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
PRKG1_chr10_51069487_52303350	51970709	C C	CTGATATA others(20): Show CTGATATATATATATCAGATATATCAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp1 HG03195.hp2 HG02622.hp2 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0014g0032 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0014g0032	3	64	0.0469	27	c.762 others(46): Show c.762+63141_762+63167dupGATATATATATATCAGATATATCAGA T	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161436327	A A	AGGCGGGA others(20): Show AGGCGGGATGGGAGGGCAGAGAGCAGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp1 HG02602.hp1 others(5): Show HG01192.hp2 HG02258.hp1 HG02602.hp1 HG02602.hp2 HG02922.hp1 HG03688.hp2 HG03704.hp1 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0003t0001 a0001c0003t0003 a0002c0002t0009 a0003c0005t0002	a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0006g0003 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0006g0003 a0001c0001t0014g0012 a0001c0003t0001g0025 a0001c0003t0003g0027 a0002c0002t0009g0008 a0003c0005t0002g0026	8	32	0.2500	27	c.108 others(48): Show c.1084-49451_1084-49450insCCCTGCTCTCTGCCCTCCCATCCC GCC	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	9/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161873955	T T	TTATATGT others(20): Show TTATATGTAAAATATAATATATAAAATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0004 a0003c0006t0003g0004	1	32	0.0313	27	c.735 others(46): Show c.735-88074_735-88048dupTATTTTATATATTATATTTTACATAT A	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161943953	T T	TCAGCCTT others(20): Show TCAGCCTTGAGGAAGCAGCCTGAGGAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01884.hp1 others(12): Show HG01192.hp1 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0003 a0001c0004t0001 a0001c0008t0010 a0002c0002t0004 a0002c0002t0009 a0003c0006t0003	a0001c0001t0001g0017 a0001c0001t0002g0005 a0001c0001t0002g0007 others(12): Show a0001c0001t0001g0017 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0024 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0004g0029 a0001c0001t0007g0020 a0001c0003t0003g0027 a0001c0004t0001g0001 a0001c0004t0001g0006 a0001c0008t0010g0014 a0002c0002t0004g0019 a0002c0002t0009g0008 a0003c0006t0003g0004	15	32	0.4688	27	c.734 others(46): Show c.734+29322_734+29348dupCTTCCTCAGGCTGCTTCCTCAAGGCT G	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162235961	G G	GAAAGAAA others(20): Show GAAAGAAAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0026 a0003c0005t0002g0026	1	32	0.0313	27	c.412 others(46): Show c.412+26563_412+26564insTCTTTCTTTCTTTCTTTCTTTTTCTT T	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	3/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162235965	G G	GAAAAAGA others(20): Show GAAAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	32	0.0313	27	c.412 others(46): Show c.412+26559_412+26560insTCTTTCTTTCTTTCTTTCTTTCTTTT T	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	3/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162235965	G G	GAAAGAAA others(20): Show GAAAGAAAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0014 a0001c0008t0010g0014	1	32	0.0313	27	c.412 others(46): Show c.412+26559_412+26560insTCTTTCTTTCTTTCTTTCTTTTTCTT T	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	3/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162584860	T T	TCCTCCCC others(20): Show TCCTCCCCTCCCCTGTCCCATCTCCTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01884.hp1 others(3): Show HG01192.hp2 HG01361.hp2 HG01884.hp1 HG02647.hp2 HG02976.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0002c0002t0004 a0002c0007t0013	a0001c0001t0001g0017 a0001c0001t0003g0021 a0001c0001t0007g0020 others(3): Show a0001c0001t0001g0017 a0001c0001t0003g0021 a0001c0001t0007g0020 a0002c0002t0001g0016 a0002c0002t0004g0019 a0002c0007t0013g0018	6	32	0.1875	27	c.8-1 others(44): Show c.8-141388_8-141387insGGAGGAGATGGGACAGGGGAGGGGAGG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162601321	T T	TTGAATGG others(20): Show TTGAATGGGGGATTGAATGGGGGTTGAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03688.hp1 HG02602.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0002 a0001c0001t0006g0003 a0001c0001t0005g0002 a0001c0001t0006g0003	2	32	0.0625	27	c.7+1 others(44): Show c.7+126340_7+126341insTTCAACCCCCATTCAATCCCCCATTCA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKRIP1_chr7_102391363_102431666	102431117	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0184 a0001c0001t0008g0184	1	382	0.0026	27	c.60 others(38): Show c.6006_*6007insGTGTGTGTGTGTGTGTGTGTGTGTGTG	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding		4452		chr7	TogoVar
PRKRIP1_chr7_102391363_102431666	102431142	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	382	0.0026	27	c.60 others(38): Show c.6031_*6032insGTGTGTGTGTGTGTGTGTGTGTGTGTG	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding		4477		chr7	TogoVar
PRKX_chrX_3599340_3718649	3613854	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0167 a0001c0001t0029g0167	1	227	0.0044	27	c.952 others(44): Show c.952-1530_952-1529insTTGTTTTTTTTTTTTTTTTTTTTTTTT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	7/8			chrX	TogoVar
PRLH_chr2_237561574_237572175	237565982	T T	TACCCAAT others(20): Show TACCCAATACACACAGACACATCTACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG04204.hp2 HG03942.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	404	0.0050	27	c.-59 others(36): Show c.-592_-591insACCCAATACACACAGACACATCTACAC	PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding		591		chr2	TogoVar
PRMT8_chr12_3486203_3598973	3490675	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	364	0.0028	27	c.-95 others(36): Show c.-951_-950insGAGAGAGAGAGAGAGAGAGAGAGAGAG	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding		527		chr12	TogoVar
PRMT8_chr12_3486203_3598973	3493561	G G	GGTGCAGA others(20): Show GGTGCAGACCCCTGCCAGGTTCCGCAGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0316 a0001c0001t0012g0316	1	364	0.0028	27	c.75+ others(42): Show c.75+1868_75+1894dupACCCCTGCCAGGTTCCGCAGTGTGCAG	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	364	0.0028	27	c.75+ others(42): Show c.75+4515_75+4516insATATATATATATATATATATATATTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0019 a0001c0001t0001g0049	2	364	0.0055	27	c.75+ others(42): Show c.75+4515_75+4516insATATATATATATATTTTTTTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496215	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18994.hp2 NA19084.hp1 NA18967.hp1 NA18994.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0134 a0001c0002t0002g0228 a0001c0003t0001g0076 a0001c0002t0002g0134 a0001c0002t0002g0228 a0001c0003t0001g0076	3	364	0.0082	27	c.75+ others(42): Show c.75+4515_75+4516insATATATATATATATATATATATATATA	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9			chr12	TogoVar
PRMT8_chr12_3486203_3598973	3558225	T T	TCTCCCCT others(20): Show TCTCCCCTTCCTCCCCTTCCTCCCCTTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0345 a0001c0002t0002g0345	1	364	0.0028	27	c.481 others(44): Show c.481+4514_481+4540dupCCCCTTCCTCCCCTTCCTCCCCTTCCT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRODH_chr22_18907781_18941293	18925945	C C	CGGGGCTC others(20): Show CGGGGCTCCTTGTGGGTGGAGAAATCAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19043.hp1 NA19043.hp2 HG02559.hp2 NA19043.hp1 NA19043.hp2	a0012 a0036 a0039 a0012 a0036 a0039	a0012c0029 a0036c0084 a0039c0086 a0012c0029 a0036c0084 a0039c0086	a0012c0029t0001 a0036c0084t0002 a0039c0086t0002 a0012c0029t0001 a0036c0084t0002 a0039c0086t0002	a0012c0029t0001g0122 a0036c0084t0002g0201 a0039c0086t0002g0266 a0012c0029t0001g0122 a0036c0084t0002g0201 a0039c0086t0002g0266	3	409	0.0073	27	c.483 others(42): Show c.483-250_483-224dupCTGATTTCTCCACCCACAAGGAGCCCC	PRODH	ENSG00000100033.17	transcript	ENST00000357068.11	protein_coding	2/13			chr22	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18953.hp1 NA19074.hp1 others(2): Show HG01943.hp2 NA18953.hp1 NA19074.hp1 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0134 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0254	5	348	0.0144	27	c.-81 others(44): Show c.-81-9065_-81-9039dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF31_chr19_54110754_54136713	54133749	T T	TCTCTCCA others(20): Show TCTCTCCACCTCCCCTCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	227	0.0044	27	c.23 others(38): Show c.2317_*2318insCTCTCCACCTCCCCTCTCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2037		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133749	T T	TCTCTCCA others(20): Show TCTCTCCACCTCCCCTCTCTCTTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	227	0.0044	27	c.23 others(38): Show c.2317_*2318insCTCTCCACCTCCCCTCTCTCTTCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2037		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133853	T T	TCTCTCTC others(20): Show TCTCTCTCTTCCTCCCTCTCCACCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	227	0.0044	27	c.24 others(38): Show c.2421_*2422insCTCTCTCTTCCTCCCTCTCCACCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2141		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133990	T T	TCCCTCTC others(20): Show TCCCTCTCTCCACCTTCCCTCTCTCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG03654.hp1 HG04199.hp2 HG00408.hp2 HG03654.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	3	227	0.0132	27	c.25 others(38): Show c.2558_*2559insCCCTCTCTCCACCTTCCCTCTCTCCAC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2278		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54134282	C C	CCTCCCTC others(20): Show CCTCCCTCCCTCTCTCCACCTTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	227	0.0044	27	c.28 others(38): Show c.2850_*2851insCTCCCTCCCTCTCTCCACCTTCCCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2570		chr19	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0348 a0001c0002t0001g0348	1	392	0.0026	27	c.582 others(42): Show c.582-989_582-988insATATATATATATATATATATATATTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	392	0.0026	27	c.582 others(42): Show c.582-989_582-988insATATATATATATATATATATATATATT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0212 a0002c0003t0003g0212	1	392	0.0026	27	c.582 others(42): Show c.582-989_582-988insATATATATATATATATATATATATATA	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPSAP2_chr17_18853131_18936287	18857609	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTGTATTTTTAGTAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0391 a0001c0001t0001g0391	1	392	0.0026	27	c.-78 others(36): Show c.-781_-780insTTTTTTTTTTTGTATTTTTAGTAGAGA	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding		521		chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18886151	T T	TAGCAAAT others(20): Show TAGCAAATGAACAAAAAATGAATTATTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0087 a0001c0002t0008g0087	1	392	0.0026	27	c.528 others(44): Show c.528+3468_528+3469insAGCAAATGAACAAAAAATGAATTATTC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11			chr17	TogoVar
PRR14L_chr22_31676347_31755132	31677600	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0004 a0010c0011t0004	a0010c0011t0004g0090 a0010c0011t0004g0090	1	316	0.0032	27	c.79 others(38): Show c.7926_*7927insATATATATATATATATATATATATATA	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3746		chr22	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0035 a0035	a0035c0040 a0035c0040	a0035c0040t0003 a0035c0040t0003	a0035c0040t0003g0060 a0035c0040t0003g0060	1	316	0.0032	27	c.79 others(38): Show c.7922_*7923insATATATATATTTTTTTTTTTTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0029 a0017c0020t0029	a0017c0020t0029g0300 a0017c0020t0029g0300	1	316	0.0032	27	c.79 others(38): Show c.7922_*7923insATATATATATATATATATATATATTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR5L_chr11_36291288_36470204	36351006	T T	TTTTTAAT others(20): Show TTTTTAATATATTTTTATATGTATTTTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01175.hp1 HG01192.hp2 others(8): Show HG00621.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG03017.hp2 NA18999.hp1 NA19004.hp2 NA19010.hp2 NA19091.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0016 a0001c0001 a0001c0002 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0010c0016t0007	a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 others(8): Show a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0220 a0001c0002t0001g0198 a0010c0016t0007g0259	11	272	0.0404	27	c.-12 others(48): Show c.-125-49990_-125-49989insTTTAATATATTTTTATATGTATTT TAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(20): Show CTTTCTTTTCTTTCTTTCTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp1 HG03041.hp1 HG01167.hp1 HG02451.hp1 HG03041.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0018 a0002c0006t0004 a0002c0006t0018	a0002c0006t0004g0160 a0002c0006t0004g0165 a0002c0006t0018g0164 a0002c0006t0004g0160 a0002c0006t0004g0165 a0002c0006t0018g0164	3	216	0.0139	27	c.-51 others(44): Show c.-51-9598_-51-9597insCTTTTCTTTCTTTCTTTTCTTTCTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569593	T T	TATATATA others(20): Show TATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0215 a0003c0002t0003g0215	1	336	0.0030	27	c.665 others(46): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT G	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34			chr1	TogoVar
PRRT1B_chr9_131540523_131564815	131555120	C C	CCTTGCAG others(20): Show CCTTGCAGAGGAGGAAACGCCACCTTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(311): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0014 a0015 a0016 a0017	a0001c0001 a0001c0005 a0001c0019 others(13): Show a0001c0001 a0001c0005 a0001c0019 a0002c0003 a0003c0004 a0004c0007 a0004c0008 a0005c0006 a0006c0009 a0007c0010 a0008c0011 a0010c0020 a0014c0015 a0015c0014 a0016c0013 a0017c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0005t0001 a0001c0005t0003 a0001c0019t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0009 a0002c0003t0013 a0002c0003t0015 a0002c0003t0016 a0002c0003t0018 a0002c0003t0023 a0002c0003t0029 a0002c0003t0030 a0002c0003t0054 a0003c0004t0007 a0003c0004t0035 a0004c0007t0002 a0004c0007t0009 a0004c0007t0027 a0004c0008t0004 a0005c0006t0007 a0005c0006t0014 a0005c0006t0022 a0005c0006t0032 a0005c0006t0034 a0005c0006t0036 a0006c0009t0016 a0006c0009t0044 a0007c0010t0020 a0008c0011t0002 a0010c0020t0005 a0014c0015t0019 a0015c0014t0009 a0016c0013t0004 a0017c0012t0055	a0001c0001t0001g0003 a0001c0001t0001g0118 a0001c0001t0001g0122 others(162): Show a0001c0001t0001g0003 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0151 a0001c0001t0002g0173 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0029 a0001c0001t0003g0063 a0001c0001t0003g0095 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0005g0003 a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0005g0062 a0001c0001t0005g0114 a0001c0001t0008g0004 a0001c0001t0008g0096 a0001c0001t0008g0109 a0001c0001t0008g0130 a0001c0001t0009g0007 a0001c0001t0011g0007 a0001c0001t0011g0110 a0001c0001t0012g0004 a0001c0001t0013g0002 a0001c0001t0013g0091 a0001c0001t0013g0098 a0001c0001t0015g0032 a0001c0001t0015g0052 a0001c0001t0015g0053 a0001c0001t0016g0031 a0001c0001t0019g0026 a0001c0001t0019g0042 a0001c0001t0023g0007 a0001c0001t0024g0007 a0001c0001t0026g0026 a0001c0001t0028g0025 a0001c0001t0031g0121 a0001c0001t0031g0124 a0001c0001t0033g0174 a0001c0001t0037g0138 a0001c0001t0038g0002 a0001c0001t0039g0061 a0001c0001t0040g0092 a0001c0001t0041g0032 a0001c0001t0042g0007 a0001c0001t0043g0106 a0001c0001t0045g0089 a0001c0001t0048g0132 a0001c0005t0001g0003 a0001c0005t0001g0016 a0001c0005t0001g0043 a0001c0005t0001g0120 a0001c0005t0003g0003 a0001c0019t0001g0056 a0002c0003t0001g0008 a0002c0003t0001g0022 a0002c0003t0001g0071 a0002c0003t0002g0006 a0002c0003t0002g0008 a0002c0003t0002g0015 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0033 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0064 a0002c0003t0002g0068 a0002c0003t0002g0072 a0002c0003t0002g0075 a0002c0003t0003g0014 a0002c0003t0003g0067 a0002c0003t0004g0006 a0002c0003t0004g0008 a0002c0003t0004g0015 a0002c0003t0004g0022 a0002c0003t0004g0069 a0002c0003t0004g0074 a0002c0003t0004g0077 a0002c0003t0005g0054 a0002c0003t0009g0006 a0002c0003t0009g0065 a0002c0003t0013g0006 a0002c0003t0015g0060 a0002c0003t0016g0055 a0002c0003t0018g0023 a0002c0003t0018g0038 a0002c0003t0023g0057 a0002c0003t0029g0023 a0002c0003t0029g0070 a0002c0003t0030g0076 a0002c0003t0030g0078 a0002c0003t0054g0073 a0003c0004t0007g0017 a0003c0004t0007g0018 a0003c0004t0007g0047 a0003c0004t0007g0111 a0003c0004t0007g0117 a0003c0004t0007g0137 a0003c0004t0007g0139 a0003c0004t0007g0140 a0003c0004t0007g0141 a0003c0004t0007g0142 a0003c0004t0035g0047 a0004c0007t0002g0009 a0004c0007t0002g0160 a0004c0007t0009g0009 a0004c0007t0009g0112 a0004c0007t0009g0116 a0004c0007t0027g0009 a0004c0008t0004g0009 a0004c0008t0004g0113 a0004c0008t0004g0133 a0005c0006t0007g0081 a0005c0006t0007g0082 a0005c0006t0014g0024 a0005c0006t0014g0040 a0005c0006t0014g0084 a0005c0006t0022g0039 a0005c0006t0032g0040 a0005c0006t0034g0085 a0005c0006t0036g0024 a0006c0009t0016g0083 a0006c0009t0016g0086 a0006c0009t0044g0087 a0007c0010t0020g0041 a0008c0011t0002g0004 a0010c0020t0005g0025 a0014c0015t0019g0042 a0015c0014t0009g0131 a0016c0013t0004g0066 a0017c0012t0055g0079	314	458	0.6856	27	c.498 others(40): Show c.498+92_498+93insTTGCAGAGGAGGAAACGCCACCTTGGC	PRRT1B	ENSG00000283526.2	transcript	ENST00000636672.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRT4_chr7_128345325_128366690	128364062	A A	AGGAGGGG others(20): Show AGGAGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0203 a0001c0003t0001g0203	1	448	0.0022	27	c.-26 others(38): Show c.-2692_-2691insCCCCCCCCCCCCCCCCCCCCCCCCTCC	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		2373		chr7	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19080.hp1 NA20905.hp1 NA18988.hp1 NA19080.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0153 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0153	3	356	0.0084	27	c.241 others(44): Show c.241+4969_241+4995dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS12_chr4_118275038_118358003	118316837	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0179 a0001c0004t0001g0179	1	364	0.0028	27	c.115 others(44): Show c.1151-515_1151-514insATATATATATATATATATATATTTTTT	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	5/12			chr4	TogoVar
PRSS55_chr8_10520532_10543819	10540778	C C	CGTCCAGT others(20): Show CGTCCAGTTAGTCCTTATTCACTACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0125 a0003c0003t0001g0125	1	480	0.0021	27	c.19 others(38): Show c.1985_*1986insGTCCAGTTAGTCCTTATTCACTACACA	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		1960		chr8	TogoVar
PRTFDC1_chr10_24843614_24957606	24880872	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	338	0.0030	27	c.340 others(44): Show c.340-8810_340-8809insGAAAGAAAGAAAGAAAGAAAGAAAGAA	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02735.hp2 HG01258.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0268 a0001c0001t0002g0238 a0001c0001t0002g0268	2	284	0.0070	27	c.204 others(46): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTTTTTTT T	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRUNE2_chr9_76606376_76911114	76855082	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0003 a0003c0015t0003	a0003c0015t0003g0160 a0003c0015t0003g0160	1	240	0.0042	27	c.37- others(40): Show c.37-875_37-874insATATATATATATATATTTTTTTTTTTT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(20): Show CTTATATATCATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG01255.hp1 others(5): Show HG00738.hp1 HG01123.hp2 HG01255.hp1 HG02257.hp1 HG03225.hp1 HG04115.hp1 NA18612.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0023 a0001c0001t0051	a0001c0001t0003g0006 a0001c0001t0003g0076 a0001c0001t0003g0078 others(4): Show a0001c0001t0003g0006 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0085 a0001c0001t0011g0070 a0001c0001t0023g0005 a0001c0001t0051g0079	8	300	0.0267	27	c.-18 others(38): Show c.-1889_-1888insTTATATATCATATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PSD2_chr5_139790808_139849466	139830572	T T	TCCTTTCT others(20): Show TCCTTTCTTTCTTTCTTTCTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0024 a0003c0004t0001g0024	1	276	0.0036	27	c.127 others(46): Show c.1270-3130_1270-3129insCCTTTCTTTCTTTCTTTCTTTCTCTT C	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14			chr5	TogoVar
PSD3_chr8_18522303_19018703	18828067	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0033 a0005c0012t0033	a0005c0012t0033g0194 a0005c0012t0033g0194	1	228	0.0044	27	c.163 others(48): Show c.1635-23170_1635-23169insATATATATATATATATATATATAT ATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18828067	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0172 a0003c0004t0001g0172	1	228	0.0044	27	c.163 others(48): Show c.1635-23170_1635-23169insAAATATATATATATATATATATAT ATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73151895	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01975.hp1 NA19072.hp2 HG00408.hp1 HG01975.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0273 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0273 a0001c0001t0006g0283 a0001c0001t0006g0284	3	378	0.0079	27	c.87+ others(42): Show c.87+3789_87+3790insATATATATATATATATATATATATATA	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11			chr14	TogoVar

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