Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMEM120B_chr12_121707752_121787068	121747510	G G	GTCTGGGG others(645): Show GTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0220 a0002c0002t0007g0220	1	314	0.0032	652	c.189 others(667): Show c.189-816_189-815insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCTGGGGT others(645): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0216 a0002c0002t0038g0216	1	314	0.0032	652	c.189 others(667): Show c.189-782_189-781insTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474574	A A	AGTGAGGG others(645): Show AGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG TGGTGAGTGAGGGGGGTGAGGGGTGAGTAAGGAGGTGAGGGGGTGAGTGA GGGGGTGGGTGAGGGGTGGGTGAGGGGATGAGGGAGTGATTCAGAGGGTG AAGGGGTGAGTGAGGGAGTGAAGGCATGATTGAGGGGGTGAAGGGGTGAG TGAGGGGGTGACTGAGGGGTGAAGGGGGGAGTGAGGAGGAGAGTGAGGGG GTGAAGGCATGAGTGAGGGGGTGAATGGGTGAGAGACGGGGTGAGTGAGG GGTGAAGGGATGAATGAGGGGGTAAGTAAGGGGTTGAGGGGGTGAGGGGG TGAGTGAGGAGGTGAAGGGTGAGTGAGGGCGTGAGGGGGTGAGGGAGTGA GGGATTAGTGAGGGGGTGAGGGGTTGAGTGAGGAGGTGAGCAGGTGGGTG AGTGGATGAAGGGGTGAGTGAGGGGGTGAGGGGTGAATGAGGGGTTGAGT AGGGGGTGAGTGAGGAGGTGAGGTGGTGAGTGAGGGGGTGAAGGGTGAGT GAGGGGGTGAGGAGGTGAGTGAGGGGGTGACGGGGGTGGGGTGAGGGAGG GATGAGGGGGAGAGTGAGGAGGTGAGGAGGTGAGTGAGGGTTGAGGGAGT GAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0310 a0001c0008t0009g0310	1	382	0.0026	652	c.728 others(669): Show c.728-1079_728-1078insCTCACTCCCTCAACCCTCACTCACCTCC TCACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCCGTCACC CCCTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCTCACTCAC CACCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCTCAC CCCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACTC AACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCCT CACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTAC TTACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCA TTCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCCCC CCTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCAT GCCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATCC CCTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTACT CACCCCTCACCCCCCTCACTCACCACCTCACCCACCCCTCACCCACCCCC TCACTCACTCCCTCACCCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(645): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCC TCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCTCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTT CCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0100 a0002c0001t0001g0100	1	114	0.0088	652	c.-25 others(671): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCT CCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCTCCTCTCCC CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTC CTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(645): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCTCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCCTCCCCTCCCCTCCCCTTCCCCCCTCCCTTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCTCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTT CCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0002 a0019c0017t0002	a0019c0017t0002g0011 a0019c0017t0002g0011	1	114	0.0088	652	c.-25 others(671): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCTCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTCTCCCCT CTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCCTCCCCTCCCCTCCCCTTCCCCCCTCCCTTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCTCCTCTCCC CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTC CTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(645): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCTTCTTCCTCCTCC CCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCTGCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCCTCC TCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCTCCT CTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCTCCT GCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTCCTC CTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCTCT TTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTT CTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCT CCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCC TCCCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTC CTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCC TCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTC TCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02723.hp1 others(4): Show HG01884.hp2 HG02572.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012	a0001c0001t0001g0227 a0001c0001t0002g0162 a0001c0001t0006g0164 others(4): Show a0001c0001t0001g0227 a0001c0001t0002g0162 a0001c0001t0006g0164 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0012g0163	7	384	0.0182	652	c.424 others(669): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCTTC TTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCT CTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCT TTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCC TCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCC TCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCT TCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCT CCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCC TCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCT CCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCC TTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCC TCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCT CCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TOP1MT_chr8_143304324_143339880	143321659	C C	CGCACGCA others(645): Show CGCACGCACGCCACGCACGCACGCCACACACAGGTACGCCACACACGCAC ACCACAAACACAGGCACGCCACACACACGCACGCCACACGCACGCCACAC ACACACGCACGCTACACACACACGCACGCTACACACACACGCCACACACA CAGGCACGCCACACACACAGGCACGCCACACACGCACGCCACACACGCAT GCCACACACGCACGCCACACGCATGCCACACACAGCCACGCCACACACAC ACGCCACACACACACAGGCACGCCACACACGCACGCCACACACACGCATG CCACACACACGCCACACACACAGGCACGCCACACACACAGGCACGCCACA CACACGCCACACACACGCACGCCACACACGCACGCCACACACGCACGCCA CACACATGCACGCCACATACGCCCGCCACACACGCACGCCACACACGCAC GCCACACAGGCACCCCACACAAGCACGCCACACACACGCACGCCACACAC ACACGCACGCCACAAACGCACGCCACACACGCACGCCACACGCACGCCAG CCACACACGCCAGCCACACACGCACGCCAGCCACACGCACGCACACACGC ACGCCACACGCACGCCACACACGAACGCCACACAAACGCCACACACACGA ATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp1 NA19240.hp2 HG02723.hp1 HG03540.hp1 NA19240.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0041 a0004c0007t0001g0370 a0004c0007t0001g0041 a0004c0007t0001g0370	3	430	0.0070	652	c.961 others(667): Show c.961-274_961-273insCATTCGTGTGTGTGGCGTTTGTGTGGCGTT CGTGTGTGGCGTGCGTGTGGCGTGCGTGTGTGCGTGCGTGTGGCTGGCGT GCGTGTGTGGCTGGCGTGTGTGGCTGGCGTGCGTGTGGCGTGCGTGTGTG GCGTGCGTTTGTGGCGTGCGTGTGTGTGTGGCGTGCGTGTGTGTGGCGTG CTTGTGTGGGGTGCCTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCG GGCGTATGTGGCGTGCATGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGTGGCGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGC CTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTGGCGTGCGTGTGTG GCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTGTGTGTGGCA TGCGTGTGGCGTGCGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGTGGCG TGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGTAGCGTGC GTGTGTGTGTAGCGTGCGTGTGTGTGTGGCGTGCGTGTGGCGTGCGTGTG TGTGGCGTGCCTGTGTTTGTGGTGTGCGTGTGTGGCGTACCTGTGTGTGG CGTGCGTGCGTGGCGTGCGTGC	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273282	T T	TTATATAT others(645): Show TTATATATATAAAAATTATATATATATTATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	652	c.28 others(663): Show c.2847_*2848insTATATATATAAAAATTATATATATATTATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2169		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273369	A A	AAAATTAT others(645): Show AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATTATATA TATAAAAATTATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATTATATATATATAAAAATTATATATATAATATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATAAAAATTATAT ATATATTATATACATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATATAAATTATATATATATTATATATATA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	272	0.0037	652	c.29 others(663): Show c.2934_*2935insAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATTATATATATAAAAAT TATATATATTATATATATAAAAATTATATATATTATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATTATATATATATAAAAAT TATATATATAATATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATAAAAATTATATATATATTATATACATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATATAAATTATATA TATATTATATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2256		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273431	A A	ATATATAT others(645): Show ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TAAAAATTATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATTATATATATATAAAAATTATATATATTATATATATATA AAAATTATATATATATTATATATATAAAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATTA TATATATATAAAAATTATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTGTATATATATAAAAATTATATATATATTATATATATATAAA AAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	272	0.0037	652	c.29 others(663): Show c.2996_*2997insTATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATAAAAATTATATATATTATATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATTATATATATATAAAAATTATATA TATTATATATATATAAAAATTATATATATATTATATATATAAAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATTATATATATATAAAAATTATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTGTATATATATAAAAATTATATATATA TTATATATATATAAAAAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2318		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028788	G G	GTCCTGAA others(645): Show GTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTG AAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACA CCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACAC ACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACA CCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0090 a0003c0003t0001g0090	1	224	0.0045	652	c.225 others(671): Show c.2251+1641_2251+1642insTGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG TGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGT CTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAG GACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTG TGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028864	C C	CCCCCATC others(645): Show CCCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCA TCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACC GTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACAC ACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAA GACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAA AGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0033 a0009c0022t0001g0033	1	224	0.0045	652	c.225 others(671): Show c.2251+1565_2251+1566insTCTTTACGAGTGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGT CTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGG ACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTG TGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGGTCTTCAGGACGGTGTGATGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870357	A A	ACACACAC others(645): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCATACACACCACACACCCCCC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCCACACACACCACACCCCACA CACACCACACACCCCCACACACACCACACCCCCACACACACCACACACCC CCCACACACCACACCCCATACACACCACACACCACACCCCACACACACCA CACCCCCACACACACCACACCCCACACACACCACACACCCCCCACACACC ACACCCCACACACACCACACACCCCCCCACACACCACACACCATACACAC CACACCCCACACACACCACACCCCCCACACACCACACCCCACACACCACA CCCCACACACACCACACACCACACCCATACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCCCACACACCACA CCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	338	0.0030	652	c.35 others(671): Show c.35+21631_*35+21632insCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCATAC ACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCCACA CACACCACACCCCACACACACCACACACCCCCACACACACCACACCCCCA CACACACCACACACCCCCCACACACCACACCCCATACACACCACACACCA CACCCCACACACACCACACCCCCACACACACCACACCCCACACACACCAC ACACCCCCCACACACCACACCCCACACACACCACACACCCCCCCACACAC CACACACCATACACACCACACCCCACACACACCACACCCCCCACACACCA CACCCCACACACCACACCCCACACACACCACACACCACACCCATACACAC CACACCCCATACACACCACACCCCACACACACCACACCCCACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCCCACACACCACACCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870635	C C	CCACACAC others(645): Show CCACACACACCACACACCCCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACACC ACACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCCCACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCATACACACCACACACCCCCCACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCATACACACCACACACCCCCCACACA CCACACCCCATACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACC ACA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	338	0.0030	652	c.35 others(671): Show c.35+21903_*35+21904insACACACACCACACACCCCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCCCACACACCACACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCATACACACCACACACCCCCCA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCATA CACACCACACACCCCCCACACACCACACCCCATACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACACCCCCCA CACACCACACCCCATACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(645): Show TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCC CTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp1 HG01884.hp2 HG02055.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0109 a0001c0001t0001g0301 a0001c0001t0008g0108 a0001c0001t0001g0109 a0001c0001t0001g0301 a0001c0001t0008g0108	3	338	0.0089	652	c.246 others(671): Show c.246-36120_246-36119insTCCTCCCTCCCTCCCTCCCTTCTTTC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(645): Show TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCC CTC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	338	0.0030	652	c.246 others(671): Show c.246-36120_246-36119insTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGGTTCG others(645): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0046 a0001c0001t0021g0046	1	344	0.0029	652	c.218 others(669): Show c.2182+106_2182+107insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTG GGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(645): Show CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0230 a0001c0003t0003g0230	1	344	0.0029	652	c.218 others(669): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTG GGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(645): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTATATATTTAGTTTATAAGTACATATTTATATATT TAGTTTATAAGTACATATTTATATATTTAATTTATAAGTATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	250	0.0040	652	c.82+ others(667): Show c.82+5644_82+5645insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATA TTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATA TTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATA TTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAGTA CATATTTATATATTTAGTTTATAAGTACATATTTATATATTTAATTTATA AGTATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATTT ATATATTTAATTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(645): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGACAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTAT CGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	408	0.0025	652	c.53+ others(667): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGACAGACATATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATA GACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ZDHHC11B_chr5_705355_789729	783822	C C	CAGCCCCC others(645): Show CAGCCCCCAACCCTCATCAAAACAGCAGCCCTCAACCCCCATCAAAACAG CAGCCCTCAACCCCCATCAAAACAGCAGCCCCCTAAACCCCCATCAAAAC AGCAGCCCCCCAAACCCCCATCAAGACAACAGCCCCCCCAACCCGTATCA AAACAGCAGCCCCCAACCCCTCATCAAAACAGCAGCCCCCAGACCCCATC AAAACAGCAGCCCCCCAACCCCTATCAAAACAGCAGCCTCCCAACCCCTA TCAAAACAGCAGCCCCCAACCCCCTATCAAAACAGCAGCCCCCCTAAGCC CCCATCAAGACAGCAGCCTCCCAACCCCACATCAAAACAGCAGCCCCCCA GACCCCATCAAAACAGCAGCCCCCAACCACCTATCAAAACAGCAGCCCCC CAACCCCTATCAAAACAGCAGCCCCCCAACCCCCTATCAAAACAGTAGCC TCCCAACCACCTATCAAAACAGCAGCCTCCCAACCCCCTATCAAAACAGC AGCCCCAAACCCCTATCAAAACTGCAGCTCCCAACCCCCTATCAAAACAG CAGTCCCCCAACCCTATCAAAACAGCAGCCCTCCAACCCCCTATCAAAAC AGCAGCCCCCCAAACCCCTATCAAAACAGCAGCCCCCAACCCCGTATCAA AAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0017 a0001c0046t0017	a0001c0046t0017g0036 a0001c0046t0017g0036	1	271	0.0037	652	c.-23 others(669): Show c.-230+845_-230+846insATTTTGATACGGGGTTGGGGGCTGCTGT TTTGATAGGGGTTTGGGGGGCTGCTGTTTTGATAGGGGGTTGGAGGGCTG CTGTTTTGATAGGGTTGGGGGACTGCTGTTTTGATAGGGGGTTGGGAGCT GCAGTTTTGATAGGGGTTTGGGGCTGCTGTTTTGATAGGGGGTTGGGAGG CTGCTGTTTTGATAGGTGGTTGGGAGGCTACTGTTTTGATAGGGGGTTGG GGGGCTGCTGTTTTGATAGGGGTTGGGGGGCTGCTGTTTTGATAGGTGGT TGGGGGCTGCTGTTTTGATGGGGTCTGGGGGGCTGCTGTTTTGATGTGGG GTTGGGAGGCTGCTGTCTTGATGGGGGCTTAGGGGGGCTGCTGTTTTGAT AGGGGGTTGGGGGCTGCTGTTTTGATAGGGGTTGGGAGGCTGCTGTTTTG ATAGGGGTTGGGGGGCTGCTGTTTTGATGGGGTCTGGGGGCTGCTGTTTT GATGAGGGGTTGGGGGCTGCTGTTTTGATACGGGTTGGGGGGGCTGTTGT CTTGATGGGGGTTTGGGGGGCTGCTGTTTTGATGGGGGTTTAGGGGGCTG CTGTTTTGATGGGGGTTGAGGGCTGCTGTTTTGATGGGGGTTGAGGGCTG CTGTTTTGATGAGGGTTGGGGGCT	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	1/13			chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(646): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAGAGATGGGAGGG AGGGAAGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGG GAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGG AAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGG AGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0171 a0001c0021t0006g0171	1	228	0.0044	653	c.259 others(674): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCA TCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCC CTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTT CCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCCTCCTTTCCTTCCTTCCCTCCCTCCCATCTCTCCTTTCC TTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCT CCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(646): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	338	0.0030	653	c.300 others(670): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(646): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATTTATATATATATAATTATATATATATATAA AATTATATATATAATTATATATATTATATATAATTATATATATAATTTTA TATATATAATTATATATATTTATATATATATATATAATTATATATATATA TAAAATTATATATATAATTATATATATATTATATATAATTATATATATAT ATAATATATAATTTTATATATATAATTATATATATAATTTTATATATATA ATTTTATATATATAATTTTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	330	0.0030	653	c.907 others(668): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATTATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAAAATTATATATATAATT ATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(646): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATTTATATATATATAATTATATATATATATAA AATTATATATATAATTATATATATTATATATAATTATATATATAATTTTA TATATATAATTATATATATTTATATATATATATATAATTATATATATATA TAAAATTATATATATAATTATATATATATTATATATAATTATATATATAT ATTATATATAATTTTATATATATAATTATATATATAATTTTATATATATA ATTTTATATATATAATTTTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0080 a0002c0004t0001g0080	1	330	0.0030	653	c.907 others(668): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAAAATTATATATATAATT ATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(646): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATAAAATTATATATATAATTATATATATTATATA TAATTATATATATAATTTTATATATATAATTATATATATTTATATATATA TATATAATTATATATATATATATATAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATAAAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	330	0.0030	653	c.907 others(668): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATATAAAATTA TATATATAATTATATATATAAAATTATATATATAAAATTATATATATAAA ATTATATATATAAAATTATATATATAATTATATATATAAAATTATATATA ATATATATATATAATTATATATAATATATATATAATTATATATATAATTA TATATATATATATATAATTATATATATATATATAAATATATATAATTATA TATATAAAATTATATATATAATTATATATAATATATATAATTATATATAT AATTTTATATATATATAATTATATATATATAAATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAAAATTATATATATAATT ATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(646): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATATTA TATATAATTATATATATAATTTTATATATATAATTATATATATTTATATA TATATATATAATTATATATATATATAAAATTATATATATAATTATATATA TATTATATATAATTATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTATATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp2 HG02647.hp1 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0314 a0002c0002t0001g0008 a0002c0002t0001g0314	2	330	0.0061	653	c.907 others(668): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATATAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATATAAAATTA TATATATAATTATATATATAAAATTATATATATAAAATTATATATATAAA ATTATATATATAAAATTATATATATAATTATATATATAAAATTATATATA ATATATATATAATTATATATAATATATATATAATTATATATATAATTTTA TATATATATATAATTATATATATATATATAAATATATATAATTATATATA TAAAATTATATATATAATTATATATAATATATATATAATTATATATATAA TTTTATATATATATATAATTATATATATATAAATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAAAATTATATATATAATT ATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(646): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATATAATTATATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18954.hp1 NA18957.hp1 others(1): Show HG02074.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0216 a0001c0001t0001g0225	4	330	0.0121	653	c.907 others(668): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATATAAAATTA TATATATAATTATATATATAAAATTATATATATAAAATTATATATATAAA ATTATATATATAAAATTATATATATAATTATATATATAAAATTATATATA ATATATATATATAATTATATATAATATATATATAATTATATATATAATTT TATATATATATATAATTATATATATATATATAAATATATATAATTATATA TATAAAATTATATATATAATTATATATAATATATATAATTATATATATAA TTTTATATATATATATAATTATATATATATAAATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAAAATTATATATATAATT ATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(646): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATTTATATATATA TATATATAATTATATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTTTATATATATATAATTATATATATAATTATA TATATAATTTTATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA TAAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	330	0.0030	653	c.907 others(668): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATATAAAATTA TATATATAATTATATATATAAAATTATATATATAAAATTATATATATAAA ATTATATATATAAAATTATATATATAATTATATATATAAAATTATATATA ATATATATATATAATTATATATAATATATATATAATTATATATATAATTT TATATATATATATAATTATATATATATATATATAAATATATAATTATATA TATAAAATTATATATATAATTATATATAATATATATAATTATATATATAA TTTTATATATATATATAATTATATATATATAAATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAAAATTATATATATAATT ATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(646): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATAATTATATATATTATATAATT ATATATATAATTTTATATATATATAATTATATATACAATTTTATAATATA TATAATTATATATACAATTATATATATATATAATTATATATATATAATTG TATATATAATTTTATATATATAATTATATATAATTTTATATATATATAAT TATATATATAATTATATATATATAATTATATATATTTATATATATATATA ATTATATATATAATTTTATATATATAATTTTATATAATTTTATATATAAT TATATATATAATTTTATATATATAATTATATATATAATTTTATATATATA ATTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0171 a0003c0003t0001g0171	1	330	0.0030	653	c.907 others(668): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATAAAATTATATAAAATTA TATATATAAAATTATATATATAATTATATATATATATAAATATATATAAT TATATATATATAATTATATATATAATTATATATATATAAAATTATATATA ATTATATATATAAAATTATATATACAATTATATATATATAATTATATATA TATATAATTGTATATATAATTATATATATTATAAAATTGTATATATAATT ATATATATATAAAATTATATATATAATTATATAATATATATAATTATATA TATAAAATTATATAATATATATAATTATATATATATAAAATTATATATAT AATTATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAATTATATATATATAAAA TTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255379	A A	ATTATATA others(646): Show ATTATATATACAATTTTATATATATATAATTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATAATTA TATATATAATTTTATATATATATAATTATATATATAATTTTATATATATA TAATTTTATATATAATTATATATATAATTTTATATATAATTATATATATA ATTTTATATATAATTATATATATAATTTTATATATAATTATATATATAAT TTTATATATAATTATATATATAATTTTATATATATATAATTATATATATT ATATAATTTTATATATATAATTATATATATTATATAATTATATATATAAT TTTATATATATATAATTATATATACAATTTTATAATATATATAATTATAT ATACAATTATATATATATATAATTATATATATATAATTGTATATATAATT TTATATATATAATTATATATAATTTTATATATATATAATTATATATATAA TTATATATATATAATTATATATATTTATATATATATATAATTATATATAT AATTTTATATATATAATTTTATATAATTTTATATATAATTATATATATAA TTTTATATATATAATTTTATATATAATTATATATATAATTTTATATATAT AATT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0317 a0003c0003t0019g0317	1	330	0.0030	653	c.907 others(668): Show c.907+170_907+171insAATTATATATATAAAATTATATATATAATT ATATATAAAATTATATATATAAAATTATATATATAATTATATATAAAATT ATATAAAATTATATATATAAAATTATATATATAATTATATATATATATAA ATATATATAATTATATATATATAATTATATATATAATTATATATATATAA AATTATATATAATTATATATATAAAATTATATATACAATTATATATATAT AATTATATATATATATAATTGTATATATAATTATATATATTATAAAATTG TATATATAATTATATATATATAAAATTATATATATAATTATATAATATAT ATAATTATATATATAAAATTATATAATATATATAATTATATATATATAAA ATTATATATATAATTATATATAAAATTATATATATAATTATATATAAAAT TATATATATAATTATATATAAAATTATATATATAATTATATATAAAATTA TATATATAATTATATATAAAATTATATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATTATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATATAATTATA TATATATAAAATTGTATATATAA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(646): Show CTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTAT ACATACTATATATACACTATATATAGTAGTTATACATACACTATATAGTA GTTATATATACTACATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAG TTATATATACTATATATACACTATATATAGTAGTTATATATACTATATAT ACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGTTA TATATACTACTATATATACTACTATATATAGTATATACTATATATACACT ATATATAGTAGTTATATATACACTATATATAGTAGTTATATATACTACTA TATATACAACTATATATAGTATATACTATATATACACTATATATAGCATA TATACTATATATACACTATATATAGTAGTTATATATACTATATATACACT ATACATACACTATATATAGTTTATATATACTATATATAGTAGTTATATAT ACTATATATACTATATATAGTAGTTATATATACTATATATACTATATATA GTAGTTATATATACTATATATACTATATATAGTTTATATATATACTATAT ATAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	396	0.0025	653	c.349 others(668): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACTATATATACACTATATATAGTAGTTATACATACACTATATAG TAGTTATATATACTACATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTTATATATACACTATATATAGTAGTTATATATACTAC TATATATACAACTATATATAGTATATACTATATATACACTATATATAGCA TATATACTATATATACACTATATATAGTAGTTATATATACTATATATACA CTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTATAT ATACTATATATACTATATATAGTAGTTATATATACTATATATACTATATA TAGTAGTTATATATACTATATATACTATATATAGTTTATATATATACTAT ATATAGTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(646): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTTATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTT ATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTT TATT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	402	0.0025	653	c.80- others(668): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTTATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTTATTT TATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTA AAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTATT TATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CMIP_chr16_81439808_81716762	81704601	C C	CCCCCCAC others(646): Show CCCCCCACCCACTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCC CCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCACCCTC CTCCCTGCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTC CCCTCACCCTCCTCCCTGTCCCCTCACCCTCCTCCCTCACCCTCCCCCTC CTCCCTCACCCTCCCCCTCCTCCCTCCCCCGTCCCTCCTCCCTCCCCCTC ACCCTTCTCCCTGCCCCCTCACCCCCCTCCCTGCCCCTCACCCTCCTCCC TGCCCCCTCACCCTCCTCCCTGCCCCTTCATCCTCCTCCCTGCCCCTTCA CCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGCTCCCTCACCCTCCTCA GTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCT CTTTCCCCTCACCTTCCTCCCTGCCCCTTCACCCTCCTCCCTGCCCACTC ACCCTCCTCCCTGCCCCCGCACCTTCTTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACTCTCCTCCCTAACTTGTTCACCCTCCTCCCTACCCCTT CATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0008 a0001c0001t0037g0008	1	268	0.0037	653	c.209 others(670): Show c.2091+517_2091+518insCCCCACCCACTCACCCTCCTCCCTGCCC CCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCT CCTCCCTGCCCCCCACCCTCCTCCCTGCCCCCTTACTCTCCTCCCTGCCC CTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCCCTGTCCCCTCACCCT CCTCCCTCACCCTCCCCCTCCTCCCTCACCCTCCCCCTCCTCCCTCCCCC GTCCCTCCTCCCTCCCCCTCACCCTTCTCCCTGCCCCCTCACCCCCCTCC CTGCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCTTCA TCCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCCTCCTCC CTGCTCCCTCACCCTCCTCAGTGCCCCCTCACCCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCTTCCTCCCTGCCCCTTC ACCCTCCTCCCTGCCCACTCACCCTCCTCCCTGCCCCCGCACCTTCTTCC CTGCCCCCTCACCCTCCTCCCTGCCCCCTCACTCTCCTCCCTAACTTGTT CACCCTCCTCCCTACCCCTTCATTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647332	A A	ACCCCTTC others(646): Show ACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCCTC CTCCACACTCTTACCCCTCCACACCCCTCCTCTTCCACCAGACCCCTCCT CCACACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCTCAAC CTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCC CTCATCACCTCTCCTCCTCCTCCACACCCATCATCCTCCACGCCCCTTCT CCTCACTCCTCCTCCTCCTGCACACCCCTTCTCCTCCTCACCCTTTGTCC TACTCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTC CTCCATACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCC GTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCT CCTGCTCCACATCCCTCCCCCTCCACCCCCTCCACACCCCTCCTCTGCCT CATGCCTCTTCCTCACCCCTCCTCCTCCACACCCCTCATCCTCCTCCACA CCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCCCTCCTCCTCACCCCT TCTCCTCTCCACATCCCTCCTGCTCCACATCCCTCCTGCTTCACACCCCT CCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	276	0.0036	653	c.51 others(664): Show c.5192_*5193insCCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCC ACACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTTC CACCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTTC ACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCT CCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCATCATC CTCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGCACACCCCTTCTCCT CCTCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCT TCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTCCAC ACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTC CTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCACCCCCTCCAC ACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCCC TCATCCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACCC CTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCTC CTGCTTCACACCCCTCCCC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1988		chr15	TogoVar
CSMD1_chr8_2930361_4999914	2986081	G G	GACGGAGG others(646): Show GACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GAGAGGGAGGGAGAAAACTCTCCATGAAAGAAGGGAGGAAGGGAGGGAGG GAGAGAGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAGAAAACTTTCTC CATATTTTGCTATTTTTTAAAAACTGAAACCCTGTTTAAGTTTCTTTTTG GTGTTCATTCCTTTTCCTGCTTTCTTAGTTTATTTTAAAGTGTATTAAAA ACTTGATCATGAACAGAAAAAAACTAAACAAGAAACTATGCTTTGTAATG TAAAAATAGCCAAGTAAATTCTTGGGCAGTCAGGAAAAGGCATAAAAATT AGTTCAATACATTTTTAAAAAGCACTCATAAAAATTTTTTTGTAATATGA TTATGTAATAATATGATTTTTTACAACTTTTCAATAGAATAAATTACAGA AAGTTTAGAGTATAAAAATACAGCTAACTATGCAATAGTCAGTATATTGC ATACAATACATATTTCTGGATTTGTTCACTAACTGAATGAACCAAAATTA AATTAAACAAGATTGCTGGCCACAGGGAAAACACAGTAACAACAACTAAA AAAATGACTATTTTCAAATATGTGAAAGTTACATATTTTTATCTTTTATC AATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0041 a0002c0074t0041	a0002c0074t0041g0031 a0002c0074t0041g0031	1	126	0.0079	653	c.837 others(672): Show c.8378-7282_8378-7281insTATTGATAAAAGATAAAAATATGTAA CTTTCACATATTTGAAAATAGTCATTTTTTTAGTTGTTGTTACTGTGTTT TCCCTGTGGCCAGCAATCTTGTTTAATTTAATTTTGGTTCATTCAGTTAG TGAACAAATCCAGAAATATGTATTGTATGCAATATACTGACTATTGCATA GTTAGCTGTATTTTTATACTCTAAACTTTCTGTAATTTATTCTATTGAAA AGTTGTAAAAAATCATATTATTACATAATCATATTACAAAAAAATTTTTA TGAGTGCTTTTTAAAAATGTATTGAACTAATTTTTATGCCTTTTCCTGAC TGCCCAAGAATTTACTTGGCTATTTTTACATTACAAAGCATAGTTTCTTG TTTAGTTTTTTTCTGTTCATGATCAAGTTTTTAATACACTTTAAAATAAA CTAAGAAAGCAGGAAAAGGAATGAACACCAAAAAGAAACTTAAACAGGGT TTCAGTTTTTAAAAAATAGCAAAATATGGAGAAAGTTTTCTCCTTCCCTC CCTTCCTTCCTTCCTTCCTTCCTCTCTCCCTCCCTCCCTTCCTCCCTTCT TTCATGGAGAGTTTTCTCCCTCCCTCTCTCCCTCCGTCCCTCCCTCCCTC CCTCCGTCCCTCCCTCCCTCCCTCCGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2986081	G G	GACGGAGG others(646): Show GACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGAGGGAGAAAACTCTCCATGAAAGAAGGGAGGAAGGGAGGGAGG GAGAGAGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAGAAAACTTTCTC CATATTTTGCTATTTTTTAAAAACTGAAACCCTGTTTAAGTTTCTTTTTG GTGTTCATTCCTTTTCCTGCTTTCTTAGTTTATTTTAAAGTGTATTAAAA ACTTGATCATGAACAGAAAAAAACTAAACAAGAAACTATGCTTTGTAATG TAAAAATAGCCAAGTAAATTCTTGGGCAGTCAGGAAAAGGCATAAAAATT AGTTCAATACATTTTTAAAAAGCACTCATAAAAATTTTTTTGTAATATGA TTATGTAATAATATGATTTTTTACAACTTTTCAATAGAATAAATTACAGA AAGTTTAGAGTATAAAAATACAGCTAACTATGCAATAGTCAGTATATTGC ATACAATACATATTTCTGGATTTGTTCACTAACTGAATGAACCAAAATTA AATTAAACAAGATTGCTGGCCACAGGGAAAACACAGTAACAACAACTAAA AAAATGACTATTTTCAAATATGTGAAAGTTACATATTTTTATCTTTTATC AATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0030 a0004c0034t0030	a0004c0034t0030g0038 a0004c0034t0030g0038	1	126	0.0079	653	c.837 others(672): Show c.8378-7282_8378-7281insTATTGATAAAAGATAAAAATATGTAA CTTTCACATATTTGAAAATAGTCATTTTTTTAGTTGTTGTTACTGTGTTT TCCCTGTGGCCAGCAATCTTGTTTAATTTAATTTTGGTTCATTCAGTTAG TGAACAAATCCAGAAATATGTATTGTATGCAATATACTGACTATTGCATA GTTAGCTGTATTTTTATACTCTAAACTTTCTGTAATTTATTCTATTGAAA AGTTGTAAAAAATCATATTATTACATAATCATATTACAAAAAAATTTTTA TGAGTGCTTTTTAAAAATGTATTGAACTAATTTTTATGCCTTTTCCTGAC TGCCCAAGAATTTACTTGGCTATTTTTACATTACAAAGCATAGTTTCTTG TTTAGTTTTTTTCTGTTCATGATCAAGTTTTTAATACACTTTAAAATAAA CTAAGAAAGCAGGAAAAGGAATGAACACCAAAAAGAAACTTAAACAGGGT TTCAGTTTTTAAAAAATAGCAAAATATGGAGAAAGTTTTCTCCTTCCCTC CCTTCCTTCCTTCCTTCCTTCCTCTCTCCCTCCCTCCCTTCCTCCCTTCT TTCATGGAGAGTTTTCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTC CCTCCGTCCCTCCCTCCCTCCCTCCGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAT others(646): Show GCTATAATCACCACCACCACCACCACCACTATAACCATCACCACCATCAC CACTATAACCACCACCACCACCACCACCATTATAACCATCACCACCACCA CTATAACCACCATCATCACCACCACCACTACCACTACTATAACCATCACC ACCATCACCACTATAACCACCACCACCACCACCACCACCACTATAATCAT TACCACTATAACCACCACTACCACCACCACCACCATTATAACCATCACCA CCACCACTATAACCACCATCATCACCACCACCACTACCACTACTATAACC ATTACCACCATTACTGCTATAACCACCACCACCACCACCACCACCACTAT AATCATTACCACTATAACCACCACTACCACCACTACCACTATGATAACCA TCACCAACACCACTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAG TCATAAACACAGGACCAACCAGGGATAGGACCAACCAGGACCAACCAGGA CCAACACCACCACCACTACTACCACTACTATAACCATCACCACCATCACT GCTATAATCACCACCACCACCACCATCACTATAATCATCACCATCATCAC CACTATAACCACCACCACCACCACCACCACCAGTTATAACCATCACCACC ACTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0176 a0001c0004t0009g0176	1	230	0.0044	653	c.724 others(672): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGCAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGGTGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGT GGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGG TGGTGGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTAGTGGTA GTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAAT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAG TGGTGGTGGTGGTGGTGGTGATTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DGKD_chr2_233349494_233477098	233397028	C C	CAGAGTGA others(646): Show CAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAG TGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGA GGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACA CCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCA GAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGAGTGAGAGGACACC AGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGACTCCAGA GGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGACTCCAG AGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGG ACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAG GGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGG CTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTG GGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCT GCGGGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGC AGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	336	0.0030	653	c.348 others(670): Show c.348+6545_348+6546insAGAGTGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGG CTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGC AGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGG GGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGG GTGTCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGG CCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGT GCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAG AGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGA CACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTC CAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGACA CCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGACTCCA GAGGGGACCAGGGTGGCTGGCAGAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DIP2C_chr10_269201_694668	322208	T T	TCGGGGGT others(646): Show TCGGGGGTGCGGGGGTCCGGCGAGAGGCCAGTGTTGTTAGAACAGTCAGT CGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTC GGGGGTGCGGGGGTCCGGCGAGAGGCCAGTGTTGTTAGAACAGTCAGTCG GGGGTGCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAG TCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGT CAGTCGGGGGTGCGGGGCTCCGGCGAGAGGCCAGTGTTGTTAGAACAGTC AGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCA GTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAG TCGGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGTTGTTAGAACAGTCAGT CGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTC GGGGGTGCGGGGGTCCGGCGAGAGGCCAGTGTTGTTAGAACAGTCAGTCG GGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGG GGGTGCGGGGGTCCGGCGAGAGGCCAGTGTTGTTAGAACAGTCAGTCGGG GGTG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0084 a0001c0005t0001g0084	1	88	0.0114	653	c.392 others(672): Show c.3924+4797_3924+4798insCACCCCCGACTGACTGTTCTAACAAC ACTGGCCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAACAC TGGCCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAACGCC GGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGCCG GCCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACACTGG TCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGT CTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGCC TCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCT CTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTC TCGCCGGAGCCCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAACAC TGGCCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCC GGTCTCTCGCCGGACCCCCGCACCCCCGACTGACTGTTCTAACAACACTG GCCTCTCGCCGGACCCCCGCACCCCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(646): Show TAATTATATATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATAATATATAATATATTATATATTATATATATTATATAAAATA TAATATATTATATATAATTATATATTATATATTATATATAATATATAATT ATATGTTATATATTATATATATTATATATTATATATATATTATATATATA ATATATATTATATATTAAATTATATATAATATATATTATATATATAATTT ATATATATAAAATATATTATATATTATATAAATATATATATTTTATATAT ATAAAATATATATTTTATAATATATAATATAGAAATGTATATTATATAAT ATATAATTATATATAATTATATATTATATAATATATATTTCTATATTATA TATTTATAATGTATAATATATAAATATATTATAAATATATATTATATACT ATATAATGCATTATAAATATATTATATTTATATATTATAAATATATTACA TATTTATATATTATATATATAATATATATATTATATATTATAAATATATT TTATAAAATATAATATATATATTATATATTATATATTATAAATATATTTT ATAAAATATAATATATATATTATATATTATATTTTATAAAATATAATAAT AATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03704.hp2 HG02738.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0022 a0001c0002t0009 a0001c0002t0022	a0001c0002t0009g0003 a0001c0002t0022g0069 a0001c0002t0009g0003 a0001c0002t0022g0069	2	220	0.0091	653	c.551 others(672): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATATATAATATATATATTATATTTTATAAAATATATTTATAATATATAA TATATAATATATATATTATATTTTATAAAATATATTTATAATATATAATA TATATATTATATATATAATATATAAATATGTAATATATTTATAATATATA AATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATAA TATATTTATATATTATACATTATAAATATATAATATAGAAATATATATTA TATAATATATAATTATATATAATTATATATTATATAATATACATTTCTAT ATTATATATTATAAAATATATATTTTATATATATAAAATATATATATTTA TATAATATATAATATATTTTATATATATAAATTATATATATAATATATAT TATATATAATTTAATATATAATATATATTATATATATAATATATATATAA TATATAATATATATAATATATAACATATAATTATATATTATATATAATAT ATAATATATAATTATATATAATATATTATATTTTATATAATATATATAAT ATATAATATATTATATATTATATATAATTATATATTATATATAATATATA ATTATATATTATATATAATATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
FBN2_chr5_128252909_128543245	128540035	T T	TATATCAT others(646): Show TATATCATATATATCATATATATCATATATCATATATCAATCATATATAT CATATATCATATATATCATATATATCATATATCATATATATCATATATAT CATATATCATATATCATATATATCATATATATCATATATCATATATCAAT CATATATATTATATATCATATATATTATATATCATATATATCATATATCA TATATATCATATATATCATATATCATATATATCATATATATCATATATCA TATATATCATATATATCATATATCATATATCATATATATCATATATCATA TATATCATATATATCATATATCATATATATCATATATATCATATATCATA TATATCATATATATCATATATCATATATATCATATATATCATATATCATA TATATCATATATATCATATATCATATATATCATATATATCATATATCATT ATCATATATCATATATATCATATATCATATATCATATATATCATATATCA ATCATATATATCATATATCATATATCATATATATCATATATCATATATCA TATATATCATATATCATATATCATATATATCATATATATCATATATATCA TATATATCATATATCATATATCATATATCATATATATCATATATATCATA TATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03209.hp1 HG02647.hp2 HG03209.hp1	a0001 a0001	a0001c0008 a0001c0030 a0001c0008 a0001c0030	a0001c0008t0025 a0001c0030t0026 a0001c0008t0025 a0001c0030t0026	a0001c0008t0025g0115 a0001c0030t0026g0116 a0001c0008t0025g0115 a0001c0030t0026g0116	2	236	0.0085	653	c.-24 others(664): Show c.-2433_-2432insGATATATGATATATATGATATATATGATATATGA TATATGATATATGATATATATGATATATATGATATATATGATATATATGA TATATGATATATGATATATATGATATATGATATATGATATATATGATATA TGATATATGATATATATGATTGATATATGATATATATGATATATGATATA TGATATATATGATATATGATAATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATGATA TATGATATATATGATATATATGATATATGATATATATGATATATATGATA TATGATATATATGATATATATGATATATGATATATATGATATATAATATA TATGATATATAATATATATGATTGATATATGATATATGATATATATGATA TATATGATATATGATATATGATATATATGATATATATGATATATGATATA TATGATATATATGATATATGATATATATGATTGATATATGATATATGATA TATATGATATATATGATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1791		chr5	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(646): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATACATTTATATACATATAAATATATACATATATACATATAAATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATATT TATATATATTTATATATATATAAATATATATATATTTGTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TACATATAAATATATATTTATATACATATAAATATATAATTATATACATA TAAATATATAATTATATACATATAAATATATATAATTATATACATATAAA TATATATTTATATACATATAAATTTATATACATATAAATATAAATATTTA TATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0177 a0002c0002t0002g0177	1	292	0.0034	653	c.49 others(664): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(646): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATACATTTATATACATATAAATATATACATATATACATATAAATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATATT TATATATATTTATATATATATAAATATATATATATTTGTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TACATATAAATATATATTTATATACATATAAATATATAATTATATACATA TAAATATATAATTATATACATATAAATATATATAATTATATACATATAAA TATATATTTATATACATATAAATTTATATACATATAAATATAAATATTTA TATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0027 a0001c0004t0002g0027	1	292	0.0034	653	c.49 others(664): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(646): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATACATTTATATACATATAAATATATACATATATACATATAAATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATATG TATATATATTTATATATATATAAATATATATATATTTGTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TACATATAAATATATATTTATATACATATAAATATATAATTATATACATA TAAATATATAATTATATACATATAAATATATATAATTATATACATATAAA TATATATTTATATACATATAAATTTATATACATATAAATATAAATATTTA TATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA19065.hp1 NA18961.hp1 NA19065.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0002 a0004c0006t0002 a0002c0002t0002 a0004c0006t0002	a0002c0002t0002g0076 a0004c0006t0002g0244 a0002c0002t0002g0076 a0004c0006t0002g0244	2	292	0.0069	653	c.49 others(664): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATACATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(646): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATATTTACATACATATAAATATATACATTTATATACATATAAATATA TACATATATACATATAAATATATATTTATATACATATAAATATATATATT TATATATATTTATATATATATAAATATATATATATTTGTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TACATATAAATATATATTTATATACATATAAATATATAATTATATACATA TAAATATATAATTATATACATATAAATATATATAATTATATACATATAAA TATATATTTATATACATATAAATTTATATACATATAAATATAAATATTTA TATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0213 a0004c0006t0002g0213	1	292	0.0034	653	c.49 others(664): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATATAAATGTATATATTTATA TGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(646): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTATATACATA TAAATATATATATTTATATACATATAAATATATATTTACATACATATAAA TATATATTTACATACATATAAATATATACATTTATATACATATAAATATA TACATATATACATATAAATATATATTTATATACATATAAATATATATATT TATATATATTTATATATATATAAATATATATATATTTGTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TACATATAAATATATATTTATATACATATAAATATATAATTATATACATA TAAATATATAATTATATACATATAAATATATATAATTATATACATATAAA TATATATTTATATACATATAAATTTATATACATATAAATATAAATATTTA TATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01175.hp1 HG00323.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0129 a0001c0001t0002g0029 a0001c0001t0002g0129	2	292	0.0069	653	c.49 others(664): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
IFNAR1_chr21_33319970_33364864	33323194	T T	TATATATA others(646): Show TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATATGGAAT ATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATA TGGAATATACGTATGGAATATATATATATGGAATATATATGTATGGAATA TATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTAT GGAATATATATGTATGGAATATATATGTATGGAATATATATATGGAATAT ATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATG GAATATATATATGGAATATATATGTATGGAATATACATATGGAATATATA TGTTTGGAATATATATATATGGAATATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATGGAATATATGTATGGAATATATAT ATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAATAT ATATATGGAATATATGTATGGAATATATATATGGAATATATGTATATGGA ATATATATATGGAATATATATATATGGAATATATATGGAATATATATATA TGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0227 a0002c0002t0002g0227	1	323	0.0031	653	c.-18 others(664): Show c.-1862_-1861insATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAAT ATATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATATATATGGAATATATATATGGAATATATATGTATGGAATATA CATATGGAATATATATGTTTGGAATATATATATATGGAATATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATGGAATATAT GTATGGAATATATATATATGGAATATATGTATGGAATATATATATGGAAT ATATGTATGGAATATATATATGGAATATATGTATGGAATATATATATGGA ATATATGTATATGGAATATATATATGGAATATATATATATGGAATATATA TGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1775		chr21	TogoVar
INS_chr11_2154779_2166209	2161748	A A	ACACCCCT others(646): Show ACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAC ACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGA CCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTAT CCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACA CCCCTATCCCCACACCCCTGTCCACACACCCCTATCCCCACACCCCTGTC CCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCC CCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	653	c.-59 others(662): Show c.-599_-598insCCGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGTGGACA GGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTCCCGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAG GGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGG GGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGG GTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGG GTGTGGGGACAGGGGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		540		chr11	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(646): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0105 a0002c0003t0001g0105	1	308	0.0033	653	c.127 others(672): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar

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