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
NRG1_chr8_32543311_32779046	32634099	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0020 a0002c0002t0027g0020	1	109	0.0092	31	c.502 others(50): Show c.502+17233_502+17234insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	120	0.0083	31	c.700 others(50): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9			chr5	TogoVar
NRP1_chr10_33172493_33339667	33199389	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0002 a0002c0030t0002	a0002c0030t0002g0155 a0002c0030t0002g0155	1	152	0.0066	31	c.186 others(50): Show c.1865-1681_1865-1680insATATATATATATATATATATATATAT ATATA	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRROS_chr3_196634694_196667004	196634705	G G	GGAGAAGT others(24): Show GGAGAAGTGGGGACTGGGAGAAGTGGGGGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG01256.hp1 others(3): Show HG00140.hp1 HG00597.hp1 HG01256.hp1 HG02738.hp1 HG03688.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0001 a0001c0002t0001 a0001c0018t0001 a0001c0001t0001 a0001c0002t0001 a0001c0018t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 others(3): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0343 a0001c0002t0001g0167 a0001c0018t0001g0164	6	466	0.0129	31	c.-51 others(42): Show c.-5184_-5183insGAGAAGTGGGGACTGGGAGAAGTGGGGGCTA	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding		4988		chr3	TogoVar
NRSN1_chr6_24121215_24152530	24150816	C C	CAGAAAGA others(24): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	218	0.0046	31	c.48 others(42): Show c.4870_*4871insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3287		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150881	A A	AAGAAAGA others(24): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	319	0.0031	31	c.49 others(42): Show c.4935_*4936insAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3352		chr6	TogoVar
NRSN2_chr20_342111_359862	359053	T T	TTGTCCAG others(24): Show TTGTCCAGGCTGGTCTGGAACTCCTAGGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	412	0.0024	31	c.54 others(42): Show c.5418_*5419insTGTCCAGGCTGGTCTGGAACTCCTAGGCTCA	NRSN2	ENSG00000125841.13	transcript	ENST00000382285.7	protein_coding		4192		chr20	TogoVar
NRXN1_chr2_49913503_51037132	50334192	A A	AATTTTAT others(24): Show AATTTTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0108 a0001c0002t0006g0108	1	44	0.0227	31	c.336 others(52): Show c.3365-97223_3365-97222insATATATATATATATATATATATAT ATAAAAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAGG others(24): Show AAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18959.hp2 NA18975.hp2 others(2): Show HG02145.hp2 NA18959.hp2 NA18975.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0008 a0001c0001t0035 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0035 a0001c0001t0057 a0001c0005t0012	a0001c0001t0002g0033 a0001c0001t0008g0058 a0001c0001t0035g0060 others(2): Show a0001c0001t0002g0033 a0001c0001t0008g0058 a0001c0001t0035g0060 a0001c0001t0057g0038 a0001c0005t0012g0002	5	61	0.0820	31	c.336 others(52): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CCTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAGGAAAG others(24): Show AAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0067 a0001c0001t0019g0067	1	57	0.0175	31	c.336 others(52): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0004 a0001c0001t0022g0004	1	7	0.1429	31	c.833 others(50): Show c.833-60032_833-60031insATATATATATATATATATATTTTTTT TTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0009 a0001c0001t0027g0009	1	7	0.1429	31	c.833 others(50): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	79508390	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0009 a0001c0002t0007g0009	1	4	0.2500	31	c.344 others(52): Show c.3444+41004_3444+41005insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSG1_chr4_4382102_4424058	4411784	A A	ACAACACA others(24): Show ACAACACAACACAACACAACACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	374	0.0027	31	c.357 others(48): Show c.357+2101_357+2102insCAACACAACACAACACAACACAAAACAA AAC	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4			chr4	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0169 a0003c0003t0003g0169	1	235	0.0043	31	c.754 others(46): Show c.754-454_754-453insAAAAAAAAAAAAAAATATATATATATATAT A	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18906.hp1 HG02080.hp1 NA18906.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0011 a0003c0003 a0009c0011	a0003c0003t0003 a0009c0011t0051 a0003c0003t0003 a0009c0011t0051	a0003c0003t0003g0173 a0009c0011t0051g0266 a0003c0003t0003g0173 a0009c0011t0051g0266	2	236	0.0085	31	c.754 others(46): Show c.754-454_754-453insAAAAAAAAAAAAATATATATATATATATAT A	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19043.hp1 NA19055.hp2 NA18998.hp2 NA19043.hp1 NA19055.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0007 a0003c0003t0008 a0001c0001t0007 a0003c0003t0008	a0001c0001t0007g0136 a0003c0003t0008g0001 a0001c0001t0007g0136 a0003c0003t0008g0001	3	237	0.0127	31	c.754 others(46): Show c.754-454_754-453insAAAAAAAAAAATATATATATATATATATAT A	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19060.hp2 HG02738.hp2 NA19060.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0024 a0003c0003t0003 a0003c0003t0024	a0003c0003t0003g0165 a0003c0003t0024g0163 a0003c0003t0003g0165 a0003c0003t0024g0163	2	236	0.0085	31	c.754 others(46): Show c.754-454_754-453insAAAAAAAAATATATATATATATATATATAT A	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03669.hp1 NA18975.hp1 HG02165.hp1 HG03669.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0074 a0001c0001t0001g0094 a0001c0001t0001g0020 a0001c0001t0001g0074 a0001c0001t0001g0094	3	92	0.0326	31	c.658 others(48): Show c.658-4615_658-4614insATATATATATATATATATATATATATAT ATT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103183275	A A	ATATATAT others(24): Show ATATATATATATATATTTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0075 a0001c0002t0003g0075	1	276	0.0036	31	c.-16 others(50): Show c.-168-1948_-168-1947insATATATATATATATAAATATATATAT ATATA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NT5DC4_chr2_112716020_112744095	112720012	C C	CCTTCCTT others(24): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	273	0.0037	31	c.-10 others(42): Show c.-1068_-1067insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1007		chr2	TogoVar
NT5M_chr17_17298373_17352663	17305103	G G	GGGGAGTC others(24): Show GGGGAGTCTCATTTATAGGCAGCGCTCGGCAT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	346	0.0029	31	c.267 others(48): Show c.267+1294_267+1295insCATTTATAGGCAGCGCTCGGCATGGGAG TCT	NT5M	ENSG00000205309.14	transcript	ENST00000389022.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTM_chr11_131365615_132341822	131730721	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG04228.hp1 NA20752.hp1 HG01071.hp2 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0002g0033 a0001c0002t0001g0077 a0001c0001t0001g0038 a0001c0001t0002g0033 a0001c0002t0001g0077	3	68	0.0441	31	c.83- others(50): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873537	T T	TGTGTGTG others(24): Show TGTGTGTGTATATATATACGTATATATATACC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	77	0.0130	31	c.83- others(48): Show c.83-38025_83-38024insGTGTGTATATATATACGTATATATATAC CGT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131874030	A A	AATATAAT others(24): Show AATATAATATAATATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0048 a0001c0001t0013g0048	1	23	0.0435	31	c.83- others(48): Show c.83-37529_83-37528insATATAATATAATATATATATATATATAT ATA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132070068	A A	AAGTTAAC others(24): Show AAGTTAACACGTCAAACTGACCGTCACAGGTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp2 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0004g0029 a0001c0001t0001g0004 a0001c0001t0004g0029	2	84	0.0238	31	c.168 others(50): Show c.168-76201_168-76200insAACTGACCGTCACAGGTTAGTTAACA CGTCA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	132070466	A A	ACTGACCG others(24): Show ACTGACCGTCACAGGTTAGTTAACACGTCACC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp2 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0004g0029 a0001c0001t0001g0004 a0001c0001t0004g0029	2	86	0.0233	31	c.168 others(50): Show c.168-75815_168-75814insTGACCGTCACAGGTTAGTTAACACGT CACCC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCACACA others(24): Show CTCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01981.hp2 HG02738.hp1 others(5): Show HG01069.hp2 HG01981.hp2 HG02738.hp1 HG02886.hp2 HG03225.hp2 HG03669.hp2 NA18955.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0017 a0001c0001t0023 a0001c0001t0059 a0001c0002t0003	a0001c0001t0002g0008 a0001c0001t0005g0045 a0001c0001t0006g0178 others(5): Show a0001c0001t0002g0008 a0001c0001t0005g0045 a0001c0001t0006g0178 a0001c0001t0008g0179 a0001c0001t0017g0249 a0001c0001t0023g0114 a0001c0001t0059g0115 a0001c0002t0003g0075	8	114	0.0702	31	c.101 others(52): Show c.1018+14874_1018+14875insTCACACACACACACACACACACAC ACACACA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCTCACA others(24): Show CTCTCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	107	0.0093	31	c.101 others(52): Show c.1018+14874_1018+14875insTCTCACACACACACACACACACAC ACACACA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	69	0.0145	31	c.101 others(52): Show c.1019-48646_1019-48645insAAAAAAAAAAAAATATATATATAT ATATATA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9193938	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	157	0.0064	31	c.141 others(52): Show c.1411+10975_1411+10976insAAAAAAAAAAAAAAAAAAAAAAAA CAAAAAA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTRK3_chr15_87854751_88261739	87874253	A A	AGACAGGA others(24): Show AGACAGGACAGCCAGGGCTGAAGGATGGCAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(90): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18978.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0002c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(70): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0026 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0013 a0001c0002t0023 a0001c0002t0025 a0001c0002t0028 a0001c0002t0033 a0001c0002t0035 a0001c0002t0052 a0001c0002t0061 a0001c0002t0064 a0001c0002t0066 a0001c0002t0071 a0001c0002t0072 a0001c0002t0074 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0013 a0001c0003t0017 a0001c0003t0024 a0001c0003t0031 a0001c0003t0051 a0001c0003t0060 a0001c0003t0075 a0001c0004t0001 a0001c0004t0003 a0001c0004t0007 a0001c0004t0009 a0001c0004t0019 a0001c0004t0029 a0001c0004t0032 a0001c0004t0034 a0001c0004t0058 a0001c0004t0059 a0001c0004t0067 a0001c0004t0070 a0001c0004t0078 a0001c0004t0080 a0001c0005t0007 a0001c0005t0018 a0001c0005t0022 a0001c0006t0006 a0001c0006t0010 a0001c0007t0001 a0001c0010t0003 a0002c0011t0079	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(90): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0134 a0001c0001t0005g0003 a0001c0001t0006g0080 a0001c0001t0006g0088 a0001c0001t0007g0011 a0001c0001t0009g0072 a0001c0001t0011g0091 a0001c0001t0014g0021 a0001c0001t0014g0046 a0001c0001t0020g0002 a0001c0001t0026g0061 a0001c0001t0053g0113 a0001c0001t0054g0018 a0001c0001t0055g0087 a0001c0001t0056g0094 a0001c0001t0057g0064 a0001c0001t0062g0090 a0001c0001t0063g0049 a0001c0001t0065g0013 a0001c0001t0068g0012 a0001c0001t0069g0132 a0001c0001t0073g0044 a0001c0002t0003g0036 a0001c0002t0003g0095 a0001c0002t0005g0025 a0001c0002t0005g0028 a0001c0002t0005g0034 a0001c0002t0005g0102 a0001c0002t0012g0122 a0001c0002t0013g0059 a0001c0002t0023g0026 a0001c0002t0025g0063 a0001c0002t0028g0053 a0001c0002t0033g0067 a0001c0002t0035g0127 a0001c0002t0052g0010 a0001c0002t0061g0077 a0001c0002t0064g0123 a0001c0002t0066g0065 a0001c0002t0071g0024 a0001c0002t0072g0045 a0001c0002t0074g0089 a0001c0003t0001g0076 a0001c0003t0003g0041 a0001c0003t0003g0083 a0001c0003t0006g0004 a0001c0003t0007g0017 a0001c0003t0009g0033 a0001c0003t0010g0006 a0001c0003t0011g0008 a0001c0003t0011g0116 a0001c0003t0012g0062 a0001c0003t0013g0108 a0001c0003t0017g0079 a0001c0003t0017g0118 a0001c0003t0024g0043 a0001c0003t0031g0124 a0001c0003t0051g0042 a0001c0003t0060g0048 a0001c0003t0075g0016 a0001c0004t0001g0023 a0001c0004t0001g0071 a0001c0004t0001g0114 a0001c0004t0003g0110 a0001c0004t0007g0007 a0001c0004t0009g0032 a0001c0004t0019g0014 a0001c0004t0019g0082 a0001c0004t0029g0056 a0001c0004t0032g0130 a0001c0004t0034g0097 a0001c0004t0058g0115 a0001c0004t0059g0119 a0001c0004t0067g0047 a0001c0004t0070g0070 a0001c0004t0078g0086 a0001c0004t0080g0129 a0001c0005t0007g0109 a0001c0005t0018g0038 a0001c0005t0018g0040 a0001c0005t0022g0037 a0001c0006t0006g0029 a0001c0006t0010g0111 a0001c0006t0010g0112 a0001c0007t0001g0126 a0001c0010t0003g0039 a0002c0011t0079g0005	93	132	0.7045	31	c.26 others(42): Show c.2681_*2682insCCTGCCATCCTTCAGCCCTGGCTGTCCTGTC	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	20/20	2681		chr15	TogoVar
NTS_chr12_85869295_85887992	85879036	T T	TTTTATGT others(24): Show TTTTATGTATATAAAATATATTTTTATGTATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	418	0.0024	31	c.360 others(46): Show c.360+475_360+476insTATAAAATATATTTTTATGTATATTTATGT A	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879483	A A	ATGTATAT others(24): Show ATGTATATTTTATGTATATAAAATATATTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19003.hp2 NA18612.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0002g0107 a0001c0001t0001g0099 a0001c0001t0002g0107	2	121	0.0165	31	c.360 others(47): Show c.360+995_360+1025dupAAAATATATTTTTTGTATATTTTATGTAT AT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879629	A A	ATGTATAT others(24): Show ATGTATATTTTATGTATATAAAATATATTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01978.hp1 HG02615.hp2 others(6): Show HG01175.hp2 HG01978.hp1 HG02615.hp2 HG02965.hp1 HG03516.hp1 NA18941.hp1 NA19043.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0040 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0121 a0001c0001t0001g0123 a0002c0003t0001g0017	9	328	0.0274	31	c.360 others(48): Show c.360+1164_360+1194dupATGTATATAAAATATATTTTTTGTATAT TTT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879687	T T	TTTTTTGT others(24): Show TTTTTTGTATATTTTATGTATATAAAATATAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	416	0.0024	31	c.360 others(48): Show c.360+1148_360+1149insCTTTTTGTATATTTTATGTATATAAAAT ATA	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NTS_chr12_85869295_85887992	85879718	T T	TTTTTTGT others(24): Show TTTTTTGTATATTTTATGTATATAAAATATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG00733.hp2 others(26): Show HG00423.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02071.hp2 HG02148.hp1 HG03017.hp2 HG03831.hp2 HG03834.hp1 NA18968.hp2 NA18992.hp1 NA19030.hp1 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0160	29	388	0.0747	31	c.360 others(48): Show c.360+1179_360+1180insCTTTTTGTATATTTTATGTATATAAAAT ATA	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUCB2_chr11_17271739_17337211	17333627	T T	TGGTGGGG others(24): Show TGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0097 a0003c0003t0001g0097	1	358	0.0028	31	c.22 others(42): Show c.2208_*2209insGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding		1417		chr11	TogoVar
NUDT14_chr14_105167939_105186312	105178878	G G	GTCTGAGC others(24): Show GTCTGAGCGTCCCGGCGCAAGGTCTGGAGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	396	0.0025	31	c.82- others(46): Show c.82-1144_82-1143insGGCCTCCAGACCTTGCGCCGGGACGCTCAG A	NUDT14	ENSG00000183828.15	transcript	ENST00000392568.7	protein_coding	1/4			chr14	TogoVar
NUDT17_chr1_145840630_145853954	145842809	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03195.hp2 NA19030.hp2 HG03130.hp1 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0003g0004 a0001c0001t0001g0004 a0001c0001t0003g0004	3	387	0.0078	31	c.-28 others(42): Show c.-2832_-2831insGATAGATAGATAGATAGATAGATAGATAGAT	NUDT17	ENSG00000186364.12	transcript	ENST00000334513.6	protein_coding		2820		chr1	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	50	0.0200	31	c.88 others(40): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT2_chr9_34324569_34348699	34338327	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	29	0.0345	31	c.-15 others(48): Show c.-151-356_-151-355insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUMA1_chr11_71997864_72085542	72011685	T T	TGCTCTAT others(24): Show TGCTCTATAGCCTCGATGTCTCAGAAACACCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	242	0.0041	31	c.465 others(48): Show c.4650+685_4650+715dupTGGTGTTTCTGAGACATCGAGGCTATAG AGC	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	16/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72049560	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0177 a0006c0011t0001g0177	1	72	0.0139	31	c.-32 others(50): Show c.-32-13586_-32-13585insATATATATATATATATATATATATAT ATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUP133_chr1_229435259_229513341	229449873	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0132 a0003c0003t0004g0132	1	198	0.0051	31	c.318 others(48): Show c.3180+651_3180+652insAAAAATATATATATATATATATATATAT ATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	23/25			chr1	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18991.hp1 HG02165.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0170 a0001c0001t0010g0118 a0001c0001t0001g0170 a0001c0001t0010g0118	2	129	0.0155	31	c.393 others(48): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(24): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG00735.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0071 a0001c0001t0002g0072	2	256	0.0078	31	c.38 others(42): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	174	0.0057	31	c.196 others(48): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135570892	T T	TTATATAT others(24): Show TTATATATTTATATGTAATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0175 a0001c0008t0001g0175	1	350	0.0029	31	c.29- others(44): Show c.29-200_29-199insGTAATATATTATATATTATATATATTTATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP35_chr2_183119443_183166680	183138270	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	396	0.0025	31	c.397 others(48): Show c.397+4647_397+4648insATATATATATATATATATATATATATAT ATA	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8			chr2	TogoVar

Search by Variant

Search

Search Results