Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLEKHN1_chr1_961482_980865	977719	C C	CCACTCCC others(26): Show CCACTCCCCGCGCAACCCCGGGAACCACCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01975.hp2 others(12): Show HG00438.hp2 HG00673.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp2 HG02071.hp2 NA18747.hp1 NA18943.hp1 NA18966.hp2 NA18990.hp1 NA19057.hp1 NA19065.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0023 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0157 a0002c0002t0001g0003	15	402	0.0373	33	c.31 others(44): Show c.3144_*3145insCACTCCCCGCGCAACCCCGGGAACCACCTCCCA		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1855		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977719	C C	CCACTCCC others(26): Show CCACTCCCCGCGCAACCCCGGGAACCGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02135.hp2 NA19085.hp1 HG00544.hp1 HG02135.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0014g0036 a0001c0001t0001g0001 a0001c0001t0014g0036	3	390	0.0077	33	c.31 others(44): Show c.3144_*3145insCACTCCCCGCGCAACCCCGGGAACCGCCTCCCA		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1855		chr1	TogoVar
PLG_chr6_160697244_160759097	160748354	A A	AAGAAAGA others(26): Show AAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0001 a0007c0019t0001	a0007c0019t0001g0307 a0007c0019t0001g0307	1	346	0.0029	33	c.212 others(52): Show c.2126-3741_2126-3740insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAA		PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748357	A A	AAAGAAAG others(26): Show AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0239 a0001c0002t0009g0239	1	382	0.0026	33	c.212 others(52): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAAGAAAGAAAGAA AGAAAGA		PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	126	0.0159	33	c.-24 others(44): Show c.-2481_-2480insAAAAAAAAAAAAAAAAAAAATATATATATATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	125	0.0080	33	c.-24 others(44): Show c.-2481_-2480insAAAAAAAAAAAAAATATATATATATATATATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	125	0.0080	33	c.-24 others(44): Show c.-2481_-2480insAAAAAAAAAAAATATATATATATATATATATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	125	0.0080	33	c.-24 others(44): Show c.-2481_-2480insAAAAAATATATATATATATATATATATATATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLPBP_chr8_37757645_37784768	37779323	T T	TCAGGCAC others(26): Show TCAGGCACATGGTTTCAACAAAGCCTGGCTTTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0175 a0001c0001t0013g0175	1	346	0.0029	33	c.12 others(44): Show c.1222_*1254dupGGCACATGGTTTCAACAAAGCCTGGCTTTGACA		PLPBP	ENSG00000147471.12	transcript	ENST00000328195.8	protein_coding	8/8				1255	INFO_REALIGN_3_PRIME	chr8	TogoVar
PLPP2_chr19_276043_296403	286662	A A	AAAAAAAG others(26): Show AAAAAAAGTCAGAGATCTGGCTGGATGTGGTGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	352	0.0028	33	c.482 others(48): Show c.482+779_482+811dupGCCACCACATCCAGCCAGATCTCTGACTTT TTT		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	3/5						chr19	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGC others(26): Show GGAGGGGCGGGGAGGGGAGAGGGGGGAGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	273	0.0037	33	c.-26 others(42): Show c.-269_-268insTCCTCCCTCCCCCCTCTCCCCTCCCCGCCCCTC		PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding					202		chr19	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AGGAAAGA others(26): Show AGGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG03041.hp2 HG00280.hp1 HG01358.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0081 a0001c0001t0003g0132 a0001c0001t0008g0004 a0001c0001t0001g0081 a0001c0001t0003g0132 a0001c0001t0008g0004	3	261	0.0115	33	c.140 others(52): Show c.140-19897_140-19896insCTTTCTTTCTCTTTCTTTCTTTTCTT TCTTTCC		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5						chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AGGAAAGA others(26): Show AGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	259	0.0039	33	c.140 others(52): Show c.140-19897_140-19896insCTTTCTCTTTCTTTCTTTTCTTTCTT TCTTTCC		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5						chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAGGAAA others(26): Show GAAGGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG04184.hp1 HG00140.hp2 HG01261.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0162 a0001c0001t0003g0188 a0001c0001t0004g0020 a0001c0001t0001g0162 a0001c0001t0003g0188 a0001c0001t0004g0020	3	283	0.0106	33	c.140 others(52): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCCTT		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5						chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(26): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01884.hp1 others(2): Show HG01106.hp2 HG01109.hp2 HG01884.hp1 HG02055.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0003	a0001c0001t0001g0051 a0001c0001t0002g0150 a0001c0001t0004g0090 others(2): Show a0001c0001t0001g0051 a0001c0001t0002g0150 a0001c0001t0004g0090 a0001c0001t0009g0045 a0001c0002t0003g0149	5	136	0.0368	33	c.-46 others(52): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGAA GAAGAAG		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(26): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG01257.hp1 HG02896.hp2 HG02897.hp2 NA19005.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0002t0008 a0001c0001t0001 a0001c0001t0018 a0001c0002t0008	a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0018g0175 others(2): Show a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0018g0175 a0001c0002t0008g0004 a0001c0002t0008g0005	5	136	0.0368	33	c.-46 others(52): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGAAG		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(26): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02145.hp2 HG02040.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0166 a0001c0001t0001g0144 a0001c0001t0001g0166	2	170	0.0118	33	c.-46 others(52): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAG		PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101078106	A A	AGGAGAAG others(26): Show AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	202	0.0050	33	c.-46 others(52): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGAGG		PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101316616	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0034 a0001c0001t0007g0095 a0001c0001t0002g0034 a0001c0001t0007g0095	2	105	0.0190	33	c.814 others(48): Show c.814-737_814-736insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01109.hp1 HG02040.hp1 others(5): Show HG00423.hp1 HG01109.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 NA18959.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0329 others(5): Show a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0329 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0001g0365 a0001c0001t0003g0287	8	171	0.0468	33	c.-49 others(44): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382309	A A	AAAGAGAA others(26): Show AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	434	0.0023	33	c.-50 others(44): Show c.-5022_-5021insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					4968		chr19	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(26): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0199 a0001c0009t0007g0199	1	57	0.0175	33	c.137 others(50): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAT		PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31						chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132562020	T T	TCCTCCTC others(26): Show TCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0033 a0001c0001t0013g0033	1	86	0.0116	33	c.-87 others(52): Show c.-87+14369_-87+14401dupGAGAGGAGGAGGAAGAGGAGGAGAAG GAGGAGG		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31						chr7	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	217	0.0046	33	c.-33 others(44): Show c.-3365_-3364insATATATATATATATATATATATATATATATATA		PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding					3305		chr1	TogoVar
PM20D2_chr6_89141055_89170565	89141977	A A	ATTATTTA others(26): Show ATTATTTATTTTATTTTATTTTATTTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	246	0.0041	33	c.-41 others(44): Show c.-4168_-4167insTTATTTATTTTATTTTATTTTATTTTATTTTAT		PM20D2	ENSG00000146281.6	transcript	ENST00000275072.5	protein_coding					4077		chr6	TogoVar
PMM1_chr22_41571900_41594840	41594383	G G	GGGGTGGG others(26): Show GGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	327	0.0031	33	c.-45 others(44): Show c.-4579_-4578insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCC		PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding					4544		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594383	G G	GGGTGGGG others(26): Show GGGTGGGGGAGGCGGTGGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	327	0.0031	33	c.-45 others(44): Show c.-4579_-4578insGCCTCCCCCACCCCCCCCACCGCCTCCCCCACC		PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding					4544		chr22	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0078 a0002c0004t0001g0078	1	45	0.0222	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATTTTTTTTTTTT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0075 a0002c0004t0001g0075	1	45	0.0222	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATATATTTTTTTT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0009 a0002c0004t0001g0009	1	45	0.0222	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATATATATTTTTT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(26): Show AAAAATATACATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0336 a0001c0003t0004g0336	1	45	0.0222	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATATGTATATTTT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAATATA others(26): Show AAAATATACATTATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0380 a0001c0003t0004g0380	1	45	0.0222	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATAATGTATATTT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAC others(26): Show AAATATACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0004 a0010c0017t0004	a0010c0017t0004g0013 a0010c0017t0004g0013	2	46	0.0435	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATATATGTATATT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	315	0.0032	33	c.-11 others(52): Show c.-111-2757_-111-2725dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11						chr6	TogoVar
PNMA6E_chrX_153390639_153406350	153390647	A A	ACACACAC others(26): Show ACACACACACACCACACACAACATGCACACCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	343	0.0029	33	c.62 others(44): Show c.6258_*6259insCATGGTGTGCATGTTGTGTGTGGTGTGTGTGTG		PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding					4991		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153401076	A A	AAACCGGG others(26): Show AAACCGGGCCAGGCGGGACCGCCGCCCCCCAGCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	344	0.0029	33	c.-72 others(48): Show c.-72+135_-72+167dupAGCTGGGGGGCGGCGGTCCCGCCTGGCCCG GTT		PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	1/1						chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137484843	A A	AGAGGCCG others(26): Show AGAGGCCGCCTGGCCCTCCCGCCTCCCCAGTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	186	0.0054	33	c.219 others(50): Show c.2198-140_2198-108dupAGGACTGGGGAGGCGGGAGGGCCAGGCG GCCTC		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137484849	C C	CGCCTGGC others(26): Show CGCCTGGCCCTCCCGCCTCCCCAGTCCTGAGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02074.hp1 others(9): Show HG01109.hp1 HG01891.hp1 HG02074.hp1 HG02155.hp1 HG02280.hp2 HG03017.hp1 HG03139.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 NA18940.hp2 NA18944.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0021	a0001c0024 a0002c0003 a0002c0015 others(5): Show a0001c0024 a0002c0003 a0002c0015 a0003c0008 a0003c0021 a0003c0025 a0003c0057 a0021c0054	a0001c0024t0001 a0002c0003t0001 a0002c0015t0001 others(5): Show a0001c0024t0001 a0002c0003t0001 a0002c0015t0001 a0003c0008t0001 a0003c0021t0001 a0003c0025t0001 a0003c0057t0001 a0021c0054t0001	a0001c0024t0001g0011 a0002c0003t0001g0033 a0002c0015t0001g0173 others(9): Show a0001c0024t0001g0011 a0002c0003t0001g0033 a0002c0015t0001g0173 a0003c0008t0001g0014 a0003c0008t0001g0087 a0003c0008t0001g0091 a0003c0008t0001g0159 a0003c0021t0001g0088 a0003c0021t0001g0185 a0003c0025t0001g0012 a0003c0057t0001g0176 a0021c0054t0001g0177	12	183	0.0656	33	c.219 others(50): Show c.2198-146_2198-114dupAGCCTCAGGACTGGGGAGGCGGGAGGGC CAGGC		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137495519	C C	CTGCAAGC others(26): Show CTGCAAGCTCCACCTCCTGGGTTCACGCCATTCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0030 a0030	a0030c0033 a0030c0033	a0030c0033t0001 a0030c0033t0001	a0030c0033t0001g0077 a0030c0033t0001g0077	1	186	0.0054	33	c.201 others(50): Show c.2014-406_2014-374dupAGAATGGCGTGAACCCAGGAGGTGGAGC TTGCA		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	18/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137507582	T T	TCCCTTGA others(26): Show TCCCTTGAACCCAGGAGGCAGAGGTTGCGGTGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0017 a0017	a0017c0049 a0017c0049	a0017c0049t0001 a0017c0049t0001	a0017c0049t0001g0136 a0017c0049t0001g0136	1	185	0.0054	33	c.122 others(52): Show c.1226-1532_1226-1500dupCTCACCGCAACCTCTGCCTCCTGGGT TCAAGGG		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137517782	C C	CTCACTCA others(26): Show CTCACTCACTCCACTCTGTCCACTCCATCCCCCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	186	0.0054	33	c.108 others(52): Show c.1084+2102_1084+2134dupCGGGGGATGGAGTGGACAGAGTGGAG TGAGTGA		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518738	C C	CCACTCCA others(26): Show CCACTCCATCCTCACTCACTCACTCCACTCTGCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0032 a0032	a0032c0042 a0032c0042	a0032c0042t0001 a0032c0042t0001	a0032c0042t0001g0036 a0032c0042t0001g0036	1	158	0.0063	33	c.108 others(52): Show c.1084+1178_1084+1179insAGCAGAGTGGAGTGAGTGAGTGAGGA TGGAGTG		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551728	C C	CCCGCCCC others(26): Show CCCGCCCCGCGAGCCCCGCACCGCCGACCCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0161 a0001c0006t0002g0161	1	110	0.0091	33	c.-15 others(44): Show c.-1532_-1531insTGCGGGGTCGGCGGTGCGGGGCTCGCGGGGCGG		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding					1327		chr9	TogoVar
POFUT2_chr21_45258935_45292895	45265645	A A	ATCACAGA others(26): Show ATCACAGAGGTTCCAGAGTCAGGGAGAACTGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20300.hp2 HG01891.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0013 a0001c0001t0001 a0003c0005t0013	a0001c0001t0001g0145 a0003c0005t0013g0059 a0001c0001t0001g0145 a0003c0005t0013g0059	2	276	0.0072	33	c.113 others(48): Show c.1137-11_1137-10insCCCCAGTTCTCCCTGACTCTGGAACCTCTG TGA		POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	8/8						chr21	TogoVar
POFUT2_chr21_45258935_45292895	45290648	A A	AAAAATAA others(26): Show AAAAATAAGCGTTTCTGGTCTTTGAAAGACACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01361.hp2 others(3): Show HG00099.hp2 HG00323.hp2 HG01361.hp2 HG03490.hp1 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0183 a0001c0001t0003g0184 a0001c0001t0003g0199 others(2): Show a0001c0001t0001g0183 a0001c0001t0003g0184 a0001c0001t0003g0199 a0001c0001t0003g0244 a0001c0001t0015g0048	6	434	0.0138	33	c.-27 others(44): Show c.-2778_-2777insAAGTGTCTTTCAAAGACCAGAAACGCTTATTTT		POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding					2754		chr21	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0219 a0001c0001t0006g0219	1	316	0.0032	33	c.220 others(50): Show c.220-2126_220-2125insATATATATATATATATATATATATATAT ATATT		POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18955.hp2 NA20129.hp1 HG00597.hp2 NA18955.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0002t0001g0122 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0002t0001g0122	3	74	0.0405	33	c.438 others(48): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10						chr17	TogoVar
POLRMT_chr19_612221_638537	622859	G G	GGCACAGG others(26): Show GGCACAGGAAGGGGTAAAGTGAGAACCGGCCCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03710.hp2 HG03710.hp2	a0029 a0029	a0029c0057 a0029c0057	a0029c0057t0002 a0029c0057t0002	a0029c0057t0002g0182 a0029c0057t0002g0182	1	420	0.0024	33	c.138 others(42): Show c.1384_1416dupGAGGGCCGGTTCTCACTTTACCCCTTCCTGTGC	p.Cys others(46): Show p.Cys472_Leu473insGluGlyArgPheSerLeuTyrProPheLeuCy s	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	7/21	1441/3771	1416/3693	472/1230			chr19	TogoVar
POLRMT_chr19_612221_638537	626696	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0227 a0002c0013t0002g0227	1	167	0.0060	33	c.823 others(50): Show c.823-1443_823-1442insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20						chr19	TogoVar
POMGNT2_chr3_43074234_43111079	43076383	T T	TGGGGGGG others(26): Show TGGGGGGGGGGGGGCAGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	376	0.0027	33	c.33 others(44): Show c.3305_*3306insCCCCCCCCCCCCCCCCCCTGCCCCCCCCCCCCC		POMGNT2	ENSG00000144647.7	transcript	ENST00000344697.3	protein_coding					2850		chr3	TogoVar

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