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
PDZD2_chr5_31634131_32115932	32036951	G G	GCCCTGGT others(93): Show GCCCTGGTTCCATGCTGCGCAGTGAGACGTGTGCTGAGGAGGACTGGGGG CCCCTGGTTCCATGCTGGGCGGTGAGACGCGTGCTGAGGAGGACTGGGGG C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0116 a0001c0026t0002g0116	1	214	0.0047	100	c.140 others(117): Show c.1408-188_1408-187insCTGGGGGCCCCTGGTTCCATGCTGCGCA GTGAGACGTGTGCTGAGGAGGACTGGGGGCCCCTGGTTCCATGCTGGGCG GTGAGACGCGTGCTGAGGAGGA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCTCTCTCTCTCTCTCTC TCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCTCCCTCTCCCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	14	0.0714	100	c.48 others(111): Show c.4863_*4864insGAGGGAGAGGGAGAGGGAGGGGGAGGGGGGAGGG GGAGGGGGAGGGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	100	c.48 others(111): Show c.4863_*4864insGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	100	c.48 others(111): Show c.4863_*4864insGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00558.hp2 others(60): Show HG00140.hp1 HG00438.hp1 HG00558.hp2 HG00735.hp2 HG01099.hp1 HG01123.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02071.hp2 HG02148.hp2 HG02257.hp1 HG02300.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG03704.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA18982.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19065.hp2 NA19072.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0002g0009 a0001c0002t0001g0005 a0002c0003t0001g0006	63	76	0.8289	100	c.48 others(111): Show c.4863_*4864insGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCTCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	14	0.0714	100	c.48 others(111): Show c.4863_*4864insGAGAGAGAGAGAGGGAGAGGGAGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCTCTCCCTCTCCCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	14	0.0714	100	c.48 others(111): Show c.4863_*4864insGAGGGAGAGGGAGAGGGGAGGGGGAGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	14	0.0714	100	c.48 others(111): Show c.4863_*4864insGAGAGGGAGAGGGAGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	100	c.48 others(111): Show c.4863_*4864insGAGAGAGAGAGAGAGAGACAGAGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(93): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCTCTCTCT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	14	0.0714	100	c.48 others(111): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGGGG GAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGAGAGA GAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PERM1_chr1_970198_987093	977404	T T	TCCCCCCG others(93): Show TCCCCCCGCACCCGGAACCGCCCACCACACCCCCCACCCCGAACCGCCTC CCACTCCCCCCCGCAACCCCGGAACCGCCTCCCACTCCCCCACCCGAACC C	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0081 a0001c0007t0001g0081	1	402	0.0025	100	c.215 others(117): Show c.2150-781_2150-780insGGGTTCGGGTGGGGGAGTGGGAGGCGGT TCCGGGGTTGCGGGGGGGAGTGGGAGGCGGTTCGGGGTGGGGGGTGTGGT GGGCGGTTCCGGGTGCGGGGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	T T	TGTGTTTT others(93): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATGGTCTTGAT A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG02165.hp2 others(1): Show HG00408.hp2 HG00423.hp2 HG02165.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 others(1): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0002g0248	4	321	0.0125	100	c.77- others(115): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210574	A A	AGTCTTGA others(93): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19082.hp2 HG03017.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0306 a0001c0001t0024g0396 a0001c0001t0001g0306 a0001c0001t0024g0396	2	408	0.0049	100	c.77- others(115): Show c.77-3000_77-2999insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210774	A A	AGTCTTGA others(93): Show AGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT GGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGAT G	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	412	0.0024	100	c.77- others(115): Show c.77-2800_77-2799insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTAGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210915	A A	AGCCAGGA others(93): Show AGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCCATGTT GGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGTTTCACCATGTT G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	371	0.0027	100	c.77- others(115): Show c.77-2700_77-2699insGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCGCCATGTTGGCCAGGATGGTCTTGATAGTGTTTTTAATAGACGGGGT TTCACCATGTTGGCCAGGAT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085819	C C	CACCCCCC others(93): Show CACCCCCCTCCCCAGGAGAGTCCTCCACCCCCTCCCCAGCACTGTCCTCC ACCCTGGGCCAAAGCACTGTCCTCCACCCTGGGCCAAAGCATTGTCCTCC G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0329 a0001c0005t0002g0329	1	397	0.0025	100	c.186 others(117): Show c.186+3358_186+3359insACCCCCCTCCCCAGGAGAGTCCTCCACC CCCTCCCCAGCACTGTCCTCCACCCTGGGCCAAAGCACTGTCCTCCACCC TGGGCCAAAGCATTGTCCTCCG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PGAM5_chr12_132705842_132727734	132727606	C C	CGCACTGC others(93): Show CGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGGCGGAGGAGA GGCACTGCTGAACCCTGGCACCGTGGGCACACGCGCCCGGATGGAGGAGA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0139 a0001c0001t0021g0139	1	392	0.0026	100	c.67 others(111): Show c.6778_*6779insGCACTGCTGAACCCTGGCACCGTGGGCACACGCG CCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCGTGGGCACACGCG CCCGGATGGAGGAGAT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4873		chr12	TogoVar
PHACTR3_chr20_59599540_59852711	59821980	G G	GATCCCAC others(93): Show GATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGC A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0151 a0004c0006t0001g0151	1	115	0.0087	100	c.132 others(121): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59821980	G G	GATCCCAC others(93): Show GATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	115	0.0087	100	c.132 others(121): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59821980	G G	GATCCCAC others(93): Show GATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	115	0.0087	100	c.132 others(121): Show c.1329-14506_1329-14505insGATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCAATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59822000	A A	AATCCCAC others(93): Show AATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCC CTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGC G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19065.hp2 NA19084.hp2 NA18939.hp2 NA19065.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0003g0136 a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0003g0136	3	199	0.0151	100	c.132 others(121): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCAATC CCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCAATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59822000	A A	AATCCCAC others(93): Show AATCCCACCCCTTCCCCAGCAATCCCACCCCTTCCCCAGCGATCCCACCC CTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGC G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02615.hp1 others(1): Show HG01255.hp2 HG02109.hp1 HG02615.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0007 a0001c0003t0018	a0001c0001t0001g0097 a0001c0001t0004g0199 a0001c0003t0007g0116 others(1): Show a0001c0001t0001g0097 a0001c0001t0004g0199 a0001c0003t0007g0116 a0001c0003t0018g0065	4	200	0.0200	100	c.132 others(121): Show c.1329-14486_1329-14485insAATCCCACCCCTTCCCCAGCGATC CCACCCCTTCCCCAGCGATCCCACCCCTTCCCCAGCGATCCCACCCCTTC CCCAGCGATCCCACCCCTTCCCCAGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHEX_chrX_22027325_22256310	22224947	A A	AATTATCA others(93): Show AATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT TATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01099.hp1 others(47): Show HG00423.hp2 HG00673.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02293.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03225.hp1 HG03492.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18955.hp1 NA18984.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19068.hp1 NA19077.hp2 NA19083.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0044 a0001c0001t0047 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0061 a0001c0001t0067 a0001c0001t0081 a0001c0001t0088 a0001c0002t0055 a0003c0005t0073	a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0145 others(47): Show a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0216 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0003g0029 a0001c0001t0003g0038 a0001c0001t0003g0045 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0004g0143 a0001c0001t0004g0154 a0001c0001t0004g0191 a0001c0001t0006g0178 a0001c0001t0007g0140 a0001c0001t0007g0213 a0001c0001t0010g0202 a0001c0001t0012g0086 a0001c0001t0012g0112 a0001c0001t0012g0150 a0001c0001t0019g0007 a0001c0001t0019g0065 a0001c0001t0020g0118 a0001c0001t0021g0008 a0001c0001t0029g0015 a0001c0001t0029g0040 a0001c0001t0044g0222 a0001c0001t0047g0167 a0001c0001t0054g0105 a0001c0001t0056g0100 a0001c0001t0058g0066 a0001c0001t0061g0051 a0001c0001t0067g0081 a0001c0001t0081g0018 a0001c0001t0088g0102 a0001c0002t0055g0036 a0003c0005t0073g0123	50	52	0.9615	100	c.190 others(119): Show c.1900-1458_1900-1457insGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGC	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22224947	A A	AATTATCA others(93): Show AATTATCATACAGCGCTGTATGATTTATTATCATACAGTGCTGTATGATT TATTATCATACAGCGCTGTATGATTTATTATCATACAGCGCTGTATGATT T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0012 a0001c0001t0021g0013 a0001c0001t0021g0012 a0001c0001t0021g0013	2	4	0.5000	100	c.190 others(119): Show c.1900-1459_1900-1458insTGCTGTATGATTTATTATCATACAGC GCTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAGC GCTGTATGATTTATTATCATACAG	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22224960	C C	CGCTGTAT others(93): Show CGCTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAG CGCTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAG T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03041.hp1 HG01070.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0086 a0001c0001t0069 a0001c0001t0086	a0001c0001t0069g0072 a0001c0001t0086g0014 a0001c0001t0069g0072 a0001c0001t0086g0014	2	229	0.0087	100	c.190 others(119): Show c.1900-1458_1900-1457insGCTGTATGATTTATTATCATACAGCG CTGTATGATTTATTATCATACAGCGCTGTATGATTTATTATCATACAGTG CTGTATGATTTATTATCATACAGC	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PIBF1_chr13_72777133_73021461	72927996	C C	CATATATA others(93): Show CATATATATATACATATATATACATATATATACATATATATATATATACA TATATATATACATATATATACATATATATACATATATATATATATATACA T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	293	0.0034	100	c.173 others(119): Show c.1731-3160_1731-3159insTACATATATATACATATATATACATA TATATATATATACATATATATATACATATATATACATATATATACATATA TATATATATATACATATATATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72928028	T T	TATATATA others(93): Show TATATATATATACATATATATACATATATATATATATACATATATATACA TATATATATATATACATATATATACATATATATATATATACATATATATA C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	241	0.0041	100	c.173 others(119): Show c.1731-3126_1731-3125insCATATATATACATATATATATATATA CATATATATACATATATATATATATACATATATATACATATATATATATA TACATATATATACATATATATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACATGTATACATATATACATGTAGATACATGTAG ATACATGTGTACATATATACATGTAGATGCATGTAGATACATGTGTACAT A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0020 a0001c0001t0048g0020	1	127	0.0079	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACATGTATACATA TATACATGTAGATACATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACATGTATACATATATACATGTAGATGCATGTAG ATACATGTATACATATATACATGTAGATGCATGTAGATACATGTATACAT A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0017 a0002c0003t0001g0017	1	127	0.0079	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACATGTATACATA TATACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGATG CATGTAGATACATGTATACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACATGTATACATATATACATGTAGATGCATGTAG ATACATGTGTACATATATACATGTAGATGCATGTAGATACATGTGTACAT A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00609.hp1 others(34): Show HG00140.hp2 HG00408.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01361.hp1 HG01433.hp2 HG02056.hp1 HG02071.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA18906.hp2 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18984.hp2 NA19004.hp1 NA19010.hp1 NA19064.hp1 NA19079.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0001c0013 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0045 a0001c0001t0046 a0001c0001t0054 a0001c0002t0005 a0001c0002t0009 a0001c0002t0049 a0001c0005t0001 a0001c0005t0041 a0001c0006t0001 a0001c0006t0006 a0001c0009t0019 a0001c0012t0029 a0001c0013t0002 a0002c0003t0001 a0002c0003t0006 a0002c0004t0001 a0002c0004t0010 a0002c0004t0078	a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0003g0053 others(34): Show a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0003g0053 a0001c0001t0005g0064 a0001c0001t0008g0033 a0001c0001t0008g0067 a0001c0001t0045g0009 a0001c0001t0046g0073 a0001c0001t0054g0263 a0001c0002t0005g0153 a0001c0002t0005g0154 a0001c0002t0005g0156 a0001c0002t0005g0176 a0001c0002t0009g0157 a0001c0002t0009g0201 a0001c0002t0049g0122 a0001c0005t0001g0030 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0107 a0001c0005t0001g0172 a0001c0005t0041g0085 a0001c0006t0001g0150 a0001c0006t0001g0223 a0001c0006t0006g0210 a0001c0009t0019g0022 a0001c0012t0029g0235 a0001c0013t0002g0286 a0001c0013t0002g0287 a0002c0003t0001g0262 a0002c0003t0001g0269 a0002c0003t0006g0023 a0002c0004t0001g0155 a0002c0004t0010g0238 a0002c0004t0010g0240 a0002c0004t0078g0295	37	163	0.2270	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACATGTATACATA TATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACATGTGTACATATATACATGTAGATGCATGTAG ATACATGTGTACATATATACATGTAGATGCATGTAGATACATGTGTACAT A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18967.hp1 NA18960.hp1 NA18967.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0111 a0001c0006t0001g0127 a0001c0005t0001g0111 a0001c0006t0001g0127	2	128	0.0156	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACATGTGTACATA TATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACGTGTATACATATATACATGTAGATGCATGTAG ATACATGTATACATATATACATGTAGATGCATGTAGATACATGTATACAT A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0207 a0001c0002t0020g0207	1	127	0.0079	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACGTGTATACATA TATACATGTAGATGCATGTAGATACATGTATACATATATACATGTAGATG CATGTAGATACATGTATACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262807	G G	GTAGATGC others(93): Show GTAGATGCATGTAGATACGTGTATACATATATACATGTAGATGCATGTAG ATACATGTGTACATATATACATGTAGATGCATGTAGATACATGTGTACAT A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0164 a0001c0006t0001g0165 a0001c0006t0001g0164 a0001c0006t0001g0165	2	128	0.0156	100	c.335 others(119): Show c.335-10581_335-10580insGATGCATGTAGATACGTGTATACATA TATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262899	A A	ATATACAT others(93): Show ATATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGAT GCATGTAGATACATGTGTACATATATACATGTAGATGCATGTAGATACAT G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0100 a0001c0005t0001g0100	1	278	0.0036	100	c.335 others(119): Show c.335-10478_335-10477insGCATGTAGATACATGTGTACATATAT ACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATGCAT GTAGATACATGTATACATGTAGAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R5_chr17_8873916_8970707	8925106	G G	GGATAGAT others(93): Show GGATAGATAGATAGTAGATGGATAGATAGATAGTAGATGAATAGATAGCT AGATAGTAGATGGATAGATGGGTAGATAGATAGACAGAAAGTAGATGGAT A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02723.hp2 others(1): Show HG02280.hp2 HG02486.hp1 HG02723.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0148 a0001c0005t0001g0030 a0001c0005t0001g0135 others(1): Show a0001c0001t0001g0148 a0001c0005t0001g0030 a0001c0005t0001g0135 a0001c0005t0001g0272	4	294	0.0136	100	c.-13 others(119): Show c.-13-13699_-13-13600dupTATCCATCTACTTTCTGTCTATCTAT CTACCCATCTATCCATCTACTATCTAGCTATCTATTCATCTACTATCTAT CTATCCATCTACTATCTATCTATC	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	1/18			chr17	TogoVar
PIP5K1C_chr19_3625183_3705468	3649230	G G	GCCCAGCG others(93): Show GCCCAGCGCGGGAGTTAACTGTCACCCGGCACCATGCCCACACGTCCCCT GCCCAGCGCGGGAGTTAACTGTCACCCGGCACCATGCCCACACGTCCCCT A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	330	0.0030	100	c.112 others(117): Show c.1128-523_1128-522insTAGGGGACGTGTGGGCATGGTGCCGGGT GACAGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCATGGTGCCGGGT GACAGTTAACTCCCGCGCTGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649263	A A	ATGCCCAC others(93): Show ATGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0293 a0001c0002t0003g0293	1	86	0.0116	100	c.112 others(117): Show c.1128-655_1128-556dupCGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCG CTGGGCAGGGGACGTGTGGGCA	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649381	C C	CCCAGCGC others(93): Show CCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACACGTCCCCTG CCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACACGTCCCCTG T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	330	0.0030	100	c.112 others(117): Show c.1128-674_1128-673insACAGGGGACGTGTGGGCACGGTGCCGGG TGACAGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCACGGTGCCGGG TGACAGTTAACTCCCGCGCTGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649417	C C	CCACACGT others(93): Show CCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGC CCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGC T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02965.hp1 others(2): Show HG02451.hp1 HG02486.hp2 HG02965.hp1 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0045 a0001c0001t0010 a0001c0001t0045	a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0059 others(2): Show a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0059 a0001c0001t0010g0060 a0001c0001t0045g0270	5	330	0.0152	100	c.112 others(117): Show c.1128-710_1128-709insAGCACGGTGCCGGGTGACAGTTAACTCC CGCGCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCC CGCGCTGGGCAGGGGACGTGTG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(93): Show CTCGTTCTTTCTTTCTTTCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	77	0.0130	100	c.-33 others(111): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTGCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(93): Show CTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0054 a0001c0004t0003g0054	1	77	0.0130	100	c.-33 others(111): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(93): Show CTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTTTTTCT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0210 a0001c0016t0005g0210	1	77	0.0130	100	c.-33 others(111): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTTTCTTTTTTTCTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCXD1_chrX_276381_308356	280476	G G	GGGGGGCC others(93): Show GGGGGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGT GCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGCGGAG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0059 a0001c0001t0029g0059	1	173	0.0058	100	c.-12 others(111): Show c.-1230_-1229insGGGGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAA GACGTGCAGGCGGAGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		904		chrX	TogoVar
PLEKHG4B_chr5_87168_194966	194146	A A	ACTGTCCT others(93): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(69): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18954.hp1 NA18954.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18984.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp1 NA19068.hp1 NA19088.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0006 a0008 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0023 a0024 a0029 a0030 a0032 a0037 a0039	a0001c0001 a0001c0015 a0001c0052 others(32): Show a0001c0001 a0001c0015 a0001c0052 a0002c0003 a0002c0005 a0002c0039 a0002c0057 a0003c0009 a0003c0056 a0004c0006 a0004c0041 a0004c0043 a0004c0054 a0006c0068 a0008c0024 a0008c0025 a0008c0079 a0011c0023 a0013c0027 a0013c0065 a0013c0066 a0014c0013 a0015c0019 a0016c0022 a0017c0018 a0018c0076 a0019c0030 a0020c0063 a0023c0064 a0024c0050 a0029c0046 a0030c0026 a0032c0075 a0037c0062 a0039c0047	a0001c0001t0025 a0001c0015t0034 a0001c0015t0064 others(50): Show a0001c0001t0025 a0001c0015t0034 a0001c0015t0064 a0001c0052t0032 a0002c0003t0001 a0002c0003t0008 a0002c0003t0013 a0002c0003t0033 a0002c0003t0099 a0002c0003t0100 a0002c0003t0101 a0002c0003t0102 a0002c0005t0001 a0002c0005t0013 a0002c0005t0063 a0002c0005t0096 a0002c0005t0098 a0002c0039t0001 a0002c0057t0001 a0003c0009t0007 a0003c0009t0032 a0003c0056t0007 a0004c0006t0001 a0004c0006t0059 a0004c0006t0093 a0004c0006t0095 a0004c0041t0001 a0004c0043t0094 a0004c0054t0001 a0006c0068t0047 a0008c0024t0022 a0008c0025t0062 a0008c0079t0061 a0011c0023t0053 a0011c0023t0054 a0013c0027t0052 a0013c0065t0037 a0013c0066t0051 a0014c0013t0001 a0015c0019t0012 a0015c0019t0021 a0016c0022t0008 a0017c0018t0001 a0018c0076t0060 a0019c0030t0038 a0020c0063t0021 a0023c0064t0012 a0024c0050t0001 a0029c0046t0040 a0030c0026t0056 a0032c0075t0057 a0037c0062t0012 a0039c0047t0033	a0001c0001t0025g0053 a0001c0001t0025g0054 a0001c0015t0034g0121 others(69): Show a0001c0001t0025g0053 a0001c0001t0025g0054 a0001c0015t0034g0121 a0001c0015t0064g0153 a0001c0052t0032g0120 a0002c0003t0001g0097 a0002c0003t0001g0099 a0002c0003t0001g0131 a0002c0003t0008g0208 a0002c0003t0008g0209 a0002c0003t0013g0094 a0002c0003t0033g0018 a0002c0003t0099g0129 a0002c0003t0100g0029 a0002c0003t0101g0127 a0002c0003t0102g0072 a0002c0005t0001g0032 a0002c0005t0001g0066 a0002c0005t0001g0095 a0002c0005t0001g0166 a0002c0005t0013g0098 a0002c0005t0013g0152 a0002c0005t0063g0081 a0002c0005t0096g0123 a0002c0005t0098g0044 a0002c0039t0001g0031 a0002c0057t0001g0027 a0003c0009t0007g0050 a0003c0009t0007g0087 a0003c0009t0007g0091 a0003c0009t0007g0092 a0003c0009t0032g0014 a0003c0056t0007g0080 a0004c0006t0001g0048 a0004c0006t0001g0052 a0004c0006t0001g0065 a0004c0006t0001g0118 a0004c0006t0059g0192 a0004c0006t0093g0049 a0004c0006t0095g0004 a0004c0041t0001g0077 a0004c0043t0094g0100 a0004c0054t0001g0138 a0006c0068t0047g0194 a0008c0024t0022g0174 a0008c0024t0022g0175 a0008c0025t0062g0173 a0008c0079t0061g0172 a0011c0023t0053g0183 a0011c0023t0054g0186 a0013c0027t0052g0170 a0013c0065t0037g0165 a0013c0066t0051g0169 a0014c0013t0001g0017 a0014c0013t0001g0020 a0014c0013t0001g0117 a0015c0019t0012g0163 a0015c0019t0021g0190 a0016c0022t0008g0195 a0016c0022t0008g0196 a0017c0018t0001g0005 a0017c0018t0001g0006 a0018c0076t0060g0191 a0019c0030t0038g0139 a0020c0063t0021g0188 a0023c0064t0012g0189 a0024c0050t0001g0140 a0029c0046t0040g0179 a0030c0026t0056g0168 a0032c0075t0057g0177 a0037c0062t0012g0164 a0039c0047t0033g0068	72	181	0.3978	100	c.11 others(113): Show c.11823_*11824insCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATTCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCT GCTTTCTGAGCTGACATT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding		4181		chr5	TogoVar
PLEKHN1_chr1_961482_980865	977404	T T	TCCCCCCG others(93): Show TCCCCCCGCACCCGGAACCGCCCACCACACCCCCCACCCCGAACCGCCTC CCACTCCCCCCCGCAACCCCGGAACCGCCTCCCACTCCCCCACCCGAACC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0001 a0001c0043t0001g0001	1	417	0.0024	100	c.28 others(111): Show c.2829_*2830insCCCCCCGCACCCGGAACCGCCCACCACACCCCCC ACCCCGAACCGCCTCCCACTCCCCCCCGCAACCCCGGAACCGCCTCCCAC TCCCCCACCCGAACCC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1540		chr1	TogoVar
PLIN1_chr15_89659367_89684367	89663911	G G	GCCAGGGC others(93): Show GCCAGGGCCACAGAGTCAGCTCCAGGGCCACAGAGTCAGCGCCAGGGCCA CAGAGTCAGCTCCAGGGCCACAGAGTCAGTGCCAGGGCCACAGAGTCAGT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02895.hp1 HG02896.hp2 HG02109.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309	3	424	0.0071	100	c.16 others(111): Show c.1671_*1672insAACTGACTCTGTGGCCCTGGCACTGACTCTGTGG CCCTGGAGCTGACTCTGTGGCCCTGGCGCTGACTCTGTGGCCCTGGAGCT GACTCTGTGGCCCTGG	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		455		chr15	TogoVar
PLVAP_chr19_17346455_17382342	17349175	T T	TCTTTCTT others(93): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	430	0.0023	100	c.31 others(111): Show c.3186_*3187insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2279		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349191	T T	TCTTTCTT others(93): Show TCTTTCTTTCTTTCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0404 a0001c0001t0001g0404	1	419	0.0024	100	c.31 others(111): Show c.3170_*3171insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GAAGAAAGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2263		chr19	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(93): Show GCCACACCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCC CCCCCACCCCACCCACACCCCTCCCCGCCCCCCCACACCCCTCCCCGCCC C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp1 HG02970.hp1 others(2): Show HG02647.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0001 a0001c0001t0001 a0002c0010t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 others(2): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0002c0010t0001g0183	5	139	0.0360	100	c.106 others(117): Show c.1060+125_1060+126insACCCGCCACACCCCTCCCCTCCCCCCCA CCCCCCCCACCCCACCCACACCCCTCCCCGCCCCCCCACACCCCTCCCCG CCCCCCACACCCCTCCCCACCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLD1_chr19_50379347_50423014	50401357	G G	GTGTATAT others(93): Show GTGTATATGTGTATATATATATGTATATGTGTATATATATATATATATGT ATATGTGTATATATATATATATATGTATATGTGTGTGTATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG02451.hp2 HG02896.hp1 HG02897.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0012 a0001c0009t0001g0013 a0001c0009t0001g0015 others(2): Show a0001c0009t0001g0012 a0001c0009t0001g0013 a0001c0009t0001g0015 a0001c0009t0001g0016 a0001c0009t0001g0017	5	325	0.0154	100	c.317 others(115): Show c.317-400_317-399insGTATATGTGTATATATATATATATATGTAT ATGTGTATATATATATATATATGTATATGTGTGTGTATATATATATATAT GTATATGTGTATATATATAT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar

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