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
NOL10_chr2_10565754_10694975	10587160	C C	CATATATA others(35): Show CATATATACACATATATATACATATATATACATATATACACAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	372	0.0027	42	c.184 others(61): Show c.1844+1882_1844+1883insATGTGTATATATGTATATATATGTAT ATATATGTGTATATAT		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	168	0.0060	42	c.773 others(59): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATATATATTTTT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	337	0.0030	42	c.180 others(59): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATATTTTTTTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP56_chr20_2647632_2663393	2652732	A A	AGAGCCTG others(35): Show AGAGCCTGGGCCCGGGCCTGGGCCTGGGCCCGGGCCTGGGCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	448	0.0022	42	c.3+7 others(51): Show c.3+70_3+71insAGCCTGGGCCCGGGCCTGGGCCTGGGCCCGGGCCTG GGCCTG		NOP56	ENSG00000101361.17	transcript	ENST00000329276.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
NOP56_chr20_2647632_2663393	2652732	A A	AGAGCCTG others(35): Show AGAGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	448	0.0022	42	c.3+7 others(51): Show c.3+70_3+71insAGCCTGGGCCTGGGCCTGGGCCTGGGCCTGGGCCTG GGCCTG		NOP56	ENSG00000101361.17	transcript	ENST00000329276.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(35): Show AGAGAGAGAGAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	182	0.0055	42	c.178 others(61): Show c.178-25798_178-25797insAGAGAGAGGAGAGAGAGAGAGAAGAG AGAAGAGAGGAGAGAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(35): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00609.hp1 HG01169.hp1 NA19001.hp1 HG00609.hp1 HG01169.hp1 NA19001.hp1	a0018 a0018	a0018c0025 a0018c0050 a0018c0025 a0018c0050	a0018c0025t0001 a0018c0025t0003 a0018c0050t0001 a0018c0025t0001 a0018c0025t0003 a0018c0050t0001	a0018c0025t0001g0189 a0018c0025t0003g0113 a0018c0050t0001g0200 a0018c0025t0001g0189 a0018c0025t0003g0113 a0018c0050t0001g0200	3	260	0.0115	42	c.44_ others(47): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GG	p.Gly others(53): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(35): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03654.hp2 HG03654.hp2	a0018 a0018	a0018c0047 a0018c0047	a0018c0047t0014 a0018c0047t0014	a0018c0047t0014g0114 a0018c0047t0014g0114	1	260	0.0039	42	c.44_ others(47): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA GG	p.Gly others(53): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOX1_chrX_100838324_100879359	100853288	T T	TTCTCTCT others(35): Show TTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	302	0.0033	42	c.805 others(59): Show c.805-1964_805-1963insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAGAGAGA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NOX1_chrX_100838324_100879359	100853290	C C	CTTTCTTT others(35): Show CTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	302	0.0033	42	c.805 others(59): Show c.805-1966_805-1965insAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAGAGAGAAAGAAA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NOX1_chrX_100838324_100879359	100853294	C C	CTTTCTCT others(35): Show CTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0174 a0002c0002t0001g0174	1	302	0.0033	42	c.805 others(59): Show c.805-1970_805-1969insAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAGAGAGAAA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NOX1_chrX_100838324_100879359	100853298	C C	CTCTCTCT others(35): Show CTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	302	0.0033	42	c.805 others(59): Show c.805-1974_805-1973insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAGAGA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NOX1_chrX_100838324_100879359	100853302	C C	CTCTCTCT others(35): Show CTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03540.hp1 HG06807.hp1 others(1): Show HG02622.hp1 HG03540.hp1 HG06807.hp1 NA18972.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0227 a0001c0001t0001g0256 a0002c0002t0001g0242 others(1): Show a0001c0001t0001g0227 a0001c0001t0001g0256 a0002c0002t0001g0242 a0002c0002t0001g0270	4	302	0.0133	42	c.805 others(59): Show c.805-1978_805-1977insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAGAGA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NPAS3_chr14_32933879_33809173	32938486	T T	TGAGAGAG others(35): Show TGAGAGAGAGAGAGAAATTGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA19043.hp2 HG02717.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0040 a0001c0001t0005g0032 a0001c0001t0002g0040 a0001c0001t0005g0032	2	92	0.0217	42	c.-83 others(51): Show c.-831_-830insGAGAGAGAGAGAGAAATTGAGAGAGAGAGAGAGAGA GAGAGA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					392		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33301306	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19043.hp1 HG03195.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0017 a0002c0002t0001g0056 a0001c0001t0003g0017 a0002c0002t0001g0056	2	92	0.0217	42	c.386 others(61): Show c.386-65863_386-65862insATATATATATATATATATATATATAT ATATATATATATATAT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp1 NA19043.hp1 HG03195.hp2 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0020 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020	a0001c0001t0003g0017 a0001c0001t0006g0021 a0001c0001t0020g0008 a0001c0001t0003g0017 a0001c0001t0006g0021 a0001c0001t0020g0008	3	92	0.0326	42	c.386 others(61): Show c.386-58658_386-58657insTATATATATATATATATATATATATA TATATACACACACACA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544799	T T	TATATATA others(35): Show TATATATATGTGTATATATAATATATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19030.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0003 a0003c0010t0003 a0001c0001t0003 a0003c0010t0003	a0001c0001t0003g0017 a0003c0010t0003g0072 a0001c0001t0003g0017 a0003c0010t0003g0072	2	92	0.0217	42	c.469 others(61): Show c.469-15314_469-15313insGTGTATATATAATATATATATATGTG TATATATAATATATAT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105508	T T	TGGGGGTG others(35): Show TGGGGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG01884.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0026 a0001c0002t0026g0026	2	355	0.0056	42	c.28 others(51): Show c.280_*321dupCCCACCACCCCCACCATCACCCCCATCATCACGCCC ACCCCC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				321		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105551	G G	GGGGGTGG others(35): Show GGGGGTGGGCGTGATGGTGGGGGTGATGATGGGGGTGGTGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02615.hp1 others(6): Show HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02818.hp1 HG03098.hp2 HG03209.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0036 a0001c0002t0074 others(1): Show a0001c0002t0014 a0001c0002t0036 a0001c0002t0074 a0001c0002t0075	a0001c0002t0014g0013 a0001c0002t0036g0031 a0001c0002t0074g0060 others(1): Show a0001c0002t0014g0013 a0001c0002t0036g0031 a0001c0002t0074g0060 a0001c0002t0075g0061	9	355	0.0254	42	c.27 others(51): Show c.278_*279insGCCCACCACCCCCATCATCACCCCCACCATCACGCC CACCCC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				278		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105613	G G	GGGTGATG others(35): Show GGGTGATGATGGGGGTGGGGGTGGGGGTGATGGTGGGCGTGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02630.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0038 a0001c0001t0031g0038	2	355	0.0056	42	c.21 others(51): Show c.216_*217insATCACGCCCACCATCACCCCCACCCCCACCCCCATC ATCACC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				216		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105613	G G	GGGTGGGC others(35): Show GGGTGGGCGTGATGATGGGGGTGGGGGTGGTGGTGGGGGTGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0071 a0003c0004t0071	a0003c0004t0071g0049 a0003c0004t0071g0049	1	355	0.0028	42	c.21 others(51): Show c.216_*217insATCACCCCCACCACCACCCCCACCCCCATCATCACG CCCACC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				216		chr20	TogoVar
NPFFR1_chr10_70242329_70289004	70272244	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0103 a0001c0001t0015g0103	1	368	0.0027	42	c.8-5 others(55): Show c.8-5854_8-5853insTCTTCTTCTTTCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3						chr10	TogoVar
NPIPB2_chr16_11922373_11947045	11927441	G G	GTTCCACC others(35): Show GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCAGGTGGTGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 HG03041.hp2 HG03098.hp1 HG02109.hp1 HG03041.hp2 HG03098.hp1	a0002 a0002	a0002c0014 a0002c0024 a0002c0014 a0002c0024	a0002c0014t0000 a0002c0024t0000 a0002c0014t0000 a0002c0024t0000	a0002c0014t0000g0277 a0002c0014t0000g0293 a0002c0024t0000g0283 a0002c0014t0000g0277 a0002c0014t0000g0293 a0002c0024t0000g0283	3	414	0.0073	42	c.112 others(51): Show c.1125_1126insTCACCACCTGAACCCAAGAGGCGGAGGGCCGCTGAG GTGGAA	p.Glu others(55): Show p.Glu375_Pro376insSerProProGluProLysArgArgArgAlaAl aGluValGlu	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	8/8	1125/1194	1125/1194	375/397			chr16	TogoVar
NPIPB2_chr16_11922373_11947045	11927441	G G	GTTCCACC others(35): Show GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02886.hp1 HG02976.hp2 HG03486.hp2 others(1): Show HG02886.hp1 HG02976.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0000 a0001c0013t0000	a0001c0013t0000g0046 a0001c0013t0000g0047 a0001c0013t0000g0048 others(1): Show a0001c0013t0000g0046 a0001c0013t0000g0047 a0001c0013t0000g0048 a0001c0013t0000g0049	4	414	0.0097	42	c.108 others(51): Show c.1084_1125dupTCACCACCCGAACCCAAGAGGCGGAGGGCCGCTGAG GTGGAA	p.Glu others(55): Show p.Glu375_Pro376insSerProProGluProLysArgArgArgAlaAl aGluValGlu	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	8/8	1125/1194	1125/1194	375/397			chr16	TogoVar
NPIPB2_chr16_11922373_11947045	11927453	C C	CGGCCCTC others(35): Show CGGCCCTCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0000 a0002c0022t0000	a0002c0022t0000g0285 a0002c0022t0000g0285	1	414	0.0024	42	c.111 others(51): Show c.1113_1114insACTGAGGTGGAATCACCACCCGAACCCAAGAGGCGG AGGGCC	p.Ala others(55): Show p.Ala371_Ala372insThrGluValGluSerProProGluProLysAr gArgArgAla	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	8/8	1113/1194	1113/1194	371/397			chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456530	T T	TGCCTCTT others(35): Show TGCCTCTTGGGCTTGGGCGATTGTTCCACCTCATCCACCCTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03927.hp2 HG03927.hp2	a0031 a0031	a0031c0023 a0031c0023	a0031c0023t0033 a0031c0023t0033	a0031c0023t0033g0042 a0031c0023t0033g0042	1	382	0.0026	42	c.109 others(51): Show c.1097_1138dupGGAGGGTGGATGAGGTGGAACAATCGCCCAAGCCCA AGAGGC	p.Arg others(55): Show p.Arg379_Gln380insArgArgValAspGluValGluGlnSerProLy sProLysArg	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3036/3238	1138/1245	380/414			chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456547	C C	CGATTGTT others(35): Show CGATTGTTCCACCTCATCCACCCTCCGCCTCTTGGGTTTCGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(101): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02698.hp2 HG02809.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG04228.hp1 NA18522.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18975.hp2 NA18979.hp1 NA18998.hp1 NA19007.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19081.hp2 NA19082.hp2 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0007 a0010 others(12): Show a0002 a0007 a0010 a0011 a0013 a0014 a0015 a0016 a0021 a0025 a0026 a0027 a0028 a0030 a0034	a0002c0002 a0007c0006 a0010c0012 others(12): Show a0002c0002 a0007c0006 a0010c0012 a0011c0013 a0013c0016 a0014c0017 a0015c0018 a0016c0019 a0021c0025 a0025c0033 a0026c0029 a0027c0030 a0028c0028 a0030c0034 a0034c0045	a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 others(37): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0031 a0002c0002t0032 a0002c0002t0034 a0002c0002t0035 a0002c0002t0037 a0002c0002t0038 a0002c0002t0041 a0002c0002t0043 a0002c0002t0046 a0002c0002t0061 a0007c0006t0005 a0007c0006t0007 a0007c0006t0020 a0007c0006t0026 a0007c0006t0044 a0007c0006t0045 a0007c0006t0047 a0010c0012t0002 a0011c0013t0002 a0011c0013t0036 a0013c0016t0005 a0014c0017t0005 a0015c0018t0011 a0015c0018t0039 a0016c0019t0021 a0021c0025t0002 a0025c0033t0030 a0026c0029t0065 a0027c0030t0002 a0028c0028t0042 a0030c0034t0002 a0034c0045t0001	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 others(89): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0009g0005 a0002c0002t0009g0039 a0002c0002t0009g0040 a0002c0002t0009g0041 a0002c0002t0011g0083 a0002c0002t0011g0085 a0002c0002t0011g0086 a0002c0002t0014g0012 a0002c0002t0014g0112 a0002c0002t0015g0131 a0002c0002t0015g0132 a0002c0002t0015g0133 a0002c0002t0017g0036 a0002c0002t0017g0037 a0002c0002t0018g0044 a0002c0002t0018g0045 a0002c0002t0019g0049 a0002c0002t0031g0035 a0002c0002t0032g0038 a0002c0002t0034g0043 a0002c0002t0035g0046 a0002c0002t0037g0050 a0002c0002t0038g0051 a0002c0002t0041g0089 a0002c0002t0043g0091 a0002c0002t0046g0111 a0002c0002t0061g0332 a0007c0006t0005g0094 a0007c0006t0005g0095 a0007c0006t0005g0096 a0007c0006t0005g0097 a0007c0006t0005g0098 a0007c0006t0005g0102 a0007c0006t0005g0103 a0007c0006t0005g0104 a0007c0006t0007g0137 a0007c0006t0020g0092 a0007c0006t0020g0093 a0007c0006t0026g0030 a0007c0006t0044g0109 a0007c0006t0045g0110 a0007c0006t0047g0113 a0010c0012t0002g0070 a0010c0012t0002g0071 a0010c0012t0002g0072 a0010c0012t0002g0080 a0011c0013t0002g0064 a0011c0013t0002g0079 a0011c0013t0036g0047 a0013c0016t0005g0100 a0013c0016t0005g0101 a0014c0017t0005g0105 a0014c0017t0005g0106 a0015c0018t0011g0084 a0015c0018t0039g0087 a0016c0019t0021g0107 a0016c0019t0021g0108 a0021c0025t0002g0077 a0025c0033t0030g0034 a0026c0029t0065g0339 a0027c0030t0002g0054 a0028c0028t0042g0090 a0030c0034t0002g0078 a0034c0045t0001g0286	104	382	0.2723	42	c.112 others(51): Show c.1121_1122insACCGAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser374_Pro375insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3019/3238	1121/1245	374/414			chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456547	C C	CGATTGTT others(35): Show CGATTGTTCCACCTCATCCACCCTCCGCCTCTTGGGTTTGGGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp2 HG00408.hp2	a0038 a0038	a0038c0047 a0038c0047	a0038c0047t0008 a0038c0047t0008	a0038c0047t0008g0324 a0038c0047t0008g0324	1	382	0.0026	42	c.112 others(51): Show c.1121_1122insACCCAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser374_Pro375insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3019/3238	1121/1245	374/414			chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456556	C C	CACCTCAT others(35): Show CACCTCATCCACCCTCCGCCTCTTGGGTTTCGGTGATTGTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0019 a0002c0026t0019	a0002c0026t0019g0048 a0002c0026t0019g0048	1	382	0.0026	42	c.111 others(51): Show c.1112_1113insAGAACAATCACCGAAACCCAAGAGGCGGAGGGTGGA TGAGGT	p.Val others(55): Show p.Val371_Glu372insGluGlnSerProLysProLysArgArgArgVa lAspGluVal	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3010/3238	1112/1245	371/414			chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28639444	C C	CACACATA others(35): Show CACACATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03453.hp1 HG01106.hp1 HG03453.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0335 a0008c0009t0003g0336 a0008c0009t0003g0335 a0008c0009t0003g0336	2	351	0.0057	42	c.120 others(57): Show c.120+965_120+966insCACATATATATATATATATATATATATATA TATATATATATA		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28658481	T T	TGGAGGGT others(35): Show TGGAGGGTGGATGAGGTGGAACAATCACCCAAACCCAAGAGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19078.hp1 NA19078.hp1	a0020 a0020	a0020c0047 a0020c0047	a0020c0047t0001 a0020c0047t0001	a0020c0047t0001g0215 a0020c0047t0001g0215	1	351	0.0029	42	c.117 others(51): Show c.1175_1176insACCCAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	8/8	1300/1537	1176/1299	392/432		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28658481	T T	TGGAGGGT others(35): Show TGGAGGGTGGATGAGGTGGAACAATCACCGAAACCCAAGAGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG01071.hp1 HG01257.hp2 others(6): Show HG00280.hp1 HG01071.hp1 HG01257.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 NA18979.hp2 NA18980.hp1 NA20129.hp1	a0006 a0026 a0006 a0026	a0006c0005 a0026c0048 a0006c0005 a0026c0048	a0006c0005t0002 a0006c0005t0007 a0026c0048t0001 a0006c0005t0002 a0006c0005t0007 a0026c0048t0001	a0006c0005t0002g0179 a0006c0005t0002g0278 a0006c0005t0002g0279 others(6): Show a0006c0005t0002g0179 a0006c0005t0002g0278 a0006c0005t0002g0279 a0006c0005t0002g0280 a0006c0005t0002g0293 a0006c0005t0002g0296 a0006c0005t0002g0297 a0006c0005t0007g0295 a0026c0048t0001g0055	9	351	0.0256	42	c.117 others(51): Show c.1175_1176insACCGAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	8/8	1300/1537	1176/1299	392/432		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772588	C C	CCAACCAA others(35): Show CCAACCAAACCCAAGAGGTGGAGGGTGGATGAGGTGGAACAAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18953.hp1 NA18953.hp1	a0019 a0019	a0019c0031 a0019c0031	a0019c0031t0001 a0019c0031t0001	a0019c0031t0001g0022 a0019c0031t0001g0022	1	179	0.0056	42	c.113 others(51): Show c.1134_1135insACCAAACCCAAGAGGTGGAGGGTGGATGAGGTGGAA CAATCA	p.Pro others(55): Show p.Pro378_Pro379insThrLysProLysArgTrpArgValAspGluVa lGluGlnSer	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1821/2094	1135/1299	379/432		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772593	C C	CAAACCCA others(35): Show CAAACCCAAGAGGTGGAGGGTGGATGAGGTGGAACAATCACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp2 HG01243.hp2 HG02071.hp2 others(14): Show HG01109.hp2 HG01243.hp2 HG02071.hp2 HG02723.hp2 HG02809.hp2 HG03209.hp2 NA18953.hp2 NA18971.hp2 NA18977.hp1 NA18983.hp2 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19077.hp2 NA19080.hp2 NA19087.hp2 NA19089.hp2	a0003 a0012 a0003 a0012	a0003c0005 a0003c0006 a0012c0014 a0003c0005 a0003c0006 a0012c0014	a0003c0005t0001 a0003c0005t0002 a0003c0006t0001 others(1): Show a0003c0005t0001 a0003c0005t0002 a0003c0006t0001 a0012c0014t0001	a0003c0005t0001g0099 a0003c0005t0001g0103 a0003c0005t0001g0104 others(14): Show a0003c0005t0001g0099 a0003c0005t0001g0103 a0003c0005t0001g0104 a0003c0005t0001g0106 a0003c0005t0002g0165 a0003c0005t0002g0166 a0003c0005t0002g0167 a0003c0005t0002g0168 a0003c0006t0001g0009 a0003c0006t0001g0105 a0003c0006t0001g0107 a0003c0006t0001g0108 a0003c0006t0001g0109 a0003c0006t0001g0119 a0003c0006t0001g0156 a0012c0014t0001g0050 a0012c0014t0001g0051	17	179	0.0950	42	c.117 others(51): Show c.1175_1176insACCGAAACCCAAGAGGTGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgTrpArgValAspGluVa lGluGlnSer	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1862/2094	1176/1299	392/432		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772606	T T	TGGAGGGT others(35): Show TGGAGGGTGGATGAGGTGGAACAATCACCCAAACCCAAGAGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00423.hp1 HG00597.hp1 others(84): Show HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01496.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18955.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0000 a0001 a0004 others(10): Show a0000 a0001 a0004 a0005 a0006 a0008 a0011 a0013 a0014 a0016 a0022 a0023 a0024	a0000c0016 a0001c0001 a0001c0013 others(12): Show a0000c0016 a0001c0001 a0001c0013 a0004c0003 a0005c0008 a0005c0036 a0006c0010 a0008c0022 a0011c0018 a0013c0012 a0014c0024 a0016c0025 a0022c0030 a0023c0034 a0024c0035	a0000c0016t0001 a0001c0001t0001 a0001c0001t0003 others(14): Show a0000c0016t0001 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0013t0001 a0004c0003t0001 a0005c0008t0001 a0005c0036t0001 a0006c0010t0001 a0008c0022t0001 a0011c0018t0001 a0013c0012t0001 a0014c0024t0001 a0016c0025t0001 a0022c0030t0001 a0023c0034t0001 a0024c0035t0001	a0000c0016t0001g0003 a0000c0016t0001g0043 a0001c0001t0001g0001 others(80): Show a0000c0016t0001g0003 a0000c0016t0001g0043 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0003g0114 a0001c0001t0004g0163 a0001c0013t0001g0008 a0004c0003t0001g0016 a0004c0003t0001g0017 a0004c0003t0001g0018 a0004c0003t0001g0020 a0004c0003t0001g0026 a0004c0003t0001g0048 a0004c0003t0001g0110 a0004c0003t0001g0111 a0004c0003t0001g0112 a0004c0003t0001g0113 a0004c0003t0001g0153 a0005c0008t0001g0063 a0005c0008t0001g0064 a0005c0008t0001g0066 a0005c0008t0001g0157 a0005c0036t0001g0128 a0006c0010t0001g0127 a0006c0010t0001g0132 a0006c0010t0001g0154 a0008c0022t0001g0011 a0011c0018t0001g0029 a0011c0018t0001g0030 a0013c0012t0001g0137 a0013c0012t0001g0149 a0014c0024t0001g0142 a0016c0025t0001g0006 a0022c0030t0001g0135 a0023c0034t0001g0125 a0024c0035t0001g0065	87	179	0.4860	42	c.117 others(51): Show c.1175_1176insACCCAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1862/2094	1176/1299	392/432		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772606	T T	TGGAGGGT others(35): Show TGGAGGGTGGATGAGGTGGAACAATCACCGAAACCCAAGAGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02615.hp1 HG02615.hp2 HG02723.hp1 others(10): Show HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp2 NA19086.hp2 NA19240.hp1	a0001 a0008 a0021 a0001 a0008 a0021	a0001c0004 a0001c0019 a0008c0023 others(1): Show a0001c0004 a0001c0019 a0008c0023 a0021c0029	a0001c0004t0001 a0001c0019t0001 a0008c0023t0001 others(1): Show a0001c0004t0001 a0001c0019t0001 a0008c0023t0001 a0021c0029t0001	a0001c0004t0001g0004 a0001c0004t0001g0054 a0001c0004t0001g0056 others(9): Show a0001c0004t0001g0004 a0001c0004t0001g0054 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0059 a0001c0004t0001g0060 a0001c0004t0001g0080 a0001c0004t0001g0120 a0001c0019t0001g0052 a0008c0023t0001g0081 a0021c0029t0001g0027	13	179	0.0726	42	c.117 others(51): Show c.1175_1176insACCGAAACCCAAGAGGCGGAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1862/2094	1176/1299	392/432		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28772608	G G	GAGGGTGG others(35): Show GAGGGTGGATGAGGTGGAACAATCACCGAAACCCAAGAGGCGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0053 a0001c0033t0001g0053	1	179	0.0056	42	c.117 others(51): Show c.1175_1176insACCGAAACCCAAGAGGCGAAGGGTGGATGAGGTGGA ACAATC	p.Ser others(55): Show p.Ser392_Pro393insProLysProLysArgArgArgValAspGluVa lGluGlnSer	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1862/2094	1176/1299	392/432		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPSR1_chr7_34653218_34854978	34663067	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0128 a0004c0003t0005g0128	1	260	0.0039	42	c.147 others(59): Show c.147+4509_147+4510insCTCTCTCTCTCTCTCTCTCTCTGTGTGT GTGTGTGTGTGTGT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NR5A2_chr1_200022710_200182415	200156574	T T	TTTTTAGT others(35): Show TTTTTAGTAGAGAGGGTGTTTCACCATCTTGACCAGGCTGGTC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0194 a0005c0012t0001g0194	1	286	0.0035	42	c.137 others(63): Show c.1379-17386_1379-17345dupTTAGTAGAGAGGGTGTTTCACCAT CTTGACCAGGCTGGTCTT		NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
NR6A1_chr9_124512275_124776311	124611774	A A	AGAGAGAG others(35): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAATGAGAGAGAAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp2 HG03516.hp2 HG02976.hp1 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0045 a0001c0001t0014 a0001c0001t0017 a0001c0001t0045	a0001c0001t0014g0072 a0001c0001t0017g0066 a0001c0001t0045g0070 a0001c0001t0014g0072 a0001c0001t0017g0066 a0001c0001t0045g0070	3	234	0.0128	42	c.143 others(61): Show c.143-57205_143-57204insATTCTCTCTCATTCTCTCTCTCTCTC TCTCTCTCTCTCTCTC		NR6A1	ENSG00000148200.17	transcript	ENST00000487099.7	protein_coding	2/9						chr9	TogoVar
NRARP_chr9_137294631_137307271	137297690	A A	AGTGTGTC others(35): Show AGTGTGTCTACCCGCCCCCTAGGGCTGTGCCTGGTTTTAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	358	0.0028	42	c.38 others(53): Show c.3893_*3894insACTCTAAAACCAGGCACAGCCCTAGGGGGCGGGT AGACACAC		NRARP	ENSG00000198435.4	transcript	ENST00000356628.4	protein_coding					1940		chr9	TogoVar
NRCAM_chr7_108142649_108461436	108181317	C C	CTCAAGAT others(35): Show CTCAAGATGCCTATCAGTGCCTATCAGTGCCTATCAGTGCCTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0175 a0001c0004t0002g0175	1	208	0.0048	42	c.264 others(59): Show c.2646+504_2646+505insTAGGCACTGATAGGCACTGATAGGCACT GATAGGCATCTTGA		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	24/32						chr7	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	188	0.0053	42	c.700 others(61): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT		NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9						chr5	TogoVar
NRG3_chr10_81870194_82992178	82491295	T T	TATATATA others(35): Show TATATATATATATATATATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0064 a0003c0004t0001g0064	1	66	0.0152	42	c.953 others(63): Show c.953+132446_953+132447insCATATATATATATATATATATACA TATATATATATATATATA		NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG03486.hp2 HG01978.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0002 a0001c0001t0005 a0001c0003t0002	a0001c0001t0005g0012 a0001c0003t0002g0005 a0001c0001t0005g0012 a0001c0003t0002g0005	2	422	0.0047	42	c.-20 others(51): Show c.-208_-207insTCTCTCTCACACACACACACACACACACACACACAC ACACAC		NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding					156		chr12	TogoVar
NRSN1_chr6_24121215_24152530	24150938	A A	AAAAGAAA others(35): Show AAAAGAAAGGAAGGAAGGAAGAGAGAGAGAGAAAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	406	0.0025	42	c.49 others(53): Show c.4992_*4993insAAAGAAAGGAAGGAAGGAAGAGAGAGAGAGAAAG AGAGAGAG		NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding					3409		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50424295	A A	AAGGAGGA others(35): Show AAGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	116	0.0086	42	c.336 others(63): Show c.3364+41105_3364+41146dupCCTCCCCCTCCTCCTCCTCCTCCT CCCCCTCCTCCTCCTCCT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02300.hp2 HG02055.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0002t0033 a0001c0001t0059 a0001c0002t0033	a0001c0001t0059g0060 a0001c0002t0033g0097 a0001c0001t0059g0060 a0001c0002t0033g0097	2	116	0.0172	42	c.833 others(61): Show c.833-60032_833-60031insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22						chr2	TogoVar
NSD1_chr5_177128773_177305213	177158999	T T	TATATATA others(35): Show TATATATATATATATGAATGATATATATATATATATATGAATG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0002 a0008c0015t0002	a0008c0015t0002g0116 a0008c0015t0002g0116	1	298	0.0034	42	c.927 others(61): Show c.927+22983_927+22984insGAATGATATATATATATATATATGAA TGATATATATATATAT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177159001	T T	TATATATA others(35): Show TATATATATATATATATGAATGATATATATATATATATGAATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03130.hp2 HG03579.hp2 HG01167.hp1 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0113 a0001c0003t0007g0128 a0001c0003t0007g0134 a0001c0003t0007g0113 a0001c0003t0007g0128 a0001c0003t0007g0134	3	298	0.0101	42	c.927 others(61): Show c.927+22987_927+22988insGAATGATATATATATATATATGAATG ATATATATATATATAT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr5	TogoVar

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