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
NEDD4L_chr18_58039226_58406539	58282123	T T	TAAAAGTC others(311): Show TAAAAGTCAGGTTGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02809.hp1 others(6): Show HG02258.hp2 HG02559.hp1 HG02809.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03453.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0034 a0001c0001t0047	a0001c0001t0001g0084 a0001c0001t0007g0057 a0001c0001t0007g0093 others(6): Show a0001c0001t0001g0084 a0001c0001t0007g0057 a0001c0001t0007g0093 a0001c0001t0007g0104 a0001c0001t0013g0089 a0001c0001t0015g0032 a0001c0001t0017g0086 a0001c0001t0034g0023 a0001c0001t0047g0005	9	118	0.0763	318	c.297 others(337): Show c.297+30082_297+30083insCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTCAGGTTG		NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	5/30					INFO_REALIGN_3_PRIME	chr18	TogoVar
NEFM_chr8_24908761_24924093	24921587	T T	TAAGAACA others(311): Show TAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG01074.hp2 others(26): Show HG00099.hp1 HG00597.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01993.hp2 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp2 NA18612.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18970.hp1 NA18975.hp1 NA19005.hp2 NA19054.hp2 NA19060.hp1 NA19078.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0006c0007 a0001c0001 a0001c0006 a0006c0007	a0001c0001t0001 a0001c0006t0001 a0006c0007t0001 a0001c0001t0001 a0001c0006t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0006t0001g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0006t0001g0001 a0006c0007t0001g0001	29	430	0.0674	318	c.29 others(329): Show c.2981_*2982insAAGAACAGATTTTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGA GATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		NEFM	ENSG00000104722.14	transcript	ENST00000221166.10	protein_coding					2495		chr8	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(311): Show ATATATATATATATATACATAATATATATATACACACACACATATATATA CACATATATATTATATATACATATATAATATATTATATATACATATATAA TATATTATATATACATATATAATATATTATATATACATATATACATATAT ATTATATATACATATATAATATATTATATATACATATATAATATATTATA TATACATATATACATATATATTATATATACATATATACATATATTATATA TACATATATACATATATTATATATACATATATATACATATATATGTATGT GTGTGTATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA21309.hp1 HG01934.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0033 a0001c0001t0017g0059 a0001c0001t0002g0033 a0001c0001t0017g0059	2	64	0.0313	318	c.410 others(337): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATATGTATATATGTATATATAATA TATTATATATGTATATATAATATATTATATATGTATATATAATATATATG TATATATGTATATATAATATATTATATATGTATATATAATATATTATATA TGTATATATAATATATTATATATGTATATATAATATATATGTGTATATAT ATGTGTGTGTGTATATATATATTATGTATATATATATATATA		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6						chr1	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTA others(311): Show CATATGTATATATACACACATATGTGTATATACACATATGTATATATGTA TATATACACACATATGTGTATATACACATATGTATATATGTATATATACA CATATGTGTATATACACATATGTATATATGTATATATACACACATATGTG TATATACACATATGTATATATACACACATATGTGTATATACACATATGTA TATATGTATATATACACACATATGTGTATATACACATATGTATATATGTA TATATACACACATATGTGTATATACACATATGTATATATGTATATATACA CACATATGTATATACGTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp1 HG01884.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0041 a0001c0001t0013g0042 a0001c0001t0004g0041 a0001c0001t0013g0042	2	64	0.0313	318	c.409 others(335): Show c.409+6947_409+6948insATACGTATATACATATGTGTGTATATAT ACATATATACATATGTGTATATACACATATGTGTGTATATATACATATAT ACATATGTGTATATACACATATGTGTGTATATATACATATATACATATGT GTATATACACATATGTGTGTATATATACATATGTGTATATACACATATGT GTGTATATATACATATATACATATGTGTATATACACATATGTGTATATAT ACATATATACATATGTGTATATACACATATGTGTGTATATATACATATAT ACATATGTGTATATACACATATGTGTGTATATATACATAT		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6						chr1	TogoVar
NEGR1_chr1_71390943_72287539	72048423	T T	TTCTATCT others(311): Show TTCTATCTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTTCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACAGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02970.hp2 HG03516.hp1 others(1): Show HG01109.hp1 HG02970.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0008	a0001c0001t0002g0026 a0001c0001t0004g0029 a0001c0002t0001g0056 others(1): Show a0001c0001t0002g0026 a0001c0001t0004g0029 a0001c0002t0001g0056 a0001c0003t0008g0013	4	64	0.0625	318	c.177 others(339): Show c.177-113113_177-113112insGGCCGGGCGCTGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGAGGTGGTGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGAAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAAGATAGA		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6						chr1	TogoVar
NEGR1_chr1_71390943_72287539	72173322	T T	TAGCAATC others(311): Show TAGCAATCTTATTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	64	0.0156	318	c.176 others(339): Show c.176+108996_176+108997insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAATAAGATTGCT		NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6						chr1	TogoVar
NELL2_chr12_44503278_44881315	44670576	T T	TAAAGATA others(311): Show TAAAGATACACATAGACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02630.hp1 HG03225.hp2 others(3): Show HG01175.hp1 HG02630.hp1 HG03225.hp2 NA18906.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0002t0007 a0001c0001t0002 a0001c0001t0011 a0001c0002t0007	a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0011g0151 others(3): Show a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0002t0007g0019 a0001c0002t0007g0022	6	158	0.0380	318	c.131 others(337): Show c.1319-4968_1319-4967insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTAGTCTATGTGTATCTTT		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	12/19						chr12	TogoVar
NFILZ_chr19_8625633_8686151	8656288	A A	AGCGCACC others(311): Show AGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCC CTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCACCTT CTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACC TTCTCCACGCAGCCCATCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGC ACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTGCA GCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCC GCAGCCCACCTTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0230 a0001c0001t0046g0230	1	366	0.0027	318	c.-16 others(339): Show c.-163-18263_-163-18262insGCGCACCTCCTCCCTGAAGCCCAC CTCTTCCCTGAAGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGC CCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGA AACCCACCTCTTTCCGCAGCCCACCTTCTCCACGCAGCCCATCTTCTCTC TGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTT CCCTGAAGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACC TTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTG		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5						chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656288	A A	AGCGCACC others(311): Show AGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCC CTGCAGCCCACCTTCTCTCTGAAGCCTACCTTCTCCCTGAAGCCCACCTT CTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACC TTCTCCTCGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGC ACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCCTGCA GCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCC GCAGCCCACCTTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0246 a0003c0003t0010g0246	1	366	0.0027	318	c.-16 others(339): Show c.-163-18263_-163-18262insGCGCACCTCCTCCCTGAAGCCCAC CTCTTCCCTGAAGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGC CTACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGA AACCCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTCTCTC TGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTT CCCTGAAGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACC TTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTG		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5						chr19	TogoVar
NFRKB_chr11_129858636_129900578	129889647	T T	TAAAGAAG others(311): Show TAAAGAAGTGCTGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCAGTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp1 HG02630.hp2 others(5): Show HG01433.hp1 HG02622.hp1 HG02630.hp2 HG02922.hp1 NA18950.hp2 NA19000.hp2 NA19058.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0152 others(4): Show a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0003t0001g0033 a0001c0003t0001g0146 a0001c0003t0001g0154	8	410	0.0195	318	c.136 others(333): Show c.136-853_136-852insTTTTTTTTTTTTTTTTTTTTTTGAGACGGC GTCTCGCTCTGTCGCCCAGGCTGGAGTGCACTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTATCAGCACTTCTTT		NFRKB	ENSG00000170322.15	transcript	ENST00000682444.1	protein_coding	3/26						chr11	TogoVar
NIPBL_chr5_36871769_37071413	37069354	T T	TTCCTTGG others(311): Show TTCCTTGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0138 a0002c0003t0001g0138	1	328	0.0031	318	c.44 others(329): Show c.4462_*4463insTCCTTGGGTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC		NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding					2942		chr5	TogoVar
NLRP12_chr19_53788741_53829314	53797414	T T	TGCCCGGC others(311): Show TGCCCGGCCTGAATTATTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTTAGTAGAGACGGGGTTTTACCATTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0006 a0009c0028t0006	a0009c0028t0006g0230 a0009c0028t0006g0230	1	416	0.0024	318	c.292 others(335): Show c.2927+828_2927+829insGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTAAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAATAATAATTCAGGCCGGGC		NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	8/9						chr19	TogoVar
NME4_chr16_392199_405754	397740	G G	GGGGGTGT others(311): Show GGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGGTGAGGGAGTCGGGG GGGTGGGGGTGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGG GGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	356	0.0028	318	c.91+ others(331): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGGT GAGGGAGTCGGGGGGGTGGGGGTGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGGTGGGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPC2_chr14_74474940_74498305	74475441	T T	TGTATTTA others(311): Show TGTATTTAACATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA19003.hp2 NA18946.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0140 a0001c0001t0001g0004 a0001c0001t0001g0140	2	410	0.0049	318	c.48 others(329): Show c.4832_*4833insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAATGTTAAATAC		NPC2	ENSG00000119655.11	transcript	ENST00000555619.6	protein_coding					4498		chr14	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(311): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	384	0.0026	318	c.-6- others(335): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10						chr7	TogoVar
NRIP1_chr21_14956235_15070000	14980613	T T	TGATCAAT others(311): Show TGATCAATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0199 a0001c0004t0011g0199	1	398	0.0025	318	c.-33 others(339): Show c.-334-12088_-334-12087insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACATTGATC		NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	3/3						chr21	TogoVar
NRXN1_chr2_49913503_51037132	49949647	T T	TGAAAGTT others(311): Show TGAAAGTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA21309.hp1 HG02970.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0048 a0001c0001t0010 a0001c0002t0048	a0001c0001t0010g0025 a0001c0002t0048g0109 a0001c0001t0010g0025 a0001c0002t0048g0109	2	116	0.0172	318	c.412 others(337): Show c.4129-5857_4129-5856insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATAAACTTTC		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22						chr2	TogoVar
NSDHL_chrX_152826063_152874729	152833246	C C	CAAAAGTT others(311): Show CAAAAGTTATATGTGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATT AGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00673.hp1 others(35): Show HG00408.hp1 HG00423.hp2 HG00673.hp1 HG01099.hp1 HG01257.hp1 HG02015.hp1 HG02083.hp1 HG02257.hp1 HG02280.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp1 HG03195.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp1 NA18939.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18988.hp1 NA18992.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19057.hp1 NA19064.hp2 NA19081.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0020 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0188 a0001c0001t0002g0010 a0001c0001t0002g0041 a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0004g0046 a0001c0001t0008g0004 a0001c0002t0001g0072	38	324	0.1173	318	c.-44 others(335): Show c.-44+2144_-44+2145insGCCGGGCGCGGTGGCTCACGCTTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAA AAAATTAGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATGTGG		NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
NSMAF_chr8_58578508_58664853	58586439	T T	TAAAAAGG others(311): Show TAAAAAGGATAATATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02895.hp1 others(2): Show HG01884.hp2 HG02630.hp1 HG02895.hp1 HG03471.hp1 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0015 a0001c0004 a0005c0015	a0001c0004t0001 a0005c0015t0009 a0001c0004t0001 a0005c0015t0009	a0001c0004t0001g0116 a0001c0004t0001g0135 a0001c0004t0001g0202 others(2): Show a0001c0004t0001g0116 a0001c0004t0001g0135 a0001c0004t0001g0202 a0001c0004t0001g0210 a0005c0015t0009g0034	5	368	0.0136	318	c.244 others(333): Show c.2446+18_2446+19insTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGATATTATCCTTTTT		NSMAF	ENSG00000035681.9	transcript	ENST00000038176.8	protein_coding	28/30						chr8	TogoVar
NUBPL_chr14_31556404_31866224	31807284	T T	TTGTTTCC others(311): Show TTGTTTCCTGACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02145.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0003 a0001c0002t0002g0005	2	268	0.0075	318	c.608 others(337): Show c.608-19329_608-19328insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTGTTTCCTGACTTTTT		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AAGAAAGA others(311): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	296	0.0034	318	c.-18 others(327): Show c.-181_-180insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					146		chr13	TogoVar
ODAD3_chr19_11415605_11440121	11425022	C C	CCTATGCG others(311): Show CCTATGCGTATATATGTATATATGCGTATATATACCTATGCGTATATATG TATATATGCGTATATATACCTATGCGTATATATGTATATATGCGTATATA TACCTATGCGTATATATGTATATATGCGTATATATACCTATGCGTATATG TATATATGCGTATATATACCTATGCGTATATGTATATATGCGTATATATA CCTATGCGTATATGTATATATGCGTATATATACCTATGCGTATATATGTA TATATGCGTATATATACCTATGCGTATATATGTATATATGCGCATATATA CCTATGCGTATATATGTAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	398	0.0025	318	c.964 others(333): Show c.964-994_964-993insATACATATATACGCATAGGTATATATGCGC ATATATACATATATACGCATAGGTATATATACGCATATATACATATATAC GCATAGGTATATATACGCATATATACATATACGCATAGGTATATATACGC ATATATACATATACGCATAGGTATATATACGCATATATACATATACGCAT AGGTATATATACGCATATATACATATATACGCATAGGTATATATACGCAT ATATACATATATACGCATAGGTATATATACGCATATATACATATATACGC ATAGGTATATATACGCATATATACATATATACGCATAG		ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12						chr19	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(311): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	328	0.0031	318	c.-12 others(335): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(311): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGAAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	328	0.0031	318	c.-12 others(335): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGAAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(311): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01255.hp1 others(32): Show HG01106.hp1 HG01192.hp1 HG01255.hp1 HG01891.hp1 HG02027.hp2 HG02071.hp1 HG02132.hp2 HG02280.hp1 HG02300.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG03017.hp1 HG03516.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18944.hp1 NA18954.hp2 NA18985.hp2 NA18994.hp2 NA18995.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19088.hp1 NA20129.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0009	a0001c0001 a0001c0012 a0002c0002 others(4): Show a0001c0001 a0001c0012 a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0009c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0012t0002 a0002c0002t0001 a0004c0004t0003 a0005c0005t0003 a0005c0005t0021 a0006c0006t0025 a0009c0013t0002	a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0028 others(28): Show a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0028 a0001c0001t0002g0124 a0001c0001t0002g0189 a0001c0001t0002g0212 a0001c0001t0002g0221 a0001c0001t0002g0239 a0001c0001t0002g0251 a0001c0001t0002g0270 a0001c0001t0003g0007 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0244 a0001c0001t0008g0213 a0001c0001t0008g0276 a0001c0001t0009g0168 a0001c0001t0010g0236 a0001c0012t0002g0207 a0002c0002t0001g0007 a0002c0002t0001g0029 a0002c0002t0001g0091 a0004c0004t0003g0250 a0004c0004t0003g0260 a0004c0004t0003g0261 a0004c0004t0003g0273 a0005c0005t0003g0201 a0005c0005t0003g0202 a0005c0005t0021g0021 a0006c0006t0025g0231 a0009c0013t0002g0026	35	328	0.1067	318	c.-12 others(335): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(311): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	328	0.0031	318	c.-12 others(335): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3198013	G G	GGGAGAAG others(311): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0185 a0001c0001t0014g0185	1	328	0.0031	318	c.-12 others(335): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3198019	A A	AGGAGAGG others(311): Show AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp2 others(59): Show HG00099.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp2 HG01361.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18942.hp2 NA18950.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18985.hp1 NA18998.hp1 NA19004.hp2 NA19005.hp1 NA19054.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19077.hp1 NA20300.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0010 a0001c0001 a0002c0002 a0010c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0037 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0037 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 a0002c0002t0024 a0002c0002t0038 a0010c0010t0001	a0001c0001t0002g0093 a0001c0001t0003g0145 a0001c0001t0037g0154 others(52): Show a0001c0001t0002g0093 a0001c0001t0003g0145 a0001c0001t0037g0154 a0002c0002t0001g0011 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0024 a0002c0002t0001g0063 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0081 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0002g0011 a0002c0002t0004g0006 a0002c0002t0004g0014 a0002c0002t0004g0089 a0002c0002t0004g0096 a0002c0002t0004g0116 a0002c0002t0004g0138 a0002c0002t0004g0149 a0002c0002t0004g0161 a0002c0002t0012g0076 a0002c0002t0012g0111 a0002c0002t0024g0018 a0002c0002t0038g0084 a0010c0010t0001g0141	62	328	0.1890	318	c.-12 others(335): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR1F1_chr16_3183204_3211556	3198019	A A	AGGAGAGG others(311): Show AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18960.hp2 NA18959.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0034 a0002c0002t0001 a0002c0002t0034	a0002c0002t0001g0152 a0002c0002t0034g0130 a0002c0002t0001g0152 a0002c0002t0034g0130	2	328	0.0061	318	c.-12 others(335): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA		OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
OR2T1_chr1_248398048_248413020	248408254	C C	CGCATTTG others(311): Show CGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAG TTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCCCGG GAGTTGAGCTCGGGCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0093 a0001c0001t0009g0093	1	266	0.0038	318	c.11 others(329): Show c.1150_*1151insGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGC GGCAGATGGTCCCGGGAGTTGAGCTCGGGCTAGA		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					235		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408432	T T	TGGCAGAT others(311): Show TGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGA TAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGT AGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGAC TGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGCATTT GACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCA TTTGACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGA GCATTTGACTGCAGATAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA21309.hp2 HG03540.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	2	266	0.0075	318	c.13 others(329): Show c.1328_*1329insGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGA GCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCT AGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGG GCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCT CGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTA GCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGGTCACGGGAGT TTAGCTCGGGCTAGAGCATTTGACTGCAGATAGC		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					413		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408829	T T	TGGGCTAG others(311): Show TGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTA GCTTGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGT TTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGG AGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCAC GGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGT CACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGAT GGTCACGGGAGTTTAGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0150 a0005c0005t0010g0150	1	266	0.0038	318	c.17 others(329): Show c.1725_*1726insGGGCTAGAGCATTTGACTGTAGATAGTGGCAGAT GGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGCGGCA GATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCG GCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATA GCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAG ATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTG TAGATAGCGGCAGATGGTCACGGGAGTTTAGCTC		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					810		chr1	TogoVar
OR4P4_chr11_55630113_55645309	55641409	T T	TAGAAACT others(311): Show TAGAAACTCAGTGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03041.hp2 HG03486.hp2 HG02976.hp2 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0001 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0005 a0001c0001t0005g0007 a0001c0001t0014g0005 a0001c0001t0001g0005 a0001c0001t0005g0007 a0001c0001t0014g0005	3	224	0.0134	318	c.21 others(329): Show c.2113_*2114insAGAAACTCAGTGGAGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA		OR4P4	ENSG00000181927.4	transcript	ENST00000641760.1	protein_coding					1101		chr11	TogoVar
OR4P4_chr11_55630113_55645309	55641409	T T	TAGAAACT others(311): Show TAGAAACTCAGTGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG03453.hp2 HG02615.hp2 HG02717.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	3	224	0.0134	318	c.21 others(329): Show c.2113_*2114insAGAAACTCAGTGGAGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAA		OR4P4	ENSG00000181927.4	transcript	ENST00000641760.1	protein_coding					1101		chr11	TogoVar
OR4P4_chr11_55630113_55645309	55641411	G G	GAAACTCA others(311): Show GAAACTCAGTGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA20752.hp1 HG02602.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	224	0.0089	318	c.21 others(329): Show c.2115_*2116insAAACTCAGTGGAGGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA		OR4P4	ENSG00000181927.4	transcript	ENST00000641760.1	protein_coding					1103		chr11	TogoVar
ORC3_chr6_87585135_87672451	87617948	T T	TAAAAGAA others(311): Show TAAAAGAATAAAGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	378	0.0027	318	c.987 others(335): Show c.987+1535_987+1536insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTATAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATAAAGCA		ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding	9/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
OS9_chr12_57689132_57726557	57689476	C C	CAAAAAAC others(311): Show CAAAAAACATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG03492.hp1 HG03654.hp1 HG02683.hp1 HG03492.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0161 a0001c0002t0002g0025 a0001c0002t0002g0161	3	352	0.0085	318	c.-46 others(329): Show c.-4686_-4685insAAAAAACATTATAGTTTGGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA		OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding					4655		chr12	TogoVar
OSBPL8_chr12_76346797_76564771	76429263	T T	TAAAAAGT others(311): Show TAAAAAGTTCTTTATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATTCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAACGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp1 HG01978.hp1 HG01099.hp2 HG01256.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039	3	238	0.0126	318	c.218 others(337): Show c.218-18630_218-18629insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCGTTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGAATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTATAAAGAACTTTTT		OSBPL8	ENSG00000091039.17	transcript	ENST00000261183.8	protein_coding	4/23						chr12	TogoVar
OSBPL8_chr12_76346797_76564771	76429263	T T	TAAAAAGT others(311): Show TAAAAAGTTCTTTATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATTCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01069.hp1 others(31): Show HG00280.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01361.hp2 HG01433.hp1 HG01928.hp1 HG02080.hp2 HG02129.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG03139.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 NA18939.hp2 NA18941.hp2 NA18959.hp1 NA18968.hp2 NA18978.hp2 NA18980.hp1 NA18991.hp2 NA18992.hp2 NA19004.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19077.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0015 others(31): Show a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0044 a0001c0001t0017g0003	34	238	0.1429	318	c.218 others(337): Show c.218-18630_218-18629insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGAATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTATAAAGAACTTTTT		OSBPL8	ENSG00000091039.17	transcript	ENST00000261183.8	protein_coding	4/23						chr12	TogoVar
OSBPL8_chr12_76346797_76564771	76429263	T T	TAAAAAGT others(311): Show TAAAAAGTTCTTTATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02922.hp1 others(5): Show HG02451.hp1 HG02630.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp2 HG03579.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0013 a0001c0001t0004g0040 a0001c0001t0004g0041 others(5): Show a0001c0001t0004g0013 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0008g0232	8	238	0.0336	318	c.218 others(337): Show c.218-18630_218-18629insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGAGGTTTCACCTTGTTAGCCAGAATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTATAAAGAACTTTTT		OSBPL8	ENSG00000091039.17	transcript	ENST00000261183.8	protein_coding	4/23						chr12	TogoVar
OSGIN1_chr16_83948240_83971332	83950358	T T	TACATGCA others(311): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCACATACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01975.hp1 HG02135.hp1 others(10): Show HG00609.hp1 HG01975.hp1 HG02135.hp1 HG02273.hp1 HG04115.hp1 NA18959.hp1 NA18964.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA19056.hp1 NA19057.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0004g0046 a0001c0002t0001g0054 a0001c0002t0001g0123 a0001c0002t0004g0097	13	350	0.0371	318	c.-30 others(329): Show c.-3045_-3044insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACACGTACACACACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGA GCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACAT GAGCACATGTGCACACATGCACATACATACTGGC		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2881		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950683	A A	ACACGTAC others(311): Show ACACGTACACACACGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACACATGC ACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACAT GCCCATACACACTGGCACACACGTACACACACATGCACACATGAGCACAT GTGCACACATGCACATACACACTGGCACACACGTACACACACATGCACAC ATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACACAT GCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	318	c.-27 others(329): Show c.-2720_-2719insCACGTACACACACGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACACACATGCATACATGAGCA CATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAG CACATGTGCACACATGCCCATACACACTGGCACACACGTACACACACATG CACACATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTA CACACACATGCACACATGAGCACATGTGCACACATGCACATACATACCGG CACACGTACACACATGCACACATGAACACATGTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2556		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACGTAC others(311): Show ACACGTACACACACGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACACATGC ACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACAT GCCCATACACACTGGCACACACGTACACACACATGCACACATGAGCACAT GTGCACACATGCACATACACACTGGCACACACGTACACACACATGCACAC ATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACACAT GCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	350	0.0029	318	c.-25 others(329): Show c.-2546_-2545insCACGTACACACACGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACACACATGCATACATGAGCA CATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAG CACATGTGCACACATGCCCATACACACTGGCACACACGTACACACACATG CACACATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTA CACACACATGCACACATGAGCACATGTGCACACATGCACATACATACCGG CACACGTACACACATGCACACATGAACACATGTG		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2382		chr16	TogoVar
OTOF_chr2_26452203_26563756	26476710	C C	CCCCACCT others(311): Show CCCCACCTCCTTCCCCACCCCCTTCCCCCACCTCCTTCCCCACCCCCTTC CCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCC CACCCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACGTCCTTCCCC ACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCAC CCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCC CTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCCCT TCCCCCACCTCCTTCCCCA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0233 a0006c0008t0001g0233	1	284	0.0035	318	c.267 others(335): Show c.2676+180_2676+181insTGGGGAAGGAGGTGGGGGAAGGGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGG AAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAG GAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGA CGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGGTGGGGGAAGGG GTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGGGGT GGGGAAGGAGGTGGGGGAAGGGGGTGGGGAAGGAGGTGGG		OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46						chr2	TogoVar
OVCH2_chr11_7684437_7711477	7695672	T T	TAAGAATG others(311): Show TAAGAATGGATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG03225.hp2 HG03225.hp2	a0021 a0021	a0021c0027 a0021c0027	a0021c0027t0001 a0021c0027t0001	a0021c0027t0001g0074 a0021c0027t0001g0074	1	476	0.0021	318	c.117 others(327): Show c.1179_1180insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCATCCATTCTT	p.Leu others(331): Show p.Leu393_Ile394insPhePhePhePhePhePhePhePheTerAspGl yValSerLeuCysArgProGlyTrpSerAlaValAlaGlySerArgLeuT hrAlaSerSerAlaSerArgValHisAlaIleLeuLeuProGlnProPro LysTerLeuGlyLeuGlnAlaProAlaThrThrProGlyTerPhePheVa lPheLeuValGluThrGlyPheHisArgPheSerArgAspGlyLeuAspL euLeuThrSerTerSerAlaArgLeuGlyLeuProLysCysTrpAspTyr ArgArgGluProProArgProAlaSerSerIleLeu	OVCH2	ENSG00000183378.13	transcript	ENST00000533663.6	protein_coding	11/16	1262/1978	1179/1698	393/565			chr11	TogoVar
OXR1_chr8_106265190_106757694	106704117	A A	ACTTGGTA others(311): Show ACTTGGTAGACTAATCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCC CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	172	0.0058	318	c.860 others(335): Show c.860+1045_860+1046insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCCCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTTGGTAGACTAATCTTT		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
PACRG_chr6_162722974_163320500	162769334	T T	TAAAACCT others(311): Show TAAAACCTAACTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATT AGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(3): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG02004.hp1 HG02257.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(3): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0002g0029 a0001c0001t0002g0129 a0001c0001t0007g0125	6	130	0.0462	318	c.156 others(337): Show c.156+40956_156+40957insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACCTAACTTA		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66240777	T T	TTAATCTT others(311): Show TTAATCTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp1 HG02717.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0188 a0001c0001t0001g0190	2	322	0.0062	318	c.243 others(335): Show c.2430-636_2430-635insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTAATCTTGTTTTTT		PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr11	TogoVar
PACSIN3_chr11_47172522_47191434	47181261	C C	CAAAAAAA others(311): Show CAAAAAAAAAGAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	364	0.0028	318	c.212 others(333): Show c.212-572_212-571insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTTTTTCTTTTTTTTT		PACSIN3	ENSG00000165912.16	transcript	ENST00000298838.11	protein_coding	4/10						chr11	TogoVar
PARD3_chr10_34104561_34820296	34282095	T T	TAAAATAC others(311): Show TAAAATACAAGTGCCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp2 HG02970.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0091 a0001c0002t0009g0092 a0001c0002t0009g0091 a0001c0002t0009g0092	2	100	0.0200	318	c.317 others(337): Show c.3176+2039_3176+2040insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCTTGAGCCACCGCGCCCGGCCTGGCACTTGTATTTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	21/24						chr10	TogoVar

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