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.

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
USP34_chr2_61182463_61476087	61193365	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0030 a0001c0030t0030	a0001c0030t0030g0312 a0001c0030t0030g0312	1	312	0.0032	25	c.950 others(42): Show c.9509-386_9509-385insTTTTTTTTTTTTTTTTTTTTTTTTT	USP34	ENSG00000115464.15	transcript	ENST00000398571.7	protein_coding	75/79			chr2	TogoVar
USP35_chr11_78183919_78220232	78200241	T T	TCCCCTGC others(18): Show TCCCCTGCCTGCTGCCCCTGGTGAGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0037 a0009c0016t0037	a0009c0016t0037g0294 a0009c0016t0037g0294	1	416	0.0024	25	c.103 others(40): Show c.1038+29_1038+53dupGAGGCCCCTGCCTGCTGCCCCTGGT	USP35	ENSG00000118369.13	transcript	ENST00000529308.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
USP36_chr17_78790652_78845814	78821420	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03540.hp2 HG02647.hp1 HG03540.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0006 a0008c0009t0006	a0008c0009t0006g0263 a0008c0009t0006g0269 a0008c0009t0006g0263 a0008c0009t0006g0269	2	386	0.0052	25	c.758 others(40): Show c.758-360_758-359insAAAAAAATATATATATATATATATA	USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	7/20			chr17	TogoVar
USP3_chr15_63499593_63599633	63580660	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0143 a0002c0002t0009g0143	1	234	0.0043	25	c.109 others(44): Show c.1096+6257_1096+6258insTATATATATATATATATATATATAT	USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	11/14			chr15	TogoVar
USP42_chr7_6099949_6166564	6114678	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0014 a0002c0006t0001g0014	1	394	0.0025	25	c.242 others(40): Show c.242-644_242-643insATATATATATATATATATTTTTTTT	USP42	ENSG00000106346.12	transcript	ENST00000306177.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP46_chr4_52585960_52664301	52632980	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02145.hp2 HG00558.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0113 a0001c0007t0001g0129 a0001c0001t0001g0113 a0001c0007t0001g0129	2	192	0.0104	25	c.37- others(40): Show c.37-1837_37-1836insTCTTTCTTTCTTTCTTTCTTTCTTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP46_chr4_52585960_52664301	52632990	A A	AAAGAAAG others(18): Show AAAGAAAGAAAGAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	192	0.0052	25	c.37- others(40): Show c.37-1847_37-1846insCTTTTCTTTTCTTTCTTTCTTTCTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP48_chr1_21673298_21788149	21694471	T T	TGAGGCAG others(18): Show TGAGGCAGAGAACTGCTTGAACCCGG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	364	0.0028	25	c.288 others(42): Show c.2883+570_2883+594dupCCGGGTTCAAGCAGTTCTCTGCCTC	USP48	ENSG00000090686.16	transcript	ENST00000308271.14	protein_coding	23/26			chr1	TogoVar
USP49_chr6_41784896_41900375	41802407	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0185 a0001c0003t0002g0185	1	384	0.0026	25	c.156 others(44): Show c.1561+1374_1561+1398dupTAAAATAAAATAAAATAAAATAAAA	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	5/7			chr6	TogoVar
USP50_chr15_50495562_50551666	50537901	A A	AAGGGGAG others(18): Show AAGGGGAGGGGAGGGAAGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02970.hp1 HG01109.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0064 a0001c0001t0001g0065	2	384	0.0052	25	c.803 others(40): Show c.803+807_803+808insCCCCTTCCCTTCCCTCCCCTCCCCT	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
USP50_chr15_50495562_50551666	50537906	G G	GAGGGAAG others(18): Show GAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	384	0.0026	25	c.803 others(40): Show c.803+778_803+802dupTCCCTTCCCTTCCCTTCCCTTCCCT	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
USP50_chr15_50495562_50551666	50537906	G G	GAGGGGAG others(18): Show GAGGGGAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01175.hp2 others(7): Show HG00642.hp1 HG00738.hp1 HG01175.hp2 HG01192.hp1 HG02572.hp2 HG02922.hp1 HG03491.hp1 HG03492.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0246	10	384	0.0260	25	c.803 others(40): Show c.803+802_803+803insTCCCTTCCCTTCCCTTCCCTCCCCT	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
USP50_chr15_50495562_50551666	50537906	G G	GAGGGGAG others(18): Show GAGGGGAGGGGAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 NA20129.hp2 HG02922.hp2 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0002 a0001c0001t0001g0017	3	384	0.0078	25	c.803 others(40): Show c.803+802_803+803insTCCCTTCCCTTCCCTCCCCTCCCCT	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
USP53_chr4_119207713_119300518	119227299	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19079.hp2 HG02896.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0011 a0001c0001t0013	a0001c0001t0011g0068 a0001c0001t0013g0112 a0001c0001t0011g0068 a0001c0001t0013g0112	2	380	0.0053	25	c.-66 others(44): Show c.-664-7991_-664-7990insCACACACACACACACACACACACAC	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	3/18			chr4	TogoVar
USP6NL_chr10_11455510_11616650	11526099	A A	ACATGCTC others(18): Show ACATGCTCTCATGCTCCTCATGCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG00735.hp1 others(56): Show HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02080.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG03017.hp1 HG03491.hp1 HG03831.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp1 NA19011.hp2 NA19058.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0021 a0001c0001t0034 a0001c0002t0003 a0001c0002t0013 a0001c0002t0049 a0001c0017t0031 a0005c0012t0003	a0001c0001t0001g0236 a0001c0001t0003g0006 a0001c0001t0003g0061 others(56): Show a0001c0001t0001g0236 a0001c0001t0003g0006 a0001c0001t0003g0061 a0001c0001t0003g0111 a0001c0001t0003g0221 a0001c0001t0003g0229 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0003g0272 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0013g0106 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0021g0230 a0001c0001t0021g0250 a0001c0001t0034g0222 a0001c0001t0034g0223 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0280 a0001c0002t0013g0224 a0001c0002t0049g0397 a0001c0017t0031g0241 a0005c0012t0003g0279	59	402	0.1468	25	c.73- others(38): Show c.73-632_73-631insGGAGCATGAGGAGCATGAGAGCATG	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	3/14			chr10	TogoVar
USP8_chr15_50419405_50519421	50450462	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0148 a0002c0003t0148	a0002c0003t0148g0081 a0002c0003t0148g0081	1	382	0.0026	25	c.335 others(42): Show c.335+1001_335+1002insTTTTTTTTTTTTTTTTTTTTTTTTT	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
USP9X_chrX_41080445_41241579	41161635	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18984.hp1 NA18967.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0214 a0001c0001t0006g0008 a0001c0001t0001g0214 a0001c0001t0006g0008	2	293	0.0068	25	c.189 others(44): Show c.1898-1132_1898-1131insTTTTTTTTTTTTTTTTTTTTTTTTT	USP9X	ENSG00000124486.15	transcript	ENST00000378308.7	protein_coding	14/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01123.hp2 HG01192.hp1 others(4): Show HG00280.hp2 HG01123.hp2 HG01192.hp1 HG02055.hp2 HG02683.hp2 HG03491.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0031 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0005g0003	7	368	0.0190	25	c.-75 others(34): Show c.-755_-754insTTTTTTTTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02055.hp2 HG02572.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0180 a0001c0023t0001g0181 a0001c0023t0001g0180 a0001c0023t0001g0181	2	356	0.0056	25	c.223 others(42): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0116 a0002c0005t0005g0116	1	356	0.0028	25	c.223 others(42): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAGAAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP3_chr4_70683532_70695551	70694115	C C	CACTCAAG others(18): Show CACTCAAGCACTGGGAAAAGAGCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	362	0.0028	25	c.39 others(36): Show c.3998_*3999insACTCAAGCACTGGGAAAAGAGCAAG	UTP3	ENSG00000132467.4	transcript	ENST00000254803.4	protein_coding		3565		chr4	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0085 a0001c0002t0007g0085	1	128	0.0078	25	c.765 others(44): Show c.7653-9991_7653-9990insTTTTTTTTTTTGTGTGTGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA19074.hp1 HG04199.hp2 NA19074.hp1	a0002 a0016 a0002 a0016	a0002c0005 a0016c0021 a0002c0005 a0016c0021	a0002c0005t0007 a0016c0021t0005 a0002c0005t0007 a0016c0021t0005	a0002c0005t0007g0098 a0016c0021t0005g0118 a0002c0005t0007g0098 a0016c0021t0005g0118	2	128	0.0156	25	c.765 others(44): Show c.7653-9991_7653-9990insTTTTTTTTTTTTTGTGTGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTRN_chr6_144280335_144858034	144690095	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0032 a0002c0007t0004g0032	1	128	0.0078	25	c.765 others(44): Show c.7653-9991_7653-9990insTTTTTTTTTTTTTTTTTGTGTGTGT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
VAMP4_chr1_171695160_171747065	171698778	A A	ATACATAT others(18): Show ATACATATATTATATATATACATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0286 a0001c0001t0071g0286	1	366	0.0027	25	c.57 others(36): Show c.5727_*5728insAATATGTATATATATAATATATGTA	VAMP4	ENSG00000117533.15	transcript	ENST00000236192.12	protein_coding		1381		chr1	TogoVar
VARS2_chr6_30909238_30931459	30918463	G G	GTGCTCCC others(18): Show GTGCTCCCCCTGAGGAATGTACAGCA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0073 a0003c0003t0001g0073	1	417	0.0024	25	c.986 others(40): Show c.986-362_986-338dupGCTCCCCCTGAGGAATGTACAGCAT	VARS2	ENSG00000137411.19	transcript	ENST00000676266.1	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
VASH1_chr14_76756468_76788015	76768799	C C	CGGGTGGG others(18): Show CGGGTGGGTGGGCTCAGTGTGGCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0133 a0001c0002t0003g0133	1	432	0.0023	25	c.310 others(42): Show c.310-1161_310-1137dupGTGGGTGGGCTCAGTGTGGCCTTGG	VASH1	ENSG00000071246.11	transcript	ENST00000167106.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
VAT1L_chr16_77783564_77985107	77805865	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(30): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00597.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01496.hp1 HG01993.hp2 HG02083.hp2 HG02258.hp1 HG02300.hp1 HG02602.hp1 HG03041.hp1 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03654.hp2 HG03834.hp1 HG04184.hp1 NA18948.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18994.hp1 NA19002.hp1 NA19007.hp1 NA19065.hp2 NA19070.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0040 a0001c0001t0041 a0001c0002t0004 a0001c0003t0001 a0004c0009t0002	a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0145 others(30): Show a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0205 a0001c0001t0001g0241 a0001c0001t0001g0327 a0001c0001t0002g0123 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0244 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0140 a0001c0001t0003g0200 a0001c0001t0003g0247 a0001c0001t0005g0150 a0001c0001t0005g0191 a0001c0001t0005g0203 a0001c0001t0006g0093 a0001c0001t0008g0239 a0001c0001t0010g0259 a0001c0001t0010g0267 a0001c0001t0040g0268 a0001c0001t0041g0258 a0001c0002t0004g0135 a0001c0002t0004g0243 a0001c0003t0001g0186 a0001c0003t0001g0187 a0004c0009t0002g0120	33	342	0.0965	25	c.234 others(44): Show c.234-11041_234-11040insTTTTTTTTTTTTTTTTTTTTTTTTT	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAV1_chr19_6767708_6862361	6774427	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	306	0.0033	25	c.204 others(42): Show c.204+1417_204+1441dupTTTTTTTTTTTTTTTTTTTTTTTTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6789593	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	306	0.0033	25	c.204 others(44): Show c.204+16583_204+16584insTCCTTCCTTCCTTCCTTCCTTCCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCTCT others(18): Show CCTTCTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	306	0.0033	25	c.205 others(42): Show c.205-6028_205-6027insCTCTTTCTTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6857491	A A	ACAATCCA others(18): Show ACAATCCACAGACAAAGCCCCCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01515.hp2 others(6): Show HG01192.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02818.hp1 HG02976.hp2 HG03098.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0001 a0002c0003t0003 a0002c0006t0003 a0001c0001t0001 a0002c0003t0003 a0002c0006t0003	a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0110 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0110 a0001c0001t0001g0302 a0002c0003t0003g0059 a0002c0003t0003g0160 a0002c0003t0003g0161 a0002c0003t0003g0261 a0002c0006t0003g0070	9	306	0.0294	25	c.38 others(34): Show c.384_*385insCAATCCACAGACAAAGCCCCCTCAC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding		131		chr19	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCTC others(18): Show CCTCCCTCCCTCCCCACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0014 a0002c0001t0001g0014	1	115	0.0087	25	c.92 others(34): Show c.926_*927insAGGTGGTGTGTGGGGAGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCTC others(18): Show CCTCCCTCCCTCCCCACACACCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0006 a0006c0005t0001g0006	1	115	0.0087	25	c.92 others(34): Show c.926_*927insAGGAGGTGTGTGGGGAGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169727	C C	CCCTCCCT others(18): Show CCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	25	c.30 others(34): Show c.304_*305insAAGAGGTGGTGTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		216		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532914	C C	CCCTCCCT others(18): Show CCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0011 a0006c0007t0002g0011	1	74	0.0135	25	c.83 others(34): Show c.830_*831insAAGAGGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		703		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532917	T T	TCCCTCCC others(18): Show TCCCTCCCCACACACCTCCTCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	74	0.0135	25	c.82 others(34): Show c.827_*828insGGGAAGAGGAGGTGTGTGGGGAGGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		700		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533032	C C	CCCTCCCT others(18): Show CCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	74	0.0135	25	c.71 others(34): Show c.712_*713insAAGAGGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		585		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533284	C C	CCCTCCCT others(18): Show CCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	74	0.0135	25	c.46 others(34): Show c.460_*461insAAGAGGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		333		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533346	C C	CCCTCCCT others(18): Show CCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	74	0.0135	25	c.39 others(34): Show c.398_*399insAAGAGGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		271		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533408	C C	CCCTCCCT others(18): Show CCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	74	0.0135	25	c.33 others(34): Show c.336_*337insAAGAGGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		209		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533504	C C	CCCTCCCT others(18): Show CCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0024 a0024	a0024c0020 a0024c0020	a0024c0020t0003 a0024c0020t0003	a0024c0020t0003g0035 a0024c0020t0003g0035	1	74	0.0135	25	c.24 others(34): Show c.240_*241insAAGAGGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		113		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533504	C C	CCCTCCCT others(18): Show CCCTCCCTCCCCACACACCACGTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03579.hp1 HG02055.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0004 a0003c0004t0001g0004	2	74	0.0270	25	c.24 others(34): Show c.240_*241insAAGACGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		113		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533537	C C	CCCTCCCT others(18): Show CCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03139.hp1 HG02809.hp2 HG03139.hp1	a0002 a0007 a0002 a0007	a0002c0003 a0007c0008 a0002c0003 a0007c0008	a0002c0003t0001 a0007c0008t0001 a0002c0003t0001 a0007c0008t0001	a0002c0003t0001g0021 a0007c0008t0001g0007 a0002c0003t0001g0021 a0007c0008t0001g0007	2	74	0.0270	25	c.20 others(34): Show c.207_*208insAAGAGGTGGTGTGTGGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		80		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466638	A A	AGGGAGGG others(18): Show AGGGAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 NA19057.hp1 NA19057.hp2 HG02809.hp2 NA19057.hp1 NA19057.hp2	a0013 a0047 a0058 a0013 a0047 a0058	a0013c0013 a0047c0041 a0058c0062 a0013c0013 a0047c0041 a0058c0062	a0013c0013t0003 a0047c0041t0023 a0058c0062t0003 a0013c0013t0003 a0047c0041t0023 a0058c0062t0003	a0013c0013t0003g0004 a0047c0041t0023g0033 a0058c0062t0003g0004 a0013c0013t0003g0004 a0047c0041t0023g0033 a0058c0062t0003g0004	3	271	0.0111	25	c.25 others(34): Show c.255_*256insGGGAGGGAGGAAGAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		129		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466642	A A	AGGGAGGG others(18): Show AGGGAGGGAGGAAGCGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	271	0.0037	25	c.25 others(34): Show c.259_*260insGGGAGGGAGGAAGCGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		133		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466879	A A	AGGGAGGG others(18): Show AGGGAGGGAGGAATAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	271	0.0037	25	c.49 others(34): Show c.496_*497insGGGAGGGAGGAATAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		370		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466939	A A	AGGGAGGG others(18): Show AGGGAGGGAGGAAGAGGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	271	0.0037	25	c.55 others(34): Show c.556_*557insGGGAGGGAGGAAGAGGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		430		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466972	A A	AGGGAGGA others(18): Show AGGGAGGAAGGAATAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	25	c.58 others(34): Show c.589_*590insGGGAGGAAGGAATAGGTGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		463		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466972	A A	AGGGAGGG others(18): Show AGGGAGGGAGGAAGAGGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	271	0.0037	25	c.58 others(34): Show c.589_*590insGGGAGGGAGGAAGAGGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		463		chrX	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)