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
NPR1_chr1_153673688_153698992	153690086	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp2 HG02145.hp1 others(13): Show HG01167.hp1 HG01192.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02965.hp2 HG03486.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp2 NA19043.hp2 NA20129.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0014 a0002c0002t0003g0189 others(4): Show a0002c0002t0003g0005 a0002c0002t0003g0014 a0002c0002t0003g0189 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0196 a0002c0002t0003g0210	16	346	0.0462	-22	c.293 others(39): Show c.2932+128_2932+149delGTCTCTCTCTCTCTCTCTCTCT	NPR1	ENSG00000169418.10	transcript	ENST00000368680.4	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
NPR3_chr5_32706321_32796720	32728831	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0199 a0001c0001t0007g0199	1	320	0.0031	-22	c.892 others(39): Show c.892+4013_892+4034delGTGTGTATATATATATATATAT	NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
NPR3_chr5_32706321_32796720	32728835	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02486.hp1 others(6): Show HG02055.hp1 HG02257.hp1 HG02486.hp1 HG02622.hp1 HG02896.hp1 HG02976.hp1 HG03139.hp1 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0059 a0001c0003t0023 a0002c0002t0027	a0001c0001t0004g0139 a0001c0001t0007g0151 a0001c0001t0008g0046 others(6): Show a0001c0001t0004g0139 a0001c0001t0007g0151 a0001c0001t0008g0046 a0001c0001t0008g0127 a0001c0001t0008g0305 a0001c0001t0059g0155 a0001c0003t0023g0038 a0001c0003t0023g0039 a0002c0002t0027g0128	9	320	0.0281	-22	c.892 others(39): Show c.892+4017_892+4038delGTATATATATATATATATATAT	NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
NPSR1_chr7_34653218_34854978	34792643	ATATATAT others(15): Show ATATATATATGTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0201 a0005c0004t0001g0201	1	260	0.0039	-22	c.384 others(41): Show c.384+14100_384+14121delTTATATATATGTATATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTN_chr15_73555014_73638389	73580400	TTATATAT others(15): Show TTATATATATAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp2 HG02970.hp1 others(6): Show HG00438.hp1 HG02155.hp2 HG02970.hp1 HG04184.hp2 NA18981.hp1 NA18991.hp1 NA19007.hp1 NA19030.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(6): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280	9	342	0.0263	-22	c.707 others(39): Show c.707-6627_707-6606delTTATATATATATTATATATATA	NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding	4/8			chr15	TogoVar
NPY4R2_chr10_47913662_47928524	47918365	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01106.hp1 HG01943.hp1 others(8): Show HG00408.hp1 HG01106.hp1 HG01943.hp1 HG01952.hp2 HG02155.hp1 HG03209.hp1 HG03471.hp2 NA18972.hp2 NA19058.hp1 NA19060.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0001c0003t0001 a0002c0001t0001	a0001c0003t0001g0001 a0002c0001t0001g0001 a0001c0003t0001g0001 a0002c0001t0001g0001	11	276	0.0399	-22	c.-79 others(31): Show c.-792_-771delAGAGAGAGAGAGAGAGAGAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		296		chr10	TogoVar
NPY4R_chr10_46456099_46470958	46466183	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA18949.hp1 NA19072.hp2 others(1): Show HG03098.hp1 NA18949.hp1 NA19072.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0004 a0001c0001t0001 a0002c0004t0004	a0001c0001t0001g0001 a0002c0004t0004g0005 a0001c0001t0001g0001 a0002c0004t0004g0005	4	290	0.0138	-22	c.-74 others(31): Show c.-743_-722delAAGAAAGAAAGAAAGAAAGAAA	NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding		226		chr10	TogoVar
NPY_chr7_24279190_24296862	24290405	TAAACCAA others(15): Show TAAACCAAGTTCTACAATGTCAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	476	0.0021	-22	c.269 others(37): Show c.269+827_269+848delAAACCAAGTTCTACAATGTCAA	NPY	ENSG00000122585.8	transcript	ENST00000242152.7	protein_coding	3/3			chr7	TogoVar
NR2E1_chr6_108161022_108193805	108185387	CACACACA others(15): Show CACACACACACGCACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0119 a0001c0001t0017g0119	1	392	0.0026	-22	c.996 others(39): Show c.996-1903_996-1882delGCACACACACATACACACACAC	NR2E1	ENSG00000112333.12	transcript	ENST00000368986.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
NR2F1_chr5_93578222_93599611	93581715	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG06807.hp1 HG02622.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	294	0.0068	-22	c.-33 others(33): Show c.-3308_-3287delCTCTCTCTCTCTCTCTCTCCCC	NR2F1	ENSG00000175745.15	transcript	ENST00000327111.8	protein_coding		1506		chr5	TogoVar
NR2F1_chr5_93578222_93599611	93581721	TCTCTCTC others(15): Show TCTCTCTCTCTCTCCCCCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG03516.hp1 NA19240.hp1 HG02897.hp2 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017	3	294	0.0102	-22	c.-33 others(33): Show c.-3302_-3281delCTCTCTCTCTCTCCCCCTCTCC	NR2F1	ENSG00000175745.15	transcript	ENST00000327111.8	protein_coding		1500		chr5	TogoVar
NR2F1_chr5_93578222_93599611	93581846	TCTCTCTC others(15): Show TCTCTCTCCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG06807.hp2 HG00323.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	294	0.0068	-22	c.-31 others(33): Show c.-3177_-3156delCTCTCTCCTCTCTCTCTCTCTC	NR2F1	ENSG00000175745.15	transcript	ENST00000327111.8	protein_coding		1375		chr5	TogoVar
NR3C2_chr4_148073764_148447414	148186986	GTGTATGT others(15): Show GTGTATGTATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02109.hp2 HG02735.hp2 others(4): Show HG02015.hp1 HG02109.hp2 HG02735.hp2 HG03139.hp1 HG03831.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0003t0015 a0002c0002t0001	a0001c0001t0002g0051 a0001c0001t0003g0164 a0001c0001t0010g0023 others(4): Show a0001c0001t0002g0051 a0001c0001t0003g0164 a0001c0001t0010g0023 a0001c0001t0011g0161 a0001c0003t0015g0006 a0002c0002t0001g0027 a0002c0002t0001g0064	7	170	0.0412	-22	c.201 others(41): Show c.2014+7738_2014+7759delTATATATATATACATACATACA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	4/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148186988	GTATGTAT others(15): Show GTATGTATGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	170	0.0059	-22	c.201 others(41): Show c.2014+7736_2014+7757delTATATATATATATACATACATA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	4/8			chr4	TogoVar
NR5A1_chr9_124476236_124512399	124510446	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02922.hp1 HG03041.hp1 others(1): Show HG01884.hp1 HG02922.hp1 HG03041.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0007 a0002c0003t0001 a0002c0003t0004 a0002c0002t0007 a0002c0003t0001 a0002c0003t0004	a0002c0002t0007g0222 a0002c0003t0001g0021 a0002c0003t0004g0044 a0002c0002t0007g0222 a0002c0003t0001g0021 a0002c0003t0004g0044	4	356	0.0112	-22	c.-32 others(33): Show c.-3235_-3214delATATATATATATATTTTTTTTT	NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding		3048		chr9	TogoVar
NR5A1_chr9_124476236_124512399	124510454	AATATATA others(15): Show AATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp2 NA19087.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0011 a0002c0002t0001g0063 a0001c0001t0001g0011 a0002c0002t0001g0063	2	356	0.0056	-22	c.-32 others(33): Show c.-3243_-3222delATATATATATATATATATATAT	NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding		3056		chr9	TogoVar
NR5A2_chr1_200022710_200182415	200073276	ATATATAT others(15): Show ATATATATATATATATTCCCCTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0063 a0001c0004t0020g0063	1	286	0.0035	-22	c.111 others(43): Show c.1110+24474_1110+24495delTCCCCTTTATATATATATATAT	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NR5A2_chr1_200022710_200182415	200144221	TCTCTCTC others(15): Show TCTCTCTCTCTCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp2 HG02896.hp2 others(8): Show HG02723.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 NA19001.hp2 NA19065.hp1 NA19066.hp1 NA19075.hp1 NA19083.hp2 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0005c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004 a0001c0002t0029 a0001c0004t0004 a0005c0012t0001	a0001c0001t0002g0204 a0001c0001t0002g0227 a0001c0001t0003g0238 others(8): Show a0001c0001t0002g0204 a0001c0001t0002g0227 a0001c0001t0003g0238 a0001c0001t0008g0166 a0001c0002t0001g0222 a0001c0002t0001g0230 a0001c0002t0004g0091 a0001c0002t0029g0142 a0001c0004t0004g0066 a0001c0004t0004g0067 a0005c0012t0001g0194	11	286	0.0385	-22	c.137 others(43): Show c.1378+23268_1378+23289delTCTCTCTCTCTCACACACACAC	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NRBP1_chr2_27423631_27447259	27427268	CATATATA others(15): Show CATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	276	0.0036	-22	c.-14 others(33): Show c.-1483_-1462delATATATATATATATATATATAT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1362		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427295	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02071.hp1 NA18747.hp2 others(1): Show HG01928.hp2 HG02071.hp1 NA18747.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0003t0001g0001	4	276	0.0145	-22	c.-14 others(33): Show c.-1456_-1435delTATATATATATATATATTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1335		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427297	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG03490.hp1 HG03492.hp2 HG01346.hp1 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0001 a0001c0001t0001g0014	3	276	0.0109	-22	c.-14 others(33): Show c.-1454_-1433delTATATATATATATATTTTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1333		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427299	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG01081.hp2 others(5): Show HG00280.hp2 HG00597.hp1 HG01081.hp2 HG01192.hp2 HG01981.hp2 HG02132.hp2 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0037	8	276	0.0290	-22	c.-14 others(33): Show c.-1452_-1431delTATATATATATATTTTTTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1331		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427301	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG01192.hp1 others(5): Show HG00323.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp2 HG01358.hp1 HG01934.hp1 HG01952.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0047	8	276	0.0290	-22	c.-14 others(33): Show c.-1450_-1429delTATATATATATTTTTTTTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1329		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27439995	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	276	0.0036	-22	c.103 others(39): Show c.1036+112_1036+133delTTTTTTTTTTTTTTTTTTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRCAM_chr7_108142649_108461436	108155093	TATATATA others(15): Show TATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp2 HG02965.hp1 NA19030.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0006 a0003c0011t0006	a0003c0011t0006g0020 a0003c0011t0006g0026 a0003c0011t0006g0020 a0003c0011t0006g0026	2	208	0.0096	-22	c.367 others(41): Show c.3677+4348_3677+4369delGTGTGTGTGTGTGTATATATAT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	32/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108155099	TATACACA others(15): Show TATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0016 a0002c0008t0016	a0002c0008t0016g0045 a0002c0008t0016g0045	1	208	0.0048	-22	c.367 others(41): Show c.3677+4342_3677+4363delGTGTGTGTGTGTGTGTGTGTAT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	32/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108378632	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03225.hp2 HG02559.hp1 HG03225.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0018 a0002c0007t0008 a0002c0007t0018	a0002c0007t0008g0036 a0002c0007t0018g0033 a0002c0007t0008g0036 a0002c0007t0018g0033	2	208	0.0096	-22	c.-17 others(43): Show c.-174+20782_-174+20803delGTGTGTGTGTGTGTGTGTGTGT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	2/32			chr7	TogoVar
NRDE2_chr14_90262860_90336941	90274787	TACACACA others(15): Show TACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG03017.hp1 HG02145.hp2 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0063 a0001c0020t0070 a0001c0003t0063 a0001c0020t0070	a0001c0003t0063g0224 a0001c0020t0070g0194 a0001c0003t0063g0224 a0001c0020t0070g0194	2	344	0.0058	-22	c.35 others(33): Show c.3527_*3548delGTGTGTGTGTGTGTGTGTGTGT	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	14/14	3527		chr14	TogoVar
NRF1_chr7_129606720_129762076	129685556	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0295 a0001c0002t0003g0295	1	384	0.0026	-22	c.466 others(39): Show c.466-4823_466-4802delGTGTGTGTGTGTGTGTGTGTGT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
NRG3_chr10_81870194_82992178	82021786	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02280.hp2 HG02572.hp1 others(1): Show HG01081.hp1 HG02280.hp2 HG02572.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0051 a0001c0001t0003g0006 a0001c0001t0003g0036 others(1): Show a0001c0001t0001g0051 a0001c0001t0003g0006 a0001c0001t0003g0036 a0001c0002t0002g0041	4	66	0.0606	-22	c.823 others(43): Show c.823+145651_823+145672delGTGTGTGTGTGTGTGTGTGTGT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82102093	CATATATA others(15): Show CATATATATATATGTGTATTCAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18942.hp1 HG02622.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0024 a0001c0002t0002g0045 a0001c0001t0001g0024 a0001c0002t0002g0045	2	66	0.0303	-22	c.823 others(43): Show c.823+225941_823+225962delATGTGTATTCATATATATATAT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82170654	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp2 NA18942.hp1 HG00639.hp1 HG02896.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0011 a0001c0002t0002g0038 a0001c0002t0002g0045 a0001c0001t0001g0011 a0001c0002t0002g0038 a0001c0002t0002g0045	3	66	0.0455	-22	c.824 others(43): Show c.824-188063_824-188042delATATATATATATATATATATAT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82920174	TAAGTACT others(15): Show TAAGTACTGTACTCTAGTTGATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0066 a0001c0002t0007g0066	1	66	0.0152	-22	c.105 others(43): Show c.1055-31265_1055-31244delGTACTCTAGTTGATAAAGTACT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRP1_chr10_33172493_33339667	33230595	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG03041.hp2 others(4): Show HG00735.hp2 HG01891.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0006 a0001c0007t0006 a0001c0002t0006 a0001c0007t0006	a0001c0002t0006g0015 a0001c0002t0006g0073 a0001c0002t0006g0209 others(4): Show a0001c0002t0006g0015 a0001c0002t0006g0073 a0001c0002t0006g0209 a0001c0002t0006g0219 a0001c0002t0006g0220 a0001c0002t0006g0221 a0001c0007t0006g0197	7	262	0.0267	-22	c.982 others(39): Show c.982-4328_982-4307delCACACACACACACACACACATA	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	6/16			chr10	TogoVar
NRP2_chr2_205677501_205803131	205690579	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02622.hp2 others(13): Show HG01243.hp1 HG02109.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0012	a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 others(12): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0022 a0001c0002t0048 a0001c0002t0049 a0001c0002t0051 a0001c0002t0054 a0001c0003t0008 a0001c0003t0012 a0001c0003t0022 a0001c0004t0022 a0001c0005t0013 a0001c0011t0004 a0001c0012t0017	a0001c0002t0004g0182 a0001c0002t0007g0284 a0001c0002t0007g0285 others(13): Show a0001c0002t0004g0182 a0001c0002t0007g0284 a0001c0002t0007g0285 a0001c0002t0008g0181 a0001c0002t0022g0185 a0001c0002t0048g0125 a0001c0002t0049g0173 a0001c0002t0051g0183 a0001c0002t0054g0215 a0001c0003t0008g0172 a0001c0003t0012g0175 a0001c0003t0022g0174 a0001c0004t0022g0184 a0001c0005t0013g0176 a0001c0011t0004g0171 a0001c0012t0017g0273	16	352	0.0455	-22	c.74- others(37): Show c.74-6935_74-6914delCACACACACACACACACACACA	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRXN1_chr2_49913503_51037132	50098830	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0065 a0001c0001t0017g0065	1	116	0.0086	-22	c.354 others(41): Show c.3547-7358_3547-7337delAAAAAAAAAAAAAAAAAAAAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	18/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50166303	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp1 HG02559.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0077 a0001c0002t0005g0083 a0001c0002t0005g0077 a0001c0002t0005g0083	2	116	0.0172	-22	c.354 others(43): Show c.3546+70464_3546+70485delAACACACACACACACACACACA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	18/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50239662	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02074.hp2 NA19030.hp2 others(2): Show HG01346.hp2 HG02074.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 others(2): Show a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 a0001c0002t0002 a0001c0005t0012	a0001c0001t0015g0037 a0001c0001t0018g0114 a0001c0001t0035g0061 others(2): Show a0001c0001t0015g0037 a0001c0001t0018g0114 a0001c0001t0035g0061 a0001c0002t0002g0076 a0001c0005t0012g0002	5	116	0.0431	-22	c.336 others(41): Show c.3365-2714_3365-2693delTATATATATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50329607	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp1 HG02559.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0077 a0001c0002t0005g0083 a0001c0002t0005g0077 a0001c0002t0005g0083	2	116	0.0172	-22	c.336 others(43): Show c.3365-92659_3365-92638delTATATATATATACACACACACA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50399789	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02258.hp2 others(6): Show HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02970.hp2 HG03471.hp1 NA18975.hp1 NA18975.hp2 NA19012.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0002t0013 a0001c0002t0048 a0001c0003t0026 a0001c0004t0007 a0001c0004t0038	a0001c0001t0002g0033 a0001c0001t0005g0046 a0001c0001t0018g0068 others(6): Show a0001c0001t0002g0033 a0001c0001t0005g0046 a0001c0001t0018g0068 a0001c0002t0013g0110 a0001c0002t0048g0109 a0001c0003t0026g0006 a0001c0004t0007g0090 a0001c0004t0007g0093 a0001c0004t0038g0085	9	116	0.0776	-22	c.336 others(43): Show c.3364+65631_3364+65652delTTTTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN2_chr11_64601174_64728197	64719907	AATAGCTA others(15): Show AATAGCTACCATTTACGGGGACC	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	308	0.0033	-22	c.-24 others(41): Show c.-245+3042_-245+3063delGGTCCCCGTAAATGGTAGCTAT	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	1/22			chr11	TogoVar
NRXN3_chr14_78165373_79873291	78993834	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG01243.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0004 a0001c0008t0004 a0001c0003t0004 a0001c0008t0004	a0001c0003t0004g0015 a0001c0008t0004g0014 a0001c0003t0004g0015 a0001c0008t0004g0014	2	24	0.0833	-22	c.326 others(41): Show c.3262+5705_3262+5726delTTTTTTTTTTTTTTTTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79026950	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0007 a0001c0001t0013g0007	1	24	0.0417	-22	c.326 others(43): Show c.3262+38843_3262+38864delATATATATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79049053	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0019 a0001c0003t0012g0019	1	24	0.0417	-22	c.326 others(43): Show c.3262+60915_3262+60936delAAAAAAAAAAAAAAAAAAATAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79234293	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0023 a0001c0006t0001g0023	1	24	0.0417	-22	c.326 others(45): Show c.3263-232902_3263-232881delTATATATATATATATATATATA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79376245	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03486.hp1 HG02922.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0012 a0001c0004t0006 a0001c0003t0012 a0001c0004t0006	a0001c0003t0012g0019 a0001c0004t0006g0021 a0001c0003t0012g0019 a0001c0004t0006g0021	2	24	0.0833	-22	c.326 others(43): Show c.3263-90974_3263-90953delTATATATATATATATATATACA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79754503	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0012 a0001c0010t0001g0012	1	24	0.0417	-22	c.401 others(43): Show c.4015-50570_4015-50549delATATATATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD2_chr4_1866393_1987192	1878239	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0035 a0001c0002t0021g0035	1	130	0.0077	-22	c.-30 others(39): Show c.-30+6699_-30+6720delATATATATATATTTTTTTTTTT	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1951443	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02300.hp1 HG03225.hp2 HG01517.hp1 HG02300.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0062 a0001c0001t0001g0112 a0001c0005t0001g0072 a0001c0001t0001g0062 a0001c0001t0001g0112 a0001c0005t0001g0072	3	130	0.0231	-22	c.201 others(39): Show c.2013+300_2013+321delCACACACACACACACACACACA	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSL1_chr1_212721153_212796777	212745160	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18986.hp1 HG02109.hp1 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0095 a0001c0001t0001 a0002c0004t0095	a0001c0001t0001g0245 a0002c0004t0095g0014 a0001c0001t0001g0245 a0002c0004t0095g0014	2	364	0.0055	-22	c.500 others(39): Show c.500-5581_500-5560delTATATATATATATATATATATA	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar

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