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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PMEPA1_chr20_57643396_57715015	57683556	T T	TGTGTGCG others(13): Show TGTGTGCGTGTGTGCGTGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0069 a0001c0003t0004g0069	1	360	0.0028	20	c.110 others(39): Show c.110-23860_110-23859insTCACACGCACACACGCACAC	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3			chr20	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(13): Show GGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00738.hp1 HG01070.hp1 others(23): Show HG00558.hp2 HG00738.hp1 HG01070.hp1 HG01167.hp1 HG01358.hp1 HG01433.hp1 HG02056.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 NA18953.hp2 NA18966.hp1 NA18983.hp1 NA19011.hp2 NA19062.hp2 NA19080.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0004g0082	26	330	0.0788	20	c.-45 others(31): Show c.-4531_-4530insGCCTCCCCCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(13): Show GGGTGGGGGGGTGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	330	0.0030	20	c.-45 others(31): Show c.-4531_-4530insGCCCCCCCCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594338	T T	TGGGGGGG others(13): Show TGGGGGGGTGGGGGGGCGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	20	c.-45 others(31): Show c.-4534_-4533insCACCGCCCCCCCACCCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4499		chr22	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 NA18747.hp1 NA18965.hp1 others(3): Show HG00280.hp1 NA18747.hp1 NA18965.hp1 NA18981.hp1 NA18988.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0198 others(3): Show a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0198 a0001c0001t0002g0227 a0001c0001t0002g0275 a0001c0001t0002g0276	6	408	0.0147	20	c.41 others(31): Show c.4152_*4153insTTTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMP22_chr17_15224779_15270326	15264230	G G	GTAGGTAG others(13): Show GTAGGTAGGTAGGTAGATAGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02273.hp2 NA18977.hp2 others(5): Show HG02155.hp2 HG02273.hp2 NA18977.hp2 NA18983.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0044 a0001c0001t0005g0303 others(1): Show a0001c0001t0005g0013 a0001c0001t0005g0044 a0001c0001t0005g0303 a0001c0001t0005g0304	8	426	0.0188	20	c.-35 others(35): Show c.-35+923_-35+924insTCTATCTACCTACCTACCTA	PMP22	ENSG00000109099.16	transcript	ENST00000312280.9	protein_coding	1/4			chr17	TogoVar
PMP22_chr17_15224779_15270326	15264230	G G	GTAGGTAG others(13): Show GTAGGTAGGTAGGTAGGTAGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19058.hp2 HG02083.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0291 a0001c0001t0005g0292	2	426	0.0047	20	c.-35 others(35): Show c.-35+923_-35+924insTCTACCTACCTACCTACCTA	PMP22	ENSG00000109099.16	transcript	ENST00000312280.9	protein_coding	1/4			chr17	TogoVar
PMS1_chr2_189779450_189882629	189792688	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	234	0.0043	20	c.132 others(35): Show c.132+760_132+779dupATATATATATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189835898	G G	GCCTGGGT others(13): Show GCCTGGGTGACAGAATAAGAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 HG03139.hp1 others(3): Show HG02895.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 NA18522.hp1 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0005 a0003c0004 others(1): Show a0001c0001 a0002c0005 a0003c0004 a0009c0006	a0001c0001t0001 a0001c0001t0003 a0002c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0005t0001 a0003c0004t0001 a0009c0006t0001	a0001c0001t0001g0205 a0001c0001t0003g0211 a0002c0005t0001g0227 others(3): Show a0001c0001t0001g0205 a0001c0001t0003g0211 a0002c0005t0001g0227 a0002c0005t0001g0230 a0003c0004t0001g0228 a0009c0006t0001g0232	6	234	0.0256	20	c.583 others(37): Show c.583-8062_583-8061insGGTGACAGAATAAGACCCTG	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864687	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	234	0.0043	20	c.234 others(37): Show c.2342+460_2342+461insAAAAAAAAAAAAAAAAAATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864687	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	234	0.0043	20	c.234 others(37): Show c.2342+460_2342+461insAAAAAAAAAATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0268 a0001c0002t0015g0268	1	408	0.0025	20	c.-95 others(29): Show c.-956_-955insATATATATATATTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG02004.hp2 HG03831.hp1 others(2): Show HG01168.hp1 HG02004.hp2 HG03831.hp1 NA19000.hp2 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0004 a0001c0002 a0001c0003 a0003c0004	a0001c0002t0002 a0001c0003t0008 a0003c0004t0012 a0001c0002t0002 a0001c0003t0008 a0003c0004t0012	a0001c0002t0002g0113 a0001c0002t0002g0215 a0001c0002t0002g0267 others(2): Show a0001c0002t0002g0113 a0001c0002t0002g0215 a0001c0002t0002g0267 a0001c0003t0008g0219 a0003c0004t0012g0203	5	408	0.0123	20	c.-95 others(29): Show c.-956_-955insATATATATATATATTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAATA others(13): Show AAAAAATATACATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02976.hp1 HG03579.hp2 HG02717.hp2 HG02976.hp1 HG03579.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0323 a0003c0008t0007g0339 a0003c0008t0007g0342 a0003c0008t0007g0323 a0003c0008t0007g0339 a0003c0008t0007g0342	3	408	0.0074	20	c.-95 others(29): Show c.-956_-955insATATATATATGTATATTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA19007.hp2 NA19087.hp1 NA18999.hp1 NA19007.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0037 a0001c0002 a0001c0037	a0001c0002t0002 a0001c0037t0002 a0001c0002t0002 a0001c0037t0002	a0001c0002t0002g0210 a0001c0002t0002g0222 a0001c0037t0002g0218 a0001c0002t0002g0210 a0001c0002t0002g0222 a0001c0037t0002g0218	3	408	0.0074	20	c.-95 others(29): Show c.-956_-955insATATATATATATATATTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAATATA others(13): Show AAAATATACATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG03669.hp1 HG03710.hp2 HG00099.hp2 HG03669.hp1 HG03710.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0008 a0003c0004t0004 a0003c0004t0008	a0003c0004t0004g0363 a0003c0004t0008g0355 a0003c0004t0008g0356 a0003c0004t0004g0363 a0003c0004t0008g0355 a0003c0004t0008g0356	3	408	0.0074	20	c.-95 others(29): Show c.-956_-955insATATATATATATGTATATTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA18993.hp1 HG00609.hp2 NA18993.hp1	a0002 a0002	a0002c0001 a0002c0013 a0002c0001 a0002c0013	a0002c0001t0001 a0002c0013t0001 a0002c0001t0001 a0002c0013t0001	a0002c0001t0001g0281 a0002c0013t0001g0200 a0002c0001t0001g0281 a0002c0013t0001g0200	2	408	0.0049	20	c.-95 others(29): Show c.-956_-955insATATATATATATATATATAT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMVK_chr1_154919740_154941719	154921440	G G	GATTTCTC others(13): Show GATTTCTCACTTGATTGACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	294	0.0034	20	c.36 others(31): Show c.3688_*3689insGAGTCAATCAAGTGAGAAAT	PMVK	ENSG00000163344.6	transcript	ENST00000368467.4	protein_coding		3299		chr1	TogoVar
PNKD_chr2_218265519_218351793	218348263	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp2 others(50): Show HG00099.hp2 HG00323.hp1 HG00642.hp2 HG00735.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03490.hp1 HG03516.hp2 HG04199.hp2 NA18906.hp1 NA18943.hp2 NA18948.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19057.hp2 NA19074.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0002t0002 a0001c0005t0002	a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0170 others(50): Show a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0241 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0006g0161 a0001c0001t0006g0162 a0001c0001t0006g0165 a0001c0001t0006g0179 a0001c0001t0006g0190 a0001c0001t0006g0238 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0047 a0001c0001t0009g0149 a0001c0001t0012g0268 a0001c0001t0012g0272 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0131 a0001c0005t0002g0214 a0001c0005t0002g0221	53	280	0.1893	20	c.32 others(31): Show c.3282_*3283insTTTATTTATTTATTTATTTA	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding		1471		chr2	TogoVar
PNLIPRP1_chr10_116585959_116614175	116590506	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0064 a0001c0006t0001g0064	1	420	0.0024	20	c.-49 others(29): Show c.-490_-489insGAGAGAGAGAGAGAGAGAGA	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding		452		chr10	TogoVar
PNLIPRP1_chr10_116585959_116614175	116599256	G G	GAAAATAA others(13): Show GAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00735.hp1 others(11): Show HG00099.hp2 HG00558.hp1 HG00735.hp1 HG02015.hp1 HG02602.hp2 HG03942.hp1 NA18949.hp2 NA18956.hp1 NA19057.hp1 NA19063.hp1 NA19078.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0092 a0001c0001t0001g0093 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0144 a0001c0002t0001g0076 a0001c0002t0001g0087 a0001c0002t0001g0114 a0001c0002t0001g0132 a0001c0002t0001g0177 a0001c0006t0001g0235 a0002c0003t0001g0154 a0004c0005t0001g0091	14	420	0.0333	20	c.815 others(35): Show c.815-766_815-747dupTAAAATAAAATAAAATAAAA	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIPRP3_chr10_116422847_116482957	116448690	G G	GTGTTTTG others(13): Show GTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0242 a0002c0006t0006g0242	1	288	0.0035	20	c.456 others(37): Show c.456+4199_456+4218dupGTTTTGTTTTGTTTTGTTTT	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0007 a0001c0002t0007g0007	1	454	0.0022	20	c.-20 others(31): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01106.hp2 HG01243.hp2 others(9): Show HG00642.hp2 HG01106.hp2 HG01243.hp2 HG01255.hp2 HG02129.hp2 HG02257.hp2 HG02280.hp2 HG02647.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0003 a0001c0002t0007 a0001c0001t0019 a0001c0002t0003 a0001c0002t0007	a0001c0001t0019g0049 a0001c0002t0003g0002 a0001c0002t0003g0044 others(1): Show a0001c0001t0019g0049 a0001c0002t0003g0002 a0001c0002t0003g0044 a0001c0002t0007g0007	12	454	0.0264	20	c.-39 others(31): Show c.-3914_-3913insTTTTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNMA8C_chr19_46419697_46433936	46430340	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG04199.hp1 NA18960.hp1 HG02970.hp2 HG04199.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	442	0.0068	20	c.-19 others(31): Show c.-1982_-1981insAAGGAAGGAAGGAAGGAAGG	PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding		1405		chr19	TogoVar
PNN_chr14_39170254_39188220	39172284	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0046 a0001c0004t0004g0046	1	444	0.0023	20	c.-29 others(31): Show c.-2996_-2995insGTGTGTGTGTGTGTGTGTGT	PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding		2969		chr14	TogoVar
PNOC_chr8_28312268_28348351	28330362	C C	CTTTATTT others(13): Show CTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG02055.hp1 others(16): Show HG00642.hp1 HG00738.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02293.hp2 HG02559.hp1 HG02615.hp1 HG02723.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0029 others(10): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0359 a0001c0001t0002g0296	19	424	0.0448	20	c.126 others(37): Show c.126+1098_126+1117dupATTTTATTTTATTTTATTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330400	T T	TATTTTTT others(13): Show TATTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	424	0.0024	20	c.126 others(37): Show c.126+1117_126+1118insATTTTTTTTTTTTTTTTTTA	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3			chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36269536	A A	ACGCAACA others(13): Show ACGCAACACGAAGCCTCACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0374 a0003c0006t0001g0374	1	386	0.0026	20	c.-92 others(29): Show c.-924_-923insCGCAACACGAAGCCTCACAC	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding		523		chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36273728	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp1 HG02135.hp2 others(3): Show HG01261.hp2 HG02109.hp1 HG02135.hp2 HG02451.hp1 HG03942.hp2 HG04184.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0026	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0026c0025	a0001c0001t0009 a0001c0001t0011 a0002c0002t0007 others(2): Show a0001c0001t0009 a0001c0001t0011 a0002c0002t0007 a0003c0006t0007 a0026c0025t0004	a0001c0001t0009g0063 a0001c0001t0009g0064 a0001c0001t0011g0066 others(3): Show a0001c0001t0009g0063 a0001c0001t0009g0064 a0001c0001t0011g0066 a0002c0002t0007g0163 a0003c0006t0007g0065 a0026c0025t0004g0076	6	386	0.0155	20	c.205 others(37): Show c.205+3069_205+3088dupAAAAAAAAAAAAAAAAAAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282044	G G	GGAAACAG others(13): Show GGAAACAGAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0373 a0003c0006t0001g0373	1	386	0.0026	20	c.206 others(37): Show c.206-9272_206-9271insCAGAGAAAGAAAGAAAGAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282044	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00733.hp1 others(48): Show HG00099.hp2 HG00438.hp1 HG00733.hp1 HG01069.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01981.hp1 HG02027.hp1 HG02132.hp1 HG02132.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02602.hp1 HG02615.hp1 HG02735.hp2 HG02809.hp1 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG03225.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03831.hp2 HG04199.hp1 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18975.hp2 NA18982.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0014 a0017	a0001c0001 a0001c0003 a0002c0002 others(14): Show a0001c0001 a0001c0003 a0002c0002 a0002c0012 a0003c0004 a0003c0006 a0004c0007 a0004c0008 a0005c0005 a0006c0009 a0006c0033 a0007c0010 a0008c0011 a0010c0013 a0013c0014 a0014c0019 a0017c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0026 a0001c0003t0001 a0001c0003t0005 a0001c0003t0024 a0002c0002t0001 a0002c0012t0001 a0003c0004t0001 a0003c0006t0001 a0004c0007t0001 a0004c0007t0003 a0004c0008t0008 a0005c0005t0002 a0006c0009t0004 a0006c0033t0008 a0007c0010t0001 a0008c0011t0001 a0010c0013t0001 a0013c0014t0002 a0014c0019t0003 a0017c0022t0001	a0001c0001t0001g0062 a0001c0001t0002g0030 a0001c0001t0002g0031 others(48): Show a0001c0001t0001g0062 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0184 a0001c0001t0002g0201 a0001c0001t0002g0260 a0001c0001t0002g0343 a0001c0001t0004g0173 a0001c0001t0015g0338 a0001c0001t0026g0034 a0001c0003t0001g0198 a0001c0003t0001g0285 a0001c0003t0001g0297 a0001c0003t0005g0009 a0001c0003t0024g0262 a0002c0002t0001g0200 a0002c0002t0001g0220 a0002c0002t0001g0358 a0002c0002t0001g0383 a0002c0012t0001g0245 a0003c0004t0001g0073 a0003c0004t0001g0230 a0003c0004t0001g0296 a0003c0004t0001g0307 a0003c0004t0001g0308 a0003c0006t0001g0112 a0003c0006t0001g0278 a0003c0006t0001g0280 a0004c0007t0001g0053 a0004c0007t0001g0183 a0004c0007t0003g0105 a0004c0008t0008g0282 a0005c0005t0002g0171 a0005c0005t0002g0172 a0005c0005t0002g0199 a0005c0005t0002g0202 a0005c0005t0002g0221 a0005c0005t0002g0244 a0006c0009t0004g0342 a0006c0033t0008g0169 a0007c0010t0001g0089 a0008c0011t0001g0353 a0008c0011t0001g0354 a0008c0011t0001g0355 a0010c0013t0001g0167 a0010c0013t0001g0259 a0013c0014t0002g0168 a0014c0019t0003g0110 a0017c0022t0001g0279	51	386	0.1321	20	c.206 others(37): Show c.206-9248_206-9229dupAGAAAGAAAGAAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02080.hp1 HG02129.hp1 others(2): Show HG00673.hp2 HG02080.hp1 HG02129.hp1 HG02886.hp2 HG03130.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0007 others(2): Show a0001c0001 a0002c0002 a0004c0007 a0004c0008 a0006c0009	a0001c0001t0002 a0002c0002t0001 a0004c0007t0004 others(2): Show a0001c0001t0002 a0002c0002t0001 a0004c0007t0004 a0004c0008t0001 a0006c0009t0004	a0001c0001t0002g0382 a0002c0002t0001g0078 a0004c0007t0004g0056 others(2): Show a0001c0001t0002g0382 a0002c0002t0001g0078 a0004c0007t0004g0056 a0004c0008t0001g0044 a0006c0009t0004g0329	5	386	0.0130	20	c.206 others(37): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02622.hp1 HG02896.hp1 others(3): Show HG00621.hp2 HG02622.hp1 HG02896.hp1 HG03139.hp1 HG03669.hp1 NA18971.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0006c0016 a0011c0023	a0001c0001t0002 a0001c0003t0005 a0002c0002t0028 others(2): Show a0001c0001t0002 a0001c0003t0005 a0002c0002t0028 a0006c0016t0004 a0011c0023t0001	a0001c0001t0002g0133 a0001c0003t0005g0267 a0002c0002t0028g0079 others(3): Show a0001c0001t0002g0133 a0001c0003t0005g0267 a0002c0002t0028g0079 a0006c0016t0004g0103 a0006c0016t0004g0136 a0011c0023t0001g0117	6	386	0.0155	20	c.206 others(37): Show c.206-9229_206-9228insAGAAAGAAAGAAGGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18951.hp2 HG02886.hp1 NA18951.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0020 a0001c0001 a0016c0020	a0001c0001t0002 a0016c0020t0004 a0001c0001t0002 a0016c0020t0004	a0001c0001t0002g0152 a0016c0020t0004g0021 a0001c0001t0002g0152 a0016c0020t0004g0021	2	386	0.0052	20	c.206 others(37): Show c.206-9229_206-9228insAGAAAGAAGGAAGGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(13): Show AGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	386	0.0026	20	c.206 others(37): Show c.206-9229_206-9228insAGAAGGAAGGAAGGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282212	G G	GGAAGGGA others(13): Show GGAAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00639.hp2 others(67): Show HG00140.hp2 HG00609.hp1 HG00639.hp2 HG01109.hp2 HG01167.hp2 HG01175.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18998.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp1 NA19068.hp1 NA19070.hp2 NA19078.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0013 a0014 a0023 a0024	a0001c0001 a0001c0003 a0002c0002 others(13): Show a0001c0001 a0001c0003 a0002c0002 a0002c0012 a0003c0004 a0003c0006 a0004c0007 a0004c0008 a0005c0005 a0006c0009 a0006c0033 a0010c0013 a0013c0014 a0014c0019 a0023c0026 a0024c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0003t0001 a0002c0002t0001 a0002c0012t0001 a0003c0004t0001 a0003c0006t0001 a0004c0007t0001 a0004c0008t0003 a0004c0008t0016 a0005c0005t0002 a0005c0005t0004 a0006c0009t0001 a0006c0009t0004 a0006c0033t0008 a0010c0013t0001 a0010c0013t0018 a0013c0014t0002 a0014c0019t0003 a0023c0026t0001 a0024c0036t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0208 others(67): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0300 a0001c0001t0002g0166 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0004g0173 a0001c0001t0022g0204 a0001c0003t0001g0198 a0001c0003t0001g0288 a0002c0002t0001g0175 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0196 a0002c0002t0001g0200 a0002c0002t0001g0205 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0383 a0002c0012t0001g0233 a0002c0012t0001g0246 a0003c0004t0001g0234 a0003c0004t0001g0247 a0003c0004t0001g0294 a0003c0004t0001g0308 a0003c0004t0001g0310 a0003c0006t0001g0104 a0003c0006t0001g0384 a0004c0007t0001g0183 a0004c0008t0003g0165 a0004c0008t0003g0249 a0004c0008t0003g0284 a0004c0008t0003g0298 a0004c0008t0016g0283 a0005c0005t0002g0171 a0005c0005t0002g0172 a0005c0005t0002g0174 a0005c0005t0002g0195 a0005c0005t0002g0197 a0005c0005t0002g0199 a0005c0005t0002g0203 a0005c0005t0002g0206 a0005c0005t0002g0214 a0005c0005t0002g0221 a0005c0005t0002g0222 a0005c0005t0002g0224 a0005c0005t0002g0225 a0005c0005t0002g0226 a0005c0005t0002g0227 a0005c0005t0002g0244 a0005c0005t0002g0357 a0005c0005t0004g0178 a0006c0009t0001g0191 a0006c0009t0001g0194 a0006c0009t0001g0250 a0006c0009t0004g0181 a0006c0033t0008g0169 a0010c0013t0001g0167 a0010c0013t0018g0185 a0013c0014t0002g0168 a0013c0014t0002g0192 a0014c0019t0003g0109 a0014c0019t0003g0110 a0023c0026t0001g0215 a0024c0036t0001g0299	70	386	0.1814	20	c.206 others(37): Show c.206-9107_206-9106insAAGGGAAGGAAGGAAGGAAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300160	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0003 a0014c0019t0003	a0014c0019t0003g0315 a0014c0019t0003g0315	1	386	0.0026	20	c.776 others(37): Show c.776-1701_776-1700insGTGTGTGTGTGTGTGTGTGT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8			chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300161	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03688.hp2 NA18940.hp1 HG00639.hp2 HG03688.hp2 NA18940.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0007 a0004c0008 a0003c0004 a0004c0007 a0004c0008	a0003c0004t0001 a0004c0007t0003 a0004c0008t0003 a0003c0004t0001 a0004c0007t0003 a0004c0008t0003	a0003c0004t0001g0234 a0004c0007t0003g0336 a0004c0008t0003g0298 a0003c0004t0001g0234 a0004c0007t0003g0336 a0004c0008t0003g0298	3	386	0.0078	20	c.776 others(37): Show c.776-1682_776-1681insTGTGTGTGTGTGTGTGTGTG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300178	T T	TGTGTGAG others(13): Show TGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	386	0.0026	20	c.776 others(37): Show c.776-1682_776-1681insTGTGAGAGAGAGAGAGAGAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA4_chrX_7893247_7932413	7899626	C C	CCAGAGAG others(13): Show CCAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG04199.hp1 NA18963.hp2 others(1): Show HG00544.hp2 HG04199.hp1 NA18963.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0065 a0001c0001t0023 a0001c0001t0065	a0001c0001t0023g0115 a0001c0001t0023g0158 a0001c0001t0023g0217 others(1): Show a0001c0001t0023g0115 a0001c0001t0023g0158 a0001c0001t0023g0217 a0001c0001t0065g0148	4	338	0.0118	20	c.10 others(31): Show c.1059_*1060insTCTCTCTCTCTCTCTCTCTG	PNPLA4	ENSG00000006757.12	transcript	ENST00000381042.9	protein_coding	7/7	1059		chrX	TogoVar
PNPLA4_chrX_7893247_7932413	7899626	C C	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG03540.hp1 HG01109.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0084 a0001c0001t0039g0094 a0001c0001t0039g0084 a0001c0001t0039g0094	2	338	0.0059	20	c.10 others(31): Show c.1040_*1059dupTCTCTCTCTCTCTCTCTCTC	PNPLA4	ENSG00000006757.12	transcript	ENST00000381042.9	protein_coding	7/7	1059		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137503424	A A	AGAAAGGA others(13): Show AGAAAGGAGAATGAGGAGGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0041 a0002c0003t0001g0041	1	188	0.0053	20	c.147 others(39): Show c.1474-1698_1474-1697insCCCCTCCTCATTCTCCTTTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503526	G G	GAAGGAGG others(13): Show GAAGGAGGAGGAGGAAGGAGA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	188	0.0053	20	c.147 others(39): Show c.1474-1800_1474-1799insTCTCCTTCCTCCTCCTCCTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108467731	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0140 a0001c0001t0008g0141	2	390	0.0051	20	c.46 others(31): Show c.4669_*4670insTTTTTTTTTTTTTTTTTTTT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding		2685		chr7	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0046 a0001c0001t0030g0046	1	390	0.0026	20	c.161 others(37): Show c.161+1784_161+1785insAATATATATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	390	0.0026	20	c.161 others(37): Show c.161+1784_161+1785insAAAAAATATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0116	1	390	0.0026	20	c.161 others(37): Show c.161+1784_161+1785insAAAAAAAAAAAATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 NA19078.hp2 HG02615.hp1 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0020 a0003c0003t0004 a0003c0003t0020	a0003c0003t0004g0105 a0003c0003t0020g0067 a0003c0003t0004g0105 a0003c0003t0020g0067	2	390	0.0051	20	c.-14 others(31): Show c.-1456_-1455insTTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1435		chr2	TogoVar
POC1B_chr12_89414718_89531047	89476743	T T	TAGATAGA others(13): Show TAGATAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	370	0.0027	20	c.453 others(37): Show c.453-4469_453-4468insGTCTGTCTGTCTGTCTATCT	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11			chr12	TogoVar

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