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
PLEKHN1_chr1_961482_980865	977285	C C	CCCCGGGA others(20): Show CCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	422	0.0024	27	c.27 others(38): Show c.2710_*2711insCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1421		chr1	TogoVar
PLEKHO2_chr15_64836915_64873002	64871410	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	322	0.0031	27	c.55 others(38): Show c.5522_*5523insATATATATATATATATATATATATATA	PLEKHO2	ENSG00000241839.10	transcript	ENST00000323544.5	protein_coding		3409		chr15	TogoVar
PLET1_chr11_112243153_112265860	112261449	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	368	0.0027	27	c.-86 others(36): Show c.-861_-860insCACACACACACACACACACACACACAC	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding		590		chr11	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(20): Show TATATATATATACTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	414	0.0024	27	c.81+ others(42): Show c.81+7205_81+7206insGTGTATATATATATAGTATATATATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLG_chr6_160697244_160759097	160748365	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0146 a0006c0014t0001g0146	1	384	0.0026	27	c.212 others(46): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAGAAGAAAGAAAG A	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLIN4_chr19_4497192_4523486	4509310	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp1 HG03486.hp2 others(2): Show HG01175.hp2 HG01884.hp1 HG03486.hp2 HG03490.hp1 NA21309.hp1	a0010 a0017 a0039 others(1): Show a0010 a0017 a0039 a0061	a0010c0009 a0017c0017 a0039c0046 others(1): Show a0010c0009 a0017c0017 a0039c0046 a0061c0118	a0010c0009t0007 a0017c0017t0001 a0039c0046t0001 others(1): Show a0010c0009t0007 a0017c0017t0001 a0039c0046t0001 a0061c0118t0001	a0010c0009t0007g0090 a0017c0017t0001g0264 a0039c0046t0001g0309 others(2): Show a0010c0009t0007g0090 a0017c0017t0001g0264 a0039c0046t0001g0309 a0039c0046t0001g0310 a0061c0118t0001g0236	5	412	0.0121	27	c.351 others(44): Show c.3515-356_3515-355insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02148.hp2 HG01346.hp1 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	2	384	0.0052	27	c.-24 others(38): Show c.-2481_-2480insAAAAAAAAAAAATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18990.hp2 NA18954.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	384	0.0052	27	c.-24 others(38): Show c.-2481_-2480insAAAAAATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967615	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0315 a0001c0006t0001g0315	1	380	0.0026	27	c.175 others(44): Show c.1755+524_1755+525insTATATATATATATATATATATATATAT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56538959	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG02559.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0226 a0001c0001t0003g0135 a0001c0001t0003g0226	2	336	0.0060	27	c.140 others(44): Show c.140-1848_140-1847insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557018	G G	GAAAGAAA others(20): Show GAAAGAAAGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	336	0.0030	27	c.140 others(46): Show c.140-19907_140-19906insTTTCTTTCTTTCTTTCCTTCTTTCTT T	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078087	G G	GAGAAGGA others(20): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	203	0.0049	27	c.-46 others(46): Show c.-46+48987_-46+48988insAAGGAGAAGGAGAAGGAGAAGGAGAA G	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(20): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp1 HG02257.hp1 others(1): Show HG01261.hp2 HG02109.hp1 HG02257.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0002t0013 a0001c0006t0001 a0001c0001t0002 a0001c0002t0013 a0001c0006t0001	a0001c0001t0002g0013 a0001c0001t0002g0110 a0001c0002t0013g0089 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0110 a0001c0002t0013g0089 a0001c0006t0001g0015	4	203	0.0197	27	c.-46 others(46): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGAA G	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101078105	A A	AAGGAGAA others(20): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG04115.hp1 NA18982.hp1 others(2): Show HG01081.hp2 HG04115.hp1 NA18982.hp1 NA19003.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0171 others(2): Show a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0171 a0001c0001t0002g0184 a0001c0001t0004g0072	5	203	0.0246	27	c.-46 others(46): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA G	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLS1_chr3_142591393_142718664	142630938	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0116 a0002c0003t0001g0116	1	276	0.0036	27	c.-36 others(46): Show c.-36-33264_-36-33263insCACACACACACACACACACACACACA C	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15			chr3	TogoVar
PLSCR4_chr3_146187335_146256105	146191704	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0157 a0003c0003t0010g0157	1	380	0.0026	27	c.27 others(38): Show c.2706_*2707insTATATATATATATATATATATATATAT	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		630		chr3	TogoVar
PLVAP_chr19_17346455_17382342	17349159	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	436	0.0023	27	c.32 others(38): Show c.3202_*3203insGAGAGAGAGAGAGAGAGAGAGAGAGAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2295		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382272	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01884.hp1 HG03654.hp1 HG00673.hp2 HG01884.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0242 a0001c0001t0001g0253 a0001c0001t0015g0256 a0001c0001t0001g0242 a0001c0001t0001g0253 a0001c0001t0015g0256	3	436	0.0069	27	c.-49 others(38): Show c.-4985_-4984insCTTTCTTTCTTTCTTTCTTTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4931		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG00733.hp2 others(9): Show HG00408.hp1 HG00733.hp1 HG00733.hp2 HG01192.hp1 HG01257.hp1 HG02273.hp1 HG02976.hp2 HG03927.hp1 HG03927.hp2 NA18953.hp2 NA18994.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0005c0006t0001 a0001c0001t0001 a0001c0001t0002 a0005c0006t0001	a0001c0001t0001g0239 a0001c0001t0001g0261 a0001c0001t0001g0263 others(9): Show a0001c0001t0001g0239 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0313 a0001c0001t0001g0321 a0001c0001t0001g0410 a0001c0001t0002g0116 a0005c0006t0001g0330	12	436	0.0275	27	c.-49 others(38): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(20): Show AATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp1 HG02040.hp1 others(5): Show HG00438.hp1 HG01928.hp1 HG02040.hp1 HG02155.hp2 HG03654.hp2 HG03669.hp1 NA19056.hp2 NA19083.hp2	a0001 a0007 a0021 others(1): Show a0001 a0007 a0021 a0023	a0001c0001 a0001c0004 a0007c0014 others(2): Show a0001c0001 a0001c0004 a0007c0014 a0021c0055 a0023c0060	a0001c0001t0064 a0001c0001t0100 a0001c0001t0110 others(5): Show a0001c0001t0064 a0001c0001t0100 a0001c0001t0110 a0001c0004t0003 a0007c0014t0019 a0007c0014t0106 a0021c0055t0092 a0023c0060t0001	a0001c0001t0064g0085 a0001c0001t0100g0271 a0001c0001t0110g0311 others(5): Show a0001c0001t0064g0085 a0001c0001t0100g0271 a0001c0001t0110g0311 a0001c0004t0003g0101 a0007c0014t0019g0224 a0007c0014t0106g0301 a0021c0055t0092g0283 a0023c0060t0001g0110	8	312	0.0256	27	c.137 others(44): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132562975	T T	TCCTCCTC others(20): Show TCCTCCTCCTCTCCCTCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp2 HG02723.hp2 others(2): Show HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0018 a0001c0038	a0001c0001t0013 a0001c0002t0023 a0001c0006t0003 others(2): Show a0001c0001t0013 a0001c0002t0023 a0001c0006t0003 a0001c0018t0020 a0001c0038t0005	a0001c0001t0013g0033 a0001c0002t0023g0032 a0001c0006t0003g0035 others(2): Show a0001c0001t0013g0033 a0001c0002t0023g0032 a0001c0006t0003g0035 a0001c0018t0020g0036 a0001c0038t0005g0011	5	88	0.0568	27	c.-87 others(46): Show c.-87+13446_-87+13447insGAGAGGAGGAGGAGGGAGAGGAGGAG G	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94274155	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp2 NA20129.hp2 HG02257.hp1 HG02922.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0040 a0001c0007 a0002c0040	a0001c0007t0003 a0002c0040t0002 a0001c0007t0003 a0002c0040t0002	a0001c0007t0003g0060 a0001c0007t0003g0174 a0002c0040t0002g0258 a0001c0007t0003g0060 a0001c0007t0003g0174 a0002c0040t0002g0258	3	298	0.0101	27	c.359 others(46): Show c.3598-5311_3598-5285dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03942.hp1 NA21309.hp2 HG02723.hp1 HG03942.hp1 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0009 a0002c0001 a0002c0009	a0002c0001t0002 a0002c0009t0001 a0002c0001t0002 a0002c0009t0001	a0002c0001t0002g0014 a0002c0001t0002g0123 a0002c0009t0001g0165 a0002c0001t0002g0014 a0002c0001t0002g0123 a0002c0009t0001g0165	3	416	0.0072	27	c.-33 others(38): Show c.-3365_-3364insATATATATATATATATATATATATATA	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PMEL_chr12_55949105_55971042	55970818	T T	TGGGGATC others(20): Show TGGGGATCTGCAAAGCCATGGTTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	396	0.0025	27	c.-48 others(38): Show c.-4834_-4808dupCCCCCAACCATGGCTTTGCAGATCCCC	PMEL	ENSG00000185664.15	transcript	ENST00000548747.6	protein_coding		4777		chr12	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(20): Show GGGTGGGGGGGTGGGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01943.hp2 HG02040.hp2 others(6): Show HG00597.hp2 HG01943.hp2 HG02040.hp2 HG02080.hp2 HG03225.hp2 NA18522.hp2 NA18971.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0134	9	330	0.0273	27	c.-45 others(38): Show c.-4531_-4530insGCCCCCCCACCCCCCCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	234	0.0043	27	c.234 others(44): Show c.2342+434_2342+460dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAC others(20): Show AAATATACATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0014 a0003c0004t0013g0014	1	408	0.0025	27	c.-95 others(36): Show c.-956_-955insATATATATATATATATATATGTATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNKD_chr2_218265519_218351793	218315057	T T	TCTTTCTT others(20): Show TCTTTCTTTCTTTCTTCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	280	0.0036	27	c.237 others(46): Show c.237-24723_237-24722insTCTTTCTTTCTTCTTCCTTCCTTCCT T	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA6A_chrX_153067454_153080019	153068515	G G	GAGGAGGA others(20): Show GAGGAGGAGGAGGGGGAGGAGGAGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0002 a0002c0006t0004g0002	1	86	0.0116	27	c.-42 others(38): Show c.-4220_-4219insAGGAGGAGGAGGGGGAGGAGGAGGAAT	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding		3938		chrX	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA19007.hp2 NA19055.hp2 others(1): Show HG03834.hp2 NA19007.hp2 NA19055.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0007t0003 a0001c0002t0003 a0001c0007t0003	a0001c0002t0003g0002 a0001c0007t0003g0023 a0001c0002t0003g0002 a0001c0007t0003g0023	4	454	0.0088	27	c.-39 others(38): Show c.-3914_-3913insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137503797	A A	AGAAAGAA others(20): Show AGAAAGAAATAGAAGAAGGGAGAAGGAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0173 a0002c0016t0001g0173	1	188	0.0053	27	c.147 others(46): Show c.1473+1816_1473+1817insGTCCTTCTCCCTTCTTCTATTTCTTT C	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551746	C C	CGAGCCCC others(20): Show CGAGCCCCGCCCCGCGAGCCCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	188	0.0053	27	c.-15 others(38): Show c.-1550_-1549insCGGGGCGGGGCTCGCGGGGCGGGGCTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1345		chr9	TogoVar
PODXL_chr7_131495271_131561628	131524408	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0416 a0005c0006t0002g0416	1	440	0.0023	27	c.101 others(46): Show c.101-12976_101-12975insCTCTCTCTCTCTCTCTCTCTCTCTCT C	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POF1B_chrX_85272396_85384665	85372772	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	227	0.0044	27	c.283 others(44): Show c.283-5007_283-5006insATATATATATATATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	2/16			chrX	TogoVar
POFUT2_chr21_45258935_45292895	45283325	A A	ATGCGGCA others(20): Show ATGCGGCAGGGGGAGGTGGGGGGGCACC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03654.hp1 HG04115.hp1 HG03017.hp2 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0194 a0001c0001t0003g0195 a0001c0001t0003g0207 a0001c0001t0001g0194 a0001c0001t0003g0195 a0001c0001t0003g0207	3	436	0.0069	27	c.527 others(40): Show c.527+31_527+57dupGGTGCCCCCCCACCTCCCCCTGCCGCA	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	3/8			chr21	TogoVar
POGLUT1_chr3_119463963_119499708	119495225	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0008 a0001c0001t0017g0008	1	422	0.0024	27	c.27 others(38): Show c.2787_*2788insAAAAAAAAAAAAAAAAAAAAAAAAAAA	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		518		chr3	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01099.hp2 HG01123.hp2 others(22): Show HG00673.hp2 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01884.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02572.hp1 HG02647.hp2 HG02738.hp2 HG03098.hp2 HG03225.hp1 HG03516.hp2 HG03834.hp2 NA18940.hp1 NA18952.hp2 NA18956.hp1 NA18969.hp1 NA18974.hp1 NA18986.hp2 NA18990.hp1 NA19063.hp2 NA19089.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006	a0001c0001t0004g0034 a0001c0001t0013g0112 a0001c0002t0001g0006 others(15): Show a0001c0001t0004g0034 a0001c0001t0013g0112 a0001c0002t0001g0006 a0001c0002t0001g0051 a0001c0002t0001g0059 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0137 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0003g0109 a0001c0002t0006g0105 a0001c0002t0006g0111	25	340	0.0735	27	c.438 others(42): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLG_chr15_89311320_89339824	89339649	C C	CATAATAT others(20): Show CATAATATATACTATATATTATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0244 a0001c0013t0001g0244	1	398	0.0025	27	c.-51 others(38): Show c.-5137_-5136insATATACATAATATATAGTATATATTAT	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding		4826		chr15	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA19057.hp2 NA18978.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0272 a0001c0001t0001g0209 a0001c0001t0001g0272	2	318	0.0063	27	c.110 others(44): Show c.1109-162_1109-136dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR1G_chr19_45401644_45415737	45410565	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0073 a0003c0003t0073	a0003c0003t0073g0001 a0003c0003t0073g0001	1	406	0.0025	27	c.10 others(38): Show c.1064_*1065insGTGTGTGTGTGTGTGTGTGTGTGTGTG	POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3	1065		chr19	TogoVar
POLR2E_chr19_1081574_1100375	1087971	C C	CACACCCT others(20): Show CACACCCTCACGGGAAGGGAAGAGACAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0035 a0001c0001t0038g0035	2	442	0.0045	27	c.73 others(36): Show c.737_*763dupCTGTCTCTTCCCTTCCCGTGAGGGTGT	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding	8/8	1514		chr19	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	358	0.0028	27	c.36+ others(40): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POPDC2_chr3_119637056_119665589	119640962	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	410	0.0024	27	c.16 others(38): Show c.1616_*1642dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1093		chr3	TogoVar
POR_chr7_75910155_75991855	75970942	T T	TATTTTAT others(20): Show TATTTTATTTTATTTTATTTTATTTTAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0002 a0001c0007t0005g0002	1	278	0.0036	27	c.180 others(44): Show c.180-1445_180-1444insAATTTTATTTTATTTTATTTTATTTTA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
POT1_chr7_124817386_124934825	124817689	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02897.hp1 others(4): Show HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp1 HG03540.hp2 NA18966.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0321 others(4): Show a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327	7	346	0.0202	27	c.62 others(38): Show c.6272_*6273insAAAAAAAAAAAAAAAAAAAAAAAAAAA	POT1	ENSG00000128513.16	transcript	ENST00000357628.8	protein_coding		4696		chr7	TogoVar
POTED_chr21_13604777_13650823	13637004	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0109 a0004c0005t0002g0109	1	416	0.0024	27	c.141 others(46): Show c.1410-2510_1410-2509insATATATATATATATATATATATATAT T	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13637004	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19240.hp1 HG02886.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0038	2	416	0.0048	27	c.141 others(46): Show c.1410-2510_1410-2509insATATATATATATATATATATTTTTTT T	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13637004	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp2 HG03209.hp2 NA18906.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0015 a0002c0002 a0013c0015	a0002c0002t0002 a0013c0015t0002 a0002c0002t0002 a0013c0015t0002	a0002c0002t0002g0077 a0013c0015t0002g0078 a0002c0002t0002g0077 a0013c0015t0002g0078	2	416	0.0048	27	c.141 others(46): Show c.1410-2510_1410-2509insATATATATATATATATATTTTTTTTT T	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
POTED_chr21_13604777_13650823	13646287	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA18967.hp2 HG00323.hp2 NA18967.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0033 a0001c0003t0003g0203 a0001c0003t0003g0033 a0001c0003t0003g0203	2	416	0.0048	27	c.47 others(38): Show c.4721_*4722insAAAAAAAAAAAAAAAAAAAAAACACAC	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		465		chr21	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	380	0.0026	27	c.121 others(44): Show c.121-1341_121-1340insTATATATATATATATATATATATATAT	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4			chr11	TogoVar

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