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
NXPH1_chr7_8428609_8757961	8495322	A A	AGAGTAAT others(310): Show AGAGTAATCAGCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCAACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01069.hp1 others(8): Show HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01515.hp1 HG02602.hp1 HG02735.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0088 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0020g0117	11	208	0.0529	317	c.54+ others(334): Show c.54+59569_54+59570insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTCCTGCCTCAGCCTCCC CAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGAGTAATCAGCTTT		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(310): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	296	0.0034	317	c.-20 others(326): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					173		chr13	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(310): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGAGAGGGAG AAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAA GGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0206 a0001c0001t0030g0206	1	328	0.0031	317	c.-12 others(334): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGAGAG GGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGG AGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(310): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGGAGAGGGAGAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAA GGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	328	0.0031	317	c.-12 others(334): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGGAGAGGGAGAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGG AGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR2M3_chr1_248192265_248217925	248195355	G G	GAGTTTTA others(310): Show GAGTTTTATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGGGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0090 a0006c0008t0090	a0006c0008t0090g0026 a0006c0008t0090g0026	1	410	0.0024	317	c.-19 others(328): Show c.-1965_-1964insAGTTTTATTTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGGGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGA		OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding					1909		chr1	TogoVar
OR7A17_chr19_14873203_14891132	14887787	C C	CAAAAGAA others(310): Show CAAAAGAAGACATTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTG AGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0024 a0004c0008t0024	a0004c0008t0024g0064 a0004c0008t0024g0064	1	444	0.0023	317	c.-21 others(328): Show c.-2142_-2141insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCAACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAGGAATGTCTTCTTTT		OR7A17	ENSG00000185385.5	transcript	ENST00000641113.1	protein_coding					1656		chr19	TogoVar
OS9_chr12_57689132_57726557	57689476	C C	CAAAAAAC others(310): Show CAAAAAACATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02818.hp2 others(2): Show HG01261.hp1 HG02109.hp1 HG02818.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0095 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0156	5	352	0.0142	317	c.-46 others(328): Show c.-4686_-4685insAAAAAACATTATAGTTTGGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA		OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding					4655		chr12	TogoVar
OS9_chr12_57689132_57726557	57689483	C C	CATTATAG others(310): Show CATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	317	c.-46 others(328): Show c.-4679_-4678insATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA		OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding					4648		chr12	TogoVar
OVCH2_chr11_7684437_7711477	7695672	T T	TAAGAATG others(310): Show TAAGAATGGATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02055.hp2 HG03540.hp2 NA21309.hp1 HG02055.hp2 HG03540.hp2 NA21309.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0002 a0016c0018t0004 a0016c0018t0002 a0016c0018t0004	a0016c0018t0002g0252 a0016c0018t0004g0043 a0016c0018t0002g0252 a0016c0018t0004g0043	3	476	0.0063	317	c.117 others(326): Show c.1179_1180insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCATCCATTCTT	p.Ile others(5): Show p.Ile394fs	OVCH2	ENSG00000183378.13	transcript	ENST00000533663.6	protein_coding	11/16	1262/1978	1179/1698	393/565			chr11	TogoVar
PACRG_chr6_162722974_163320500	163046354	T T	TAATCACT others(310): Show TAATCACTTGAAATCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	130	0.0077	317	c.292 others(336): Show c.292-15780_292-15779insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAATCACTTGAAATCTT		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66240777	T T	TTAATCTT others(310): Show TTAATCTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03540.hp1 NA18906.hp1 HG02809.hp2 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191	3	322	0.0093	317	c.243 others(334): Show c.2430-636_2430-635insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTAATCTTGTTTTTT		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN3_chr11_47172522_47191434	47181261	C C	CAAAAAAA others(310): Show CAAAAAAAAAGAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG03041.hp1 others(2): Show HG02622.hp2 HG02723.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	5	364	0.0137	317	c.212 others(332): Show c.212-572_212-571insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTTTTTCTTTTTTTTT		PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding	4/10						chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(310): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGG GGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGG AGGGGGGAGGGGAGGGGGAGGGAGGGGGGGGGAGGGGGAGGGAGGGGGGA GGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAG GGGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGG AAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	302	0.0033	317	c.155 others(334): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCT CCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PALLD_chr4_168492052_168933441	168793366	C C	CATATATA others(310): Show CATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCA TATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATA TATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATA TATACATATATATGTGTGCATATATATACATATATATGTGTGCATATATA TACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATA CATATATATGTGTGCATATATATACATATATATGTGATATATATCGCATA TATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0019 a0002c0012t0019	a0002c0012t0019g0141 a0002c0012t0019g0141	1	156	0.0064	317	c.196 others(338): Show c.1964+81451_1964+81452insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGATATATATCGCATATATATACATATATATGTGATATATAT		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGGTT others(310): Show AGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGA GAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTC TGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGT TCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAG GAGGGGATTGTGTGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	367	0.0027	317	c.4-1 others(330): Show c.4-1375_4-1374insCCCTCACACAATCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCTCACACAATCCCCT CCTCTCACGGAACCCCCTCCTCTCACGGAACCCCC		PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4						chr16	TogoVar
PARD3_chr10_34104561_34820296	34282095	T T	TAAAATAC others(310): Show TAAAATACAAGTGCCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02886.hp2 HG02615.hp2 HG02809.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0017 a0001c0002t0003 a0001c0001t0001 a0001c0001t0017 a0001c0002t0003	a0001c0001t0001g0073 a0001c0001t0017g0040 a0001c0002t0003g0056 a0001c0001t0001g0073 a0001c0001t0017g0040 a0001c0002t0003g0056	3	100	0.0300	317	c.317 others(336): Show c.3176+2039_3176+2040insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTT GTATTTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCTTGAGCCACCGCGCCCGGCCTGGCACTTGTATTTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	21/24						chr10	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(310): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGT GATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATG ATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03139.hp2 HG02818.hp1 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0187 a0004c0004t0001g0188 a0004c0004t0001g0187 a0004c0004t0001g0188	2	380	0.0053	317	c.255 others(336): Show c.2556+1616_2556+1617insTCACCACCACCTTCACCACTCACTGT CGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACC ATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCA CCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCAC CACTCACTGTCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGT CACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCA		PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10						chr8	TogoVar
PARP10_chr8_143972158_143991460	143981389	A A	ATGGTGAT others(310): Show ATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	380	0.0026	317	c.255 others(336): Show c.2556+1542_2556+1543insCCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCT TCACCACTCACTGTCGTCACCACCATCACCACCACCTTCACCACTCACTG TCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCAC CATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCA		PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10						chr8	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(310): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19001.hp2 NA19010.hp2 HG00609.hp1 NA19001.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0248 a0001c0001t0003g0257 a0001c0001t0003g0137 a0001c0001t0003g0248 a0001c0001t0003g0257	3	366	0.0082	317	c.494 others(334): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTA		PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
PATJ_chr1_61737480_62168915	62108326	T T	TAAAATAT others(310): Show TAAAATATAACATTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0006 a0006	a0006c0068 a0006c0068	a0006c0068t0011 a0006c0068t0011	a0006c0068t0011g0097 a0006c0068t0011g0097	1	158	0.0063	317	c.437 others(332): Show c.4378-95_4378-94insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAATATAACATTATT		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(310): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCG TGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGT CAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18998.hp1 HG01361.hp2 NA18998.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0205 a0003c0005t0001g0177 a0001c0001t0001g0205 a0003c0005t0001g0177	2	292	0.0069	317	c.-16 others(336): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CACTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCC ACATGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACG GTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17						chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(310): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCG TGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGT CAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01106.hp2 others(3): Show HG00280.hp2 HG00738.hp1 HG01106.hp2 HG01515.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0132 others(3): Show a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0160 a0001c0001t0001g0289	6	292	0.0206	317	c.-16 others(336): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCC ACATGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACG GTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17						chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(310): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCG TGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGT CAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp1 HG02129.hp2 others(6): Show HG00558.hp2 HG02040.hp1 HG02129.hp2 HG02683.hp2 HG03654.hp1 NA18957.hp2 NA18982.hp1 NA18984.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0148 others(6): Show a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0208 a0004c0007t0001g0137	9	292	0.0308	317	c.-16 others(336): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCC ACATGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACG GTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17						chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(310): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCATCGCCG TGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGT CAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG00741.hp2 others(38): Show HG00438.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01258.hp1 HG01261.hp2 HG01934.hp2 HG02015.hp2 HG02027.hp1 HG02083.hp2 HG02132.hp1 HG02523.hp1 HG02647.hp1 HG03017.hp2 HG03209.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18747.hp1 NA18943.hp1 NA18962.hp2 NA18983.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19064.hp1 NA19080.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0002c0006t0001	a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 others(38): Show a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0013g0180 a0001c0001t0013g0182 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0152 a0002c0006t0001g0174	41	292	0.1404	317	c.-16 others(336): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCC ACATGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACG GTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17						chr21	TogoVar
PCLO_chr7_82749012_83167884	82801192	A A	AATATACG others(310): Show AATATACGTTATATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGATGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02735.hp2 HG02165.hp2 HG02735.hp2	a0005 a0071 a0005 a0071	a0005c0005 a0071c0100 a0005c0005 a0071c0100	a0005c0005t0001 a0071c0100t0001 a0005c0005t0001 a0071c0100t0001	a0005c0005t0001g0174 a0071c0100t0001g0062 a0005c0005t0001g0174 a0071c0100t0001g0062	2	188	0.0106	317	c.150 others(336): Show c.15007+325_15007+326insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCATCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAATATAACGTATAT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	22/24						chr7	TogoVar
PCNX2_chr1_232978435_233300725	233206359	C C	CAAAAAGA others(310): Show CAAAAAGAAGATGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0135 a0003c0003t0002g0135	1	146	0.0069	317	c.286 others(336): Show c.2863+2158_2863+2159insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGCCATCTTCTTTTT		PCNX2	ENSG00000135749.20	transcript	ENST00000258229.14	protein_coding	13/33						chr1	TogoVar
PDE4B_chr1_65787895_66379574	65934299	T T	TAAAATTA others(310): Show TAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	118	0.0085	317	c.281 others(336): Show c.281+15472_281+15473insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAG		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE8B_chr5_77205680_77433256	77420370	T T	TAAAACCT others(310): Show TAAAACCTACTCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02027.hp1 HG02056.hp1 others(6): Show HG00621.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 NA19000.hp1 NA19009.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0025 a0001c0001t0030 a0001c0001t0006 a0001c0001t0025 a0001c0001t0030	a0001c0001t0006g0092 a0001c0001t0006g0113 a0001c0001t0006g0117 others(6): Show a0001c0001t0006g0092 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0006g0142 a0001c0001t0006g0187 a0001c0001t0006g0260 a0001c0001t0006g0278 a0001c0001t0025g0213 a0001c0001t0030g0271	9	314	0.0287	317	c.225 others(334): Show c.2250+497_2250+498insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAACCTACTCATG		PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	19/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZRN4_chr12_41183320_41579745	41429793	T T	TCTTATTT others(310): Show TCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	206	0.0049	317	c.844 others(336): Show c.844-76653_844-76652insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTATTTTTT		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PERM1_chr1_970198_987093	977348	C C	CCAACCCC others(310): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCG CTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGG GAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCC CCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAAC CGCCTCCCGCTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0232 a0002c0005t0005g0232	1	408	0.0025	317	c.215 others(334): Show c.2150-725_2150-724insCGGGGGGAGCGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGCGGGAGGCGG TTCCCGGGGTTGCGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGG GAGCGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGCGGGAGGCGGTTCCC GGGGTTGGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28419029	T T	TCTACTTT others(310): Show TCTACTTTTATGATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGG CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03486.hp2 HG02055.hp1 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0004 a0001c0006t0024 a0001c0003t0004 a0001c0006t0024	a0001c0003t0004g0119 a0001c0006t0024g0118 a0001c0003t0004g0119 a0001c0006t0024g0118	2	228	0.0088	317	c.16+ others(334): Show c.16+11585_16+11586insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCTACTTTTATGATTTTTTT		PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PHF2_chr9_93571584_93684587	93609090	T T	TTTAGTGG others(310): Show TTTAGTGGTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02027.hp1 NA18939.hp2 HG01168.hp2 HG02027.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0120 a0001c0001t0002g0133 a0001c0001t0002g0103 a0001c0001t0002g0120 a0001c0001t0002g0133	3	350	0.0086	317	c.99- others(334): Show c.99-20866_99-20865insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTTAGTGGTTGTTTT		PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PHLPP1_chr18_62710541_62985433	62783026	A A	ATGAGAAT others(310): Show ATGAGAATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	192	0.0052	317	c.157 others(338): Show c.1577-46998_1577-46997insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAGAATCTTT		PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
PIAS4_chr19_4002736_4044386	4011956	T T	TGTGTGGG others(310): Show TGTGTGGGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0216 a0001c0003t0015g0216	1	334	0.0030	317	c.28- others(330): Show c.28-952_28-951insCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTTTGGTGTGGAGGTGTGGGGTGTGGAG		PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGK_chr1_77083989_77224430	77168629	T T	TAAAATTG others(310): Show TAAAATTGCTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01978.hp2 HG02109.hp1 others(4): Show HG00741.hp2 HG01978.hp2 HG02109.hp1 HG02148.hp2 HG04184.hp2 HG04204.hp2 NA19083.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0004 a0003c0006t0004 a0002c0002t0004 a0003c0006t0004	a0002c0002t0004g0290 a0002c0002t0004g0298 a0002c0002t0004g0312 others(4): Show a0002c0002t0004g0290 a0002c0002t0004g0298 a0002c0002t0004g0312 a0002c0002t0004g0319 a0002c0002t0004g0320 a0002c0002t0004g0322 a0003c0006t0004g0012	7	366	0.0191	317	c.375 others(332): Show c.375+630_375+631insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTGAAGCAATTTT		PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	4/10						chr1	TogoVar
PIGL_chr17_16212210_16331411	16330606	C C	CAAGACCA others(310): Show CAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	246	0.0041	317	c.47 others(328): Show c.4708_*4709insAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA		PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding					4196		chr17	TogoVar
PIK3C2G_chr12_18256518_18653416	18529123	A A	AGATGACT others(310): Show AGATGACTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02630.hp1 others(5): Show HG01884.hp1 HG02109.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG03453.hp2 HG03540.hp1	a0005 a0006 a0008 a0005 a0006 a0008	a0005c0015 a0006c0011 a0006c0050 others(1): Show a0005c0015 a0006c0011 a0006c0050 a0008c0051	a0005c0015t0001 a0006c0011t0001 a0006c0050t0001 others(1): Show a0005c0015t0001 a0006c0011t0001 a0006c0050t0001 a0008c0051t0001	a0005c0015t0001g0010 a0005c0015t0001g0069 a0005c0015t0001g0150 others(5): Show a0005c0015t0001g0010 a0005c0015t0001g0069 a0005c0015t0001g0150 a0006c0011t0001g0043 a0006c0011t0001g0047 a0006c0011t0001g0048 a0006c0050t0001g0046 a0008c0051t0001g0049	8	176	0.0455	317	c.332 others(336): Show c.3324-9018_3324-9017insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGATGACTGTTTCTTT		PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	24/32					INFO_REALIGN_3_PRIME	chr12	TogoVar
PIR_chrX_15379799_15498333	15401360	G G	GTAAACCT others(310): Show GTAAACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	272	0.0037	317	c.611 others(334): Show c.611-3830_611-3829insTCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGTTTA		PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9						chrX	TogoVar
PITPNC1_chr17_67372281_67702256	67700926	G G	GTTGAAAA others(310): Show GTTGAAAATCAGTAACTTACTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 NA19062.hp1 HG04184.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0052 a0001c0001t0051 a0001c0001t0052	a0001c0001t0051g0138 a0001c0001t0052g0147 a0001c0001t0051g0138 a0001c0001t0052g0147	2	218	0.0092	317	c.80 others(328): Show c.8038_*8039insTTGAAAATCAGTAACTTACTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCT		PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding					3671		chr17	TogoVar
PKN2_chr1_88679273_88841255	88753699	T T	TACACACT others(310): Show TACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0037 a0001c0005t0009g0037	1	330	0.0030	317	c.350 others(334): Show c.350-6513_350-6512insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGACACACTTTT		PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	397864	G G	GTACCCCC others(310): Show GTACCCCCACATATACCTCATCACCTCCATACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACAC ACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCT CCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGC GTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCAC ACACCTGTGTCACCTCCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0099	1	216	0.0046	317	c.106 others(334): Show c.1068+229_1068+230insATACCCCCGCACACACCTCCGTCACCTC CGTACCCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTAC CCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACC TCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT GTGTCACCTCCCTACCCCCACATATACCTCATCACCTCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401952	C C	CCGCTCAC others(310): Show CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCA CCCCCAGCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0007 a0007	a0007c0034 a0007c0034	a0007c0034t0001 a0007c0034t0001	a0007c0034t0001g0163 a0007c0034t0001g0163	1	216	0.0046	317	c.173 others(336): Show c.1738-1125_1738-1124insGCTCACACCCGACCCGCTCACCCCCG GCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACAC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHA6_chr1_204213853_204364929	204269327	C C	CAGAAACC others(310): Show CAGAAACCTCATCTATTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCG AGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTC AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0111 a0001c0001t0025g0111	1	270	0.0037	317	c.103 others(334): Show c.103-1016_103-1015insTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGACAATAGATGAGGTTTCT		PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	3/22						chr1	TogoVar
PLEKHN1_chr1_961482_980865	977348	C C	CCAACCCC others(310): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCC TCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCG CTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGG GAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCC CCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAAC CGCCTCCCGCTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0010 a0001c0053t0010	a0001c0053t0010g0035 a0001c0053t0010g0035	1	422	0.0024	317	c.27 others(328): Show c.2773_*2774insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCA ACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCC CGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCC GGGAACCGCCTCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTC CCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAA CCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCC ACCAACCCCGGGAACCGCCTCCCGCTCCCCCCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1484		chr1	TogoVar
POLR2M_chr15_57701714_57722557	57702490	A A	ACAGGAAA others(310): Show ACAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0101 a0002c0003t0013g0101	1	404	0.0025	317	c.-43 others(328): Show c.-4353_-4352insCAGGAAATTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG		POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding					4223		chr15	TogoVar
POTEG_chr14_19397486_19439341	19426183	T T	TAAAACTC others(310): Show TAAAACTCACACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0016 a0016	a0016c0046 a0016c0046	a0016c0046t0010 a0016c0046t0010	a0016c0046t0010g0109 a0016c0046t0010g0109	1	111	0.0090	317	c.811 others(332): Show c.811-472_811-471insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATGGTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCAGTGTGAGTTTT		POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding	3/10						chr14	TogoVar
PPCS_chr1_42451543_42466236	42452987	C C	CAGAAAAA others(310): Show CAGAAAAAAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCCTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG06807.hp1 HG06807.hp2 HG02622.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0043 a0001c0001t0004g0026 a0001c0001t0004g0043	3	396	0.0076	317	c.-35 others(328): Show c.-3579_-3578insAGAAAAAAACTGAGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA		PPCS	ENSG00000127125.9	transcript	ENST00000372561.4	protein_coding					3555		chr1	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(310): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCAGTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19068.hp2 NA19082.hp1 NA18952.hp1 NA19068.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0104 a0001c0001t0001g0176 a0001c0001t0001g0190	3	270	0.0111	317	c.200 others(334): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16						chr4	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(310): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCAGTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00741.hp2 others(18): Show HG00323.hp1 HG00438.hp1 HG00741.hp2 HG01099.hp2 HG01168.hp2 HG01256.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG02083.hp1 HG02109.hp1 HG03017.hp1 HG03540.hp1 HG03710.hp1 HG04199.hp1 NA18939.hp1 NA18939.hp2 NA18960.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0007 a0007c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0007c0009t0001 a0007c0009t0002	a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0061 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0007g0157 a0007c0009t0001g0214 a0007c0009t0002g0215	21	270	0.0778	317	c.200 others(334): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16						chr4	TogoVar
PPP1R21_chr2_48435766_48520386	48512529	G G	GAAGAAAC others(310): Show GAAGAAACCATGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGC CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0152 a0001c0003t0034g0152	1	372	0.0027	317	c.231 others(336): Show c.2313+1074_2313+1075insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAACCATGGC		PPP1R21	ENSG00000162869.16	transcript	ENST00000294952.13	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr2	TogoVar

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