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
SCNN1D_chr1_1275436_1297025	1289509	C C	CCGTGTCT others(807): Show CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCATGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCATGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0033 a0002c0003t0002g0033	1	280	0.0036	814	c.166 others(831): Show c.1663-761_1663-760insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCATGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCATGT CTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCATTCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(807): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAG CCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGG GGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	207	0.0048	814	c.284 others(833): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(807): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	207	0.0048	814	c.284 others(833): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(807): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGG GGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	207	0.0048	814	c.284 others(833): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCT GGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15272534	C C	CATTACAA others(807): Show CATTACAAAACAGAGTGCCCGTAGGATAAAGACATTACAAAACAGAGTGC CTGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATA TTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCT GTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATATT ACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCCGT AGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTAC AAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAG GATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAA AACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGA TAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATATTACAAAA CAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATA AAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGA GTGCCCGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGA CATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGC CTGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAAAGACATA TTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCT GTAGGATAAAGACAT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	319	0.0031	814	c.331 others(831): Show c.331-2658_331-2657insATGTCTTTATCCTACAGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCC TACGGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTG TAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACG GGCACTCTGTTTTGTAATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT GTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCA CTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGT CTTTATCCTACGGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACT CTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCT TTATCCTACGGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCT GTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTT ATCCTACGGGCACTCTGTTTTGTAATGTCTTTATCCTACGGGCACTCTGT TTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTAT CCTACGGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTT TGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATATGTCTTTATCC TACGGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTG TAATGTCTTTATCCTACGGGCACTCTGTTTTGTAAT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(807): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATAT TATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	82	0.0122	814	c.12+ others(829): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
TCF3_chr19_1604292_1657615	1628702	G G	GGGGGTGA others(807): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAG CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGCGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG GTGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAACTCAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0017 a0001c0005t0024g0017	1	314	0.0032	814	c.299 others(831): Show c.299-1277_299-1276insGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC ACCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCG TGAGTTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT GTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCACTGGG others(807): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0215 a0002c0002t0024g0215	1	248	0.0040	814	c.189 others(829): Show c.189-794_189-793insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747573	A A	ACTGGGGT others(807): Show ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0036 a0002c0002t0013g0036	1	244	0.0041	814	c.189 others(829): Show c.189-740_189-739insTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(807): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCT GGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGAT TAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATGCCCC ATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATACCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCT GGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATACCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATC CCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCC ACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0130 a0002c0013t0002g0130	1	247	0.0040	814	c.141 others(833): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCA CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATACCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACC CCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTA ATACCCCATCACCCCTGGATTAATCCCCCCACCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(807): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCT GGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGAT TAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATGCCCC ATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCT GGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATACCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATC CCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCC ACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG01891.hp2 others(31): Show HG00280.hp1 HG00438.hp2 HG01891.hp2 HG02040.hp1 HG02083.hp1 HG02273.hp2 HG02683.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03834.hp1 NA18747.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18955.hp1 NA18965.hp1 NA18994.hp2 NA19056.hp1 NA19066.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0013	a0001c0043 a0002c0002 a0002c0006 others(8): Show a0001c0043 a0002c0002 a0002c0006 a0002c0009 a0002c0013 a0002c0016 a0002c0025 a0002c0034 a0002c0042 a0010c0055 a0013c0053	a0001c0043t0001 a0002c0002t0002 a0002c0002t0004 others(12): Show a0001c0043t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0006t0001 a0002c0006t0002 a0002c0009t0002 a0002c0013t0002 a0002c0016t0001 a0002c0016t0002 a0002c0025t0002 a0002c0034t0001 a0002c0042t0002 a0010c0055t0002 a0013c0053t0002	a0001c0043t0001g0332 a0002c0002t0002g0039 a0002c0002t0002g0131 others(31): Show a0001c0043t0001g0332 a0002c0002t0002g0039 a0002c0002t0002g0131 a0002c0002t0002g0150 a0002c0002t0002g0191 a0002c0002t0004g0043 a0002c0002t0004g0176 a0002c0002t0004g0177 a0002c0002t0005g0168 a0002c0006t0001g0011 a0002c0006t0001g0020 a0002c0006t0001g0209 a0002c0006t0002g0042 a0002c0006t0002g0136 a0002c0006t0002g0141 a0002c0006t0002g0144 a0002c0006t0002g0162 a0002c0006t0002g0164 a0002c0006t0002g0167 a0002c0009t0002g0175 a0002c0013t0002g0178 a0002c0013t0002g0179 a0002c0016t0001g0010 a0002c0016t0002g0082 a0002c0016t0002g0124 a0002c0016t0002g0230 a0002c0025t0002g0071 a0002c0025t0002g0075 a0002c0025t0002g0078 a0002c0034t0001g0238 a0002c0034t0001g0257 a0002c0042t0002g0115 a0010c0055t0002g0102 a0013c0053t0002g0123	34	280	0.1214	814	c.141 others(833): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCA CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACC CCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTA ATACCCCATCACCCCTGGATTAATCCCCCCACCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(807): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCT GGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGAT TAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATGCCCC ATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCT GGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATACCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATC TCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCC ACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02027.hp1 HG02080.hp1 others(3): Show HG00544.hp2 HG02027.hp1 HG02080.hp1 HG02083.hp2 NA19060.hp1 NA19079.hp1	a0002 a0002	a0002c0006 a0002c0022 a0002c0006 a0002c0022	a0002c0006t0002 a0002c0022t0002 a0002c0006t0002 a0002c0022t0002	a0002c0006t0002g0079 a0002c0006t0002g0138 a0002c0006t0002g0142 others(3): Show a0002c0006t0002g0079 a0002c0006t0002g0138 a0002c0006t0002g0142 a0002c0022t0002g0036 a0002c0022t0002g0077 a0002c0022t0002g0080	6	252	0.0238	814	c.141 others(833): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCA CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATGCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGAATTA ATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATCTCCCCATCACCCCTGGATTAATACCCCATCACC CCTGAATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTA ATACCCCATCACCCCTGGATTAATCCCCCCACCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC9_chr8_139722725_140462744	139755518	G G	GCAGGAGG others(807): Show GCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCAGGTCGCAGGCGGAGC CAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGCGTTTGGG GATGAGGACAGCAGGTCGCAGGAGCCAGGGATGGGGTTAAGGACAGCAGG TCGCAGGAGAAGCCAGGGATTGGGGATGAGGACAGCAGGTCGCAGGAGGA GCCAGGGATGGGGTATAAGGACAGCATGTCGCAGGAGGAGCCAGGATTGG GGATGAGGACAGCATGTCGCAGGAGAAGCCAGGGTTTGGGGATGAGGACA GCAGGTCGCAGGAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAG GAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGG GTTTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGATTGGGGATG AGGACAGCAGGTCGCAGGAGGAGCCAGGGTTTGAGGATGAGGACAGCAGG TCGCAGGAGGAGCCAGGGTTGGGGTATAAGGACAGCAGGTCGCAGGAGGA GCCAGGGATTGGGGATGAGGACAGCAGGTCGCAGGAGGAGCCAGGGTTTG GGGATGAGGACAGCAGGTCACAGGAGGAGCCAGGGTTGGGGTATAAGGAC AGCAGGTCGCAGGAGGAGCCAGGGATGGGGTATAAGGACAGCAGGTCGCA GGAGGAGCCAGGGTTTGGGGATGAGGACAGCAGGTCACAGGAGGAGCCAG GGATGGGGTATAAGGACAGCAGGTTGCAGGAGGAGCCAGGGATTGGGGAT GAGGACAGCAGGTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02723.hp2 HG02809.hp1 others(5): Show HG01255.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03225.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0020 a0004c0016	a0001c0001t0001 a0001c0002t0007 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0007 a0001c0003t0001 a0001c0004t0010 a0001c0009t0005 a0001c0020t0007 a0004c0016t0026	a0001c0001t0001g0067 a0001c0002t0007g0022 a0001c0003t0001g0052 others(5): Show a0001c0001t0001g0067 a0001c0002t0007g0022 a0001c0003t0001g0052 a0001c0004t0010g0089 a0001c0004t0010g0090 a0001c0009t0005g0010 a0001c0020t0007g0030 a0004c0016t0026g0069	8	96	0.0833	814	c.305 others(835): Show c.3056-23317_3056-23316insGGACCTGCTGTCCTCATCCCCAAT CCCTGGCTCCTCCTGCAACCTGCTGTCCTTATACCCCATCCCTGGCTCCT CCTGTGACCTGCTGTCCTCATCCCCAAACCCTGGCTCCTCCTGCGACCTG CTGTCCTTATACCCCATCCCTGGCTCCTCCTGCGACCTGCTGTCCTTATA CCCCAACCCTGGCTCCTCCTGTGACCTGCTGTCCTCATCCCCAAACCCTG GCTCCTCCTGCGACCTGCTGTCCTCATCCCCAATCCCTGGCTCCTCCTGC GACCTGCTGTCCTTATACCCCAACCCTGGCTCCTCCTGCGACCTGCTGTC CTCATCCTCAAACCCTGGCTCCTCCTGCGACCTGCTGTCCTCATCCCCAA TCCCTGGCTCCTCCTGCGACCTGCTGTCCTCATCCCCAAACCCTGGCTCC TCCTGCGACCTGCTGTCCTCATCCCCAAACCCTGGCTCCTCCTGCGACCT GCTGTCCTCATCCCCAAACCCTGGCTCCTCCTGCGACCTGCTGTCCTCAT CCCCAAACCCTGGCTTCTCCTGCGACATGCTGTCCTCATCCCCAATCCTG GCTCCTCCTGCGACATGCTGTCCTTATACCCCATCCCTGGCTCCTCCTGC GACCTGCTGTCCTCATCCCCAATCCCTGGCTTCTCCTGCGACCTGCTGTC CTTAACCCCATCCCTGGCTCCTGCGACCTGCTGTCCTCATCCCCAAACGC TGGCTCCTCCTGCGACCTGCTGTCCTCATCCCCAAACCCTGGCTCCGCCT GCGACCTGCTGTCCTTATACCCCATCCCTGGCTCCTCCTG	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870794	A A	ACACACAC others(807): Show ACACACACCACACCCCACACACACCACACCCCACACACCCCACACACACC ACACACCCCACACACACCACACACACCACACACCCCACACACACCACACA CACCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACACCACACCCCACACACACCACACACACCACAGC CCACACACACCACACACACCACACCCCACACACACCACACACACCACACC CCACACACACCACACCCCACACACCCCACACACACCACACACCCCACACA CACCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACACACCGCACCCCACACACACCACACCCCACACACCCCA CACACACCACACACCCCACACACCCCCCACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCACACACACACCACACACACATCACAT ACCACACACAAACCACACACCACACACACACCACACACCCTACACACCCC ACACACACCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01981.hp2 HG02040.hp2 others(3): Show HG01346.hp1 HG01981.hp2 HG02040.hp2 HG02071.hp1 HG02155.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0151 a0001c0001t0001g0268 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0151 a0001c0001t0001g0268 a0001c0001t0002g0271 a0001c0001t0002g0286 a0001c0001t0002g0290	6	321	0.0187	814	c.35 others(833): Show c.35+22066_*35+22067insACCACACCCCACACACACCACACCCC ACACACCCCACACACACCACACACCCCACACACACCACACACACCACACA CCCCACACACACCACACACACCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACACCACACCCCACACA CACCACACACACCACAGCCCACACACACCACACACACCACACCCCACACA CACCACACACACCACACCCCACACACACCACACCCCACACACCCCACACA CACCACACACCCCACACACACCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACACACCGCACCCCACACACAC CACACCCCACACACCCCACACACACCACACACCCCACACACCCCCCACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACACCACACACAC ACCACACACACATCACATACCACACACAAACCACACACCACACACACACC ACACACCCTACACACCCCACACACACCACACACACCACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(807): Show ACACACACCACACACCCCACACACACCACACCCCATACACACCACACACC CCACACACCACACACACACATCACATACCACACACACATCACATACCACA CACACATCACATACCACACACACACCACACACACACCACACACCCCACAC ACACATCACATACCACACACAAACCACACACCCTACACACACCACACACC CCACACACACATCACACACCACACACACCACACACACCCCACACACACCA CACACACACATCACATACCACACACCCGACACACGCCACACACACACCAC ACACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACA CACCACACACCCCACACACACCACACACACACACCACACACACATCACAT ACCACACACAAACCACACACCCAACACACACATCACACACCACACACCCC ACACACACATCACATACCACACACAAACCACACACCCCACACACACATCA CATACCACACACAAACCACACACCCCCACACACCCCACACACCCCACACA CACCACACACCCCACACACACACCACACACCCCACACACACATCACATAC CACACACAAACCACACACCCCACACACCCCACACACCACACACACACCAC ACACACATCACATACCACACACAAACCACACACCCTACACACACCACACA CCCCACACACACCACACACCCGACACACGCCACACACACACCACACACCC CACGCACACATCACATACCACACACAAACCACACACCCTACACACCCCAC ACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	35	0.0286	814	c.35 others(833): Show c.35+22439_*35+22440insCACACCCCATACACACCACACACCCC ACACACCACACACACACATCACATACCACACACACATCACATACCACACA CACATCACATACCACACACACACCACACACACACCACACACCCCACACAC ACATCACATACCACACACAAACCACACACCCTACACACACCACACACCCC ACACACACATCACACACCACACACACCACACACACCCCACACACACCACA CACACACATCACATACCACACACCCGACACACGCCACACACACACCACAC ACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACA CCACACACCCCACACACACCACACACACACACCACACACACATCACATAC CACACACAAACCACACACCCAACACACACATCACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACA CCACACACCCCACACACACACCACACACCCCACACACACATCACATACCA CACACAAACCACACACCCCACACACCCCACACACCACACACACACCACAC ACACATCACATACCACACACAAACCACACACCCTACACACACCACACACC CCACACACACCACACACCCGACACACGCCACACACACACCACACACCCCA CGCACACATCACATACCACACACAAACCACACACCCTACACACCCCACAC ACCCCACACACACCACACACCACACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(807): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAA ACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATA TTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0092 a0001c0001t0010g0092	1	24	0.0417	814	c.82+ others(829): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATA TATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATT TATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATA TATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAA TATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTA TAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTA TAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAG TTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(807): Show CCTCCTCTGTCCTCCCCTCCCCTCCTCTCTCCTCCTCTCTCCTCCCTTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCT CCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCT CCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCC CTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCG CTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCG CTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCC CTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCC CTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCC CTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCC CTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCC CTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTC CTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03579.hp1 others(3): Show HG01891.hp2 HG02922.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0003 a0001c0004t0004g0134 a0001c0004t0004g0003 a0001c0004t0004g0134	6	7	0.8571	814	c.53 others(825): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGA GGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAAGGGAGGAGAGAGGAG GAGAGAGGAGGGGAGGGGAGGACAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
YBEY_chr21_46281342_46302751	46292712	G G	GACTCTAG others(807): Show GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT GAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTGA GTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGT GGAGTCGGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGTGGTTAG CCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAG TCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTC AGCCACACAAGTTAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20129.hp2 HG01243.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0186 a0001c0001t0003g0151 a0001c0001t0003g0186	2	257	0.0078	814	c.339 others(831): Show c.339+1287_339+1288insATGCCCGGGACTGAGTGGGGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCGGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCATGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAATCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293794	G G	GACTCAGT others(807): Show GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	401	0.0025	814	c.339 others(831): Show c.339+2341_339+2342insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGAACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293880	A A	ACAGCCAC others(807): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGTCAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0207 a0001c0001t0004g0207	1	296	0.0034	814	c.340 others(831): Show c.340-2267_340-2266insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAATCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGTCAGCCACACAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294008	G G	GTGCCCGG others(807): Show GTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCTTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGT GGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	325	0.0031	814	c.340 others(831): Show c.340-2147_340-2146insAAGTGAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCTTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGTGGTTAGCCTGACCCATGCCCGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294250	T T	TCAGCCAC others(807): Show TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGACAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	240	0.0042	814	c.340 others(831): Show c.340-1905_340-1904insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGT GAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294250	T T	TCAGCCAC others(807): Show TCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	240	0.0042	814	c.340 others(831): Show c.340-1841_340-1840insGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294250	T T	TCAGCCAC others(807): Show TCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	240	0.0042	814	c.340 others(831): Show c.340-1841_340-1840insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294398	A A	ACAGCCAC others(807): Show ACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	287	0.0035	814	c.340 others(831): Show c.340-1757_340-1756insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294406	A A	ACAAGTTA others(807): Show ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG AAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	257	0.0039	814	c.340 others(831): Show c.340-1712_340-1711insTGTGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACA CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCG GGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAG TTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(807): Show AGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCG GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0363 a0001c0001t0003g0363	1	274	0.0036	814	c.340 others(831): Show c.340-1471_340-1470insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGAAGTGAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGAAGTGAGTGGAGTCGGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(807): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACA CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCC CGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	198	0.0051	814	c.340 others(831): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(807): Show GTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCA TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACA CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCC CGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0052	1	198	0.0051	814	c.340 others(831): Show c.340-1461_340-1460insGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCC2_chr10_99777640_99857594	99838928	T T	TCCCGGAC others(808): Show TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGG CCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCT CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0310 a0002c0003t0001g0310	1	125	0.0080	815	c.361 others(834): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGC CGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCAGACCCCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP3_chr1_1287391_1312930	1288923	C C	CCGTGTCT others(808): Show CCGTGTCTCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCGTCCCG TGTCTCTGCTCCGTCCCCCGTGACTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCGTGTCTCTGCTCCGTCCCCGTGTCTC TGCTCCTCCGTGTCTCTGCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTGCTCCGCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCTCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTTCCGTCCCCCG TGTCCCTGCCCCGTCCCCCGTGTCCCTGCTCCGTCCGTGTCTCTGCCCGT CCCCGTGTCCCCTGCTCCGTCCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCCGTGTCTCTGCTCTCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	275	0.0036	815	c.46 others(826): Show c.4640_*4641insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGAGAGCAGAGACACGGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGGACGGAGCAGAGACACGGGACGGAGC AGGGACACGGGGACGGAGCAGGGGACACGGGGACGGGCAGAGACACGGAC GGAGCAGGGACACGGGGGACGGGGCAGGGACACGGGGGACGGAAGCAGAG ACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGG GCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGAGG GGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGA CACGGGACGGAGCAGGGACACGGGCGGAGCAGACACGGGGGACGGAGCAG AGACACGGGACGGGCAGAGACACGGAGGAGCAGAGACACGGGGACGGAGC AGAGACACGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGTCACGGGGGACGGAGCAGAGACACGGGACGAGCAGGGACAC GGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAG ACCACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3467		chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113419002	T T	TCCTTCCT others(808): Show TCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCC TTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCC TTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTC CTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTC TTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTC CCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	82	0.0122	815	c.106 others(834): Show c.1061+3823_1061+3824insGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGG AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAAAGAAGG AAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAAAAGAAGGAAGGGGAGGGGAAGGGGAAGAAAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAA GGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA AAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGA AGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAA GGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CCGTGACC others(808): Show CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACC ACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGA CCATTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGC AGTGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCA CCCCGTGACCACGCACTGGCGGTGAGCACTTCCCACCCCCGTGACCACAC ACCAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGCGACCATTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGC GAGCACTTCCCACCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCC CGTGACCACACATTTACAGTGAGCACTTCCCAACCCCGTGACCACATACT AGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGACCATTT CCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGAC CACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTG AGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	209	0.0048	815	c.-21 others(826): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG TGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTATGTGGTCACGGGGT TGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACT GCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCA CGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAATGG TCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGT GGTCACGGGGGTGGGAAGTGCTCACTGCTGGTGTGTGGTCACGGGGGTGG GAAGTGCTCACCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCC AGTGCGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGG GGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAG TGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(808): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGCACGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACC CCTCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	2	0.5000	815	c.-14 others(830): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGCACGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGC CAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(808): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACC CCTCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	2	0.5000	815	c.-14 others(830): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGC CAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(808): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACC CCTCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	2	0.5000	815	c.-14 others(830): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGC CAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(808): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCAGACGGCACGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACC CCTCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	2	0.5000	815	c.-14 others(830): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGCACGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGC CAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(808): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACC CCTCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	2	0.5000	815	c.-14 others(830): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGC CAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3037056	T T	TTATATAT others(808): Show TTATATATAATATTATATATAATATATATAATATATAATTATATAATAAA ATATATATAATATATATATTATATATATTATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAT TATATATAAAATATATATAATATATATAATATATATATTATATATAAAAT ATATATAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATAAAATATATATAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATAAAATATATATAATATATATA ATATATATAATATATATAAAATATATATAATATATATAATATATATAATA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TAATATATATATTATATATAAAATATATATCATATATATAATATATATAT TATATATAAAATATATATCATATATATAATATATATATTATATATAAAAT ATATATCATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATTATA TATAAAATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	218	0.0046	815	c.36 others(826): Show c.3671_*3672insTATATATAATATTATATATAATATATATAATATA TAATTATATAATAAAATATATATAATATATATATTATATATATTATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATAAAATATATATAATATATATAATATATA TATTATATATAAAATATATATAATATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATAAAATATATATAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATAAAATA TATATAATATATATAATATATATAATATATATAAAATATATATAATATAT ATAATATATATAATATATATAAAATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATAATATATATATTATATATAAAA TATATATAATATATATAATATATATATTATATATAAAATATATATCATAT ATATAATATATATATTATATATAAAATATATATCATATATATAATATATA TATTATATATAAAATATATATCATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATAAT ATATATAATATTATATATAAAATATATATAA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2946		chrX	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(808): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCC CACCTCCCTCCCGGACGGGGCGGCTGTCCAGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0259 a0001c0001t0002g0199 a0001c0001t0002g0259	2	95	0.0211	815	c.207 others(836): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCAGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(808): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCC CACCTCCCTCCCGGACGGGGCGGCTGTCCAGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp2 HG02572.hp2 HG03139.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0019 a0006c0010t0001 a0001c0001t0019 a0006c0010t0001	a0001c0001t0019g0130 a0006c0010t0001g0262 a0001c0001t0019g0130 a0006c0010t0001g0262	2	95	0.0211	815	c.207 others(836): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCAGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(808): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCC CACCTCCCTCCCGGACGGGGCGGCTGTCCAGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0205 a0001c0001t0019g0205	1	94	0.0106	815	c.207 others(836): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCAGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCAACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(808): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCC CACCTCCCTCCCGGATGGGGCGGCTGTCCAGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCT GGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18906.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0014 a0001c0001t0006 a0001c0002t0014	a0001c0001t0006g0192 a0001c0002t0014g0191 a0001c0001t0006g0192 a0001c0002t0014g0191	2	95	0.0211	815	c.207 others(836): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGATGGGGCGGCTGTCCAGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(808): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGGTGATGA TGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGATGGTGA TGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGTGATGATGGTGATGATATGATGGTGATGATATTGATGGTGA TGAATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGGT GATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATGGTGA TGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGATGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGAT GATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGACGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGAG ATGGAGATGTTGGTGATGATGGTGATGGTGGTGATGATGTGATGGTAATG GTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	196	0.0051	815	c.963 others(832): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCTCCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCGTCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCACCATCATC ACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC CATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCA TCACCATCACATCATCACCATCACCATCATCACCATCATCACCATCATCA ACATCATCACCATCACCATCATAACTATCACCATCATCACCATCATCACC ATCACATCATCACCATCACCATCATCACCATCAATTCATCACCATCAATA TCATCACCATCATATCATCACCATCATCACATCACCATCATCACCATCAC CATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCATCA GCATCACCATCACCACCACATCATCATCACCATCACCATCATCACCATTA CCATCACATCACCATCATCATCACCACCATCACCATCATCACCATCACCA TCATCACCATCACCATCATCATCACCATCACATCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACTATCATCACCATCACCATCATC ACCATCATCACCATCATCAACATCATCACCATCATCACCATCACCATCAT CACCATCATCACCATCACATCATCACCGTCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(808): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	243	0.0041	815	c.666 others(830): Show c.666+224_666+225insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(808): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	218	0.0046	815	c.666 others(830): Show c.666+360_666+361insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCAGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC TCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDON_chr11_125951821_126067866	126065127	G G	GTGATAGT others(808): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGG TAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGG TAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATGATAGTATT AAGAGGTGATGATAGTATTAAGAGGTGATGATAGTATTAAGAGGTGATGA TAGTATTAAGAGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0007 a0008c0008t0007	a0008c0008t0007g0139 a0008c0008t0007g0139	1	329	0.0030	815	c.-26 others(826): Show c.-2611_-2610insTCACCTCTTAATACTATCATCACCTCTTAATACT ATCATCACCTCTTAATACTATCATCACCTCTTAATACTATCATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2262		chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(808): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTC TGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	38	0.0263	815	c.248 others(832): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGA TGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP61_chr20_20047532_20365698	20357063	A A	AGTGGTCA others(808): Show AGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACT GTGAGTGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGCGAGTGG AGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCAC ACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGA AGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp2 HG02922.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0083 a0002c0002t0007g0018 a0002c0002t0003g0083 a0002c0002t0007g0018	2	93	0.0215	815	c.351 others(834): Show c.3514-3133_3514-3132insGGGAGGTGGTCACACTGAGGGGAGGT GGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATAC TGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGA GGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACT GTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CREB3L4_chr1_153962902_153979359	153970912	T T	TTTTGTAT others(808): Show TTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTC TTGAACTCCTGACCTTGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGTGCCCGGCCCAACATGAACAATTTTAAAA GCAGGGAAGGACAAGGGAGAAAGAACCCTTGGGGGTAAGGTAGCAAAAAC TCAGTTAAGGTGGGGTGAGGGAATCTGGGGACAGGGCTCAGGAGAAAGCC CAGACTTTGCATGCATTGTATTCTTAGCCAGAGCCATTATCTCAGCCTTG GGTCAGGACACAGAAATGGGACAGGCCACCTGGGAATCCCAACTGGTTAT AGGTACAGGAAGAAAGAAAAGCAATAGCAGCAATGTTTCCACTGGAACAG TTGCCCAGGAGGCACCCACTGGCTAGTGCTACAGTGTAGCAGAGGTATCA CATTAGATGCCTTCTCAAGGCCGTCTGGGCAGCGTCCAAGGCTGGGTAAA GAGGGGGCTATGCTCAGATCACTGTTCCTCCCTTTCCTCTGAAAATTACT CCTTGTACCCAAAAGGCAGGGACCAGGTCCTAGCCTCTCTTCAAATCTGC AGTTGAAGCTGGGACCAGAAGCCAAGCTAAGCATCTTAGAATCTTTTTTT TTTTTTTTTTTTTTTTTTTAGACAGAGTCTCGCTCTGTCACCAGACTGGA GTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTTCCAGGTTCAA GCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGACAACAAGTGTGCGC CTCCAAGCCTGGCTAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0017 a0008c0010t0002g0017	1	392	0.0026	815	c.543 others(832): Show c.543+1460_543+1461insGTATTTTTAGTAGAGATGGGGTTTCACC ATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCTGCCTC TGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCA ACATGAACAATTTTAAAAGCAGGGAAGGACAAGGGAGAAAGAACCCTTGG GGGTAAGGTAGCAAAAACTCAGTTAAGGTGGGGTGAGGGAATCTGGGGAC AGGGCTCAGGAGAAAGCCCAGACTTTGCATGCATTGTATTCTTAGCCAGA GCCATTATCTCAGCCTTGGGTCAGGACACAGAAATGGGACAGGCCACCTG GGAATCCCAACTGGTTATAGGTACAGGAAGAAAGAAAAGCAATAGCAGCA ATGTTTCCACTGGAACAGTTGCCCAGGAGGCACCCACTGGCTAGTGCTAC AGTGTAGCAGAGGTATCACATTAGATGCCTTCTCAAGGCCGTCTGGGCAG CGTCCAAGGCTGGGTAAAGAGGGGGCTATGCTCAGATCACTGTTCCTCCC TTTCCTCTGAAAATTACTCCTTGTACCCAAAAGGCAGGGACCAGGTCCTA GCCTCTCTTCAAATCTGCAGTTGAAGCTGGGACCAGAAGCCAAGCTAAGC ATCTTAGAATCTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCG CTCTGTCACCAGACTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACC TCTGCCTTCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCTGAGTAGCT GGGACAACAAGTGTGCGCCTCCAAGCCTGGCTAATTT	CREB3L4	ENSG00000143578.16	transcript	ENST00000368607.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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