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
NWD2_chr4_37239743_37454463	37348675	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0199 a0001c0005t0002g0199	1	296	0.0034	22	c.241 others(39): Show c.241-7690_241-7689insTATATATATATATATATATACA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37364691	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	296	0.0034	22	c.357 others(39): Show c.357+8222_357+8243dupACACACACACACACACACACAC	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	408	0.0025	22	c.48 others(33): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAAA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4627		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TAATATAT others(15): Show TAATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02040.hp2 HG02148.hp2 others(4): Show HG01496.hp1 HG02040.hp2 HG02148.hp2 HG02622.hp1 HG02809.hp2 NA18984.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0070	7	408	0.0172	22	c.25 others(33): Show c.2557_*2558insTATATATATATATATATATATT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0111 a0003c0003t0006g0111	1	408	0.0025	22	c.25 others(33): Show c.2557_*2558insTATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0008 a0003c0003t0003g0008	1	408	0.0025	22	c.25 others(33): Show c.2531_*2532insAATATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	408	0.0025	22	c.25 others(33): Show c.2531_*2532insAAAAAAAAAATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	408	0.0025	22	c.25 others(33): Show c.2531_*2532insAAAAAAAAAAAATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG03098.hp2 others(4): Show HG00323.hp1 HG00741.hp1 HG03098.hp2 HG03579.hp1 HG04204.hp2 NA18983.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0002t0032 a0001c0003t0008 a0001c0011t0004	a0001c0001t0001g0086 a0001c0001t0004g0152 a0001c0001t0006g0202 others(4): Show a0001c0001t0001g0086 a0001c0001t0004g0152 a0001c0001t0006g0202 a0001c0001t0011g0174 a0001c0002t0032g0242 a0001c0003t0008g0022 a0001c0011t0004g0234	7	242	0.0289	22	c.361 others(41): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	979827	C C	CGCCACGC others(15): Show CGCCACGCCCCTTCCCCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	242	0.0041	22	c.-15 others(31): Show c.-150_-149insAGGGCGGGGGAAGGGGCGTGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		52		chr17	TogoVar
NXN_chr17_794310_984776	983602	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03579.hp2 HG01884.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0016 a0001c0002t0004g0228 a0001c0002t0004g0016 a0001c0002t0004g0228	2	242	0.0083	22	c.-39 others(33): Show c.-3925_-3924insTATATATATATATATATATATA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3827		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(15): Show TATATATACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG01884.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0175 a0001c0001t0003g0027 a0001c0001t0003g0175	2	242	0.0083	22	c.-39 others(33): Show c.-3934_-3933insGTGTGTGTGTGTGTGTATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(15): Show TATATATATACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG03486.hp2 others(2): Show HG01891.hp2 HG02451.hp1 HG03486.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0003t0008	a0001c0001t0001g0045 a0001c0001t0001g0075 a0001c0001t0004g0041 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0075 a0001c0001t0004g0041 a0001c0002t0004g0043 a0001c0003t0008g0022	5	242	0.0207	22	c.-39 others(33): Show c.-3934_-3933insGTGTGTGTGTGTGTATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(15): Show TATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01978.hp1 others(6): Show HG01167.hp2 HG01169.hp2 HG01978.hp1 HG02273.hp1 HG02735.hp1 HG03669.hp2 NA18747.hp2 NA19030.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0051 a0001c0001t0001g0125 a0001c0001t0002g0050 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0125 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0130 a0001c0001t0005g0055 a0001c0001t0012g0066	9	242	0.0372	22	c.-39 others(33): Show c.-3934_-3933insGTGTGTGTGTGTATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXPE2_chr11_114673527_114712069	114695830	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG03209.hp2 others(2): Show HG02451.hp2 HG02717.hp2 HG03209.hp2 HG03516.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0083 a0002c0002t0001g0218 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0083 a0002c0002t0001g0218 a0002c0002t0001g0220	5	428	0.0117	22	c.133 others(39): Show c.133-2199_133-2178dupCACACACACACACACACACACA	NXPE2	ENSG00000204361.10	transcript	ENST00000389586.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXPE3_chr3_101774211_101833231	101808854	T T	TATATATA others(15): Show TATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01943.hp1 HG02809.hp2 others(1): Show HG01257.hp1 HG01943.hp1 HG02809.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 others(1): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0050	a0001c0001t0010g0276 a0001c0001t0013g0018 a0001c0001t0021g0327 others(1): Show a0001c0001t0010g0276 a0001c0001t0013g0018 a0001c0001t0021g0327 a0001c0001t0050g0271	4	380	0.0105	22	c.922 others(39): Show c.922+1730_922+1731insATATACACATATATATATACAT	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(15): Show TATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG01496.hp1 others(14): Show HG00735.hp1 HG01192.hp2 HG01496.hp1 HG02109.hp2 HG02135.hp2 HG02717.hp2 HG02895.hp2 HG03669.hp1 NA18612.hp1 NA18944.hp2 NA18954.hp1 NA18964.hp1 NA18965.hp2 NA18972.hp2 NA19010.hp1 NA19070.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0011 a0001c0001t0032 others(3): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0032 a0001c0001t0038 a0001c0002t0002 a0002c0003t0012	a0001c0001t0002g0240 a0001c0001t0002g0294 a0001c0001t0002g0307 others(13): Show a0001c0001t0002g0240 a0001c0001t0002g0294 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0324 a0001c0001t0002g0350 a0001c0001t0002g0356 a0001c0001t0011g0344 a0001c0001t0032g0295 a0001c0001t0038g0273 a0001c0002t0002g0013 a0001c0002t0002g0306 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0343 a0002c0003t0012g0215	17	380	0.0447	22	c.922 others(39): Show c.922+1730_922+1731insATATATACATATATATATACAT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
NXPH1_chr7_8428609_8757961	8621490	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01346.hp1 HG01975.hp2 others(6): Show HG00621.hp2 HG01346.hp1 HG01975.hp2 HG01978.hp2 HG02027.hp2 HG02293.hp2 NA18961.hp1 NA18989.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0059 others(6): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0176 a0001c0001t0002g0196 a0001c0001t0003g0033 a0001c0001t0007g0193 a0001c0001t0011g0002	9	208	0.0433	22	c.55- others(41): Show c.55-129504_55-129503insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0175 a0001c0001t0001g0057 a0001c0001t0001g0175	2	208	0.0096	22	c.55- others(39): Show c.55-72066_55-72045dupTTTTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8756316	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03195.hp2 HG02630.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0143 a0001c0001t0019g0127 a0001c0001t0003g0143 a0001c0001t0019g0127	2	208	0.0096	22	c.45 others(33): Show c.4547_*4548insTTTTTTTTTTTTTTTTTTTTTT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding		3356		chr7	TogoVar
NXPH2_chr2_138664157_138785390	138707094	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(54): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01981.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02602.hp1 HG02735.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp2 NA18970.hp1 NA18980.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0009	a0001c0001t0001g0166 a0001c0001t0003g0023 a0001c0001t0003g0027 others(53): Show a0001c0001t0001g0166 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0044 a0001c0001t0003g0052 a0001c0001t0003g0063 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0083 a0001c0001t0003g0094 a0001c0001t0003g0104 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0184 a0001c0001t0003g0221 a0001c0001t0003g0243 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0285 a0001c0001t0003g0289 a0001c0001t0006g0002 a0001c0001t0007g0259 a0001c0001t0007g0326 a0001c0002t0001g0013 a0001c0002t0001g0032 a0001c0002t0001g0050 a0001c0002t0001g0067 a0001c0002t0001g0078 a0001c0002t0001g0092 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0144 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0182 a0001c0002t0001g0190 a0001c0002t0001g0211 a0001c0002t0001g0224 a0001c0002t0001g0235 a0001c0002t0001g0241 a0001c0002t0001g0245 a0001c0002t0001g0251 a0001c0002t0001g0267 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0288 a0001c0002t0001g0297 a0001c0002t0009g0045	57	350	0.1629	22	c.52- others(39): Show c.52-35430_52-35429insTTTTTTTTTTTTTTTTTTTTTT	NXPH2	ENSG00000144227.5	transcript	ENST00000272641.4	protein_coding	1/1			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225446216	G G	GTCTGTCT others(15): Show GTCTGTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0074 a0002c0004t0006g0074	1	192	0.0052	22	c.221 others(41): Show c.221+37118_221+37119insGTCTCTCTCTCTCTCTCTCTCT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225446246	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	192	0.0052	22	c.221 others(41): Show c.221+37146_221+37147insCTCTCTCTATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225538785	T T	TTCTTTTC others(15): Show TTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	192	0.0052	22	c.523 others(41): Show c.523+25113_523+25114insTCTTTTCTTTTCTTTTCTTTTC	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	4/7			chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0151 a0001c0005t0002g0151	1	192	0.0052	22	c.161 others(41): Show c.1618+6482_1618+6483insAATATATATATATATATATATA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03239.hp2 NA20129.hp1 HG01169.hp2 HG03239.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0038 a0001c0002t0001g0104 a0001c0002t0008g0182 a0001c0001t0001g0038 a0001c0002t0001g0104 a0001c0002t0008g0182	3	192	0.0156	22	c.161 others(41): Show c.1618+6486_1618+6507dupATATATATATATATATATATAT	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(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03654.hp1 HG03540.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0056 a0001c0003t0002g0160 a0001c0001t0003g0056 a0001c0003t0002g0160	2	192	0.0104	22	c.161 others(43): Show c.1618+14495_1618+14496insATATATATATATATATATATAT	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(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp2 HG02258.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0171 a0001c0001t0021g0172 a0001c0001t0021g0171 a0001c0001t0021g0172	2	192	0.0104	22	c.193 others(41): Show c.1932+4380_1932+4401dupCACACACACACACATACACACA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0065 a0001c0004t0001g0065	1	110	0.0091	22	c.243 others(43): Show c.2432+20356_2432+20357insTATATATATATAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG06807.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0016 a0001c0014t0001g0002 a0001c0001t0001g0016 a0001c0014t0001g0002	2	110	0.0182	22	c.243 others(43): Show c.2432+20356_2432+20357insTATATATATAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCSTAMP_chr20_46535946_46555654	46549806	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02735.hp2 HG03017.hp1 others(7): Show HG01361.hp1 HG02735.hp2 HG03017.hp1 HG03490.hp1 HG03669.hp2 HG04115.hp2 NA18959.hp1 NA19065.hp2 NA19070.hp1 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0018 a0001c0001 a0001c0002 a0011c0018	a0001c0001t0001 a0001c0002t0004 a0011c0018t0002 a0001c0001t0001 a0001c0002t0004 a0011c0018t0002	a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0002t0004g0160 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0002t0004g0160 a0011c0018t0002g0159	10	442	0.0226	22	c.44+ others(35): Show c.44+710_44+711insCACACACACACACACACACACA	OCSTAMP	ENSG00000149635.3	transcript	ENST00000279028.3	protein_coding	1/2			chr20	TogoVar
ODAD2_chr10_27807168_28004079	27827379	C C	CACTATAT others(15): Show CACTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0200 a0001c0010t0001g0202 a0001c0010t0001g0200 a0001c0010t0001g0202	2	304	0.0066	22	c.302 others(43): Show c.3022-14755_3022-14754insTATATATATATATATATATAGT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	19/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27882173	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	304	0.0033	22	c.261 others(43): Show c.2611-19552_2611-19551insCTTTCTTTCTTTCTTTCTTTCT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	17/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27924008	A A	AAGAAGAA others(15): Show AAGAAGAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0187 a0002c0003t0002g0187	1	304	0.0033	22	c.249 others(43): Show c.2495+11001_2495+11002insCTCTTTCTTTCTTTCTTCTTCT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD2_chr10_27807168_28004079	27924013	A A	AGAAAGAA others(15): Show AGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0049 a0005c0005t0002g0049	1	304	0.0033	22	c.249 others(43): Show c.2495+10996_2495+10997insCCTTTCTTTCTTTCTTTCTTTC	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD3_chr19_11415605_11440121	11425223	G G	GTACATAT others(15): Show GTACATATGTGTATATGTACATA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	398	0.0025	22	c.963 others(37): Show c.963+920_963+921insTATGTACATATACACATATGTA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11425296	T T	TATATACC others(15): Show TATATACCTGTGTATATATGTAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp2 HG02486.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0022 a0001c0001t0002g0023	2	398	0.0050	22	c.963 others(37): Show c.963+847_963+848insGTACATATATACACAGGTATAT	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF2L_chr1_86341837_86401323	86400628	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG01255.hp2 others(10): Show HG00738.hp1 HG01071.hp1 HG01255.hp2 HG02071.hp2 HG02523.hp2 HG03130.hp2 HG03239.hp1 NA18950.hp2 NA18980.hp1 NA18999.hp2 NA19079.hp2 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0034 others(10): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0081 a0001c0001t0002g0091 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0117 a0001c0001t0002g0128 a0001c0001t0005g0092 a0001c0001t0005g0100 a0001c0001t0005g0132 a0001c0001t0007g0026	13	406	0.0320	22	c.-46 others(33): Show c.-4656_-4655insATATATATATATATATATATAT	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding		4306		chr1	TogoVar
ODF2_chr9_128451006_128506292	128470016	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03834.hp2 HG00735.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0291 a0001c0001t0001g0143 a0001c0001t0001g0291	2	346	0.0058	22	c.669 others(37): Show c.669+664_669+665insTATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19078.hp2 NA18999.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0009 a0001c0001t0002g0026	2	346	0.0058	22	c.669 others(37): Show c.669+666_669+667insAATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470018	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01346.hp2 HG02135.hp2 others(4): Show HG00438.hp2 HG01346.hp2 HG02135.hp2 HG03492.hp1 NA18983.hp1 NA18995.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0215 a0001c0001t0001g0283 a0001c0001t0001g0284 others(4): Show a0001c0001t0001g0215 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0002g0014 a0001c0001t0002g0073 a0001c0001t0002g0120	7	346	0.0202	22	c.669 others(37): Show c.669+673_669+694dupTATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128470044	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	346	0.0029	22	c.669 others(37): Show c.669+694_669+695insTATATATATATATATATAAATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497444	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	346	0.0029	22	c.226 others(39): Show c.2262-968_2262-967insTATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	346	0.0029	22	c.226 others(39): Show c.2262-966_2262-965insAAAAAAAATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
OFD1_chrX_13729748_13774357	13755946	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0148 a0001c0004t0001g0148	1	327	0.0031	22	c.122 others(39): Show c.1222-631_1222-610dupTTTTTTTTTTTTTTTTTTTTTT	OFD1	ENSG00000046651.16	transcript	ENST00000340096.11	protein_coding	12/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
OGDHL_chr10_49729641_49767323	49748742	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0191 a0001c0005t0003g0191	1	316	0.0032	22	c.987 others(37): Show c.987+962_987+983dupTGTGTGTGTGTGTGTGTGTGTG	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	8/22			chr10	TogoVar
OGDH_chr7_44601627_44714066	44669145	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20752.hp2 HG03130.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0032 a0002c0003t0001g0099 a0001c0002t0001g0032 a0002c0003t0001g0099	2	306	0.0065	22	c.633 others(39): Show c.633+2298_633+2319dupTTTTTTTTTTTTTTTTTTTTTT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGDH_chr7_44601627_44714066	44705051	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02004.hp2 HG02523.hp2 others(1): Show HG01261.hp2 HG02004.hp2 HG02523.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0143 a0001c0002t0001g0150 others(1): Show a0001c0002t0001g0133 a0001c0002t0001g0143 a0001c0002t0001g0150 a0001c0002t0001g0165	4	306	0.0131	22	c.263 others(41): Show c.2633-2155_2633-2154insTTTTTTTTTTTTTTTTTTTTTT	OGDH	ENSG00000105953.16	transcript	ENST00000222673.6	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
OGFOD1_chr16_56446554_56484104	56480350	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	430	0.0023	22	c.41 others(33): Show c.4145_*4146insAAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1247		chr16	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACAAAAA others(15): Show CACAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02647.hp1 HG01109.hp2 HG02145.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0014g0036 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0014g0036	3	430	0.0070	22	c.41 others(33): Show c.4147_*4148insACAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar

Search by Variant

Search

Search Results