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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NOC4L_chr12_132139457_132157468	132149212	C C	CGCCGCCT others(34): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	272	0.0037	41	c.901 others(56): Show c.901+325_901+326insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149617	G G	GCTCACAC others(34): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	247	0.0040	41	c.901 others(56): Show c.901+760_901+761insTCACTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149739	C C	CCGCCGCC others(34): Show CCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	292	0.0034	41	c.901 others(56): Show c.901+844_901+845insCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAG		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14						chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149884	C C	CACACCAC others(34): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	289	0.0035	41	c.901 others(56): Show c.901+989_901+990insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCA		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14						chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149884	C C	CACACCAC others(34): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19056.hp1 HG03516.hp2 NA19056.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0040 a0004c0007t0001g0126 a0001c0001t0001g0040 a0004c0007t0001g0126	2	290	0.0069	41	c.901 others(56): Show c.901+989_901+990insACACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCA		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14						chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149916	C C	CGCCGCCT others(34): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	278	0.0036	41	c.901 others(58): Show c.901+1029_901+1030insACTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150087	C C	CGCCGCCT others(34): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	272	0.0037	41	c.902 others(56): Show c.902-887_902-847dupTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150145	C C	CACCACAC others(34): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	239	0.0042	41	c.902 others(56): Show c.902-798_902-797insACTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150307	C C	CGCCGCCT others(34): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	264	0.0038	41	c.902 others(56): Show c.902-666_902-665insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150527	C C	CGCCGCCT others(34): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	268	0.0037	41	c.902 others(56): Show c.902-447_902-407dupTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOL4_chr18_33846100_34229913	33886928	C C	CTATATAT others(34): Show CTATATATCTAGATATATTATATCTAGATATATCTATATACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp1 HG01169.hp1 others(8): Show HG00323.hp1 HG01071.hp1 HG01169.hp1 HG01175.hp2 HG01891.hp1 HG02622.hp1 HG03098.hp1 HG03209.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 others(8): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0067 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0127 a0001c0001t0002g0147 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0013g0167	11	166	0.0663	41	c.154 others(60): Show c.1543-3505_1543-3504insTGTATATAGATATATCTAGATATAAT ATATCTAGATATATA		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	9/10						chr18	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01257.hp1 HG02572.hp2 HG01192.hp2 HG01257.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0004 a0001c0004t0003 a0001c0001t0002 a0001c0002t0004 a0001c0004t0003	a0001c0001t0002g0081 a0001c0002t0004g0015 a0001c0004t0003g0155 a0001c0001t0002g0081 a0001c0002t0004g0015 a0001c0004t0003g0155	3	27	0.1111	41	c.177 others(60): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(34): Show AGAGAGAGAAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18960.hp2 NA19074.hp1 others(1): Show HG02630.hp2 NA18960.hp2 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0002 a0001c0002t0004	a0001c0001t0002g0049 a0001c0002t0002g0182 a0001c0002t0004g0110 others(1): Show a0001c0001t0002g0049 a0001c0002t0002g0182 a0001c0002t0004g0110 a0001c0002t0004g0120	4	99	0.0404	41	c.178 others(60): Show c.178-25798_178-25797insAAGAGAGGAGAGAGAGAGAGAAGAGA GAAGAGAGGAGAGAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(34): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19091.hp2 NA18948.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0020 a0001c0002t0002g0039 a0001c0001t0001g0020 a0001c0002t0002g0039	2	97	0.0206	41	c.178 others(60): Show c.178-25798_178-25797insAGAGAGAGAGAGAGAGAGAGAAGAGA GAAGAGAGGAGAGAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	51	0.0196	41	c.74- others(58): Show c.74-11085_74-11084insATATATATATATATATATATATATATAT ATATATATATATA		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15173052	C C	CCTCCTCC others(34): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0171 a0002c0003t0003g0171	1	119	0.0084	41	c.473 others(60): Show c.4736+1015_4736+1016insAAGAAGAAGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAG		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173052	C C	CCTCCTCC others(34): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCTTCCTCTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0064 a0002c0003t0004g0064	1	119	0.0084	41	c.473 others(60): Show c.4736+1015_4736+1016insAAGAGGAAGAGGAAGAGGAGGAGGAG GAGGAGGAGGAGGAG		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173052	C C	CCTCCTCC others(34): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCCTCTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02074.hp1 NA18944.hp2 HG01943.hp2 HG02074.hp1 NA18944.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0003 a0002c0006t0003 a0002c0003t0003 a0002c0006t0003	a0002c0003t0003g0036 a0002c0003t0003g0136 a0002c0006t0003g0324 a0002c0003t0003g0036 a0002c0003t0003g0136 a0002c0006t0003g0324	3	121	0.0248	41	c.473 others(60): Show c.4736+1015_4736+1016insAAGAGGAAGAAGAAGAGGAGGAGGAG GAGGAGGAGGAGGAG		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NOX5_chr15_69009695_69067762	69045536	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0129 a0003c0004t0004g0129	1	84	0.0119	41	c.164 others(60): Show c.1648-1286_1648-1285insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15						chr15	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(34): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0018 a0001c0001t0013g0018	1	62	0.0161	41	c.-79 others(50): Show c.-793_-792insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544827	A A	ATATATAT others(34): Show ATATATATATATATATATATTATATATATATATATAATTATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0089 a0001c0001t0049g0089	1	66	0.0152	41	c.469 others(60): Show c.469-15293_469-15292insATATATATATATATATATTATATATA TATATATAATTATGT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPHP3_chr3_132675609_132727409	132719416	A A	AACCCCTA others(34): Show AACCCCTACCAATACAACACAAAGATCAGAACCACCATCACC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0236 a0001c0002t0002g0236	1	340	0.0029	41	c.520 others(56): Show c.520-273_520-272insGGTGATGGTGGTTCTGATCTTTGTGTTGTA TTGGTAGGGGT		NPHP3	ENSG00000113971.21	transcript	ENST00000337331.10	protein_coding	2/26						chr3	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(34): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0176 a0017c0019t0001g0176	1	32	0.0313	41	c.517 others(58): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPIPB15_chr16_74371306_74397115	74377848	C C	CCTCTCCC others(34): Show CCTCTCCCTCCCCCTCCTCCTCCCCTCCCCCTCCCCCTCCCG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	241	0.0041	41	c.-22 others(56): Show c.-22-104_-22-103insCTCTCCCTCCCCCTCCTCCTCCCCTCCCCC TCCCCCTCCCG		NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7						chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28456583	T T	TTTCGGTG others(34): Show TTTCGGTGATTGTTCCACCTCATCCACCCTCCACCTCTTGGG	frameshift_variant frameshift_variant	HIGH	NA18961.hp2 NA18961.hp2	a0023 a0023	a0023c0020 a0023c0020	a0023c0020t0002 a0023c0020t0002	a0023c0020t0002g0281 a0023c0020t0002g0281	1	380	0.0026	41	c.108 others(50): Show c.1085_1086insCCCAAGAGGTGGAGGGTGGATGAGGTGGAACAATCA CCGAA	p.Lys others(5): Show p.Lys362fs	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	2983/3238	1085/1245	362/414			chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28470625	A A	AAGGGGAG others(34): Show AAGGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	305	0.0033	41	c.-18 others(50): Show c.-188_-187insCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCT CCCCT		NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	1/7				188		chr16	TogoVar
NPR2_chr9_35786591_35814731	35789627	A A	AGGACTAT others(34): Show AGGACTATTGATGTGCATAATGACATATGCATAATGACAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03927.hp2 HG03669.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	414	0.0048	41	c.-27 others(52): Show c.-2782_-2781insGGACTATTGATGTGCATAATGACATATGCATAAT GACAAGT		NPR2	ENSG00000159899.16	transcript	ENST00000342694.7	protein_coding					1963		chr9	TogoVar
NRK_chrX_105817539_105963610	105826401	A A	AATATATT others(34): Show AATATATTATATATATTATCATATATATAATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18961.hp1 HG02451.hp2 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0009 a0002c0002t0005 a0002c0002t0009	a0002c0002t0005g0201 a0002c0002t0009g0204 a0002c0002t0005g0201 a0002c0002t0009g0204	2	154	0.0130	41	c.57+ others(56): Show c.57+3505_57+3506insTATATATATTATCATATATATAATATATAT ATAATATATAT		NRK	ENSG00000123572.17	transcript	ENST00000243300.14	protein_coding	1/28					INFO_REALIGN_3_PRIME	chrX	TogoVar
NRROS_chr3_196634694_196667004	196647100	T T	TTGGACTT others(34): Show TTGGACTTTTGATGGTTTCCACTTTTTTATTATTCTTACTAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	470	0.0021	41	c.-14 others(58): Show c.-14+7228_-14+7268dupGACTTTTGATGGTTTCCACTTTTTTATT ATTCTTACTAATG		NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
NRXN1_chr2_49913503_51037132	50277405	C C	CTTCCTTC others(34): Show CTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp2 HG02647.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0047 a0001c0001t0017 a0001c0002t0047	a0001c0001t0017g0073 a0001c0002t0047g0101 a0001c0001t0017g0073 a0001c0002t0047g0101	2	113	0.0177	41	c.336 others(62): Show c.3365-40436_3365-40435insAAGGAGGGAGGAAGGAAGGGAGGG AGGAAGGAAGGAAGGAA		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334190	C C	CACATTTT others(34): Show CACATTTTATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0063 a0001c0001t0018g0063	1	93	0.0108	41	c.336 others(62): Show c.3365-97221_3365-97220insATATATATATATATATATATATAT ATATATGTATAAAATGT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334192	A A	AATTTTAT others(34): Show AATTTTATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0091 a0001c0002t0003g0091	1	44	0.0227	41	c.336 others(62): Show c.3365-97223_3365-97222insATATATATATATATATATATATAT ATATATATATATAAAAT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0085 a0001c0002t0034g0085	1	7	0.1429	41	c.833 others(60): Show c.833-60032_833-60031insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22						chr2	TogoVar
NRXN3_chr14_78165373_79873291	79631711	C C	CCCAATCA others(34): Show CCCAATCAGCACTCTGTGTCTAGCTAAAGGTTTGTAAACGCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01109.hp2 others(17): Show HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG02257.hp1 HG02922.hp1 HG02922.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0002c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(16): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0002t0007 a0001c0002t0011 a0001c0003t0004 a0001c0003t0009 a0001c0003t0012 a0001c0004t0001 a0001c0004t0005 a0001c0004t0006 a0001c0006t0017 a0001c0007t0002 a0001c0008t0004 a0001c0010t0001 a0002c0005t0005 a0002c0005t0016	a0001c0001t0002g0018 a0001c0001t0008g0008 a0001c0001t0010g0006 others(17): Show a0001c0001t0002g0018 a0001c0001t0008g0008 a0001c0001t0010g0006 a0001c0001t0013g0007 a0001c0001t0014g0003 a0001c0002t0007g0009 a0001c0002t0011g0016 a0001c0003t0004g0015 a0001c0003t0009g0024 a0001c0003t0012g0019 a0001c0004t0001g0005 a0001c0004t0005g0002 a0001c0004t0006g0021 a0001c0006t0017g0001 a0001c0007t0002g0010 a0001c0007t0002g0020 a0001c0008t0004g0014 a0001c0010t0001g0012 a0002c0005t0005g0004 a0002c0005t0016g0022	20	24	0.8333	41	c.344 others(62): Show c.3445-32027_3445-31987dupCACCAATCAGCACTCTGTGTCTAG CTAAAGGTTTGTAAACG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177159030	G G	GATATATA others(34): Show GATATATATATATATATATATATATATATATATATGAATGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0125 a0001c0003t0007g0125	1	196	0.0051	41	c.927 others(60): Show c.927+23018_927+23019insATATATATATATATATGAATGATATA TATATATATATATAT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSG1_chr4_4382102_4424058	4411784	A A	ACAACACA others(34): Show ACAACACAACACAACACAACACAACACAACACAACACAAAAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0135 a0001c0001t0011g0135	1	374	0.0027	41	c.357 others(58): Show c.357+2101_357+2102insCAACACAACACAACACAACACAACACAA CACAACACAAAAC		NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4						chr4	TogoVar
NSUN6_chr10_18540561_18656587	18562666	A A	AGGAGAAT others(34): Show AGGAGAATGGAATGGAATGCAGAATAGAGAACGGAATGGAAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01192.hp1 others(13): Show HG01070.hp1 HG01071.hp2 HG01192.hp1 HG01975.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 others(13): Show a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0149 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0020g0147	16	344	0.0465	41	c.923 others(60): Show c.923-10736_923-10696dupATTCCATTCCGTTCTCTATTCTGCAT TCCATTCCATTCTCC		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10						chr10	TogoVar
NT5DC4_chr2_112716020_112744095	112720012	C C	CTTTTCCC others(34): Show CTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA20129.hp2 NA19240.hp2 NA20129.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0072 a0012c0014t0001g0073 a0012c0014t0001g0072 a0012c0014t0001g0073	2	274	0.0073	41	c.-10 others(52): Show c.-1068_-1067insTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTT		NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding					1007		chr2	TogoVar
NTM_chr11_131365615_132341822	131730721	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	66	0.0152	41	c.83- others(60): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCTCACA others(34): Show CTCTCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	107	0.0093	41	c.101 others(62): Show c.1018+14874_1018+14875insTCTCACACACACACACACACACAC ACACACACACACACACA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6						chr17	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0118 a0001c0001t0008g0118	1	69	0.0145	41	c.101 others(62): Show c.1019-48646_1019-48645insAAAAAAAAAAAAAAATATATATAT ATATATATATATATATA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0116 a0001c0001t0016g0116	1	69	0.0145	41	c.101 others(62): Show c.1019-48646_1019-48645insAAAAAAAAAAATATATATATATAT ATATATATATATATATA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN5_chr19_48656407_48678017	48669435	C C	CTACCATC others(34): Show CTACCATCACCATCACACCACCACCATCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00735.hp2 others(37): Show HG00099.hp2 HG00280.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01884.hp1 HG02559.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03491.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051	40	345	0.1159	41	c.631 others(56): Show c.631+920_631+921insATGGTGGTGATGGTGATGGTGGTGGTGTGA TGGTGATGGTA		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NTSR1_chr20_62703836_62767771	62738024	G G	GCCGCATC others(34): Show GCCGCATCCCTTTCCCTGCAGTGCCCATCTGCCCACGTCTGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(59): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01256.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp2 NA19004.hp2 NA19043.hp2 NA19074.hp1 NA19074.hp2 NA19086.hp2 NA20752.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031 a0001c0001t0049 a0001c0001t0052 a0001c0001t0057 a0001c0002t0027 a0001c0002t0041 a0001c0002t0043 a0001c0002t0045 a0001c0003t0012 a0001c0012t0007 a0004c0006t0006	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0021 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0255 a0001c0001t0001g0283 a0001c0001t0002g0285 a0001c0001t0006g0296 a0001c0001t0007g0077 a0001c0001t0007g0139 a0001c0001t0007g0161 a0001c0001t0007g0181 a0001c0001t0009g0026 a0001c0001t0009g0125 a0001c0001t0009g0182 a0001c0001t0017g0204 a0001c0001t0018g0222 a0001c0001t0020g0194 a0001c0001t0029g0269 a0001c0001t0031g0210 a0001c0001t0049g0128 a0001c0001t0052g0166 a0001c0001t0057g0087 a0001c0002t0027g0134 a0001c0002t0041g0089 a0001c0002t0043g0022 a0001c0002t0045g0196 a0001c0003t0012g0122 a0001c0003t0012g0126 a0001c0012t0007g0218 a0004c0006t0006g0080	62	243	0.2551	41	c.715 others(60): Show c.715-16658_715-16618dupGCATCCCTTTCCCTGCAGTGCCCATC TGCCCACGTCTGCCC		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62738042	C C	CAGTGCCC others(34): Show CAGTGCCCATCTGCCCACGTCTGCCCGCATCCCTTTCCCTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02572.hp2 others(2): Show HG01255.hp1 HG02055.hp2 HG02572.hp2 HG02976.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0005 a0001c0001t0018 a0001c0001t0023 others(1): Show a0001c0001t0005 a0001c0001t0018 a0001c0001t0023 a0004c0006t0006	a0001c0001t0005g0297 a0001c0001t0018g0298 a0001c0001t0023g0280 others(2): Show a0001c0001t0005g0297 a0001c0001t0018g0298 a0001c0001t0023g0280 a0004c0006t0006g0294 a0004c0006t0006g0295	5	314	0.0159	41	c.715 others(60): Show c.715-16618_715-16617insGCATCCCTTTCCCTGTAGTGCCCATC TGCCCACGTCTGCCC		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NTS_chr12_85869295_85887992	85879841	T T	TTTTTTGT others(34): Show TTTTTTGTATATTTTTGTATATAAAATATATTTTTATGTATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp1 HG02486.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0132 a0001c0001t0001g0134	2	414	0.0048	41	c.360 others(58): Show c.360+1276_360+1277insTGTATATTTTTGTATATAAAATATATTT TTATGTATATTTT		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(34): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0309 a0005c0008t0002g0309	1	255	0.0039	41	c.38 others(52): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTCT		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding					2907		chr11	TogoVar
NUP210L_chr1_153987690_154160073	154140666	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp2 HG01099.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0016 a0001c0001t0001g0033	2	281	0.0071	41	c.567 others(56): Show c.567-715_567-714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	4/39						chr1	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	20	0.0500	41	c.274 others(60): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32						chr11	TogoVar
NUPR2_chr7_56109681_56121417	56115648	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	445	0.0022	41	c.6+ others(54): Show c.6+366_*6+367insTATATATATATATATATATATATATATATATA TATATATAT		NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1						chr7	TogoVar

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