Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NOP53_chr19_47740546_47762058	47761957	G G	GGAGGCTG others(33): Show GGAGGCTGAGGTGGGTGGCTCACCTGAGGTCAGGAATTCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	40	c.49 others(51): Show c.4952_*4953insGAGGCTGAGGTGGGTGGCTCACCTGAGGTCAGGA ATTCGA	NOP53	ENSG00000105373.19	transcript	ENST00000246802.10	protein_coding		4900		chr19	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02683.hp1 HG02055.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0011g0003 a0001c0002t0001g0026 a0001c0001t0011g0003 a0001c0002t0001g0026	2	26	0.0769	40	c.177 others(59): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264463	C C	CTCTTCTC others(33): Show CTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02451.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0003 a0001c0001t0002 a0001c0004t0003	a0001c0001t0002g0087 a0001c0004t0003g0159 a0001c0001t0002g0087 a0001c0004t0003g0159	2	172	0.0116	40	c.178 others(59): Show c.178-22879_178-22878insTTCTCTTCTCCTCTCCTCTCCTCTCC TCCCCTCCCCTGTC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(33): Show CTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03540.hp2 HG03579.hp2 others(1): Show HG03139.hp2 HG03540.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0002 a0001c0002t0009	a0001c0001t0002g0064 a0001c0001t0002g0100 a0001c0002t0002g0105 others(1): Show a0001c0001t0002g0064 a0001c0001t0002g0100 a0001c0002t0002g0105 a0001c0002t0009g0074	4	52	0.0769	40	c.178 others(59): Show c.178-22876_178-22875insTCCTCTCCTCTCCTCTCCTCTCCTCC CCTCCCCTCCCCTG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(33): Show CTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG01891.hp1 others(15): Show HG01106.hp1 HG01261.hp1 HG01891.hp1 HG02135.hp2 HG02572.hp1 HG02723.hp2 HG03041.hp2 HG03195.hp2 NA18945.hp1 NA18960.hp2 NA18979.hp2 NA18994.hp1 NA18994.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0006 a0001c0003t0013 a0001c0005t0007	a0001c0001t0001g0055 a0001c0001t0001g0144 a0001c0001t0002g0049 others(15): Show a0001c0001t0001g0055 a0001c0001t0001g0144 a0001c0001t0002g0049 a0001c0001t0002g0077 a0001c0001t0002g0093 a0001c0001t0002g0137 a0001c0001t0002g0161 a0001c0001t0030g0034 a0001c0002t0001g0043 a0001c0002t0001g0052 a0001c0002t0001g0085 a0001c0002t0001g0135 a0001c0002t0001g0162 a0001c0002t0002g0039 a0001c0002t0004g0108 a0001c0003t0006g0088 a0001c0003t0013g0181 a0001c0005t0007g0010	18	66	0.2727	40	c.178 others(59): Show c.178-22876_178-22875insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCCCCTCCCCTG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTTTTTT others(33): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0194 a0001c0001t0034g0194	1	86	0.0116	40	c.253 others(59): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG06807.hp1 HG01106.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0076 a0001c0001t0002 a0001c0001t0076	a0001c0001t0002g0073 a0001c0001t0076g0158 a0001c0001t0002g0073 a0001c0001t0076g0158	2	17	0.1176	40	c.-42 others(59): Show c.-420-4280_-420-4241dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149391098	G G	GCCCCGCC others(33): Show GCCCCGCCAACCGCCGGGGTTCCCCGCCAACCGCCGGGGTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01255.hp1 others(3): Show HG00323.hp2 HG01081.hp1 HG01255.hp1 HG01358.hp2 NA20129.hp1 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0001c0001t0021 a0006c0006t0007 a0001c0001t0002 a0001c0001t0021 a0006c0006t0007	a0001c0001t0002g0007 a0001c0001t0021g0008 a0001c0001t0021g0009 others(3): Show a0001c0001t0002g0007 a0001c0001t0021g0008 a0001c0001t0021g0009 a0006c0006t0007g0010 a0006c0006t0007g0011 a0006c0006t0007g0012	6	196	0.0306	40	c.135 others(55): Show c.135+184_135+223dupAACCGCCGGGGTTCCCCGCCAACCGCCGGG GTTCCCCGCC	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149466275	T T	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0029 a0003c0029t0029	a0003c0029t0029g0084 a0003c0029t0029g0084	1	253	0.0040	40	c.21 others(51): Show c.2122_*2123insTTTATATATATATATATATATATATATATATATA TATATA	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	5/5	2123		chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041055	A A	AATATATA others(33): Show AATATATATATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0151 a0001c0003t0003g0151	1	156	0.0064	40	c.74- others(57): Show c.74-11069_74-11068insATATATATATATATATATATATATGTAT ATATATATATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041082	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0148 a0001c0003t0003g0148	1	165	0.0061	40	c.74- others(57): Show c.74-11096_74-11095insCATATATATATATATATATATATATATA TATATATATATA	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOX1_chrX_100838324_100879359	100853250	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	299	0.0033	40	c.805 others(57): Show c.805-1926_805-1925insAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAGAAAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853332	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	106	0.0094	40	c.805 others(57): Show c.805-2008_805-2007insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX5_chr15_69009695_69067762	69045536	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01978.hp1 HG02148.hp2 others(14): Show HG01167.hp1 HG01978.hp1 HG02148.hp2 HG02523.hp1 HG02683.hp1 HG03831.hp1 NA18957.hp2 NA18970.hp2 NA18971.hp2 NA18988.hp1 NA19003.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19074.hp2 NA19079.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0016 a0002c0002 others(1): Show a0001c0001 a0001c0016 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 a0002c0002t0001 a0003c0004t0003 a0003c0004t0004	a0001c0001t0001g0265 a0001c0001t0002g0187 a0001c0001t0002g0254 others(9): Show a0001c0001t0001g0265 a0001c0001t0002g0187 a0001c0001t0002g0254 a0001c0016t0001g0259 a0002c0002t0001g0103 a0003c0004t0003g0005 a0003c0004t0003g0077 a0003c0004t0003g0122 a0003c0004t0003g0135 a0003c0004t0004g0023 a0003c0004t0004g0092 a0003c0004t0004g0131	17	100	0.1700	40	c.164 others(59): Show c.1648-1252_1648-1251insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAS2_chr2_100815139_101001829	100938569	C C	CCCCCCTT others(33): Show CCCCCCTTTCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0269 a0001c0001t0003g0238 a0001c0001t0003g0269	2	88	0.0227	40	c.363 others(55): Show c.363+757_363+758insTCCCTCCCTTCCCCCTTTCCTCCCTCCCTC CCTCCCTCCT	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	33301306	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG03239.hp1 HG02647.hp2 HG02717.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017	a0001c0001t0005g0032 a0001c0001t0006g0041 a0001c0001t0017g0064 a0001c0001t0005g0032 a0001c0001t0006g0041 a0001c0001t0017g0064	3	48	0.0625	40	c.386 others(59): Show c.386-65863_386-65862insATATATATATATATATATATATATAT ATATATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(33): Show TATATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0018 a0001c0001t0013g0018	1	21	0.0476	40	c.386 others(59): Show c.386-58658_386-58657insTATATATATATATATATATATATATA CACACACACACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105657	G G	GTGGGCAT others(33): Show GTGGGCATGATGATGGGCGTGATGATGATGGGGGGTGATGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0063 a0001c0002t0062g0063	1	353	0.0028	40	c.17 others(49): Show c.172_*173insTCATCACCCCCCATCATCATCACGCCCATCATCATG CCCA	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	172		chr20	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	116	0.0086	40	c.255 others(57): Show c.255+6670_255+6671insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPHS1_chr19_35820372_35857504	35825125	G G	GAGGGGAG others(33): Show GAGGGGAGGGGAGGTAAGGGGAGGGGAGGGGAGGGGAGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0025 a0025	a0025c0034 a0025c0034	a0025c0034t0014 a0025c0034t0014	a0025c0034t0014g0199 a0025c0034t0014g0199	1	381	0.0026	40	c.13 others(51): Show c.1388_*1389insTACCTCCCCTCCCCTCCCCTCCCCTTACCTCCCC TCCCCT	NPHS1	ENSG00000161270.20	transcript	ENST00000378910.10	protein_coding		246		chr19	TogoVar
NPIPB15_chr16_74371306_74397115	74377848	C C	CCTCCCCT others(33): Show CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	241	0.0041	40	c.-22 others(55): Show c.-22-104_-22-103insCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCG	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7			chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28339066	C C	CGAGACTC others(33): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG02622.hp2 HG03098.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0213 a0005c0005t0002g0217 a0005c0005t0002g0213 a0005c0005t0002g0217	2	334	0.0060	40	c.35 others(51): Show c.3540_*3541insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTC	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding		3450		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28639444	C C	CACACACA others(33): Show CACACACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0331 a0008c0009t0003g0331	1	251	0.0040	40	c.120 others(55): Show c.120+965_120+966insCACACATATATATATATATATATATATATA TATATATATA	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28639444	C C	CACACATA others(33): Show CACACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0333 a0008c0009t0003g0333	1	251	0.0040	40	c.120 others(55): Show c.120+965_120+966insCACATATATATATATATATATATATATATA TATATATATA	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPSR1_chr7_34653218_34854978	34663067	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0126 a0003c0005t0002g0126	1	166	0.0060	40	c.147 others(57): Show c.147+4509_147+4510insCTCTCTCTCTCTCTCTGTGTGTGTGTGT GTGTGTGTGTGT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPS_chr10_127544309_127558540	127555058	C C	CTCCTGCT others(33): Show CTCCTGCTTGTGGCCACACAAGGGCTGAATCATTGATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	462	0.0022	40	c.24 others(51): Show c.2419_*2420insTCCTGCTTGTGGCCACACAAGGGCTGAATCATTG ATTAAA	NPS	ENSG00000214285.3	transcript	ENST00000398023.3	protein_coding		1519		chr10	TogoVar
NPS_chr10_127544309_127558540	127557698	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0018 a0001c0001t0015g0018	1	332	0.0030	40	c.50 others(51): Show c.5059_*5060insTATATATATATATATATATATATATATATATATA TATATA	NPS	ENSG00000214285.3	transcript	ENST00000398023.3	protein_coding		4159		chr10	TogoVar
NPTXR_chr22_38813452_38849028	38837845	T T	TTTTTATT others(33): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01081.hp2 others(9): Show HG00280.hp1 HG00642.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01361.hp1 HG02080.hp2 HG02486.hp2 HG03834.hp1 NA18997.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0124 a0001c0001t0001g0125 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0004t0001g0128 a0001c0004t0001g0131	12	184	0.0652	40	c.624 others(57): Show c.624+5389_624+5390insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAA	NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding	1/4			chr22	TogoVar
NR3C2_chr4_148073764_148447414	148363504	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02886.hp2 HG02071.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0002 a0001c0001t0012 a0001c0003t0002	a0001c0001t0012g0169 a0001c0003t0002g0003 a0001c0001t0012g0169 a0001c0003t0002g0003	2	107	0.0187	40	c.175 others(61): Show c.1757+71599_1757+71600insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR5A2_chr1_200022710_200182415	200024745	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0088 a0001c0004t0004g0088	1	215	0.0047	40	c.-31 others(51): Show c.-3103_-3102insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding		2964		chr1	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	76	0.0132	40	c.64 others(51): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	76	0.0132	40	c.64 others(51): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRG1_chr8_32543311_32779046	32582069	C C	CTATTTTA others(33): Show CTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03130.hp2 NA20129.hp2 others(1): Show HG01928.hp1 HG03130.hp2 NA20129.hp2 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0004 a0001c0001t0030 a0001c0001t0111 others(1): Show a0001c0001t0004 a0001c0001t0030 a0001c0001t0111 a0007c0007t0003	a0001c0001t0004g0100 a0001c0001t0030g0242 a0001c0001t0111g0240 others(1): Show a0001c0001t0004g0100 a0001c0001t0030g0242 a0001c0001t0111g0240 a0007c0007t0003g0241	4	19	0.2105	40	c.101 others(59): Show c.101-13733_101-13732insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTT	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG04115.hp2 others(1): Show HG00735.hp2 HG01109.hp1 HG04115.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0094 a0001c0001t0001g0136 a0001c0001t0007g0117	4	123	0.0325	40	c.700 others(59): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9			chr5	TogoVar
NRG3_chr10_81870194_82992178	82491295	T T	TATATATA others(33): Show TATATATATATATATATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	64	0.0156	40	c.953 others(61): Show c.953+132446_953+132447insCATATATATATATATATATACATA TATATATATATATATA	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82491297	T T	TATATATA others(33): Show TATATATATATATATATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02896.hp1 HG03139.hp1 others(2): Show HG00438.hp1 HG02896.hp1 HG03139.hp1 NA18942.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0045 a0001c0001t0005g0023 a0001c0001t0005g0060 others(2): Show a0001c0001t0001g0045 a0001c0001t0005g0023 a0001c0001t0005g0060 a0001c0002t0002g0015 a0001c0002t0002g0046	5	65	0.0769	40	c.953 others(61): Show c.953+132446_953+132447insCATATATATATATATATATATACA TATATATATATATATA	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01978.hp1 others(3): Show HG00738.hp2 HG01168.hp1 HG01978.hp1 HG02148.hp2 NA18948.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0090 a0001c0002t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0090	6	122	0.0492	40	c.-20 others(49): Show c.-208_-207insTCTCTCTCACACACACACACACACACACACACACAC ACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRSN1_chr6_24121215_24152530	24150816	C C	CAAGAAAG others(33): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01358.hp2 others(10): Show HG00438.hp1 HG00597.hp1 HG01358.hp2 HG01884.hp2 HG01934.hp2 HG03491.hp2 HG03492.hp1 NA18943.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA19077.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0019 a0001c0001t0039	a0001c0001t0001g0042 a0001c0001t0001g0171 a0001c0001t0002g0004 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0171 a0001c0001t0002g0004 a0001c0001t0002g0045 a0001c0001t0002g0134 a0001c0001t0002g0144 a0001c0001t0002g0163 a0001c0001t0002g0256 a0001c0001t0003g0025 a0001c0001t0017g0259 a0001c0001t0019g0089 a0001c0001t0039g0007	13	230	0.0565	40	c.48 others(51): Show c.4870_*4871insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3287		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150881	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 NA18984.hp1 HG00099.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0060 a0001c0001t0001g0001 a0001c0001t0001g0060	2	320	0.0063	40	c.49 others(51): Show c.4935_*4936insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3352		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50277391	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01099.hp1 others(37): Show HG00438.hp1 HG00738.hp2 HG01099.hp1 HG01169.hp2 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02132.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02683.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03942.hp1 NA18941.hp2 NA18948.hp1 NA18950.hp1 NA18959.hp2 NA18975.hp2 NA19030.hp1 NA20752.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0004c0006 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0001t0044 a0001c0001t0056 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0034 a0001c0002t0054 a0001c0003t0002 a0001c0004t0038 a0001c0005t0030 a0001c0012t0041 a0004c0006t0031 a0005c0013t0001	a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0056 others(37): Show a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0002g0033 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0017 a0001c0001t0006g0055 a0001c0001t0009g0030 a0001c0001t0009g0054 a0001c0001t0011g0064 a0001c0001t0018g0114 a0001c0001t0019g0067 a0001c0001t0020g0070 a0001c0001t0022g0004 a0001c0001t0025g0012 a0001c0001t0028g0008 a0001c0001t0032g0007 a0001c0001t0044g0039 a0001c0001t0056g0048 a0001c0001t0057g0038 a0001c0002t0001g0078 a0001c0002t0001g0112 a0001c0002t0002g0088 a0001c0002t0003g0098 a0001c0002t0005g0080 a0001c0002t0005g0082 a0001c0002t0005g0086 a0001c0002t0008g0095 a0001c0002t0010g0106 a0001c0002t0013g0110 a0001c0002t0034g0085 a0001c0002t0054g0096 a0001c0003t0002g0022 a0001c0004t0038g0087 a0001c0005t0030g0015 a0001c0012t0041g0102 a0004c0006t0031g0019 a0005c0013t0001g0111	40	89	0.4494	40	c.336 others(61): Show c.3365-40422_3365-40421insGAGGGAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGG	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334209	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp2 HG00738.hp1 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0010 a0001c0002t0005 a0001c0002t0010	a0001c0002t0005g0103 a0001c0002t0010g0077 a0001c0002t0005g0103 a0001c0002t0010g0077	2	49	0.0408	40	c.336 others(61): Show c.3365-97240_3365-97239insCATACATATATATATATATATATA TATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAA others(33): Show AAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 HG02970.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0013 a0001c0012t0041 a0001c0001t0013 a0001c0012t0041	a0001c0001t0013g0079 a0001c0012t0041g0102 a0001c0001t0013g0079 a0001c0012t0041g0102	2	58	0.0345	40	c.336 others(61): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CCTTCTTTCTTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAG others(33): Show AAAGAAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0081 a0001c0002t0049g0081	1	57	0.0175	40	c.336 others(61): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCCTT CTTTCTTTTCTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0092 a0001c0011t0015g0092	1	57	0.0175	40	c.336 others(61): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCCTTCTTT CTTTTCTTTCTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373690	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0022 a0001c0003t0002g0022	1	27	0.0370	40	c.336 others(61): Show c.3364+91751_3364+91752insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373690	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	27	0.0370	40	c.336 others(61): Show c.3364+91751_3364+91752insTTTCTTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50447737	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0085 a0001c0002t0034g0085	1	7	0.1429	40	c.336 others(61): Show c.3364+17665_3364+17704dupTATATATATATATATATATATATA TATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	7	0.1429	40	c.833 others(59): Show c.833-60032_833-60031insATATATATATATATATATATATATTT TTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0016 a0001c0001t0024g0016	1	7	0.1429	40	c.833 others(59): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATATTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78660253	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0014 a0001c0008t0004g0014	1	7	0.1429	40	c.122 others(59): Show c.1221+8950_1221+8951insATATATATATATATATATATATATAT ATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr14	TogoVar

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