Joint Open Genome and Omics Platform (JoGo)

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view	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
	WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(492): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTC CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0308 a0003c0009t0003g0308	1	25	0.0400	499	c.483 others(514): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCC TTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTTCTTCC		WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27					INFO_REALIGN_3_PRIME	chr1	TogoVar
	ZDHHC20_chr13_21367571_21464303	21448229	C C	CGGGAGGG others(492): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCACCGGGCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG00741.hp1 others(11): Show HG00323.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01433.hp2 HG01884.hp2 HG02486.hp1 HG02738.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0001c0001t0035	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0018 others(11): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0007g0017 a0001c0001t0020g0014 a0001c0001t0035g0034	14	291	0.0481	499	c.118 others(518): Show c.118+10824_118+10825insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGCCCGGTGGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCATCTCCCTCCTGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG GCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACAGCACGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGG GGCTGACCCCCCACCTCCCTCCC		ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12						chr13	TogoVar
	ZDHHC20_chr13_21367571_21464303	21448229	C C	CGGGAGGG others(492): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCTGGCCAGCCACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCCCCCCGGGCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	278	0.0036	499	c.118 others(518): Show c.118+10824_118+10825insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGCCCGGGGGGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGTGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCATCTCCCTCCTGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG GCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACAGCACGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGG GGCTGACCCCCCACCTCCCTCCC		ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12						chr13	TogoVar
	ZDHHC20_chr13_21367571_21464303	21448229	C C	CGGGAGGG others(492): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCTGG GAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCACCGGGCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0007 a0004c0006t0003g0007	1	278	0.0036	499	c.118 others(518): Show c.118+10824_118+10825insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGCCCGGTGGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC AGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCATCTCCCTCCTGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG GCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACAGCACGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGG GGCTGACCCCCCACCTCCCTCCC		ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12						chr13	TogoVar
	ZNF365_chr10_62369369_62407450	62370951	A A	ATATGATA others(492): Show ATATGATATATATCATATATGTGATATATATCACATATGTGATATATATC ATATCACATATCATATGACATATCATATCACATATCACATATCACATATC ACATATCACATATCATATGATATATATCACATGTGATATATAGCATATGT GATATATATCATATATATCACATGTGATATATAGCATATGTGATATATAT CATATATATCACATGTGATATATAGCATATGTGATATATATCATATATAT CACATGTGATATATAGCATATGTGATATATATCATATATATCACATGTGA TATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCA TACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATA TGCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATA GCATATATATCACATGTGATATATAGCATATGTGATATATATGATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	176	0.0057	499	c.-35 others(510): Show c.-3521_-3520insTATGATATATATCATATATGTGATATATATCACA TATGTGATATATATCATATCACATATCATATGACATATCATATCACATAT CACATATCACATATCACATATCACATATCATATGATATATATCACATGTG ATATATAGCATATGTGATATATATCATATATATCACATGTGATATATAGC ATATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGAT ATATATCATATATATCACATGTGATATATAGCATATGTGATATATATCAT ATATATCACATGTGATATATAGCATATGTGATATATATCATATATATCAC ATATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGT ATAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATAT CACATGTGATATATAGCATATATATCACATGTGATATATAGCATATGTGA TATATATGATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3417		chr10	TogoVar
	ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(492): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATGTCATATATATCATATATATGATATATATCATAT ATCATATATATGATATATATCATATATCATATATATGATATATATCATAT ATCATATATATGATATATATCACATATATATATCATATATATCACATATA TATCATATATATCATATATATATCATATATATGATATATATCATATATAT ATCATATATATGATATATATCATATATATCACATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	223	0.0045	499	c.-34 others(510): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATGTCATATATATCATATATA TGATATATATCATATATCATATATATGATATATATCATATATCATATATA TGATATATATCATATATCATATATATGATATATATCACATATATATATCA TATATATCACATATATATCATATATATCATATATATATCATATATATGAT ATATATCATATATATATCATATATATGATATATATCATATATATCACATA TATATCATATATATG		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3390		chr10	TogoVar
	ZNF674_chrX_46492725_46550421	46497278	G G	GCCATTTA others(492): Show GCCATTTACCAATTAGTATATTCCTTGTGGGGAAAAGTAGCTTGGTCTAT TGGACTCGTCTCTCTTCACTCCTCTTGTCACCAGGATCTTTCCATTCAGG TCCCATTGTCTTAGCTCAGGGCTCCCTCAGGTACTATCAGCCAGCTGCAG TCTCTTGCTACATGGGCTTCTTCAATATGACTGCTTACTCATCAAACCAG CAAGGAAAATCTCTCCAGTCTGCTAAGAGTCTTATATAACATAATGTAGT CATGGGAGTGACATCCCATCACCTTTGCCCATAGTCTATTGGCTAGCAGC AGTCTCAGTTTGCCCACCTTCAGGGAAGGGATTATATAGGGCATTAATCA TTGGGGGTCATCTAGGGTTTCTGCCTTAACTGCTAACAGAAGGACAGGGA CAAGAGGGAGTACAAGCATTCAGCAGCACTCACAAATATCACAGTGAAAA GAGCTTTCTTCGGAAGTTCATTTTGTCTCATTACTTGAACACTTAAGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(42): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02129.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04204.hp1 NA18944.hp1 NA18948.hp1 NA18968.hp2 NA18991.hp2 NA18992.hp2 NA19003.hp2 NA19064.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0005c0006t0010	a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0010 others(33): Show a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0006g0012 a0001c0001t0006g0076 a0001c0001t0010g0066 a0005c0006t0010g0064	45	271	0.1661	499	c.25 others(510): Show c.2564_*2565insATGCTTAAGTGTTCAAGTAATGAGACAAAATGAA CTTCCGAAGAAAGCTCTTTTCACTGTGATATTTGTGAGTGCTGCTGAATG CTTGTACTCCCTCTTGTCCCTGTCCTTCTGTTAGCAGTTAAGGCAGAAAC CCTAGATGACCCCCAATGATTAATGCCCTATATAATCCCTTCCCTGAAGG TGGGCAAACTGAGACTGCTGCTAGCCAATAGACTATGGGCAAAGGTGATG GGATGTCACTCCCATGACTACATTATGTTATATAAGACTCTTAGCAGACT GGAGAGATTTTCCTTGCTGGTTTGATGAGTAAGCAGTCATATTGAAGAAG CCCATGTAGCAAGAGACTGCAGCTGGCTGATAGTACCTGAGGGAGCCCTG AGCTAAGACAATGGGACCTGAATGGAAAGATCCTGGTGACAAGAGGAGTG AAGAGAGACGAGTCCAATAGACCAAGCTACTTTTCCCCACAAGGAATATA CTAATTGGTAAATGG		ZNF674	ENSG00000251192.8	transcript	ENST00000683375.1	protein_coding					446		chrX	TogoVar