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
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0001 a0011c0034t0001	a0011c0034t0001g0122 a0011c0034t0001g0122	1	342	0.0029	24	c.173 others(43): Show c.1730+1652_1730+1675dupTTTTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535503	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 NA18951.hp2 NA18970.hp2 HG02071.hp1 NA18951.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0167 a0001c0001t0206 a0001c0001t0144 a0001c0001t0167 a0001c0001t0206	a0001c0001t0144g0106 a0001c0001t0167g0196 a0001c0001t0206g0228 a0001c0001t0144g0106 a0001c0001t0167g0196 a0001c0001t0206g0228	3	368	0.0082	24	c.21 others(35): Show c.2156_*2179dupGAAAGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2515		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535536	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCTTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0192 a0001c0001t0192	a0001c0001t0192g0216 a0001c0001t0192g0216	1	368	0.0027	24	c.21 others(35): Show c.2146_*2147insGGAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2482		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535543	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTCTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0204 a0001c0001t0204	a0001c0001t0204g0226 a0001c0001t0204g0226	1	368	0.0027	24	c.21 others(35): Show c.2139_*2140insAAGAGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2475		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535548	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCTTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02132.hp2 HG02293.hp1 HG02004.hp2 HG02132.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0016 a0001c0001t0019g0016	3	368	0.0082	24	c.21 others(35): Show c.2134_*2135insGGAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2470		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535552	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0188 a0001c0001t0188	a0001c0001t0188g0212 a0001c0001t0188g0212	1	368	0.0027	24	c.21 others(35): Show c.2130_*2131insGGAAGGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2466		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535552	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCTTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0179	a0001c0001t0179g0113 a0001c0001t0179g0113	1	368	0.0027	24	c.21 others(35): Show c.2130_*2131insGGAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2466		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535560	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0259 a0001c0001t0259	a0001c0001t0259g0128 a0001c0001t0259g0128	1	368	0.0027	24	c.21 others(35): Show c.2122_*2123insGGAAGGAAGGAAGGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2458		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCCTTCCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0151	a0001c0001t0151g0181 a0001c0001t0151g0181	1	368	0.0027	24	c.21 others(35): Show c.2115_*2116insAAAGGAAGGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG02300.hp1 NA18612.hp1 others(4): Show HG01346.hp1 HG02300.hp1 NA18612.hp1 NA18967.hp1 NA18987.hp1 NA19067.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	7	368	0.0190	24	c.21 others(35): Show c.2115_*2116insAAAGAAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0141 a0001c0001t0063g0141	1	368	0.0027	24	c.21 others(35): Show c.2111_*2112insAAAGGAAGGAAGGAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0158 a0001c0001t0158	a0001c0001t0158g0188 a0001c0001t0158g0188	1	368	0.0027	24	c.21 others(35): Show c.2111_*2112insAAAGAAAGGAAGGAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0126	a0001c0001t0126g0167 a0001c0001t0126g0167	1	368	0.0027	24	c.21 others(35): Show c.2111_*2112insAAAGAAAGAAAGAAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0064 a0001c0001t0066g0064	1	368	0.0027	24	c.21 others(35): Show c.2111_*2112insAAAGAAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02258.hp2 HG02300.hp1 others(6): Show HG02056.hp1 HG02258.hp2 HG02300.hp1 NA18965.hp1 NA18982.hp2 NA18990.hp1 NA19011.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0001g0009 a0001c0001t0001g0052	9	448	0.0201	24	c.6+ others(37): Show c.6+389_*6+390insTATATATATATATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUTF2_chr16_67841933_67877567	67842923	G G	GCAGCAGC others(17): Show GCAGCAGCAGCAGCAGCAGCAGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	248	0.0040	24	c.-40 others(35): Show c.-4092_-4091insCAGCAGCAGCAGCAGCAGCAGCAA	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		4009		chr16	TogoVar
NUTM2E_chr10_79821739_79855878	79826383	G G	GGGCGGCG others(17): Show GGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02258.hp2 HG03041.hp2 HG02135.hp1 HG02258.hp2 HG03041.hp2	a0003 a0005 a0035 a0003 a0005 a0035	a0003c0004 a0005c0008 a0035c0056 a0003c0004 a0005c0008 a0035c0056	a0003c0004t0002 a0005c0008t0002 a0035c0056t0002 a0003c0004t0002 a0005c0008t0002 a0035c0056t0002	a0003c0004t0002g0004 a0005c0008t0002g0124 a0035c0056t0002g0004 a0003c0004t0002g0004 a0005c0008t0002g0124 a0035c0056t0002g0004	3	412	0.0073	24	c.-37 others(35): Show c.-3702_-3701insGGCGGCGGCGGCGGCGGCGGCGGC	NUTM2E	ENSG00000228570.8	transcript	ENST00000429984.5	protein_coding		355		chr10	TogoVar
NUTM2F_chr9_94313198_94333644	94313389	T T	TATATATT others(17): Show TATATATTATATTTTATATAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG04228.hp1 HG01346.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	322	0.0062	24	c.50 others(35): Show c.5075_*5076insTATATTATATAAAATATAATATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4808		chr9	TogoVar
NWD1_chr19_16714847_16822953	16736209	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02572.hp1 others(7): Show HG02258.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03453.hp1 NA19030.hp1	a0004 a0014 a0004 a0014	a0004c0005 a0004c0009 a0014c0025 a0004c0005 a0004c0009 a0014c0025	a0004c0005t0006 a0004c0005t0022 a0004c0009t0005 others(1): Show a0004c0005t0006 a0004c0005t0022 a0004c0009t0005 a0014c0025t0002	a0004c0005t0006g0226 a0004c0005t0006g0227 a0004c0005t0006g0228 others(7): Show a0004c0005t0006g0226 a0004c0005t0006g0227 a0004c0005t0006g0228 a0004c0005t0006g0229 a0004c0005t0006g0230 a0004c0005t0022g0050 a0004c0009t0005g0140 a0004c0009t0005g0224 a0014c0025t0002g0048 a0014c0025t0002g0049	10	300	0.0333	24	c.82- others(37): Show c.82-408_82-407insTCCTTCCTTCCTTCCTTCCTTCCT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXF1_chr11_62787130_62810440	62792186	T T	TATATTAA others(17): Show TATATTAAAAAGTAAGGAGGTCCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	406	0.0025	24	c.26 others(33): Show c.266_*289dupCAGGACCTCCTTACTTTTTAATAT	NXF1	ENSG00000162231.14	transcript	ENST00000294172.7	protein_coding	21/21	289		chr11	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG01167.hp2 others(17): Show HG00408.hp2 HG00544.hp1 HG01167.hp2 HG01978.hp1 HG02165.hp1 HG03704.hp2 NA18942.hp1 NA18962.hp2 NA18971.hp1 NA18972.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19060.hp1 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0043	20	408	0.0490	24	c.48 others(35): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAAAAA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4627		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TAATATAT others(17): Show TAATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03654.hp1 HG04204.hp2 others(3): Show HG02615.hp2 HG03654.hp1 HG04204.hp2 NA18992.hp2 NA19010.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0089 a0001c0001t0001g0003 a0001c0001t0001g0089	6	408	0.0147	24	c.25 others(35): Show c.2557_*2558insTATATATATATATATATATATATT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0024 a0001c0006t0001g0024	1	408	0.0025	24	c.25 others(35): Show c.2531_*2532insAAAATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	408	0.0025	24	c.25 others(35): Show c.2531_*2532insAAAAAAAAAAAATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17456307	C C	CAAATAAA others(17): Show CAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	408	0.0025	24	c.327 others(39): Show c.327-372_327-349dupATTTATTTATTTATTTATTTATTT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding	1/1			chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463783	A A	AAGAAGGA others(17): Show AAGAAGGAGAAGGAGAAGGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 NA18612.hp2 HG03490.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	408	0.0049	24	c.-29 others(35): Show c.-2915_-2914insCCTTCTCCTTCTCCTTCTCCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2858		chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG02027.hp2 others(12): Show HG00597.hp2 HG00609.hp2 HG02027.hp2 HG02056.hp1 HG02145.hp1 HG02886.hp1 HG02965.hp1 HG03486.hp1 HG03516.hp1 NA18952.hp2 NA18983.hp2 NA18999.hp2 NA19007.hp1 NA19066.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0023 a0001c0001t0025	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0002g0026 others(12): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0072 a0001c0001t0002g0088 a0001c0001t0002g0149 a0001c0001t0002g0169 a0001c0001t0003g0065 a0001c0001t0003g0084 a0001c0001t0003g0198 a0001c0001t0005g0209 a0001c0001t0011g0013 a0001c0001t0023g0052 a0001c0001t0025g0200	15	242	0.0620	24	c.361 others(43): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	884223	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01257.hp2 others(16): Show HG01070.hp2 HG01081.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG01891.hp2 HG02132.hp2 HG02738.hp2 HG02965.hp2 HG03041.hp2 HG03491.hp1 HG03704.hp2 HG03927.hp2 HG04204.hp1 NA18906.hp2 NA18983.hp1 NA19030.hp2 NA19043.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0004t0002 a0002c0005t0009	a0001c0001t0001g0118 a0001c0001t0001g0177 a0001c0001t0001g0195 others(16): Show a0001c0001t0001g0118 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0231 a0001c0001t0002g0056 a0001c0001t0002g0082 a0001c0001t0003g0085 a0001c0001t0003g0165 a0001c0001t0003g0175 a0001c0001t0003g0205 a0001c0001t0004g0041 a0001c0001t0004g0152 a0001c0001t0005g0132 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0172 a0001c0001t0012g0066 a0001c0004t0002g0232 a0002c0005t0009g0199	19	242	0.0785	24	c.361 others(43): Show c.361-58169_361-58146dupATTTATTTATTTATTTATTTATTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983602	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 NA18906.hp2 HG02258.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0230 a0001c0001t0001g0231	2	242	0.0083	24	c.-39 others(35): Show c.-3925_-3924insTATATATATATATATATATATATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3827		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(17): Show TATATATACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0174 a0001c0001t0011g0174	1	242	0.0041	24	c.-39 others(35): Show c.-3934_-3933insGTGTGTGTGTGTGTGTGTATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(17): Show TATATATATACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02922.hp1 HG03130.hp1 others(1): Show HG02109.hp2 HG02922.hp1 HG03130.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0003t0001	a0001c0001t0001g0076 a0001c0001t0003g0044 a0001c0001t0026g0173 others(1): Show a0001c0001t0001g0076 a0001c0001t0003g0044 a0001c0001t0026g0173 a0001c0003t0001g0042	4	242	0.0165	24	c.-39 others(35): Show c.-3934_-3933insGTGTGTGTGTGTGTGTATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(17): Show TATATATATATACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01257.hp2 HG01258.hp2 others(7): Show HG01106.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG02135.hp1 HG02145.hp1 HG03704.hp2 NA18964.hp1 NA19070.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0002g0056 others(7): Show a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0002g0056 a0001c0001t0003g0058 a0001c0001t0003g0065 a0001c0001t0003g0078 a0001c0001t0005g0048 a0001c0001t0005g0054 a0001c0001t0006g0099 a0001c0001t0006g0100	10	242	0.0413	24	c.-39 others(35): Show c.-3934_-3933insGTGTGTGTGTGTGTATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXPE3_chr3_101774211_101833231	101808818	G G	GATATAGA others(17): Show GATATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	380	0.0026	24	c.922 others(41): Show c.922+1697_922+1698insGATATATATATATATATATATATA	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE3_chr3_101774211_101833231	101808854	T T	TATATATA others(17): Show TATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02970.hp2 others(1): Show HG02145.hp1 HG02451.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0054 a0001c0001t0010 a0001c0001t0013 a0001c0001t0054	a0001c0001t0010g0278 a0001c0001t0013g0016 a0001c0001t0013g0019 others(1): Show a0001c0001t0010g0278 a0001c0001t0013g0016 a0001c0001t0013g0019 a0001c0001t0054g0280	4	380	0.0105	24	c.922 others(41): Show c.922+1730_922+1731insATATATACACATATATATATACAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE3_chr3_101774211_101833231	101808854	T T	TATATATA others(17): Show TATATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG06807.hp2 NA18522.hp1 others(1): Show HG00280.hp2 HG06807.hp2 NA18522.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0244 a0001c0001t0002g0335 a0001c0001t0002g0014 a0001c0001t0002g0244 a0001c0001t0002g0335	4	380	0.0105	24	c.922 others(41): Show c.922+1730_922+1731insATATATATACATATATATATACAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPE4_chr11_114565591_114600786	114577060	T T	TATATATA others(17): Show TATATATATAAAGTTATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0079 a0003c0003t0001g0079	1	432	0.0023	24	c.109 others(43): Show c.1099+3071_1099+3072insGTATATATATAACTTTATATATAT	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	5/5			chr11	TogoVar
NXPH1_chr7_8428609_8757961	8461843	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	208	0.0048	24	c.54+ others(41): Show c.54+26084_54+26085insAAAAAAAAAAAAAAAGAAAAAAAA	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8678928	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20129.hp1 HG00741.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0208 a0001c0001t0004g0069 a0001c0001t0001g0208 a0001c0001t0004g0069	2	208	0.0096	24	c.55- others(41): Show c.55-72068_55-72045dupTTTTTTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19057.hp2 NA19000.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0147 a0001c0002t0001g0043 a0001c0002t0001g0147	2	350	0.0057	24	c.52- others(41): Show c.52-35430_52-35429insTTTTTTTTTTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG04199.hp2 HG00639.hp2 HG01884.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0002t0023 a0001c0004t0002 a0001c0002t0004 a0001c0002t0023 a0001c0004t0002	a0001c0002t0004g0042 a0001c0002t0023g0189 a0001c0004t0002g0161 a0001c0002t0004g0042 a0001c0002t0023g0189 a0001c0004t0002g0161	3	192	0.0156	24	c.161 others(43): Show c.1618+6484_1618+6507dupATATATATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18975.hp2 NA19004.hp2 NA18942.hp1 NA18975.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0005 a0001c0002t0001 a0001c0007t0005	a0001c0002t0001g0108 a0001c0007t0005g0152 a0001c0007t0005g0153 a0001c0002t0001g0108 a0001c0007t0005g0152 a0001c0007t0005g0153	3	192	0.0156	24	c.161 others(45): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225612796	G G	GGACATCA others(17): Show GGACATCACACCCAATGGGTGTGAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	192	0.0052	24	c.161 others(45): Show c.1619-14105_1619-14104insGGTGTGATGACATCACACCCAATG	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225612796	G G	GGACATCA others(17): Show GGACATCACACCCAATGTGTGTGAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02258.hp2 HG02523.hp2 others(6): Show HG02056.hp2 HG02258.hp2 HG02523.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03453.hp2 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0016	a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0001 a0001c0002t0033 a0001c0004t0002 a0001c0004t0025 a0003c0016t0030	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0021g0171 others(6): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0021g0171 a0001c0001t0021g0172 a0001c0002t0001g0081 a0001c0002t0033g0184 a0001c0004t0002g0145 a0001c0004t0025g0141 a0003c0016t0030g0003	9	192	0.0469	24	c.161 others(45): Show c.1619-14087_1619-14064dupCCCAATGTGTGTGATGACATCACA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225622518	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0045 a0001c0006t0020g0045	1	192	0.0052	24	c.161 others(43): Show c.1619-4380_1619-4357dupCTTTCTTTCTTTCTTTCTTTCTTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225655907	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG03471.hp2 HG02922.hp2 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0018 a0001c0001t0014 a0001c0001t0018	a0001c0001t0014g0022 a0001c0001t0018g0116 a0001c0001t0018g0117 a0001c0001t0014g0022 a0001c0001t0018g0116 a0001c0001t0018g0117	3	192	0.0156	24	c.193 others(43): Show c.1932+4393_1932+4394insCATACACACACACACACACACACA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OAT_chr10_124392303_124423923	124402048	G G	GTTATTTA others(17): Show GTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03139.hp2 NA19240.hp1 others(1): Show HG02451.hp2 HG03139.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0182	4	382	0.0105	24	c.901 others(39): Show c.901-210_901-209insATAAATAAATAAATAAATAAATAA	OAT	ENSG00000065154.12	transcript	ENST00000368845.6	protein_coding	7/9			chr10	TogoVar
OBI1_chr13_78609289_78664155	78628750	G G	GGACAAAA others(17): Show GGACAAAATGGAAGAAGGGAAATTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	296	0.0034	24	c.638 others(41): Show c.638+6336_638+6359dupAAATTTCCCTTCTTCCATTTTGTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding	5/5			chr13	TogoVar
OBP2A_chr9_135541126_135554969	135544761	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0129 a0004c0004t0001g0129	1	455	0.0022	24	c.-14 others(35): Show c.-1420_-1419insAAAAAAAAAAAAAAAAAAAAAAAA	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding		1364		chr9	TogoVar
OBSCN_chr1_228203044_228383876	228258383	G G	GCAACAAC others(17): Show GCAACAACAACAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02055.hp1 HG02074.hp2 others(3): Show HG00673.hp1 HG02055.hp1 HG02074.hp2 HG02280.hp2 NA19066.hp1 NA19091.hp2	a0024 a0093 a0126 others(1): Show a0024 a0093 a0126 a0130	a0024c0037 a0024c0154 a0093c0153 others(2): Show a0024c0037 a0024c0154 a0093c0153 a0126c0072 a0130c0073	a0024c0037t0001 a0024c0154t0001 a0093c0153t0001 others(2): Show a0024c0037t0001 a0024c0154t0001 a0093c0153t0001 a0126c0072t0003 a0130c0073t0003	a0024c0037t0001g0013 a0024c0037t0001g0014 a0024c0154t0001g0016 others(3): Show a0024c0037t0001g0013 a0024c0037t0001g0014 a0024c0154t0001g0016 a0093c0153t0001g0015 a0126c0072t0003g0287 a0130c0073t0003g0288	6	320	0.0188	24	c.486 others(43): Show c.4862-1097_4862-1096insCAACAACAACAACAACAACAACAA	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	16/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
OBSCN_chr1_228203044_228383876	228331407	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	320	0.0031	24	c.185 others(45): Show c.18524-1427_18524-1404dupTATATATATATATATATATATATA	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	67/115		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results