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
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(740): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCTTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	370	0.0027	747	c.-27 others(758): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(740): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTG ATGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGT GAGGGTGATGATGGTGGGGGGTAATGACGGTGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTG GGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTA GAGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGAT GGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGA TGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTAGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0046 a0046	a0046c0082 a0046c0082	a0046c0082t0001 a0046c0082t0001	a0046c0082t0001g0102 a0046c0082t0001g0102	1	186	0.0054	747	c.956 others(764): Show c.956+1962_956+1963insCCACCGTCATTACTACCCCCACCCCCAC CCCCACCATCACCCCCACCATCATCACCCTCACCATCATCACCCCCACCA TCACCATCATCACCCCCACCATCATCACCCTCACCCCCACCCCCACCCCC ACCCCCACCATCATCACCTCTACCATCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACC GCCATCACCGTCATCACCCCCACCATCATCGTCATCACCCCCACCATCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCACCGTCATTAC CCCCCACCATCATCACCCTCACCATCATCACCCCCACCCCCACCATCATC ACCCCCACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCCACCCCCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACATCACCGTCATCACCCCCCCACCCCCATCATCACCGTCATCACC CCTCCACCCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGC CCCACCGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCAT CACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(740): Show TATTTTATATATATTTATATATATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATATATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTATATATATATTTATATGTATTTTTATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATACAT ATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATATTTATATA TATATTTATATATATATTTATATATATATTATTTATATATATATTTATAT ATATTTATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATTTATATATATTATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	260	0.0039	747	c.125 others(764): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATAT TTTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTA TATATTTATATATATATATATATATTTATATATATTTATGTATATTTATA TATATATTTATATATATTTATGTATATTTATATATATATTTATATATATT TATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATT TATATATTTATGTATAAATTTATATATATTTATATGTATTTATATATATA TTTATATGTATTTTTATATATTTATATATTTATATGTATTTATACATATA TATTTATATGTATTTATACATATATATTTATATGTATTTATATATATTTA TATATATTTTTTATGTATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TATTTATATATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATTTATATATATTTATATATATTAT ATATATTTATATATATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMF1_chr16_848634_975984	858998	A A	ACGGGACG others(740): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG CAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAG TGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGT GTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	294	0.0034	747	c.153 others(766): Show c.1530-4293_1530-4292insAGACACCACACACCCATCCCGTGACA CCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCAC TCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCA CACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCA TCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCC CGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGA GACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCCTCCCGAGACACCACTGCACACCCG TCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GTGACAACACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC4B_chr19_50511892_50573435	50512540	C C	CGGAAGCC others(740): Show CGGAAGCCATCGGGGTGTGTGGCCATGGTGACACGAAGGCTCTGGAAGCA AGAGCCCGGGTTAGGGGGAGTGGGGTCTTTGCAGGCCTCCCCTGGTTCCT GGGGAGCCCAGCAGGCCTCACCCGGAGGCCCCCAGCTGCATCCAATCTCC TGATGTCCTCAGCGCCCCACAGGGCCCCTCGGGCCACAAACACGGCGTGG TCCCAGTGCTGTGAGGCCTCCAAGAGCTGCCGCTCTGTGGTCTGGTCACT TAGAGCTGAGGGGGACCCCACCTGAAGTGGATATCCTTCCCTGACCTCAA CCCTCCCCTCCTTCATCCACCCCAGGTGGGGTCCCCCTCAGCTCTAAGTG ACCAGACCACAGAGCGGCAGCTCTTGGAGGCCTCACAGCACTGGGACCAC GCCGTGTTTGTGGCCCGAGGGGCCCTGTGGGCGCTGAGGACATCAGGAGA TTGGATGCAGCTGGGGGCCTCCGGGTGAGGCCTGCTGGGCTCCCCAGGAA CCAGGGGAGGCCTGCAAAGACCCCACTCCCCCTAACCCGGGCTCTTGCTT CCAGAGCCTTCGTGTCACCATGGCCACACACCCCCGATGGCTTCCGGCTT GAGGGACCCCTGGCTGCAGCCAGGGCAGCCGCCGCCATGGTGTTTGAATT TCGCGGGGCAAAGGGGCAGAGCCCACGGACAGGGCCTTCGTAGAGCACAG TGCAAGGCCCAGGGCTGTGGGCTGCAGCCAGGGGTCCCTCAAGCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	360	0.0028	747	c.50 others(758): Show c.5030_*5031insTCCGGCTTGAGGGACCCCTGGCTGCAGCCCACAG CCCTGGGCCTTGCACTGTGCTCTACGAAGGCCCTGTCCGTGGGCTCTGCC CCTTTGCCCCGCGAAATTCAAACACCATGGCGGCGGCTGCCCTGGCTGCA GCCAGGGGTCCCTCAAGCCGGAAGCCATCGGGGGTGTGTGGCCATGGTGA CACGAAGGCTCTGGAAGCAAGAGCCCGGGTTAGGGGGAGTGGGGTCTTTG CAGGCCTCCCCTGGTTCCTGGGGAGCCCAGCAGGCCTCACCCGGAGGCCC CCAGCTGCATCCAATCTCCTGATGTCCTCAGCGCCCACAGGGCCCCTCGG GCCACAAACACGGCGTGGTCCCAGTGCTGTGAGGCCTCCAAGAGCTGCCG CTCTGTGGTCTGGTCACTTAGAGCTGAGGGGGACCCCACCTGGGGTGGAT GAAGGAGGGGAGGGTTGAGGTCAGGGAAGGATATCCACTTCAGGTGGGGT CCCCCTCAGCTCTAAGTGACCAGACCACAGAGCGGCAGCTCTTGGAGGCC TCACAGCACTGGGACCACGCCGTGTTTGTGGCCCGAGGGGCCCTGTGGGG CGCTGAGGACATCAGGAGATTGGATGCAGCTGGGGGCCTCCGGGTGAGGC CTGCTGGGCTCCCCAGGAACCAGGGGAGGCCTGCAAAGACCCCACTCCCC CTAACCCGGGCTCTTGCTTCCAGAGCCTTCGTGTCACCATGGCCACACAC CCCGATGGCTTCC	LRRC4B	ENSG00000131409.13	transcript	ENST00000652263.1	protein_coding		4351		chr19	TogoVar
MAN1B1_chr9_137081985_137114183	137102359	A A	ATTCACAC others(740): Show ATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTG CAGGCATGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTG CAGGTCGGTGGTGTTACATTAACACTTGCAGGCGTGCAGGTCGGTGGTGT TACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACA TGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTG CAGGCGTGCAGGTCGGTGGTGTTACACACATTAACGCTGTTGCAGGCGTG CAGGTCGGTGGTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGG TGTTACATTCATGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACAT TCACGCTTTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGC AGGCATGCAGGTCGGTGGTGTTACAGACATTAACGCTGCTGCAGGCGTGC AGGTCGGTGGTACACACATTCACGCTGTTGCAGGCGTGCAGGTCAGTGGT GTTACATTCACGCTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTGAC ACTTGCAGGCGTGCGGGTCGGTGGTGTTACACACATTCATGCTGTTGCAG GCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCG GTGGTACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02922.hp2 HG01884.hp1 HG02055.hp1 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0019	3	404	0.0074	747	c.125 others(764): Show c.1254+692_1254+693insACTGTTGCAGGCGTGCAGGTTGGTGTTA CACACATTCACACTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCA TGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTAACACTTGCAGGCG TGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTC GGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACA CACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTAA CGCTGTTGCAGGCGTGCAGGTCGGTGGTACACACATTCATGCTGTTGCAG GCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCATGCAGGTCG GTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTGTT ACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACAGACATTAAC GCTGCTGCAGGCGTGCAGGTCGGTGGTACACACATTCACGCTGTTGCAGG CGTGCAGGTCAGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTTGG TGTTACACACATTGACACTTGCAGGCGTGCGGGTCGGTGGTGTTACACAC ATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTT GCAGGCGTGCAGGTCGGTGGTACACATGCTGTTGCAGGCGTGCAGGTCGG TGGTGTTACACACTTTCAC	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
MICAL3_chr22_17782649_18029561	17876951	G G	GTTAGGGA others(740): Show GTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGT TATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGG AGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTT ATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATG GAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGAT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0192 a0003c0004t0001g0192	1	274	0.0037	747	c.224 others(766): Show c.2242-4929_2242-4928insTCTCCCTAACCTCCATAACTTCCCTA ACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCA CCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCC TAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACC TCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCAT AACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCT CCATAACCTCCCTCACCTCCATAACTGCCATAACCTCCATAACTTCCCTA ACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTCACCTCCATAAC CTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCA TAACTTCCCTAACCTCCCTAA	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877054	G G	GGGAGGTT others(740): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAG GGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTT AGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAG GTTATGAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0150 a0002c0012t0001g0150	1	274	0.0037	747	c.224 others(766): Show c.2242-5032_2242-5031insGTAACCTCCCTAACCTTCATAACCTC CCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCG TAACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCT AACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATA ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCGTAAC CTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877085	G G	GGTTAGGG others(740): Show GGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGT TAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA AGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAG GTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGG GAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0062 a0003c0004t0001g0062	1	274	0.0037	747	c.224 others(766): Show c.2242-5063_2242-5062insTTCCCTAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCC CTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAAC CTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCC TCACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACC TCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCT CACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTC CCTCACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCATAA CTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCT AACCTCCCTAACCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGGGGGT others(740): Show GTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGT GATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATG GAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGAT GGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATG GAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGT GGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGA TGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0155	1	250	0.0040	747	c.748 others(764): Show c.748+1803_748+1804insATGGTGGTGATGGTGATGGAGGTGGCAG TGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTG GTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGT GATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGG AGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGT GGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGG TGGTGGTGGTGATGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTG GTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGT AGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGA TGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTG GTGGTGATGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGAT GGAGGTGGTGATGGGGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC4_chr3_195741771_195816929	195760471	G G	GTCCAGCG others(740): Show GTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGG ATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGG GGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGG TCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGA TGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGG CTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGGGTC CAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTAGGATG GAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGC TGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCC AGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATG GATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCT GGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCTTCC AGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATG GATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGGC TGGGAAGGTGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19091.hp2 NA19003.hp1 NA19091.hp2	a0026 a0152 a0026 a0152	a0026c0061 a0152c0062 a0026c0061 a0152c0062	a0026c0061t0001 a0152c0062t0001 a0026c0061t0001 a0152c0062t0001	a0026c0061t0001g0147 a0152c0062t0001g0149 a0026c0061t0001g0147 a0152c0062t0001g0149	2	249	0.0080	747	c.148 others(766): Show c.14848+412_14848+413insTGCCTTCCCAGCCCCCTCCACTCCAT CCTAGCGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGA CCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCC CCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCACTCCA TCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGA CGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCC CCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCAT CCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGAC GCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCC CCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATC CTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACG CCTTCCAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCC CTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCT AGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGC CTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCT CCACTCCATCCTAGCGCTGGA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NEU4_chr2_241804193_241822413	241806758	A A	ACCCTCCC others(740): Show ACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCTCCCTCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCTTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCC CCTCAACCCAGAGACCTCCGCAGGCCACCTTCCCTCCCTCCCCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAACCCAGAGACCTCCACAGGCCACCTTCCCTCCCCCTCAACCCA GGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	747	c.-25 others(758): Show c.-2520_-2519insCCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCCTCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCGGCAG GCCACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCCACCTTCCCT CCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAACCCAGAGACCTCCACAGGCCACCTTCC CTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTC TGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2434		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149505	C C	CCCCTCGG others(740): Show CCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC GCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	294	0.0034	747	c.901 others(762): Show c.901+624_901+625insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCT AATCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDCD6_chr5_266646_319974	310018	C C	CGGCCCAG others(740): Show CGGCCCAGTGGGGCCGTCCGTGCACCCAGTGATGGCCGCCGTCCCCGTGC ACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCC CCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCG CCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCCAGTG AGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACC CCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCG TGCACCCCAGTGAGGGCCGCCGTCCCCCCGTGCACCCCAGTGAGGGCCGC CGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAG GGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACACC AGTGAGGGCCGCCGTCCCCCCGTGCACCCAGTGAGGGCCGCCGTCCCCGT GCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGT CCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTCCCCGT GCACCCCAGTGATGGCCGCCGTCCCCGTGGCCGCCGTCCGTGCACCCCAG TGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCA CCCCAGTGATGGCCGCCGTCCCCGTGCACACCAGTGATGGCCGCCGTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	360	0.0028	747	c.368 others(764): Show c.368-1275_368-1274insGGCCCAGTGGGGCCGTCCGTGCACCCAG TGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCA CCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCC CGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGC CGTCCCCGTGCACCCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGA GGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCC CAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCCC GTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCC GTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATG GCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCCCGTGCACCC AGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTG CACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTC CCCGTGCACCCCAGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTG GCCGCCGTCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGT GATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCAC ACCAGTGATGGCCGCCGTG	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5			chr5	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(740): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGGT GTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAG TCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGG GTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTG AGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGGTGTGGGGATGC ACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAG GGGGGGGCGTGGGGATGCACTGAGTCTGGGGATGGGTGGGGTGTGGGGAT GCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG GGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGGGGGGGGTGTGGGGATG CACTGAGTCTGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAG GGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGCGTGGGGAT GCACTGAGTCTGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0121 a0001c0008t0001g0121	1	282	0.0036	747	c.299 others(762): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCCCCCAGACTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACTCAGT GCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCC CCCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCCCCAGACTCAGT GCATCCCCACACCCCCCCCCCCCAGACTCAGTGCATCCCCACACCCCCCC CTCCCCCAGACTCAGTGCATCCCCACACCCCACCCATCCCCAGACTCAGT GCATCCCCACGCCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCG CCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCCTCCCCCAGACTC AGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCA GACTCAGTGCATCCCCACACCCCCCCCCTCCCCCAGACTCAGTGCATCCC CACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCC CCAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCAGTGCAT CCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(740): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTT CCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCC TTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	312	0.0032	747	c.306 others(766): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCC TTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCC CTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKAG2_chr7_151551127_151882115	151855389	A A	ACACCGCC others(740): Show ACACCGCCCTCCACACACACCATCCTCCACACACACCACCCTCCACACAC CACCCTCCACACACACCGCCCTCCACACACCGCCCTCCACACACACCACT TTACACACACGCCACCCTCCACACACCACCCTACACACACACCACCCTCC ACACACGCCACCCTCCACACACACCACCCTCCACACACACCACGCTCCAC ACACACCGCCCTCCACACACACCACCCTCCACACACACCACCCTCCACAC ACACCACCCTCCACACACCACCCTCCACACACACCACCCTCCACACACCA CCCTCCACACACACCACCCTCCACACACACCACCCTCCACACACCACCCT CCACACACACCACCCTCCACACACCGCCCTCCACACACACCATGCTCCAC ACACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACAC ACACCATCCTCCACACACACCACCCTCCACACACCACCCTCCACACACAC CGCCCTCCACACACCGCCCTCCACACACACCACTTTACACACACGCCACC CTCCACACACCACCCTACACACACACCACCCTCCACACACGCCACCCTCC ACACACACCACCCTCCACACACACCACGCTCCACACACACCGCCCTCCAC ACACACCACCCTCCACACACACCACCCTCCACACACACCACCCTCCACAC ACCACCCTCCACACACACCACCCTCCACACACCACCCTCCACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	252	0.0040	747	c.114 others(766): Show c.114+21117_114+21118insGTGTGTGTGGAGGGTGGTGTGTGGAG GGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTG GTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGT GTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGCGTGTGTGGAGGGTGGTGT GTGTGTAGGGTGGTGTGTGGAGGGTGGCGTGTGTGTAAAGTGGTGTGTGT GGAGGGCGGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGGAGGG TGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCG GTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCGGT GTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGT GGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAG GGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTG GTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGAGGGTGGT GTGTGTGGAGGGTGGCGTGTGTGGAGGGTGGTGTGTGTGTAGGGTGGTGT GTGGAGGGTGGCGTGTGTGTAAAGTGGTGTGTGTGGAGGGCGGTGTGTGG AGGGCGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGA TGGTGTGTGTGGAGGGCGGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PXDN_chr2_1626887_1749515	1710919	A A	ACTCTCCA others(740): Show ACTCTCCACCAGCACCCACTCTATGAACACCCACTCTCCACCAGCACCCG CTCTACCAGCACCCACTCTATGAACACCCACTCTCCACCAGCACCCACTC CACCAGCACCCTCTCCACCAGCACCCACTCCACCAGCACCCACTCCACCA GCACCCACTCTCCACCAGCACCCACTCCACCAGCACCCACTCCACCAGCA CCCACTCTCCACCAGCACCCACTCCACCAGCACCCACTCCACCAGCACCC ACTCTCCACCAGCACCTGCTCCACCAGCACCCACTCTCCACCAGCACCCA CTCTCCACCAGCACCCACTCTATGAACACCCACTCTCCACCAGCACCCGC TCTACCAGCACCCACTCTATGAACACCCACTCTCCACCAGCACCCACTCC ACCAGCACCCTCTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACC AGCACCCACTCTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCA GCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCACTCTCCACCAG CACCCACTCCACCAGCACCCACTCCACCAGCACCCTCTCCACCAGCACCC ACTCCACCAGCACCCACTCTCCACCAGCACCCACTCTCCACCAGCACCCA CTCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCACCCACTC TCCACCAGCACCCACTCTCCACCAGCACCCACTCCACCAGCACCCACT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0011 a0002c0009t0011	a0002c0009t0011g0300 a0002c0009t0011g0300	1	322	0.0031	747	c.201 others(766): Show c.201-17786_201-17785insAGTGGGTGCTGGTGGAGTGGGTGCTG GTGGAGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGG TGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGT GGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGGGTGCTGGTGGA GTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGAG TGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGG GTGCTGGTGGAGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGG TGCTGGTGGAGAGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGTGGGTGT TCATAGAGTGGGTGCTGGTAGAGCGGGTGCTGGTGGAGAGTGGGTGTTCA TAGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGAGTGGGTGCTGGT GGAGCAGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGA GTGGGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGTG GGTGCTGGTGGAGAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAGTGGGT GCTGGTGGAGAGGGTGCTGGTGGAGTGGGTGCTGGTGGAGAGTGGGTGTT CATAGAGTGGGTGCTGGTAGAGCGGGTGCTGGTGGAGAGTGGGTGTTCAT AGAGTGGGTGCTGGTGGAGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(740): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATT ATATATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACACAATATATTATATAATAATATGT AATACATTATACATTATTATATAAGTATATGTAATACATTATACATTATT ATATAAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAA TATATATTATACATTATTATATAAGCATATAATATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0217 a0001c0001t0084g0217	1	220	0.0046	747	c.24+ others(764): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATTATATATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACA ATATATTATATAATAATATGTAATACATTATACATTATTATATAAGTATA TGTAATACATTATACATTATTATATAAGTATATGTAATATATATTATACA TTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGCATA TAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(740): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	330	0.0030	747	c.-50 others(758): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(740): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGCTCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01516.hp2 HG01517.hp1 HG00735.hp1 HG01516.hp2 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0002 a0002c0002t0002 a0002c0004t0002	a0002c0002t0002g0101 a0002c0004t0002g0008 a0002c0002t0002g0101 a0002c0004t0002g0008	3	330	0.0091	747	c.-50 others(758): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
SCGB1C2_chr17_132569_144067	139506	C C	CGTGCGAA others(740): Show CGTGCGAAAGTCCCCACAGAGGGACACACAAATGGGGACATCAGGAACAC AGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGG AGCACACGTGCAAAAGTCCCCACAGAGGGACACACAAATGGGGACATCAG GAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCAC TCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGACACACAAATGGGGA CATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGA TCCTACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGACACACAAA TGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATAC AGAGGATCCTACTCAAGGAGCACACGTGCGAAAGTCCCCCACAGAGGGAC ACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACC CACATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAG AGGGACACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACA CAGACCCACATACAGAGGATCCTACTCAAGGAGCACACGTGCGAAAGTCC CCACAGAGGGGCACACAAATGGGGACATCAGGAACACACTCAGGGCCACA GCCACACACACAGACCCACATACAGAGGATCCCACTCAAGAAGCACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	402	0.0025	747	c.56 others(756): Show c.564_*565insGTGCGAAAGTCCCCACAGAGGGACACACAAATGGGG ACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGG ATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGACACACAA ATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGAC ACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACC CACATACAGAGGATCCTACTCAAGGAGCACACGTGCAAAAGTCCCCACAG AGGGACACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACA CAGACCCACATACAGAGGATCCTACTCAAGGAGCACACGTGCGAAAGTCC CCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGGGCCACAGCC ACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCG AAAGTCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGGGCC ACAGCCACACACACAGACCCACATACAGAGGATCCTACTCAAGGAGCACA CGTGCGAAAGTCCCCACAGAGGGGCACACAAATGGGGACATCAGGAACAC ACTCAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTC AAGAAGCACAA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		440		chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(740): Show AATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA TAGGATGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGATGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGATGGTTAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0259 a0001c0003t0004g0259	1	376	0.0027	747	c.101 others(766): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAG GATGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGATGGTTAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGG ATAGGATGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(740): Show ATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGAGAGGGTGGAGAGG GTGAATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGATAGGGTGGTTAGGG TGGTTAGGGTGGATAGGATGGTTAGGGTGGAGAGGGTGGAGAGGGTGAAT AGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGTTA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTG GATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAG GGTGGACAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGG ACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGTTAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0100 a0001c0003t0007g0100	1	376	0.0027	747	c.101 others(766): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GAGAGGGTGGAGAGGGTGAATAGGGTGGTTAGGGTGGTTAGGGTGGTTAG GGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGG ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGAGAGG GTGGAGAGGGTGAATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAC AGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGT GGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGTTA GGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTG GACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGAGAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(740): Show TAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGATGGAT AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	376	0.0027	747	c.101 others(764): Show c.1014-785_1014-784insCAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGATGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGAGAGGGTGG AGAGGGTGGAGAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1628845	A A	AGGTGGGA others(740): Show AGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAACTCACGGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGA CAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGG GTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGG GGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCG GGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCAGGAAGGGGACAGCAGAGCTCACGGGGTGAGGT GGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0156 a0002c0002t0029g0156	1	352	0.0028	747	c.299 others(764): Show c.299-1420_299-1419insCCACCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATG AGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTT CCTGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGT GAGTTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCCGTGAGCTCTGCTGT CCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATC CCCTGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTG CTGTCCCCTTTCCGCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCCA CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCT CTGCTGTCCCCTTCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(740): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAA TATATTATATATAATATGCATATTATATGTATTATATATTATATATTATA TATATAATATACATATTATATGTATTATATATTATATATTATATATATAA TATACATATTATATGTATTATATATTATATATAATATACATATTATATAT TATATATTATATACATATTATATATTATATATTATATACATATTATATAT TATATACATATTATATATTATATATTATATACATATTATACATTATATAT ATCTAAAATATATAATACACATTATATATTATATAATACACATTATATAT AATATATAATACACATTATATATTATATATAATACACATTATATATTATA TATAATACACATTATATATTATATAATACACATTATATATTATATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATAATACACATTATATATTATATATAATACACATTATA TATATAATACACATTATATATTATATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	360	0.0028	747	c.62 others(758): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGCATATAATAGGTATATTATATATAATGTATATAATAGGTAT ATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(740): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATATAATATACATATTATATGTATTATAT ATTATATATAATATACATATTATATATTATATATTATATACATATTATAT ATTATATATTATATACATATTATATATTATATACATATTATATATTATAT ATTATATACATATTATACATTATATATATCTAAAATATATAATACACATT ATATATTATATAATACACATTATATATAATATATAATACACATTATATAT TATATATAATACACATTATATATTATATATAATACACATTATATATTATA TAATACACATTATATATTATATATAATACACATTATATATTATATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATAATACACATTATATATTATATATAATACACATTATA TATATAATACACATTATATATTATATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	360	0.0028	747	c.62 others(758): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATTATATATAATGTGT ATTATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTAT AATATGTATATAATATATAATATATAATATGTATATAATATATAATATGT ATATAATATATAATATATAATATGTATATAATATATAATATATAATATGT ATATTATATATAATATATAATACATATAATATGTATATTATATATATAAT ATATAATATATAATACATATAATATGTATATTATATATATAATATATAAT ATATAATACATATAATATGCATATTATATATAATATATTATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATAGGTATATTTTATATATAATAGGTATATTATATATAATAGGTATAT TATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THBS2_chr6_169210785_169258846	169242825	T T	TTCCCACC others(740): Show TTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCT TCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACTGC TCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTC CCACCTTCCCACATTCCCACCTTCCCACCTTCCCACCTTCCTACCGCTCC CACCTTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACTGCTCCC ACCTTCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTTCCCAC CTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACC TTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACAT TCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACCAC TCCTACCTTCCTACCTTCCCACCGCTCCCACATTCTCACCTTCCCACCTT TCCACCTTCCCACCACTCCTACCTTCCCACCTTCCCACATTCCCACCTTC CCACCTTCCCACATTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCC CACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCC CATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG01109.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0043 a0001c0001 a0001c0043	a0001c0001t0012 a0001c0043t0012 a0001c0001t0012 a0001c0043t0012	a0001c0001t0012g0044 a0001c0001t0012g0046 a0001c0001t0012g0047 others(1): Show a0001c0001t0012g0044 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0043t0012g0045	4	396	0.0101	747	c.695 others(762): Show c.695-868_695-867insGTGGTGGGAAGGTGGGAAGGTGGGAGCGGT GGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGT GGGAGCGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGT GGGAATGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTAG GAGTGGTGGGAAGGTGGAAAGGTGGGAAGGTGAGAATGTGGGAGCGGTGG GAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAGTGG GAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGA AGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAT GTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAATGTGGGAAGG TGGGAAGGTGGGAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGT GGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTG GGAAGGTGGGAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGG GAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGG GAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGG AAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870794	A A	ACATACCC others(740): Show ACATACCCCACACACCACACACACCACACACACCACACACCCCCCACACA CCACACACCCCACACACACCACACACCCCACACACACCACACCCCACACA CACCACACACACCACACACACCACACACCCCCCACACACCACACCCCACA CACACCACACACCCCACACACACATCACATACCCCACACACCACACACCC CACACACACCACACACCCCCCACACACCACACCCCCACACACACCCACCC CACCCACACCACACCACACACCCCACACACACCACACACCCCACACACAC CACACAAACCACACACCCTACACACCCCACACACACCACACACACACATC ACATACCACACACACACCACATACCACACACAAACCACACACCACACACA CACCACACACCCCACACACACATCACATTCACACCCCACACACACCCACA CACCCCACACCCCACACCACACCCCACACCCACACACACACCACCCCACA CACACCACACACCCCACACACCACCACACACCCCCACACACCACACCCCA TACACACCACACCCCCACACACACCACACCCCACACCACACACACCCCAC ACACACCCCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACACCCCATACACACCACACACACCACA CACACCACACACCCCACACACACCACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	338	0.0030	747	c.35 others(766): Show c.35+22063_*35+22064insTACCCCACACACCACACACACCACAC ACACCACACACCCCCCACACACCACACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACACACCACACACACCACACACC CCCCACACACCACACCCCACACACACCACACACCCCACACACACATCACA TACCCCACACACCACACACCCCACACACACCACACACCCCCCACACACCA CACCCCCACACACACCCACCCCACCCACACCACACCACACACCCCACACA CACCACACACCCCACACACACCACACAAACCACACACCCTACACACCCCA CACACACCACACACACACATCACATACCACACACACACCACATACCACAC ACAAACCACACACCACACACACACCACACACCCCACACACACATCACATT CACACCCCACACACACCCACACACCCCACACCCCACACCACACCCCACAC CCACACACACACCACCCCACACACACCACACACCCCACACACCACCACAC ACCCCCACACACCACACCCCATACACACCACACCCCCACACACACCACAC CCCACACCACACACACCCCACACACACCCCACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCCACACACACACCCC ATACACACCACACACACCACACACACCACACACCCCACACACACCACACC CCACACACCCCACACACACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(740): Show TAATAATATAATAATTATTATATTATTATATATAATTATATATAATAATA TATATTATATTATTATATATAATAATATATAATAATATATATTATATTAT TATATATAATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATAATTATATATAATAATATA ATATATATTATTATATATAATTATATATAATAATATAATATATATTATTA TATATAATTATATATAATAATATAATATATATTCTTATATATAATAATAA TATATATATATTATTATATATAATTATATATAATAATATAATATATATTA TTATATATAATTATATATAATAATATAAATATATTATTATATATTATTAT ATATAATAATATAATATATATTATATATTATTATATATAATAATATAATA TATATTATATATTATTATATATAATAATATAATATATATTATTATATATT ATTATATATAATAATATAATATATATTATTATATATAATAATATAATATA TATTATTATATATTATTATATATAATAATATAATATATATTATTATATAT AATAATATAATATATATTATTATATATTATTATATATAATAATATAATAT ATATTATTATATATAATAATATAATATATATTATTATATATTATTATATA TAATAATATAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	238	0.0042	747	c.392 others(764): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAAGAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATTATATATAATAA TATATATTATATTATTATATATAATAATATATAATAATATATATTATATT ATTATATATAATTATATATAATAATATAATATATATTATTATATATTATT ATATATAATAATATAATATATATTATTATATATAATTATATATAATAATA TAATAATTATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530547	A A	ATTATATA others(740): Show ATTATATATAATTATATATAATAATATAATATATATTATTATATATAATA TTATATAATAATATATATATATTATTATATATATTATATAATAATATAAT ATATATTATTATATATTATTATATAATTATATATAATAATATAATATATA TAATATTATTATATATAATAATATAATATATATTATTATTATATATTATA TAATTTATATAATATATATATATTATTATATATAATTATATATAATAATA TATATTATATTATTATATATAATTATATATAATAATATATATATATTATA TATAATTATATATAATATATATATATTATTATATATAATTATATATAATA TATATATATTATTATATATAATTATATATAATAATATATATATATTATTA TATATATTATATATAATAATATATATATATTATTATATATAATAATATAT AATATAATAATATTATTAAATATTATTATATATAATAATATAATATATAT TATATATTTATTATATATAATAATATAATATATATTATATATTATTATAT ATAATAATATAATATATATATTATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATATAATATATATTATATATTATTATATATAATAATATAATATATATT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	238	0.0042	747	c.392 others(764): Show c.392+6171_392+6172insAATATATATTATATTATTATATATAATA ATATATAATATATATTATATTATATATAATAATATATAATAATATATATT ATATTATTATATATAATAATATATAATAATATATATTATATTATTATATA TAATAATATATAATAATATATATTATATTATTATATATAATAATATATAA TATATATATTATATTATTATATATAATAATATATAATATATATTATATTA TTATATATAATAAATATATAATATATATTATATTATTATATATAATAATA TTTAATAATATTATTATATTATATATTATTATATATAATAATATATATAT ATTATTATATATAATATATATAATAATATATATATATTATTATATATAAT TATATATAATAATATATATATATTATATATAATTATATATAATAATATAT ATATATTATATATAATTATATATAATATATATATATTATTATATATAATT ATATATAATAATATAATATATATTATTATATATAATTATATATAATAATA TATATATATTATATAAATTATATAATATATAATAATAATATATATTATAT TATTATATATAATAATATTATATATATTATATTATTATATATAATTATAT AATAATATATAATAATATATATTATATTATTATATAATATATATAATAAT ATATATATATTATTATATAATATTATATATAATAATATATATTATATTAT TATATATAATTATATATAA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZZEF1_chr17_3999445_4148030	4018979	T T	TCTGGACT others(740): Show TCTGGACTGTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTA TTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGG GACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCT GGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCT GATTACTTGAGATTAGGGATTGGTGATGACTCTTAATGAGCATGCTGCCT TCAAGCATCTGTTTAACAAAGCACATCTTGCACCACCCTTAATCCATTTA ACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAA GGTCACAGATCAACAGGATCCCAAGACAGAGGAATTTTTCTTAGTGCAGA ACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACATGGCAA CTATCCGATTTCTCAATCTTTTCCCCGCCTTTCCCGCCTTTCTATTCCAC AAGGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACAC CTCCCAGACGGGGTGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCAGGGGGCTGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02886.hp2 HG02895.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0016 a0013c0018t0016	a0013c0018t0016g0246 a0013c0018t0016g0247 a0013c0018t0016g0246 a0013c0018t0016g0247	2	296	0.0068	747	c.750 others(764): Show c.7505+689_7505+690insCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCC CTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCC AGGATGACAATGGCGGCCTTGTGGAATAGAAAGGCGGGAAAGGCGGGGAA AAGATTGAGAAATCGGATAGTTGCCATGTCTGTGTAGAAAGAAGTAGACA TGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGTCTTGG GATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACAT GTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGTGGTGCAAGATGTGC TTTGTTAAACAGATGCTTGAAGGCAGCATGCTCATTAAGAGTCATCACCA ATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGG GTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTG ACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAG AAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAA AAAAAAAAAAACAGTCCAG	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	46/54			chr17	TogoVar
ZZEF1_chr17_3999445_4148030	4018979	T T	TCTGGACT others(740): Show TCTGGACTGTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTA TTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGG GACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCT GGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCT GATTACTTGAGATTAGGGATTGGTGATGACTCTTAATGAGCATGCTGCCT TCAAGCATCTGTTTAACAAAGCACATCTTGCACCACCCTTAATCCATTTA ACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAA GGTCACAGATCAACAGGATCCCAAGACAGAGGAATTTTTCTTAGTGCAGA ACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACATGGCAA CTATCCGATTTCTCAATCTTTTCCCCGCCTTTCCCGCCTTTCTATTCCAC AAGGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACAC CTCCCAGACGGGGTGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0018 a0013c0018t0018	a0013c0018t0018g0016 a0013c0018t0018g0016	1	296	0.0034	747	c.750 others(764): Show c.7505+689_7505+690insCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCA GCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCC AGGATGACAATGGCGGCCTTGTGGAATAGAAAGGCGGGAAAGGCGGGGAA AAGATTGAGAAATCGGATAGTTGCCATGTCTGTGTAGAAAGAAGTAGACA TGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGTCTTGG GATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACAT GTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGTGGTGCAAGATGTGC TTTGTTAAACAGATGCTTGAAGGCAGCATGCTCATTAAGAGTCATCACCA ATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGG GTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTG ACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAG AAACACCCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAA AAAAAAAAAAACAGTCCAG	ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	46/54			chr17	TogoVar
ABCB11_chr2_168915781_169036324	168975514	T T	TATAAATA others(741): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATA TAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0005 a0005	a0005c0068 a0005c0068	a0005c0068t0001 a0005c0068t0001	a0005c0068t0001g0232 a0005c0068t0001g0232	1	306	0.0033	748	c.130 others(767): Show c.1308+1062_1308+1063insGTATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATATAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(741): Show ACACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACACC CATACACACACACCCACCCACCCACACCCACACCCACCACACACACCCAC ACCCCCACACACACCCTCCCACCCCCACACACACATACCCCCACCACACA CCCACACACCCCCTCACACACACACCCACACCCACCACACACCCCCACCA CACACCCACATACACCCACACCCCCACCACACACCCATACACACACCCCC ACATACTAATACACACACACCCCCACACCCTCCCACCCCCCCCACACCCC CACCACACACCAATACACACCCACACACCCCCTCACACACACACCCACAC ACCCATACACACACCCACCACACACCCATACATACACACCCCCACACCCC CTCACACCCTCCCCCCACTCACCCATACACAACCCCCACCACACCCCCAC ACCCATACACACACACACCCCCACCACACCCATACACACACCCCTGCACC CCCTCACACACCCTCCCCCCCCCACACACCCATACACACACCCCCACACC CCCACCACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCCCA CACACCTATCCCCACCACACACCCATACACACACACCCACACACACACCA CACCCATACACACACATACCCCCACACCCCCACACACACCCTCCCTCACA CACACCCCCACCACACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0007 a0002c0015t0007	a0002c0015t0007g0071 a0002c0015t0007g0071	1	248	0.0040	748	c.387 others(767): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATG GGTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGG TGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGT GGGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATG GGTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGT GTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTG TGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGGTGGGAGGGTGTG GGGGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGG GGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGT GTGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGGG GGTGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGT GGGTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTG TGTGTGTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(741): Show ACACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACACC CATACACACACACCCACCCACCCACACCCACACCCACCACACACACCCAC ACCCCCACACACACCCTCCCACCCCCACACACACATACCCCCACCACACA CCCACACACCCCCTCACACACACACCCACACCCACCACACACCCCCACCA CACACCCACATACACCCACACCCCCACCACACACCCATACACACACCCCC ACATACTAATACACACACACCCCCACACCCTCCCACCCCCCCCCACACCC CCACCACACACCAATACACACCCACACACCCCCTCACACACACACCCACA CACCCATACACACACCCACCACACACCCATACATACACACCCCCACACCC CCTCACACCCTCCCCCCACTCACCCATACACAACCCCCACCACACCCCCA CACCCATACACACACACACCCCCACCACACCCATACACACACCCCTGCAC CCCCTCACACACCCTCCCCCCCCACACACCCATACACACACCCCCACACC CCCACCACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCCCA CACACCTATCCCCACCACACACCCATACACACACACCCACACACACACCA CACCCATACACACACATACCCCCACACCCCCACACACACCCTCCCTCACA CACACCCCCACCACACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0007 a0002c0015t0007	a0002c0015t0007g0091 a0002c0015t0007g0091	1	248	0.0040	748	c.387 others(767): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATG GGTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGG TGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGT GGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGT GGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGG GTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTG TGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGT GGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGGGTGGGAGGGTGTG GGGGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGG GGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGT GTGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGGG GGTGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGT GGGTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTG TGTGTGTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(741): Show ACACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACACC CATACACACACACCCACCCACCCACACCCACACCCACCACACACACCCAC ACCCCCACACACACCCTCCCACCCCCACACACACATACCCCCACCACACA CCCACACACCCCCTCACACACACACCCACACCCACCACACACCCCCACCA CACACCCACATACACCCACACCCCCACCACACACCCATACACACACCCCC ACATACTAATACACACACACCCCCACACCCTCCCACCCCCCCCCACACCC CCACCACACACCAATACACACCCACACACCCCCTCACACACACACCCACA CACCCATACACACACCCACCACACACCCATACATACACACCCCCACACCC CCTCACACCCTTCCCCCACTCACCCATACACAACCCCCACCACACCCCCA CACCCATACACACACACACCCCCACCACACCCATACACACACCCCTGCAC CCCCTCACACACCCTCCCCCCCCACACACCCATACACACACCCCCACACC CCCACCACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCCCA CACACCTATCCCCACCACACACCCATACACACACACCCACACACACACCA CACCCATACACACACATACCCCCACACCCCCACACACACCCTCCCTCACA CACACCCCCACCACACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0180 a0001c0010t0007g0180	1	248	0.0040	748	c.387 others(767): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATG GGTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGG TGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGT GGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGT GGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGG GTGAGTGGGGGAAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTG TGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGT GGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGGGTGGGAGGGTGTG GGGGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGG GGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGT GTGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGGG GGTGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGT GGGTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTG TGTGTGTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABR_chr17_998519_1184981	1053314	T T	TTCACAGG others(741): Show TTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACA GGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGA GGGTTCCGGAACGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTC CGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCAAGAAG GGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAG GGCTCACAGGGCCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCA CAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGT CAGAGGGAGGGTTCAAGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGG GAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGT TCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGA ACGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGC TGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGG AGGGTTCACAGGGTCAGAGGGAGGGTTCGAGAAGGGGCTGGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	337	0.0030	748	c.156 others(767): Show c.1562-2681_1562-2680insGCCCTCCCCCAGCCCCTTCTCGAACC CTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCT CTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACC CTGTGAACCCTCCCCCAGCCCGTTCCGGAACCCTCCCTCTGACCCTGTGA GCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGACCCCTC CCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAG CCCCTTCTTGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTT CCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAA CCCTCCCTCTGGCCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCC CTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGA CCCTGTGAGCCCTCCCCCAGCCCCTTCTTGAACCCTCCCTCTGACCCTGT GAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCC TCCCCCAGCCCGTTCCGGAACCCTCCCTCTGACCCTGTGACCCCTCCCCC AGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCC TTCCGGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGG AACCCTCCCTCTGACCCTGTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
AHRR_chr5_316714_443285	415308	T T	TGGGAGGC others(741): Show TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCG GGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAACCTGCCTGGT CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAG GGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGAGGCCT AGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCC TGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGC CTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTG CCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAG GCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATC TCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGG AGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAA TCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0009 a0003c0004t0004g0009	1	268	0.0037	748	c.441 others(765): Show c.441+1893_441+1894insGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGG TCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAACCTGCCT GGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCC TAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGAGG CCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCT CCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGA ATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGG GCGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415409	G G	GTGGGAGG others(741): Show GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGG CCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC GGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGG TCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTA GGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCC TAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGC CTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGG GAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGA ATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	268	0.0037	748	c.441 others(765): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGA GGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGA ATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGC GGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTC GGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGG GGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGG TCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTA GGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(741): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGT CGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTG GTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCC TGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGC CTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTG CCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAG GCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTC TGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAA TCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0001 a0011c0026t0001	a0011c0026t0001g0170 a0011c0026t0001g0170	1	268	0.0037	748	c.441 others(765): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGG GAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGA ATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGC GGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGG CCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTC GGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGG TGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTA GGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(741): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCC TGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGC CTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTG CCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAG GCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAA TCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTG GGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCG AATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGG TGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGC CGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0155 a0001c0001t0050g0155	1	268	0.0037	748	c.441 others(765): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGG GAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGA ATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGG GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGG CCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTG GGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGG GGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGG TGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTA GGGGCCGAGTCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(741): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAG GAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAA GGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAAGGGAAGGAAGGGAATGG GAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAG GGAAGAAAGAAGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAA GGGAAAGGGAAGGGGAAGGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAA GGGGAAGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAG GGAAGGGGAAGGGGAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGT GAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAG GGAGGGAGGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGA GAGGGGACGGGAAGAGAGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGG AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0053 a0001c0002t0008g0053	1	242	0.0041	748	c.927 others(765): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCTCTCTTCCCGTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCGT CCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTTT CTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTCC TTTTCCTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCCT TTCCCTTACTTTTCCTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTT CCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTT TCCCTTCCCCTTCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTTCCT TTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCTTCCCTTCCCCTTCCCT TCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTT TCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTT TCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTT TCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTC CCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(741): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGGA AAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGA AAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGA AGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAA AAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGG GAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGG GAAGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAG GGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGG GGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGG GGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGG GAGGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGG GAGGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGA AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	242	0.0041	748	c.927 others(765): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCCTTCCCTTCCCCTTCCCTTCCCTT TCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTT CCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTC CCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP9B_chr18_79064394_79383283	79358113	C C	CCCTGGGT others(741): Show CCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCCCT GGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGT GTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGA GGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGA TGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGT GTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCT GTGTGAGGGACCCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCTGTGT GAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGG GGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTG CTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGT CCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGT GTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGA GGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGG AGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGA CCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0011 a0012 a0011 a0012	a0011c0030 a0012c0023 a0011c0030 a0012c0023	a0011c0030t0001 a0012c0023t0001 a0011c0030t0001 a0012c0023t0001	a0011c0030t0001g0254 a0012c0023t0001g0042 a0011c0030t0001g0254 a0012c0023t0001g0042	2	298	0.0067	748	c.290 others(767): Show c.2904-1223_2904-1222insTGTGTGAGGGACCCTGTGTGAGGGGT GCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTG TCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTG TGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTG AGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTG GAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGG TGTCTGTGTGAGGGACCCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTC TGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAG GGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGA GGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTG TCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTG TGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTG AGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGG GTGTCCTGGGTCTGGAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1B_chr9_137872782_138129619	138113647	A A	AAGGTGCC others(741): Show AAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTG CCCAACTGCATCTTGCGGGAGACGTGAGGGAGTGCCGGGAGGTGCCCAAC TCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTCCATC TTGTGGGAGACGTGAGGGAGCGCCGGGAGGTGCCCAACTCCATCTTGTGG GAGACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCACCTTGTGGGAGACG TGAGGGAGTGCCGGGAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGG AGTGCCGGGAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCA GGAAGGTGCCCAACTGCATCTTGCGGGAGACGTGAGGGAGTGCCGGGAGG TGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCA ACTCCATCTTGTGGGAGACGTGAGGGAGCGCCGGGAGGTGCCCAACTCCA TCTTGTGGGAGACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCACCTTGT GGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTCCATCTTGTGGGAGA CGTGAGGGAGCGCCGGGAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAG GGAGCGCAGGAAGGTGCCCAACTCCACCTTGTGGGAGACGTGAGGGAGTG CCGGGAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGTGCCGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0037 a0001c0002t0008 a0001c0002t0037	a0001c0002t0008g0241 a0001c0002t0037g0242 a0001c0002t0008g0241 a0001c0002t0037g0242	2	248	0.0081	748	c.553 others(765): Show c.5537-474_5537-473insTGCCGGGAGGTGCCCAACTCCATCTTGT GGGAGACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCTCCTTGTGGGAGA CGTGAGGGAGCGCAGGAAGGTGCCCAACTGCATCTTGCGGGAGACGTGAG GGAGTGCCGGGAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCG CAGGAAGGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGCGCCGGGA GGTGCCCAACTCCATCTTGTGGGAGACGTGAGGGAGTGCCGGGAGGTGCC CAACTCCACCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTC CATCTTGTGGGAGACGTGAGGGAGCGCCGGGAGGTGCCCAACTCCTCCTT GTGGGAGACGTGAGGGAGCGCAGGAAGGTGCCCAACTCCACCTTGTGGGA GACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCATCTTGTGGGAGACGTG AGGGAGTGCCGGGAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAG CGCAGGAAGGTGCCCAACTGCATCTTGCGGGAGACGTGAGGGAGTGCCGG GAGGTGCCCAACTCCTCCTTGTGGGAGACGTGAGGGAGCGCAGGAAGGTG CCCAACTCCATCTTGTGGGAGACGTGAGGGAGCGCCGGGAGGTGCCCAAC TCCATCTTGTGGGAGACGTGAGGGAGTGCCGGGAGGTGCCCAACTCCACC TTGTGGGAGACGTGAGGGAG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(741): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCT TCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0005 a0001c0001t0027g0005	1	142	0.0070	748	c.244 others(767): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAAAG AGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGG AGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAA GGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAA GGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAA GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG AAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(741): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTCCCTCCTTCTTTCTTCCCTCCTGCCTTCCCCCTTCCCC CTTCCTCCCTCCTTCTTTCTTCCCTCCTGCCTTCCCCCTTCCCCCTTCCT CCCTCCTTCTTTCTTCCCTCCTGCCTTCCCCCTTCCCCCTTCCTCCCTCC TTCTTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCCTCCTTCTTT CTTCCCTCCTGCCTTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCT TCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCT CCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCC CCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGT CCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCC TCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCCCCCCTCCTCCCTTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0001 a0001c0002t0013g0001	1	354	0.0028	748	c.69 others(759): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTCCCTCCTTCTTTCTTCCCTCCTG CCTTCCCCCTTCCCCCTTCCTCCCTCCTTCTTTCTTCCCTCCTGCCTTCC CCCTTCCCCCTTCCTCCCTCCTTCTTTCTTCCCTCCTGCCTTCCCCCTTC CCCCTTCCTCCCTCCTTCTTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTCCCTCCTTCTTTCTTCCCTCCTGCCTTCCCCCTTCCTCCCTCCCCCC TTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCT CCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATC CCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTAC CCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCT CCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(741): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTC CCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCC ACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTC TTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0164 a0001c0003t0033g0164	1	270	0.0037	748	c.162 others(769): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCC TCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTC TTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTT CCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCC TCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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