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
PCDHA13_chr5_140877124_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	260	0.0039	35	c.239 others(56): Show c.2395-32338_2395-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3			chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0099 a0004c0004t0001g0099	1	200	0.0050	35	c.239 others(56): Show c.2395-32338_2395-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3			chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	202	0.0050	35	c.238 others(56): Show c.2389-32338_2389-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3			chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	208	0.0048	35	c.239 others(56): Show c.2395-32338_2395-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3			chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0113 a0003c0007t0001g0113	1	212	0.0047	35	c.238 others(56): Show c.2386-32338_2386-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3			chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0003 a0001c0007t0001g0003	1	220	0.0046	35	c.235 others(56): Show c.2353-32338_2353-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3			chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0005 a0001c0006t0001g0005	1	236	0.0042	35	c.239 others(56): Show c.2395-32338_2395-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3			chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0003 a0007c0009t0001g0003	1	248	0.0040	35	c.235 others(56): Show c.2356-32338_2356-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3			chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0145 a0010c0009t0001g0145	1	258	0.0039	35	c.239 others(56): Show c.2395-32338_2395-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3			chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0006 a0008c0008t0006	a0008c0008t0006g0221 a0008c0008t0006g0221	1	256	0.0039	35	c.239 others(56): Show c.2395-32338_2395-32337insTATATATATATATATATATATATA TATATATATAT	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3			chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140946611	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0250 a0001c0003t0002g0250	1	280	0.0036	35	c.243 others(56): Show c.2433+17286_2433+17287insTATATATATATATATATATATATA TATATATATAT	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding	1/3			chr5	TogoVar
PCED1B_chr12_47074621_47241660	47217470	G G	GAAAAAGA others(28): Show GAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18978.hp2 NA19065.hp2 others(1): Show HG02056.hp1 NA18978.hp2 NA19065.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0117 others(1): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0002g0266	4	322	0.0124	35	c.-58 others(50): Show c.-58+782_-58+783insAAAAGAAAGAAAGAAAAAGAAAGAAAAAGA AGAAA	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	701973	C C	CAAAGAAA others(28): Show CAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0286 a0001c0001t0004g0286	1	366	0.0027	35	c.-41 others(46): Show c.-4187_-4186insAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG A	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding		3858		chr4	TogoVar
PCGF3_chr4_700832_775089	713215	T T	TGTGGCCT others(28): Show TGTGGCCTTGTGGGTCCTGTGTGTCTCATGGGAGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0075 a0001c0001t0063g0075	1	366	0.0027	35	c.-19 others(54): Show c.-190+7267_-190+7268insTCTCATGGGAGCCGTGGCCTTGTGGG TCCTGTGTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF6_chr10_103297796_103356140	103302452	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	372	0.0027	35	c.14 others(46): Show c.1452_*1453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PCGF6	ENSG00000156374.16	transcript	ENST00000369847.4	protein_coding		343		chr10	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 NA18961.hp1 NA18995.hp1 others(2): Show HG01169.hp1 NA18961.hp1 NA18995.hp1 NA18995.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 others(1): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0074	a0001c0002t0003g0279 a0001c0002t0003g0346 a0001c0002t0005g0079 others(2): Show a0001c0002t0003g0279 a0001c0002t0003g0346 a0001c0002t0005g0079 a0001c0002t0011g0306 a0001c0002t0074g0265	5	352	0.0142	35	c.94 others(46): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4047		chr14	TogoVar
PCNX4_chr14_60086923_60153221	60150039	A A	AATTATCA others(28): Show AATTATCAATATTAGTATATAGGGAATACTGTTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	1	308	0.0033	35	c.15 others(48): Show c.15818_*15819insATTATCAATATTAGTATATAGGGAATACTGTT CAT	PCNX4	ENSG00000126773.13	transcript	ENST00000406854.6	protein_coding		1819		chr14	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(28): Show ATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	342	0.0029	35	c.-50 others(46): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAATAATAATAATAATA A	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCOLCE2_chr3_142812874_142894083	142893993	A A	ATTATTAT others(28): Show ATTATTATTATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	342	0.0029	35	c.-50 others(46): Show c.-5098_-5097insAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATA A	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding		4911		chr3	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGAAT others(28): Show GATAGAATAGAATAGAACAGAATAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	274	0.0037	35	c.27 others(46): Show c.2795_*2796insATAGAATAGAATAGAACAGAATAGAATAGAATAG A	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGAAT others(28): Show GATAGAATAGAATAGAATAGAATAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01123.hp1 HG02145.hp2 others(12): Show HG00673.hp1 HG01123.hp1 HG02145.hp2 HG02148.hp2 HG02615.hp1 HG02895.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 NA18942.hp2 NA18959.hp1 NA18988.hp2 NA18992.hp2 NA19012.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0026 a0001c0001t0054	a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0002g0056 others(12): Show a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0002g0056 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0005g0107 a0001c0001t0006g0078 a0001c0001t0006g0098 a0001c0001t0006g0207 a0001c0001t0006g0238 a0001c0001t0006g0258 a0001c0001t0010g0154 a0001c0001t0010g0260 a0001c0001t0026g0155 a0001c0001t0054g0034	15	274	0.0547	35	c.27 others(46): Show c.2795_*2796insATAGAATAGAATAGAATAGAATAGAATAGAATAG A	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK2_chr20_17222040_17489578	17484865	G G	GATAGGAT others(28): Show GATAGGATAGAATAGAATAGAATAGAATAGAATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01891.hp2 others(1): Show HG01167.hp1 HG01169.hp2 HG01891.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0020 a0001c0001t0003 a0001c0001t0012 a0001c0001t0020	a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0012g0191 others(1): Show a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0012g0191 a0001c0001t0020g0058	4	274	0.0146	35	c.27 others(46): Show c.2795_*2796insATAGGATAGAATAGAATAGAATAGAATAGAATAG A	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding		288		chr20	TogoVar
PCSK4_chr19_1476428_1495350	1479763	T T	TTGTTATT others(28): Show TTGTTATTTTCGTTTTGTTTTGTTGTTTGTTTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01358.hp1 HG01243.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0120 a0001c0001t0001g0081 a0001c0001t0001g0120	2	400	0.0050	35	c.19 others(46): Show c.1995_*1996insCAACAAACAAACAACAAAACAAAACGAAAATAAC A	PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding		1664		chr19	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(28): Show TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	372	0.0027	35	c.13 others(46): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT C	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PCYOX1_chr2_70253137_70286185	70283096	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0006 a0001c0003t0006g0006	1	424	0.0024	35	c.57 others(46): Show c.5704_*5705insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding		1912		chr2	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03654.hp1 HG01884.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0101 a0001c0001t0001g0111	2	260	0.0077	35	c.117 others(52): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01943.hp1 HG02280.hp2 others(4): Show HG01069.hp1 HG01943.hp1 HG02280.hp2 HG02615.hp2 NA18962.hp1 NA18967.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 a0001c0001t0052	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0008g0116 a0001c0001t0019g0109 a0001c0001t0019g0110 a0001c0001t0052g0066	7	260	0.0269	35	c.117 others(52): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0053 a0001c0001t0018g0053	1	260	0.0039	35	c.117 others(52): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PDCD6_chr5_266646_319974	318048	T T	TACCTCCC others(28): Show TACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01346.hp2 HG01074.hp2 HG01346.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0288 a0002c0003t0001g0289	2	360	0.0056	35	c.35 others(46): Show c.3533_*3534insACCTCCCCCCACCCTCCATCTGCCCCCAACCCTG C	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3075		chr5	TogoVar
PDC_chr1_186438566_186466114	186455994	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATGCATGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG02451.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0070 a0001c0001t0003g0071	2	404	0.0050	35	c.-25 others(52): Show c.-25+5064_-25+5065insGCATGCATATATATATATATATATATAT ATTTTTT	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDE3A_chr12_20363537_20693583	20637430	T T	TTCGAATG others(28): Show TTCGAATGACTCGAATGTCAAGTGAGTCGAATTTTA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0185 a0001c0001t0083g0185	1	198	0.0051	35	c.213 others(52): Show c.2139+193_2139+194insTCGAATGACTCGAATGTCAAGTGAGTCG AATTTTA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	9/15			chr12	TogoVar
PDE6A_chr5_149852953_149949793	149876941	A A	AGATAGAT others(28): Show AGATAGATAGATACATAGATACATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03540.hp1 HG02647.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0017 a0001c0001t0017 a0001c0002t0017	a0001c0001t0017g0179 a0001c0002t0017g0279 a0001c0001t0017g0179 a0001c0002t0017g0279	2	328	0.0061	35	c.213 others(54): Show c.2135+6487_2135+6488insATCTATCTATCTATGTATCTATGTAT CTATCTATC	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	17/21			chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(28): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0030 a0002c0011t0030	a0002c0011t0030g0208 a0002c0011t0030g0208	1	328	0.0031	35	c.858 others(52): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21			chr5	TogoVar
PDE6B_chr4_620573_675782	649609	A A	AAGGCCTG others(28): Show AAGGCCTGGGAAGACTGTTCGCTGGTGGACCCACAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19091.hp1 NA18969.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0258 a0001c0001t0003g0191 a0001c0001t0002g0258 a0001c0001t0003g0191	2	308	0.0065	35	c.712 others(52): Show c.712-4208_712-4174dupGAGGCCTGGGAAGACTGTTCGCTGGTGG ACCCACA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6H_chr12_14968042_14986865	14982038	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0073 a0001c0002t0005g0073	1	448	0.0022	35	c.56 others(44): Show c.562_*563insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PDE6H	ENSG00000139053.3	transcript	ENST00000266395.3	protein_coding		174		chr12	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19088.hp1 HG03490.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0160 a0001c0001t0001g0095 a0001c0001t0001g0160	2	344	0.0058	35	c.173 others(54): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE9A_chr21_42648621_42780509	42653528	A A	AGGGAGGG others(28): Show AGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0318 a0001c0002t0001g0318	1	324	0.0031	35	c.-28 others(44): Show c.-287_-286insGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGGAGGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		92		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	324	0.0031	35	c.263 others(52): Show c.263-5145_263-5144insATATATATATATATATTTTTTTTTTTTT TTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFD_chr11_103902189_104169147	104119404	A A	AATATATT others(28): Show AATATATTGATATAATATATAATATATTGATATAAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	200	0.0050	35	c.124 others(54): Show c.124+44399_124+44400insATTATATCAATATATTATATATTATA TCAATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	400	0.0025	35	c.-17 others(44): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18612.hp2 HG01515.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0071 a0001c0002t0001g0180 a0001c0001t0002g0071 a0001c0002t0001g0180	2	400	0.0050	35	c.353 others(50): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA2_chr16_278164_292215	285908	C C	CCCCAACC others(28): Show CCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02572.hp2 HG02896.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0031 a0014c0021t0001g0031	2	436	0.0046	35	c.111 others(52): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285966	T T	TCCCAACC others(28): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp2 HG01261.hp2 HG01361.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0020 a0010c0018t0001g0020	2	436	0.0046	35	c.111 others(52): Show c.1119+272_1119+273insAACCCCGCGGTTCTCCCAACCCCAACCC CAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	332	0.0030	35	c.609 others(52): Show c.609+1076_609+1077insATATATATATATATATATATATATATAT ATATATA	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16			chr3	TogoVar
PDILT_chr16_20354175_20409737	20402290	A A	ATCTTTTC others(28): Show ATCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02148.hp1 HG02809.hp2 others(7): Show HG01081.hp2 HG02148.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG03225.hp2 HG03516.hp2 NA18522.hp1 NA19030.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0021 others(1): Show a0001c0001 a0002c0004 a0002c0021 a0004c0006	a0001c0001t0001 a0002c0004t0001 a0002c0004t0002 others(3): Show a0001c0001t0001 a0002c0004t0001 a0002c0004t0002 a0002c0021t0001 a0004c0006t0001 a0004c0006t0003	a0001c0001t0001g0108 a0002c0004t0001g0057 a0002c0004t0001g0058 others(7): Show a0001c0001t0001g0108 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0116 a0002c0004t0001g0299 a0002c0004t0001g0300 a0002c0004t0002g0022 a0002c0021t0001g0301 a0004c0006t0001g0056 a0004c0006t0003g0098	10	406	0.0246	35	c.-8+ others(50): Show c.-8+2205_-8+2206insAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	1/11			chr16	TogoVar
PDLIM1_chr10_95232572_95296003	95256994	G G	GAAAGAAA others(28): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01175.hp1 HG01981.hp1 others(9): Show HG00597.hp1 HG01175.hp1 HG01981.hp1 HG01993.hp1 HG02083.hp2 HG02293.hp2 HG02300.hp2 NA18985.hp2 NA18989.hp2 NA19007.hp1 NA19075.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0068 a0001c0002t0002g0135 others(8): Show a0001c0002t0002g0009 a0001c0002t0002g0068 a0001c0002t0002g0135 a0001c0002t0002g0143 a0001c0002t0002g0165 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0282 a0001c0002t0002g0287 a0001c0002t0002g0289	12	338	0.0355	35	c.533 others(52): Show c.533+6869_533+6870insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGGAGG others(28): Show GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19054.hp2 NA19088.hp1 HG00673.hp2 NA19054.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205	3	440	0.0068	35	c.-11 others(50): Show c.-11-486_-11-485insTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDS5A_chr4_39817863_39982911	39909040	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01978.hp2 HG03579.hp1 others(1): Show HG00323.hp1 HG01978.hp2 HG03579.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0010 a0001c0002t0003 a0001c0002t0010	a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0168 others(1): Show a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0168 a0001c0002t0010g0129	4	356	0.0112	35	c.108 others(52): Show c.1088-535_1088-501dupATTTTATTTTATTTTATTTTATTTTATT TTATTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	334	0.0030	35	c.313 others(52): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATTTT	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(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	334	0.0030	35	c.313 others(52): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar

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