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	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
NOL4_chr18_33846100_34229913	34024194	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	168	0.0060	24	c.773 others(41): Show c.773-4594_773-4593insATATATATATATATATATATATAT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOL4_chr18_33846100_34229913	34046607	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03195.hp2 HG03927.hp1 HG01109.hp2 HG03195.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0002g0036 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0002g0036	3	168	0.0179	24	c.773 others(43): Show c.773-27030_773-27007dupATATATATATATATATATATATAT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOL4_chr18_33846100_34229913	34046618	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA20129.hp1 HG01071.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0004g0004 a0001c0001t0001g0025 a0001c0001t0004g0004	2	168	0.0119	24	c.773 others(43): Show c.773-27018_773-27017insCATATATATATATATATATATATA		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOL4_chr18_33846100_34229913	34099362	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG03209.hp1 others(1): Show HG02622.hp1 HG02647.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0144 a0001c0001t0002g0127 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0144 a0001c0001t0002g0127 a0001c0001t0002g0148	4	168	0.0238	24	c.639 others(41): Show c.639+4684_639+4685insTTTTTTTTTTTTTTTTTTTTTTTT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	4/10						chr18	TogoVar
NOL9_chr1_6516347_6559513	6556385	T T	TTCTATCT others(17): Show TTCTATCTATCTATCTATCTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0075 a0008c0011t0075	a0008c0011t0075g0033 a0008c0011t0075g0033	1	340	0.0029	24	c.-19 others(35): Show c.-1907_-1884dupTAGATAGATAGATAGATAGATAGA		NOL9	ENSG00000162408.11	transcript	ENST00000377705.6	protein_coding					1873		chr1	TogoVar
NOM1_chr7_156944712_156978176	156954522	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp1 NA19055.hp1 HG02559.hp2 NA19030.hp1 NA19055.hp1	a0003 a0014 a0003 a0014	a0003c0007 a0014c0034 a0003c0007 a0014c0034	a0003c0007t0017 a0014c0034t0002 a0003c0007t0017 a0014c0034t0002	a0003c0007t0017g0073 a0014c0034t0002g0254 a0003c0007t0017g0073 a0014c0034t0002g0254	3	426	0.0070	24	c.130 others(41): Show c.1308+244_1308+245insTTTTTTTTTTTTTTTTTTTTTTTT		NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02015.hp1 HG01255.hp1 HG02015.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0034 a0006c0009t0001g0285 a0001c0001t0001g0034 a0006c0009t0001g0285	2	337	0.0059	24	c.180 others(41): Show c.1806+486_1806+487insATATATATATATATATATATATTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	337	0.0030	24	c.180 others(41): Show c.1806+486_1806+487insATATATATATATATATATATTTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP56_chr20_2647632_2663393	2652732	A A	AGAGCCTG others(17): Show AGAGCCTGGGCCTGGGCCTGGGCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00733.hp2 others(50): Show HG00438.hp1 HG00544.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02293.hp1 HG02523.hp1 HG02738.hp1 HG02738.hp2 HG03654.hp2 HG03688.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18984.hp2 NA18988.hp1 NA18993.hp2 NA19004.hp1 NA19004.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0027 a0001c0001t0002g0003 a0001c0001t0002g0022 others(4): Show a0001c0001t0001g0027 a0001c0001t0002g0003 a0001c0001t0002g0022 a0001c0002t0002g0003 a0001c0002t0002g0022 a0001c0002t0002g0063 a0001c0002t0002g0064	53	448	0.1183	24	c.3+7 others(33): Show c.3+70_3+71insAGCCTGGGCCTGGGCCTGGGCCTG		NOP56	ENSG00000101361.17	transcript	ENST00000329276.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0181 a0001c0003t0013g0181	1	182	0.0055	24	c.105 others(43): Show c.105+11493_105+11494insATATATTTTTTTTTTTTTTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162294222	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0145 a0001c0002t0009g0145	1	182	0.0055	24	c.271 others(41): Show c.271-6406_271-6405insGAAGGAAGGAAGGAAGGAGGGAAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117208391	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG06807.hp2 NA19043.hp1 HG01175.hp2 HG06807.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0033 a0001c0001 a0004c0033	a0001c0001t0033 a0004c0033t0171 a0001c0001t0033 a0004c0033t0171	a0001c0001t0033g0194 a0001c0001t0033g0201 a0004c0033t0171g0293 a0001c0001t0033g0194 a0001c0001t0033g0201 a0004c0033t0171g0293	3	294	0.0102	24	c.68 others(35): Show c.6894_*6917dupACACACACACACACACACACACAC		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	29/29				6917		chr12	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp2 HG03471.hp1 HG02886.hp1 HG02897.hp2 HG03471.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0045 a0001c0010t0088 a0001c0010t0092 a0001c0010t0045 a0001c0010t0088 a0001c0010t0092	a0001c0010t0045g0012 a0001c0010t0088g0171 a0001c0010t0092g0066 a0001c0010t0045g0012 a0001c0010t0088g0171 a0001c0010t0092g0066	3	294	0.0102	24	c.253 others(43): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAAAAAAAAAAAA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117319876	A A	AAGGAACC others(17): Show AAGGAACCTGAACACTAGTTCTAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0150 a0001c0002t0150	a0001c0002t0150g0287 a0001c0002t0150g0287	1	294	0.0034	24	c.726 others(41): Show c.726-8308_726-8285dupCCTAGAACTAGTGTTCAGGTTCCT		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	2/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117324715	C C	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp2 HG02723.hp1 others(5): Show HG01074.hp2 HG01884.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0001c0036	a0001c0001t0100 a0001c0001t0176 a0001c0003t0157 others(5): Show a0001c0001t0100 a0001c0001t0176 a0001c0003t0157 a0001c0005t0003 a0001c0012t0132 a0001c0012t0165 a0001c0012t0167 a0001c0036t0107	a0001c0001t0100g0054 a0001c0001t0176g0270 a0001c0003t0157g0050 others(5): Show a0001c0001t0100g0054 a0001c0001t0176g0270 a0001c0003t0157g0050 a0001c0005t0003g0046 a0001c0012t0132g0246 a0001c0012t0165g0231 a0001c0012t0167g0197 a0001c0036t0107g0169	8	294	0.0272	24	c.725 others(41): Show c.725+5606_725+5629dupTTTATTTATTTATTTATTTATTTA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	2/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02738.hp1 NA18999.hp2 others(3): Show HG02074.hp1 HG02738.hp1 NA18999.hp2 NA19030.hp2 NA19074.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0031 others(1): Show a0001c0001 a0001c0002 a0001c0031 a0003c0016	a0001c0001t0023 a0001c0001t0066 a0001c0001t0091 others(3): Show a0001c0001t0023 a0001c0001t0066 a0001c0001t0091 a0001c0002t0035 a0001c0031t0014 a0003c0016t0017	a0001c0001t0023g0211 a0001c0001t0066g0278 a0001c0001t0091g0082 others(3): Show a0001c0001t0023g0211 a0001c0001t0066g0278 a0001c0001t0091g0082 a0001c0002t0035g0063 a0001c0031t0014g0139 a0003c0016t0017g0157	6	294	0.0204	24	c.-42 others(43): Show c.-420-4264_-420-4241dupTCTCTCTCTCTCTCTCTCTCTCTC		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGGGAGAG others(17): Show TGGGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0078 a0001c0008t0078	a0001c0008t0078g0188 a0001c0008t0078g0188	1	294	0.0034	24	c.-42 others(43): Show c.-420-4241_-420-4240insTCTCTCTCTCTCTCTCTCTCTCCC		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117364203	G G	GAGAGAAT others(17): Show GAGAGAATGGCAGAGACAGGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0081 a0001c0007t0081	a0001c0007t0081g0145 a0001c0007t0081g0145	1	294	0.0034	24	c.-31 others(35): Show c.-3136_-3113dupTCTTTCCTGTCTCTGCCATTCTCT		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding					2578		chr12	TogoVar
NOS2_chr17_27751766_27805529	27799183	C C	CAGACCCA others(17): Show CAGACCCAGCCAGGCTTCATCACTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0240 a0002c0003t0012g0240	1	402	0.0025	24	c.-73 others(39): Show c.-73-325_-73-302dupCAGTGATGAAGCCTGGCTGGGTCT		NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	1/26						chr17	TogoVar
NOS3_chr7_150986017_151019588	150991148	G G	GAGAGGAT others(17): Show GAGAGGATCTCAGAACTCATTGTAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0286 a0001c0002t0004g0286	1	382	0.0026	24	c.-20 others(33): Show c.-203_-180dupAGAGGATCTCAGAACTCATTGTAC		NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	1/27				2631	INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH2NLB_chr1_148595285_148684746	148651162	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0036 a0001c0001t0030g0036	1	36	0.0278	24	c.4-1 others(39): Show c.4-11097_4-11074dupATATATATATATATATATATATAT		NOTCH2NLB	ENSG00000286019.2	transcript	ENST00000593495.4	protein_coding	1/4						chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(17): Show AGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG01074.hp2 HG01109.hp2 others(14): Show HG00140.hp2 HG01074.hp2 HG01109.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02148.hp1 HG02723.hp1 HG02735.hp2 HG02895.hp1 HG02976.hp1 HG03139.hp1 HG03654.hp1 HG03688.hp1 HG04115.hp1 HG04184.hp2 NA19068.hp1	a0004 a0030 a0004 a0030	a0004c0004 a0004c0042 a0030c0037 a0004c0004 a0004c0042 a0030c0037	a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 others(6): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0004t0006 a0004c0004t0008 a0004c0004t0014 a0004c0004t0041 a0004c0042t0001 a0030c0037t0032	a0004c0004t0001g0096 a0004c0004t0001g0107 a0004c0004t0001g0120 others(14): Show a0004c0004t0001g0096 a0004c0004t0001g0107 a0004c0004t0001g0120 a0004c0004t0001g0126 a0004c0004t0001g0157 a0004c0004t0001g0161 a0004c0004t0001g0255 a0004c0004t0003g0178 a0004c0004t0004g0216 a0004c0004t0004g0218 a0004c0004t0006g0192 a0004c0004t0008g0106 a0004c0004t0014g0115 a0004c0004t0014g0116 a0004c0004t0041g0214 a0004c0042t0001g0196 a0030c0037t0032g0242	17	260	0.0654	24	c.21_ others(29): Show c.21_44dupCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(10): Show p.Gly8_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(17): Show CGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0001 a0004c0034t0001	a0004c0034t0001g0138 a0004c0034t0001g0138	1	260	0.0039	24	c.44_ others(29): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGAGG	p.Gly others(10): Show p.Gly8_Gly15dup	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149419840	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	260	0.0039	24	c.136 others(43): Show c.136-11086_136-11085insATATATATATATATATATATATAT		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149460854	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCCTTCTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0021 a0001c0001t0009g0021	1	260	0.0039	24	c.470 others(41): Show c.470-2620_470-2619insCTTCTTTCTTTCTTTCTTTCTTTC		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149460859	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCCTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	260	0.0039	24	c.470 others(41): Show c.470-2620_470-2619insCTTCTTTCTTTGTTTCTTTCTTTC		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18986.hp2 HG00438.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0003g0107 a0001c0001t0001g0076 a0001c0001t0003g0107	2	164	0.0122	24	c.74- others(41): Show c.74-11073_74-11072insATATATATATATATATTTTTTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	164	0.0061	24	c.74- others(41): Show c.74-11073_74-11072insATATATATTTTTTTTTTTTTTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120779227	T T	TTCTCACC others(17): Show TTCTCACCATGTTGCCCGTGTTGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(160): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01978.hp1 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0005 a0001c0008 others(10): Show a0001c0001 a0001c0005 a0001c0008 a0001c0010 a0002c0002 a0002c0006 a0003c0003 a0004c0007 a0005c0004 a0006c0013 a0007c0011 a0008c0009 a0009c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0005t0001 a0001c0008t0001 a0001c0010t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0006t0002 a0003c0003t0005 a0004c0007t0001 a0005c0004t0001 a0006c0013t0001 a0007c0011t0014 a0008c0009t0001 a0009c0012t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(160): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0007g0094 a0001c0001t0007g0137 a0001c0001t0009g0016 a0001c0001t0012g0034 a0001c0001t0013g0128 a0001c0005t0001g0099 a0001c0005t0001g0102 a0001c0008t0001g0090 a0001c0010t0001g0085 a0002c0002t0002g0005 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0004g0048 a0002c0002t0004g0050 a0002c0002t0004g0057 a0002c0002t0006g0035 a0002c0002t0006g0046 a0002c0002t0010g0041 a0002c0006t0002g0051 a0002c0006t0002g0056 a0003c0003t0005g0075 a0003c0003t0005g0096 a0003c0003t0005g0140 a0004c0007t0001g0078 a0004c0007t0001g0079 a0005c0004t0001g0121 a0005c0004t0001g0147 a0006c0013t0001g0025 a0007c0011t0014g0149 a0008c0009t0001g0153 a0009c0012t0011g0049	163	164	0.9939	24	c.156 others(41): Show c.156-5746_156-5745insCTCACCATGTTGCCCGTGTTGTCT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041059	A A	AATATATA others(17): Show AATATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0156 a0001c0005t0003g0156	1	168	0.0060	24	c.74- others(41): Show c.74-11073_74-11072insATATATATATATGTATATATATAT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15155036	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02486.hp2 others(17): Show HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03225.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp2 NA18960.hp1 NA18975.hp1 NA18999.hp1 NA18999.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0012 a0030	a0001c0001 a0001c0005 a0001c0014 others(5): Show a0001c0001 a0001c0005 a0001c0014 a0002c0038 a0003c0004 a0007c0035 a0012c0022 a0030c0050	a0001c0001t0001 a0001c0005t0001 a0001c0014t0001 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0014t0001 a0002c0038t0018 a0003c0004t0001 a0007c0035t0014 a0012c0022t0005 a0030c0050t0012	a0001c0001t0001g0241 a0001c0001t0001g0279 a0001c0001t0001g0284 others(17): Show a0001c0001t0001g0241 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0299 a0001c0005t0001g0134 a0001c0014t0001g0310 a0001c0014t0001g0311 a0002c0038t0018g0302 a0003c0004t0001g0075 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0086 a0003c0004t0001g0092 a0003c0004t0001g0178 a0003c0004t0001g0250 a0007c0035t0014g0043 a0012c0022t0005g0061 a0012c0022t0005g0133 a0030c0050t0012g0158	20	340	0.0588	24	c.56 others(35): Show c.5625_*5626insTAAATAAATAAATAAATAAATAAA		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding					4001		chr19	TogoVar
NOTCH4_chr6_32189843_32229067	32214484	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02056.hp1 HG02886.hp2 others(7): Show HG01109.hp2 HG02056.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp1 NA18944.hp2 NA18971.hp2 NA19005.hp1 NA19082.hp2	a0001 a0007 a0037 others(1): Show a0001 a0007 a0037 a0043	a0001c0001 a0007c0006 a0007c0076 others(2): Show a0001c0001 a0007c0006 a0007c0076 a0037c0051 a0043c0054	a0001c0001t0001 a0001c0001t0002 a0007c0006t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0007c0006t0003 a0007c0076t0003 a0037c0051t0001 a0043c0054t0002	a0001c0001t0001g0267 a0001c0001t0002g0082 a0007c0006t0003g0029 others(5): Show a0001c0001t0001g0267 a0001c0001t0002g0082 a0007c0006t0003g0029 a0007c0006t0003g0306 a0007c0006t0003g0317 a0007c0076t0003g0304 a0037c0051t0001g0162 a0043c0054t0002g0073	10	437	0.0229	24	c.202 others(41): Show c.2022-230_2022-229insGTATATATATATATATATATATAT		NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	12/29						chr6	TogoVar
NOVA2_chr19_45928734_45978865	45964561	A A	ATCTCTCT others(17): Show ATCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0106 a0001c0002t0106	a0001c0002t0106g0357 a0001c0002t0106g0357	1	402	0.0025	24	c.86- others(39): Show c.86-3409_86-3408insGAGAGAGAGAGAGAGAGAGAGAGA		NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	1/3						chr19	TogoVar
NOX1_chrX_100838324_100879359	100853276	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	302	0.0033	24	c.805 others(41): Show c.805-1952_805-1951insGAAAGAGAGAGAAAGAAAGAAAGA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NOX1_chrX_100838324_100879359	100853280	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	302	0.0033	24	c.805 others(41): Show c.805-1956_805-1955insGAAAGAGAGAGAAAGAAAGAAAGA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NOX1_chrX_100838324_100879359	100853332	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	302	0.0033	24	c.805 others(41): Show c.805-2031_805-2008dupAAGAAAGAAAGAAAGAAAGAAAGA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NOX3_chr6_155390368_155460839	155445957	C C	CTATATAT others(17): Show CTATATATATAATATATATATGCTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0047 a0001c0006t0001g0047	1	362	0.0028	24	c.341 others(41): Show c.341-2540_341-2539insTAGCATATATATATTATATATATA		NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	4/13						chr6	TogoVar
NOX4_chr11_89319353_89496375	89362173	G G	GACACAGA others(17): Show GACACAGACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0278 a0001c0002t0009g0278	1	288	0.0035	24	c.113 others(43): Show c.1136-7131_1136-7130insGTGTGTGTGTGTGTGTGTCTGTGT		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	12/17						chr11	TogoVar
NOX4_chr11_89319353_89496375	89405080	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02809.hp1 HG03579.hp2 others(5): Show HG01081.hp1 HG02809.hp1 HG03579.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 a0001c0001 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 others(4): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 a0001c0001t0072 a0001c0003t0020 a0001c0012t0023	a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0019g0166 others(5): Show a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0019g0166 a0001c0001t0022g0140 a0001c0001t0028g0108 a0001c0001t0072g0093 a0001c0003t0020g0121 a0001c0012t0023g0181	8	288	0.0278	24	c.630 others(41): Show c.630-2562_630-2539dupCACACACACACACACACACACACA		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	8/17						chr11	TogoVar
NOX4_chr11_89319353_89496375	89461647	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01952.hp1 HG02280.hp1 others(10): Show HG01081.hp2 HG01952.hp1 HG02280.hp1 HG02572.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 NA18942.hp1 NA18947.hp2 NA19076.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0058 a0001c0001t0078 a0001c0001t0106 a0001c0001t0115 a0001c0001t0117 a0001c0003t0005	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(10): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0255 a0001c0001t0005g0178 a0001c0001t0012g0273 a0001c0001t0018g0175 a0001c0001t0058g0005 a0001c0001t0078g0143 a0001c0001t0106g0228 a0001c0001t0115g0253 a0001c0001t0117g0287 a0001c0003t0005g0180	13	288	0.0451	24	c.154 others(41): Show c.154-9753_154-9752insATTTATTTATTTATTTATTTATTT		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17						chr11	TogoVar
NOX5_chr15_69009695_69067762	69045536	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp2 others(42): Show HG00099.hp1 HG00280.hp1 HG00544.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02451.hp1 HG02523.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp1 NA18970.hp1 NA18985.hp2 NA19007.hp1 NA19009.hp1 NA19058.hp1 NA19087.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0014	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0012c0015 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0032 a0001c0001t0037 a0001c0003t0001 a0002c0002t0001 a0003c0004t0003 a0012c0015t0039 a0014c0017t0001	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0042 others(37): Show a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0002g0102 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0212 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0271 a0001c0001t0011g0245 a0001c0001t0011g0276 a0001c0001t0013g0172 a0001c0001t0032g0216 a0001c0001t0037g0290 a0001c0003t0001g0222 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0126 a0002c0002t0001g0193 a0002c0002t0001g0199 a0003c0004t0003g0051 a0003c0004t0003g0112 a0003c0004t0003g0122 a0012c0015t0039g0104 a0014c0017t0001g0103	45	396	0.1136	24	c.164 others(43): Show c.1648-1275_1648-1252dupTCTTTCTTTCTTTCTTTCTTTCTT		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
NOX5_chr15_69009695_69067762	69045582	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTCCCTTTC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	396	0.0025	24	c.164 others(43): Show c.1648-1238_1648-1237insCTTTCTTTCTTTCTTCCCTTTCTT		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
NOXRED1_chr14_77389021_77428523	77408892	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00741.hp1 others(16): Show HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01934.hp2 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02698.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04199.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0001c0002t0003 a0002c0004t0003 a0001c0002t0002 a0001c0002t0003 a0002c0004t0003	a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0003g0004 others(14): Show a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0003g0004 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0034 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0050 a0001c0002t0003g0053 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0002c0004t0003g0052	19	298	0.0638	24	c.350 others(41): Show c.350-1248_350-1247insAAAAAAAAAAAAAAAAAAAAAAAA		NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	2/5						chr14	TogoVar
NPAP1_chr15_24670775_24688393	24681379	T T	TGATAGAT others(17): Show TGATAGATAGATAGATAGATAGATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02897.hp1 others(4): Show HG02451.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03516.hp1 NA20300.hp1	a0007 a0008 a0007 a0008	a0007c0011 a0008c0009 a0007c0011 a0008c0009	a0007c0011t0017 a0008c0009t0017 a0008c0009t0044 a0007c0011t0017 a0008c0009t0017 a0008c0009t0044	a0007c0011t0017g0000 a0008c0009t0017g0000 a0008c0009t0044g0000 a0007c0011t0017g0000 a0008c0009t0017g0000 a0008c0009t0044g0000	7	444	0.0158	24	c.20 others(35): Show c.2064_*2065insAGATAGATAGATAGATAGATAGAT		NPAP1	ENSG00000185823.5	transcript	ENST00000329468.5	protein_coding	1/1				2065	INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAP1_chr15_24670775_24688393	24681816	T T	TGATAGAT others(17): Show TGATAGATAGATAGATAGATAGATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG01975.hp2 NA18991.hp2 others(1): Show HG00738.hp2 HG01975.hp2 NA18991.hp2 NA18998.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0005 a0001c0004 a0004c0005	a0001c0004t0033 a0004c0005t0030 a0001c0004t0033 a0004c0005t0030	a0001c0004t0033g0000 a0004c0005t0030g0000 a0001c0004t0033g0000 a0004c0005t0030g0000	4	444	0.0090	24	c.24 others(35): Show c.2483_*2506dupGATAGATAGATAGATAGATAGATA		NPAP1	ENSG00000185823.5	transcript	ENST00000329468.5	protein_coding	1/1				2507	INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAS1_chr19_47014837_47050775	47039875	C C	CTCATTTC others(17): Show CTCATTTCTCTGGTCTTTCATCTCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0072 a0006c0012t0001g0072	1	418	0.0024	24	c.962 others(39): Show c.962+315_962+316insTTCTCTGGTCTTTCATCTCTTCAT		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS2_chr2_100815139_101001829	100842081	G G	GCGCGCGC others(17): Show GCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0193 a0002c0005t0006g0193	1	288	0.0035	24	c.-23 others(43): Show c.-23+21668_-23+21669insGCGCGCACACACACACACACACAC		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100842081	G G	GCGCGCGC others(17): Show GCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03239.hp1 NA18939.hp1 others(2): Show HG02074.hp2 HG03239.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0017 a0001c0004t0010 a0003c0006t0008 a0001c0001t0017 a0001c0004t0010 a0003c0006t0008	a0001c0001t0017g0125 a0001c0004t0010g0147 a0001c0004t0010g0148 others(2): Show a0001c0001t0017g0125 a0001c0004t0010g0147 a0001c0004t0010g0148 a0001c0004t0010g0149 a0003c0006t0008g0194	5	288	0.0174	24	c.-23 others(43): Show c.-23+21668_-23+21669insGCGCGCGCACACACACACACACAC		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100842081	G G	GCGCGCGC others(17): Show GCGCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18978.hp1 HG03710.hp2 NA18978.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0059 a0002c0003t0003g0058 a0002c0003t0001g0059 a0002c0003t0003g0058	2	288	0.0069	24	c.-23 others(43): Show c.-23+21668_-23+21669insGCGCGCGCGCACACACACACACAC		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS2_chr2_100815139_101001829	100979480	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG06807.hp2 HG03139.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0130 a0001c0001t0001g0065 a0001c0001t0001g0130	2	288	0.0069	24	c.148 others(43): Show c.1482+1704_1482+1705insATATATATATATATATATATATAT		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results