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 (≤).

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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
SIPA1L3_chr19_37902208_38213369	38125022	A A	AGGGAGAG others(16): Show AGGGAGAGGGAGAGGGAGACCGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp2 NA19043.hp1 HG02970.hp1 HG03041.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0014 a0001c0004 a0002c0014	a0001c0004t0003 a0001c0004t0013 a0002c0014t0001 a0001c0004t0003 a0001c0004t0013 a0002c0014t0001	a0001c0004t0003g0158 a0001c0004t0013g0089 a0002c0014t0001g0149 a0001c0004t0003g0158 a0001c0004t0013g0089 a0002c0014t0001g0149	3	164	0.0183	23	c.286 others(42): Show c.2868+5157_2868+5158insACCGTGGGGAGAGGGAGAGGGAG	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT6_chr19_4169109_4187563	4169272	A A	ACGAGTTC others(16): Show ACGAGTTCAGGAGATCGAGACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	410	0.0024	23	c.53 others(34): Show c.5322_*5344dupGTGGTCTCGATCTCCTGAACTCG	SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding		4836		chr19	TogoVar
SI_chr3_164973898_165083496	165028683	T T	TGAGGAAA others(16): Show TGAGGAAAGGACATCCTATTCAAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00673.hp2 others(5): Show HG00438.hp2 HG00558.hp1 HG00673.hp2 NA18941.hp2 NA18975.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 others(5): Show a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0148	8	266	0.0301	23	c.289 others(42): Show c.2892+2006_2892+2028dupGTTGAATAGGATGTCCTTTCCTC	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	25/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48347829	C C	CTAAATGG others(16): Show CTAAATGGACTGCCTGGCTAGTAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0001g0241 a0001c0005t0001g0242	2	292	0.0069	23	c.179 others(40): Show c.179-1846_179-1824dupTTACTAGCCAGGCAGTCCATTTA	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	3/12			chr17	TogoVar
SKAP2_chr7_26662068_26869590	26717509	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19240.hp2 HG02300.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0194 a0001c0001t0001g0091 a0001c0001t0001g0194	2	296	0.0068	23	c.796 others(40): Show c.796+7896_796+7918dupTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26857310	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18979.hp1 HG02083.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0030 a0001c0001t0004g0109 a0001c0001t0001g0030 a0001c0001t0004g0109	2	296	0.0068	23	c.68- others(38): Show c.68-2443_68-2421dupTTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	1/12			chr7	TogoVar
SKI_chr1_2223319_2315213	2280884	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18983.hp1 HG02145.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0241 a0001c0001t0009g0103 a0001c0001t0003g0241 a0001c0001t0009g0103	2	330	0.0061	23	c.970 others(42): Show c.970-22092_970-22091insTGGCGGAGATCTTCATAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280927	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG03130.hp1 others(2): Show HG00735.hp1 HG01891.hp1 HG03130.hp1 HG03688.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0061 a0001c0003t0020	a0001c0001t0002g0326 a0001c0001t0003g0197 a0001c0001t0007g0086 others(2): Show a0001c0001t0002g0326 a0001c0001t0003g0197 a0001c0001t0007g0086 a0001c0001t0061g0138 a0001c0003t0020g0015	5	330	0.0152	23	c.970 others(42): Show c.970-22049_970-22048insTGGCGGAGATCTTCATAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280936	C C	CGATCTTC others(16): Show CGATCTTCAGAGAGAGGTGGCGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	330	0.0030	23	c.970 others(42): Show c.970-22026_970-22025insTGGCGGAGATCTTCAGAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280970	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	330	0.0030	23	c.970 others(42): Show c.970-22006_970-22005insTGGCGGAGATCTTCAGAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280970	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01928.hp1 HG02735.hp2 others(6): Show HG01884.hp1 HG01928.hp1 HG02735.hp2 NA18977.hp2 NA18979.hp1 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019	a0001c0001t0002g0102 a0001c0001t0003g0022 a0001c0001t0003g0191 others(6): Show a0001c0001t0002g0102 a0001c0001t0003g0022 a0001c0001t0003g0191 a0001c0001t0004g0134 a0001c0001t0005g0227 a0001c0001t0007g0098 a0001c0001t0008g0041 a0001c0001t0008g0107 a0001c0001t0019g0223	9	330	0.0273	23	c.970 others(42): Show c.970-22006_970-22005insTGGCGGAGATCTTCATAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280994	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0306 a0001c0001t0041g0306	1	330	0.0030	23	c.970 others(42): Show c.970-21983_970-21982insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281013	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18959.hp2 NA19063.hp1 HG03831.hp1 NA18959.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0031 a0001c0001t0004g0025 a0001c0001t0004g0219 a0001c0001t0003g0031 a0001c0001t0004g0025 a0001c0001t0004g0219	3	330	0.0091	23	c.970 others(42): Show c.970-21963_970-21962insTGGCGGAGATCTTCATAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281056	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19011.hp2 NA19012.hp2 HG04184.hp2 NA19011.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017	a0001c0001t0002g0301 a0001c0001t0010g0164 a0001c0001t0017g0287 a0001c0001t0002g0301 a0001c0001t0010g0164 a0001c0001t0017g0287	3	330	0.0091	23	c.970 others(42): Show c.970-21920_970-21919insTGGCGGAGATCTTCATAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281099	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02165.hp2 HG02818.hp1 HG01081.hp1 HG02165.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0035 a0001c0001t0001 a0001c0001t0002 a0001c0001t0035	a0001c0001t0001g0165 a0001c0001t0002g0124 a0001c0001t0035g0261 a0001c0001t0001g0165 a0001c0001t0002g0124 a0001c0001t0035g0261	3	330	0.0091	23	c.970 others(42): Show c.970-21877_970-21876insTGGCGGAGATCTTCATAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281123	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0306 a0001c0001t0041g0306	1	330	0.0030	23	c.970 others(42): Show c.970-21854_970-21853insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281166	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02717.hp2 HG00733.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0056 a0001c0001t0005 a0001c0001t0056	a0001c0001t0005g0153 a0001c0001t0056g0315 a0001c0001t0005g0153 a0001c0001t0056g0315	2	330	0.0061	23	c.970 others(42): Show c.970-21811_970-21810insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281185	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	330	0.0030	23	c.970 others(42): Show c.970-21793_970-21792insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281209	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03831.hp1 NA18983.hp2 others(2): Show HG02273.hp2 HG03831.hp1 NA18983.hp2 NA19011.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0030	a0001c0001t0002g0277 a0001c0001t0004g0219 a0001c0001t0005g0157 others(2): Show a0001c0001t0002g0277 a0001c0001t0004g0219 a0001c0001t0005g0157 a0001c0001t0010g0164 a0001c0001t0030g0054	5	330	0.0152	23	c.970 others(42): Show c.970-21768_970-21767insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281272	C C	CGGCGGCG others(16): Show CGGCGGCGGCGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02809.hp2 HG02145.hp1 HG02615.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0069 a0001c0001t0009 a0001c0001t0069	a0001c0001t0009g0100 a0001c0001t0009g0103 a0001c0001t0069g0104 a0001c0001t0009g0100 a0001c0001t0009g0103 a0001c0001t0069g0104	3	330	0.0091	23	c.970 others(42): Show c.970-21704_970-21703insCGGCGGCGATCTTCAGAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281296	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0191 a0001c0001t0008g0107 a0001c0001t0003g0191 a0001c0001t0008g0107	2	330	0.0061	23	c.970 others(42): Show c.970-21681_970-21680insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281315	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1 HG01099.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0083 a0001c0001t0005 a0001c0001t0083	a0001c0001t0005g0228 a0001c0001t0005g0232 a0001c0001t0083g0231 a0001c0001t0005g0228 a0001c0001t0005g0232 a0001c0001t0083g0231	3	330	0.0091	23	c.970 others(42): Show c.970-21663_970-21662insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281359	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02818.hp1 HG01361.hp1 HG01891.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0035 a0001c0003t0020 a0001c0001t0005 a0001c0001t0035 a0001c0003t0020	a0001c0001t0005g0089 a0001c0001t0035g0261 a0001c0003t0020g0015 a0001c0001t0005g0089 a0001c0001t0035g0261 a0001c0003t0020g0015	3	330	0.0091	23	c.970 others(42): Show c.970-21619_970-21618insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281359	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	330	0.0030	23	c.970 others(42): Show c.970-21602_970-21601insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281426	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02273.hp2 HG02615.hp2 others(3): Show HG01884.hp1 HG02273.hp2 HG02615.hp2 HG02809.hp2 HG04184.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0069	a0001c0001t0002g0102 a0001c0001t0002g0301 a0001c0001t0005g0157 others(3): Show a0001c0001t0002g0102 a0001c0001t0002g0301 a0001c0001t0005g0157 a0001c0001t0007g0098 a0001c0001t0009g0100 a0001c0001t0069g0104	6	330	0.0182	23	c.970 others(42): Show c.970-21551_970-21550insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281445	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02698.hp1 NA19091.hp1 HG02165.hp1 HG02698.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0018 a0001c0001t0001g0135 a0001c0001t0002g0049 a0001c0001t0001g0018 a0001c0001t0001g0135 a0001c0001t0002g0049	3	330	0.0091	23	c.970 others(42): Show c.970-21533_970-21532insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281488	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0054 a0001c0001t0030g0054	1	330	0.0030	23	c.970 others(42): Show c.970-21490_970-21489insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281549	T T	TAGAGAGG others(16): Show TAGAGAGGTGGCGGAGATCTTCAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	330	0.0030	23	c.970 others(42): Show c.970-21422_970-21421insTGGCGGAGATCTTCAGAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281555	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG01975.hp1 others(13): Show HG01361.hp2 HG01884.hp1 HG01975.hp1 HG02004.hp2 HG02615.hp2 HG02647.hp1 HG02809.hp2 NA18946.hp2 NA18956.hp2 NA18961.hp2 NA18971.hp1 NA18984.hp2 NA18990.hp1 NA19007.hp1 NA19062.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0069	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 others(13): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0003g0019 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0004g0017 a0001c0001t0005g0206 a0001c0001t0005g0225 a0001c0001t0008g0042 a0001c0001t0009g0100 a0001c0001t0069g0104	16	330	0.0485	23	c.970 others(42): Show c.970-21422_970-21421insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281574	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18977.hp2 NA18979.hp1 HG03130.hp1 NA18977.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0326 a0001c0001t0003g0022 a0001c0001t0008g0041 a0001c0001t0002g0326 a0001c0001t0003g0022 a0001c0001t0008g0041	3	330	0.0091	23	c.970 others(42): Show c.970-21404_970-21403insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281617	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp2 NA18942.hp1 others(4): Show HG02630.hp1 HG03209.hp2 NA18942.hp1 NA18948.hp2 NA18998.hp1 NA19057.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0071 a0001c0003t0007	a0001c0001t0001g0035 a0001c0001t0003g0039 a0001c0001t0004g0034 others(4): Show a0001c0001t0001g0035 a0001c0001t0003g0039 a0001c0001t0004g0034 a0001c0001t0004g0040 a0001c0001t0012g0258 a0001c0001t0071g0024 a0001c0003t0007g0171	7	330	0.0212	23	c.970 others(42): Show c.970-21361_970-21360insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281617	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	330	0.0030	23	c.970 others(42): Show c.970-21344_970-21343insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281641	G G	GGTGGTGG others(16): Show GGTGGTGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	330	0.0030	23	c.970 others(42): Show c.970-21336_970-21335insTGGTGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281660	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	330	0.0030	23	c.970 others(42): Show c.970-21318_970-21317insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281660	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	330	0.0030	23	c.970 others(42): Show c.970-21315_970-21293dupTGGCGGAGATCTTCAGAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281684	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	330	0.0030	23	c.970 others(42): Show c.970-21293_970-21292insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281703	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	330	0.0030	23	c.970 others(42): Show c.970-21270_970-21269insCGGAGATCTTCAGAGAGAGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281703	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	330	0.0030	23	c.970 others(42): Show c.970-21270_970-21269insCGGAGATCTTCATAGAGAGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281746	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0207 a0001c0001t0005g0207	1	330	0.0030	23	c.970 others(42): Show c.970-21232_970-21231insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281746	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0053 a0001c0006t0040g0053	1	330	0.0030	23	c.970 others(42): Show c.970-21229_970-21207dupTGGCGGAGATCTTCAGAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281746	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 homoSapiens_chm13v2.hp1 HG02896.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0083 a0001c0001t0017 a0001c0001t0083	a0001c0001t0017g0068 a0001c0001t0083g0231 a0001c0001t0017g0068 a0001c0001t0083g0231	2	330	0.0061	23	c.970 others(42): Show c.970-21215_970-21214insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281787	G G	GGTGGTGG others(16): Show GGTGGTGGCGGAGATCTTCATAGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18977.hp2 NA18984.hp2 HG02004.hp2 NA18977.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0003g0022 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0003g0022	3	330	0.0091	23	c.970 others(42): Show c.970-21190_970-21189insTGGTGGCGGAGATCTTCATAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281789	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	330	0.0030	23	c.970 others(42): Show c.970-21172_970-21171insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281813	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18962.hp2 HG02717.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0072 a0001c0001t0056 a0001c0001t0072	a0001c0001t0056g0315 a0001c0001t0072g0200 a0001c0001t0056g0315 a0001c0001t0072g0200	2	330	0.0061	23	c.970 others(42): Show c.970-21164_970-21163insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281832	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18990.hp1 HG03516.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0003 a0001c0001t0029	a0001c0001t0003g0044 a0001c0001t0029g0056 a0001c0001t0003g0044 a0001c0001t0029g0056	2	330	0.0061	23	c.970 others(42): Show c.970-21141_970-21140insCGGAGATCTTCATAGAGAGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281875	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01257.hp2 HG02004.hp2 others(4): Show HG00099.hp1 HG01257.hp2 HG02004.hp2 HG02155.hp1 HG02896.hp2 NA18977.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0002g0036 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0002g0036 a0001c0001t0003g0022 a0001c0001t0004g0230 a0001c0001t0014g0070 a0001c0001t0017g0068	7	330	0.0212	23	c.970 others(42): Show c.970-21086_970-21085insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281899	G G	GGTGGCGG others(16): Show GGTGGCGGAGATCTTCAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0040 a0001c0006t0040	a0001c0006t0040g0053 a0001c0006t0040g0053	1	330	0.0030	23	c.970 others(42): Show c.970-21078_970-21077insTGGCGGAGATCTTCAGAGAGAAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281918	C C	CAGTGGCG others(16): Show CAGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG00738.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0256 a0001c0001t0019g0233 a0001c0001t0002g0256 a0001c0001t0019g0233	2	330	0.0061	23	c.970 others(42): Show c.970-21060_970-21059insAGTGGCGGAGATCTTCATAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281918	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19084.hp1 HG01243.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0044 a0001c0001t0003 a0001c0001t0044	a0001c0001t0003g0191 a0001c0001t0044g0292 a0001c0001t0003g0191 a0001c0001t0044g0292	2	330	0.0061	23	c.970 others(42): Show c.970-21057_970-21035dupTGGCGGAGATCTTCAGAGAGAGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281918	C C	CGGTGGCG others(16): Show CGGTGGCGGAGATCTTCATAGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18747.hp1 NA18942.hp1 others(6): Show HG01099.hp2 NA18747.hp1 NA18942.hp1 NA18948.hp2 NA18990.hp1 NA18998.hp1 NA19057.hp1 NA19079.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0071	a0001c0001t0001g0035 a0001c0001t0001g0121 a0001c0001t0003g0039 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0121 a0001c0001t0003g0039 a0001c0001t0003g0044 a0001c0001t0004g0034 a0001c0001t0004g0040 a0001c0001t0005g0228 a0001c0001t0005g0232 a0001c0001t0071g0024	9	330	0.0273	23	c.970 others(42): Show c.970-21043_970-21042insTAGAGAGGTGGCGGAGATCTTCA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 8696 hits)