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
NLRP12_chr19_53788741_53829314	53819437	ATATATAT others(25): Show ATATATATATATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0212 a0002c0004t0002g0212	1	416	0.0024	-32	c.289 others(49): Show c.289+4417_289+4448delCACACACACACATATATATATATATATA TATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55890986	GGCTCCCG others(25): Show GGCTCCCGAGACAAGACAACCACGCCCGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0238 a0001c0004t0001g0238	1	440	0.0023	-32	c.49 others(43): Show c.4927_*4958delTCTTTCGGGCGTGGTTGTCTTGTCTCGGGAGC	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding		4958		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55986441	CACTCTCT others(25): Show CACTCTCTCTCTCACACACACACTCTCTCACAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01099.hp2 HG01255.hp2 others(4): Show HG01071.hp1 HG01099.hp2 HG01255.hp2 HG01515.hp1 HG02004.hp1 HG02258.hp1 HG02698.hp2	a0000 a0000	a0000c0008 a0000c0023 a0000c0052 a0000c0008 a0000c0023 a0000c0052	a0000c0008t0011 a0000c0008t0051 a0000c0023t0011 others(1): Show a0000c0008t0011 a0000c0008t0051 a0000c0023t0011 a0000c0052t0011	a0000c0008t0011g0047 a0000c0008t0011g0048 a0000c0008t0011g0072 others(4): Show a0000c0008t0011g0047 a0000c0008t0011g0048 a0000c0008t0011g0072 a0000c0008t0051g0045 a0000c0023t0011g0262 a0000c0023t0011g0288 a0000c0052t0011g0046	7	350	0.0200	-32	c.304 others(51): Show c.3048-1370_3048-1339delTCTCTCTCTCACACACACACTCTCTC ACATAC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NME8_chr7_37843597_37905397	37882581	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19002.hp1 HG02970.hp1 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0164 a0003c0003t0002g0340 a0001c0001t0001g0164 a0003c0003t0002g0340	2	388	0.0052	-32	c.995 others(49): Show c.995-1702_995-1671delGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389736	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 NA18522.hp1 HG02280.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0048 a0001c0001t0085 a0001c0001t0009 a0001c0001t0048 a0001c0001t0085	a0001c0001t0009g0220 a0001c0001t0048g0174 a0001c0001t0085g0198 a0001c0001t0009g0220 a0001c0001t0048g0174 a0001c0001t0085g0198	3	258	0.0116	-32	c.85+ others(49): Show c.85+28415_85+28446delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183389813	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0115 a0001c0001t0093g0115	1	258	0.0039	-32	c.85+ others(49): Show c.85+28338_85+28369delCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139596916	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	322	0.0031	-32	c.110 others(51): Show c.110-17893_110-17862delTATATATATATATATATATATATATA TATATA	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6			chr3	TogoVar
NMT2_chr10_15100770_15173693	15112200	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0205	1	276	0.0036	-32	c.133 others(49): Show c.1338+564_1338+595delAAAAAAAAAAAAAAAATATATATATATA TATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15112202	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp2 HG02809.hp1 others(3): Show HG00438.hp1 HG02155.hp2 HG02809.hp1 NA18955.hp2 NA18982.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0040 a0001c0002t0002 a0001c0001t0002 a0001c0001t0040 a0001c0002t0002	a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0037 others(3): Show a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0173 a0001c0001t0040g0062 a0001c0002t0002g0017	6	276	0.0217	-32	c.133 others(49): Show c.1338+562_1338+593delAAAAAAAAAAAAAAAAAATATATATATA TATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15112204	ATATATAT others(25): Show ATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG02818.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0042 a0001c0002t0002g0142 a0001c0001t0002g0042 a0001c0002t0002g0142	2	276	0.0073	-32	c.133 others(49): Show c.1338+560_1338+591delAAAAAAAAAAAAAAAAAAAATATATATA TATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NOL3_chr16_67165538_67180737	67176054	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	298	0.0034	-32	c.10 others(43): Show c.1001_*1032delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NOL3	ENSG00000140939.15	transcript	ENST00000564992.2	protein_coding		318		chr16	TogoVar
NOL4L_chr20_32438059_32590333	32488795	CTTTCTTT others(25): Show CTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01516.hp2 HG02109.hp2 others(2): Show HG00558.hp1 HG01516.hp2 HG02109.hp2 HG02145.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0040 a0001c0001t0042	a0001c0001t0001g0187 a0001c0001t0002g0024 a0001c0001t0014g0052 others(2): Show a0001c0001t0001g0187 a0001c0001t0002g0024 a0001c0001t0014g0052 a0001c0001t0040g0162 a0001c0001t0042g0011	5	196	0.0255	-32	c.700 others(51): Show c.700-14085_700-14054delAAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAA	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOLC1_chr10_102147389_102168870	102156496	CCTAGGTT others(25): Show CCTAGGTTCAAGTGATTCTCCTGCTTCAGCCTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp2 HG06807.hp1 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0001 a0005c0014t0015 a0001c0001t0001 a0005c0014t0015	a0001c0001t0001g0107 a0005c0014t0015g0074 a0001c0001t0001g0107 a0005c0014t0015g0074	2	408	0.0049	-32	c.121 others(47): Show c.121-511_121-480delTGATTCTCCTGCTTCAGCCTTCTAGGTTCA AG	NOLC1	ENSG00000166197.17	transcript	ENST00000605788.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
NOP14_chr4_2932936_2968406	2945903	GCTGCCGT others(25): Show GCTGCCGTGCACTCTCACTCCAGATCACCCTCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02071.hp2 HG03041.hp2 HG01099.hp1 HG02071.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0109 a0002c0002t0001g0262 a0002c0002t0003g0260 a0001c0001t0001g0109 a0002c0002t0001g0262 a0002c0002t0003g0260	3	422	0.0071	-32	c.163 others(49): Show c.1635+477_1635+508delTGAGGGTGATCTGGAGTGAGAGTGCACG GCAG	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	11/17			chr4	TogoVar
NOS1AP_chr1_162064691_162375475	162289248	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01099.hp2 others(29): Show HG00544.hp1 HG00558.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02965.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA18747.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18994.hp1 NA18994.hp2 NA19007.hp1 NA19058.hp1 NA19068.hp1 NA19074.hp1 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 a0001c0003t0007 a0001c0004t0003	a0001c0001t0001g0020 a0001c0001t0001g0127 a0001c0001t0002g0009 others(29): Show a0001c0001t0001g0020 a0001c0001t0001g0127 a0001c0001t0002g0009 a0001c0001t0002g0053 a0001c0001t0002g0081 a0001c0001t0002g0093 a0001c0001t0002g0122 a0001c0001t0002g0140 a0001c0001t0002g0161 a0001c0001t0004g0150 a0001c0001t0005g0072 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0011g0005 a0001c0001t0017g0051 a0001c0002t0001g0040 a0001c0002t0001g0052 a0001c0002t0001g0153 a0001c0002t0001g0162 a0001c0002t0002g0039 a0001c0002t0002g0105 a0001c0002t0002g0182 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0110 a0001c0002t0004g0119 a0001c0002t0004g0124 a0001c0002t0004g0169 a0001c0003t0003g0054 a0001c0003t0003g0149 a0001c0003t0007g0073 a0001c0004t0003g0061	32	182	0.1758	-32	c.270 others(49): Show c.270+1814_270+1845delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162299247	ATGGCTGG others(25): Show ATGGCTGGAACATTAAAAGGCTGTGTCTCTATG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0141 a0001c0004t0006g0141	1	182	0.0055	-32	c.271 others(49): Show c.271-1353_271-1322delTGGCTGGAACATTAAAAGGCTGTGTCTC TATG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117359874	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19057.hp1 HG03704.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0099 a0001c0008t0025 a0001c0001t0099 a0001c0008t0025	a0001c0001t0099g0036 a0001c0008t0025g0035 a0001c0001t0099g0036 a0001c0008t0025g0035	2	294	0.0068	-32	c.-42 others(51): Show c.-421+1606_-421+1637delTATATATATATATATATATATATATA TATAAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp1 NA19000.hp2 HG02818.hp1 HG03486.hp1 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0150 a0001c0005t0010 a0001c0011t0016 a0001c0002t0150 a0001c0005t0010 a0001c0011t0016	a0001c0002t0150g0287 a0001c0005t0010g0134 a0001c0011t0016g0286 a0001c0002t0150g0287 a0001c0005t0010g0134 a0001c0011t0016g0286	3	294	0.0102	-32	c.-42 others(51): Show c.-421+1604_-421+1635delTATATATATATATATATATATATATA TATATA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS3_chr7_150986017_151019588	150995594	CCCCCGTC others(25): Show CCCCCGTCCCCTGCCTGCATTCCTCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	382	0.0026	-32	c.270 others(47): Show c.270+285_270+316delGTCCCCTGCCTGCATTCCTCCTCCCTCTCC CC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150995917	TGTCCCAT others(25): Show TGTCCCATCCCTGCACCCTTCCTCCCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG00140.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0265 a0001c0001t0001g0148 a0001c0001t0001g0265	2	382	0.0052	-32	c.271 others(47): Show c.271-437_271-406delTTCCTCCCTCTCCCCGTCCCATCCCTGCAC CC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150996045	CCCCTACC others(25): Show CCCCTACCCCACCTCTGCACCCCTCCTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02258.hp2 others(1): Show HG01884.hp1 HG02257.hp1 HG02258.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0284 a0001c0002t0001g0059 a0001c0002t0001g0060 others(1): Show a0001c0001t0001g0284 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061	4	382	0.0105	-32	c.271 others(47): Show c.271-355_271-324delTACCCCACCTCTGCACCCCTCCTCCTTCTC CC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	151002383	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp2 HG02647.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0048 a0001c0002t0001g0049	2	382	0.0052	-32	c.175 others(49): Show c.1752+118_1752+149delACACACACACACACACACACACACACAC ACAC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH2_chr1_119906553_120074662	119999956	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 HG03098.hp2 others(1): Show HG02145.hp2 HG02895.hp1 HG03098.hp2 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0007c0014	a0001c0002t0002 a0001c0004t0008 a0001c0005t0003 others(1): Show a0001c0002t0002 a0001c0004t0008 a0001c0005t0003 a0007c0014t0002	a0001c0002t0002g0025 a0001c0004t0008g0110 a0001c0005t0003g0143 others(1): Show a0001c0002t0002g0025 a0001c0004t0008g0110 a0001c0005t0003g0143 a0007c0014t0002g0022	4	168	0.0238	-32	c.416 others(49): Show c.416-2656_416-2625delCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	3/33			chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15173086	CTTCTTCT others(25): Show CTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG02970.hp2 others(1): Show HG02922.hp2 HG02965.hp2 HG02970.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0014 a0003c0004 a0001c0014 a0003c0004	a0001c0014t0001 a0003c0004t0001 a0001c0014t0001 a0003c0004t0001	a0001c0014t0001g0309 a0001c0014t0001g0310 a0001c0014t0001g0311 others(1): Show a0001c0014t0001g0309 a0001c0014t0001g0310 a0001c0014t0001g0311 a0003c0004t0001g0075	4	340	0.0118	-32	c.473 others(49): Show c.4736+950_4736+981delAAAAAAAAAAAAAAGAAGAAGAAGAAGA AGAA	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173730	AAAAAAAA others(25): Show AAAAAAAAAAAAGAAAAGAAGAAGGAGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	340	0.0029	-32	c.473 others(49): Show c.4736+306_4736+337delCTCCTTCTCCTTCTTCTTTTCTTTTTTT TTTT	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar
NOX4_chr11_89319353_89496375	89429712	TAATTAAT others(25): Show TAATTAATAGCCTACCAACCAAAAAAGGACCAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02280.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0091 a0001c0001t0005 a0001c0001t0091	a0001c0001t0005g0178 a0001c0001t0091g0151 a0001c0001t0005g0178 a0001c0001t0091g0151	2	288	0.0069	-32	c.548 others(49): Show c.548+3040_548+3071delCTGGTCCTTTTTTGGTTGGTAGGCTATT AATT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	7/17			chr11	TogoVar
NOX4_chr11_89319353_89496375	89486539	CATATATG others(25): Show CATATATGTGTGTATATATGTGTATATATACAT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA20752.hp2 NA18941.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0019 a0001c0003t0003 a0001c0003t0019	a0001c0003t0003g0212 a0001c0003t0019g0213 a0001c0003t0003g0212 a0001c0003t0019g0213	2	288	0.0069	-32	c.153 others(49): Show c.153+3887_153+3918delATGTATATATACACATATATACACACAT ATAT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NPAS1_chr19_47014837_47050775	47033975	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	418	0.0024	-32	c.522 others(49): Show c.522+1258_522+1289delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS3_chr14_32933879_33809173	33087184	ATATAATA others(25): Show ATATAATATTGTATAATAATATAGTATTATTAT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0044 a0001c0001t0061g0044	1	92	0.0109	-32	c.140 others(51): Show c.140+31194_140+31225delAATATTGTATAATAATATAGTATTAT TATTAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPC2_chr14_74474940_74498305	74496667	TGTGGTTT others(25): Show TGTGGTTTTAAAACTCTTGAGCACGAGCAGAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	410	0.0024	-32	c.-34 others(43): Show c.-3425_-3394delGTTCTGCTCGTGCTCAAGAGTTTTAAAACCAC	NPC2	ENSG00000119655.11	transcript	ENST00000555619.6	protein_coding		3363		chr14	TogoVar
NPEPPS_chr17_47526108_47628276	47615163	TGCCTCCC others(25): Show TGCCTCCCGGGTTCACGTGATTCTCCTGCCTCA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	342	0.0029	-32	c.229 others(51): Show c.2295+1446_2295+1477delGGGTTCACGTGATTCTCCTGCCTCAG CCTCCC	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPHP4_chr1_5857811_5997425	5940326	CCTCACAA others(25): Show CCTCACAAGATGCTGGCACCTTGATCTTGGACT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	208	0.0048	-32	c.111 others(51): Show c.1119+6746_1119+6777delAGTCCAAGATCAAGGTGCCAGCATCT TGTGAG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	9/29			chr1	TogoVar
NPIPA2_chr16_14737533_14770462	14747434	TATATAGT others(25): Show TATATAGTTTATGGAGAGGGAAGTGCAGACATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0158 a0003c0003t0001g0158	1	205	0.0049	-32	c.-11 others(49): Show c.-117-351_-117-320delTATAGTTTATGGAGAGGGAAGTGCAGAC ATAA	NPIPA2	ENSG00000254852.9	transcript	ENST00000529166.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74384991	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04199.hp1 HG03710.hp2 HG04199.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0009 a0008c0012t0009	a0008c0012t0009g0087 a0008c0012t0009g0088 a0008c0012t0009g0087 a0008c0012t0009g0088	2	261	0.0077	-32	c.250 others(47): Show c.250-338_250-307delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPNT_chr4_105890471_105976671	105898296	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0002 a0010c0012t0010 a0001c0001t0002 a0010c0012t0010	a0001c0001t0002g0124 a0010c0012t0010g0123 a0001c0001t0002g0124 a0010c0012t0010g0123	2	236	0.0085	-32	c.172 others(47): Show c.172+311_172+342delGTCTCTCTCTCTCTCTGTCTCTCTCTCTCT CT	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPNT_chr4_105890471_105976671	105898312	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02965.hp1 HG02970.hp1 others(3): Show HG01975.hp2 HG02965.hp1 HG02970.hp1 NA18522.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 others(3): Show a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204	6	236	0.0254	-32	c.172 others(47): Show c.172+327_172+358delGTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPR3_chr5_32706321_32796720	32728829	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18992.hp1 HG03471.hp1 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0002c0002t0002 a0001c0001t0024 a0002c0002t0002	a0001c0001t0024g0265 a0002c0002t0002g0261 a0001c0001t0024g0265 a0002c0002t0002g0261	2	320	0.0063	-32	c.892 others(49): Show c.892+4011_892+4042delGTGTGTGTATATATATATATATATATAT ATAT	NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
NPRL3_chr16_80386_143673	138290	GGGCGGAG others(25): Show GGGCGGAGGGGGCCAGAGGAGGACGGAGCCGGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03654.hp2 NA19240.hp1 others(1): Show HG03540.hp1 HG03654.hp2 NA19240.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0022 a0002c0003t0009 a0002c0003t0022	a0002c0003t0009g0344 a0002c0003t0009g0345 a0002c0003t0009g0346 others(1): Show a0002c0003t0009g0344 a0002c0003t0009g0345 a0002c0003t0009g0346 a0002c0003t0022g0347	4	350	0.0114	-32	c.-55 others(39): Show c.-55_-24delTCCGGCTCCGTCCTCCTCTGGCCCCCTCCGCC	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	2/14	24		chr16	TogoVar
NPRL3_chr16_80386_143673	138304	AGAGGAGG others(25): Show AGAGGAGGACGGAGCCGGAGGCGGAGGGGGCCT	A A	splice_acceptor_variant others(2): Show splice_acceptor_variant 5_prime_UTR_variant intron_variant	HIGH	HG00323.hp1 HG00423.hp2 HG00597.hp2 others(132): Show HG00323.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0001c0011 others(3): Show a0001c0001 a0001c0005 a0001c0011 a0001c0014 a0002c0003 a0008c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0011t0005 a0001c0014t0021 a0002c0003t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0001t0005g0004 a0001c0001t0005g0023 a0001c0001t0005g0038 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0074 a0001c0001t0005g0077 a0001c0001t0011g0009 a0001c0001t0011g0034 a0001c0001t0012g0316 a0001c0001t0012g0317 a0001c0001t0013g0349 a0001c0001t0013g0350 a0001c0001t0018g0275 a0001c0001t0019g0015 a0001c0001t0020g0105 a0001c0001t0023g0348 a0001c0005t0001g0050 a0001c0005t0001g0063 a0001c0005t0001g0094 a0001c0011t0005g0083 a0001c0014t0021g0277 a0002c0003t0001g0098 a0008c0010t0001g0088	135	350	0.3857	-32	c.-67 others(41): Show c.-67-2_-38delAGGCCCCCTCCGCCTCCGGCTCCGTCCTCCTC	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	2/14	38		chr16	TogoVar
NPRL3_chr16_80386_143673	138499	GAGGGCAG others(25): Show GAGGGCAGGGGTGGAGGCGGAGGGGGCCTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01069.hp1 others(31): Show HG00140.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG02055.hp1 HG02145.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp1 HG02738.hp1 HG02970.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp2 NA18973.hp1 NA18980.hp2 NA18998.hp1 NA19010.hp1 NA19056.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0020	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(31): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0289 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0013g0349 a0001c0001t0013g0350 a0001c0001t0020g0105	34	350	0.0971	-32	c.-68 others(47): Show c.-68+111_-68+142delACTCAGGCCCCCTCCGCCTCCACCCCTGCC CT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	1/13			chr16	TogoVar
NPY4R_chr10_46456099_46470958	46466254	TCTTTCTT others(25): Show TCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG00741.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	2	290	0.0069	-32	c.-82 others(41): Show c.-824_-793delGAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAG	NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding		297		chr10	TogoVar
NR0B1_chrX_30299206_30314390	30301308	GAGGGAGG others(25): Show GAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00733.hp1 others(18): Show HG00099.hp1 HG00621.hp1 HG00733.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01361.hp2 HG01496.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02257.hp2 HG02976.hp1 HG03017.hp1 HG03490.hp1 NA18906.hp2 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0012 a0001c0002 a0003c0012	a0001c0002t0001 a0001c0002t0002 a0003c0012t0001 a0001c0002t0001 a0001c0002t0002 a0003c0012t0001	a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0019 others(5): Show a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0019 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0002g0014 a0001c0002t0002g0057 a0003c0012t0001g0050	21	322	0.0652	-32	c.32 others(43): Show c.3239_*3270delTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2897		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30310807	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00642.hp1 others(23): Show HG00323.hp2 HG00558.hp1 HG00642.hp1 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01891.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02165.hp2 HG02723.hp1 HG02809.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG04228.hp1 NA18960.hp1 NA18974.hp1 NA18979.hp1 NA18990.hp1 NA19075.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0015 a0001c0002t0001g0001 a0001c0002t0001g0007 others(7): Show a0001c0001t0001g0015 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0002g0014 a0001c0003t0001g0009	26	322	0.0808	-32	c.-14 others(43): Show c.-1476_-1445delGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		1418		chrX	TogoVar
NR1H4_chr12_100468866_100569414	100513801	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	308	0.0033	-32	c.445 others(49): Show c.445+2697_445+2728delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	NR1H4	ENSG00000012504.15	transcript	ENST00000392986.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NR3C2_chr4_148073764_148447414	148186986	GTGTATGT others(25): Show GTGTATGTATGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18998.hp1 HG03139.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0111 a0001c0001t0011g0124 a0001c0001t0003g0111 a0001c0001t0011g0124	2	170	0.0118	-32	c.201 others(51): Show c.2014+7728_2014+7759delTATATATATATATATATATATACATA CATACA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	4/8			chr4	TogoVar
NRBP1_chr2_27423631_27447259	27427285	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	276	0.0036	-32	c.-14 others(43): Show c.-1466_-1435delTATATATATATATATATATATATATATTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1345		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427287	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	276	0.0036	-32	c.-14 others(43): Show c.-1464_-1433delTATATATATATATATATATATATATTTTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1343		chr2	TogoVar
NRCAM_chr7_108142649_108461436	108163778	GCGGTAAT others(25): Show GCGGTAATGAGAGGTCATACCGGGTGGGGTGGC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0013 a0002c0008t0013	a0002c0008t0013g0172 a0002c0008t0013g0172	1	208	0.0048	-32	c.346 others(51): Show c.3466+3111_3466+3142delGCCACCCCACCCGGTATGACCTCTCA TTACCG	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRDC_chr1_51784210_51883727	51844817	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG01891.hp1 others(12): Show HG01167.hp1 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03486.hp2 HG03516.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0008 a0001c0002 a0001c0003 a0001c0008	a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(12): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0003t0001g0006 a0001c0003t0001g0056 a0001c0008t0001g0055	15	244	0.0615	-32	c.342 others(49): Show c.342-4335_342-4304delCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRG1_chr8_32543311_32779046	32772036	AATATGTA others(25): Show AATATGTATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00621.hp2 others(36): Show HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp1 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03942.hp2 NA18954.hp1 NA18954.hp2 NA18993.hp1 NA19030.hp2 NA19062.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0002c0002 a0009c0009 others(1): Show a0001c0001 a0002c0002 a0009c0009 a0010c0013	a0001c0001t0002 a0001c0001t0024 a0001c0001t0032 others(30): Show a0001c0001t0002 a0001c0001t0024 a0001c0001t0032 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0060 a0001c0001t0065 a0001c0001t0095 a0001c0001t0096 a0001c0001t0103 a0001c0001t0119 a0001c0001t0157 a0001c0001t0158 a0002c0002t0002 a0002c0002t0008 a0002c0002t0023 a0002c0002t0032 a0002c0002t0033 a0002c0002t0037 a0002c0002t0066 a0002c0002t0100 a0002c0002t0151 a0002c0002t0153 a0002c0002t0156 a0002c0002t0159 a0009c0009t0002 a0009c0009t0008 a0009c0009t0023 a0009c0009t0038 a0010c0013t0098	a0001c0001t0002g0107 a0001c0001t0002g0179 a0001c0001t0002g0243 others(36): Show a0001c0001t0002g0107 a0001c0001t0002g0179 a0001c0001t0002g0243 a0001c0001t0024g0184 a0001c0001t0024g0234 a0001c0001t0032g0150 a0001c0001t0039g0060 a0001c0001t0041g0082 a0001c0001t0042g0052 a0001c0001t0043g0058 a0001c0001t0044g0005 a0001c0001t0060g0057 a0001c0001t0065g0055 a0001c0001t0095g0105 a0001c0001t0096g0187 a0001c0001t0103g0109 a0001c0001t0119g0115 a0001c0001t0157g0153 a0001c0001t0158g0222 a0002c0002t0002g0190 a0002c0002t0002g0203 a0002c0002t0008g0031 a0002c0002t0008g0077 a0002c0002t0023g0178 a0002c0002t0032g0169 a0002c0002t0033g0164 a0002c0002t0033g0170 a0002c0002t0037g0009 a0002c0002t0066g0070 a0002c0002t0100g0092 a0002c0002t0151g0149 a0002c0002t0153g0144 a0002c0002t0156g0158 a0002c0002t0159g0147 a0009c0009t0002g0093 a0009c0009t0008g0046 a0009c0009t0023g0091 a0009c0009t0038g0039 a0010c0013t0098g0237	39	244	0.1598	-32	c.76 others(43): Show c.7639_*7670delGTATATATATATATATATATATATATATATAT	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	12/12	7639	INFO_REALIGN_3_PRIME	chr8	TogoVar

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