Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
GRTP1_chr13_113319163_113369130	113364444	A A	AGGAGGGG others(234): Show AGGAGGGGCAGGAGCGGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCG GGGGAGGGGCGGGGCTGGGGGCGGGGAGGACTTGGGGACAGAGGAGGGGC AGGAGCGGGGGAGGGGGAGGGGCAGGGGAGCACCCAGGGCGGGGGAGGGG CGGGGCTGGGGGCGGGAGGACCTGGGGAGAGAGGAGGGGCGGGGGAGGGG GAGGGGAGAGAGGAGAGGGTGGGGGCGGGGCGGGGAATGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 NA20300.hp2 HG01167.hp2 HG01169.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0179 a0001c0001t0001g0279 a0001c0001t0002g0149 a0001c0001t0001g0179 a0001c0001t0001g0279 a0001c0001t0002g0149	3	288	0.0104	241	c.-39 others(250): Show c.-394_-393insGCCCATTCCCCGCCCCGCCCCCACCCTCTCCTCTCT CCCCTCCCCCTCCCCCGCCCCTCCTCTCTCCCCAGGTCCTCCCGCCCCCA GCCCCGCCCCTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCC GCTCCTGCCCCTCCTCTGTCCCCAAGTCCTCCCCGCCCCCAGCCCCGCCC CTCCCCCGCCCTGGGTGCTCCCCTGCCCCTCCCCCTCCCCCGCTCCTGCC CCTCC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding					315		chr13	TogoVar
HTR1E_chr6_86932528_87021679	86996611	G G	GAATACTA others(234): Show GAATACTAAGGACAATTCTGTACATGTAAATATAACAACTTAAATGAAAT TGATCAATACCTCAAAAAGCGTGAACTATTACAATTCACCCAAACAGTTT AAATAGGCCTATAACTACTAAGAAAATTGTATTAATAATCTTAAAACTCC TGAAAAAGTAATCTCCAGGCCTAGATTGTTTCTCTAGAGAATTCTATCAA AAGATTAAAGAATTAACACCAGTTACACAATCTCTTGCAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	300	0.0033	241	c.-18 others(262): Show c.-185-18534_-185-18294dupCTAAGGACAATTCTGTACATGTAA ATATAACAACTTAAATGAAATTGATCAATACCTCAAAAAGCGTGAACTAT TACAATTCACCCAAACAGTTTAAATAGGCCTATAACTACTAAGAAAATTG TATTAATAATCTTAAAACTCCTGAAAAAGTAATCTCCAGGCCTAGATTGT TTCTCTAGAGAATTCTATCAAAAGATTAAAGAATTAACACCAGTTACACA ATCTCTTGCAGAAAATA		HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr6	TogoVar
IFNAR1_chr21_33319970_33364864	33322961	C C	CGTATGGA others(234): Show CGTATGGAATATATATATGGAATATATACGTATGGAATATATATATATGG AATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATAT ATATGGAATATATACGTATGGAATATATATATGGAATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0196 a0002c0002t0024g0196	1	323	0.0031	241	c.-20 others(252): Show c.-2095_-2094insGTATGGAATATATATATGGAATATATACGTATGG AATATATATATATGGAATATATACGTATGGAATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATA TATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATA TATATAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2008		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323520	G G	GTGGAATA others(234): Show GTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAAT ATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATGTGGAATATATATATATGG AATATATATGTGGAATATATATATATGGAATATATATGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0118 a0002c0002t0016g0118	1	323	0.0031	241	c.-15 others(252): Show c.-1536_-1535insTGGAATATATATATATGGAATATATATGTGGAAT ATATATATATGGAATATATATGTGGAATATATATATATGGAATATATATG TGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAATA TATATGTGGAATATATATATATGGAATATATATGTGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1449		chr21	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(234): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGAAATATATATATGATATATAT ATGAAATATATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01515.hp1 others(6): Show HG00140.hp1 HG01070.hp1 HG01515.hp1 HG01517.hp1 HG04184.hp1 NA18906.hp1 NA18979.hp1 NA19004.hp2 NA19005.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 others(6): Show a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0247 a0002c0002t0001g0267 a0002c0002t0001g0294 a0003c0003t0003g0307	9	344	0.0262	241	c.25- others(256): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATATGAAATATATATAT GATATATATAT		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNK2_chr1_215077737_215242090	215209562	A A	ATATATAA others(234): Show ATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATATAA AATATATAAAATAGATATTATATATAAAATATATATAATATATATATAAA ATAGATATTATATATAAAATATATATTATATATTATATAAAATATATATT ATATATTATATAATATATAATATATATTATATATATTATATATTATATAT TAAATATATATTATATATATATAATATATATTAAATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18947.hp2 NA18950.hp1 others(1): Show HG03654.hp1 NA18947.hp2 NA18950.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0030 a0001c0001t0005 a0001c0002t0030	a0001c0001t0005g0058 a0001c0001t0005g0083 a0001c0001t0005g0193 others(1): Show a0001c0001t0005g0058 a0001c0001t0005g0083 a0001c0001t0005g0193 a0001c0002t0030g0139	4	260	0.0154	241	c.963 others(260): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATATAATATATATTAA ATATATATTATATAA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(234): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGCAGGGAGGAGGGGGGCAG GTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGT GGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA GGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	270	0.0037	241	c.178 others(257): Show c.1785+99_1785+100insCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG CAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTG GGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCA GGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGG TGGCGGGGGAGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(234): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGAATCTGCAGAGATGGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	375	0.0027	241	c.-22 others(252): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTG CAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					462		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(234): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGG TCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	375	0.0027	241	c.-22 others(252): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTG CAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					462		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997407	G G	GGGGGCGG others(234): Show GGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGC GGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	375	0.0027	241	c.-20 others(252): Show c.-2062_-2061insGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATC TGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTG CAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					263		chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(234): Show AGGCGGGAACGGCGCTGCGGGGGGCGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0006g0022 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0006g0022	3	375	0.0080	241	c.317 others(258): Show c.317+1436_317+1437insCGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGG GAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACG GCGCTGCGGGGGG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87739065	C C	CCTCATCC others(234): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCC ACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAT CTCATCCACACACCAGCACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	380	0.0026	241	c.507 others(258): Show c.507-8422_507-8421insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGGTGGATGAG		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739140	C C	CCATCCAC others(234): Show CCATCCACACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCATCTCATCCACACACCAGCACCTCATC CATCCACACACCAGCATCTCATCCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	380	0.0026	241	c.507 others(258): Show c.507-8497_507-8496insGATGAGGTGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATG CTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTG TGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGA TGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGC TGGTGTGTGGATG		KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11						chr16	TogoVar
LMF1_chr16_848634_975984	850668	A A	ATTGGAAG others(234): Show ATTGGAAGGTACATGGCTGCGTGTGGGATGATTTCTCGGGTCATTCTCGT CGGAAGGAACCTGGCCGCGTGTGGGACGATTTCTCGGGTTGTTCTCATCG GATGGTACCTGGCCGCGTGGGGTACGATTTCTCGGGTTGTTCTCGTCGGA TGGTACCTGGCCGCGTGGGGTACGATTTCTCGGGTTGTTCTCCGTCGGAT GGTACCTGGCCACGTGTGGGACGATTTCTCAGGCCGTTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0089	1	294	0.0034	241	c.38 others(252): Show c.3863_*3864insCGAGAACGGCCTGAGAAATCGTCCCACACGTGGC CAGGTACCATCCGACGGAGAACAACCCGAGAAATCGTACCCCACGCGGCC AGGTACCATCCGACGAGAACAACCCGAGAAATCGTACCCCACGCGGCCAG GTACCATCCGATGAGAACAACCCGAGAAATCGTCCCACACGCGGCCAGGT TCCTTCCGACGAGAATGACCCGAGAAATCATCCCACACGCAGCCATGTAC CTTCCAA		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding					2965		chr16	TogoVar
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(234): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20129.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0218 a0001c0009t0001g0184 a0001c0001t0001g0218 a0001c0009t0001g0184	2	414	0.0048	241	c.171 others(258): Show c.1718+199_1718+200insGGGTGTGGAGCCCGGGGTGCAGGGGTAA GGCCGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACCGGCGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGGGGGGGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(234): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	414	0.0024	241	c.171 others(258): Show c.1718+199_1718+200insGGGTGTGGAGCCCGGGGTGCAGGGGTAA GGCCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACCGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACCGGCGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGGGGGGGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMF2_chr22_50497949_50512702	50504140	A A	ACCCCCCC others(234): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	414	0.0024	241	c.171 others(258): Show c.1718+199_1718+200insGGGGTGTGGAGCCCGGGGTGCAGGGGTA AGGCCGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACCGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACCGGCGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGGGGGGGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGGGG others(234): Show GAGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGACAGACAGAGACAGACAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	241	c.-41 others(252): Show c.-4154_-4153insAGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACAGAGACAGACAGAG ACAGACA		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					3968		chr11	TogoVar
LOC122319696_chrX_149409877_149420506	149418501	T T	TATATATA others(234): Show TATATATAATATATATTATATTATATATATATCATATATATAATATATAT TATATTATATATATATCATATATATAATATATATTATATTATATATATAT CATATATATAATATATATTATATTATATATATATCATATATATAATATAT ATTATATTATATATATATCATATATATAATATATATTATATTATATATAT ATCATATATATAATATATATTATATTATATATATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19090.hp2 NA19087.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	313	0.0064	241	c.-30 others(252): Show c.-3025_-3024insTATATTATATATATATAATATAATATATATTATA TATATGATATATATATAATATAATATATATTATATATATGATATATATAT AATATAATATATATTATATATATGATATATATATAATATAATATATATTA TATATATGATATATATATAATATAATATATATTATATATATGATATATAT ATAATATAATATATATTATATATATGATATATATATAATATAATATATAT TATATAT		LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding					2996		chrX	TogoVar
LPA_chr6_160526482_160669275	160669050	A A	ATGGTGAT others(234): Show ATGGTGATAGTGATGTTGATGGTAATGGTGGTGGTAATGATAGTGATAAT GGTGGTGGTAATGGTAATGACTATCATGATAATGGTGGTGATGGTGGTGA TGGTGATGATGGTGGTGATGGTGGTGGTGATGATAATGGTGATGGTGGTG CAATGCTGGTGATGATGGGGATGGTGATGATGGGGATGGTGATGATGAGG ATGGTAATGATAATGGTGATGGTGGTGGAATGATGATGACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(118): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18970.hp1 NA18970.hp2 NA18990.hp1 NA18990.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19065.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0025 a0026 a0027 a0028 a0029 a0030 a0032 a0033	a0001c0001 a0001c0009 a0001c0015 others(43): Show a0001c0001 a0001c0009 a0001c0015 a0001c0039 a0001c0047 a0002c0002 a0002c0013 a0002c0019 a0002c0020 a0002c0026 a0003c0003 a0003c0008 a0003c0018 a0003c0024 a0003c0032 a0003c0048 a0003c0050 a0004c0004 a0004c0034 a0004c0046 a0004c0051 a0005c0006 a0005c0007 a0006c0005 a0007c0012 a0008c0011 a0009c0010 a0010c0043 a0010c0044 a0011c0014 a0014c0031 a0017c0030 a0018c0029 a0019c0033 a0020c0035 a0021c0036 a0022c0037 a0023c0038 a0025c0025 a0026c0040 a0027c0017 a0028c0041 a0029c0016 a0030c0042 a0032c0052 a0033c0053	a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 a0001c0015t0001 a0001c0039t0001 a0001c0047t0002 a0002c0002t0001 a0002c0002t0002 a0002c0013t0002 a0002c0019t0002 a0002c0020t0002 a0002c0026t0002 a0003c0003t0001 a0003c0003t0002 a0003c0008t0001 a0003c0018t0001 a0003c0024t0002 a0003c0032t0001 a0003c0048t0002 a0003c0050t0001 a0004c0004t0001 a0004c0004t0002 a0004c0034t0005 a0004c0046t0002 a0004c0051t0001 a0005c0006t0001 a0005c0007t0001 a0005c0007t0003 a0006c0005t0002 a0007c0012t0001 a0008c0011t0002 a0009c0010t0002 a0010c0043t0001 a0010c0044t0001 a0011c0014t0001 a0014c0031t0004 a0017c0030t0002 a0018c0029t0002 a0019c0033t0001 a0020c0035t0002 a0021c0036t0001 a0022c0037t0002 a0023c0038t0001 a0025c0025t0002 a0026c0040t0002 a0027c0017t0001 a0028c0041t0001 a0029c0016t0001 a0030c0042t0001 a0032c0052t0001 a0033c0053t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(118): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0009t0002g0027 a0001c0009t0002g0028 a0001c0009t0002g0029 a0001c0015t0001g0101 a0001c0015t0001g0104 a0001c0039t0001g0062 a0001c0047t0002g0031 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0013t0002g0013 a0002c0013t0002g0046 a0002c0019t0002g0014 a0002c0020t0002g0015 a0002c0026t0002g0012 a0003c0003t0001g0055 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0078 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0090 a0003c0003t0002g0025 a0003c0008t0001g0053 a0003c0008t0001g0059 a0003c0008t0001g0061 a0003c0008t0001g0088 a0003c0018t0001g0081 a0003c0024t0002g0019 a0003c0032t0001g0069 a0003c0048t0002g0026 a0003c0050t0001g0056 a0004c0004t0001g0064 a0004c0004t0001g0067 a0004c0004t0001g0077 a0004c0004t0001g0079 a0004c0004t0001g0089 a0004c0004t0001g0109 a0004c0004t0001g0110 a0004c0004t0002g0032 a0004c0034t0005g0127 a0004c0046t0002g0038 a0004c0051t0001g0054 a0005c0006t0001g0092 a0005c0006t0001g0093 a0005c0006t0001g0094 a0005c0006t0001g0095 a0005c0007t0001g0096 a0005c0007t0001g0099 a0005c0007t0003g0129 a0006c0005t0002g0001 a0006c0005t0002g0002 a0006c0005t0002g0006 a0006c0005t0002g0007 a0006c0005t0002g0008 a0006c0005t0002g0010 a0007c0012t0001g0115 a0007c0012t0001g0117 a0007c0012t0001g0118 a0008c0011t0002g0041 a0009c0010t0002g0016 a0009c0010t0002g0017 a0009c0010t0002g0018 a0010c0043t0001g0108 a0010c0044t0001g0107 a0011c0014t0001g0114 a0011c0014t0001g0119 a0014c0031t0004g0044 a0017c0030t0002g0004 a0018c0029t0002g0003 a0019c0033t0001g0076 a0020c0035t0002g0022 a0021c0036t0001g0112 a0022c0037t0002g0042 a0023c0038t0001g0047 a0025c0025t0002g0045 a0026c0040t0002g0043 a0027c0017t0001g0116 a0028c0041t0001g0120 a0029c0016t0001g0060 a0030c0042t0001g0085 a0032c0052t0001g0113 a0033c0053t0001g0111	121	148	0.8176	241	c.-48 others(252): Show c.-4837_-4836insCTGTCATCATCATTCCACCACCATCACCATTATC ATTACCATCCTCATCATCACCATCCCCATCATCACCATCCCCATCATCAC CAGCATTGCACCACCATCACCATTATCATCACCACCACCATCACCACCAT CATCACCATCACCACCATCACCACCATTATCATGATAGTCATTACCATTA CCACCACCATTATCACTATCATTACCACCACCATTACCATCAACATCACT ATCACCA		LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding					4776		chr6	TogoVar
LUC7L_chr16_183990_234449	186255	G G	GGAGGAAC others(234): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	350	0.0029	241	c.29 others(252): Show c.2942_*2943insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCTC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2734		chr16	TogoVar
LUC7L_chr16_183990_234449	186683	A A	AACAGCGA others(234): Show AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGA GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACAC GGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGGACAGCGACA CGGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	350	0.0029	241	c.25 others(252): Show c.2514_*2515insCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGT CCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTG TCCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGT		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2306		chr16	TogoVar
MADCAM1_chr19_491486_510343	497053	A A	AGGGGACG others(234): Show AGGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCAGGAG AGAGGGAGGGGGCGCAGGAGAGTGGAGGGGGCGCGGGAGAGAGGAGGGGG CGCGGGAGAGGGGAGGGGGCTCGGGGGGAGAGGAAGGGGGCGCGGTGAGC GGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGGGCTCAGGAGAG GGGAGGGGGCTCAGTAGAGTGGAGGGGCTCAGGAGAGAGGAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0167 a0003c0002t0001g0167	1	364	0.0028	241	c.52+ others(254): Show c.52+505_52+506insGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAG GAGGGGCGCAGGAGAGAGGGAGGGGGCGCAGGAGAGTGGAGGGGGCGCGG GAGAGAGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGGAGAGGAAG GGGGCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAG GGGGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGAGGGGCTCAGGAGA GAGGAGGGG		MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(234): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATATA TGCATGTGATGCATATATATATGCATGTGATGCATATATATATGCATGTG ATGCATATATATATATGCATGTGATGCATATATATATGCATGTGATGCAT ATATATATATGCATGTGATGCATATATATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0029 a0002c0004t0029	a0002c0004t0029g0047 a0002c0004t0029g0047	1	102	0.0098	241	c.-38 others(260): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATGCATCACATGCATATAT ATATGCATCACATGCATATATATATATGCATCACATGCATATATATATGC ATCACATGCATATATATATATGCATCACATGCATATATATATATGCATCA CATGCATATATATAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9						chr4	TogoVar
MCPH1_chr8_6401627_6653508	6648942	G G	GAAGGACA others(234): Show GAAGGACAGAACAGGTGACTAAGGATGACTAAGGACAGAACAGGTGATTA AGGACAGAGCAAGTGACTAAGGTTGACTAAGGACAGAGCAGGTGACTAAG GATGACTAAGGACAGAACAGGTGACTAAGGATGACTAAGGACAGAACAGG TGATTAAGGACAGAGCAAGTGACTAAGGTTGACTAAGGACAGAGCAGGTG ACTAAGGATGACTAAGGACAGAACAGGTGACTAAGGATGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG02055.hp2 others(4): Show HG00140.hp1 HG00621.hp1 HG02055.hp2 HG03491.hp1 HG03688.hp2 NA19062.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0030 others(2): Show a0001c0001 a0002c0002 a0002c0030 a0002c0097 a0003c0003	a0001c0001t0001 a0001c0001t0037 a0002c0002t0014 others(4): Show a0001c0001t0001 a0001c0001t0037 a0002c0002t0014 a0002c0002t0038 a0002c0030t0014 a0002c0097t0014 a0003c0003t0003	a0001c0001t0001g0074 a0001c0001t0037g0168 a0002c0002t0014g0212 others(4): Show a0001c0001t0001g0074 a0001c0001t0037g0168 a0002c0002t0014g0212 a0002c0002t0038g0173 a0002c0030t0014g0131 a0002c0097t0014g0126 a0003c0003t0003g0186	7	262	0.0267	241	c.58 others(252): Show c.5893_*5894insAAGGACAGAACAGGTGACTAAGGATGACTAAGGA CAGAACAGGTGATTAAGGACAGAGCAAGTGACTAAGGTTGACTAAGGACA GAGCAGGTGACTAAGGATGACTAAGGACAGAACAGGTGACTAAGGATGAC TAAGGACAGAACAGGTGATTAAGGACAGAGCAAGTGACTAAGGTTGACTA AGGACAGAGCAGGTGACTAAGGATGACTAAGGACAGAACAGGTGACTAAG GATGACT		MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding					435		chr8	TogoVar
MELTF_chr3_196996740_197034817	197034373	G G	GACATGAG others(234): Show GACATGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCC AACTGGTTGGGGTTGTGAGCATCTGCAGTAGTGTGATGTCAGAGGATGTT ACTCTCTTGCTGACTGGTTACTGTGTGAGCACCTGCAGTAGTGTGATGTC AGAGGATGTTACGCTCTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTA GTGTGATGTCAGAGGATGTTACACTCTTGCTGACTGGTTACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0120 a0001c0001t0035g0120	1	420	0.0024	241	c.-46 others(252): Show c.-4672_-4671insAGTAACCAGTCAGCAAGAGTGTAACATCCTCTGA CATCACACTACTGCAGGTGCTCACACCCCAACCAGTCAGCAAGAGCGTAA CATCCTCTGACATCACACTACTGCAGGTGCTCACACAGTAACCAGTCAGC AAGAGAGTAACATCCTCTGACATCACACTACTGCAGATGCTCACAACCCC AACCAGTTGGCAAGAGTGTAACATCCTCTGACATCACACTACTGCAGGTG CTCATGT		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					4557		chr3	TogoVar
MGAT4C_chr12_85950667_86261391	86110254	A A	AATATATA others(234): Show AATATATATATAGACTATATATATATAGTCTATATATATAGTCTATATAT ATAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGTCT ATATATATAGTCTATATATATAGTCTATATATATATAGTCTATATATATA TAGACTATATATATATAGACTATATATATATAGACTATATATATAGTCTA TATATATATAGTCTATATATATATAGTCTATATATATAGACT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0083 a0001c0001t0111g0083	1	186	0.0054	241	c.-56 others(260): Show c.-56-60532_-56-60531insAGTCTATATATATAGACTATATATAT ATAGACTATATATATATAGACTATATATATAGTCTATATATATATAGTCT ATATATATATAGTCTATATATATATAGACTATATATATATAGACTATATA TATAGACTATATATATAGACTATATATATATAGACTATATATATAGACTA TATATATATAGACTATATATATAGACTATATATATAGACTATATATATAT AGTCTATATATATAT		MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4						chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110255	A A	ATATATAT others(234): Show ATATATATATAGACTATATATATATAGTCTATATATATAGTCTATATATA TAGTCTATATATATATAGTCTATATATATAGTCTATATATATATAGTCTA TATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATAT ATATAGTCTATATATATAGACTATATATATATAGACTATATATATAGTCT ATATATATATAGTCTATATATATATAGTCTATATATATAGAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02896.hp2 NA21309.hp2 HG02280.hp2 HG02896.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0116 a0001c0001t0122 a0001c0001t0115 a0001c0001t0116 a0001c0001t0122	a0001c0001t0115g0095 a0001c0001t0116g0097 a0001c0001t0122g0090 a0001c0001t0115g0095 a0001c0001t0116g0097 a0001c0001t0122g0090	3	186	0.0161	241	c.-56 others(260): Show c.-56-60533_-56-60532insGTCTATATATATAGACTATATATATA TAGACTATATATATATAGACTATATATATAGTCTATATATATATAGTCTA TATATATAGACTATATATATATAGACTATATATATATAGACTATATATAT ATAGACTATATATATATAGACTATATATATATAGACTATATATATAGACT ATATATATATAGACTATATATATAGACTATATATATAGACTATATATATA TAGTCTATATATATA		MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4						chr12	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(234): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	181	0.0055	241	c.107 others(260): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCT		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9						chrX	TogoVar
MMP26_chr11_4699784_4997429	4886717	C C	CAAAAGAC others(234): Show CAAAAGACTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01071.hp2 others(12): Show HG00140.hp2 HG00280.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp1 HG02273.hp2 HG02683.hp1 HG03239.hp1 HG03710.hp1 NA18942.hp1 NA18994.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0052 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0175	15	206	0.0728	241	c.-14 others(264): Show c.-144-101335_-144-101334insTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGAAAAGACTTTATTTTT		MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(234): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACG CGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGT GGAGGAGAAGGGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAG TGGAGCGAGGTGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGG TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp2 NA18951.hp2 HG02738.hp1 HG02738.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0068 a0001c0001t0001g0030 a0001c0001t0001g0068	3	395	0.0076	241	c.553 others(256): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCGCGCGTGACCC CACCTCGCTCCACTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTC CCCTTCTCCTCCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCT CCACCCTCCGCGCGTGACCCCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCC		MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6						chr11	TogoVar
MTHFD2_chr2_74193615_74222565	74203906	G G	GTTTAGTT others(234): Show GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTA GTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	414	0.0024	241	c.102 others(258): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTT		MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195779022	G G	GGACACTG others(234): Show GGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGG ATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGAT GCTGAGGAAGGGCTGGTGACATGAAGAGGGGGTGACGTGACCTGTAGATA CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGAT GAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTA	frameshift_variant frameshift_variant	HIGH	NA18977.hp2 NA18977.hp2	a0185 a0185	a0185c0029 a0185c0029	a0185c0029t0001 a0185c0029t0001	a0185c0029t0001g0155 a0185c0029t0001g0155	1	249	0.0040	241	c.125 others(252): Show c.12557_12558insTACAGGTCACGTCACCCCTCTTCATGTCACCAGC CCTTCCTCATCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCAC TTCCTCAGTATCTACAGGTCACGTCACCCCCTCTTCATGTCACCAGCCCT TCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTC CTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCT CAGTGTC	p.Asp others(6): Show p.Asp4189fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12669/16756	12557/16239	4186/5412			chr3	TogoVar
MYT1_chr20_64159452_64247253	64174651	G G	GTAGTTGT others(234): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCAACTTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	223	0.0045	241	c.-99 others(258): Show c.-99+9926_-99+9927insTCCCCTCCCTGGCTTCTCCTGTAGCATC TTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATC TTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTT CCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCC TGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCAACTTTCCT AGTTGTGTCCATT		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175477	C C	CCTCCTGC others(234): Show CCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0017 a0002c0008t0017	a0002c0008t0017g0131 a0002c0008t0017g0131	1	223	0.0045	241	c.-99 others(260): Show c.-99+10756_-99+10757insTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG CTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT CTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTC CTGCAGCATCTTTCC		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
NAGK_chr2_71063648_71084808	71081115	T T	TTTATTTT others(234): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTTGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	241	c.26 others(252): Show c.2607_*2608insTTATTTTATTTTATTTTATTTTATTTTATTTTAT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATG		NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding					1308		chr2	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(234): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA20129.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0003 a0001c0007t0003 a0001c0003t0003 a0001c0007t0003	a0001c0003t0003g0134 a0001c0007t0003g0148 a0001c0003t0003g0134 a0001c0007t0003g0148	2	384	0.0052	241	c.-41 others(252): Show c.-4198_-4197insCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCC CGGGCTCCACACCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCC		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4083		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(234): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0140 a0001c0003t0003g0140	1	384	0.0026	241	c.-41 others(252): Show c.-4198_-4197insCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCC CGGGCTCCACACCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACC CCGGGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCC		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4083		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504186	C C	CCCCCCCC others(234): Show CCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	384	0.0026	241	c.-41 others(252): Show c.-4152_-4151insCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTG CACCCCGGGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCC GGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACA		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4037		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504186	C C	CCCCCCCC others(234): Show CCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	384	0.0026	241	c.-41 others(252): Show c.-4152_-4151insCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTG CACCCCGGGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCC GGGCTCCACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACA		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					4037		chr22	TogoVar
NEU4_chr2_241804193_241822413	241805403	T T	TTCCCTCC others(234): Show TTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCGG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	319	0.0031	241	c.-38 others(252): Show c.-3875_-3874insTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCA ACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3789		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806338	A A	ACCCTCCC others(234): Show ACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT CCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	319	0.0031	241	c.-29 others(252): Show c.-2940_-2939insCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2854		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807931	T T	TCCCTCCC others(234): Show TCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGC CACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCTC CCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	319	0.0031	241	c.-13 others(252): Show c.-1347_-1346insCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCGGCAGGC CACCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTG CAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1261		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79494681	G G	GCGGGCAC others(234): Show GCGGGCACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGA CACACGCCCCCCATCGACCTGGTGCGGCCGGAGGAAGGCGAGAGCGGGCA CACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA20129.hp1 HG00323.hp2 NA20129.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0003 a0003c0007t0002 a0003c0007t0003	a0003c0007t0002g0021 a0003c0007t0003g0179 a0003c0007t0002g0021 a0003c0007t0003g0179	2	322	0.0062	241	c.278 others(260): Show c.2782+7762_2782+7763insCAACCTGGTGTGGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGA GCGGACACACGCCCCCCATCGACCTGGTGCGGCCGGAGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGG GCACACGCCCCCCAT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(234): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0085 a0001c0008t0004g0085	1	322	0.0031	241	c.46 others(252): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCC TGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2866		chr18	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(234): Show ACCACCCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCA CCCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCCACCCTC ACCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCA CCCTCACCCTCACCCCACCCTCACCCTCACCCCCACCCCACCCCCCACCC TCACCCTCACCCCCATCCTCACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	316	0.0032	241	c.133 others(262): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGGTGGGGTGGGGGTGAGGGTGAGG GTGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAG GGTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGG GTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGG GGGTGGTGGGGGGGTGG		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10						chr20	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(234): Show ACCACCCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCA CCCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCCACCCTC ACCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCA CCCTCACCCTCACCCCACCCTCACCCTCACCCCCACCCCCACCCCCACCC TCACCCTCACCCCCATCCTCACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0001 a0001c0001t0031g0001	1	316	0.0032	241	c.133 others(262): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGGTGGGGGTGAGGGTGAGG GTGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAG GGTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGG GTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGG GGGTGGTGGGGGGGTGG		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10						chr20	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(234): Show ACCACCCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCC ACCCCACCCTCACCCTCACCCCACCCCCACCCTCACCCCCACCCCACCCT CACCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCC ACCCTCACCCTCACCCCACCCTCACCCTCACCCCCACCCCACCCCCACCC TCACCCTCACCCCCATCCTCACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0114 a0001c0002t0003g0114	1	316	0.0032	241	c.133 others(262): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGG GTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGGG TGAGGGTGAGGGTGGGGTGGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGG GGGTGGTGGGGGGGTGG		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10						chr20	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(234): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATATATGTACAGTATGTATACCGT ATACAGCATGTATACTGTATATATGTACAGTATGTATACCGTATACAGTA TGTATACCGTATACATATACAGTATGTATACCGTATACAGTATGTATACC GTATATATACACAGTATGTATACCGTATATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0314 a0001c0002t0003g0314	1	362	0.0028	241	c.-75 others(260): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTATACGGTATACATACTGTAT ATGTATACGGTATACATACTGTATACGGTATACATACTGTACATATATAC AGTATACATGCTGTATACGGTATACATACTGTACATATATACAGTATACA TGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTA TACATGCTGTATACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NRCAM_chr7_108142649_108461436	108163931	G G	GGGGTAGT others(234): Show GGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATA CCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATG AGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGG TGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCAT ACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	208	0.0048	241	c.346 others(260): Show c.3466+2989_3466+2990insACCCCACCCGGTATGACCTCTCACTA CCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACT ACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACCCGGTAT GACCTCTCACTACCC		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar

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