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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
UXS1_chr2_106088311_106199301	106094212	CGCAGGAA others(14): Show CGCAGGAAGGAAGTGCCACCTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	99	0.0101	-21	c.114 others(36): Show c.1147-76_1147-56delAAGGTGGCACTTCCTTCCTGC		UXS1	ENSG00000115652.15	transcript	ENST00000283148.12	protein_coding	14/14						chr2	TogoVar
UXS1_chr2_106088311_106199301	106143408	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	69	0.0145	-21	c.472 others(38): Show c.472+1761_472+1781delTTTTTTTTTTTTTTTTTTTTT		UXS1	ENSG00000115652.15	transcript	ENST00000283148.12	protein_coding	6/14						chr2	TogoVar
VAC14_chr16_70682439_70806158	70803721	CAGGGTTT others(14): Show CAGGGTTTAAGGTATTAGGTAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	320	0.0031	-21	c.-28 others(32): Show c.-2842_-2822delCTACCTAATACCTTAAACCCT		VAC14	ENSG00000103043.15	transcript	ENST00000261776.10	protein_coding					2564		chr16	TogoVar
VAMP3_chr1_7766296_7786432	7784381	GTGCGCGG others(14): Show GTGCGCGGCCGGGCGGGAGTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG00673.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	444	0.0045	-21	c.47 others(32): Show c.4737_*4757delTGCGCGGCCGGGCGGGAGTTC		VAMP3	ENSG00000049245.13	transcript	ENST00000054666.11	protein_coding					2950		chr1	TogoVar
VAMP3_chr1_7766296_7786432	7784384	CGCGGCCG others(14): Show CGCGGCCGGGCGGGAGTTCTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 NA18989.hp2 NA19065.hp2 HG02647.hp2 NA18989.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	304	0.0099	-21	c.47 others(32): Show c.4740_*4760delGCGGCCGGGCGGGAGTTCTGG		VAMP3	ENSG00000049245.13	transcript	ENST00000054666.11	protein_coding					2953		chr1	TogoVar
VAV1_chr19_6767708_6862361	6844063	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01071.hp1 NA19091.hp2 HG00733.hp2 HG01071.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0232 a0001c0001t0001g0272 a0001c0001t0001g0061 a0001c0001t0001g0232 a0001c0001t0001g0272	3	10	0.3000	-21	c.201 others(38): Show c.2012+918_2012+938delTTTTTTTTTTTTTTTTTTTTT		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	22/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6846802	GTTATATA others(14): Show GTTATATATTATTATATAATGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	304	0.0033	-21	c.201 others(40): Show c.2013-1178_2013-1158delATGATTATATATTATTATATA		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	22/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133891372	GGATGGAG others(14): Show GGATGGAGGGGGAGGGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(121): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA19000.hp1 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0002 a0001c0003 a0001c0004 others(19): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0015 a0001c0017 a0001c0021 a0001c0023 a0001c0027 a0001c0030 a0002c0001 a0002c0005 a0002c0011 a0002c0029 a0002c0031 a0003c0026 a0005c0024 a0006c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(44): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0014 a0001c0002t0017 a0001c0002t0034 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0006t0002 a0001c0006t0009 a0001c0007t0003 a0001c0007t0011 a0001c0007t0027 a0001c0008t0001 a0001c0008t0002 a0001c0008t0006 a0001c0010t0005 a0001c0012t0012 a0001c0015t0002 a0001c0017t0028 a0001c0021t0024 a0001c0023t0019 a0001c0027t0029 a0001c0030t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0018 a0002c0001t0020 a0002c0001t0032 a0002c0001t0033 a0002c0001t0035 a0002c0005t0001 a0002c0005t0004 a0002c0011t0004 a0002c0029t0026 a0002c0031t0001 a0003c0026t0002 a0005c0024t0002 a0006c0014t0001	a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0046 others(121): Show a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0071 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0127 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0091 a0001c0002t0002g0166 a0001c0002t0002g0173 a0001c0002t0002g0179 a0001c0002t0003g0059 a0001c0002t0003g0194 a0001c0002t0012g0026 a0001c0002t0014g0013 a0001c0002t0017g0018 a0001c0002t0017g0044 a0001c0002t0034g0117 a0001c0003t0002g0049 a0001c0003t0003g0093 a0001c0003t0006g0097 a0001c0003t0006g0160 a0001c0003t0006g0162 a0001c0003t0007g0188 a0001c0003t0008g0185 a0001c0003t0016g0054 a0001c0003t0016g0100 a0001c0004t0001g0131 a0001c0004t0001g0189 a0001c0004t0002g0029 a0001c0004t0002g0183 a0001c0004t0002g0190 a0001c0006t0002g0057 a0001c0006t0002g0081 a0001c0006t0009g0001 a0001c0006t0009g0098 a0001c0006t0009g0192 a0001c0007t0003g0004 a0001c0007t0003g0082 a0001c0007t0003g0184 a0001c0007t0011g0124 a0001c0007t0027g0092 a0001c0008t0001g0011 a0001c0008t0002g0174 a0001c0008t0006g0140 a0001c0010t0005g0167 a0001c0012t0012g0017 a0001c0015t0002g0122 a0001c0017t0028g0112 a0001c0021t0024g0021 a0001c0023t0019g0138 a0001c0027t0029g0150 a0001c0030t0001g0014 a0002c0001t0001g0002 a0002c0001t0001g0022 a0002c0001t0001g0033 a0002c0001t0001g0043 a0002c0001t0001g0048 a0002c0001t0001g0058 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0073 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0085 a0002c0001t0001g0109 a0002c0001t0001g0111 a0002c0001t0001g0123 a0002c0001t0001g0133 a0002c0001t0001g0139 a0002c0001t0001g0143 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0163 a0002c0001t0001g0172 a0002c0001t0001g0176 a0002c0001t0001g0178 a0002c0001t0001g0193 a0002c0001t0001g0195 a0002c0001t0002g0006 a0002c0001t0002g0060 a0002c0001t0002g0067 a0002c0001t0002g0069 a0002c0001t0002g0072 a0002c0001t0002g0074 a0002c0001t0002g0114 a0002c0001t0002g0187 a0002c0001t0004g0039 a0002c0001t0004g0083 a0002c0001t0004g0084 a0002c0001t0004g0142 a0002c0001t0018g0199 a0002c0001t0018g0200 a0002c0001t0020g0106 a0002c0001t0032g0036 a0002c0001t0033g0165 a0002c0001t0035g0144 a0002c0005t0001g0037 a0002c0005t0001g0045 a0002c0005t0001g0068 a0002c0005t0001g0110 a0002c0005t0001g0129 a0002c0005t0004g0070 a0002c0005t0004g0151 a0002c0011t0004g0079 a0002c0029t0026g0161 a0002c0031t0001g0159 a0003c0026t0002g0016 a0005c0024t0002g0132 a0006c0014t0001g0015	124	198	0.6263	-21	c.322 others(40): Show c.322-29961_322-29941delTCCCTTCCCTCCCCCTCCATC		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	2/29						chr9	TogoVar
VAV3_chr1_107566161_107970180	107884405	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp2 HG02922.hp2 HG06807.hp2	a0002 a0011 a0002 a0011	a0002c0010 a0011c0011 a0002c0010 a0011c0011	a0002c0010t0005 a0011c0011t0005 a0002c0010t0005 a0011c0011t0005	a0002c0010t0005g0114 a0011c0011t0005g0115 a0002c0010t0005g0114 a0011c0011t0005g0115	2	11	0.1818	-21	c.205 others(38): Show c.205-9409_205-9389delTAATAATAATAATAATAATAA		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	1/26						chr1	TogoVar
VCX3B_chrX_8459830_8471510	8466734	AGGGAGGA others(14): Show AGGGAGGAAGAGGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00639.hp2 others(8): Show HG00280.hp1 HG00438.hp2 HG00639.hp2 HG01243.hp1 HG02155.hp1 HG02257.hp2 HG03195.hp1 HG03239.hp2 HG03831.hp2 NA18946.hp2 NA19060.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0002c0025 others(2): Show a0001c0001 a0002c0002 a0002c0025 a0004c0005 a0008c0007	a0001c0001t0032 a0002c0002t0002 a0002c0025t0009 others(2): Show a0001c0001t0032 a0002c0002t0002 a0002c0025t0009 a0004c0005t0007 a0008c0007t0002	a0001c0001t0032g0003 a0002c0002t0002g0001 a0002c0002t0002g0022 others(3): Show a0001c0001t0032g0003 a0002c0002t0002g0001 a0002c0002t0002g0022 a0002c0025t0009g0013 a0004c0005t0007g0001 a0008c0007t0002g0023	11	269	0.0409	-21	c.35 others(30): Show c.352_*372delGGGAGGAAGAGGAGGTGTGTG		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					225		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466763	AGGGAGGA others(14): Show AGGGAGGAAGAGGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0005 a0009c0010t0001g0005	1	266	0.0038	-21	c.38 others(30): Show c.381_*401delGGGAGGAAGAGGAGGTGTGTG		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					254		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466792	AGGGAGGA others(14): Show AGGGAGGAAGAGGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0001 a0004c0005t0002g0001	1	270	0.0037	-21	c.41 others(30): Show c.410_*430delGGGAGGAAGAGGAGGTGTGTG		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					283		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467221	AGGGAGGA others(14): Show AGGGAGGAAGAGGTGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02148.hp2 HG02723.hp2 others(1): Show HG02132.hp1 HG02148.hp2 HG02723.hp2 HG02976.hp1	a0001 a0007 a0030 a0001 a0007 a0030	a0001c0001 a0007c0008 a0030c0044 a0001c0001 a0007c0008 a0030c0044	a0001c0001t0004 a0001c0001t0018 a0007c0008t0005 others(1): Show a0001c0001t0004 a0001c0001t0018 a0007c0008t0005 a0030c0044t0017	a0001c0001t0004g0002 a0001c0001t0018g0002 a0007c0008t0005g0004 others(1): Show a0001c0001t0004g0002 a0001c0001t0018g0002 a0007c0008t0005g0004 a0030c0044t0017g0033	4	255	0.0157	-21	c.83 others(30): Show c.839_*859delGGGAGGAAGAGGTGGTGTGTG		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					712		chrX	TogoVar
VDR_chr12_47836537_47909994	47859892	TCCTTCCT others(14): Show TCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0161 a0002c0002t0004g0161	1	355	0.0028	-21	c.278 others(38): Show c.278-2225_278-2205delGAAGGAAGGAAGGAAGGAAGG		VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9						chr12	TogoVar
VEGFC_chr4_176678538_176797922	176740347	TTATATAT others(14): Show TTATATATAGTTATATATATTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	222	0.0045	-21	c.148 others(40): Show c.148-10622_148-10602delGAATATATATAACTATATATA		VEGFC	ENSG00000150630.4	transcript	ENST00000618562.2	protein_coding	1/6						chr4	TogoVar
VGLL1_chrX_136527215_136561799	136532641	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	257	0.0039	-21	c.-26 others(36): Show c.-26+349_-26+369delCTTTCTTTCTTTCTTTCTTTT		VGLL1	ENSG00000102243.13	transcript	ENST00000370634.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
VGLL3_chr3_86932973_86996149	86988640	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19062.hp1 HG01243.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0180 a0001c0001t0008g0189 a0001c0001t0003g0180 a0001c0001t0008g0189	2	112	0.0179	-21	c.126 others(38): Show c.126+1957_126+1977delTTTTTTTTTTTTTTTTTTTTT		VGLL3	ENSG00000206538.9	transcript	ENST00000398399.7	protein_coding	1/3						chr3	TogoVar
VIL1_chr2_218414123_218458295	218415954	TCTCTCTC others(14): Show TCTCTCTCTCTATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0072 a0002c0002t0005g0072	1	334	0.0030	-21	c.-32 others(32): Show c.-3225_-3205delCTCTCTCTCTATATATATATA		VIL1	ENSG00000127831.11	transcript	ENST00000248444.10	protein_coding					3168		chr2	TogoVar
VIPR2_chr7_159023175_159149867	159106535	AGGAGGGG others(14): Show AGGAGGGGCAGAGAGAGGCCAG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0254 a0001c0002t0002g0254	1	332	0.0030	-21	c.260 others(38): Show c.260-2702_260-2682delCTGGCCTCTCTCTGCCCCTCC		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	3/12						chr7	TogoVar
VIRMA_chr8_94482689_94558469	94483263	TTGAAAAG others(14): Show TTGAAAAGATATTTGTACACTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG02615.hp2 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0001g0036 a0001c0003t0001g0039	2	344	0.0058	-21	c.54 others(32): Show c.5422_*5442delGAGTGTACAAATATCTTTTCA		VIRMA	ENSG00000164944.12	transcript	ENST00000297591.10	protein_coding					4425		chr8	TogoVar
VKORC1L1_chr7_65868074_65964558	65872985	GCCCATCC others(14): Show GCCCATCCCCACCCCTGCCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00741.hp1 others(12): Show HG00140.hp2 HG00323.hp2 HG00741.hp1 HG01168.hp2 HG01192.hp1 HG01346.hp2 HG01496.hp1 HG02602.hp1 HG02895.hp1 HG02897.hp1 HG03669.hp1 HG03942.hp2 HG04204.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0092 others(12): Show a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0125 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0032g0131	15	348	0.0431	-21	c.-38 others(30): Show c.-386_-366delCCCATCCCCACCCCTGCCCCA		VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding					88		chr7	TogoVar
VKORC1L1_chr7_65868074_65964558	65895471	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0320 a0001c0001t0006g0320	1	341	0.0029	-21	c.194 others(40): Show c.194+21908_194+21928delAAAAAAAAATATATATATATA		VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
VKORC1L1_chr7_65868074_65964558	65895475	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0333 a0001c0001t0025g0333	1	338	0.0030	-21	c.194 others(40): Show c.194+21912_194+21932delAAAAATATATATATATATATA		VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
VKORC1L1_chr7_65868074_65964558	65895477	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	332	0.0030	-21	c.194 others(40): Show c.194+21914_194+21934delAAATATATATATATATATATA		VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
VKORC1L1_chr7_65868074_65964558	65963570	AAGTCTCA others(14): Show AAGTCTCACTCTGTTGTCCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(111): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19078.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0041	a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0018 others(110): Show a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0004g0004 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0112 a0001c0001t0004g0119 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0124 a0001c0001t0004g0132 a0001c0001t0004g0138 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0153 a0001c0001t0004g0156 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0168 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0178 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0008g0090 a0001c0001t0008g0105 a0001c0001t0008g0106 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0135 a0001c0001t0008g0140 a0001c0001t0017g0085 a0001c0001t0017g0093 a0001c0001t0019g0087 a0001c0001t0019g0126 a0001c0001t0029g0005 a0001c0001t0030g0130 a0001c0001t0031g0120 a0001c0001t0032g0131 a0001c0001t0041g0166	114	348	0.3276	-21	c.92 others(32): Show c.9271_*9291delAGTCTCACTCTGTTGTCCAGG		VKORC1L1	ENSG00000196715.7	transcript	ENST00000360768.5	protein_coding					4013		chr7	TogoVar
VN1R2_chr19_53253292_53264602	53254971	GGGGATGG others(14): Show GGGGATGGGCGGGGACAATGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02055.hp1 others(17): Show HG01243.hp2 HG01346.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0002c0006 a0001c0005 a0002c0002 a0002c0006	a0001c0005t0004 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0005t0004 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001	a0001c0005t0004g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 others(1): Show a0001c0005t0004g0000 a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0006t0001g0000	20	374	0.0535	-21	c.-34 others(32): Show c.-3404_-3384delGGGATGGGCGGGGACAATGGC		VN1R2	ENSG00000196131.6	transcript	ENST00000341702.3	protein_coding					3320		chr19	TogoVar
VPS13B_chr8_99008274_99882580	99540045	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19066.hp1 HG02273.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0115 a0001c0001t0004g0091 a0001c0001t0002g0115 a0001c0001t0004g0091	2	128	0.0156	-21	c.474 others(42): Show c.4746-16403_4746-16383delATATATATATATATATATTTT		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99540047	ATATATAT others(14): Show ATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	123	0.0081	-21	c.474 others(42): Show c.4746-16401_4746-16381delATATATATATATATATTTTTT		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99639985	GTAATAAT others(14): Show GTAATAATAATAATAATAATAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00738.hp2 others(19): Show HG00408.hp2 HG00609.hp2 HG00738.hp2 HG01261.hp2 HG01433.hp2 HG01517.hp1 HG01934.hp2 HG01978.hp2 HG02074.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02965.hp2 HG02970.hp2 NA18522.hp1 NA18950.hp1 NA18952.hp1 NA18991.hp1 NA19003.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0001c0021 a0002c0003 a0003c0004 a0003c0007 a0005c0009	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(7): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0008t0005 a0001c0021t0001 a0002c0003t0003 a0002c0003t0007 a0003c0004t0001 a0003c0007t0005 a0005c0009t0004	a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0040 others(19): Show a0001c0001t0002g0026 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0025 a0001c0002t0001g0034 a0001c0002t0002g0001 a0001c0008t0005g0125 a0001c0021t0001g0121 a0002c0003t0003g0024 a0002c0003t0003g0036 a0002c0003t0007g0028 a0003c0004t0001g0112 a0003c0007t0005g0060 a0005c0009t0004g0120	22	93	0.2366	-21	c.522 others(40): Show c.5221-1804_5221-1784delTAATAATAATAATAATAATAA		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99640007	TAATAATA others(14): Show TAATAATAATAATAATAATAAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00597.hp1 others(12): Show HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00735.hp1 HG01109.hp2 HG01496.hp2 HG02040.hp1 HG02080.hp1 NA18612.hp2 NA18984.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19078.hp1	a0001 a0008 a0019 a0001 a0008 a0019	a0001c0001 a0001c0002 a0001c0011 others(2): Show a0001c0001 a0001c0002 a0001c0011 a0008c0012 a0019c0017	a0001c0001t0002 a0001c0002t0001 a0001c0011t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0011t0002 a0008c0012t0002 a0019c0017t0001	a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0032 others(12): Show a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0023 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0011t0002g0007 a0008c0012t0002g0022 a0019c0017t0001g0012	15	129	0.1163	-21	c.522 others(40): Show c.5221-1801_5221-1781delTAATAATAATAATAATAAGAA		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13D_chr1_12225030_12517047	12482739	CTAGTATA others(14): Show CTAGTATACATATATGTATACA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18943.hp1 HG02965.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0037 a0002c0004t0001g0081 a0001c0001t0001g0037 a0002c0004t0001g0081	2	110	0.0182	-21	c.126 others(44): Show c.12663-14725_12663-14705delGTATACATAGTATACATATAT		VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	67/69					INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS35L_chr16_19550703_19706163	19623796	ATTATTAT others(14): Show ATTATTATTATTATTATTATTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG03516.hp1 others(1): Show HG02630.hp1 HG02647.hp1 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0046 others(1): Show a0001c0001t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0046 a0001c0002t0002g0006	4	282	0.0142	-21	c.122 others(40): Show c.1225-2378_1225-2358delATTATTATTATTATTATTGTT		VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	14/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS41_chr7_38717974_38914191	38720487	TATATATA others(14): Show TATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02109.hp1 HG02148.hp2 others(4): Show HG01978.hp2 HG02109.hp1 HG02148.hp2 HG02965.hp1 HG03516.hp2 NA20752.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0012	a0001c0001t0019 a0001c0002t0037 a0001c0003t0021 others(1): Show a0001c0001t0019 a0001c0002t0037 a0001c0003t0021 a0005c0012t0051	a0001c0001t0019g0011 a0001c0001t0019g0024 a0001c0002t0037g0177 others(4): Show a0001c0001t0019g0011 a0001c0001t0019g0024 a0001c0002t0037g0177 a0001c0003t0021g0073 a0001c0003t0021g0097 a0001c0003t0021g0100 a0005c0012t0051g0217	7	134	0.0522	-21	c.57 others(32): Show c.5738_*5758delTATATATATATATATATATAT		VPS41	ENSG00000006715.16	transcript	ENST00000310301.9	protein_coding					2486		chr7	TogoVar
VPS4A_chr16_69306350_69331939	69310070	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01975.hp1 others(1): Show HG01167.hp2 HG01169.hp2 HG01975.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0150 a0001c0003t0004g0064	4	37	0.1081	-21	c.-14 others(32): Show c.-1441_-1421delTTTTTTTTTTTTTTTTTTTTT		VPS4A	ENSG00000132612.16	transcript	ENST00000254950.13	protein_coding					1279		chr16	TogoVar
VPS50_chr7_93227366_93366123	93250242	TTTTTTGG others(14): Show TTTTTTGGCTTGAAATTACTAA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18983.hp2 NA18987.hp1 others(1): Show NA18969.hp1 NA18983.hp2 NA18987.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0003	a0001c0002t0001g0078 a0001c0002t0002g0077 a0001c0002t0007g0097 others(1): Show a0001c0002t0001g0078 a0001c0002t0002g0077 a0001c0002t0007g0097 a0001c0003t0003g0074	4	314	0.0127	-21	c.103 others(38): Show c.103-2409_103-2389delTTTTGGCTTGAAATTACTAAT		VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS50_chr7_93227366_93366123	93302157	CTTAGGAT others(14): Show CTTAGGATTGTGATCCACTTGA	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	314	0.0032	-21	c.136 others(40): Show c.1362-1302_1362-1282delTTAGGATTGTGATCCACTTGA		VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	16/27						chr7	TogoVar
VPS52_chr6_33245278_33276876	33256463	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp1 HG02132.hp2 others(3): Show HG02027.hp2 HG02129.hp1 HG02132.hp2 HG03098.hp2 NA18948.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0003 a0001c0005t0007 a0001c0006t0003 a0001c0003t0003 a0001c0005t0007 a0001c0006t0003	a0001c0003t0003g0230 a0001c0005t0007g0037 a0001c0005t0007g0229 others(2): Show a0001c0003t0003g0230 a0001c0005t0007g0037 a0001c0005t0007g0229 a0001c0006t0003g0227 a0001c0006t0003g0228	6	48	0.1250	-21	c.179 others(40): Show c.1795-4513_1795-4493delTTTTTTTTTTTTTTTTTTTTT		VPS52	ENSG00000223501.9	transcript	ENST00000445902.3	protein_coding	17/19						chr6	TogoVar
VRK2_chr2_58041806_58164871	58136763	ATATATAT others(14): Show ATATATATATCATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01975.hp1 HG01168.hp1 HG01169.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0305 a0001c0001t0002g0005 a0001c0001t0001g0305 a0001c0001t0002g0005	3	336	0.0089	-21	c.856 others(38): Show c.856+1602_856+1622delATGTGTATATATATCATATAT		VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK3_chr19_49971468_50030372	50007714	CCTGGTCT others(14): Show CCTGGTCTTCTGAGGGCTACAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp1 HG02040.hp1 HG02080.hp1 others(18): Show HG00558.hp1 HG02040.hp1 HG02080.hp1 HG02132.hp2 HG02523.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 NA18945.hp1 NA18949.hp1 NA18956.hp2 NA18970.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0038 others(16): Show a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054	21	348	0.0603	-21	c.381 others(28): Show c.381_401delCTGTAGCCCTCAGAAGACCAG	p.Ser others(13): Show p.Ser127_Thr133del	VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	5/15	571/1923	381/1425	127/474			chr19	TogoVar
VRK3_chr19_49971468_50030372	50019674	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19010.hp1 NA18956.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0224 a0001c0002t0001g0225	2	18	0.1111	-21	c.-2+ others(34): Show c.-2+890_-2+910delAAAAAAAAAAAAAAAAAAAAA		VRK3	ENSG00000105053.11	transcript	ENST00000316763.8	protein_coding	2/14						chr19	TogoVar
VTA1_chr6_142142263_142229685	142159478	GTATTATT others(14): Show GTATTATTATTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 NA19240.hp1 HG01109.hp1 HG02055.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0136 a0002c0002t0013g0137 a0002c0002t0013g0138 a0002c0002t0013g0136 a0002c0002t0013g0137 a0002c0002t0013g0138	3	131	0.0229	-21	c.113 others(38): Show c.113-6718_113-6698delATTATTATTATTATTATTATT		VTA1	ENSG00000009844.16	transcript	ENST00000367630.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
VTI1A_chr10_112442215_112823744	112700120	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	166	0.0060	-21	c.560 others(40): Show c.560+31136_560+31156delAACAAAACAAAAAAAAAAAAA		VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA1_chr1_1430690_1447882	1443673	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	3	0.3333	-21	c.38 others(32): Show c.3887_*3907delTTTTTTTTTTTTTTTTTTTTT		VWA1	ENSG00000179403.12	transcript	ENST00000476993.2	protein_coding					792		chr1	TogoVar
VWA3A_chr16_22087541_22161964	22154960	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	26	0.0385	-21	c.340 others(38): Show c.3406-590_3406-570delAAAAAAAAAAAAAAAAAAAAA		VWA3A	ENSG00000175267.15	transcript	ENST00000389398.10	protein_coding	31/33					INFO_REALIGN_3_PRIME	chr16	TogoVar
VWA8_chr13_41561835_41966109	41563811	CACACACA others(14): Show CACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0030 a0005c0005t0001g0030	1	248	0.0040	-21	c.43 others(32): Show c.4365_*4385delTGTGTGTGTGTGTGTGTGTGT		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding					3023		chr13	TogoVar
VWA8_chr13_41561835_41966109	41841803	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02738.hp2 NA18975.hp2 others(1): Show HG01993.hp1 HG02738.hp2 NA18975.hp2 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0023 others(1): Show a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0035	4	247	0.0162	-21	c.142 others(40): Show c.1426-8293_1426-8273delATATTTTTTTTTTTTTTTTTT		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44						chr13	TogoVar
VWA8_chr13_41561835_41966109	41841805	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	223	0.0045	-21	c.142 others(40): Show c.1426-8295_1426-8275delATATATTTTTTTTTTTTTTTT		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44						chr13	TogoVar
VWA8_chr13_41561835_41966109	41841807	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA20805.hp1 NA19068.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0045 a0002c0002t0001g0039 a0002c0002t0001g0045	2	244	0.0082	-21	c.142 others(40): Show c.1426-8297_1426-8277delATATATATTTTTTTTTTTTTT		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44						chr13	TogoVar
VWA8_chr13_41561835_41966109	41841813	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0160 a0008c0008t0001g0160	1	236	0.0042	-21	c.142 others(40): Show c.1426-8303_1426-8283delATATATATATATATTTTTTTT		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44						chr13	TogoVar
VWA8_chr13_41561835_41966109	41841817	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0248 a0001c0001t0006g0248	1	237	0.0042	-21	c.142 others(40): Show c.1426-8307_1426-8287delATATATATATATATATATTTT		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44						chr13	TogoVar

Search by Variant

Search

Search Results