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
NLRP9_chr19_55703438_55743402	55713636	T T	TCTCCCCT others(167): Show TCTCCCCTCCCTCCCCACCTCTCCCTCTCCCCTCCCCACCTCTCCCCTCT CCCTCCCCACCTCTCCCCTCCCTCCCCACCTCTCCCCTCTCCCTCCCCAC CTCTCCCCTCCCTCCCCACCTCTCCCTCTCCCTCCCCACCTCCCCTCTCC CTCCCCACCTCCCCTCTCCTCCCCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	2	0.5000	174	c.250 others(193): Show c.2502-1047_2502-1046insTGGGGAGGAGAGGGGAGGTGGGGAGG GAGAGGGGAGGTGGGGAGGGAGAGGGAGAGGTGGGGAGGGAGGGGAGAGG TGGGGAGGGAGAGGGGAGAGGTGGGGAGGGAGGGGAGAGGTGGGGAGGGA GAGGGGAGAGGTGGGGAGGGGAGAGGGAGAGGTGGGGAGGGAGGGGAG	NLRP9	ENSG00000185792.10	transcript	ENST00000332836.7	protein_coding	6/8			chr19	TogoVar
NME8_chr7_37843597_37905397	37848174	A A	AAGAAGAA others(167): Show AAGAAGAAAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAAAGAAGA AGAAGAAAAGAAGAAGAAGAAGAAGGAAGAAGAGGAAGAGGAAGAGGAAG AAGAAGAAGAAGAAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAAGA AGAAAAGAAGAGGAAGAGGAAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02622.hp1 others(3): Show HG02258.hp2 HG02559.hp1 HG02622.hp1 HG02818.hp2 HG02896.hp1 NA18522.hp2	a0003 a0009 a0014 a0003 a0009 a0014	a0003c0003 a0003c0010 a0009c0022 others(1): Show a0003c0003 a0003c0010 a0009c0022 a0014c0033	a0003c0003t0002 a0003c0003t0008 a0003c0010t0002 others(2): Show a0003c0003t0002 a0003c0003t0008 a0003c0010t0002 a0009c0022t0002 a0014c0033t0002	a0003c0003t0002g0322 a0003c0003t0008g0320 a0003c0010t0002g0317 others(3): Show a0003c0003t0002g0322 a0003c0003t0008g0320 a0003c0010t0002g0317 a0003c0010t0002g0319 a0009c0022t0002g0274 a0014c0033t0002g0318	6	388	0.0155	174	c.-79 others(183): Show c.-795_-794insAGAAGAAAAGAAGAGGAAGAGGAAGAAGAAGAAGAA GAAGAAAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGGAAGAAGAGGAA GAGGAAGAGGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAGGAAGAGG AAGAGGAAGAAGAAGAAAAGAAGAGGAAGAGGAAGAGG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		422		chr7	TogoVar
NMU_chr4_55590231_55641298	55604017	G G	GTATATAT others(167): Show GTATATATACGTATATATACACGTGTATATATACGTATATATACACGTGT ATATATACACATATATATATATGTATATATACACGTGTATATATACACAT ATATATGTGTATATATACACGTGTATATATACACATATATATATGTATAT ATACACGTGTATATATACACACGTA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0270 a0001c0002t0001g0270	1	412	0.0024	174	c.435 others(191): Show c.435+1257_435+1258insTACGTGTGTATATATACACGTGTATATA TACATATATATATGTGTATATATACACGTGTATATATACACATATATATG TGTATATATACACGTGTATATATACATATATATATATGTGTATATATACA CGTGTATATATACGTATATATACACGTGTATATATACGTATATATA	NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding	7/9			chr4	TogoVar
NOC4L_chr12_132139457_132157468	132149136	C C	CACACCAC others(167): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	294	0.0034	174	c.901 others(189): Show c.901+241_901+242insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACAACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149358	C C	CCACACCC others(167): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	294	0.0034	174	c.901 others(189): Show c.901+463_901+464insCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149358	C C	CCACACCC others(167): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCCCTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	294	0.0034	174	c.901 others(189): Show c.901+463_901+464insCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC CCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150453	C C	CCACACCC others(167): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	294	0.0034	174	c.902 others(189): Show c.902-528_902-527insCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NPSR1_chr7_34653218_34854978	34792703	A A	ATATATAT others(167): Show ATATATATATTTATATATATATGTATATATATATTTTTATATATATGTAT ATATATATTTTTATATATATATGTATATATATATTTTTATATATATATGT ATATATATATTTTTATATATATGTATATATATATTTTTTTATATATATGT ATATATATATTTTTTTATATATATG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG04184.hp2 HG03490.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0238 a0001c0002t0007g0239 a0001c0002t0003g0238 a0001c0002t0007g0239	2	260	0.0077	174	c.384 others(193): Show c.384+14147_384+14148insTTATATATATATGTATATATATATTT TTATATATATGTATATATATATTTTTATATATATATGTATATATATATTT TTATATATATATGTATATATATATTTTTATATATATGTATATATATATTT TTTTATATATATGTATATATATATTTTTTTATATATATGTATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NRIP3_chr11_8975576_9009001	8978824	G G	GCGCCTCT others(167): Show GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGCGGGGGGCGGCC AGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCG GCCGCCCCGTCCGGGAGGTGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03540.hp1 HG02630.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0072 a0001c0001t0019g0073 a0001c0001t0019g0072 a0001c0001t0019g0073	2	406	0.0049	174	c.47 others(185): Show c.4720_*4721insTCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGCCCC CCGCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		1751		chr11	TogoVar
NRSN1_chr6_24121215_24152530	24150873	A A	AAGAAAGA others(167): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	406	0.0025	174	c.49 others(185): Show c.4927_*4928insAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3344		chr6	TogoVar
ODF3L2_chr19_458361_479983	459325	C C	CCAGCGTA others(167): Show CCAGCGTAGGGGGAAGGACCCCTCTCAACTCAGTGTAGGGGGAAGGACCC CACTGAACACAGCGTAAGGGGAAGGACCCCACTGAACCCAGCGTAGGGGG AAGGACCCCACTGAACCCAGCGTAGGGGGAAGGACCCCACTGAACCCAGA GTAGGGGGAAGGACCCCACTGAACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00735.hp1 others(13): Show HG00280.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01167.hp2 HG01168.hp1 HG01261.hp1 HG01943.hp2 HG02615.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG06807.hp2 NA18906.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0003 a0002c0013t0003 a0002c0002t0003 a0002c0013t0003	a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0032 others(6): Show a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0032 a0002c0002t0003g0086 a0002c0002t0003g0089 a0002c0002t0003g0094 a0002c0002t0003g0127 a0002c0013t0003g0130 a0002c0013t0003g0131	16	324	0.0494	174	c.45 others(185): Show c.4518_*4519insAGTTCAGTGGGGTCCTTCCCCCTACTCTGGGTTC AGTGGGGTCCTTCCCCCTACGCTGGGTTCAGTGGGGTCCTTCCCCCTACG CTGGGTTCAGTGGGGTCCTTCCCCTTACGCTGTGTTCAGTGGGGTCCTTC CCCCTACACTGAGTTGAGAGGGGTCCTTCCCCCTACGCTG	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4035		chr19	TogoVar
ODF3L2_chr19_458361_479983	459325	C C	CCAGCGTA others(167): Show CCAGCGTAGGGGGAAGGACCCCTCTCAACTCAGTGTAGGGGGAAGGACCC CACTGAACACAGCGTAAGGGGAAGGACCCCACTGAACCCAGCGTAGGGGG AAGGACCCCACTGAACCCAGCGTAGGGGGAAGGACCCCACTGAACCCAGC GTAGGGGGAAGGACCCCACTGAACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0087 a0004c0006t0003g0087	1	324	0.0031	174	c.45 others(185): Show c.4518_*4519insAGTTCAGTGGGGTCCTTCCCCCTACGCTGGGTTC AGTGGGGTCCTTCCCCCTACGCTGGGTTCAGTGGGGTCCTTCCCCCTACG CTGGGTTCAGTGGGGTCCTTCCCCTTACGCTGTGTTCAGTGGGGTCCTTC CCCCTACACTGAGTTGAGAGGGGTCCTTCCCCCTACGCTG	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding		4035		chr19	TogoVar
OR11H4_chr14_20234286_20249349	20237780	T T	TAGTATAT others(167): Show TAGTATATAGTACATATAGTATATATAGTATATATAGTATATAGTACATA TAGTATATATAGTATATATAGTATATAGTATATATTTTATAGTATATATA GTATATATACTATATAGTATATATTATATAGTATATATACTATAAAGTAC ATAATTTATATATTACATATAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp1 others(24): Show HG00099.hp1 HG00140.hp2 HG00438.hp1 HG00558.hp2 HG00609.hp2 HG02080.hp2 HG02155.hp2 HG02622.hp1 HG02717.hp2 HG02738.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18957.hp1 NA18962.hp2 NA18980.hp1 NA18988.hp1 NA19001.hp2 NA19006.hp1 NA19065.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0020 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0161 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0002g0014 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0199 a0001c0001t0002g0212 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0233 a0002c0002t0001g0004	27	439	0.0615	174	c.-15 others(185): Show c.-1563_-1562insAGTATATAGTACATATAGTATATATAGTATATAT AGTATATAGTACATATAGTATATATAGTATATATAGTATATAGTATATAT TTTATAGTATATATAGTATATATACTATATAGTATATATTATATAGTATA TATACTATAAAGTACATAATTTATATATTACATATAATAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1505		chr14	TogoVar
OSCAR_chr19_54089668_54105803	54096556	C C	CCCTCTCT others(167): Show CCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTGC CTCTCTCTCTGCCTGCCTCTCTCTCTGCCTCCCTCTCTCTGCCTCCCTCT CTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCTCTCT CTCTGCCTCCCTCTCTCTCTGCCTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	443	0.0023	174	c.373 others(189): Show c.373+305_373+306insCAGGCAGAGAGAGAGGGAGGCAGAGAGAGA GGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGG GAGGCAGAGAGAGGGAGGCAGAGAGAGAGGCAGGCAGAGAGAGAGGCAGG CAGAGAGAGAGGGAGGCAGAGAGAGAGGGAGGCAGAGAGAGAGG	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4			chr19	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(167): Show TCCCCTCTCCCCTCTCCCCTCTCTCCTCTCCCCTCTCCCCTCCCCTTCCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTTCCCTCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	114	0.0088	174	c.-24 others(191): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAG GGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGG AAGGGGAGGGGAGAGGGGAGAGGAGAGAGGGGAGAGGGGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(167): Show AGGGAAGGGAAGAGGGGGGGGAAAGGGAAGGGAAGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAAGGAAGGGAAGGGGAGGGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA20905.hp1 HG00735.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0089 a0001c0001t0001g0092	2	302	0.0066	174	c.155 others(191): Show c.1551+378_1551+379insCTTCCCTCCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTTCCCTTCCCTTTCCCCCCCCTCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAQR5_chr15_69293912_69412780	69364467	T T	TATTATAT others(167): Show TATTATATATGTTATATATATACATTATATATGTTATATATATACATTAT ATATGTAATATATATACATTATATATGTTATATATATACATTATATATGT AATATATATACATTATATATGTTATATATATACATTATATATGTAATATA TATACATTATATATGTTATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	284	0.0035	174	c.51+ others(189): Show c.51+4347_51+4348insTATATATATACATTATATATGTTATATATA TACATTATATATGTAATATATATACATTATATATGTTATATATATACATT ATATATGTAATATATATACATTATATATGTTATATATATACATTATATAT GTAATATATATACATTATATATGTTATATATACATTATATATGT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PASD1_chrX_151558675_151681739	151562914	G G	GGGCGGGG others(167): Show GGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGG GGGCGGCGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGGGGCG GGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGG GGGGCGGGGGCGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0195 a0001c0002t0002g0195	1	221	0.0045	174	c.-95 others(183): Show c.-953_-952insGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGG CAGCTGGGGCGGGGGGCGGCGGGGGGCGGGGGGGCGGGGGGCGGCGGGGG GCGGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGG GCGGGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		760		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562915	G G	GGCGGGGG others(167): Show GGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGG GGCGGCGGGGGGCGGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGGCGGG GGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGCGGGG GGGGCGGGGGCGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0191 a0001c0001t0001g0202	2	221	0.0091	174	c.-95 others(183): Show c.-952_-951insGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGC AGCTGGGGCGGGGGGCGGCGGGGGGCGGGGGGGGCGGGGGGCGGCGGGGG GCGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGG GGCGGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		759		chrX	TogoVar
PCBP3_chr21_45638725_45947450	45896574	C C	CAGACATG others(167): Show CAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGGCACTG TAGGAAAGGCGGCCGCGGCACATAGAACCAGAGATGCACTGCCCGGGCCA TTGTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGACGCACTG CCTGGGCCATTGTCTCTGTAGGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0224 a0001c0001t0019g0224	1	292	0.0034	174	c.165 others(189): Show c.165+212_165+213insAGACATGGCACATAGAACCGGAGATGCACT GCCCGGGCCATTGGCACTGTAGGAAAGGCGGCCGCGGCACATAGAACCAG AGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCACA TAGAACCGGAGACGCACTGCCTGGGCCATTGTCTCTGTAGGAAA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(167): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCC CAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCCCCC CCCCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	292	0.0034	174	c.471 others(189): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCCCCCCC CACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CCCCCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGAT ACGGACCCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	714974	G G	GTGAGTGT others(167): Show GTGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTG TGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAAC TGGGCGTCGGTGCTGGGACCCTGTAGACTCTGTGAGTGTGAGAACTGGGT GTCGGTGCTGGGACCCTGTAGACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0243 a0001c0001t0044g0243	1	366	0.0027	174	c.-19 others(193): Show c.-190+9022_-190+9195dupTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGAGTGT GAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACTCTGTGAGTGTGAGAA CTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	715674	G G	GAGTGTGA others(167): Show GAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGTGAGTG TGAGAACCGGGCATCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGCAC TGGGCGTCGGTGCTGGGACCCTGTAGACACTGTGAGTGTGAGAACTGGGC GTCTGTGCTGGGACCCTATAGACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0006 a0001c0001t0061g0006	1	366	0.0027	174	c.-19 others(193): Show c.-190+9704_-190+9705insAGTGTGAGAACTGGGCGTCGGTGCTG GGACCCTGTAGACACTGTGAGTGTGAGAACCGGGCATCGGTGCTGGGACC CTGTAGACACTGAGTGTGAGCACTGGGCGTCGGTGCTGGGACCCTGTAGA CACTGTGAGTGTGAGAACTGGGCGTCTGTGCTGGGACCCTATAGACAC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10			chr4	TogoVar
PCSK2_chr20_17222040_17489578	17449526	G G	GTGTATAT others(167): Show GTGTATATATATATATATGTATGTATGTATATATATATATATATATGTAT GTATGTATATATATATATATGTATGTATGTATGTATATATATATATATGT ATGTATGTATATATATATATATATATGTATGTATGTGTATATATATATAT ATATATGTATGTATGTATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0162 a0001c0001t0003g0027 a0001c0001t0003g0162	2	274	0.0073	174	c.886 others(191): Show c.886-4215_886-4214insGTATATATATATATATGTATGTATGTAT ATATATATATATATATGTATGTATGTATATATATATATATGTATGTATGT ATGTATATATATATATATGTATGTATGTATATATATATATATATATGTAT GTATGTGTATATATATATATATATATGTATGTATGTATATATATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PDGFC_chr4_156755454_156976799	156825575	T T	TGAAGAAG others(167): Show TGAAGAAGAAGAAGAAGAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGA AGGAGAAGAAGGAGAAGAAGGAGAAGGAGAAGAAGGAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0172 a0001c0001t0009g0172	1	208	0.0048	174	c.315 others(193): Show c.315-14559_315-14558insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTTCTCCTTCTTCTCCTT CTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCTTCTTCTTCTTCTTC	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDIA2_chr16_278164_292215	285902	T T	TCCCAACC others(167): Show TCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0085 a0006c0023t0001g0085	1	436	0.0023	174	c.111 others(191): Show c.1119+214_1119+215insAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT CCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHRF1_chr11_571470_617222	589839	A A	AGTCTGCA others(167): Show AGTCTGCAAACGGGCACGGAGCGTGCGGGGCTCAGCCTGAGAATGTCTGC AAACGGGCATGGAGCGTGCAGGGTTCAGCCTGAGAGGGTGTCTGCAAACG GGCACGGAGCGTGCGGGGCTCAGCCTGAGAGTCTGCAAACGGGCACGGAG CGTGTGGGGCTCAGCCTCAGAGAGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG02717.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0011 a0001c0009 a0002c0011	a0001c0009t0002 a0002c0011t0001 a0001c0009t0002 a0002c0011t0001	a0001c0009t0002g0131 a0002c0011t0001g0065 a0001c0009t0002g0131 a0002c0011t0001g0065	2	279	0.0072	174	c.421 others(191): Show c.421-1539_421-1366dupCAAACGGGCACGGAGCGTGCGGGGCTCA GCCTGAGAATGTCTGCAAACGGGCATGGAGCGTGCAGGGTTCAGCCTGAG AGGGTGTCTGCAAACGGGCACGGAGCGTGCGGGGCTCAGCCTGAGAGTCT GCAAACGGGCACGGAGCGTGTGGGGCTCAGCCTCAGAGAGTGTCTG	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	589855	C C	CAGAGCGT others(167): Show CAGAGCGTGCGGGGCTCAGCCTGAGAATGTCTGCAAACGGGCATGGAGCG TGCAGGGTTCAGCCTGAGAGGGTGTCTGCAAACGGGCACGGAGCGTGCGG GGCTCAGCCTGAGAGTCTGCAAACGGGCACGGAGCGTGTGGGGCTCAGCC TCAGAGAGTGTCTGCAAACGGGCAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	279	0.0036	174	c.421 others(191): Show c.421-1529_421-1528insAGAGCGTGCGGGGCTCAGCCTGAGAATG TCTGCAAACGGGCATGGAGCGTGCAGGGTTCAGCCTGAGAGGGTGTCTGC AAACGGGCACGGAGCGTGCGGGGCTCAGCCTGAGAGTCTGCAAACGGGCA CGGAGCGTGTGGGGCTCAGCCTCAGAGAGTGTCTGCAAACGGGCAT	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17			chr11	TogoVar
PHRF1_chr11_571470_617222	589855	C C	CGGAGCGT others(167): Show CGGAGCGTGCGGGGCTCAGCCTGAGAATGTCTGCAAACGGGCATGGAGCA TGCAGGGTTCAGCCTGAGAGGGTGTCTGCAAACGGGCACGGAGCGTGCGG GGCTCAGCCTGAGAGTCTGCAAACGGGCACGGAGCGTGTGGGGCTCAGCC TCAGAGAGTGTCTGCAAACGGGCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp2 HG01167.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0265 a0001c0001t0001g0235 a0001c0001t0001g0265	2	279	0.0072	174	c.421 others(191): Show c.421-1481_421-1480insATGCAGGGTTCAGCCTGAGAGGGTGTCT GCAAACGGGCACGGAGCGTGCGGGGCTCAGCCTGAGAGTCTGCAAACGGG CACGGAGCGTGTGGGGCTCAGCCTCAGAGAGTGTCTGCAAACGGGCATGG AGCGTGCGGGGCTCAGCCTGAGAATGTCTGCAAACGGGCATGGAGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	589855	C C	CGGAGCGT others(167): Show CGGAGCGTGCGGGGCTCAGCCTGAGAATGTCTGCAAACGGGCATGGAGCG TGCAGGGTTCAGCCTGAGAGGGTGTCTGCAAACGGGCACGGAGCGTGCGG GGCTCAGCCTGAGAGTCTGCAAACGGGCACGGAGCGTGTGGGGCTCAGCC TCAGAGAGTGTCTGCAAACGGGCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(90): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG01106.hp1 HG01106.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02622.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp2 HG03195.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA19000.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19087.hp2 NA20129.hp1 NA20752.hp2	a0001 a0011 a0020 others(2): Show a0001 a0011 a0020 a0022 a0023	a0001c0001 a0001c0014 a0001c0018 others(7): Show a0001c0001 a0001c0014 a0001c0018 a0001c0023 a0001c0033 a0001c0034 a0011c0016 a0020c0032 a0022c0035 a0023c0036	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0014t0001 a0001c0018t0001 a0001c0023t0001 a0001c0033t0014 a0001c0034t0001 a0011c0016t0001 a0020c0032t0001 a0022c0035t0001 a0023c0036t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0060 others(90): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0006g0163 a0001c0001t0006g0212 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0007g0196 a0001c0001t0007g0201 a0001c0014t0001g0144 a0001c0018t0001g0112 a0001c0018t0001g0113 a0001c0023t0001g0231 a0001c0033t0014g0105 a0001c0034t0001g0120 a0011c0016t0001g0069 a0011c0016t0001g0087 a0020c0032t0001g0167 a0022c0035t0001g0243 a0023c0036t0001g0110	93	279	0.3333	174	c.421 others(191): Show c.421-1366_421-1365insCAAACGGGCATGGAGCGTGCGGGGCTCA GCCTGAGAATGTCTGCAAACGGGCATGGAGCGTGCAGGGTTCAGCCTGAG AGGGTGTCTGCAAACGGGCACGGAGCGTGCGGGGCTCAGCCTGAGAGTCT GCAAACGGGCACGGAGCGTGTGGGGCTCAGCCTCAGAGAGTGTCTG	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHRF1_chr11_571470_617222	590072	T T	TGGAGCGT others(167): Show TGGAGCGTGCAGGGTTCAGCCTGAGAGGGTGTCTGCAAACGGGCACGGAG CGTGCGGGGCTCAGCCTGAGAGTCTGCAAACGGGCACGGAGCGTGTGGGG CTCAGCCTCAGAGAGTGTCTGCAAACGGGCATGGAGCGTGCGGGGCTCAG CCTGAGAATGTCTGCAAACGGGCAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01256.hp2 others(7): Show HG00741.hp1 HG01099.hp2 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG02486.hp1 HG03139.hp2 HG03490.hp2 HG06807.hp1 NA19043.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0012	a0001c0001 a0002c0002 a0010c0015 others(1): Show a0001c0001 a0002c0002 a0010c0015 a0012c0017	a0001c0001t0001 a0002c0002t0001 a0010c0015t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0010c0015t0001 a0012c0017t0001	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0141 others(6): Show a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0141 a0001c0001t0001g0143 a0002c0002t0001g0072 a0002c0002t0001g0104 a0010c0015t0001g0004 a0012c0017t0001g0103 a0012c0017t0001g0148	10	279	0.0358	174	c.421 others(191): Show c.421-1303_421-1302insAGGGTTCAGCCTGAGAGGGTGTCTGCAA ACGGGCACGGAGCGTGCGGGGCTCAGCCTGAGAGTCTGCAAACGGGCACG GAGCGTGTGGGGCTCAGCCTCAGAGAGTGTCTGCAAACGGGCATGGAGCG TGCGGGGCTCAGCCTGAGAATGTCTGCAAACGGGCACGGAGCGTGC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIAS4_chr19_4002736_4044386	4036195	T T	TCACACAT others(167): Show TCACACATCCGTACAGTCCACATCATCACACACATCCATACAGTCCACAC CATCACACACACATCCATACAGTCCACACCATCACACACACATCCATACA GTCCACACCGTCACACACACACATCTATACAGTCCACACCATCACACACA CATCTGTACAATCCACACCTTCACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(77): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18942.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA19007.hp2 NA19059.hp1 NA19060.hp2 NA19079.hp1 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0010 a0001c0002t0018 a0001c0009t0001 a0001c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(70): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0265 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0010g0140 a0001c0001t0013g0052 a0001c0001t0014g0135 a0001c0001t0016g0023 a0001c0002t0001g0044 a0001c0002t0001g0078 a0001c0002t0010g0105 a0001c0002t0018g0138 a0001c0009t0001g0010 a0001c0009t0001g0072 a0001c0009t0001g0073 a0001c0009t0001g0074 a0001c0016t0001g0125	80	334	0.2395	174	c.114 others(193): Show c.1143-1170_1143-1169insGTACAGTCCACATCATCACACACATC CATACAGTCCACACCATCACACACACATCCATACAGTCCACACCATCACA CACACATCCATACAGTCCACACCGTCACACACACACATCTATACAGTCCA CACCATCACACACACATCTGTACAATCCACACCTTCACACACACATCC	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4036195	T T	TCACACAT others(167): Show TCACACATCCGTACAGTCCACATCATCACACACATCCATACAGTCCACAC CATCACACACACATCCATACAGTCCACACCATCACACACACATCCATACA GTCCACACCGTCACACACACACATCTATACAGTCCACACCGTCACACACA CATCTGTACAATCCACACCTTCACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	334	0.0030	174	c.114 others(193): Show c.1143-1170_1143-1169insGTACAGTCCACATCATCACACACATC CATACAGTCCACACCATCACACACACATCCATACAGTCCACACCATCACA CACACATCCATACAGTCCACACCGTCACACACACACATCTATACAGTCCA CACCGTCACACACACATCTGTACAATCCACACCTTCACACACACATCC	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKP3_chr11_389209_409908	398584	C C	CTACCCCC others(167): Show CTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCGTACCCCCGCACACACCTCTGTCACCTCCCTACC CCCGCACACACCTGCGTCACCTCCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	216	0.0046	174	c.106 others(191): Show c.1069-362_1069-361insCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCA TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398642	C C	CTACCCCC others(167): Show CTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18947.hp1 HG02735.hp2 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0001 a0001c0002t0001 a0001c0009t0001	a0001c0002t0001g0142 a0001c0009t0001g0138 a0001c0002t0001g0142 a0001c0009t0001g0138	2	216	0.0093	174	c.106 others(191): Show c.1069-333_1069-332insCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCATACCCCCGCACACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186857071	C C	CTTTTAAC others(167): Show CTTTTAACATGGCAGTCATATATAATATATATTATATAATATTATATATT ATATATTATATATTATATAATATATATTATATAATATATATTATATATTA TATAATATAATTATATATTATATAATTATATAATTATATAATATATTATA TAATTATATAATTATATAATATATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00609.hp1 others(48): Show HG00323.hp2 HG00597.hp2 HG00609.hp1 HG00738.hp1 HG01081.hp2 HG01192.hp1 HG01258.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02155.hp1 HG02572.hp1 HG02698.hp2 HG02735.hp2 HG02897.hp1 HG03041.hp2 HG03490.hp1 NA18941.hp2 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18974.hp1 NA18978.hp2 NA18980.hp2 NA18997.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0003 a0001c0010 others(4): Show a0001c0001 a0001c0003 a0001c0010 a0001c0015 a0002c0002 a0005c0008 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0010t0001 a0001c0015t0001 a0002c0002t0001 a0005c0008t0001 a0007c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0024 others(48): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0238 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0305 a0001c0001t0003g0096 a0001c0003t0001g0117 a0001c0010t0001g0069 a0001c0015t0001g0135 a0002c0002t0001g0108 a0005c0008t0001g0222 a0007c0007t0001g0090	51	310	0.1645	174	c.33+ others(189): Show c.33+2684_33+2685insTTTTAACATGGCAGTCATATATAATATATA TTATATAATATTATATATTATATATTATATATTATATAATATATATTATA TAATATATATTATATATTATATAATATAATTATATATTATATAATTATAT AATTATATAATATATTATATAATTATATAATTATATAATATATT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186857071	C C	CTTTTAAC others(167): Show CTTTTAACATGGCAGTCATATATAATATATATTATATAATGTTATATATT ATATATTATATAATATATATTATATAATATATATTATATATTATATAATA TATATTATATAATATATATTATATATTATATAATATAATTATATATTATG TAATTATATAATATATAATTATATT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	310	0.0032	174	c.33+ others(189): Show c.33+2684_33+2685insTTTTAACATGGCAGTCATATATAATATATA TTATATAATGTTATATATTATATATTATATAATATATATTATATAATATA TATTATATATTATATAATATATATTATATAATATATATTATATATTATAT AATATAATTATATATTATGTAATTATATAATATATAATTATATT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	175850	C C	CCCCTCCA others(167): Show CCCCTCCAGGCAGACACGACCAGGGCTCCTGCACGGCTGCACCCCGCCTG AGCCCTGACCCCTCCAGGCAGACACGACCAGGGCTCCTGCACGGCTGCAC CCCGCCTGAGCCCTGACCCCCTCCAGGCAGACACGACCAGGGCTCCTGCA CGGCTGCACCCCGCCTGAGCCCTGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0014 a0014	a0014c0066 a0014c0066	a0014c0066t0051 a0014c0066t0051	a0014c0066t0051g0170 a0014c0066t0051g0170	1	210	0.0048	174	c.440 others(193): Show c.4402+1755_4402+1756insTCCAGGCAGACACGACCAGGGCTCCT GCACGGCTGCACCCCGCCTGAGCCCTGACCCCTCCAGGCAGACACGACCA GGGCTCCTGCACGGCTGCACCCCGCCTGAGCCCTGACCCCCTCCAGGCAG ACACGACCAGGGCTCCTGCACGGCTGCACCCCGCCTGAGCCCTGACCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	175926	G G	GACCAGGG others(167): Show GACCAGGGCTCCTGCACGGCCGCACCCCGCCTGAGCCCTGACCCCTCCAG GCAGACACGACCAGGGCTCCTGCACGGCCGCACCCCGCCTGAGCCCTGAC CCCTCCAGGCAGACACAACCAGGGCTCCTGCACGGCCGCACCCCGCCTGA GCCCTGACCCCTCCAGGCAGACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0046 a0001c0001t0028g0046	1	210	0.0048	174	c.440 others(193): Show c.4402+1847_4402+1848insCGCACCCCGCCTGAGCCCTGACCCCT CCAGGCAGACACGACCAGGGCTCCTGCACGGCCGCACCCCGCCTGAGCCC TGACCCCTCCAGGCAGACACAACCAGGGCTCCTGCACGGCCGCACCCCGC CTGAGCCCTGACCCCTCCAGGCAGACACAACCAGGGCTCCTGCACGGC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLXDC2_chr10_19811432_20294856	20014367	C C	CTTCCTTC others(167): Show CTTCCTTCCTTCCTTCCTTCCTTGCTTCCTTCCTTCCTTCCCTCCTTCCT TCCCTCCTTCCTTCCTTCCTCTCTCCCTCTCTCTTTCTCTCCTTCCTTCC TTTTTTCCTTCCTTCCTTCCTTCCCTCCCCCCACTTTCCTTCCTTCCTTC TCCCCACCTCCCTCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG01169.hp2 others(6): Show HG00639.hp1 HG01167.hp1 HG01169.hp2 HG01496.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp1 NA18945.hp1 NA18961.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 others(3): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0103 a0002c0002t0020 a0003c0003t0042	a0001c0001t0012g0028 a0001c0001t0012g0176 a0001c0001t0013g0088 others(6): Show a0001c0001t0012g0028 a0001c0001t0012g0176 a0001c0001t0013g0088 a0001c0001t0013g0089 a0001c0001t0016g0033 a0001c0001t0016g0034 a0001c0001t0103g0130 a0002c0002t0020g0121 a0003c0003t0042g0022	9	180	0.0500	174	c.324 others(193): Show c.324+12395_324+12396insCCTTCCTTGCTTCCTTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCTTCCTCTCTCCCTCTCTCTTTCTCTC CTTCCTTCCTTTTTTCCTTCCTTCCTTCCTTCCCTCCCCCCACTTTCCTT CCTTCCTTCTCCCCACCTCCCTCCCTCCTTCCCTTTCCTTCCTTCCTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP1R12C_chr19_55085918_55122637	55097302	A A	ACGCAGTT others(167): Show ACGCAGTTCACCACCGTCTTCACCCCTTCCCTGCAGTTCACCACCGTCTT CGCCCCTTCCCCGCAGTTCACCGTCTTCACCCCTTCCCTGCAGTTCACCA CCGTCTTCGCCCCTTCCCCGCAGTTCACCGTCTTCACCCCTTCCCTGCAG TTCACCACCGTCTTCGCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02897.hp1 others(4): Show HG02630.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0001g0173 others(4): Show a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275	7	390	0.0180	174	c.952 others(189): Show c.952-968_952-967insGGGAAGGGGCGAAGACGGTGGTGAACTGCA GGGAAGGGGTGAAGACGGTGAACTGCGGGGAAGGGGCGAAGACGGTGGTG AACTGCAGGGAAGGGGTGAAGACGGTGAACTGCGGGGAAGGGGCGAAGAC GGTGGTGAACTGCAGGGAAGGGGTGAAGACGGTGGTGAACTGCG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP1R12C_chr19_55085918_55122637	55097333	T T	TGCAGTTC others(167): Show TGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCAGTTCACCGTCTTCACC CCTTCCCTGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCAGTTCACCGT CTTCACCCCTTCCCTGCAGTTCACCACCGTCTTCGCCCCTTCCCCGCAGT TCACCACCGTCTTCACCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02615.hp1 others(3): Show HG02109.hp2 HG02145.hp2 HG02615.hp1 HG02630.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0272 a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0272	6	390	0.0154	174	c.952 others(189): Show c.952-999_952-998insGGGGAAGGGGTGAAGACGGTGGTGAACTGC GGGGAAGGGGCGAAGACGGTGGTGAACTGCAGGGAAGGGGTGAAGACGGT GAACTGCGGGGAAGGGGCGAAGACGGTGGTGAACTGCAGGGAAGGGGTGA AGACGGTGAACTGCGGGGAAGGGGCGAAGACGGTGGTGAACTGC	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	6/21			chr19	TogoVar
PPP3CA_chr4_101018418_101352526	101106453	G G	GAAAGAAA others(167): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	192	0.0052	174	c.384 others(191): Show c.384+2500_384+2501insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PRDM15_chr21_41793225_41884344	41855977	T T	TCCTTCCT others(167): Show TCCTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCTCCCCTCC CTCCCTTCCTTTCCTTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCT CCCTCCCCTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTTCCTTCCTTTC CTTCCTTCCCTCCCTCCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	406	0.0025	174	c.286 others(191): Show c.286-1160_286-1159insGAGGGAGGGGAGGGAGGGAAGGAAGGAA AGGAAGGAAGGGAGGGGAGGGAGGGAAGGAAGGGAGGGAGGGGAGGGAGG GAAGGAAGGGAGGGAGGGGAGGGAGGGAAGGAAGGAAAGGAAGGGAGGGA GGGGAGGGAGGGAAGGAAGGGAGGGAGGGGAGGGAGGGAAGGAAGG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRKCZ_chr1_2045411_2190395	2106546	A A	GCGTGTCA others(167): Show GCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGG ACCTCCACGTGTGTCACCAGGCGAGGTAACTCTCAGCAAGCCCCTCCGGT GGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCC CCTCCAGTGGGCGAGGACCTCCACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0286 a0001c0002t0009g0286	1	286	0.0035	174	c.335 others(193): Show c.335-28717_335-28716insGCGTGTCACCAGGCCAGGTAACTCTC AGCAAGCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCGAGG TAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTCACC AGGCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCAC	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKN_chr6_161342417_162732766	162010701	T T	TATTATAT others(167): Show TATTATATATATTATATATAATATATTATATAATATATAACATATATTAT ACAATATATTATATAATATATATTATATATAATATATTATATATTATATA ATATTAATATATATAATATATAATATAATATATTATATAATATATAATAT AATATATTATATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0010	1	32	0.0313	174	c.619 others(193): Show c.619-37285_619-37284insTATATTATATATTATATAATATATTA TATTATATATTATATAATATATTATATTATATATTATATATATTAATATT ATATAATATATAATATATTATATATAATATATATTATATAATATATTGTA TAATATATGTTATATATTATATAATATATTATATATAATATATATAAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRPF6_chr20_63976132_64038100	64012633	T T	TCTTTCTT others(167): Show TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0207 a0001c0009t0001g0207	1	294	0.0034	174	c.152 others(193): Show c.1524+1134_1524+1307dupTCTTTGCTAGTAGAAATGATACACCT ACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAAT GATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCT AGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTT	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64012810	T T	TCTTTCTT others(167): Show TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0095 a0001c0001t0001g0005 a0001c0001t0001g0095	3	294	0.0102	174	c.152 others(193): Show c.1524+1360_1524+1361insCGGCTTCTTTCTTTGCTAGTAGAAAT GATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCT AGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTTC TTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCA	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRUNE2_chr9_76606376_76911114	76791208	T T	TATACTGC others(167): Show TATACTGCACCAATTATCATTGGTACAATAATACTGCACCAATTATCATT GGTACAATAATACTGCACCAATTATCATTGGTACAATAATACTGCACCAA TTATCATTGGTACAATAATACTGCACCAATTATCATTGGTACAATAATAC TGCACCAATTATCATTGGTACAATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0019 a0011c0018t0019	a0011c0018t0019g0140 a0011c0018t0019g0140	1	240	0.0042	174	c.756 others(193): Show c.756+32250_756+32423dupTATTGTACCAATGATAATTGGTGCAG TATTATTGTACCAATGATAATTGGTGCAGTATTATTGTACCAATGATAAT TGGTGCAGTATTATTGTACCAATGATAATTGGTGCAGTATTATTGTACCA ATGATAATTGGTGCAGTATTATTGTACCAATGATAATTGGTGCAGTAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76791336	A A	ATTATCAT others(167): Show ATTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTACAATAATA CTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTA CAATAATACTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTAT CATTGGTACAATAATACTGCACCAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG01891.hp1 HG03139.hp1	a0003 a0020 a0003 a0020	a0003c0015 a0020c0058 a0003c0015 a0020c0058	a0003c0015t0003 a0020c0058t0032 a0003c0015t0003 a0020c0058t0032	a0003c0015t0003g0160 a0020c0058t0032g0171 a0003c0015t0003g0160 a0020c0058t0032g0171	2	240	0.0083	174	c.756 others(193): Show c.756+32295_756+32296insCTGGTGCAGTATTATTGTACCAATGA TAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGTATTATTGT ACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGT ATTATTGTACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar

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