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
NEK11_chr3_131021877_131355465	131282270	T T	TTAGTCTG others(309): Show TTAGTCTGGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG02451.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0091 a0002c0002t0001g0086 a0002c0002t0001g0091	2	292	0.0069	316	c.171 others(335): Show c.1718+8708_1718+8709insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCTAGTCTGGCATT		NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
NELL2_chr12_44503278_44881315	44737351	T T	TCAATAAC others(309): Show TCAATAACTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp1 others(12): Show HG00408.hp1 HG00558.hp2 HG00621.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG02015.hp1 HG02027.hp2 HG02135.hp2 HG02155.hp1 HG03017.hp1 HG03704.hp1 NA19004.hp2 NA19056.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0071 a0001c0001t0002g0134 a0001c0001t0003g0049 others(12): Show a0001c0001t0001g0071 a0001c0001t0002g0134 a0001c0001t0003g0049 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0003g0102 a0001c0001t0004g0009 a0001c0001t0004g0015 a0001c0001t0005g0045 a0001c0001t0006g0032 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0008g0013	15	158	0.0949	316	c.995 others(335): Show c.995-22611_995-22610insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGTTATTG		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	9/19						chr12	TogoVar
NEU4_chr2_241804193_241822413	241806532	A A	ACCCTCCC others(309): Show ACCCTCCCTCCTCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCTCCTCAACCC AGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCT CAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGA CGTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0107 a0002c0003t0003g0107	1	319	0.0031	316	c.-27 others(327): Show c.-2746_-2745insCCCTCCCTCCTCCCTCAGCCCAGGGACGTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCC CTCCCTCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCTCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACGTCTGCAGGCCACCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2660		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(309): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCC ACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAA CCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAA GCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01070.hp1 others(24): Show HG00609.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp2 HG03195.hp2 HG03579.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18612.hp1 NA18941.hp1 NA19007.hp1 NA19007.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0011c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0044 a0001c0001t0124 a0001c0001t0157 a0001c0001t0158 a0002c0002t0002 a0002c0002t0019 a0002c0002t0035 a0002c0002t0089 a0002c0002t0104 a0003c0003t0068 a0005c0005t0018 a0011c0013t0002	a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0259 others(24): Show a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0259 a0001c0001t0001g0364 a0001c0001t0004g0235 a0001c0001t0005g0208 a0001c0001t0012g0305 a0001c0001t0013g0211 a0001c0001t0016g0260 a0001c0001t0016g0281 a0001c0001t0016g0292 a0001c0001t0044g0303 a0001c0001t0124g0278 a0001c0001t0157g0290 a0001c0001t0158g0286 a0002c0002t0002g0196 a0002c0002t0002g0227 a0002c0002t0002g0295 a0002c0002t0019g0301 a0002c0002t0019g0304 a0002c0002t0035g0302 a0002c0002t0089g0300 a0002c0002t0104g0218 a0003c0003t0068g0038 a0005c0005t0018g0111 a0005c0005t0018g0112 a0011c0013t0002g0239	27	366	0.0738	316	c.-16 others(337): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCC GCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTC CTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGC		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(309): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCC ACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAA CCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGCA GCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0086 a0003c0003t0086	a0003c0003t0086g0116 a0003c0003t0086g0116	1	366	0.0027	316	c.-16 others(337): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCC GCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTC CTGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCCTGAAGC		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NFRKB_chr11_129858636_129900578	129889647	T T	TAAAGAAG others(309): Show TAAAGAAGTGCTGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCAGTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	410	0.0024	316	c.136 others(331): Show c.136-853_136-852insTTTTTTTTTTTTTTTTTTTTGAGACGGCGT CTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTATCAGCACTTCTTT		NFRKB	ENSG00000170322.15	transcript	ENST00000682444.1	protein_coding	3/26						chr11	TogoVar
NOCT_chr4_139010781_139050939	139047049	T T	TAGAAGCT others(309): Show TAGAAGCTGTATGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGGCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02280.hp2 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0002 a0001c0003t0004	a0001c0003t0002g0292 a0001c0003t0004g0302 a0001c0003t0002g0292 a0001c0003t0004g0302	2	384	0.0052	316	c.15 others(327): Show c.1575_*1576insAGAAGCTGTATGTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAA AATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGGCT GCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA		NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding					1111		chr4	TogoVar
NOS1AP_chr1_162064691_162375475	162110292	A A	ACCAGCCA others(309): Show ACCAGCCAAATAACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02647.hp1 others(2): Show HG01243.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0014 a0001c0002t0009 others(2): Show a0001c0001t0002 a0001c0001t0014 a0001c0002t0009 a0001c0003t0003 a0001c0005t0007	a0001c0001t0002g0146 a0001c0001t0014g0083 a0001c0002t0009g0145 others(2): Show a0001c0001t0002g0146 a0001c0001t0014g0083 a0001c0002t0009g0145 a0001c0003t0003g0084 a0001c0005t0007g0010	5	182	0.0275	316	c.105 others(335): Show c.105+40027_105+40028insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGCCAAATAACTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NPR3_chr5_32706321_32796720	32741050	T T	TAGGTTCA others(309): Show TAGGTTCATATTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0054 a0002c0002t0054	a0002c0002t0054g0167 a0002c0002t0054g0167	1	320	0.0031	316	c.105 others(335): Show c.1059+2037_1059+2038insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAGGTTCATATTAATTTT		NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(309): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	384	0.0026	316	c.-6- others(333): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10						chr7	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(309): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	384	0.0026	316	c.-6- others(333): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10						chr7	TogoVar
NTM_chr11_131365615_132341822	131491426	T T	TAAAAAAT others(309): Show TAAAAAATTATTACTTGTGGCCGGGCGCGGTGGCTCACGCCTCTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19240.hp2 NA20300.hp2 HG03471.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0007g0021 a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0007g0021	3	86	0.0349	316	c.82+ others(335): Show c.82+120556_82+120557insGCCGGGCGCGGTGGCTCACGCCTCTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAATTATTACTTGTG		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(309): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0191 a0003c0003t0003g0191	1	360	0.0028	316	c.-30 others(327): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAACTTTAAATG		NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding					2982		chr8	TogoVar
NXN_chr17_794310_984776	952769	A A	AGAGACCA others(309): Show AGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGG AGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02970.hp1 HG02055.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0101 a0001c0003t0008g0179 a0001c0001t0001g0101 a0001c0003t0008g0179	2	242	0.0083	316	c.360 others(335): Show c.360+26549_360+26550insACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AAAAGAAA others(309): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	296	0.0034	316	c.-18 others(325): Show c.-181_-180insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					146		chr13	TogoVar
OR1F1_chr16_3183204_3211556	3198036	A A	AAGGAGAG others(309): Show AAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAG GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGG AGAGGGAGAAGGAGAGGGAGAAGGAGAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA AGGAGAGGGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0262 a0004c0004t0003g0262	1	328	0.0031	316	c.-12 others(333): Show c.-12-6199_-12-6198insAGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG AGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAG AGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAA GGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGG AGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAG		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3						chr16	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTAGT others(309): Show CTTGTAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0289 a0002c0002t0007g0289	1	318	0.0031	316	c.-27 others(335): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTACAA		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4						chr17	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTAGT others(309): Show CTTGTAGTATAGTATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp2 HG02004.hp2 others(4): Show HG00735.hp1 HG01358.hp2 HG02004.hp2 HG02523.hp1 HG02559.hp2 HG02717.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007	a0002c0002t0005g0219 a0002c0002t0005g0225 a0002c0002t0005g0227 others(4): Show a0002c0002t0005g0219 a0002c0002t0005g0225 a0002c0002t0005g0227 a0002c0002t0006g0218 a0002c0002t0007g0283 a0002c0002t0007g0288 a0002c0002t0007g0293	7	318	0.0220	316	c.-27 others(335): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATACTATACTACAA		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4						chr17	TogoVar
OS9_chr12_57689132_57726557	57689476	C C	CAAAAAAC others(309): Show CAAAAAACATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01255.hp1 others(29): Show HG00738.hp2 HG01167.hp2 HG01255.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0001c0013 others(1): Show a0001c0001 a0001c0010 a0001c0013 a0004c0009	a0001c0001t0001 a0001c0010t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0001c0013t0001 a0004c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0096 others(28): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0010t0001g0112 a0001c0013t0001g0116 a0004c0009t0001g0009	32	352	0.0909	316	c.-46 others(327): Show c.-4686_-4685insAAAAAACATTATAGTTTGGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA		OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding					4655		chr12	TogoVar
OS9_chr12_57689132_57726557	57689483	C C	CATTATAG others(309): Show CATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01928.hp2 others(19): Show HG00642.hp2 HG01081.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG02074.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp2 HG03831.hp2 HG04199.hp2 NA18943.hp2 NA18957.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18985.hp1 NA18997.hp2 NA19005.hp1 NA19005.hp2 NA19074.hp2 NA19091.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0008c0008t0001 a0001c0001t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0280 a0008c0008t0001g0163	22	352	0.0625	316	c.-46 others(327): Show c.-4679_-4678insATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA		OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding					4648		chr12	TogoVar
OS9_chr12_57689132_57726557	57689484	A A	ATTATAGT others(309): Show ATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03195.hp1 HG02723.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0157 a0001c0001t0001g0158	2	352	0.0057	316	c.-46 others(327): Show c.-4678_-4677insTTATAGTTTGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAACT		OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding					4647		chr12	TogoVar
OSBPL6_chr2_178189512_178407893	178210338	T T	TAAAAAAA others(309): Show TAAAAAAAATCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC ATGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0057 a0001c0001t0055 a0001c0001t0057	a0001c0001t0055g0195 a0001c0001t0057g0194 a0001c0001t0055g0195 a0001c0001t0057g0194	2	200	0.0100	316	c.-35 others(337): Show c.-351+15676_-351+15677insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAA TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CCGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCCA		OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
OSGIN1_chr16_83948240_83971332	83950358	T T	TACATGCA others(309): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACA TGCACATACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02040.hp2 NA19079.hp1 HG00621.hp2 HG02040.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0113 a0001c0003t0004g0017 a0001c0001t0001g0001 a0001c0001t0001g0113 a0001c0003t0004g0017	3	350	0.0086	316	c.-30 others(327): Show c.-3045_-3044insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACACGTACACACACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGC		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2881		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950358	T T	TACATGCA others(309): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACA TGCACATACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02129.hp1 HG02165.hp1 others(3): Show HG02056.hp2 HG02129.hp1 HG02165.hp1 HG02523.hp1 HG03669.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0052 a0001c0004t0001g0048 a0001c0001t0001g0003 a0001c0001t0001g0052 a0001c0004t0001g0048	6	350	0.0171	316	c.-30 others(327): Show c.-3045_-3044insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACACACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGC		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2881		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950358	T T	TACATGCA others(309): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACGTGCACACATGCACATACATACTGG CACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACA TGCACATACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00642.hp1 others(3): Show HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01175.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0009g0087 a0001c0002t0001g0133 a0001c0004t0001g0076	6	350	0.0171	316	c.-30 others(327): Show c.-3045_-3044insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACGTGCACACAT GCACATACATACTGGCACACACGTACACACACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGC		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2881		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950478	T T	TACATGCA others(309): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACA TGCACATACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0137 a0001c0003t0004g0137	1	350	0.0029	316	c.-29 others(327): Show c.-2925_-2924insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACACGTACACACACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGC		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2761		chr16	TogoVar
OVCH2_chr11_7684437_7711477	7695672	T T	TAAGAATG others(309): Show TAAGAATGGATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02622.hp1 HG02922.hp1 HG02965.hp2 others(3): Show HG02622.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp2 NA20300.hp1	a0007 a0007	a0007c0014 a0007c0039 a0007c0040 a0007c0014 a0007c0039 a0007c0040	a0007c0014t0002 a0007c0039t0001 a0007c0040t0004 a0007c0014t0002 a0007c0039t0001 a0007c0040t0004	a0007c0014t0002g0042 a0007c0014t0002g0245 a0007c0014t0002g0247 others(2): Show a0007c0014t0002g0042 a0007c0014t0002g0245 a0007c0014t0002g0247 a0007c0039t0001g0246 a0007c0040t0004g0236	6	476	0.0126	316	c.117 others(325): Show c.1179_1180insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCATCCATTCTT	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
OVCH2_chr11_7684437_7711477	7695672	T T	TAAGAATG others(309): Show TAAGAATGGATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01243.hp2 HG02109.hp2 HG02145.hp2 others(5): Show HG01243.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02818.hp2 HG02965.hp1 HG03195.hp1 NA19043.hp1	a0007 a0007	a0007c0009 a0007c0038 a0007c0009 a0007c0038	a0007c0009t0002 a0007c0009t0004 a0007c0038t0004 a0007c0009t0002 a0007c0009t0004 a0007c0038t0004	a0007c0009t0002g0232 a0007c0009t0002g0250 a0007c0009t0004g0021 others(3): Show a0007c0009t0002g0232 a0007c0009t0002g0250 a0007c0009t0004g0021 a0007c0009t0004g0231 a0007c0009t0004g0251 a0007c0038t0004g0248	8	476	0.0168	316	c.117 others(325): Show c.1179_1180insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCATCCATTCTT	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
OXR1_chr8_106265190_106757694	106476019	G G	GCTTTCAC others(309): Show GCTTTCACAGCTTTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATTTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	172	0.0058	316	c.24- others(333): Show c.24-42907_24-42906insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTTCACAGCTTTTTCT		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
P2RY14_chr3_151207117_151283542	151241054	C C	CGGGGGAC others(309): Show CGGGGGACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAA AAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	404	0.0025	316	c.-13 others(337): Show c.-132-21413_-132-21412insATTTTTTTTTTTTTTTTTTTTTTT TTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGTCCCCC		P2RY14	ENSG00000174944.9	transcript	ENST00000309170.8	protein_coding	1/2						chr3	TogoVar
PACS1_chr11_66065272_66249744	66240777	T T	TTAATCTT others(309): Show TTAATCTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	322	0.0031	316	c.243 others(333): Show c.2430-636_2430-635insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTAATCTTGTTTTTT		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PADI4_chr1_17303197_17369004	17352038	G G	GGTGGGAG others(309): Show GGTGGGAGGAGAGGCGGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCG GCCAGGGAGGAGACAGGAGGCAGTAGGAGAGGCCGTCAGGGAGGTGATGG GAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGG CAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGAT GGGAGGTGGGAAGAGAGGCCATCAGGGAGGTGATGGGAGGTGGGAGGAGA GGCAGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGACTGTGGTCAGAGAG GTGATGGGAGGTGGGAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20300.hp1 HG03540.hp1 NA20300.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0280 a0002c0022t0001g0281 a0002c0022t0001g0280 a0002c0022t0001g0281	2	372	0.0054	316	c.115 others(335): Show c.1156-2494_1156-2493insTGGGAGGAGAGGCGGTCAGGGAGGTG ATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGAGACAGGAGGCAGTAGGA GAGGCCGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGG TGATGGGAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAA GAGAGGCAGTCAGGGAGGTGATGGGAGGTGGGAAGAGAGGCCATCAGGGA GGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGG AGGAGAGACTGTGGTCAGAGAGGTGATGGGAGGTGGGAAG		PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(309): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGG GGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAG GGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGA AGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	302	0.0033	316	c.155 others(333): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCTTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(309): Show TCCTCCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCC TCCCCTCCCCCTCCTCCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCC CCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTC CCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCC CCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCC CTCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0215 a0001c0001t0005g0215	1	308	0.0033	316	c.226 others(335): Show c.2262+7531_2262+7532insCCTCCCCTCCCCCTCCTCCCCCTCCC CTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCCTCCCCTCCCCCTC CTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCC TCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
PALS2_chr7_24568452_24699193	24571587	G G	GAAAAGAG others(309): Show GAAAAGAGTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0082 a0001c0001t0131g0082	1	378	0.0027	316	c.-20 others(327): Show c.-2009_-2008insAAAAGAGTTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA		PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding					1864		chr7	TogoVar
PARD3_chr10_34104561_34820296	34256749	T T	TATCTGTC others(309): Show TATCTGTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0011 a0001c0012t0002g0011	1	100	0.0100	316	c.341 others(337): Show c.3419+12907_3419+12908insTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCGGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAGAT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34282095	T T	TAAAATAC others(309): Show TAAAATACAAGTGCCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG03225.hp2 others(2): Show HG02055.hp1 HG02145.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0002t0016	a0001c0001t0003g0055 a0001c0001t0006g0018 a0001c0001t0012g0054 others(2): Show a0001c0001t0003g0055 a0001c0001t0006g0018 a0001c0001t0012g0054 a0001c0001t0012g0075 a0001c0002t0016g0025	5	100	0.0500	316	c.317 others(335): Show c.3176+2039_3176+2040insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCTTGAGCCACCGCGCCCGGCCTGGCACTTGTATTTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	21/24						chr10	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(309): Show TAATTTTAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	366	0.0027	316	c.494 others(333): Show c.4942-912_4942-911insGGCCAGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTA		PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(309): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02074.hp1 NA18942.hp1 others(5): Show HG00609.hp2 HG02074.hp1 NA18942.hp1 NA18943.hp2 NA19004.hp2 NA19005.hp1 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0138 others(5): Show a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0255 a0001c0001t0003g0258 a0001c0001t0003g0259	8	366	0.0219	316	c.494 others(333): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTA		PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(309): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	316	c.-26 others(327): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(309): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	436	0.0023	316	c.-26 others(327): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATATGTCTATCTATA		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(309): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	316	c.-26 others(327): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATC		PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding					2214		chr20	TogoVar
PCLO_chr7_82749012_83167884	82943481	A A	AAGAAAAC others(309): Show AAGAAAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0053 a0053	a0053c0075 a0053c0075	a0053c0075t0003 a0053c0075t0003	a0053c0075t0003g0138 a0053c0075t0003g0138	1	188	0.0053	316	c.111 others(337): Show c.11112+5994_11112+5995insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTTTCT		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	6/24						chr7	TogoVar
PCNX2_chr1_232978435_233300725	233206359	C C	CAAAAAGA others(309): Show CAAAAAGAAGATGGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG01358.hp1 others(13): Show HG01192.hp1 HG01192.hp2 HG01358.hp1 HG02040.hp1 HG03239.hp1 NA18942.hp1 NA18946.hp1 NA18978.hp2 NA18983.hp1 NA18999.hp1 NA19010.hp1 NA19011.hp2 NA19060.hp2 NA19084.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0019	a0001c0001 a0001c0009 a0001c0031 others(8): Show a0001c0001 a0001c0009 a0001c0031 a0002c0002 a0002c0011 a0003c0003 a0004c0005 a0005c0006 a0009c0012 a0009c0022 a0019c0019	a0001c0001t0001 a0001c0009t0001 a0001c0031t0006 others(9): Show a0001c0001t0001 a0001c0009t0001 a0001c0031t0006 a0002c0002t0001 a0002c0011t0001 a0003c0003t0002 a0003c0003t0008 a0004c0005t0001 a0005c0006t0002 a0009c0012t0002 a0009c0022t0002 a0019c0019t0001	a0001c0001t0001g0093 a0001c0009t0001g0074 a0001c0009t0001g0109 others(13): Show a0001c0001t0001g0093 a0001c0009t0001g0074 a0001c0009t0001g0109 a0001c0031t0006g0079 a0002c0002t0001g0057 a0002c0011t0001g0127 a0003c0003t0002g0048 a0003c0003t0002g0134 a0003c0003t0008g0136 a0004c0005t0001g0066 a0004c0005t0001g0110 a0005c0006t0002g0124 a0005c0006t0002g0126 a0009c0012t0002g0064 a0009c0022t0002g0121 a0019c0019t0001g0045	16	146	0.1096	316	c.286 others(335): Show c.2863+2158_2863+2159insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGCCATCTTCTTTTT		PCNX2	ENSG00000135749.20	transcript	ENST00000258229.14	protein_coding	13/33						chr1	TogoVar
PCNX4_chr14_60086923_60153221	60108768	A A	AATATTGA others(309): Show AATATTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01361.hp2 HG01433.hp1 others(32): Show HG00609.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02074.hp2 HG02257.hp1 HG02602.hp2 HG02717.hp1 HG02818.hp1 HG03710.hp1 HG03831.hp1 HG04204.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp2 NA18948.hp1 NA18979.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19006.hp2 NA19043.hp2 NA19057.hp2 NA19059.hp2 NA19066.hp1 NA19078.hp2 NA19079.hp2 NA19087.hp1 NA19090.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0021 a0001 a0006 a0021	a0001c0001 a0001c0021 a0006c0005 others(1): Show a0001c0001 a0001c0021 a0006c0005 a0021c0019	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0033 a0001c0001t0042 a0001c0001t0043 a0001c0021t0032 a0006c0005t0001 a0006c0005t0006 a0021c0019t0050	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0037 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0006g0020 a0001c0001t0006g0172 a0001c0001t0007g0187 a0001c0001t0008g0037 a0001c0001t0008g0138 a0001c0001t0008g0144 a0001c0001t0010g0150 a0001c0001t0011g0140 a0001c0001t0017g0125 a0001c0001t0033g0038 a0001c0001t0042g0141 a0001c0001t0043g0137 a0001c0021t0032g0168 a0006c0005t0001g0154 a0006c0005t0006g0036 a0021c0019t0050g0160	35	308	0.1136	316	c.689 others(331): Show c.689+454_689+455insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCATATTGATTTTTT		PCNX4	ENSG00000126773.13	transcript	ENST00000406854.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
PDE4B_chr1_65787895_66379574	65934299	T T	TAAAATTA others(309): Show TAAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	118	0.0085	316	c.281 others(335): Show c.281+15472_281+15473insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAG		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE4D_chr5_58964038_59898726	59220803	C C	CCAAAGAC others(309): Show CCAAAGACATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02622.hp1 HG02723.hp2 others(8): Show HG01257.hp2 HG02622.hp1 HG02723.hp2 HG02965.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0002t0014 a0001c0004t0007	a0001c0001t0001g0016 a0001c0001t0002g0020 a0001c0001t0003g0045 others(8): Show a0001c0001t0001g0016 a0001c0001t0002g0020 a0001c0001t0003g0045 a0001c0001t0004g0073 a0001c0001t0005g0012 a0001c0001t0009g0013 a0001c0001t0011g0010 a0001c0001t0013g0009 a0001c0001t0022g0025 a0001c0002t0014g0026 a0001c0004t0007g0011	11	74	0.1487	316	c.456 others(333): Show c.456-4836_456-4835insCGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAGAATGTCTTTG		PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	1/14						chr5	TogoVar
PDE8B_chr5_77205680_77433256	77420370	T T	TAAAACCT others(309): Show TAAAACCTACTCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp2 NA18940.hp2 others(9): Show HG00544.hp2 HG02080.hp2 NA18940.hp2 NA18943.hp1 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18970.hp1 NA18990.hp2 NA19064.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031	a0001c0001t0002g0212 a0001c0001t0006g0047 a0001c0001t0006g0059 others(9): Show a0001c0001t0002g0212 a0001c0001t0006g0047 a0001c0001t0006g0059 a0001c0001t0006g0127 a0001c0001t0006g0208 a0001c0001t0006g0228 a0001c0001t0006g0283 a0001c0001t0006g0297 a0001c0001t0011g0223 a0001c0001t0017g0245 a0001c0001t0019g0182 a0001c0001t0031g0215	12	314	0.0382	316	c.225 others(333): Show c.2250+497_2250+498insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAACCTACTCATG		PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	19/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(309): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGA AAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	342	0.0029	316	c.20- others(331): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12						chr2	TogoVar
PHACTR4_chr1_28364740_28505364	28395818	A A	ATTTTTTT others(309): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTA CAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	228	0.0044	316	c.-38 others(335): Show c.-38-11568_-38-11567insTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTAC AGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCTGAATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr1	TogoVar

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