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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PCSK4_chr19_1476428_1495350	1493709	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	400	0.0025	27	c.-33 others(38): Show c.-3364_-3363insGTGTGTGTGTGTGTGTGTGTGTGTGTG		PCSK4	ENSG00000115257.15	transcript	ENST00000300954.10	protein_coding					3360		chr19	TogoVar
PCSK5_chr9_75885673_76367975	76351447	G G	GAAAGGAA others(20): Show GAAAGGAAAGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 NA20129.hp1 HG01071.hp1 HG01106.hp2 NA20129.hp1	a0002 a0007 a0013 a0002 a0007 a0013	a0002c0016 a0007c0072 a0013c0087 a0002c0016 a0007c0072 a0013c0087	a0002c0016t0020 a0007c0072t0003 a0013c0087t0040 a0002c0016t0020 a0007c0072t0003 a0013c0087t0040	a0002c0016t0020g0057 a0007c0072t0003g0158 a0013c0087t0040g0098 a0002c0016t0020g0057 a0007c0072t0003g0158 a0013c0087t0040g0098	3	166	0.0181	27	c.506 others(44): Show c.5067+519_5067+520insAAAGGAAAGAAGAAAGAAAGAAAGAAA		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37						chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311661	C C	CACCCTCA others(20): Show CACCCTCACAGCTCACCCCATCATCACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0030 a0002c0017t0001g0030	1	336	0.0030	27	c.269 others(46): Show c.2699+1714_2699+1715insTGTGATGATGGGGTGAGCTGTGAGGG T		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311661	C C	CACCCTCA others(20): Show CACCCTCACAGCTCACCCCATCATTACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0023 a0002c0008t0002g0023	1	336	0.0030	27	c.269 others(46): Show c.2699+1714_2699+1715insTGTAATGATGGGGTGAGCTGTGAGGG T		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311686	C C	CACCCTCA others(20): Show CACCCTCACAGCCCACCCCATCGTCACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0077 a0004c0014t0001g0077	1	336	0.0030	27	c.269 others(46): Show c.2699+1689_2699+1690insTGTGACGATGGGGTGGGCTGTGAGGG T		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21						chr15	TogoVar
PCSK6_chr15_101298933_101494707	101489563	G G	GGCGCCCC others(20): Show GGCGCCCCCCGCGCCCCCCGCGCCCCCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19088.hp1 NA19088.hp1	a0010 a0010	a0010c0065 a0010c0065	a0010c0065t0004 a0010c0065t0004	a0010c0065t0004g0322 a0010c0065t0004g0322	1	336	0.0030	27	c.81_ others(33): Show c.81_107dupGGGGGGCGCGGGGGGCGCGGGGGGCGC	p.Ala others(38): Show p.Ala36_Gly37insGlyGlyAlaGlyGlyAlaGlyGlyAla	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	1/22	144/4272	107/2910	36/969			chr15	TogoVar
PCYT1A_chr3_196229368_196292726	196249784	T T	TCAGATAC others(20): Show TCAGATACACCATGCCGAGGCTGAGGAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19057.hp2 NA19011.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0036 a0001c0001t0001g0037	2	310	0.0065	27	c.218 others(44): Show c.218-1488_218-1462dupGTCCTCAGCCTCGGCATGGTGTATCTG		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8						chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196249799	C C	CGAGGCTG others(20): Show CGAGGCTGAGGACCAGATACACTATGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(82): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02683.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18939.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19090.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0058 a0001c0003t0005	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0020g0095 a0001c0001t0020g0096 a0001c0001t0029g0092 a0001c0001t0033g0017 a0001c0001t0038g0074 a0001c0001t0039g0019 a0001c0001t0040g0085 a0001c0001t0049g0087 a0001c0001t0051g0094 a0001c0001t0052g0130 a0001c0001t0054g0068 a0001c0001t0058g0080 a0001c0003t0005g0059	85	310	0.2742	27	c.218 others(44): Show c.218-1503_218-1477dupAGCATAGTGTATCTGGTCCTCAGCCTC		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8						chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196250264	C C	CCAGATAC others(20): Show CCAGATACACCATGCCGAGGCTGAGGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG02257.hp2 HG02895.hp1 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0013g0111 others(1): Show a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0013g0112	4	310	0.0129	27	c.218 others(44): Show c.218-1942_218-1941insATCCTCAGCCTCGGCATGGTGTATCTG		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8						chr3	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0161 a0001c0002t0072g0161	1	260	0.0039	27	c.117 others(44): Show c.117+9497_117+9498insATATATATATATATATATATTTTTTTT		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7						chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24648449	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0189 a0001c0002t0003g0189	1	260	0.0039	27	c.-13 others(38): Show c.-1345_-1344insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding					1103		chrX	TogoVar
PDCD6_chr5_266646_319974	298726	A A	ACCCAGCT others(20): Show ACCCAGCTGCTCCACCCAGCTGCTCCCC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0304 a0002c0003t0001g0304	1	360	0.0028	27	c.164 others(44): Show c.164-5439_164-5438insACCCAGCTGCTCCCCCCCAGCTGCTCC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCD6_chr5_266646_319974	298822	C C	CCAGCTGC others(20): Show CCAGCTGCTCCCCCCCAGCTGCTCCCCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 NA18906.hp1 others(1): Show HG02451.hp2 HG02486.hp2 NA18906.hp1 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0265 a0002c0004t0003g0266 a0002c0004t0003g0267 others(1): Show a0002c0004t0003g0265 a0002c0004t0003g0266 a0002c0004t0003g0267 a0002c0004t0003g0268	4	360	0.0111	27	c.164 others(44): Show c.164-5354_164-5353insAGCTGCTCCCCCCCAGCTGCTCCCCGC		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCL2_chr4_55551519_55597245	55571686	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	376	0.0027	27	c.219 others(44): Show c.219-1826_219-1825insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDCL2	ENSG00000163440.12	transcript	ENST00000295645.9	protein_coding	3/5						chr4	TogoVar
PDE10A_chr6_165322289_165668241	165542612	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA20300.hp1 HG02698.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0170 a0001c0004t0002g0149 a0001c0001t0002g0170 a0001c0004t0002g0149	2	222	0.0090	27	c.994 others(42): Show c.994+827_994+828insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21						chr6	TogoVar
PDE11A_chr2_177618244_178077777	177819860	T T	TTCTCTTC others(20): Show TTCTCTTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0096 a0001c0001t0025g0096	1	170	0.0059	27	c.157 others(44): Show c.1576+359_1576+360insGAGAGAGAGAGAGAGAGAGAGAAGAGA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	7/19						chr2	TogoVar
PDE11A_chr2_177618244_178077777	177819860	T T	TTCTCTTT others(20): Show TTCTCTTTCTCTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0017 a0001c0024t0017	a0001c0024t0017g0044 a0001c0024t0017g0044	1	170	0.0059	27	c.157 others(44): Show c.1576+359_1576+360insGAGAGAGAGAGAGAGAAGAGAAAGAGA		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	7/19						chr2	TogoVar
PDE3A_chr12_20363537_20693583	20612602	T T	TTATATAA others(20): Show TTATATAAGTAACTATATATAAAAGTAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0051 a0001c0001t0090g0051	1	198	0.0051	27	c.101 others(44): Show c.1012-820_1012-819insAAGTAATATATAAGTAACTATATATAA		PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20623628	T T	TTATGATG others(20): Show TTATGATGGATATATTCTAGAAAGAATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0076 a0002c0004t0076	a0002c0004t0076g0029 a0002c0004t0076g0029	1	198	0.0051	27	c.154 others(46): Show c.1540+2336_1540+2362dupATATTCTAGAAAGAATATATGATGGA T		PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20623659	G G	GATGGATA others(20): Show GATGGATATATTCTAGAAAGAATATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03579.hp1 HG02886.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0098 a0002c0002t0121 a0001c0001t0098 a0002c0002t0121	a0001c0001t0098g0121 a0002c0002t0121g0044 a0001c0001t0098g0121 a0002c0002t0121g0044	2	198	0.0101	27	c.154 others(46): Show c.1540+2274_1540+2275insTATGGATATATTCTAGAAAGAATATA T		PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20623763	A A	ATATGATG others(20): Show ATATGATGGATGTATTCTAGAAAGAATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02886.hp1 HG03486.hp1 others(1): Show HG01934.hp1 HG02886.hp1 HG03486.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0072 a0001c0001t0098 a0002c0002t0118 others(1): Show a0001c0001t0072 a0001c0001t0098 a0002c0002t0118 a0002c0002t0121	a0001c0001t0072g0014 a0001c0001t0098g0121 a0002c0002t0118g0180 others(1): Show a0001c0001t0072g0014 a0001c0001t0098g0121 a0002c0002t0118g0180 a0002c0002t0121g0044	4	198	0.0202	27	c.154 others(46): Show c.1540+2405_1540+2431dupTTTATGATGGATGTATTCTAGAAAGA A		PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3B_chr11_14638804_14877044	14700407	A A	ACAGGAAA others(20): Show ACAGGAAAAATAAAAAAATTGAGGTATG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG03225.hp1 others(2): Show HG02647.hp2 HG03098.hp1 HG03225.hp1 HG03486.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0001c0008 a0007c0009 a0001c0004 a0001c0008 a0007c0009	a0001c0004t0002 a0001c0004t0005 a0001c0008t0002 others(1): Show a0001c0004t0002 a0001c0004t0005 a0001c0008t0002 a0007c0009t0005	a0001c0004t0002g0182 a0001c0004t0005g0330 a0001c0004t0005g0331 others(2): Show a0001c0004t0002g0182 a0001c0004t0005g0330 a0001c0004t0005g0331 a0001c0008t0002g0230 a0007c0009t0005g0329	5	332	0.0151	27	c.978 others(46): Show c.978+55355_978+55356insAGGAAAAATAAAAAAATTGAGGTATG C		PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE4B_chr1_65787895_66379574	65887247	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	118	0.0085	27	c.-70 others(46): Show c.-70-25996_-70-25995insCTTTCTTTCTTTCTTTCTTTCTTTCT T		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4D_chr5_58964038_59898726	59434087	T T	TCTCATCT others(20): Show TCTCATCTTTAGGATGTTCCTAAAGAAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	74	0.0135	27	c.456 others(48): Show c.456-218146_456-218120dupCTTCTTTAGGAACATCCTAAAGAT GAG		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE4D_chr5_58964038_59898726	59649904	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	74	0.0135	27	c.455 others(48): Show c.455+243263_455+243264insAAAAAAAAAAAAAAAAAAAAAAAA AAA		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149889081	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0056 a0001c0009t0056	a0001c0009t0056g0109 a0001c0009t0056g0109	1	328	0.0031	27	c.172 others(46): Show c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTTTTTTTTT T		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	13/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149906519	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp2 HG02293.hp2 others(1): Show HG01192.hp2 HG01255.hp2 HG02293.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0160 a0001c0001t0001g0183 a0001c0001t0002g0162 others(1): Show a0001c0001t0001g0160 a0001c0001t0001g0183 a0001c0001t0002g0162 a0001c0001t0004g0163	4	328	0.0122	27	c.106 others(44): Show c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	7/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149920942	A A	AAAAGAAA others(20): Show AAAAGAAAGAAAGAAAGAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0313 a0001c0002t0034g0313	1	328	0.0031	27	c.933 others(42): Show c.933+692_933+693insCTTTCTTCTTTCTTTCTTTCTTTCTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	5/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149920942	A A	AAAAGAAA others(20): Show AAAAGAAAGAAAGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0326 a0001c0005t0001g0326	1	328	0.0031	27	c.933 others(42): Show c.933+692_933+693insCTTTCTTTCTTTCTTCTTTCTTTCTTT		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	5/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0281 a0001c0002t0064g0281	1	328	0.0031	27	c.858 others(44): Show c.858+2796_858+2797insAAAAAAAAAAATATATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19012.hp2 NA18949.hp1 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0290 a0001c0002t0001g0291	2	328	0.0061	27	c.858 others(44): Show c.858+2796_858+2797insAAAAAAAAAAAAATATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01981.hp2 HG03453.hp2 HG01928.hp2 HG01981.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0034 a0001c0002 a0001c0034	a0001c0002t0001 a0001c0002t0078 a0001c0034t0003 a0001c0002t0001 a0001c0002t0078 a0001c0034t0003	a0001c0002t0001g0239 a0001c0002t0078g0268 a0001c0034t0003g0319 a0001c0002t0001g0239 a0001c0002t0078g0268 a0001c0034t0003g0319	3	328	0.0092	27	c.858 others(44): Show c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE6A_chr5_149852953_149949793	149928231	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0306 a0001c0002t0011g0306	1	328	0.0031	27	c.858 others(44): Show c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATATATA		PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	4/21						chr5	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0010 a0001c0001t0038g0010	1	248	0.0040	27	c.139 others(46): Show c.139-15364_139-15363insAAAAAAAAATATATATATATATATAT A		PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12						chr8	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01891.hp1 others(11): Show HG00099.hp2 HG00597.hp1 HG01891.hp1 HG01978.hp2 HG02056.hp2 HG02129.hp1 HG02647.hp1 HG03669.hp2 NA18747.hp2 NA19011.hp1 NA19067.hp1 NA19081.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0092 others(11): Show a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0311 a0001c0002t0001g0318	14	344	0.0407	27	c.173 others(46): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA A		PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18998.hp2 HG02027.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0113 a0001c0001t0006g0239 a0001c0001t0006g0113 a0001c0001t0006g0239	2	314	0.0064	27	c.116 others(46): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT T		PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0301 a0001c0002t0002g0301	1	324	0.0031	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATATATATATATTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA19064.hp2 HG01515.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0251 a0001c0003t0003g0011 a0001c0001t0001g0251 a0001c0003t0003g0011	2	324	0.0062	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATATATATTTTTTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03927.hp2 HG02300.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0028 a0001c0002t0003g0013 a0001c0002t0003g0028	2	324	0.0062	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATATATTTTTTTTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0303 a0001c0002t0001g0303	1	324	0.0031	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATATTTTTTTTTTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	324	0.0031	27	c.263 others(44): Show c.263-5145_263-5144insATATATATATTTTTTTTTTTTTTTTTT		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFD_chr11_103902189_104169147	104134178	A A	AGATATAA others(20): Show AGATATAACTAAATACCCCTGTATTTAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG01256.hp2 others(29): Show HG00323.hp1 HG00408.hp1 HG01256.hp2 HG01891.hp2 HG02040.hp1 HG02109.hp2 HG02145.hp2 HG02622.hp2 HG02809.hp2 HG02970.hp2 HG03471.hp2 HG03579.hp2 HG03688.hp2 HG06807.hp2 NA18949.hp2 NA18964.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp2 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0002t0001 a0001c0002t0005 a0001c0002t0012	a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0109 others(29): Show a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0003g0074 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0140 a0001c0001t0003g0148 a0001c0001t0011g0116 a0001c0001t0016g0117 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0114 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0005g0108 a0001c0002t0005g0188 a0001c0002t0012g0147	32	200	0.1600	27	c.124 others(46): Show c.124+29625_124+29626insCTAAATACAGGGGTATTTAGTTATAT C		PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6						chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02165.hp1 HG02015.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0320 a0001c0002t0001g0322	2	400	0.0050	27	c.-17 others(36): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding					133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01515.hp1 others(4): Show HG01081.hp1 HG01106.hp2 HG01515.hp1 HG03710.hp1 HG03942.hp2 NA18957.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0063 a0001c0002t0001g0113 a0001c0002t0001g0114 others(4): Show a0001c0001t0001g0063 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0181 a0001c0002t0001g0255 a0001c0002t0001g0280 a0001c0002t0004g0112	7	400	0.0175	27	c.353 others(42): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAAA		PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(20): Show TCCCCGCCCCCCCCACCCCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02622.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0040 a0001c0004t0001g0226 a0001c0001t0001g0040 a0001c0004t0001g0226	2	400	0.0050	27	c.940 others(42): Show c.940-710_940-709insCCCCCCACCCCCCCCCCACCCCCCGCC		PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA4_chr7_148998062_149033505	149017620	T T	TACATTTT others(20): Show TACATTTTATCAAAATAAAATTAAATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	352	0.0028	27	c.475 others(44): Show c.475+1371_475+1372insGTATTTAATTTTATTTTGATAAAATGT		PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding	3/9						chr7	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	258	0.0039	27	c.248 others(44): Show c.248+1708_248+1709insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95256982	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0027 a0002c0003t0001g0027	1	338	0.0030	27	c.533 others(44): Show c.533+6881_533+6882insCTTTCTTTCTTTCTTTCTTTCTTTCTT		PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6						chr10	TogoVar
PDLIM1_chr10_95232572_95296003	95257001	A A	AAGAAAAG others(20): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03669.hp1 NA19062.hp1 HG03225.hp2 HG03669.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0291 a0001c0002t0002g0303 a0001c0002t0002g0056 a0001c0002t0002g0291 a0001c0002t0002g0303	3	338	0.0089	27	c.533 others(44): Show c.533+6862_533+6863insCTTTTCTTTTCTTTTCTTTTCTTTTCT		PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6						chr10	TogoVar
PDLIM3_chr4_185495660_185540507	185497978	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0299 a0001c0002t0003g0299	1	412	0.0024	27	c.43 others(38): Show c.4315_*4316insTTTTTTTTTTTTTTTTTTTTTTTTTTT		PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding					2681		chr4	TogoVar

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