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
PPP6R2_chr22_50338327_50450090	50339820	GGGTATGT others(27): Show GGGTATGTAGTGTGTGTGGTGTGTGGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0016 a0001c0027t0016	a0001c0027t0016g0075 a0001c0027t0016g0075	1	340	0.0029	-34	c.-38 others(45): Show c.-3877_-3844delGGTATGTAGTGTGTGTGGTGTGTGGTGTGTGTGT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		3506		chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68580746	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG03098.hp2 others(3): Show HG02622.hp1 HG02630.hp1 HG03098.hp2 HG03471.hp1 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020	a0001c0001t0014g0178 a0001c0001t0014g0179 a0001c0001t0016g0174 others(3): Show a0001c0001t0014g0178 a0001c0001t0014g0179 a0001c0001t0016g0174 a0001c0001t0016g0177 a0001c0001t0020g0175 a0001c0001t0020g0176	6	252	0.0238	-34	c.154 others(53): Show c.1546-2287_1546-2254delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRAMEF33_chr1_13298539_13313907	13299377	AGGGAGAG others(27): Show AGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0052 a0052	a0052c0034 a0052c0034	a0052c0034t0001 a0052c0034t0001	a0052c0034t0001g0037 a0052c0034t0001g0037	1	417	0.0024	-34	c.-42 others(45): Show c.-4234_-4201delGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTG	PRAMEF33	ENSG00000237700.2	transcript	ENST00000437300.2	protein_coding		4161		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3433448	CCTGCCTG others(27): Show CCTGCCTGTCCAGGATGGCCTGCCCTGCCCATCTG	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0149 a0001c0002t0006g0149	1	210	0.0048	-34	c.369 others(51): Show c.3697-219_3697-186delCAGGATGGCCTGCCCTGCCCATCTGCTG CCTGTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM6_chr5_123084241_123199266	123089108	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG03942.hp2 HG00408.hp2 HG03942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0081 a0003c0003t0004 a0003c0003t0081	a0003c0003t0004g0013 a0003c0003t0081g0129 a0003c0003t0004g0013 a0003c0003t0081g0129	2	312	0.0064	-34	c.-42 others(43): Show c.-426_-393delCTCTCTCTCTCTCTCTCTCACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		132		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089110	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02486.hp1 NA18963.hp1 others(1): Show HG02129.hp2 HG02486.hp1 NA18963.hp1 NA18977.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 others(1): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 a0003c0003t0016	a0002c0002t0001g0254 a0003c0003t0001g0102 a0003c0003t0004g0014 others(1): Show a0002c0002t0001g0254 a0003c0003t0001g0102 a0003c0003t0004g0014 a0003c0003t0016g0008	4	312	0.0128	-34	c.-42 others(43): Show c.-424_-391delCTCTCTCTCTCTCTCTCACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		130		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089112	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18994.hp1 NA18966.hp2 NA18994.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0131 a0003c0003t0004g0022 a0001c0001t0001g0131 a0003c0003t0004g0022	2	312	0.0064	-34	c.-42 others(43): Show c.-422_-389delCTCTCTCTCTCTCTCACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		128		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089114	TCTCTCTC others(27): Show TCTCTCTCTCTCTCACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01433.hp2 HG01346.hp1 HG01433.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0010 a0001c0001t0001 a0002c0002t0010	a0001c0001t0001g0152 a0002c0002t0010g0291 a0001c0001t0001g0152 a0002c0002t0010g0291	2	312	0.0064	-34	c.-42 others(43): Show c.-420_-387delCTCTCTCTCTCTCACACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		126		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089116	TCTCTCTC others(27): Show TCTCTCTCTCTCACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02083.hp2 HG01361.hp2 HG02083.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0051 a0002c0002t0001 a0003c0003t0051	a0002c0002t0001g0220 a0003c0003t0051g0120 a0002c0002t0001g0220 a0003c0003t0051g0120	2	312	0.0064	-34	c.-41 others(43): Show c.-418_-385delCTCTCTCTCTCACACACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		124		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089118	TCTCTCTC others(27): Show TCTCTCTCTCACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18977.hp1 NA19081.hp1 NA18970.hp1 NA18977.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0079 a0001c0001t0001 a0003c0003t0079	a0001c0001t0001g0173 a0001c0001t0001g0203 a0003c0003t0079g0115 a0001c0001t0001g0173 a0001c0001t0001g0203 a0003c0003t0079g0115	3	312	0.0096	-34	c.-41 others(43): Show c.-416_-383delCTCTCTCTCACACACACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		122		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089120	TCTCTCTC others(27): Show TCTCTCTCACACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02273.hp2 HG02280.hp2 HG00735.hp2 HG02273.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0084 a0002c0002t0002 a0002c0002t0084	a0002c0002t0002g0011 a0002c0002t0084g0247 a0002c0002t0002g0011 a0002c0002t0084g0247	3	312	0.0096	-34	c.-41 others(43): Show c.-414_-381delCTCTCTCACACACACACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		120		chr5	TogoVar
PRDM6_chr5_123084241_123199266	123089122	TCTCTCAC others(27): Show TCTCTCACACACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01169.hp1 others(8): Show HG00642.hp1 HG01069.hp1 HG01169.hp1 HG01256.hp2 HG02257.hp1 HG02602.hp2 HG02895.hp1 HG02965.hp2 HG04199.hp2 NA18945.hp1 NA18968.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0003c0003 a0002c0002 a0002c0006 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0006t0066 a0003c0003t0094	a0002c0002t0001g0256 a0002c0002t0001g0265 a0002c0002t0002g0236 others(8): Show a0002c0002t0001g0256 a0002c0002t0001g0265 a0002c0002t0002g0236 a0002c0002t0002g0257 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0009g0242 a0002c0002t0009g0262 a0002c0002t0009g0264 a0002c0006t0066g0024 a0003c0003t0094g0086	11	312	0.0353	-34	c.-41 others(43): Show c.-412_-379delCTCTCACACACACACACACACACACACACACACA	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding		118		chr5	TogoVar
PRDM7_chr16_90051566_90082331	90052467	TCTCTGTA others(27): Show TCTCTGTAGACCGGCCGGAACCACTGCCTGGTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	-34	c.57 others(45): Show c.5788_*5821delTTCACCAGGCAGTGGTTCCGGCCGGTCTACAGAG	PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding		4098		chr16	TogoVar
PRDM7_chr16_90051566_90082331	90052925	CTGTAGAC others(27): Show CTGTAGACCGGCCGGAACCACTGCCTGGTGAATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	392	0.0026	-34	c.53 others(45): Show c.5330_*5363delAGATTCACCAGGCAGTGGTTCCGGCCGGTCTACA	PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding		3640		chr16	TogoVar
PRDX5_chr11_64313121_64326811	64317765	TTGCCACA others(27): Show TTGCCACAAATTCTTCGTAAGATGCAAATCATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	386	0.0026	-34	c.-45 others(43): Show c.-450_-417delTGCCACAAATTCTTCGTAAGATGCAAATCATATG	PRDX5	ENSG00000126432.14	transcript	ENST00000265462.9	protein_coding		355		chr11	TogoVar
PREP_chr6_105268218_105408082	105374632	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02735.hp1 HG02886.hp2 HG01515.hp2 HG02735.hp1 HG02886.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0009 a0003c0010 a0002c0003 a0003c0009 a0003c0010	a0002c0003t0005 a0003c0009t0040 a0003c0010t0004 a0002c0003t0005 a0003c0009t0040 a0003c0010t0004	a0002c0003t0005g0076 a0003c0009t0040g0126 a0003c0010t0004g0114 a0002c0003t0005g0076 a0003c0009t0040g0126 a0003c0010t0004g0114	3	212	0.0142	-34	c.386 others(51): Show c.386-1088_386-1055delTATATATATATATATATATATATATATA TATATA	PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	4/14			chr6	TogoVar
PREP_chr6_105268218_105408082	105402418	TCACACAC others(27): Show TCACACACACACACACACACACACACACACAAACA	T T	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0023 a0002c0003t0003g0023	1	212	0.0047	-34	c.45+ others(47): Show c.45+395_45+428delTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	PREP	ENSG00000085377.15	transcript	ENST00000652536.2	protein_coding	1/14			chr6	TogoVar
PREX1_chr20_48619252_48832999	48706941	TCAGAACA others(27): Show TCAGAACATCACCTGTCCAAGCTCAGGCTCCAGGA	T T	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0152 a0004c0004t0001g0152	1	268	0.0037	-34	c.783 others(51): Show c.783+1285_783+1318delTCCTGGAGCCTGAGCTTGGACAGGTGAT GTTCTG	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	6/39			chr20	TogoVar
PREX1_chr20_48619252_48832999	48746941	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	268	0.0037	-34	c.291 others(49): Show c.291+834_291+867delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	2/39			chr20	TogoVar
PREX2_chr8_67947046_68242032	67948268	TGGCTGTT others(27): Show TGGCTGTTTATTTTACTGGGATGATTGTAGATTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG03471.hp2 HG02572.hp1 HG02809.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0002 a0001c0013t0003 a0001c0013t0038 a0001c0002t0002 a0001c0013t0003 a0001c0013t0038	a0001c0002t0002g0137 a0001c0013t0003g0138 a0001c0013t0038g0139 a0001c0002t0002g0137 a0001c0013t0003g0138 a0001c0013t0038g0139	3	190	0.0158	-34	c.-41 others(45): Show c.-4126_-4093delGGCTGTTTATTTTACTGGGATGATTGTAGATTAA	PREX2	ENSG00000046889.19	transcript	ENST00000288368.5	protein_coding		3777		chr8	TogoVar
PRICKLE1_chr12_42451757_42594746	42527939	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18984.hp2 NA19065.hp1 HG02040.hp2 NA18984.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0022 a0001c0003t0024 a0001c0001t0002 a0001c0001t0022 a0001c0003t0024	a0001c0001t0002g0098 a0001c0001t0022g0291 a0001c0003t0024g0086 a0001c0001t0002g0098 a0001c0001t0022g0291 a0001c0003t0024g0086	3	300	0.0100	-34	c.-48 others(53): Show c.-48-55409_-48-55376delGATATATATATATATATATATATATA TATATATA	PRICKLE1	ENSG00000139174.12	transcript	ENST00000345127.9	protein_coding	1/7			chr12	TogoVar
PRIM1_chr12_56726580_56757323	56756382	AGTGCAGC others(27): Show AGTGCAGCTCGCTGCCAGCAGTCATTTAATTTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	336	0.0030	-34	c.-41 others(45): Show c.-4118_-4085delGTAAAATTAAATGACTGCTGGCAGCGAGCTGCAC	PRIM1	ENSG00000198056.16	transcript	ENST00000338193.11	protein_coding		4060		chr12	TogoVar
PRKAG1_chr12_48997274_49023776	49018967	GGAGCCGC others(27): Show GGAGCCGCTTGTATTTAAAATGTTCTTTTTTTATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	314	0.0032	-34	c.-26 others(43): Show c.-261_-228delAATAAAAAAAGAACATTTTAAATACAAGCGGCTC	PRKAG1	ENSG00000181929.13	transcript	ENST00000548065.7	protein_coding		192		chr12	TogoVar
PRKAG2_chr7_151551127_151882115	151855018	CCACACAC others(27): Show CCACACACACCATGCTCCACACACACCGCCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	252	0.0040	-34	c.114 others(53): Show c.114+21455_114+21488delTGGAGGGCGGTGTGTGTGGAGCATGG TGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAR2B_chr7_107039705_107166811	107158166	GAGTAAAG others(27): Show GAGTAAAGGTGAGTGAGTGAAAGTCTATTAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	282	0.0036	-34	c.112 others(51): Show c.1123+872_1123+905delGAAATAGTAAAGGTGAGTGAGTGAAAGT CTATTA	PRKAR2B	ENSG00000005249.14	transcript	ENST00000265717.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKCA_chr17_66297613_66815743	66790055	TTCAGAAG others(27): Show TTCAGAAGCATCGCCCTGTTGGTTTCGCTCAAATG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	178	0.0056	-34	c.185 others(53): Show c.1854+1078_1854+1111delCAGAAGCATCGCCCTGTTGGTTTCGC TCAAATGT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCB_chr16_23830983_24225611	23865497	ATATATAT others(27): Show ATATATATATATATATATATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0062 a0001c0003t0007g0063 a0001c0003t0007g0062 a0001c0003t0007g0063	2	148	0.0135	-34	c.205 others(53): Show c.205+28093_205+28126delATATATATATATATATATATGTGTGT GTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865499	ATATATAT others(27): Show ATATATATATATATATATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG04199.hp2 HG03041.hp1 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0009 a0001c0007t0022 a0001c0004t0009 a0001c0007t0022	a0001c0004t0009g0026 a0001c0007t0022g0089 a0001c0004t0009g0026 a0001c0007t0022g0089	2	148	0.0135	-34	c.205 others(53): Show c.205+28095_205+28128delATATATATATATATATATGTGTGTGT GTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865501	ATATATAT others(27): Show ATATATATATATATATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03017.hp1 HG00423.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0046 a0001c0008t0016 a0001c0001t0046 a0001c0008t0016	a0001c0001t0046g0029 a0001c0008t0016g0124 a0001c0001t0046g0029 a0001c0008t0016g0124	2	148	0.0135	-34	c.205 others(53): Show c.205+28097_205+28130delATATATATATATATATGTGTGTGTGT GTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23865507	ATATATAT others(27): Show ATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	148	0.0068	-34	c.205 others(53): Show c.205+28103_205+28136delATATATATATGTGTGTGTGTGTGTGT GTGTGTGT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCE_chr2_45646675_46192990	45884954	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02109.hp2 others(4): Show HG01168.hp1 HG01169.hp1 HG02109.hp2 HG02257.hp2 HG02622.hp2 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0002g0037 a0001c0001t0002g0113 others(4): Show a0001c0001t0001g0001 a0001c0001t0002g0037 a0001c0001t0002g0113 a0001c0001t0003g0072 a0001c0001t0004g0063 a0001c0001t0007g0096 a0001c0003t0001g0073	7	168	0.0417	-34	c.412 others(53): Show c.412+41906_412+41939delATATATATATATATATATATATATAT ATATATAT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKD1_chr14_29571479_29932847	29826810	TATACACA others(27): Show TATACACATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02165.hp1 NA20300.hp1 HG01175.hp1 HG02165.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0062 a0001c0001t0003g0151 a0001c0002t0001g0101 a0001c0001t0002g0062 a0001c0001t0003g0151 a0001c0002t0001g0101	3	156	0.0192	-34	c.264 others(55): Show c.264+100405_264+100438delGTGTGTATATATATATATATATAT ATATGTGTAT	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PRKG1_chr10_51069487_52303350	51553933	TATTAGAT others(27): Show TATTAGATACGTGTATATAATATATGTATGTATTA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp1 HG01496.hp1 others(10): Show HG00738.hp1 HG01123.hp1 HG01496.hp1 HG02258.hp1 HG02896.hp2 HG02976.hp1 HG03225.hp1 HG03579.hp2 HG03688.hp1 NA18522.hp1 NA18522.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003 a0001c0005t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0019 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0002g0063 a0001c0001t0003g0029 a0001c0001t0004g0035 a0001c0001t0005g0031 a0001c0001t0006g0011 a0001c0001t0009g0039 a0001c0001t0010g0042 a0001c0002t0002g0025 a0001c0002t0003g0014 a0001c0005t0002g0037	13	64	0.2031	-34	c.592 others(53): Show c.592+86098_592+86131delATTAGATACGTGTATATAATATATGT ATGTATTA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17			chr10	TogoVar
PRKG1_chr10_51069487_52303350	51743711	AATATATA others(27): Show AATATATATATATATAATATAAACTAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02922.hp2 HG02965.hp2 others(1): Show HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015	a0001c0001t0003g0009 a0001c0001t0003g0023 a0001c0001t0008g0027 others(1): Show a0001c0001t0003g0009 a0001c0001t0003g0023 a0001c0001t0008g0027 a0001c0001t0015g0010	4	64	0.0625	-34	c.593 others(53): Show c.593-60858_593-60825delATATAAACTAAATATATATATATATA TATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51858263	ATATAATA others(27): Show ATATAATATTATACATATGTATAATTATACATATG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	64	0.0156	-34	c.699 others(53): Show c.699-49235_699-49202delTATACATATGTATAATTATACATATG TATAATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161573739	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	32	0.0313	-34	c.872 others(51): Show c.872-4357_872-4324delATATATATATATATATATTTTTTTTTTT TTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161573741	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02976.hp1 HG03041.hp1 others(2): Show HG02602.hp1 HG02976.hp1 HG03041.hp1 HG03516.hp2 NA18522.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0009	a0001c0001t0003 a0001c0001t0008 a0001c0003t0001 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0003t0001 a0002c0002t0009 a0004c0009t0011	a0001c0001t0003g0021 a0001c0001t0008g0010 a0001c0003t0001g0025 others(2): Show a0001c0001t0003g0021 a0001c0001t0008g0010 a0001c0003t0001g0025 a0002c0002t0009g0008 a0004c0009t0011g0031	5	32	0.1563	-34	c.872 others(51): Show c.872-4359_872-4326delATATATATATATATATATATTTTTTTTT TTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161573743	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0014 a0001c0008t0010g0014	1	32	0.0313	-34	c.872 others(51): Show c.872-4361_872-4328delATATATATATATATATATATATTTTTTT TTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161573747	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	32	0.0313	-34	c.872 others(51): Show c.872-4365_872-4332delATATATATATATATATATATATATATTT TTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161680726	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18522.hp1 HG02976.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0021 a0001c0003t0001g0025 a0001c0001t0003g0021 a0001c0003t0001g0025	2	32	0.0625	-34	c.871 others(55): Show c.871+105012_871+105045delATATATATATATATATATATATAT ATATATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162380469	GTGTGTAT others(27): Show GTGTGTATATATATGTATATATACACACATATATA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0031 a0004c0009t0011g0031	1	32	0.0313	-34	c.171 others(53): Show c.171+62807_171+62840delTATATATGTGTGTATATATACATATA TATACACA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162380475	ATATATAT others(27): Show ATATATATGTATATATACACACATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG02258.hp1 others(8): Show HG01192.hp1 HG01192.hp2 HG02258.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03704.hp1 NA18522.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0004t0001 a0002c0002t0009 a0006c0010t0005	a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0002g0024 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0002g0024 a0001c0001t0003g0021 a0001c0001t0004g0029 a0001c0001t0006g0003 a0001c0001t0008g0010 a0001c0001t0014g0012 a0001c0004t0001g0006 a0002c0002t0009g0008 a0006c0010t0005g0013	11	32	0.3438	-34	c.171 others(53): Show c.171+62801_171+62834delCACACATATATATGTGTGTATATATA CATATATA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PROB1_chr5_139385592_139400104	139388596	GAGGGACT others(27): Show GAGGGACTGGGAGGCAGGGCCTCAGGACTGCTGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	348	0.0029	-34	c.34 others(45): Show c.3404_*3437delAGCAGCAGTCCTGAGGCCCTGCCTCCCAGTCCCT	PROB1	ENSG00000228672.4	transcript	ENST00000434752.4	protein_coding		1995		chr5	TogoVar
PROCA1_chr17_28698197_28716888	28702591	ACCCACAG others(27): Show ACCCACAGCACAGCTGCCCCATCCGCCCATGCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	320	0.0031	-34	c.93 others(43): Show c.933_*966delCAGGCATGGGCGGATGGGGCAGCTGTGCTGTGGG	PROCA1	ENSG00000167525.16	transcript	ENST00000682792.1	protein_coding		605		chr17	TogoVar
PROK1_chr1_110446149_110462358	110458039	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00597.hp1 others(75): Show HG00099.hp1 HG00099.hp2 HG00597.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01168.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02155.hp1 HG02257.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19067.hp2 NA19076.hp1 NA19081.hp1 NA19086.hp1 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0001t0001 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0027 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0005t0001g0003 a0001c0006t0001g0003	78	456	0.1711	-34	c.16 others(45): Show c.1689_*1722delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PROK1	ENSG00000143125.6	transcript	ENST00000271331.4	protein_coding		682		chr1	TogoVar
PROSER2_chr10_11818356_11877277	11840937	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02886.hp1 others(1): Show HG02630.hp1 HG02818.hp1 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0027 a0001c0001t0002 a0001c0001t0016 a0001c0001t0027	a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0016g0342 others(1): Show a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0016g0342 a0001c0001t0027g0245	4	348	0.0115	-34	c.-81 others(53): Show c.-81-11058_-81-11025delAAAAAAAAAAAAAAAAAATATATATA TATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840939	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02717.hp1 others(1): Show HG02055.hp2 HG02572.hp2 HG02717.hp1 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0011 a0003c0006t0010 a0003c0004t0011 a0003c0006t0010	a0003c0004t0011g0154 a0003c0004t0011g0156 a0003c0004t0011g0206 others(1): Show a0003c0004t0011g0154 a0003c0004t0011g0156 a0003c0004t0011g0206 a0003c0006t0010g0325	4	348	0.0115	-34	c.-81 others(53): Show c.-81-11056_-81-11023delAAAAAAAAAAAAAAAATATATATATA TATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840941	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0150 a0003c0006t0010g0150	1	348	0.0029	-34	c.-81 others(53): Show c.-81-11054_-81-11021delAAAAAAAAAAAAAATATATATATATA TATATATA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11847033	TGAGCCAC others(27): Show TGAGCCACCACTCCCAGCCTGTCCAGGGTTTTACC	T T	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0337 a0001c0001t0002g0337	1	348	0.0029	-34	c.-81 others(51): Show c.-81-4963_-81-4930delGAGCCACCACTCCCAGCCTGTCCAGGGT TTTACC	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3			chr10	TogoVar
PROZ_chr13_113153648_113177386	113154178	GGGAGGAG others(27): Show GGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG04199.hp1 HG00099.hp1 HG01074.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0001 a0001c0001t0001g0101	3	378	0.0079	-34	c.-44 others(45): Show c.-4482_-4449delGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4469		chr13	TogoVar

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Search Results (Total: 3456 hits)