATCACCACATTCCCTTTCTATGTGT GTACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGT A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0020 a0005c0015t0020	a0005c0015t0020g0277 a0005c0015t0020g0277	1	398	0.0025	100	c.-45 others(121): Show c.-458+12569_-458+12570insTACACATAGAAAGGGAATGTGGTG ATCCTCCGAGCGCCTTCCAGAGTGTACACACATAGAAAGGGAATGTGGTG ATCCTCTGAGTGCCTTCCAGAGTGTA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030925	G G	GTACACTC others(93): Show GTACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGT ATACACTCTGGAAGGCACTCAGAGGATCACCACATTCCCTTTCTATGTGT A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0042 a0001c0004t0042	a0001c0004t0042g0365 a0001c0004t0042g0365	1	398	0.0025	100	c.-45 others(121): Show c.-458+12569_-458+12570insTACACATAGAAAGGGAATGTGGTG ATCCTCTGAGTGCCTTCCAGAGTGTATACACATAGAAAGGGAATGTGGTG ATCCTCCGAGCGCCTTCCAGAGTGTA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(93): Show CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp1 HG01168.hp2 others(6): Show HG00735.hp2 HG01168.hp1 HG01168.hp2 HG01258.hp1 HG02148.hp1 HG02622.hp1 HG03654.hp2 HG03710.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0007c0009	a0001c0001t0004 a0001c0001t0021 a0001c0002t0006 others(3): Show a0001c0001t0004 a0001c0001t0021 a0001c0002t0006 a0001c0002t0014 a0001c0004t0042 a0007c0009t0005	a0001c0001t0004g0377 a0001c0001t0021g0243 a0001c0002t0006g0235 others(6): Show a0001c0001t0004g0377 a0001c0001t0021g0243 a0001c0002t0006g0235 a0001c0002t0006g0236 a0001c0002t0006g0246 a0001c0002t0006g0380 a0001c0002t0014g0242 a0001c0004t0042g0365 a0007c0009t0005g0247	9	398	0.0226	100	c.-45 others(121): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAG AGTGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031243	G G	GGAGGTTC others(93): Show GGAGGTTCACTACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCAC GGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTC A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0060 a0002c0003t0003g0060	1	398	0.0025	100	c.-45 others(121): Show c.-458+12251_-458+12252insTGAACGCCTTCCAGAGTGTACACA CATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAGAGTGTATACA CATAGAAAGGGAATGTAGTGAACCTC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031398	A A	ATCACCAC others(93): Show ATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGG TTCACCACATTCCCTTTCTATGTATATACACTCTGGAAGGCGGTTGGAGG T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0135 a0002c0003t0003g0135	1	398	0.0025	100	c.-45 others(121): Show c.-458+12096_-458+12097insACCTCCAACCGCCTTCCAGAGTGT ATATACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAGTGT ACACACATAGAAAGGGAATGTGGTGA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRSN1_chr6_24121215_24152530	24150816	C C	CAAGAAAG others(93): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0019	1	406	0.0025	100	c.48 others(111): Show c.4870_*4871insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3287		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150881	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	406	0.0025	100	c.49 others(111): Show c.4935_*4936insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3352		chr6	TogoVar
NT5DC4_chr2_112716020_112744095	112732316	G G	GCAGGGGC others(93): Show GCAGGGGCAGGTTCTCCAGTAAATCCCAGGTCTCACTGGCCTGTGTCTTT ACAGGGGCAGGTTCTCCAGTAAATCCCAGGTCTCACTGGCCTGTGTCTTT A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	364	0.0028	100	c.134 others(119): Show c.1344+2713_1344+2812dupCAGGGGCAGGTTCTCCAGTAAATCCC AGGTCTCACTGGCCTGTGTCTTTACAGGGGCAGGTTCTCCAGTAAATCCC AGGTCTCACTGGCCTGTGTCTTTA	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NTM_chr11_131365615_132341822	132070398	T T	TTAACACG others(93): Show TTAACACGTCAAACTGACCGTCACAGGTTAGTTAACATGTCACACAGCCA AGTTAACACGTCACACTGACCGTCACAGGTTAGTTAACACGTCACCCAGC C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	86	0.0116	100	c.168 others(119): Show c.168-75884_168-75883insTAACACGTCAAACTGACCGTCACAGG TTAGTTAACATGTCACACAGCCAAGTTAACACGTCACACTGACCGTCACA GGTTAGTTAACACGTCACCCAGCC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8			chr11	TogoVar
NTNG2_chr9_132157058_132249526	132174317	C C	CAGACGGA others(93): Show CAGACGGACAGATGGACAGATAGGCAGGCCGCACCATGCTGCGGATGAGA TGGACAGACGGACAGACGGACAGATAGGCAGGCCGCACCATGCTGCGGAT G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	358	0.0028	100	c.213 others(117): Show c.213+7273_213+7274insAGACGGACAGATGGACAGATAGGCAGGC CGCACCATGCTGCGGATGAGATGGACAGACGGACAGACGGACAGATAGGC AGGCCGCACCATGCTGCGGATG	NTNG2	ENSG00000196358.12	transcript	ENST00000393229.4	protein_coding	2/7			chr9	TogoVar
NTRK2_chr9_84664729_85032054	84797561	C C	CTATATAT others(93): Show CTATATATACTATATACTATATATATTATATATACTATATATACTATATA TTATATATATTATATATACTATATATTATATATATTATATATACTATATA T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02559.hp2 others(13): Show HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0019 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0001t0045 a0001c0001t0052 a0001c0001t0053 a0001c0001t0058 a0001c0001t0059 a0001c0002t0006 a0001c0003t0013	a0001c0001t0001g0009 a0001c0001t0001g0131 a0001c0001t0006g0010 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0131 a0001c0001t0006g0010 a0001c0001t0013g0108 a0001c0001t0019g0103 a0001c0001t0019g0118 a0001c0001t0033g0015 a0001c0001t0038g0158 a0001c0001t0039g0011 a0001c0001t0045g0105 a0001c0001t0052g0107 a0001c0001t0053g0109 a0001c0001t0058g0002 a0001c0001t0059g0001 a0001c0002t0006g0156 a0001c0003t0013g0117	16	170	0.0941	100	c.139 others(121): Show c.1396+45483_1396+45484insACTATATACTATATATATTATATA TACTATATATACTATATATTATATATATTATATATACTATATATTATATA TATTATATATACTATATATTATATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	85004039	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	170	0.0059	100	c.217 others(121): Show c.2173-16161_2173-16160insAAAGAAAGAAAGAAAAGAAAGAAA GAAAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAAGAAAGAGAGAAAG	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTS_chr12_85869295_85887992	85879284	A A	ATGTACGT others(93): Show ATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAAATATATT TATATATATATATTTTATGTACGTAAAATATATTTATATATATATTTTAT G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(29): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02148.hp1 HG02293.hp2 NA18939.hp2 NA18955.hp1 NA18968.hp2 NA18973.hp1 NA18979.hp2 NA18992.hp1 NA18993.hp2 NA19009.hp1 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0052 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175	32	420	0.0762	100	c.360 others(115): Show c.360+716_360+717insGTACGTAAAATATATTTTTATATATATTTT ATGTACGTAAAATATATTTATATATATATATTTTATGTACGTAAAATATA TTTATATATATATTTTATGT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP210L_chr1_153987690_154160073	154125622	A A	AAAGGAAG others(93): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	290	0.0035	100	c.132 others(117): Show c.1326+601_1326+700dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP93_chr16_56725129_56855286	56739855	C C	CCCCCCCA others(93): Show CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACA T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	378	0.0027	100	c.-14 others(117): Show c.-14-8376_-14-8375insCCCACCTCCCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCCGACATCCC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808153	T T	TAATATAT others(93): Show TAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATA TTTTATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATA A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0373 a0001c0001t0003g0373	1	378	0.0027	100	c.489 others(117): Show c.489+2570_489+2571insTTTTATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar

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