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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
PRTFDC1_chr10_24843614_24957606	24880813	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	338	0.0030	32	c.340 others(49): Show c.340-8782_340-8751dupAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRUNE2_chr9_76606376_76911114	76855082	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0011 a0011	a0011c0041 a0011c0041	a0011c0041t0001 a0011c0041t0001	a0011c0041t0001g0110 a0011c0041t0001g0110	1	240	0.0042	32	c.37- others(45): Show c.37-875_37-874insATATATATATATATATATTTTTTTTTTTTTTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76879903	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0012 a0005c0005t0002g0012	1	240	0.0042	32	c.37- others(49): Show c.37-25696_37-25695insAATATATATATATATATATATATATATA TATA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0142 a0005c0008t0003g0142	1	416	0.0024	32	c.870 others(49): Show c.870-1095_870-1094insATATATATATATATTTTTTTTTTTTTTT TTTT	PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD2_chr5_139790808_139849466	139830565	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	276	0.0036	32	c.127 others(51): Show c.1270-3134_1270-3133insCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD2_chr5_139790808_139849466	139830565	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0229	1	276	0.0036	32	c.127 others(51): Show c.1270-3134_1270-3133insCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD2_chr5_139790808_139849466	139830565	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	276	0.0036	32	c.127 others(51): Show c.1270-3134_1270-3133insCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD2_chr5_139790808_139849466	139830626	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01257.hp1 others(6): Show HG00280.hp2 HG00323.hp1 HG01257.hp1 HG01258.hp2 HG02015.hp1 HG02523.hp2 HG03017.hp1 HG03669.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0072 a0001c0001t0002g0061 a0001c0001t0002g0070 others(6): Show a0001c0001t0001g0072 a0001c0001t0002g0061 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0022g0074	9	276	0.0326	32	c.127 others(51): Show c.1270-3045_1270-3044insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD2_chr5_139790808_139849466	139830626	C C	CTTTCTCT others(25): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0059 a0001c0001t0023g0059	1	276	0.0036	32	c.127 others(51): Show c.1270-3075_1270-3074insTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18759078	T T	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01952.hp1 NA18965.hp2 others(2): Show HG01070.hp2 HG01952.hp1 NA18965.hp2 NA18998.hp1 NA19056.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0017 a0002c0032 others(1): Show a0001c0001 a0001c0017 a0002c0032 a0004c0021	a0001c0001t0054 a0001c0001t0057 a0001c0017t0005 others(2): Show a0001c0001t0054 a0001c0001t0057 a0001c0017t0005 a0002c0032t0046 a0004c0021t0001	a0001c0001t0054g0083 a0001c0001t0057g0065 a0001c0017t0005g0037 others(2): Show a0001c0001t0054g0083 a0001c0001t0057g0065 a0001c0017t0005g0037 a0002c0032t0046g0116 a0004c0021t0001g0112	5	228	0.0219	32	c.217 others(51): Show c.2172+6370_2172+6371insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18759092	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0062 a0009c0024t0062	a0009c0024t0062g0185 a0009c0024t0062g0185	1	228	0.0044	32	c.217 others(51): Show c.2172+6356_2172+6357insAGAGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	228	0.0044	32	c.22- others(49): Show c.22-13103_22-13102insATATATATATATATATATATATATATTT TTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151878	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0281 a0001c0001t0006g0281	1	378	0.0027	32	c.87+ others(47): Show c.87+3789_87+3790insATATATATATATATATATATATATATATAT AT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	430	0.0023	32	c.430 others(49): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSIP1_chr9_15459066_15515970	15501840	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp1 HG03041.hp2 HG01074.hp2 HG01884.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0280 a0001c0001t0005g0060 a0001c0001t0006g0012 a0001c0001t0003g0280 a0001c0001t0005g0060 a0001c0001t0006g0012	3	300	0.0100	32	c.149 others(49): Show c.149+4720_149+4721insATATATATATATATATATATATATATAT ATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15501866	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18982.hp2 NA18945.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0259 a0001c0001t0003g0260	2	300	0.0067	32	c.149 others(49): Show c.149+4694_149+4695insTTATATATATATATATATATATATATAT ATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSMA3_chr14_58239843_58277004	58254333	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01255.hp2 HG02040.hp2 others(24): Show HG00423.hp2 HG01255.hp2 HG02040.hp2 HG03098.hp2 HG03491.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18947.hp1 NA18951.hp2 NA18959.hp1 NA18971.hp1 NA18974.hp1 NA18978.hp1 NA19009.hp1 NA19059.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0003 a0001c0001t0001 a0002c0005t0003	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0039 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0005t0003g0149	27	332	0.0813	32	c.228 others(49): Show c.228+2101_228+2102insATATATATATATATATATATATATATAT ATAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	332	0.0030	32	c.228 others(49): Show c.228+2101_228+2102insATATATATATATATATATATATATGTAT GTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA5_chr1_109394042_109431448	109430641	C C	CTCTCCTT others(25): Show CTCTCCTTCATAGGTGCCAGACTTATATCACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	318	0.0031	32	c.-43 others(43): Show c.-4312_-4311insCTGTGATATAAGTCTGGCACCTATGAAGGAGA	PSMA5	ENSG00000143106.13	transcript	ENST00000271308.9	protein_coding		4194		chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640383	G G	GGAGGAAA others(25): Show GGAGGAAAGGGACGGAAAATCTGAAAACCAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	300	0.0033	32	c.91+ others(45): Show c.91+958_91+959insTTTTGGTTTTCAGATTTTCCGTCCCTTTCCTC	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTGT others(25): Show GTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	268	0.0037	32	c.571 others(49): Show c.571-1213_571-1212insGTTGTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(25): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18948.hp2 NA18954.hp1 others(2): Show HG02040.hp1 NA18948.hp2 NA18954.hp1 NA18998.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0002g0015 a0001c0001t0002g0053 others(2): Show a0001c0001t0001g0126 a0001c0001t0002g0015 a0001c0001t0002g0053 a0001c0001t0002g0080 a0001c0001t0002g0088	5	268	0.0187	32	c.571 others(49): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389912	T T	TTTTTTTT others(25): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	268	0.0037	32	c.571 others(49): Show c.571-1192_571-1191insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTA	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11			chr2	TogoVar
PSMD2_chr3_184294241_184314050	184309170	A A	ATGGAAAG others(25): Show ATGGAAAGAACTGAGCCCCTTCCCTCCCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA19005.hp1 NA18944.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	414	0.0048	32	c.28 others(41): Show c.280_*281insTGGAAAGAACTGAGCCCCTTCCCTCCCCTGGG	PSMD2	ENSG00000175166.17	transcript	ENST00000310118.9	protein_coding		121		chr3	TogoVar
PSME4_chr2_53859069_53975993	53868576	A A	AAATATAT others(25): Show AAATATATTTATAATATATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20129.hp2 HG02145.hp1 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0002 a0001c0006t0005g0004 a0001c0006t0005g0002 a0001c0006t0005g0004	2	384	0.0052	32	c.526 others(49): Show c.5263+799_5263+800insATAATATATATTATATATATTATAAATA TATT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	44/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0258 a0003c0004t0001g0258	1	384	0.0026	32	c.958 others(47): Show c.958-616_958-615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133555	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0178 a0001c0003t0005g0178	1	326	0.0031	32	c.366 others(49): Show c.366-1565_366-1564insGTGTATATATATATATATATATATATAT ATAT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	412	0.0024	32	c.174 others(49): Show c.174+1096_174+1097insATATATATATATATATATATTTTTTTTT TTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTAFR_chr1_28142166_28181690	28169943	T T	TGAGCCAA others(25): Show TGAGCCAAGATGACGCCATTGCACTGGAGTCTG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0011 a0002c0002t0021g0011	1	306	0.0033	32	c.-39 others(49): Show c.-39+6617_-39+6648dupCAGACTCCAGTGCAATGGCGTCATCTTG GCTC	PTAFR	ENSG00000169403.12	transcript	ENST00000373857.8	protein_coding	1/1			chr1	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 NA18994.hp1 HG01099.hp2 HG01109.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0297 a0001c0002t0001g0330 a0001c0002t0008g0292 a0001c0002t0001g0297 a0001c0002t0001g0330 a0001c0002t0008g0292	3	364	0.0082	32	c.905 others(49): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112302582	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0338 a0001c0001t0012g0338	1	342	0.0029	32	c.-51 others(49): Show c.-51-4667_-51-4666insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18965.hp2 HG02886.hp1 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0111 a0001c0005t0001g0149 a0001c0002t0001g0111 a0001c0005t0001g0149	2	370	0.0054	32	c.813 others(47): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GAGATATA others(25): Show GAGATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19056.hp1 NA19007.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0111 a0001c0001t0081 a0001c0001t0111	a0001c0001t0081g0127 a0001c0001t0111g0141 a0001c0001t0081g0127 a0001c0001t0111g0141	2	182	0.0110	32	c.899 others(49): Show c.899-2806_899-2805insATATATATATATATATATATATATATAT ATCT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTGER3_chr1_70965782_71052816	71020697	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	372	0.0027	32	c.898 others(49): Show c.898-8245_898-8214dupACACACACACACACACACACACACACAC ACAC	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	1/3			chr1	TogoVar
PTGER3_chr1_70965782_71052816	71025131	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	372	0.0027	32	c.898 others(51): Show c.898-12679_898-12648dupAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	1/3			chr1	TogoVar
PTGES2_chr9_128115693_128132729	128118599	A A	ACAGGAAT others(25): Show ACAGGAATGGAGGGATGGAAAAATAGAGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	366	0.0027	32	c.25 others(43): Show c.2545_*2546insCATCCCTCTATTTTTCCATCCCTCCATTCCTG	PTGES2	ENSG00000148334.16	transcript	ENST00000338961.11	protein_coding		2093		chr9	TogoVar
PTGES3L_chr17_42963103_42985080	42967395	A A	AATATATA others(25): Show AATATATAAAATATATATTATATAATATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	336	0.0030	32	c.17 others(43): Show c.1752_*1753insATTTTATATTATATAATATATATTTTATATAT	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		707		chr17	TogoVar
PTGES3L_chr17_42963103_42985080	42970674	G G	GCACACAC others(25): Show GCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0213 a0003c0003t0001g0213	1	336	0.0030	32	c.379 others(47): Show c.379-333_379-332insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding	5/6			chr17	TogoVar
PTGR1_chr9_111557567_111604647	111560974	T T	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	408	0.0025	32	c.21 others(43): Show c.2146_*2147insCTCTCTCTCTCTCTCTCTCTATATATATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1592		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111560974	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	408	0.0025	32	c.21 others(43): Show c.2146_*2147insCTCTATATATATATATATATATATATATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1592		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111561110	T T	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	408	0.0025	32	c.20 others(43): Show c.2010_*2011insCTCTCTCTATATATATATATATATATATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1456		chr9	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	420	0.0024	32	c.349 others(47): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTH2R_chr2_208401792_208499506	208408722	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 NA19043.hp2 others(1): Show HG02809.hp1 HG02896.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0004 a0001c0001t0001 a0001c0001t0003 a0002c0004t0004	a0001c0001t0001g0174 a0001c0001t0003g0175 a0002c0004t0004g0272 others(1): Show a0001c0001t0001g0174 a0001c0001t0003g0175 a0002c0004t0004g0272 a0002c0004t0004g0273	4	294	0.0136	32	c.75+ others(47): Show c.75+1621_75+1622insGAGAAAGAGAGAGAGAGAGAGAGAGAGAGA GA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	328	0.0031	32	c.-38 others(51): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAAAAAA TATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27414606	C C	CTCTCTCT others(25): Show CTCTCTCTGTGTGTGTGTGTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18968.hp2 NA18980.hp2 others(5): Show NA18949.hp2 NA18968.hp2 NA18980.hp2 NA18990.hp1 NA19003.hp1 NA19012.hp2 NA19074.hp1 NA19077.hp1	a0002 a0008 a0002 a0008	a0002c0003 a0002c0004 a0008c0020 a0002c0003 a0002c0004 a0008c0020	a0002c0003t0002 a0002c0004t0002 a0008c0020t0002 a0002c0003t0002 a0002c0004t0002 a0008c0020t0002	a0002c0003t0002g0012 a0002c0004t0002g0001 a0002c0004t0002g0011 others(3): Show a0002c0003t0002g0012 a0002c0004t0002g0001 a0002c0004t0002g0011 a0002c0004t0002g0013 a0002c0004t0002g0191 a0008c0020t0002g0014	8	328	0.0244	32	c.205 others(49): Show c.205-5288_205-5287insCTCTCTGTGTGTGTGTGTGTATGTGTGT GTGT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27414608	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp1 HG02258.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0006 a0001c0008 a0002c0006	a0001c0008t0003 a0002c0006t0001 a0001c0008t0003 a0002c0006t0001	a0001c0008t0003g0316 a0002c0006t0001g0287 a0001c0008t0003g0316 a0002c0006t0001g0287	2	328	0.0061	32	c.205 others(49): Show c.205-5274_205-5273insGTGTGTATGTGTGTGTGTTTGTGTGTGT GTGT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0131 a0004c0007t0001g0131	1	272	0.0037	32	c.272 others(51): Show c.2722-1452_2722-1451insATATATATATATATATATATATATTT TTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	296	0.0034	32	c.-1- others(49): Show c.-1-25726_-1-25725insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	296	0.0034	32	c.-2+ others(49): Show c.-2+19005_-2+19006insATATATATATATATATATATTTTTTTTT TTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTP4A2_chr1_31901421_31943368	31908170	A A	ATATTATA others(25): Show ATATTATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0168 a0001c0001t0168	a0001c0001t0168g0337 a0001c0001t0168g0337	1	354	0.0028	32	c.68 others(41): Show c.681_*682insATATATATATATATATATATATATATATAATA	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	681		chr1	TogoVar

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