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	cds cds pos length	aa aa pos length	distance	status	chr	external
PLEKHG4B_chr5_87168_194966	134058	AATATATA others(19): Show AATATATATATATGATAGAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18973.hp1 NA18973.hp2 others(1): Show HG02647.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0001c0039 a0019c0014 a0001c0001 a0001c0039 a0019c0014	a0001c0001t0001 a0001c0039t0006 a0019c0014t0009 a0001c0001t0001 a0001c0039t0006 a0019c0014t0009	a0001c0001t0001g0082 a0001c0039t0006g0045 a0019c0014t0009g0016 others(1): Show a0001c0001t0001g0082 a0001c0039t0006g0045 a0019c0014t0009g0016 a0019c0014t0009g0019	4	210	0.0191	-26	c.244 others(43): Show c.244-5412_244-5387delGATAGAATATATATATATATATATAT		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165152	ACACTAAT others(19): Show ACACTAATGCTCTGACGGGGCGGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01515.hp1 others(1): Show HG01243.hp1 HG01256.hp1 HG01515.hp1 HG01928.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0017 a0003c0009t0119 a0003c0009t0121 a0003c0009t0017 a0003c0009t0119 a0003c0009t0121	a0003c0009t0017g0088 a0003c0009t0017g0093 a0003c0009t0119g0049 others(1): Show a0003c0009t0017g0088 a0003c0009t0017g0093 a0003c0009t0119g0049 a0003c0009t0121g0092	4	210	0.0191	-26	c.347 others(45): Show c.3476+1608_3476+1633delTAATGCTCTGACGGGGCGGGGCTCAC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19				INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165290	ACACTAAC others(19): Show ACACTAACGCTCTGACGGGGCGGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0011 a0002c0003t0002 a0002c0003t0011	a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0011g0210 a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0011g0210	3	210	0.0143	-26	c.347 others(45): Show c.3476+1746_3476+1771delTAACGCTCTGACGGGGCGGGGCTCAC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19				INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165542	ACACTAAT others(19): Show ACACTAATGCTCTGACGGGGCGGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0119 a0004c0006t0002g0119	1	210	0.0048	-26	c.347 others(45): Show c.3476+1998_3476+2023delTAATGCTCTGACGGGGCGGGGCTCAC		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19				INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166481	CGGGGCGG others(19): Show CGGGGCGGGGCTCACAGTAATCTTCTG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0041 a0041	a0041c0049 a0041c0049	a0041c0049t0131 a0041c0049t0131	a0041c0049t0131g0067 a0041c0049t0131g0067	1	210	0.0048	-26	c.347 others(45): Show c.3477-2858_3477-2833delGGGGCGGGGCTCACAGTAATCTTCTG		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					chr5	TogoVar
PLEKHM2_chr1_15679320_15739769	15706467	ACGATCTC others(19): Show ACGATCTCGGCTCACTGCAACCTCTGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02976.hp2 others(8): Show HG01891.hp1 HG02257.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0016 a0002c0002 a0003c0016	a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 others(2): Show a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0003c0016t0012	a0002c0002t0008g0005 a0002c0002t0008g0028 a0002c0002t0008g0030 others(7): Show a0002c0002t0008g0005 a0002c0002t0008g0028 a0002c0002t0008g0030 a0002c0002t0011g0004 a0002c0002t0011g0005 a0002c0002t0012g0026 a0002c0002t0012g0027 a0002c0002t0013g0029 a0002c0002t0013g0031 a0003c0016t0012g0025	11	336	0.0327	-26	c.61- others(41): Show c.61-9768_61-9743delGATCTCGGCTCACTGCAACCTCTGCC		PLEKHM2	ENSG00000116786.13	transcript	ENST00000375799.8	protein_coding	1/19				INFO_REALIGN_3_PRIME	chr1	TogoVar
PLEKHN1_chr1_961482_980865	971305	CCCACCCC others(19): Show CCCACCCCCACCCACCCAGGAGCAGTG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp1	a0012 a0012	a0012c0048 a0012c0048	a0012c0048t0001 a0012c0048t0001	a0012c0048t0001g0140 a0012c0048t0001g0140	1	422	0.0024	-26	c.709 others(36): Show c.709-18_716delCCACCCCCACCCACCCAGGAGCAGTG	p.Glu others(5): Show p.Glu237fs	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding	8/16	709/1836	237/611			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977725	CCGACCAA others(19): Show CCGACCAACCCCGGGAACCGCCTCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0032 a0002c0002t0038g0032	1	422	0.0024	-26	c.31 others(37): Show c.3151_*3176delCGACCAACCCCGGGAACCGCCTCCCA		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding				1861		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977780	AATCCCCC others(19): Show AATCCCCCCAACCCCGGGAACTGCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 NA20300.hp1 HG00642.hp1 NA20300.hp1	a0001 a0001	a0001c0009 a0001c0010 a0001c0009 a0001c0010	a0001c0009t0009 a0001c0010t0023 a0001c0009t0009 a0001c0010t0023	a0001c0009t0009g0036 a0001c0010t0023g0069 a0001c0009t0009g0036 a0001c0010t0023g0069	2	422	0.0047	-26	c.32 others(37): Show c.3206_*3231delATCCCCCCAACCCCGGGAACTGCCTC		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding				1916		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977838	AATCCCCC others(19): Show AATCCCCCCAACCCCGGGAACTGCCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02071.hp1 HG02273.hp2 others(7): Show HG01361.hp2 HG02071.hp1 HG02273.hp2 HG02523.hp2 HG02698.hp2 NA18952.hp2 NA18960.hp1 NA18964.hp2 NA19068.hp1 NA19090.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0009 a0011	a0001c0018 a0002c0002 a0004c0004 others(3): Show a0001c0018 a0002c0002 a0004c0004 a0006c0013 a0009c0020 a0011c0032	a0001c0018t0003 a0002c0002t0038 a0004c0004t0003 others(3): Show a0001c0018t0003 a0002c0002t0038 a0004c0004t0003 a0006c0013t0007 a0009c0020t0003 a0011c0032t0003	a0001c0018t0003g0013 a0002c0002t0038g0032 a0004c0004t0003g0002 others(5): Show a0001c0018t0003g0013 a0002c0002t0038g0032 a0004c0004t0003g0002 a0004c0004t0003g0013 a0006c0013t0007g0002 a0006c0013t0007g0109 a0009c0020t0003g0002 a0011c0032t0003g0002	10	422	0.0237	-26	c.32 others(37): Show c.3264_*3289delATCCCCCCAACCCCGGGAACTGCCTC		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding				1974		chr1	TogoVar
PLEKHS1_chr10_113746682_113788429	113785313	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA19010.hp1 HG03130.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0003 a0001c0001t0001g0011	2	402	0.0050	-26	c.45 others(37): Show c.4533_*4558delATATATATATATATATATATATATAT		PLEKHS1	ENSG00000148735.16	transcript	ENST00000694986.1	protein_coding				1885		chr10	TogoVar
PLGRKT_chr9_5352971_5442925	5442003	TGTATATA others(19): Show TGTATATACATGTGTGTATATACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00621.hp2 others(58): Show HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG01099.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01952.hp2 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18994.hp1 NA18995.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19082.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(57): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0312 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0368 a0001c0001t0001g0372 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0389 a0001c0001t0002g0391 a0002c0002t0001g0322 a0002c0002t0001g0326 a0002c0002t0001g0332 a0002c0006t0001g0325	61	414	0.1473	-26	c.-43 others(37): Show c.-4373_-4348delGTGTGTATATACACACATGTATATAC		PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding				4079		chr9	TogoVar
PLIN3_chr19_4833341_4872667	4864098	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(113): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02698.hp2 HG02886.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19078.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0010 others(2): Show a0001 a0002 a0010 a0012 a0013	a0001c0002 a0001c0003 a0002c0001 others(6): Show a0001c0002 a0001c0003 a0002c0001 a0002c0006 a0002c0007 a0002c0018 a0010c0021 a0012c0027 a0013c0019	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005 a0002c0001t0014 a0002c0006t0001 a0002c0006t0002 a0002c0006t0006 a0002c0007t0001 a0002c0018t0001 a0010c0021t0002 a0012c0027t0001 a0013c0019t0001	a0001c0002t0001g0300 a0001c0002t0002g0333 a0001c0002t0002g0433 others(111): Show a0001c0002t0001g0300 a0001c0002t0002g0333 a0001c0002t0002g0433 a0001c0003t0001g0071 a0001c0003t0001g0315 a0001c0003t0001g0320 a0001c0003t0001g0334 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0339 a0001c0003t0001g0392 a0002c0001t0001g0010 a0002c0001t0001g0070 a0002c0001t0001g0279 a0002c0001t0001g0292 a0002c0001t0001g0293 a0002c0001t0001g0294 a0002c0001t0001g0295 a0002c0001t0001g0297 a0002c0001t0001g0298 a0002c0001t0001g0299 a0002c0001t0001g0302 a0002c0001t0001g0316 a0002c0001t0001g0317 a0002c0001t0001g0318 a0002c0001t0001g0321 a0002c0001t0001g0322 a0002c0001t0001g0325 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0332 a0002c0001t0001g0345 a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0001g0350 a0002c0001t0001g0351 a0002c0001t0001g0352 a0002c0001t0001g0354 a0002c0001t0001g0355 a0002c0001t0001g0356 a0002c0001t0001g0357 a0002c0001t0001g0358 a0002c0001t0001g0359 a0002c0001t0001g0360 a0002c0001t0001g0361 a0002c0001t0001g0362 a0002c0001t0001g0363 a0002c0001t0001g0365 a0002c0001t0001g0367 a0002c0001t0001g0368 a0002c0001t0001g0369 a0002c0001t0001g0370 a0002c0001t0001g0371 a0002c0001t0001g0372 a0002c0001t0001g0373 a0002c0001t0001g0374 a0002c0001t0001g0375 a0002c0001t0001g0376 a0002c0001t0001g0377 a0002c0001t0001g0379 a0002c0001t0001g0380 a0002c0001t0001g0381 a0002c0001t0001g0382 a0002c0001t0001g0384 a0002c0001t0001g0385 a0002c0001t0001g0386 a0002c0001t0001g0387 a0002c0001t0001g0388 a0002c0001t0001g0389 a0002c0001t0001g0390 a0002c0001t0001g0393 a0002c0001t0001g0394 a0002c0001t0001g0395 a0002c0001t0001g0397 a0002c0001t0001g0399 a0002c0001t0001g0400 a0002c0001t0002g0009 a0002c0001t0002g0296 a0002c0001t0002g0324 a0002c0001t0002g0329 a0002c0001t0002g0343 a0002c0001t0002g0344 a0002c0001t0002g0353 a0002c0001t0002g0364 a0002c0001t0002g0366 a0002c0001t0002g0391 a0002c0001t0002g0396 a0002c0001t0002g0398 a0002c0001t0002g0425 a0002c0001t0002g0426 a0002c0001t0004g0383 a0002c0001t0005g0342 a0002c0001t0014g0428 a0002c0006t0001g0378 a0002c0006t0001g0422 a0002c0006t0002g0340 a0002c0006t0002g0417 a0002c0006t0002g0423 a0002c0006t0002g0424 a0002c0006t0006g0301 a0002c0006t0006g0303 a0002c0006t0006g0421 a0002c0007t0001g0341 a0002c0018t0001g0420 a0010c0021t0002g0427 a0012c0027t0001g0319 a0013c0019t0001g0323	116	446	0.2601	-26	c.-17 others(43): Show c.-17-2713_-17-2688delACACACACACACACACACACACACAC		PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding	1/7					chr19	TogoVar
PLIN5_chr19_4517531_4540224	4529467	TACATATA others(19): Show TACATATACATATATACACATATACAC	T T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	412	0.0024	-26	c.340 others(41): Show c.340-240_340-215delGTGTATATGTGTATATATGTATATGT		PLIN5	ENSG00000214456.8	transcript	ENST00000381848.7	protein_coding	4/7					chr19	TogoVar
PLK3_chr1_44795377_44810990	44796400	GATATAAA others(19): Show GATATAAAGATATATAAATATATAAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	384	0.0026	-26	c.-40 others(37): Show c.-4063_-4038delATATAAAGATATATAAATATATAAAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding				3976		chr1	TogoVar
PLK4_chr4_127875893_127904224	127894821	ATATTTTC others(19): Show ATATTTTCGTTAAAAAATGTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	364	0.0028	-26	c.256 others(43): Show c.2563-129_2563-104delTTTTCGTTAAAAAATGTTTGTTTTTA		PLK4	ENSG00000142731.11	transcript	ENST00000270861.10	protein_coding	13/15				INFO_REALIGN_3_PRIME	chr4	TogoVar
PLPP3_chr1_56489761_56584563	56576331	ATACTGAC others(19): Show ATACTGACGGTCTTAGGCAAAAAGTGG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0007 a0001c0001t0013g0007	1	336	0.0030	-26	c.139 others(43): Show c.139+2521_139+2546delCCACTTTTTGCCTAAGACCGTCAGTA		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5					chr1	TogoVar
PLPP4_chr10_120452227_120597065	120537992	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02300.hp2 NA18963.hp1 others(2): Show HG00735.hp2 HG02300.hp2 NA18963.hp1 NA19074.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0005 a0001c0001t0060 a0001c0011t0003 a0001c0001t0005 a0001c0001t0060 a0001c0011t0003	a0001c0001t0005g0186 a0001c0001t0005g0260 a0001c0001t0005g0266 others(2): Show a0001c0001t0005g0186 a0001c0001t0005g0260 a0001c0001t0005g0266 a0001c0001t0060g0095 a0001c0011t0003g0305	5	328	0.0152	-26	c.445 others(45): Show c.445+16933_445+16958delCTCTCTCTCTCTCTCTCTCTCTCTCT		PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	5/6				INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPP4_chr10_120452227_120597065	120574160	ACACACAC others(19): Show ACACACACACTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0237 a0001c0001t0005g0237	1	328	0.0031	-26	c.446 others(41): Show c.446-969_446-944delACACACACTCTCTCTCTCTCTCTCTC		PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	5/6				INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPPR1_chr9_101023727_101330135	101180123	TATATATA others(19): Show TATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	203	0.0049	-26	c.-45 others(43): Show c.-45-5325_-45-5300delTATATATATATATATATATACACACA		PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7				INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR5_chr1_98885245_99009861	98921737	AAATGATT others(19): Show AAATGATTTGTTTTATATACTTAAATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0214 a0001c0001t0017g0214	1	280	0.0036	-26	c.798 others(41): Show c.798+119_798+144delCATTTAAGTATATAAAACAAATCATT		PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	4/5					chr1	TogoVar
PLPPR5_chr1_98885245_99009861	99003056	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0176 a0001c0002t0014g0176	1	280	0.0036	-26	c.237 others(43): Show c.237+1353_237+1378delATATATATATATATATATATATATAT		PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	1/5					chr1	TogoVar
PLS1_chr3_142591393_142718664	142600894	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	276	0.0036	-26	c.-37 others(43): Show c.-37+4387_-37+4412delATATATATATATATATATATATTTTT		PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15				INFO_REALIGN_3_PRIME	chr3	TogoVar
PLXDC1_chr17_39058313_39156637	39153334	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0277 a0001c0005t0009g0277	1	320	0.0031	-26	c.-19 others(37): Show c.-1923_-1898delACACACACACACACACACACACACAC		PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding				1698		chr17	TogoVar
PLXDC2_chr10_19811432_20294856	20044205	CTCTCTGT others(19): Show CTCTCTGTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18964.hp2 HG02897.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0088 a0001c0001t0025 a0001c0001t0088	a0001c0001t0025g0067 a0001c0001t0088g0143 a0001c0001t0025g0067 a0001c0001t0088g0143	2	180	0.0111	-26	c.325 others(43): Show c.325-2660_325-2635delCTGTCTTTCTTTCTTTCTTTCTTTCT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13				INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044209	CTGTCTTT others(19): Show CTGTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0104 a0001c0001t0097g0104	1	180	0.0056	-26	c.325 others(43): Show c.325-2658_325-2633delGTCTTTCTTTCTTTCTTTCTTTCTTT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13				INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20051395	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0082 a0001c0001t0096g0082	1	180	0.0056	-26	c.471 others(43): Show c.471+4403_471+4428delATATATATATATATATATATATATAT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	3/13				INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126332	CGTTATAT others(19): Show CGTTATATAATACATATATACATATGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02572.hp1 HG02572.hp2 others(5): Show HG01192.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0036 others(4): Show a0001c0001t0001 a0001c0001t0030 a0001c0001t0036 a0001c0001t0050 a0001c0001t0051 a0001c0001t0123 a0001c0001t0125	a0001c0001t0001g0009 a0001c0001t0001g0152 a0001c0001t0030g0001 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0152 a0001c0001t0030g0001 a0001c0001t0036g0166 a0001c0001t0050g0125 a0001c0001t0051g0179 a0001c0001t0123g0046 a0001c0001t0125g0055	8	180	0.0444	-26	c.542 others(45): Show c.542-16918_542-16893delACATATGTGTTATATAATACATATAT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13				INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA4_chr7_132118340_132581470	132282610	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00544.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0010 a0001c0004t0001 a0001c0002t0010 a0001c0004t0001	a0001c0002t0010g0057 a0001c0004t0001g0050 a0001c0002t0010g0057 a0001c0004t0001g0050	2	88	0.0227	-26	c.150 others(47): Show c.1503+15455_1503+15480delTTTTTTTTTTTTTTTTTTTTTTTT TT		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	4/31					chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132563979	CCTTCTCC others(19): Show CCTTCTCCTCCTCCTCCTTCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0043 a0001c0025t0004g0043	1	88	0.0114	-26	c.-87 others(45): Show c.-87+12417_-87+12442delAGGAGGAGAAGGAGGAGGAGGAGAAG		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31					chr7	TogoVar
PLXNB3_chrX_153759249_153784341	153776516	GGGCAGGG others(19): Show GGGCAGGGCGGGGCTGGGGCGGGGCGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02109.hp1 others(24): Show HG01243.hp1 HG01261.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03579.hp1 NA18947.hp2 NA18961.hp1 NA18975.hp1 NA20300.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0014 a0016	a0001c0010 a0003c0003 a0004c0005 others(4): Show a0001c0010 a0003c0003 a0004c0005 a0004c0012 a0004c0054 a0014c0038 a0016c0048	a0001c0010t0001 a0003c0003t0001 a0004c0005t0001 others(6): Show a0001c0010t0001 a0003c0003t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0012t0001 a0004c0054t0001 a0014c0038t0001 a0016c0048t0001	a0001c0010t0001g0009 a0001c0010t0001g0108 a0003c0003t0001g0010 others(12): Show a0001c0010t0001g0009 a0001c0010t0001g0108 a0003c0003t0001g0010 a0004c0005t0001g0009 a0004c0005t0001g0011 a0004c0005t0001g0017 a0004c0005t0001g0028 a0004c0005t0001g0051 a0004c0005t0001g0082 a0004c0005t0002g0086 a0004c0005t0003g0028 a0004c0012t0001g0026 a0004c0054t0001g0043 a0014c0038t0001g0017 a0016c0048t0001g0077	27	308	0.0877	-26	c.483 others(43): Show c.4833+104_4833+129delGGGCGAGGCAGGGCGGGGCTGGGGCG		PLXNB3	ENSG00000198753.12	transcript	ENST00000361971.10	protein_coding	28/35				INFO_REALIGN_3_PRIME	chrX	TogoVar
PMM1_chr22_41571900_41594840	41594360	GGGGGGTG others(19): Show GGGGGGTGGGGGAGGCGGTGGGGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG02004.hp2 others(1): Show HG00673.hp2 HG01109.hp1 HG02004.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0049 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0049 a0001c0001t0001g0050	4	330	0.0121	-26	c.-45 others(37): Show c.-4581_-4556delACCCCCCCACCGCCTCCCCCACCCCC		PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding				4521		chr22	TogoVar
PMM2_chr16_8792839_8854325	8827719	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0312 a0001c0001t0004g0312	1	408	0.0025	-26	c.639 others(45): Show c.639+14630_639+14655delATATATATATATATATATATATATAT		PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7				INFO_REALIGN_3_PRIME	chr16	TogoVar
PMS1_chr2_189779450_189882629	189864683	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20905.hp1 HG02622.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0111 a0001c0001t0002g0080 a0001c0001t0002g0111	2	234	0.0086	-26	c.234 others(43): Show c.2342+457_2342+482delAAAATATATATATATATATATATATA		PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12				INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864685	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01258.hp2 HG01346.hp1 others(20): Show HG00733.hp2 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02976.hp2 HG03139.hp2 HG06807.hp2 NA18953.hp1 NA18967.hp1 NA20129.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0009 a0007c0011 a0001c0001 a0004c0009 a0007c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0004c0009t0002 a0007c0011t0004	a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 others(20): Show a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0004g0061 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0072 a0001c0001t0005g0119 a0001c0001t0007g0217 a0004c0009t0002g0073 a0007c0011t0004g0070	23	234	0.0983	-26	c.234 others(43): Show c.2342+459_2342+484delAATATATATATATATATATATATATA		PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12				INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKP_chr19_49856204_49872576	49872338	ATGGTGAG others(19): Show ATGGTGAGGAGGCCTGCCATTGGTAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	430	0.0023	-26	c.-49 others(37): Show c.-4909_-4884delATTACCAATGGCAGGCCTCCTCACCA		PNKP	ENSG00000039650.12	transcript	ENST00000322344.8	protein_coding				4763		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137524823	GTGGATGC others(19): Show GTGGATGCCCCGTGGAATGAGTTTCCT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG03540.hp2 HG02647.hp1 HG03209.hp1 HG03540.hp2	a0005 a0005	a0005c0007 a0005c0064 a0005c0007 a0005c0064	a0005c0007t0002 a0005c0064t0002 a0005c0007t0002 a0005c0064t0002	a0005c0007t0002g0181 a0005c0007t0002g0182 a0005c0064t0002g0132 a0005c0007t0002g0181 a0005c0007t0002g0182 a0005c0064t0002g0132	3	188	0.0160	-26	c.748 others(43): Show c.748-1992_748-1967delAGGAAACTCATTCCACGGGGCATCCA		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	8/34					chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108505300	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00597.hp1 others(61): Show HG00140.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01943.hp1 HG01978.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02602.hp2 HG02738.hp2 HG03225.hp2 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG04199.hp1 NA18612.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA19000.hp2 NA19001.hp2 NA19007.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19080.hp2 NA19082.hp1 NA19087.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0006 a0007c0007 a0001c0001 a0002c0006 a0007c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0025 a0002c0006t0001 a0007c0007t0028	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(57): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0283 a0001c0001t0001g0363 a0001c0001t0007g0163 a0001c0001t0007g0173 a0001c0001t0007g0192 a0001c0001t0010g0133 a0001c0001t0010g0239 a0001c0001t0014g0233 a0001c0001t0025g0364 a0002c0006t0001g0207 a0007c0007t0028g0228	64	390	0.1641	-26	c.120 others(45): Show c.1207-2684_1207-2659delTATATATATATATATATATATATATA		PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10					chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505328	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18956.hp1 NA18982.hp2 HG04115.hp2 NA18956.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0227 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0227	3	390	0.0077	-26	c.120 others(45): Show c.1207-2712_1207-2687delAATATATATATATATATATATATATA		PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10					chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108518720	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18964.hp1 HG00673.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0234 a0001c0001t0014g0233 a0001c0001t0001g0234 a0001c0001t0014g0233	2	390	0.0051	-26	c.-84 others(43): Show c.-84+2730_-84+2755delATATATATATATATATATATATATAT		PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	2/10					chr7	TogoVar
PNPT1_chr2_55629061_55698844	55654819	TCCTGCCT others(19): Show TCCTGCCTTGGCCTCCCAAGGCTCATG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01175.hp2 others(43): Show HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp2 HG04184.hp1 NA18612.hp2 NA18906.hp2 NA18946.hp2 NA18979.hp2 NA18984.hp1 NA19002.hp2 NA19030.hp1 NA19078.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0003 a0005c0014 a0008c0007 a0003c0003 a0005c0014 a0008c0007	a0003c0003t0004 a0003c0003t0016 a0003c0003t0018 others(6): Show a0003c0003t0004 a0003c0003t0016 a0003c0003t0018 a0003c0003t0020 a0003c0003t0032 a0003c0003t0034 a0003c0003t0035 a0005c0014t0004 a0008c0007t0004	a0003c0003t0004g0066 a0003c0003t0004g0068 a0003c0003t0004g0069 others(43): Show a0003c0003t0004g0066 a0003c0003t0004g0068 a0003c0003t0004g0069 a0003c0003t0004g0072 a0003c0003t0004g0073 a0003c0003t0004g0074 a0003c0003t0004g0075 a0003c0003t0004g0076 a0003c0003t0004g0079 a0003c0003t0004g0080 a0003c0003t0004g0081 a0003c0003t0004g0083 a0003c0003t0004g0084 a0003c0003t0004g0085 a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0004g0088 a0003c0003t0004g0089 a0003c0003t0004g0090 a0003c0003t0004g0091 a0003c0003t0004g0092 a0003c0003t0004g0093 a0003c0003t0004g0094 a0003c0003t0004g0095 a0003c0003t0004g0096 a0003c0003t0004g0097 a0003c0003t0004g0098 a0003c0003t0004g0099 a0003c0003t0004g0102 a0003c0003t0004g0103 a0003c0003t0004g0104 a0003c0003t0004g0105 a0003c0003t0004g0107 a0003c0003t0004g0108 a0003c0003t0004g0110 a0003c0003t0016g0070 a0003c0003t0016g0071 a0003c0003t0018g0082 a0003c0003t0018g0100 a0003c0003t0020g0067 a0003c0003t0020g0101 a0003c0003t0032g0109 a0003c0003t0034g0078 a0003c0003t0035g0077 a0005c0014t0004g0013 a0008c0007t0004g0106	46	390	0.1180	-26	c.149 others(41): Show c.1495+55_1495+80delCATGAGCCTTGGGAGGCCAAGGCAGG		PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	18/27					chr2	TogoVar
POLA1_chrX_24688918_25001986	24806053	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	197	0.0051	-26	c.296 others(45): Show c.2965-3814_2965-3789delTTTTTTTTTTTTTTTTTTTTTTTTTT		POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36				INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD4_chr11_67345772_67358546	67347627	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	-26	c.43 others(37): Show c.4342_*4367delATATATATATATATATATATTTTTTT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding				3144		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347629	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG03927.hp1 others(3): Show HG00673.hp1 HG00673.hp2 HG03927.hp1 NA18957.hp1 NA18977.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	314	0.0191	-26	c.43 others(37): Show c.4340_*4365delATATATATATATATATATATATTTTT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding				3142		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347631	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG01361.hp1 others(12): Show HG00639.hp1 HG01175.hp1 HG01361.hp1 HG01361.hp2 HG01943.hp1 HG02083.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp2 NA18942.hp1 NA18945.hp1 NA18977.hp2 NA18993.hp1 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0009g0010 a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0009g0010	15	314	0.0478	-26	c.43 others(37): Show c.4338_*4363delATATATATATATATATATATATATTT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding				3140		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	314	0.0032	-26	c.43 others(37): Show c.4336_*4361delATATATATATATATATATATATATAT		POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding				3138		chr11	TogoVar
POLG_chr15_89311320_89339824	89316291	AACAAAGG others(19): Show AACAAAGGCTTTGATGAGAAGATAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	398	0.0025	-26	c.43 others(35): Show c.434_*459delCTCTATCTTCTCATCAAAGCCTTTGT		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding				28		chr15	TogoVar
POLR2G_chr11_62756580_62771710	62757073	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02572.hp2 NA19006.hp2 others(3): Show HG00609.hp1 HG02572.hp2 NA19006.hp2 NA19043.hp1 NA19084.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0002g0005 a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0002g0005	6	368	0.0163	-26	c.-45 others(37): Show c.-4575_-4550delATATATATATATATATATATATATAT		POLR2G	ENSG00000168002.12	transcript	ENST00000301788.12	protein_coding				4506		chr11	TogoVar
POLR2L_chr11_834721_847529	839067	AGAGCCCC others(19): Show AGAGCCCCTGGGGGAGAGGAAAAATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	436	0.0023	-26	c.12 others(37): Show c.1279_*1304delCCATTTTTCCTCTCCCCCAGGGGCTC		POLR2L	ENSG00000177700.6	transcript	ENST00000322028.5	protein_coding				653		chr11	TogoVar
POLR3F_chr20_18462390_18489646	18463478	CAAGCCTA others(19): Show CAAGCCTAAAATAAAAGTTGTAAAAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	452	0.0022	-26	c.-40 others(37): Show c.-4028_-4003delAAGCCTAAAATAAAAGTTGTAAAAGA		POLR3F	ENSG00000132664.13	transcript	ENST00000377603.5	protein_coding				3911		chr20	TogoVar

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