Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NPFFR2_chr4_72027000_72153305	72070554	T T	TGGGGGGG others(10): Show TGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	344	0.0029	17	c.-8+ others(34): Show c.-8+38355_-8+38356insGGGGGGGGGGGGGGGGG	NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPFFR2_chr4_72027000_72153305	72070561	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp2 HG02132.hp1 others(9): Show HG01433.hp1 HG01891.hp2 HG02132.hp1 HG02723.hp1 HG02922.hp1 HG02976.hp2 HG03453.hp2 HG03490.hp2 HG03669.hp1 HG03927.hp2 NA19078.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0004c0007t0010 a0001c0001t0001 a0001c0001t0002 a0004c0007t0010	a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0236 others(9): Show a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0255 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0002g0167 a0001c0001t0002g0260 a0004c0007t0010g0303	12	344	0.0349	17	c.-8+ others(34): Show c.-8+38361_-8+38362insTGTGTGTGTGTGTGTGT	NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding	1/3			chr4	TogoVar
NPFFR2_chr4_72027000_72153305	72127355	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	344	0.0029	17	c.-7- others(32): Show c.-7-1226_-7-1225insTTTTTTTTTTTTTTTTT	NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPFF_chr12_53501688_53512484	53510527	T T	TGCACTTC others(10): Show TGCACTTCACTGCAAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG03130.hp2 others(3): Show HG01891.hp2 HG02559.hp1 HG03130.hp2 HG03195.hp1 HG03540.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	6	338	0.0178	17	c.-30 others(28): Show c.-3054_-3053insCACTTGCAGTGAAGTGC	NPFF	ENSG00000139574.9	transcript	ENST00000267017.4	protein_coding		3044		chr12	TogoVar
NPHP4_chr1_5857811_5997425	5914257	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0157 a0001c0003t0002g0157	1	208	0.0048	17	c.144 others(36): Show c.1442-5061_1442-5045dupTTTTTTTTTTTTTTTTT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	11/29			chr1	TogoVar
NPHS2_chr1_179545539_179580948	179579882	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01891.hp2 HG02071.hp2 others(10): Show HG00609.hp2 HG01891.hp2 HG02071.hp2 HG02523.hp2 NA18945.hp1 NA18957.hp2 NA18964.hp2 NA18992.hp1 NA19011.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0005 a0001c0001t0001 a0001c0002t0004 a0001c0002t0005	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0096 a0001c0002t0004g0023 a0001c0002t0005g0043	13	424	0.0307	17	c.-40 others(28): Show c.-4019_-4018insTTTTTTTTTTTTTTTTT	NPHS2	ENSG00000116218.13	transcript	ENST00000367615.9	protein_coding		3935		chr1	TogoVar
NPHS2_chr1_179545539_179580948	179579898	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	424	0.0024	17	c.-40 others(28): Show c.-4035_-4034insCTTTTTTTTTTTTTTTT	NPHS2	ENSG00000116218.13	transcript	ENST00000367615.9	protein_coding		3951		chr1	TogoVar
NPIPA5_chr16_15358628_15383294	15370450	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00738.hp1 others(25): Show HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01934.hp1 HG01975.hp2 HG02040.hp1 HG02056.hp1 HG02135.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18943.hp2 NA18954.hp2 NA18961.hp1 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18982.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA19009.hp1 NA19012.hp1 NA19079.hp2 NA19086.hp1 NA19090.hp2 NA20905.hp1	a0002 a0019 a0002 a0019	a0002c0003 a0002c0008 a0019c0020 a0002c0003 a0002c0008 a0019c0020	a0002c0003t0003 a0002c0008t0003 a0019c0020t0003 a0002c0003t0003 a0002c0008t0003 a0019c0020t0003	a0002c0003t0003g0007 a0002c0003t0003g0047 a0002c0003t0003g0048 others(17): Show a0002c0003t0003g0007 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0190 a0002c0003t0003g0202 a0002c0003t0003g0204 a0002c0003t0003g0208 a0002c0003t0003g0213 a0002c0003t0003g0214 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0223 a0002c0003t0003g0225 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0230 a0002c0003t0003g0233 a0002c0008t0003g0191 a0002c0008t0003g0192 a0019c0020t0003g0205	28	430	0.0651	17	c.193 others(32): Show c.193-332_193-331insGTGTGTGTGTGTGTGTG	NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	2/7			chr16	TogoVar
NPIPA7_chr16_16374140_16398972	16388049	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01261.hp2 HG01993.hp2 others(9): Show HG00597.hp2 HG01261.hp2 HG01993.hp2 HG03834.hp1 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18984.hp2 NA19056.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0003 a0007c0016 a0002c0002 a0003c0003 a0007c0016	a0002c0002t0001 a0003c0003t0001 a0007c0016t0001 a0002c0002t0001 a0003c0003t0001 a0007c0016t0001	a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0051 others(9): Show a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0051 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0119 a0003c0003t0001g0021 a0003c0003t0001g0025 a0003c0003t0001g0032 a0007c0016t0001g0026	12	132	0.0909	17	c.437 others(32): Show c.437+244_437+245insTTTTTTTTTTTTTTTTT	NPIPA7	ENSG00000214967.6	transcript	ENST00000530217.3	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30238672	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0050 a0050	a0050c0058 a0050c0058	a0050c0058t0004 a0050c0058t0004	a0050c0058t0004g0003 a0050c0058t0004g0003	1	145	0.0069	17	c.121 others(34): Show c.121-3110_121-3094dupTTTTTTTTTTTTTTTTT	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	2/7			chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74377789	T T	TCCCCTCC others(10): Show TCCCCTCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	261	0.0038	17	c.-22 others(32): Show c.-22-142_-22-126dupCTCCCCTCCCCCTCCCC	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74377805	T T	TCCCCTCC others(10): Show TCCCCTCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0061 a0004c0004t0003g0061	1	261	0.0038	17	c.-22 others(32): Show c.-22-143_-22-142insTCCCCTCCCCCTCCCCC	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74381148	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02083.hp1 NA18989.hp2 HG02055.hp2 HG02083.hp1 NA18989.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0002 a0007c0008t0002 a0002c0002t0002 a0007c0008t0002	a0002c0002t0002g0226 a0007c0008t0002g0204 a0007c0008t0002g0215 a0002c0002t0002g0226 a0007c0008t0002g0204 a0007c0008t0002g0215	3	261	0.0115	17	c.67- others(30): Show c.67-353_67-352insAAAAAAAAAAAAAAAAA	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28355759	A A	ATAAATAA others(10): Show ATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG01891.hp2 others(24): Show HG01106.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp1 NA20300.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0012 a0004c0004 a0008c0012	a0004c0004t0002 a0004c0004t0004 a0008c0012t0002 a0004c0004t0002 a0004c0004t0004 a0008c0012t0002	a0004c0004t0002g0222 a0004c0004t0002g0224 a0004c0004t0002g0225 others(24): Show a0004c0004t0002g0222 a0004c0004t0002g0224 a0004c0004t0002g0225 a0004c0004t0002g0227 a0004c0004t0002g0228 a0004c0004t0002g0229 a0004c0004t0002g0231 a0004c0004t0002g0232 a0004c0004t0002g0233 a0004c0004t0002g0234 a0004c0004t0002g0235 a0004c0004t0002g0236 a0004c0004t0002g0237 a0004c0004t0002g0238 a0004c0004t0002g0239 a0004c0004t0002g0240 a0004c0004t0002g0241 a0004c0004t0002g0242 a0004c0004t0002g0243 a0004c0004t0002g0244 a0004c0004t0002g0245 a0004c0004t0002g0246 a0004c0004t0002g0327 a0004c0004t0004g0024 a0008c0012t0002g0223 a0008c0012t0002g0226 a0008c0012t0002g0230	27	361	0.0748	17	c.121 others(34): Show c.121-2699_121-2698insATTTATTTATTTATTTA	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	2/7			chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28356713	C C	CAGGGGAG others(10): Show CAGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	361	0.0028	17	c.121 others(34): Show c.121-3669_121-3653dupTCCCCTCCCCCTCCCCT	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	2/7			chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28455090	T T	TAATTAAA others(10): Show TAATTAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0125 a0001c0001t0022g0125	1	382	0.0026	17	c.13 others(28): Show c.1333_*1334insTTTTTTTTTTTTTAATT	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding		1238		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28470551	G G	GAGGGGAG others(10): Show GAGGGGAGGGGGAGGGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03540.hp1 HG03486.hp2 HG03540.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0021 a0016c0019t0021	a0016c0019t0021g0107 a0016c0019t0021g0108 a0016c0019t0021g0107 a0016c0019t0021g0108	2	382	0.0052	17	c.-13 others(26): Show c.-130_-114dupTCCCCTCCCCCTCCCCT	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	1/7	114		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28470608	A A	AAGGGGAG others(10): Show AAGGGGAGGGGGAAGGGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0158 a0001c0001t0053g0158	1	382	0.0026	17	c.-17 others(26): Show c.-171_-170insCCCCTTCCCCCTCCCCT	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	1/7	171		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28644427	T T	TCCCCTCC others(10): Show TCCCCTCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp2 HG02148.hp2 others(5): Show HG01192.hp1 HG01261.hp2 HG02148.hp2 HG02165.hp1 HG04115.hp2 NA18971.hp1 NA19005.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0266 a0002c0002t0002g0160 a0002c0002t0002g0161 others(5): Show a0001c0001t0001g0266 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0178	8	351	0.0228	17	c.121 others(34): Show c.121-3664_121-3648dupCTCCCCTCCCCCTCCCC	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28662527	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	351	0.0029	17	c.38 others(28): Show c.3897_*3898insGTGTGTGTGTGTGTGTG	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		3784		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28662566	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	351	0.0029	17	c.39 others(28): Show c.3936_*3937insGTGTGTGTGTGTGTGTG	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		3823		chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28758517	C C	CCCCCTTC others(10): Show CCCCCTTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp2 HG02615.hp2 NA19043.hp2	a0001 a0008 a0001 a0008	a0001c0004 a0008c0023 a0001c0004 a0008c0023	a0001c0004t0001 a0008c0023t0001 a0001c0004t0001 a0008c0023t0001	a0001c0004t0001g0080 a0008c0023t0001g0081 a0001c0004t0001g0080 a0008c0023t0001g0081	2	179	0.0112	17	c.121 others(34): Show c.121-3718_121-3702dupTTCCCCTTCCCCTCCCC	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28759521	A A	ATTATTTT others(10): Show ATTATTTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0025 a0025	a0025c0020 a0025c0020	a0025c0020t0005 a0025c0020t0005	a0025c0020t0005g0169 a0025c0020t0005g0169	1	179	0.0056	17	c.121 others(34): Show c.121-2723_121-2707dupTATTTATTTATTTATTT	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPLOC4_chr17_81551887_81642112	81617663	C C	CCCCCTCC others(10): Show CCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0252 a0001c0001t0122g0252	1	344	0.0029	17	c.210 others(34): Show c.210-4170_210-4169insAGGGGGAGGGGGAGGGG	NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	3/16			chr17	TogoVar
NPLOC4_chr17_81551887_81642112	81631437	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp1 HG06807.hp2 others(1): Show HG01109.hp2 HG01255.hp1 HG06807.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0028 a0001c0002t0033 a0001c0003t0048 a0001c0001t0028 a0001c0002t0033 a0001c0003t0048	a0001c0001t0028g0206 a0001c0002t0033g0046 a0001c0003t0048g0336 others(1): Show a0001c0001t0028g0206 a0001c0002t0033g0046 a0001c0003t0048g0336 a0001c0003t0048g0342	4	344	0.0116	17	c.16- others(32): Show c.16-1633_16-1632insTATATATATATATATAT	NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	1/16			chr17	TogoVar
NPNT_chr4_105890471_105976671	105920395	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA20300.hp1 HG01975.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0205 a0001c0001t0002g0202 a0001c0001t0001g0205 a0001c0001t0002g0202	2	236	0.0085	17	c.173 others(34): Show c.173-6933_173-6917dupAAAAAAAAAAAAAAAAA	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPR3_chr5_32706321_32796720	32710859	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01952.hp2 HG01981.hp2 others(6): Show HG01257.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02083.hp1 HG03130.hp1 HG03225.hp1 NA19062.hp1 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0013 a0001c0001t0030 others(4): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0030 a0001c0001t0051 a0001c0001t0060 a0002c0002t0002 a0002c0002t0016	a0001c0001t0003g0292 a0001c0001t0003g0302 a0001c0001t0013g0280 others(6): Show a0001c0001t0003g0292 a0001c0001t0003g0302 a0001c0001t0013g0280 a0001c0001t0030g0288 a0001c0001t0051g0270 a0001c0001t0060g0293 a0002c0002t0002g0005 a0002c0002t0002g0278 a0002c0002t0016g0276	9	320	0.0281	17	c.-91 others(26): Show c.-918_-917insTTTTTTTTTTTTTTTTT	NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding		461		chr5	TogoVar
NPR3_chr5_32706321_32796720	32764788	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0003 a0001c0001t0019g0003	1	320	0.0031	17	c.106 others(36): Show c.1060-9908_1060-9892dupAAAAAAAAAAAAAAAAA	NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
NPRL3_chr16_80386_143673	99961	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0271 a0001c0001t0002g0273	2	350	0.0057	17	c.767 others(32): Show c.767+394_767+410dupCTTTTTTTTTTTTTTTT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	8/13			chr16	TogoVar
NPRL3_chr16_80386_143673	99967	A A	AAAAAAAA others(10): Show AAAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	350	0.0029	17	c.767 others(32): Show c.767+388_767+404dupCTTTTTCTTTTTTTTTT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	8/13			chr16	TogoVar
NPRL3_chr16_80386_143673	100970	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0139 a0001c0001t0007g0139	1	350	0.0029	17	c.630 others(32): Show c.630-478_630-462dupTTTTTTTTTTTTTTTTT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	7/13			chr16	TogoVar
NPRL3_chr16_80386_143673	103296	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp2 HG01069.hp2 others(12): Show HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01515.hp1 HG02145.hp2 HG02523.hp2 HG02717.hp1 HG02735.hp1 NA18983.hp2 NA19055.hp1 NA19064.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0011 a0001c0001 a0001c0005 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0005t0001 a0001c0011t0005	a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0065 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0279 a0001c0001t0002g0334 a0001c0001t0005g0038 a0001c0001t0005g0077 a0001c0001t0011g0009 a0001c0001t0011g0034 a0001c0005t0001g0050 a0001c0011t0005g0083	15	350	0.0429	17	c.630 others(34): Show c.630-2804_630-2788dupAAAAAAAAAAAAAAAAA	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	7/13			chr16	TogoVar
NPSR1_chr7_34653218_34854978	34823399	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01261.hp2 HG01516.hp1 others(3): Show HG01257.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 NA18982.hp2 NA20752.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0009 a0003c0010 a0004c0003 others(1): Show a0001c0009 a0003c0010 a0004c0003 a0008c0012	a0001c0009t0001 a0003c0010t0004 a0004c0003t0004 others(1): Show a0001c0009t0001 a0003c0010t0004 a0004c0003t0004 a0008c0012t0001	a0001c0009t0001g0002 a0001c0009t0001g0056 a0003c0010t0004g0065 others(2): Show a0001c0009t0001g0002 a0001c0009t0001g0056 a0003c0010t0004g0065 a0004c0003t0004g0173 a0008c0012t0001g0063	6	260	0.0231	17	c.479 others(34): Show c.479-4001_479-3985dupAAAAAAAAAAAAAAAAA	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTN_chr15_73555014_73638389	73636112	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02451.hp2 HG03831.hp1 others(7): Show HG00639.hp1 HG02451.hp2 HG03831.hp1 NA18993.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19078.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(7): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0275	10	342	0.0292	17	c.-28 others(28): Show c.-2898_-2897insAAAAAAAAAAAAAAAAA	NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding		2724		chr15	TogoVar
NPTX1_chr17_80461834_80481607	80475439	A A	AGGGATCG others(10): Show AGGGATCGGGACCGAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(35): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02602.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18949.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18974.hp1 NA18987.hp1 NA18999.hp1 NA19060.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0043 a0001c0001t0067 a0001c0001t0076 a0001c0001t0080 a0001c0001t0083 a0001c0001t0092 a0001c0002t0004	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0088 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0008g0034 a0001c0001t0012g0091 a0001c0001t0014g0010 a0001c0001t0043g0089 a0001c0001t0067g0090 a0001c0001t0076g0087 a0001c0001t0080g0092 a0001c0001t0083g0093 a0001c0001t0092g0094 a0001c0002t0004g0086	38	440	0.0864	17	c.652 others(30): Show c.652+55_652+71dupGCCTCGGTCCCGATCCC	NPTX1	ENSG00000171246.7	transcript	ENST00000306773.5	protein_coding	2/4			chr17	TogoVar
NPY4R_chr10_46456099_46470958	46470698	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0012 a0002c0002t0006g0012	1	290	0.0035	17	c.-52 others(28): Show c.-5237_-5236insTTTTTTTTTTTTTTTTT	NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding		4741		chr10	TogoVar
NQO1_chr16_69704401_69731560	69713888	G G	GTTTTTTT others(10): Show GTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18995.hp2 NA19070.hp1 others(1): Show HG02523.hp1 NA18995.hp2 NA19070.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0032 a0002c0002t0005g0095 a0002c0002t0005g0032 a0002c0002t0005g0095	4	444	0.0090	17	c.418 others(32): Show c.418-760_418-759insAAAAAAAACAAAAAAAA	NQO1	ENSG00000181019.13	transcript	ENST00000320623.10	protein_coding	4/5			chr16	TogoVar
NQO2_chr6_2994894_3024755	3012946	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18963.hp1 HG01433.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	446	0.0045	17	c.303 others(32): Show c.303+283_303+299dupTTTTTTTTTTTTTTTTT	NQO2	ENSG00000124588.22	transcript	ENST00000380455.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NR1H4_chr12_100468866_100569414	100475158	T T	TATCTATC others(10): Show TATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	308	0.0033	17	c.-19 others(36): Show c.-190+1100_-190+1101insTCTATCTATCTATCTAA	NR1H4	ENSG00000012504.15	transcript	ENST00000392986.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NR1H4_chr12_100468866_100569414	100508512	C C	CTTTGAGA others(10): Show CTTTGAGATTAGACTCCT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	308	0.0033	17	c.80- others(32): Show c.80-2265_80-2249dupTTTGAGATTAGACTCCT	NR1H4	ENSG00000012504.15	transcript	ENST00000392986.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NR2C1_chr12_95015229_95078618	95019484	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0267 a0001c0001t0010g0267	1	430	0.0023	17	c.27 others(28): Show c.2744_*2745insAAAAAAAAAAAAAAAAA	NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding		744		chr12	TogoVar
NR2C1_chr12_95015229_95078618	95043689	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02683.hp2 HG04204.hp2 HG00140.hp1 HG02683.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0360 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0360	3	430	0.0070	17	c.113 others(36): Show c.1132-3093_1132-3092insTTTTTTTTTTTTTTTTT	NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding	9/13			chr12	TogoVar
NR2F1_chr5_93578222_93599611	93581734	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	294	0.0034	17	c.-32 others(28): Show c.-3290_-3289insTCTCTCTCTCTCTCTCT	NR2F1	ENSG00000175745.15	transcript	ENST00000327111.8	protein_coding		1487		chr5	TogoVar
NR3C2_chr4_148073764_148447414	148134643	C C	CTCTTTTT others(10): Show CTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02015.hp2 HG00544.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0092 a0001c0001t0010g0110 a0001c0001t0001g0092 a0001c0001t0010g0110	2	170	0.0118	17	c.251 others(38): Show c.2511-14356_2511-14355insAAAAAAAAAAAAAAAGA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	6/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148134643	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0015 a0004c0005t0004g0015	1	170	0.0059	17	c.251 others(38): Show c.2511-14372_2511-14356dupAAAAAAAAAAAAAAAAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	6/8			chr4	TogoVar
NR4A3_chr9_99816885_99871891	99862549	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02723.hp1 others(2): Show HG01884.hp1 HG01884.hp2 HG02723.hp1 HG02897.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0185 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0185 a0001c0001t0001g0209 a0001c0001t0014g0109	5	278	0.0180	17	c.163 others(36): Show c.1634-1053_1634-1037dupAAAAAAAAAAAAAAAAA	NR4A3	ENSG00000119508.18	transcript	ENST00000395097.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NR5A1_chr9_124476236_124512399	124504051	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02895.hp2 others(4): Show HG02145.hp1 HG02486.hp2 HG02895.hp2 HG02897.hp1 NA18942.hp2 NA18945.hp2 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006	a0002c0002t0001g0023 a0002c0002t0001g0062 a0002c0002t0001g0088 others(2): Show a0002c0002t0001g0023 a0002c0002t0001g0062 a0002c0002t0001g0088 a0002c0002t0003g0087 a0002c0002t0006g0025	7	356	0.0197	17	c.-15 others(32): Show c.-15-642_-15-641insCTCTCTCTCTCTCTCTC	NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding	1/6			chr9	TogoVar
NR5A2_chr1_200022710_200182415	200034783	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	1	286	0.0035	17	c.65- others(32): Show c.65-4860_65-4844dupTTTTTTTTTTTTTTTTT	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NR5A2_chr1_200022710_200182415	200066588	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0062 a0001c0007t0006g0062	1	286	0.0035	17	c.111 others(38): Show c.1110+17771_1110+17787dupTTTTTTTTTTTTTTTTT	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NR5A2_chr1_200022710_200182415	200074736	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01070.hp1 HG00609.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0002 a0001c0001t0005 a0001c0003t0002	a0001c0001t0005g0159 a0001c0003t0002g0167 a0001c0001t0005g0159 a0001c0003t0002g0167	2	286	0.0070	17	c.111 others(38): Show c.1110+25922_1110+25938dupAAAAAAAAAAAAAAAAA	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)