Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(42): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18970.hp1 NA18983.hp2 NA18966.hp2 NA18970.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0003t0001g0008 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0003t0001g0008	3	112	0.0268	49	c.902 others(64): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(42): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	110	0.0091	49	c.902 others(64): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(42): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG02004.hp2 others(2): Show HG00609.hp1 HG00673.hp2 HG02004.hp2 NA19009.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0003t0001g0003 others(2): Show a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0003t0001g0003 a0001c0003t0001g0134 a0001c0005t0001g0001	5	114	0.0439	49	c.902 others(64): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(42): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	110	0.0091	49	c.902 others(64): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCATACCA others(42): Show TCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCCAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0176 a0006c0012t0001g0176	1	110	0.0091	49	c.902 others(64): Show c.902-964_902-963insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCCCACCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCATACCA others(42): Show TCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	110	0.0091	49	c.902 others(64): Show c.902-964_902-963insTACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCCTACCA others(42): Show TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02818.hp1 HG03540.hp1 others(1): Show HG02273.hp2 HG02818.hp1 HG03540.hp1 NA19056.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0007 a0001c0001 a0001c0006 a0004c0007	a0001c0001t0001 a0001c0006t0001 a0004c0007t0001 a0001c0001t0001 a0001c0006t0001 a0004c0007t0001	a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0006t0001g0153 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0006t0001g0153 a0004c0007t0001g0126	4	113	0.0354	49	c.902 others(64): Show c.902-965_902-964insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOL4L_chr20_32438059_32590333	32488803	C C	CCTTTCTT others(42): Show CCTTTCTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0066 a0001c0003t0009g0066	1	176	0.0057	49	c.700 others(68): Show c.700-14062_700-14061insAGAAGAAAGAAGAAGAAAGAAAGAAA GAAAGAAAAGAAAAGAAAGAAAG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	61	0.0164	49	c.180 others(66): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATATATATATATTTTTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(42): Show AGAGAGAGAGAGAGAGAAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp1 HG02280.hp2 others(3): Show HG01106.hp1 HG01261.hp1 HG02280.hp2 HG02698.hp1 HG03041.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0030 a0001c0002t0025 a0002c0006t0008	a0001c0001t0001g0055 a0001c0001t0001g0144 a0001c0001t0002g0077 others(3): Show a0001c0001t0001g0055 a0001c0001t0001g0144 a0001c0001t0002g0077 a0001c0001t0030g0034 a0001c0002t0025g0016 a0002c0006t0008g0095	6	101	0.0594	49	c.178 others(68): Show c.178-25798_178-25797insAGAGAGAGAAGAGAGGAGAGAGAGAG AGAAGAGAGAAGAGAGGAGAGAG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117322236	C C	CTCCCTCC others(42): Show CTCCCTCCTTCCTTCCCTCCCTCCTTTCCCTTCCTCTTTCCTTTCTTCCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01069.hp1 others(34): Show HG00558.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02056.hp2 HG02109.hp1 HG02622.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG03017.hp1 HG03139.hp2 HG04199.hp1 NA18747.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19074.hp1 NA19088.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0007c0018	a0001c0001t0025 a0001c0001t0032 a0001c0001t0056 others(24): Show a0001c0001t0025 a0001c0001t0032 a0001c0001t0056 a0001c0001t0063 a0001c0001t0098 a0001c0001t0112 a0001c0001t0175 a0001c0002t0158 a0001c0003t0001 a0001c0003t0152 a0001c0003t0156 a0001c0003t0162 a0001c0004t0005 a0001c0004t0033 a0001c0004t0121 a0001c0004t0122 a0001c0004t0123 a0001c0004t0124 a0001c0004t0126 a0001c0005t0003 a0001c0005t0010 a0001c0005t0028 a0001c0005t0030 a0001c0005t0089 a0001c0010t0092 a0001c0010t0093 a0007c0018t0003	a0001c0001t0025g0258 a0001c0001t0032g0098 a0001c0001t0056g0170 others(34): Show a0001c0001t0025g0258 a0001c0001t0032g0098 a0001c0001t0056g0170 a0001c0001t0063g0153 a0001c0001t0098g0218 a0001c0001t0112g0284 a0001c0001t0175g0283 a0001c0002t0158g0205 a0001c0003t0001g0272 a0001c0003t0152g0251 a0001c0003t0156g0202 a0001c0003t0162g0249 a0001c0004t0005g0232 a0001c0004t0005g0250 a0001c0004t0005g0262 a0001c0004t0005g0263 a0001c0004t0005g0264 a0001c0004t0033g0266 a0001c0004t0033g0267 a0001c0004t0121g0277 a0001c0004t0122g0212 a0001c0004t0123g0237 a0001c0004t0124g0204 a0001c0004t0126g0223 a0001c0005t0003g0082 a0001c0005t0003g0135 a0001c0005t0003g0151 a0001c0005t0003g0155 a0001c0005t0010g0134 a0001c0005t0028g0083 a0001c0005t0028g0123 a0001c0005t0030g0094 a0001c0005t0030g0143 a0001c0005t0089g0097 a0001c0010t0092g0171 a0001c0010t0093g0288 a0007c0018t0003g0133	37	281	0.1317	49	c.725 others(66): Show c.725+8060_725+8108dupAGGAAGAAAGGAAAGAGGAAGGGAAAGG AGGGAGGGAAGGAAGGAGGGA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	2/28			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(42): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp1 HG01167.hp2 others(7): Show HG00423.hp1 HG01074.hp1 HG01167.hp2 HG01361.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp2 NA18943.hp2 NA18966.hp1 NA18982.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0060 a0001c0069 a0004c0065	a0001c0001t0003 a0001c0001t0004 a0001c0004t0006 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0004t0006 a0001c0007t0005 a0001c0008t0002 a0001c0011t0002 a0001c0060t0011 a0001c0069t0004 a0004c0065t0005	a0001c0001t0003g0005 a0001c0001t0004g0174 a0001c0004t0006g0145 others(6): Show a0001c0001t0003g0005 a0001c0001t0004g0174 a0001c0004t0006g0145 a0001c0007t0005g0085 a0001c0008t0002g0097 a0001c0011t0002g0071 a0001c0060t0011g0063 a0001c0069t0004g0086 a0004c0065t0005g0120	10	269	0.0372	49	c.140 others(66): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCCCGAC CCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(42): Show AGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTCGG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0005 a0001c0062t0005	a0001c0062t0005g0095 a0001c0062t0005g0095	1	237	0.0042	49	c.140 others(66): Show c.140+8240_140+8241insCCGACCCACCCTGCACCCATTGCCCCAG GAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535891	A A	AGGGGGGA others(42): Show AGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0267	1	320	0.0031	49	c.140 others(66): Show c.140+8132_140+8133insCACCCACCATGCACCCATTGCCCCAGGA GGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535983	T T	TGGTGGGT others(42): Show TGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0082 a0001c0012t0002g0082	1	259	0.0039	49	c.140 others(66): Show c.140+8040_140+8041insCTGCACCCATTGCCCCAGGAGGGATCCT GAGTGCTCCCCCCCACCCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTUM_chr17_81947507_81966187	81952445	A A	AGAGGAGG others(42): Show AGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGAGGAGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	382	0.0026	49	c.51 others(58): Show c.515_*516insCCTCCCCTCCTCCTCTCCCTCCCCTCCTCCTCTCCC TCCCCTCCTCCTC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		61		chr17	TogoVar
NOVA1_chr14_26438090_26603033	26527089	A A	ACTGTTTA others(42): Show ACTGTTTAAAACTGTGCATGGAAAAGAGAACTCTGCTCACTAGGTGAAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp2 others(80): Show HG00099.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG01257.hp1 HG01261.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp1 NA19000.hp2 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030	a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 others(78): Show a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0001 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0042 a0001c0001t0003g0057 a0001c0001t0004g0079 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0092 a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0004g0125 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0225 a0001c0001t0006g0023 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0039 a0001c0001t0007g0002 a0001c0001t0007g0199 a0001c0001t0007g0201 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0009g0024 a0001c0001t0009g0028 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0041 a0001c0001t0010g0198 a0001c0001t0010g0200 a0001c0001t0010g0208 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0014g0012 a0001c0001t0014g0040 a0001c0001t0015g0191 a0001c0001t0018g0003 a0001c0001t0021g0025 a0001c0001t0024g0114 a0001c0001t0026g0096 a0001c0001t0030g0110	83	242	0.3430	49	c.281 others(68): Show c.281-46995_281-46947dupACTTCACCTAGTGAGCAGAGTTCTCT TTTCCATGCACAGTTTTAAACAG	NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	2/4			chr14	TogoVar
NOX1_chrX_100838324_100879359	100853294	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	281	0.0036	49	c.805 others(66): Show c.805-1970_805-1969insAGAAAGAAAGAAAGAAAGAAAGAGAAAG AGAGAGAAAGAAAGAAAGAAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NPAS1_chr19_47014837_47050775	47049884	G G	GTGGCTAT others(42): Show GTGGCTATCGTTAACCCTGGTGCGATTCTCTTCTCTTCTTTTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	416	0.0024	49	c.42 others(60): Show c.4233_*4234insTGGCTATCGTTAACCCTGGTGCGATTCTCTTCTC TTCTTTTTTTTGTTT	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding		4110		chr19	TogoVar
NPAS2_chr2_100815139_101001829	100932597	A A	ACCTAATT others(42): Show ACCTAATTCCAACTGTTGACGATGGAGTTCGTCATGTAGACATTCAGGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03225.hp2 HG02572.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0016t0002 a0001c0002t0001 a0001c0016t0002	a0001c0002t0001g0178 a0001c0016t0002g0124 a0001c0002t0001g0178 a0001c0016t0002g0124	2	286	0.0070	49	c.182 others(64): Show c.182-311_182-263dupCTAATTCCAACTGTTGACGATGGAGTTCGT CATGTAGACATTCAGGGCC	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPBWR2_chr20_64098802_64112565	64104778	C C	CAGGGGAG others(42): Show CAGGGGAGCACAGGCCATGGAGAGGACCGTCGGCCACAGCAGGGGAGTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG03688.hp1 NA20905.hp2 HG02735.hp1 HG03688.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0079 a0001c0002t0035 a0001c0002t0057 a0001c0001t0079 a0001c0002t0035 a0001c0002t0057	a0001c0001t0079g0088 a0001c0002t0035g0040 a0001c0002t0057g0059 a0001c0001t0079g0088 a0001c0002t0035g0040 a0001c0002t0057g0059	3	347	0.0086	49	c.10 others(60): Show c.1051_*1052insATACTCCCCTGCTGTGGCCGACGGTCCTCTCCAT GGCCTGTGCTCCCCT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	1051		chr20	TogoVar
NPHP4_chr1_5857811_5997425	5884448	G G	GACAACCA others(42): Show GACAACCAAGATCACTGCCCAAGCTCCCAGCCGAGCCCCCGTCCTACTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG03098.hp2 HG02647.hp1 HG02896.hp1 HG03098.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136 a0002c0006t0001g0134 a0002c0006t0001g0135 a0002c0006t0001g0136	3	106	0.0283	49	c.248 others(68): Show c.2485+2789_2485+2837dupGGAGTAGGACGGGGGCTCGGCTGGGA GCTTGGGCAGTGATCTTGGTTGT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5988744	G G	GCCTTGGC others(42): Show GCCTTGGCCCAGGGTCCCGCCTCCACCCACAGTGCACCCAGACGCTGCAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 NA18522.hp2 others(2): Show HG03041.hp2 HG03130.hp1 NA18522.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 others(2): Show a0001c0003t0001g0102 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142	5	207	0.0242	49	c.-38 others(66): Show c.-38-2466_-38-2418dupATGCAGCGTCTGGGTGCACTGTGGGTGG AGGCGGGACCCTGGGCCAAGG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	1/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5988805	G G	GGTCCCGC others(42): Show GGTCCCGCCTCCACCCACAGTGCACCCAGACGCTGCATCCTTGGCCCAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0005 a0014c0022t0005	a0014c0022t0005g0207 a0014c0022t0005g0207	1	208	0.0048	49	c.-38 others(66): Show c.-38-2479_-38-2478insTCTGGGCCAAGGATGCAGCGTCTGGGTG CACTGTGGGTGGAGGCGGGAC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	1/29			chr1	TogoVar
NPIPB15_chr16_74371306_74397115	74377817	C C	CCCCCTCC others(42): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	216	0.0046	49	c.-22 others(63): Show c.-22-130_-22-82dupTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCC	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR2E1_chr6_108161022_108193805	108193678	A A	AACAACAA others(42): Show AACAACAACAACGGAGGAGGAGGAAAAGAGAGAGATACACTAGATCGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	390	0.0026	49	c.62 others(60): Show c.6215_*6216insACAACAACAACGGAGGAGGAGGAAAAGAGAGAGA TACACTAGATCGCGT	NR2E1	ENSG00000112333.12	transcript	ENST00000368986.9	protein_coding		4874		chr6	TogoVar
NRIP1_chr21_14956235_15070000	15031239	G G	GCACGGAG others(42): Show GCACGGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19007.hp2 NA19068.hp2 others(1): Show HG01255.hp1 NA19007.hp2 NA19068.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0012 a0002c0003t0003 a0001c0001t0012 a0002c0003t0003	a0001c0001t0012g0078 a0001c0001t0012g0108 a0001c0001t0012g0112 others(1): Show a0001c0001t0012g0078 a0001c0001t0012g0108 a0001c0001t0012g0112 a0002c0003t0003g0109	4	392	0.0102	49	c.-45 others(70): Show c.-458+12255_-458+12256insGCCTTCCAGAGTGTACACACATAG AAAGGGAATGTGGTGATCCTCCGTG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031899	T T	TCACCACA others(42): Show TCACCACATTCCCTTTCTATGTGTATACACTCTGAAAGGTGCTCAAAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG02055.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0206 a0001c0001t0036g0207 a0001c0001t0001g0206 a0001c0001t0036g0207	2	396	0.0051	49	c.-45 others(70): Show c.-458+11547_-458+11595dupTCCTTTGAGCACCTTTCAGAGTGT ATACACATAGAAAGGGAATGTGGTG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP3_chr11_8975576_9009001	8978803	G G	GCCCCGTC others(42): Show GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0152 a0001c0001t0043g0152	1	297	0.0034	49	c.47 others(60): Show c.4741_*4742insTGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGG	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1772		chr11	TogoVar
NRSN1_chr6_24121215_24152530	24150886	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	397	0.0025	49	c.49 others(60): Show c.4940_*4941insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3357		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50334190	C C	CACATTTT others(42): Show CACATTTTATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp2 NA19030.hp1 others(1): Show HG02559.hp2 HG03139.hp2 NA19030.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0016 a0001c0002t0005 a0001c0001t0013 a0001c0001t0016 a0001c0002t0005	a0001c0001t0013g0079 a0001c0001t0016g0024 a0001c0002t0005g0080 others(1): Show a0001c0001t0013g0079 a0001c0001t0016g0024 a0001c0002t0005g0080 a0001c0002t0005g0082	4	96	0.0417	49	c.336 others(70): Show c.3365-97221_3365-97220insATATATATATATATATATATATAT ATATATATATATATATATAAAATGT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAA others(42): Show AAAGAAAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0040 a0001c0003t0014g0040	1	57	0.0175	49	c.336 others(70): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCTTCTTTCTTTTCTTTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA21309.hp1 NA18950.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0005t0030 a0001c0001t0010 a0001c0005t0030	a0001c0001t0010g0025 a0001c0005t0030g0015 a0001c0001t0010g0025 a0001c0005t0030g0015	2	8	0.2500	49	c.833 others(68): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03486.hp2 NA19012.hp2 HG01123.hp1 HG03486.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0008 a0001c0004t0007 a0001c0001t0003 a0001c0002t0008 a0001c0004t0007	a0001c0001t0003g0029 a0001c0002t0008g0089 a0001c0004t0007g0097 a0001c0001t0003g0029 a0001c0002t0008g0089 a0001c0004t0007g0097	3	9	0.3333	49	c.833 others(68): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAAAT others(42): Show AAAAAAATATATATATATATATATATATATATATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0323 a0002c0002t0006g0323	1	90	0.0111	49	c.658 others(66): Show c.658-4615_658-4614insATATATATGTGTATATATATATATATAT ATATATATATATATATTTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NTM_chr11_131365615_132341822	131874030	A A	AATATAAT others(42): Show AATATAATATAATATTATATATATATATAATAATATAATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	23	0.0435	49	c.83- others(66): Show c.83-37529_83-37528insATATAATATTATATATATATATAATAAT ATAATATAATATATATATATA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131928562	A A	ATGGTCTC others(42): Show ATGGTCTCCCGTCTGTGTTTTGTCCCACTGCAAACTCTGTTTGTTTTCTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp1 HG01515.hp2 others(2): Show HG00642.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0001c0002t0005	a0001c0001t0004g0043 a0001c0001t0008g0070 a0001c0002t0002g0065 others(2): Show a0001c0001t0004g0043 a0001c0001t0008g0070 a0001c0002t0002g0065 a0001c0002t0005g0026 a0001c0002t0005g0039	5	80	0.0625	49	c.167 others(68): Show c.167+17048_167+17096dupCTGTTTGTTTTCTGTGGTCTCCCGTC TGTGTTTTGTCCCACTGCAAACT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132069964	T T	TAACATGT others(42): Show TAACATGTCAAACTGATGATCACAGGTTAGTTTACACGTCACACAGCCAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0048 a0001c0001t0013g0048	1	86	0.0116	49	c.168 others(68): Show c.168-76314_168-76313insTGTCAAACTGATGATCACAGGTTAGT TTACACGTCACACAGCCAAAACA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132069981	G G	GATCACAG others(42): Show GATCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCAAACTGACC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	82	0.0122	49	c.168 others(68): Show c.168-76287_168-76286insTACACGTCACACAGCCAAAACACGTC AAACTGACCATCACAGGTTAGTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTRK2_chr9_84664729_85032054	84797660	T T	TTATATAT others(42): Show TTATATATTATATATACTATAATATATATATTATATATACTATAATAATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	127	0.0079	49	c.139 others(70): Show c.1396+45589_1396+45590insACTATAATATATATATTATATATA CTATAATAATATATATATTATATAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT19_chr19_32686821_32718792	32709958	C C	CTTCTTCT others(42): Show CTTCTTCTTTTTCTTCCTTTTTCTTCTTCTTCCTCTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	404	0.0025	49	c.922 others(64): Show c.922+567_922+568insTCTTCTTTTTCTTCCTTTTTCTTCTTCTTC CTCTCTTTTCTTTTCTTTT	NUDT19	ENSG00000213965.4	transcript	ENST00000397061.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
NUDT3_chr6_34274679_34397669	34366473	A A	AAGGGAGG others(42): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0091 a0001c0001t0024g0091	1	53	0.0189	49	c.100 others(68): Show c.100-24502_100-24501insCCCTCCCTCCCTCCCTCCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(42): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	255	0.0039	49	c.38 others(60): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP205_chr7_135552917_135653753	135570761	T T	TATTATAT others(42): Show TATTATATTAATATATTAATTATATTTATATATTATATTAATATATATTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG06807.hp1 HG00323.hp2 HG01074.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0164 a0001c0001t0001g0234 a0001c0001t0001g0130 a0001c0001t0001g0164 a0001c0001t0001g0234	3	350	0.0086	49	c.29- others(62): Show c.29-329_29-328insTAATTATATTTATATATTATATTAATATATAT TAATTATATTAATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUPR1_chr16_28527708_28543974	28542835	C C	CATGATCA others(42): Show CATGATCACAGGGCACTGTGCAAGGGGATAGGAGGAGACCTGCAAATGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	366	0.0027	49	c.-39 others(60): Show c.-3929_-3928insTGCATTTGCAGGTCTCCTCCTATCCCCTTGCACA GTGCCCTGTGATCAT	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding		3862		chr16	TogoVar
NXN_chr17_794310_984776	844348	T T	TACGTCCC others(42): Show TACGTCCCGTCCTGCCCTCCTTAGCTGGAAGGTGGAGACCAGGCCATCAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	231	0.0043	49	c.361 others(68): Show c.361-18319_361-18271dupGTGATGGCCTGGTCTCCACCTTCCAG CTAAGGAGGGCAGGACGGGACGT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OLFM3_chr1_101797560_102001926	101989594	T T	TTTACCCT others(42): Show TTTACCCTTCATATTATTTGCATGTTGAGTATAGAAAAGAAAAAAAATTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG00741.hp2 others(25): Show HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01993.hp1 HG02129.hp2 HG02145.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02976.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp2 NA18968.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012	a0001c0001t0001g0068 a0001c0001t0001g0201 a0001c0001t0001g0202 others(25): Show a0001c0001t0001g0068 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0008g0227 a0001c0002t0001g0210 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0002g0203 a0001c0002t0012g0215	28	304	0.0921	49	c.69+ others(64): Show c.69+7105_69+7153dupTAATTTTTTTTCTTTTCTATACTCAACATG CAAATAATATGAAGGGTAA	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFM3_chr1_101797560_102001926	101991016	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	142	0.0070	49	c.69+ others(64): Show c.69+5731_69+5732insATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518196	A A	AGGAGAGG others(42): Show AGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGACGGGAGACG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03927.hp2 NA19240.hp2 others(1): Show HG01257.hp2 HG03927.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0102 others(1): Show a0001c0002t0002g0095 a0001c0002t0002g0099 a0001c0002t0002g0102 a0001c0002t0002g0105	4	359	0.0111	49	c.121 others(68): Show c.1215+9064_1215+9065insCGTCTCCCGTCTCCCCTCTCCCCTCT CCCCTCTCCCCTCTCCCCTCTCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518196	A A	AGGAGAGG others(42): Show AGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGACGGGAGAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18954.hp1 HG00733.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0093 a0001c0002t0002g0086 a0001c0002t0002g0093	2	357	0.0056	49	c.121 others(68): Show c.1215+9064_1215+9065insCCTCTCCCGTCTCCCCTCTCCCCTCT CCCCTCTCCCCTCTCCCCTCTCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar

Search by Variant

Search

Search Results