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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDLIM1_chr10_95232572_95296003	95256986	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18942.hp2 HG01975.hp2 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0105 a0002c0003t0001g0295 a0001c0001t0001g0105 a0002c0003t0001g0295	2	338	0.0059	21	c.533 others(38): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTC	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95256998	G G	GAAAAGAA others(14): Show GAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0187	1	338	0.0030	21	c.533 others(38): Show c.533+6865_533+6866insTCTTTTCTTTTCTTTTCTTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM2_chr8_22575475_22599298	22592077	C C	CTTTTCTT others(14): Show CTTTTCTTTTCTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0070 a0002c0003t0002g0070	1	380	0.0026	21	c.881 others(36): Show c.881+413_881+414insCTTTTCTTTTCTTTTTTTTTT	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDLIM2_chr8_22575475_22599298	22599018	T T	TTCCCTCC others(14): Show TTCCCTCCTCTCGCCCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG03209.hp1 HG03453.hp2 others(3): Show HG01099.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0019c0022	a0001c0001t0002 a0001c0002t0002 a0002c0004t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0002c0004t0002 a0019c0022t0006	a0001c0001t0002g0082 a0001c0001t0002g0097 a0001c0002t0002g0257 others(3): Show a0001c0001t0002g0082 a0001c0001t0002g0097 a0001c0002t0002g0257 a0002c0004t0002g0202 a0002c0004t0002g0222 a0019c0022t0006g0274	6	380	0.0158	21	c.51 others(32): Show c.5108_*5109insTCCCTCCTCTCGCCCCTCCCC	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding		4721		chr8	TogoVar
PDLIM2_chr8_22575475_22599298	22599271	T T	TTCCTCGC others(14): Show TTCCTCGCCCCTCCCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG03486.hp1 others(2): Show HG02258.hp1 HG02886.hp1 HG03486.hp1 HG03579.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0002 a0002c0004t0002 a0001c0001t0002 a0001c0002t0002 a0002c0004t0002	a0001c0001t0002g0146 a0001c0001t0002g0250 a0001c0001t0002g0264 others(2): Show a0001c0001t0002g0146 a0001c0001t0002g0250 a0001c0001t0002g0264 a0001c0002t0002g0249 a0002c0004t0002g0240	5	380	0.0132	21	c.53 others(32): Show c.5361_*5362insTCCTCGCCCCTCCCCTCCCTC	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding		4974		chr8	TogoVar
PDLIM7_chr5_177478394_177502604	177497048	G G	GGGGAGGG others(14): Show GGGGAGGGGAGGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	440	0.0023	21	c.-12 others(36): Show c.-12+479_-12+480insTCCTCCCTCCCCTCCCCTCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 NA18944.hp2 HG01934.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0042 a0001c0001t0006g0001 a0001c0001t0001g0042 a0001c0001t0006g0001	2	184	0.0109	21	c.-46 others(32): Show c.-4683_-4682insTTTTTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAGTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0160 a0001c0002t0003g0160	1	356	0.0028	21	c.139 others(38): Show c.139-2083_139-2082insAAAAAAAACTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0153 a0001c0002t0003g0153	1	356	0.0028	21	c.139 others(38): Show c.139-2083_139-2082insAAAAAAAAACTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0333 a0001c0001t0052g0333	1	334	0.0030	21	c.313 others(38): Show c.313-2864_313-2863insATATATATATATATATATATT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0331 a0001c0001t0010g0331	1	334	0.0030	21	c.313 others(38): Show c.313-2864_313-2863insATATATATATATATATATTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	334	0.0030	21	c.313 others(38): Show c.313-2864_313-2863insATATATATATATATATTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0297 a0001c0001t0008g0297	1	334	0.0030	21	c.313 others(38): Show c.313-2864_313-2863insATATATATATATTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	334	0.0030	21	c.313 others(38): Show c.313-2864_313-2863insATATATATTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655375	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp2 NA18979.hp2 others(2): Show NA18945.hp2 NA18946.hp2 NA18979.hp2 NA18995.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0056 a0001c0001t0002 a0001c0001t0004 a0001c0001t0056	a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0315 others(2): Show a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0315 a0001c0001t0004g0182 a0001c0001t0056g0183	5	334	0.0150	21	c.313 others(38): Show c.313-2864_313-2863insATATATATATATATATATATA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34			chr13	TogoVar
PDS5B_chr13_32581452_32783019	32733985	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0282 a0001c0002t0011g0282	1	334	0.0030	21	c.224 others(40): Show c.2248-1187_2248-1186insCACACACACACACACACACAC	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	20/34			chr13	TogoVar
PDSS1_chr10_26692701_26751798	26697566	C C	CCGGACCG others(14): Show CCGGACCGCAAGCGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG01192.hp1 HG00639.hp1 HG01175.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0018 a0001c0001t0001g0295 a0001c0001t0001g0296	3	416	0.0072	21	c.-14 others(30): Show c.-146_-145insCGGACCGCAAGCGAGGAAGAG	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		134		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00609.hp1 others(38): Show HG00140.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02148.hp2 HG02293.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04199.hp1 NA18941.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18955.hp2 NA18963.hp2 NA18987.hp2 NA18998.hp2 NA19058.hp2 NA19064.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(31): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0114 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0387	41	416	0.0986	21	c.163 others(36): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	260	0.0039	21	c.104 others(42): Show c.1042-18816_1042-18796dupTTTTTTTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107458412	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0233 a0001c0001t0005g0233	1	260	0.0039	21	c.296 others(36): Show c.296+577_296+578insTTTTTTTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984496	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0060 a0002c0004t0003g0060	1	279	0.0036	21	c.21+ others(36): Show c.21+9276_21+9277insATATATATATATATATATATA	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22			chr16	TogoVar
PDXDC1_chr16_14970026_15043332	15032668	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0022 a0006c0008t0022	a0006c0008t0022g0087 a0006c0008t0022g0087	1	279	0.0036	21	c.157 others(38): Show c.1572-192_1572-191insAAAAAAAAAAAAAAAAAAAGA	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GCGGGGGG others(14): Show GCGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0333 a0002c0004t0017g0333	1	358	0.0028	21	c.143 others(36): Show c.143-516_143-515insCGGGGGGCTCGCGGGGGGCTC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10			chr21	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(14): Show GGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	358	0.0028	21	c.143 others(36): Show c.143-497_143-496insCTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGCT others(14): Show GGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0035 a0001c0001t0020g0035	1	358	0.0028	21	c.143 others(36): Show c.143-474_143-473insCTCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741315	G G	GGGGGGCT others(14): Show GGGGGGCTCGCGGGGGGCGGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0174 a0001c0002t0003g0174	1	358	0.0028	21	c.143 others(36): Show c.143-347_143-346insCTCGCGGGGGGCGGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGCT others(14): Show GGGGGGCTCGCGGGGGCCTCGC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0324 a0003c0006t0006g0324	1	358	0.0028	21	c.143 others(36): Show c.143-220_143-219insCTCGCGGGGGCCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	216	0.0046	21	c.-36 others(42): Show c.-361+49917_-361+49918insATATATATATATTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0178 a0009c0014t0004g0178	1	216	0.0046	21	c.-36 others(42): Show c.-361+49917_-361+49918insATATATATTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31752067	G G	GGTTTTTT others(14): Show GGTTTTTTTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0043 a0001c0010t0043	a0001c0010t0043g0034 a0001c0010t0043g0034	1	216	0.0046	21	c.-36 others(42): Show c.-360-46821_-360-46820insTTTTTTTTTTGTTTTGTTTTG	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31816287	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02818.hp1 others(3): Show HG01884.hp2 HG01891.hp1 HG02818.hp1 HG03453.hp2 NA18906.hp1 NA20752.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0018 a0026 a0029	a0001c0001 a0002c0002 a0005c0045 others(3): Show a0001c0001 a0002c0002 a0005c0045 a0018c0060 a0026c0046 a0029c0052	a0001c0001t0002 a0002c0002t0008 a0005c0045t0038 others(3): Show a0001c0001t0002 a0002c0002t0008 a0005c0045t0038 a0018c0060t0014 a0026c0046t0014 a0029c0052t0003	a0001c0001t0002g0036 a0002c0002t0008g0175 a0005c0045t0038g0176 others(3): Show a0001c0001t0002g0036 a0002c0002t0008g0175 a0005c0045t0038g0176 a0018c0060t0014g0204 a0026c0046t0014g0157 a0029c0052t0003g0003	6	216	0.0278	21	c.476 others(40): Show c.476+16578_476+16579insAAAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31844940	G G	GAACAAGT others(14): Show GAACAAGTTTCTTTAAACAAGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	216	0.0046	21	c.476 others(40): Show c.476+45230_476+45250dupAAACAAGAAACAAGTTTCTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18944.hp2 NA18986.hp2 others(1): Show HG00597.hp2 NA18944.hp2 NA18986.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0003c0008 a0002c0003 a0003c0004 a0003c0008	a0002c0003t0002 a0003c0004t0004 a0003c0004t0012 others(1): Show a0002c0003t0002 a0003c0004t0004 a0003c0004t0012 a0003c0008t0012	a0002c0003t0002g0132 a0003c0004t0004g0113 a0003c0004t0012g0013 others(1): Show a0002c0003t0002g0132 a0003c0004t0004g0113 a0003c0004t0012g0013 a0003c0008t0012g0030	4	216	0.0185	21	c.477 others(40): Show c.477-13640_477-13620dupAAAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32054312	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0046 a0006c0015t0046	a0006c0015t0046g0005 a0006c0015t0046g0005	1	216	0.0046	21	c.190 others(38): Show c.1900+435_1900+455dupTTTTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101019542	G G	GCCTCCTC others(14): Show GCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01346.hp1 others(2): Show HG00738.hp2 HG01081.hp2 HG01346.hp1 HG03942.hp1 HG04228.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004	a0001c0001t0001g0063 a0001c0001t0003g0062 a0003c0003t0001g0408 others(2): Show a0001c0001t0001g0063 a0001c0001t0003g0062 a0003c0003t0001g0408 a0003c0003t0002g0418 a0003c0003t0004g0097	5	432	0.0116	21	c.929 others(36): Show c.929-346_929-326dupAGGAGGAGGAGGAGGAGGAGG	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	7/16			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117370953	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0047 a0001c0002t0008g0047	1	322	0.0031	21	c.872 others(38): Show c.872+3402_872+3403insCACACACACACACACACACAC	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZK1_chr1_145665985_145712368	145671817	T T	TAAGACTA others(14): Show TAAGACTAGGATATTGACTTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA20752.hp2 HG01123.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0230 a0001c0001t0001g0168 a0001c0001t0001g0230	2	322	0.0062	21	c.150 others(38): Show c.1507-349_1507-329dupGGAAGTCAATATCCTAGTCTT	PDZK1	ENSG00000174827.14	transcript	ENST00000417171.6	protein_coding	8/8			chr1	TogoVar
PDZRN3_chr3_73377431_73629941	73489575	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	1	216	0.0046	21	c.919 others(40): Show c.919-85181_919-85180insAAAAAAAAAAAAAAAAAAAAA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73563014	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18993.hp2 NA18522.hp1 NA18993.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0001 a0001c0009t0001 a0001c0008t0001 a0001c0009t0001	a0001c0008t0001g0098 a0001c0009t0001g0038 a0001c0008t0001g0098 a0001c0009t0001g0038	2	216	0.0093	21	c.918 others(40): Show c.918+39339_918+39340insTATATATATATATATATATAT	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18612.hp2 NA18945.hp2 others(10): Show HG00621.hp2 NA18612.hp2 NA18945.hp2 NA18966.hp2 NA18978.hp1 NA18998.hp2 NA19000.hp2 NA19010.hp2 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19070.hp2 NA19080.hp1	a0006 a0010 a0023 a0006 a0010 a0023	a0006c0006 a0006c0023 a0006c0052 others(3): Show a0006c0006 a0006c0023 a0006c0052 a0010c0054 a0010c0055 a0023c0053	a0006c0006t0003 a0006c0023t0002 a0006c0052t0002 others(3): Show a0006c0006t0003 a0006c0023t0002 a0006c0052t0002 a0010c0054t0001 a0010c0055t0001 a0023c0053t0001	a0006c0006t0003g0022 a0006c0006t0003g0024 a0006c0006t0003g0025 others(10): Show a0006c0006t0003g0022 a0006c0006t0003g0024 a0006c0006t0003g0025 a0006c0006t0003g0026 a0006c0006t0003g0027 a0006c0006t0003g0029 a0006c0006t0003g0033 a0006c0023t0002g0030 a0006c0023t0002g0031 a0006c0052t0002g0028 a0010c0054t0001g0021 a0010c0055t0001g0032 a0023c0053t0001g0023	13	206	0.0631	21	c.843 others(38): Show c.843+3730_843+3731insTTTTTTTTTTTGTTTTGTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41206500	T T	TATTAAGC others(14): Show TATTAAGCTTAATTATTTATTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG02257.hp1 others(5): Show HG00738.hp1 HG01109.hp2 HG02257.hp1 HG02559.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG06807.hp2	a0001 a0004 a0013 others(1): Show a0001 a0004 a0013 a0017	a0001c0001 a0004c0009 a0013c0033 others(1): Show a0001c0001 a0004c0009 a0013c0033 a0017c0035	a0001c0001t0001 a0004c0009t0001 a0013c0033t0006 others(1): Show a0001c0001t0001 a0004c0009t0001 a0013c0033t0006 a0017c0035t0001	a0001c0001t0001g0084 a0001c0001t0001g0086 a0004c0009t0001g0095 others(5): Show a0001c0001t0001g0084 a0001c0001t0001g0086 a0004c0009t0001g0095 a0004c0009t0001g0096 a0004c0009t0001g0097 a0004c0009t0001g0098 a0013c0033t0006g0093 a0017c0035t0001g0094	8	206	0.0388	21	c.843 others(40): Show c.843+12327_843+12347dupTTTATTAATTAAGCTTAATTA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	206	0.0049	21	c.843 others(40): Show c.843+20262_843+20263insAAAAAAAAAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402488	T T	TATATATA others(14): Show TATATATATATATACACACTGA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0169	1	206	0.0049	21	c.844 others(42): Show c.844-103968_844-103967insATATATATATATACACACTGA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PEAK1_chr15_77103158_77425104	77226044	G G	GATATATA others(14): Show GATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp2 NA18980.hp2 HG01884.hp1 HG02976.hp2 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0054 a0002c0002t0003 a0002c0002t0004 a0001c0001t0054 a0002c0002t0003 a0002c0002t0004	a0001c0001t0054g0302 a0002c0002t0003g0233 a0002c0002t0004g0191 a0001c0001t0054g0302 a0002c0002t0003g0233 a0002c0002t0004g0191	3	326	0.0092	21	c.-11 others(42): Show c.-115+26322_-115+26323insATATATATATATTATATATAT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77420165	C C	CGCCCGCC others(14): Show CGCCCGCCCAGCCCACCAGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0263 a0001c0001t0007g0263	1	326	0.0031	21	c.-82 others(30): Show c.-826_-825insAGGCTGGTGGGCTGGGCGGGC	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding		62		chr15	TogoVar
PEAK3_chr19_2269631_2287175	2286021	T T	TGCCCTCC others(14): Show TGCCCTCCCCCGAGTGCACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0057 a0003c0003t0002g0057	1	454	0.0022	21	c.-39 others(32): Show c.-3940_-3939insGGGGTGCACTCGGGGGAGGGC	PEAK3	ENSG00000188305.6	transcript	ENST00000342063.5	protein_coding		3847		chr19	TogoVar
PEAR1_chr1_156888718_156921429	156892763	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 NA19003.hp2 HG03831.hp1 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0110 a0002c0002t0003g0003 a0002c0002t0003g0110	2	384	0.0052	21	c.-10 others(32): Show c.-1084_-1083insTTTTTTTTTTTTTTGTTTTTG	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding		954		chr1	TogoVar
PEAR1_chr1_156888718_156921429	156892764	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01257.hp2 HG02040.hp1 others(2): Show HG00621.hp2 HG01257.hp2 HG02040.hp1 HG03209.hp1 NA18998.hp2	a0002 a0007 a0027 a0002 a0007 a0027	a0002c0002 a0007c0014 a0027c0041 a0002c0002 a0007c0014 a0027c0041	a0002c0002t0003 a0002c0002t0018 a0007c0014t0005 others(1): Show a0002c0002t0003 a0002c0002t0018 a0007c0014t0005 a0027c0041t0003	a0002c0002t0003g0007 a0002c0002t0003g0077 a0002c0002t0018g0008 others(2): Show a0002c0002t0003g0007 a0002c0002t0003g0077 a0002c0002t0018g0008 a0007c0014t0005g0015 a0027c0041t0003g0084	5	384	0.0130	21	c.-10 others(32): Show c.-1083_-1082insTTTTTTTTTTTTTTGTTTTTG	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding		953		chr1	TogoVar
PEAR1_chr1_156888718_156921429	156911076	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00609.hp2 others(49): Show HG00323.hp1 HG00558.hp1 HG00609.hp2 HG00741.hp2 HG01081.hp2 HG01109.hp2 HG01361.hp2 HG01891.hp1 HG01952.hp2 HG02027.hp2 HG02040.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02572.hp1 HG02622.hp1 HG02735.hp2 HG02818.hp1 HG02965.hp1 HG03195.hp1 HG03516.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18956.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18975.hp2 NA18982.hp1 NA18984.hp1 NA18993.hp1 NA18994.hp1 NA19003.hp2 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0019 a0026 a0030	a0001c0001 a0001c0006 a0001c0013 others(13): Show a0001c0001 a0001c0006 a0001c0013 a0002c0002 a0002c0007 a0002c0008 a0002c0015 a0002c0017 a0002c0054 a0003c0005 a0003c0048 a0004c0004 a0004c0011 a0019c0040 a0026c0035 a0030c0034	a0001c0001t0001 a0001c0001t0021 a0001c0006t0005 others(18): Show a0001c0001t0001 a0001c0001t0021 a0001c0006t0005 a0001c0013t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0020 a0002c0007t0003 a0002c0007t0004 a0002c0008t0004 a0002c0015t0003 a0002c0017t0005 a0002c0054t0004 a0003c0005t0001 a0003c0048t0004 a0004c0004t0001 a0004c0004t0013 a0004c0011t0004 a0019c0040t0006 a0026c0035t0003 a0030c0034t0003	a0001c0001t0001g0037 a0001c0001t0001g0125 a0001c0001t0001g0130 others(40): Show a0001c0001t0001g0037 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0174 a0001c0001t0001g0199 a0001c0001t0021g0129 a0001c0006t0005g0079 a0001c0006t0005g0112 a0001c0013t0001g0157 a0001c0013t0001g0158 a0002c0002t0003g0003 a0002c0002t0003g0057 a0002c0002t0003g0073 a0002c0002t0003g0077 a0002c0002t0003g0092 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0116 a0002c0002t0004g0040 a0002c0002t0004g0239 a0002c0002t0004g0240 a0002c0002t0020g0003 a0002c0007t0003g0003 a0002c0007t0003g0255 a0002c0007t0004g0032 a0002c0007t0004g0135 a0002c0008t0004g0016 a0002c0008t0004g0040 a0002c0015t0003g0105 a0002c0017t0005g0089 a0002c0054t0004g0163 a0003c0005t0001g0194 a0003c0048t0004g0203 a0004c0004t0001g0144 a0004c0004t0001g0177 a0004c0004t0013g0062 a0004c0011t0004g0155 a0019c0040t0006g0108 a0026c0035t0003g0003 a0030c0034t0003g0070	52	384	0.1354	21	c.195 others(38): Show c.1951+350_1951+351insTTTCCTTTCTTTCTTTCTTTC	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEBP4_chr8_22708251_22932914	22708636	T T	TTGTTTGT others(14): Show TTGTTTGTTTGTTTTGTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00738.hp2 others(20): Show HG00099.hp1 HG00735.hp1 HG00738.hp2 HG01192.hp1 HG01257.hp2 HG01358.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02145.hp1 HG02486.hp2 HG02683.hp1 HG02738.hp1 HG03492.hp1 HG03579.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp1 NA18906.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0011	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0004c0003 a0004c0011 a0008c0015 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0005t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0005 a0002c0002t0001 a0002c0002t0002 a0004c0003t0003 a0004c0003t0004 a0004c0011t0006 a0008c0015t0005 a0011c0017t0011	a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0082 others(20): Show a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0125 a0001c0001t0002g0266 a0001c0005t0005g0020 a0002c0002t0001g0067 a0002c0002t0001g0121 a0002c0002t0001g0156 a0002c0002t0002g0230 a0002c0002t0002g0239 a0004c0003t0003g0074 a0004c0003t0003g0089 a0004c0003t0003g0116 a0004c0003t0003g0124 a0004c0003t0003g0130 a0004c0003t0003g0136 a0004c0003t0004g0213 a0004c0003t0004g0216 a0004c0003t0004g0226 a0004c0011t0006g0005 a0008c0015t0005g0003 a0011c0017t0011g0032	23	278	0.0827	21	c.47 others(32): Show c.4733_*4734insCAAAAACAAAACAAACAAACA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding		4614		chr8	TogoVar

Search by Variant

Search

Search Results