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
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01255.hp1 HG00642.hp1 HG01069.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0207	3	234	0.0128	15	c.234 others(32): Show c.2342+446_2342+460dupAAAAAAAAAAAAAAA		PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	5978988	A A	AGTTTGAG others(8): Show AGTTTGAGACCGGCCT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0030 a0030	a0030c0048 a0030c0048	a0030c0048t0001 a0030c0048t0001	a0030c0048t0001g0161 a0030c0048t0001g0161	1	408	0.0025	15	c.217 others(32): Show c.2175-307_2175-293dupAGGCCGGTCTCAAAC		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding	12/14						chr7	TogoVar
PMS2_chr7_5965925_6014049	6009972	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 NA18962.hp2 HG00738.hp2 NA18962.hp2	a0002 a0006 a0002 a0006	a0002c0001 a0006c0007 a0002c0001 a0006c0007	a0002c0001t0001 a0006c0007t0006 a0002c0001t0001 a0006c0007t0006	a0002c0001t0001g0194 a0006c0007t0006g0374 a0002c0001t0001g0194 a0006c0007t0006g0374	2	408	0.0049	15	c.-95 others(24): Show c.-954_-953insATATATATATATATA		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					924		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18963.hp2 NA18957.hp2 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0242 a0002c0001t0001g0185 a0001c0002t0002g0242 a0002c0001t0001g0185	2	408	0.0049	15	c.-95 others(24): Show c.-956_-955insATATATATTTTTTTT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0183 a0002c0001t0001g0183	1	408	0.0025	15	c.-95 others(24): Show c.-956_-955insATATATATATTTTTT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(8): Show AAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18973.hp2 NA18950.hp1 NA18973.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0167 a0002c0001t0001g0171 a0002c0001t0001g0167 a0002c0001t0001g0171	2	408	0.0049	15	c.-95 others(24): Show c.-956_-955insATATATATATATTTT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAT others(8): Show AAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 NA18999.hp2 HG03688.hp1 NA18999.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0053 a0002c0001t0001 a0002c0001t0053	a0002c0001t0001g0154 a0002c0001t0053g0187 a0002c0001t0001g0154 a0002c0001t0053g0187	2	408	0.0049	15	c.-95 others(24): Show c.-956_-955insATATATATATATATT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	ATATATAT others(8): Show ATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02165.hp2 NA19088.hp1 HG02129.hp2 HG02165.hp2 NA19088.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0007 a0002c0001 a0006c0007	a0002c0001t0001 a0006c0007t0006 a0002c0001t0001 a0006c0007t0006	a0002c0001t0001g0104 a0002c0001t0001g0155 a0006c0007t0006g0369 a0002c0001t0001g0104 a0002c0001t0001g0155 a0006c0007t0006g0369	3	408	0.0074	15	c.-95 others(24): Show c.-956_-955insATATATATATATATA		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	406	0.0025	15	c.-11 others(34): Show c.-111-2739_-111-2725dupTTTTTTTTTTTTTTT		PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11						chr6	TogoVar
PNKD_chr2_218265519_218351793	218281128	T T	TGTTTTTT others(8): Show TGTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	280	0.0036	15	c.236 others(32): Show c.236+9590_236+9591insTTTGGTTTTTTTTTT		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218281130	T T	TTTTGTTT others(8): Show TTTTGTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01167.hp1 HG01169.hp1 others(4): Show HG00099.hp2 HG01167.hp1 HG01169.hp1 HG02074.hp1 HG02622.hp2 HG03209.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0041 a0001c0002t0002g0035 a0001c0002t0002g0036 others(4): Show a0001c0001t0003g0041 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040	7	280	0.0250	15	c.236 others(32): Show c.236+9584_236+9585insGTTTTTGTTTTGTTT		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218281130	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	280	0.0036	15	c.236 others(32): Show c.236+9585_236+9586insGTTTTGTTTTGTTTT		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218281130	T T	TTTTTTTT others(8): Show TTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(42): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0002t0002 a0001c0002t0017 a0002c0003t0011	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(42): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0046 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0157 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0005g0269 a0001c0001t0007g0273 a0001c0001t0008g0026 a0001c0001t0008g0048 a0001c0001t0008g0129 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0047 a0001c0001t0009g0149 a0001c0001t0012g0268 a0001c0001t0012g0272 a0001c0001t0014g0153 a0001c0001t0014g0159 a0001c0002t0002g0067 a0001c0002t0017g0066 a0002c0003t0011g0146 a0002c0003t0011g0155	45	280	0.1607	15	c.236 others(32): Show c.236+9591_236+9592insTTTTGTTTTTTTTTG		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218281130	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	280	0.0036	15	c.236 others(32): Show c.236+9590_236+9591insTTTTGGTTTTTTTTT		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218281135	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp2 HG02630.hp2 others(5): Show HG01109.hp1 HG02486.hp2 HG02630.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03471.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0010 a0001c0002t0002 a0001c0002t0016 others(1): Show a0001c0001t0010 a0001c0002t0002 a0001c0002t0016 a0001c0006t0002	a0001c0001t0010g0030 a0001c0002t0002g0023 a0001c0002t0002g0029 others(5): Show a0001c0001t0010g0030 a0001c0002t0002g0023 a0001c0002t0002g0029 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0065 a0001c0002t0016g0031 a0001c0006t0002g0034	8	280	0.0286	15	c.236 others(32): Show c.236+9591_236+9592insTTTTGTTTTGTTTTG		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNLDC1_chr6_159795276_159825704	159811737	T T	TCAATAGC others(8): Show TCAATAGCCACTATCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02738.hp1 HG02738.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0134 a0004c0016t0001g0134	1	400	0.0025	15	c.890 others(22): Show c.890_891insCAATAGCCACTATCC	p.Leu others(28): Show p.Leu297_Phe298insAsnSerHisTyrPro	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	11/19	923/1815	891/1596	297/531			chr6	TogoVar
PNLIPRP1_chr10_116585959_116614175	116599256	G G	GAAAATAA others(8): Show GAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01346.hp1 others(27): Show HG00280.hp1 HG00642.hp2 HG01346.hp1 HG02015.hp2 HG02027.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02738.hp2 HG02896.hp1 HG02965.hp1 HG02976.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 NA18522.hp1 NA18906.hp1 NA18946.hp2 NA18969.hp2 NA18978.hp1 NA19055.hp1 NA19064.hp2 NA19083.hp1 NA19087.hp1 NA20752.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 a0011c0015	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 a0002c0003t0001 a0011c0015t0001	a0001c0001t0001g0090 a0001c0002t0001g0048 a0001c0002t0001g0054 others(22): Show a0001c0001t0001g0090 a0001c0002t0001g0048 a0001c0002t0001g0054 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0113 a0001c0002t0001g0201 a0001c0002t0001g0219 a0001c0006t0001g0047 a0001c0006t0001g0224 a0001c0006t0001g0230 a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0006t0001g0236 a0001c0008t0001g0061 a0001c0008t0001g0065 a0001c0008t0001g0231 a0001c0008t0001g0234 a0002c0003t0001g0017 a0002c0003t0001g0037 a0002c0003t0001g0125 a0002c0003t0001g0167 a0002c0003t0001g0206 a0011c0015t0001g0223	30	420	0.0714	15	c.815 others(30): Show c.815-761_815-747dupTAAAATAAAATAAAA		PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIPRP1_chr10_116585959_116614175	116607020	T T	TTAATAAT others(8): Show TTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp1 others(17): Show HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00642.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG03579.hp2 HG04184.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0001 a0001c0002t0001 a0001c0011t0001	a0001c0002t0001g0014 a0001c0002t0001g0033 a0001c0002t0001g0051 others(14): Show a0001c0002t0001g0014 a0001c0002t0001g0033 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0085 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0129 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0177 a0001c0002t0001g0219 a0001c0011t0001g0140 a0001c0011t0001g0141	20	420	0.0476	15	c.134 others(34): Show c.1340+1481_1340+1495dupAATAATAATAATAAT		PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIPRP3_chr10_116422847_116482957	116448690	G G	GTGTTTTG others(8): Show GTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0014 a0003c0013 a0001c0014 a0003c0013	a0001c0014t0002 a0003c0013t0002 a0001c0014t0002 a0003c0013t0002	a0001c0014t0002g0216 a0003c0013t0002g0240 a0001c0014t0002g0216 a0003c0013t0002g0240	2	288	0.0069	15	c.456 others(32): Show c.456+4204_456+4218dupGTTTTGTTTTGTTTT		PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIP_chr10_116540931_116572855	116569043	C C	CATTTATT others(8): Show CATTTATTCTGTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	276	0.0036	15	c.12 others(26): Show c.1245_*1246insATTTATTCTGTATTT		PNLIP	ENSG00000175535.6	transcript	ENST00000369221.2	protein_coding					1189		chr10	TogoVar
PNMA6A_chrX_153067454_153080019	153068488	C C	CAGGAGGA others(8): Show CAGGAGGAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(74): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01934.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02300.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03492.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18943.hp1 NA18945.hp1 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18970.hp1 NA18974.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19007.hp1 NA19056.hp1 NA19066.hp1 NA19067.hp1 NA19076.hp1 NA19085.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0020	a0001c0001 a0001c0005 a0001c0009 others(16): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002 a0003c0003 a0004c0004 a0005c0020 a0006c0019 a0007c0010 a0008c0013 a0009c0024 a0011c0023 a0012c0012 a0014c0007 a0015c0011 a0016c0017 a0017c0021 a0018c0018 a0020c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0029 a0001c0005t0001 a0001c0005t0014 a0001c0005t0019 a0001c0009t0005 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0002t0021 a0002c0002t0022 a0002c0002t0026 a0002c0002t0028 a0003c0003t0003 a0003c0003t0020 a0003c0003t0024 a0004c0004t0001 a0004c0004t0003 a0004c0004t0007 a0004c0004t0023 a0005c0020t0002 a0006c0019t0002 a0007c0010t0025 a0008c0013t0011 a0009c0024t0031 a0011c0023t0027 a0012c0012t0018 a0014c0007t0003 a0015c0011t0001 a0016c0017t0015 a0017c0021t0030 a0018c0018t0008 a0020c0008t0012	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0003g0001 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0005g0001 a0001c0001t0029g0001 a0001c0005t0001g0001 a0001c0005t0014g0001 a0001c0005t0019g0001 a0001c0009t0005g0001 a0002c0002t0002g0001 a0002c0002t0006g0001 a0002c0002t0006g0006 a0002c0002t0009g0005 a0002c0002t0021g0001 a0002c0002t0022g0001 a0002c0002t0026g0001 a0002c0002t0028g0001 a0003c0003t0003g0001 a0003c0003t0020g0003 a0003c0003t0024g0001 a0004c0004t0001g0001 a0004c0004t0003g0001 a0004c0004t0007g0001 a0004c0004t0023g0001 a0005c0020t0002g0001 a0006c0019t0002g0001 a0007c0010t0025g0001 a0008c0013t0011g0013 a0009c0024t0031g0009 a0011c0023t0027g0014 a0012c0012t0018g0001 a0014c0007t0003g0001 a0015c0011t0001g0001 a0016c0017t0015g0001 a0017c0021t0030g0001 a0018c0018t0008g0001 a0020c0008t0012g0012	77	86	0.8954	15	c.-42 others(26): Show c.-4247_-4246insAGGAGGAGGGGGAGG		PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding					3965		chrX	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(8): Show GTTTTTTGTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG03041.hp1 HG02615.hp2 HG02895.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0046 a0001c0002t0003g0002 a0001c0002t0003g0046	3	454	0.0066	15	c.-20 others(26): Show c.-2004_-2003insAAAAAAAACAAAAAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46473263	T T	TTTTTTTT others(8): Show TTTTTTTTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01361.hp1 HG01361.hp2 others(9): Show HG01175.hp2 HG01361.hp1 HG01361.hp2 HG01952.hp1 HG02293.hp1 HG02293.hp2 HG02647.hp2 NA18949.hp2 NA18957.hp2 NA18972.hp1 NA19012.hp2 NA19077.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0003c0004t0010	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0004g0004 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0004g0004 a0001c0001t0008g0010 a0001c0001t0023g0034 a0003c0004t0010g0013	12	454	0.0264	15	c.-20 others(26): Show c.-2007_-2006insCAACAACAAAAAAAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1701		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46473264	T T	TTTTTTTT others(8): Show TTTTTTTTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA18959.hp1 HG02602.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0005g0006 a0001c0001t0002g0001 a0001c0001t0005g0006	2	454	0.0044	15	c.-20 others(26): Show c.-2008_-2007insCAACAACAAAAAAAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1702		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46473266	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02135.hp2 HG03669.hp1 others(2): Show HG00597.hp2 HG02135.hp2 HG03669.hp1 HG04204.hp2 NA19076.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0002 a0001c0001t0006 a0011c0010t0006 a0001c0001t0002 a0001c0001t0006 a0011c0010t0006	a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0006g0015 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0031 a0001c0001t0006g0015 a0011c0010t0006g0056	5	454	0.0110	15	c.-20 others(26): Show c.-2010_-2009insCAACAACAACAACAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1704		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46473267	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	454	0.0022	15	c.-20 others(26): Show c.-2011_-2010insCAACAACAACAACAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1705		chr19	TogoVar
PNN_chr14_39170254_39188220	39187618	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	444	0.0023	15	c.57 others(26): Show c.5755_*5756insAAAAAAAAAAAAAAA		PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding					4399		chr14	TogoVar
PNO1_chr2_68152888_68181238	68169325	G G	GGACATAT others(8): Show GGACATATGTACTTGT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0100 a0002c0002t0002g0100	1	444	0.0023	15	c.621 others(32): Show c.621-4021_621-4020insACATATGTACTTGTG		PNO1	ENSG00000115946.8	transcript	ENST00000263657.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNOC_chr8_28312268_28348351	28330362	C C	CTTTATTT others(8): Show CTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02004.hp2 HG02622.hp2 others(3): Show HG01243.hp2 HG02004.hp2 HG02622.hp2 HG02630.hp2 HG02976.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0218 others(3): Show a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0334 a0001c0001t0001g0335	6	424	0.0142	15	c.126 others(32): Show c.126+1103_126+1117dupATTTTATTTTATTTT		PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36282044	G G	GGAAAGAA others(8): Show GGAAAGAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0030 a0030	a0030c0027 a0030c0027	a0030c0027t0001 a0030c0027t0001	a0030c0027t0001g0215 a0030c0027t0001g0215	1	386	0.0026	15	c.206 others(32): Show c.206-9269_206-9268insGAAAGAAAGAAAGAA		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(8): Show AGAAAGAAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0381 a0005c0005t0001g0381	1	386	0.0026	15	c.206 others(32): Show c.206-9229_206-9228insAGAAAGAAGAAGGAA		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282090	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	386	0.0026	15	c.206 others(32): Show c.206-9229_206-9228insAGAAAGAAAGAAAGA		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282094	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19070.hp1 HG02004.hp1 NA19070.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0017 a0001c0001 a0015c0017	a0001c0001t0002 a0015c0017t0002 a0001c0001t0002 a0015c0017t0002	a0001c0001t0002g0039 a0015c0017t0002g0239 a0001c0001t0002g0039 a0015c0017t0002g0239	2	386	0.0052	15	c.206 others(32): Show c.206-9225_206-9224insAGAAAGAAAGAAAGA		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA3_chr22_43918805_43952582	43941294	C C	CTTCCTCT others(8): Show CTTCCTCTGAGTGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(175): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0006 a0008 a0011 a0013 a0015 a0017 a0018	a0001c0001 a0001c0008 a0002c0002 others(9): Show a0001c0001 a0001c0008 a0002c0002 a0005c0004 a0006c0005 a0008c0009 a0011c0014 a0013c0016 a0013c0017 a0015c0023 a0017c0018 a0018c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0008t0002 a0001c0008t0027 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0005c0004t0002 a0006c0005t0004 a0008c0009t0002 a0011c0014t0002 a0013c0016t0002 a0013c0017t0002 a0015c0023t0015 a0017c0018t0004 a0018c0015t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(146): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0146 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0280 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0002g0302 a0001c0001t0002g0318 a0001c0001t0004g0009 a0001c0001t0004g0027 a0001c0001t0004g0033 a0001c0001t0004g0037 a0001c0001t0004g0043 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0071 a0001c0001t0004g0079 a0001c0001t0004g0116 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0247 a0001c0001t0004g0250 a0001c0001t0004g0263 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0278 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0300 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0317 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0329 a0001c0001t0008g0138 a0001c0001t0009g0016 a0001c0001t0009g0038 a0001c0001t0009g0054 a0001c0001t0009g0254 a0001c0001t0014g0042 a0001c0001t0015g0150 a0001c0001t0016g0025 a0001c0001t0016g0265 a0001c0001t0019g0170 a0001c0001t0022g0080 a0001c0001t0024g0326 a0001c0001t0025g0139 a0001c0001t0028g0025 a0001c0008t0002g0003 a0001c0008t0002g0004 a0001c0008t0002g0005 a0001c0008t0002g0173 a0001c0008t0002g0289 a0001c0008t0027g0148 a0002c0002t0002g0209 a0002c0002t0002g0240 a0002c0002t0004g0078 a0002c0002t0004g0246 a0002c0002t0008g0032 a0002c0002t0008g0085 a0002c0002t0008g0143 a0002c0002t0008g0144 a0005c0004t0002g0015 a0005c0004t0002g0028 a0005c0004t0002g0060 a0005c0004t0002g0110 a0005c0004t0002g0112 a0005c0004t0002g0113 a0005c0004t0002g0187 a0006c0005t0004g0186 a0008c0009t0002g0006 a0008c0009t0002g0190 a0008c0009t0002g0191 a0008c0009t0002g0282 a0011c0014t0002g0003 a0011c0014t0002g0004 a0013c0016t0002g0214 a0013c0017t0002g0204 a0015c0023t0015g0041 a0017c0018t0004g0264 a0018c0015t0002g0056	178	420	0.4238	15	c.111 others(34): Show c.1112+1178_1112+1179insGTGGGTTTCCTCTGA		PNPLA3	ENSG00000100344.11	transcript	ENST00000216180.8	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
PNPLA8_chr7_108465417_108531135	108467731	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03139.hp1 HG02145.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0360 a0001c0001t0009g0361 a0001c0001t0009g0360 a0001c0001t0009g0361	2	390	0.0051	15	c.46 others(26): Show c.4669_*4670insTTTTTTTTTTTTTTT		PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding					2685		chr7	TogoVar
PNPT1_chr2_55629061_55698844	55657856	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0244 a0002c0002t0002g0244	1	390	0.0026	15	c.128 others(34): Show c.1285-1500_1285-1486dupTTTTTTTTTTTTTTT		PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	15/27						chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0369 a0002c0002t0001g0369	1	390	0.0026	15	c.161 others(32): Show c.161+1784_161+1785insAAATATATATATATA		PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27						chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691879	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0106 a0008c0007t0004g0106	1	390	0.0026	15	c.161 others(32): Show c.161+1783_161+1784insTATATATATATATAT		PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27						chr2	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02109.hp2 HG02523.hp1 others(9): Show HG02027.hp2 HG02109.hp2 HG02523.hp1 HG02572.hp2 HG02922.hp1 HG02965.hp1 HG03516.hp1 HG03579.hp1 NA18906.hp2 NA18946.hp2 NA18984.hp1 NA19091.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0017 a0008c0007	a0001c0001t0024 a0002c0002t0001 a0003c0003t0004 others(4): Show a0001c0001t0024 a0002c0002t0001 a0003c0003t0004 a0003c0003t0032 a0003c0003t0035 a0004c0017t0001 a0008c0007t0004	a0001c0001t0024g0193 a0002c0002t0001g0045 a0003c0003t0004g0081 others(9): Show a0001c0001t0024g0193 a0002c0002t0001g0045 a0003c0003t0004g0081 a0003c0003t0004g0085 a0003c0003t0004g0088 a0003c0003t0004g0092 a0003c0003t0004g0102 a0003c0003t0004g0103 a0003c0003t0032g0109 a0003c0003t0035g0077 a0004c0017t0001g0042 a0008c0007t0004g0106	12	390	0.0308	15	c.-14 others(26): Show c.-1456_-1455insTTTTTTTTTTTTTTT		PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding					1435		chr2	TogoVar
PODNL1_chr19_13926187_13943417	13939868	C C	CAATAATA others(8): Show CAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02818.hp2 HG02886.hp1 others(5): Show HG01109.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0012 a0001c0001t0001g0051	8	432	0.0185	15	c.-17 others(26): Show c.-1702_-1688dupATTATTATTATTATT		PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding					1452		chr19	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(8): Show ATATATATACATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0215 a0001c0002t0004g0215	1	227	0.0044	15	c.358 others(30): Show c.358-938_358-937insGTGTATGTATATATA		POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16						chrX	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(8): Show ATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp2 NA19075.hp1 HG01243.hp1 HG02970.hp2 NA19075.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0011 a0001c0002 a0010c0011	a0001c0002t0004 a0001c0002t0007 a0010c0011t0001 a0001c0002t0004 a0001c0002t0007 a0010c0011t0001	a0001c0002t0004g0014 a0001c0002t0007g0178 a0010c0011t0001g0018 a0001c0002t0004g0014 a0001c0002t0007g0178 a0010c0011t0001g0018	3	227	0.0132	15	c.358 others(30): Show c.358-938_358-937insGTGTGTATATATATA		POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16						chrX	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(8): Show ATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	227	0.0044	15	c.358 others(30): Show c.358-938_358-937insGTGTATATATATATA		POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16						chrX	TogoVar
POGLUT1_chr3_119463963_119499708	119495225	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0008 a0001c0001t0017g0008	1	422	0.0024	15	c.27 others(26): Show c.2787_*2788insAAAAAAAAAAAAAAA		POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding					518		chr3	TogoVar
POGZ_chr1_151397724_151464494	151430904	C C	CTTTATTT others(8): Show CTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03098.hp2 HG03139.hp1 HG01433.hp1 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0005g0172 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0005g0172	3	320	0.0094	15	c.284 others(28): Show c.284-78_284-64dupATAAAATAAAATAAA		POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	3/18						chr1	TogoVar
POLA1_chrX_24688918_25001986	24753317	C C	CTATTTTA others(8): Show CTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	197	0.0051	15	c.296 others(34): Show c.2964+4363_2964+4377dupTTTTATTTTATTTTA		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24971931	G G	GATTTTAT others(8): Show GATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01928.hp1 HG02071.hp1 others(8): Show HG00544.hp1 HG01928.hp1 HG02071.hp1 HG02258.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03139.hp1 HG03239.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0001g0185 a0001c0001t0001g0194	11	197	0.0558	15	c.426 others(36): Show c.4262-23832_4262-23818dupTTTTATTTTATTTTA		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	36/36					INFO_REALIGN_3_PRIME	chrX	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	314	0.0032	15	c.120 others(32): Show c.120-1607_120-1606insAAATATATATATATA		POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	314	0.0032	15	c.120 others(32): Show c.120-1608_120-1607insTATATATATATATAT		POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13						chr8	TogoVar
POLD1_chr19_50379347_50423014	50401392	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0122 a0001c0005t0001g0122	1	336	0.0030	15	c.317 others(30): Show c.317-386_317-385insATATATATATATATA		POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26						chr19	TogoVar

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