Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTTT others(24): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG01167.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0068 a0001c0001t0031 a0001c0001t0068	a0001c0001t0031g0059 a0001c0001t0068g0133 a0001c0001t0031g0059 a0001c0001t0068g0133	2	144	0.0139	31	c.472 others(50): Show c.472-34994_472-34993insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKX1-2_chr10_124440243_124455035	124444486	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	1	446	0.0022	31	c.29 others(42): Show c.2942_*2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		756		chr10	TogoVar
NLGN4Y_chrY_14519529_14850654	14554199	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	121	0.0083	31	c.-11 others(52): Show c.-112+29516_-112+29517insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	NLGN4Y	ENSG00000165246.15	transcript	ENST00000684976.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrY	TogoVar
NLRC3_chr16_3534033_3582403	3569395	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0022 a0006c0010t0022	a0006c0010t0022g0140 a0006c0010t0022g0140	1	396	0.0025	31	c.-16 others(50): Show c.-168-2072_-168-2071insTATATATATATATATATATATATATA TATAT	NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	1/19			chr16	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG01943.hp1 others(2): Show HG01261.hp2 HG01346.hp2 HG01943.hp1 HG02293.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(2): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190	5	394	0.0127	31	c.-11 others(50): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0318 a0001c0013t0001g0318	1	429	0.0023	31	c.326 others(46): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984485	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0244 a0002c0003t0003g0244	1	429	0.0023	31	c.203 others(48): Show c.2031-547_2031-546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993551	C C	CCCCTCCC others(24): Show CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02004.hp2 HG01361.hp1 HG02004.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0010 a0006c0018t0023 a0006c0018t0010 a0006c0018t0023	a0006c0018t0010g0244 a0006c0018t0023g0245 a0006c0018t0010g0244 a0006c0018t0023g0245	2	350	0.0057	31	c.56 others(42): Show c.5638_*5639insCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4923		chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19086.hp2 NA19010.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0018	2	413	0.0048	31	c.48 others(42): Show c.4818_*4819insAAAAAAAAAATATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	31	c.48 others(42): Show c.4818_*4819insAAAAAATATATATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME4_chr16_392199_405754	392748	A A	AGTTCCTT others(24): Show AGTTCCTTGTCATGGGGGCCTCCGCACAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	356	0.0028	31	c.-44 others(42): Show c.-4475_-4474insGTTCCTTGTCATGGGGGCCTCCGCACAGGGC	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding		4450		chr16	TogoVar
NME7_chr1_169127531_169372797	169342518	G G	GTATATAT others(24): Show GTATATATATACAAGTACATATATATAGTATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	302	0.0033	31	c.4-1 others(46): Show c.4-18049_4-18019dupTATACTATATATATGTACTTGTATATATAT A	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME7_chr1_169127531_169372797	169342597	C C	CATATATA others(24): Show CATATATATAGTATATATATATACAAGTACAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01496.hp1 others(12): Show HG00741.hp2 HG01175.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG02559.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04204.hp1 NA18948.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0004g0058	15	302	0.0497	31	c.4-1 others(46): Show c.4-18128_4-18098dupATGTACTTGTATATATATATACTATATATA T	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME7_chr1_169127531_169372797	169342746	C C	CATATATA others(24): Show CATATATATAGTATATATATATACAAGTACAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG01496.hp1 HG01175.hp2 HG01346.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0074	3	302	0.0099	31	c.4-1 others(46): Show c.4-18277_4-18247dupATGTACTTGTATATATATATACTATATATA T	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37847185	G G	GAGAAGAA others(24): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	388	0.0026	31	c.-17 others(42): Show c.-1784_-1783insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1411		chr7	TogoVar
NME8_chr7_37843597_37905397	37847911	A A	AGAAGAAG others(24): Show AGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 NA20805.hp1 HG01981.hp1 NA20805.hp1	a0006 a0008 a0006 a0008	a0006c0011 a0008c0013 a0006c0011 a0008c0013	a0006c0011t0002 a0008c0013t0002 a0006c0011t0002 a0008c0013t0002	a0006c0011t0002g0300 a0008c0013t0002g0023 a0006c0011t0002g0300 a0008c0013t0002g0023	2	388	0.0052	31	c.-10 others(42): Show c.-1058_-1057insGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		685		chr7	TogoVar
NMUR2_chr5_152386546_152410279	152397012	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03490.hp2 NA20300.hp1 HG01358.hp1 HG03490.hp2 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0072 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0072	3	446	0.0067	31	c.811 others(48): Show c.811+1047_811+1048insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding	2/3			chr5	TogoVar
NOL10_chr2_10565754_10694975	10616882	C C	CCCTCCCC others(24): Show CCCTCCCCATTCACTTATTCAACAAAGAGTTA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	372	0.0027	31	c.102 others(50): Show c.1027-9602_1027-9572dupTAACTCTTTGTTGAATAAGTGAATGG GGAGG	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10690415	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01358.hp2 HG01099.hp1 HG01358.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0121 a0002c0003t0003g0124 a0002c0003t0003g0121 a0002c0003t0003g0124	2	372	0.0054	31	c.-55 others(40): Show c.-555_-554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding		441		chr2	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	168	0.0060	31	c.773 others(48): Show c.773-4594_773-4593insATATATATATATATATATATATTTTTTT TTT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	168	0.0060	31	c.773 others(48): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0269 a0001c0001t0007g0269	1	337	0.0030	31	c.180 others(48): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT TTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(24): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG03453.hp1 HG02109.hp1 HG02886.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0019 a0001c0003t0010 a0001c0001t0002 a0001c0001t0019 a0001c0003t0010	a0001c0001t0002g0067 a0001c0001t0019g0062 a0001c0003t0010g0068 a0001c0001t0002g0067 a0001c0001t0019g0062 a0001c0003t0010g0068	3	182	0.0165	31	c.105 others(50): Show c.105+11493_105+11494insATATATATTTTTTTTTTTTTTTTTTT TTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(24): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0063 a0001c0005t0007g0063	1	182	0.0055	31	c.105 others(50): Show c.105+11493_105+11494insATATATTTTTTTTTTTTTTTTTTTTT TTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02071.hp1 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0018 a0001c0002t0001 a0001c0003t0018	a0001c0002t0001g0018 a0001c0003t0018g0044 a0001c0002t0001g0018 a0001c0003t0018g0044	2	182	0.0110	31	c.177 others(50): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041069	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	168	0.0060	31	c.74- others(48): Show c.74-11083_74-11082insATATATATATATATATATATATATATAT ATA	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp2 HG02280.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0002 a0001c0002t0002 a0001c0008t0002	a0001c0002t0002g0035 a0001c0008t0002g0019 a0001c0002t0002g0035 a0001c0008t0002g0019	2	168	0.0119	31	c.74- others(48): Show c.74-11085_74-11084insATATATATATATATATATATATATATAT ATT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOX3_chr6_155390368_155460839	155445981	C C	CTATATAT others(24): Show CTATATATATATATATATATATATATGCTATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0144 a0001c0003t0001g0144	1	362	0.0028	31	c.341 others(48): Show c.341-2564_341-2563insTATAGCATATATATATATATATATATAT ATA	NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	4/13			chr6	TogoVar
NOX5_chr15_69009695_69067762	69045599	T T	TTTCTTCC others(24): Show TTTCTTCCCTTTCTTTCTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	396	0.0025	31	c.164 others(50): Show c.1648-1221_1648-1220insCTTCCCTTTCTTTCTTTTTTCTTTCT TTCTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(24): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG03453.hp1 NA19043.hp1 HG02897.hp1 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0024 a0001c0001t0003 a0001c0001t0020 a0001c0001t0024	a0001c0001t0003g0017 a0001c0001t0020g0008 a0001c0001t0024g0009 a0001c0001t0003g0017 a0001c0001t0020g0008 a0001c0001t0024g0009	3	92	0.0326	31	c.-79 others(40): Show c.-793_-792insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding		354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544827	A A	ATATATAT others(24): Show ATATATATATATTATATATATATATAATTATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0027 a0002c0002t0011g0027	1	92	0.0109	31	c.469 others(50): Show c.469-15293_469-15292insATATATATATTATATATATATATAAT TATGT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105567	A A	ATGGGGGG others(24): Show ATGGGGGGTGGGCGTGATGATGGGGGTGATGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0055 a0001c0002t0050g0055	1	355	0.0028	31	c.26 others(40): Show c.262_*263insCCATCACCCCCATCATCACGCCCACCCCCCA	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	262		chr20	TogoVar
NPC1L1_chr7_44507535_44546330	44543314	T T	TGGATCTT others(24): Show TGGATCTTCTCCTCTTCTGGTGCTGACTGTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	320	0.0031	31	c.-20 others(42): Show c.-2056_-2055insCGACAGTCAGCACCAGAAGAGGAGAAGATCC	NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding		1985		chr7	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03239.hp2 HG01243.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0210 a0001c0001t0008g0335 a0001c0001t0002g0210 a0001c0001t0008g0335	2	342	0.0059	31	c.255 others(48): Show c.255+6670_255+6671insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPFFR1_chr10_70242329_70289004	70272211	G G	GAAAGAAA others(24): Show GAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	368	0.0027	31	c.8-5 others(44): Show c.8-5821_8-5820insTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTT	NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3			chr10	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	208	0.0048	31	c.517 others(48): Show c.517+2357_517+2358insAAAAAAAAAAAAATATATATATATATAT ATA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5991402	C C	CACCATCA others(24): Show CACCATCAACAGAAATACTCCTCCTTTTGCCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0042 a0009c0013t0001g0042	1	208	0.0048	31	c.-39 others(46): Show c.-39+811_-39+841dupTGGCAAAAGGAGGAGTATTTCTGTTGATGG T	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	1/29			chr1	TogoVar
NPIPB11_chr16_29376310_29411711	29396441	A A	AAGAAGCT others(24): Show AAGAAGCTAACCTATGTCTGGTTGGCTTTCTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0287 a0007c0007t0002g0287	1	428	0.0023	31	c.121 others(48): Show c.121-2366_121-2365insCAGAAAGCCAACCAGACATAGGTTAGCT TCT	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	2/7			chr16	TogoVar
NPRL3_chr16_80386_143673	138346	G G	GAGGCGGG others(24): Show GAGGCGGGGACGCAGGGGGCCTGAGGAGGGCA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0133 a0009c0009t0002g0133	1	350	0.0029	31	c.-67 others(44): Show c.-67-13_-67-12insTGCCCTCCTCAGGCCCCCTGCGTCCCCGCCT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	1/13			chr16	TogoVar
NPSR1_chr7_34653218_34854978	34790969	A A	ATATCATA others(24): Show ATATCATATATGTTATGTTATATTATATATGT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0013 a0003c0007t0004g0013	1	260	0.0039	31	c.384 others(50): Show c.384+12407_384+12408insCATATATGTTATGTTATATTATATAT GTTAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTN_chr15_73555014_73638389	73580401	T T	TATATATA others(24): Show TATATATATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18986.hp2 NA19081.hp1 NA18952.hp1 NA18986.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0145 a0001c0001t0001g0024 a0001c0001t0001g0145	3	342	0.0088	31	c.707 others(48): Show c.707-6637_707-6607dupTATATATATATTATATATATATTATATA TAT	NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding	4/8			chr15	TogoVar
NQO2_chr6_2994894_3024755	3016430	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	446	0.0022	31	c.418 others(46): Show c.418-434_418-433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	NQO2	ENSG00000124588.22	transcript	ENST00000380455.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NR1I3_chr1_161224669_161243203	161225114	G G	GTGGGGGG others(24): Show GTGGGGGGGTAGGGGGTGGTGTGTGGGGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	436	0.0023	31	c.46 others(42): Show c.4682_*4683insTTTCCCCCACACACCACCCCCTACCCCCCCA	NR1I3	ENSG00000143257.12	transcript	ENST00000367983.9	protein_coding		4554		chr1	TogoVar
NR3C2_chr4_148073764_148447414	148363504	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	170	0.0059	31	c.175 others(52): Show c.1757+71599_1757+71600insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRBF2_chr10_63128328_63160024	63142780	C C	CTTTCTTT others(24): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0135 a0001c0001t0006g0135	1	392	0.0026	31	c.31- others(46): Show c.31-3426_31-3425insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NRBF2	ENSG00000148572.16	transcript	ENST00000277746.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRCAM_chr7_108142649_108461436	108153407	A A	AAACATTA others(24): Show AAACATTAGGAATAGAATGTATTTTTATTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0019 a0002c0022t0019	a0002c0022t0019g0168 a0002c0022t0019g0168	1	208	0.0048	31	c.367 others(50): Show c.3678-3291_3678-3261dupAGGAATAAAAATACATTCTATTCCTA ATGTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	32/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108163768	A A	AGGTGGGG others(24): Show AGGTGGGGTGGCGGTAATGAGAGGTCATACCG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0049 a0001c0009t0002g0049	1	208	0.0048	31	c.346 others(50): Show c.3466+3122_3466+3152dupCGGTATGACCTCTCATTACCGCCACC CCACC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108163925	T T	TGGGGTGG others(24): Show TGGGGTGGGGTAGTGAGAGGTCATACCGGGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG04115.hp1 HG01109.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0117 a0001c0001t0001g0008 a0001c0001t0001g0117	2	208	0.0096	31	c.346 others(50): Show c.3466+2995_3466+2996insCACCCGGTATGACCTCTCACTACCCC ACCCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0039 a0002c0007t0002g0039	1	208	0.0048	31	c.-10 others(52): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTTTTT TTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(24): Show AAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0016 a0002c0005t0003g0016	1	208	0.0048	31	c.-10 others(52): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT TTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar

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