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
RIMBP2_chr12_130391133_130721299	130483273	G G	GGGGGCAG others(427): Show GGGGGCAGACCTCATCCAAATACACCCACTGTGTGTGTACATGTGTCAGA TTCTGCAGGGGAGGGGGCACACCTCATCCAAATACACCCATTGTGTGTGT ACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCCAATACACC CATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCA TCCCAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGG GGGCAGACCTCATCCAAATACACCCACTGTGTGTGTACATGTGTCAGATT CTGCAGGGGAGGGGGCAGACCTCATCCAAATACACCCACTGTGTGTGTAC ATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAGATATACCGA TTGTGTGTGTACATGTGTCACATTCTGCAGGGGAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0014 a0014	a0014c0050 a0014c0050	a0014c0050t0001 a0014c0050t0001	a0014c0050t0001g0104 a0014c0050t0001g0104	1	180	0.0056	434	c.-3- others(449): Show c.-3-4258_-3-4257insATCCCCTGCAGAATGTGACACATGTACACA CACAATCGGTATATCTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGA CACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCCCC TGCAGAATCTGACACATGTACACACACAGTGGGTGTATTTGGATGAGGTC TGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTAT TGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACA CAATGGGTGTATTGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACA CATGTACACACACAATGGGTGTATTTGGATGAGGTGTGCCCCCTCCCCTG CAGAATCTGACACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTG CCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130483273	G G	GGGGGCAG others(427): Show GGGGGCAGACCTCATCCAATTACACCCATTGTGTGTGTACATGTGTCAGA TTCTGCAGGGGAGGGGGCAGACCTCATCCAAATACACCCACTGTGTGTGT ACATGTGTCAGATTCTGCAGGGGAGGGGGCACACCTCATCCAAATACACC CATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCA TCCCAATACACCCATTGTGTGTGTACATGTGTCAGATTCTGCAGGGGAGG GGGCAGACCTCATCCCAATACACCCATTGTGTGTGTACATGTGTCAGATT CTGCAGGGGAGGGGGCAGACCTCATCCAAATACACCCACTGTGTGTGTAC ATGTGTCAGATTCTGCAGGGGAGGGGGCAGACCTCATCCAGATATACCGA TTGTGTGTGTACATGTGTCACATTCTGCAGGGGAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0135 a0002c0016t0001g0135	1	180	0.0056	434	c.-3- others(449): Show c.-3-4258_-3-4257insATCCCCTGCAGAATGTGACACATGTACACA CACAATCGGTATATCTGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGA CACATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCCCC TGCAGAATCTGACACATGTACACACACAATGGGTGTATTGGGATGAGGTC TGCCCCCTCCCCTGCAGAATCTGACACATGTACACACACAATGGGTGTAT TGGGATGAGGTCTGCCCCCTCCCCTGCAGAATCTGACACATGTACACACA CAATGGGTGTATTTGGATGAGGTGTGCCCCCTCCCCTGCAGAATCTGACA CATGTACACACACAGTGGGTGTATTTGGATGAGGTCTGCCCCCTCCCCTG CAGAATCTGACACATGTACACACACAATGGGTGTAATTGGATGAGGTCTG CCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RNF139_chr8_124469880_124493618	124483108	T T	TATTATTT others(427): Show TATTATTTAAATATATATATATTTAAAAATATATATATTAAAAATATATA TATTTAAATATATATATTTTTAAATATGTATATTTAAATTATATAATTTA AATATATATTAATATACATATTTTAATATATATAATTTAATATATATCTT TAAATATATATAAATATATATTTAAATATATATATTTAAATATATATTAA TATATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATA TTAATATATATTTAAATTATATAATTTAAATATACATATTTAAAAATATA TATATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATAT ATTTATATATATATTTATATATATATATTTATATATATATTTTTATATAT ATATATTTATATATATATTTTTAAATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0166 a0001c0008t0001g0166	1	408	0.0025	434	c.182 others(451): Show c.182-2723_182-2722insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATTTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATAAATATATATTTAAATAT ATATATTTAAATATATATTAATATATATATTTAAAGATATATATTAAATT ATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTAA ATATACATATTTAAAAATATATATATTTAAATATATATATTTTTAATATA TATATTTTTAAATATATATATATTTATATATATATTTATATATATATATT TATATATATATTTTTATATATATATATTTATATATATATTTTTAAATATA TATATA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RTN1_chr14_59590983_59875776	59750589	A A	AATATATC others(427): Show AATATATCTATAATATATATATTATATCTATAATATATAATATATCTATA ATATATATATTATATCTATAATATATAATATATCTATAATATATATATTA TATCTATAATATATAATATATCTATAATATATATATTATATCTATAATAT ATAATATATCTATAATATATATATTATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATATATTATATATATAATATATAATA TATTATATATAATATATAATATATTATATCTATAATATATTATATGTAAT ATATATATGTTATATCTATAATATATATTATATCTATAATATATAATATA TTATATCTATAAATATAATATATTATATCTATAATATATAATATATTATA TCTATAATATATAATATATATATTATATCTATAAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0030 a0006c0005t0001g0030	1	172	0.0058	434	c.242 others(451): Show c.242-4109_242-4108insATTATAGATATAATATATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATTATATTTATA GATATAATATATTATATATTATAGATATAATATATATTATAGATATAACA TATATATATTACATATAATATATTATAGATATAATATATTATATATTATA TATAATATATTATATATTATATATATAATATATATATTATAGATATATTA TATATTATAGATATATTATATATTATAGATATAATATATATATTATAGAT ATATTATATATTATAGATATAATATATATATTATAGATATATTATATATT ATAGATATAATATATATATTATAGATATATTATATATTATAGATATAATA TATATATTATAGATATATTATATATTATAGATATAATATATATATTATAG ATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SCGB1C1_chr11_188078_199575	194639	G G	GGGGCCAC others(427): Show GGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGG AGCACACGTGCAAAAGTCCCCACAGAGGGACACACAAATGGGGACATCAG GAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCTAC TCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGACACACAAATGGGGA CATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGA TCCCACTCAAGGAGCACATGTGCGAAAGTCCACCACAGAGGGACACACAA ATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCTACTCAAGGAGCACACGTGCGAAAGTCCCCCACAGA GGGACACACAAATGGGGACATCAGGAACACACTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	354	0.0028	434	c.18 others(443): Show c.189_*190insGGGCCACAGCCACACACACAGACCCACATACAGAGG ATCCCACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGACACACAA ATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCTACTCAAGGAGCACACGTGCAAAAGTCCCCACAGAGGGAC ACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACC CACATACAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCACCACA GAGGGACACACAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCAC ACACACAGACCCACATACAGAGGATCCTACTCAAGGAGCACACGTGCGAA AGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		65		chr11	TogoVar
SCGB1C1_chr11_188078_199575	194833	A A	ATGGGGAC others(427): Show ATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCA CATACAGAGGATCCTACTCAAGGAGCACACGTGCGAAAGTCCCCCACAGA GGGACACACAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACAC ACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCAAAAG TCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGGGCCACAG CCACACACACAGACCCACATACAGAGGATCCTACTCAAGGAGCACACGTG CGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGG GCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGC ACATGTGCGAAAGTCCCCACAGAGGGGCACACAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	354	0.0028	434	c.38 others(443): Show c.383_*384insTGGGGACATCAGGAACACACTCAGGGCCACAGCCAC ACACACAGACCCACATACAGAGGATCCTACTCAAGGAGCACACGTGCGAA AGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCAGG GCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGC ACACGTGCAAAAGTCCCCACAGAGGGACACACAAATGGGGACATCAGGAA CACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCTACTCA AGGAGCACACGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACA TCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATC CCACTCAAGGAGCACATGTGCGAAAGTCCCCACAGAGGGGCACACAAG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		259		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289471	C C	CCGTGTCT others(427): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0114 a0002c0003t0004g0114	1	290	0.0035	434	c.166 others(451): Show c.1663-799_1663-798insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	401197	C C	CGCCCCGC others(427): Show CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACAC CCGACCCGCTCACCCCCGGCCCCGCTCACACCCGACCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	242	0.0041	434	c.46 others(445): Show c.4698_*4699insCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGG GGCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGTCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGT GTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTG AGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4518		chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(427): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATATTCTATAATATATAATATGTTA TATATTATAGAATATAATATATAATATGTTATATATTATAGAATATAATA TATAATATGTTATATATTATAGAATATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0271 a0001c0001t0011g0271	1	340	0.0029	434	c.17 others(453): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA CATATTATATATTATATTCTATAATATATAACATATTATATATTATATTC TATAATATATAACATATTATATATTATAGAATATAATATATAATATATTA TATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATATTCTATAATATATAATATATTATATATTATAGAATA TAATATATAATATATTATATATTATAGAATATAATATATAACATAATATA TATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(427): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATAGAATATAATATATAATATGTTATATATTATAGAA TATAATATATAATATGTTATATATTATAGAATATAATATATAATATGTTA TATATTATAGAATATAATATATAATATGTTATATATTATAGAATATAATA TATAATATGTTATATATTATAGAATATAATATATAATATGTTATATATTA TAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0273 a0001c0001t0008g0273	1	340	0.0029	434	c.17 others(453): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAACATATTATATATTATATTCTATAATATATAA CATATTATATATTATATTCTATAATATATAACATATTATATATTATATTC TATAATATATAACATATTATATATTATATTCTATAATATATAACATATTA TATATTATATTCTATAATATATAACATATTATATATTATATTCTATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATATTCTATAATATATAATATATTATATATTATAGAATA TAATATATAATATATTATATATTATAGAATATAATATATAACATAATATA TATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(427): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATATTATGT TATATATTATATTCTATAATATATAATATATTATATATTATATTCTATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	340	0.0029	434	c.17 others(453): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATA TATAATATATTATATATTATATTCTATAATATATAATATATTATATATTA TATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATAGAATATAATATATAATATATTATATATTATAGAATA TAATATATAACATAATATATATTATAGAATATAATATATAACATAATATA TATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246251818	G G	GCGGACAC others(427): Show GCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCT TTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTACGTGCCTCGGACA CTGCGCCCGGCTTTAGTAGGTGCCTCGGACACTGCGCCCGGCTTTAGTAG GTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCC CGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCTC GGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTT AGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACT GTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGT GCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG02965.hp1 others(2): Show HG01243.hp2 HG02622.hp2 HG02965.hp1 HG02970.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001	a0002c0003t0001g0133 a0002c0003t0002g0116 a0002c0003t0002g0145 others(2): Show a0002c0003t0001g0133 a0002c0003t0002g0116 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0004t0001g0113	5	150	0.0333	434	c.531 others(453): Show c.531+75382_531+75383insAGGCACCTACTAAAGCCGGGCACAGT GTCCGCGGCACCTACTAAAGCCGGGCACAGTGTCCGAGGCACCTACTAAA GCCGGGCACAGTGTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCCGCG GCACCTACTAAAGCCGGGCACAGTGTCCGAGGCACCTACTAAAGCCGGGC ACAGTGTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCCGAGGCACCTA CTAAAGCCGGGCACAGTGTCCGAGGCACCTACTAAAGCCGGGCACAGTGT CCGAGGCACCTACTAAAGCCGGGCGCAGTGTCCGAGGCACCTACTAAAGC CGGGCGCAGTGTCCGAGGCACGTACTAAAGCCGGGCACAGTGTCCGAGGC ACCTACTAAAGCCGGGCACAGTGTCCGCGGCACCTACTAAAGCCGGGCAC AGTGTCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(427): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0286 a0001c0001t0006g0286	1	356	0.0028	434	c.-11 others(455): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SRXN1_chr20_641615_658200	642261	G G	GGGGGGGG others(427): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCCGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	422	0.0024	434	c.64 others(445): Show c.6452_*6453insGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCGGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4353		chr20	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(427): Show GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0081 a0001c0001t0005g0091 a0001c0001t0005g0081 a0001c0001t0005g0091	2	268	0.0075	434	c.75 others(445): Show c.7501_*7502insATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(427): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02056.hp2 NA18983.hp2 HG00558.hp2 HG02056.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0224 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0224 a0001c0001t0006g0255 a0001c0001t0006g0256	3	268	0.0112	434	c.75 others(445): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SWAP70_chr11_9659077_9757993	9706301	A A	ACACTGGT others(427): Show ACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGT ATGCACTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTG TGTACACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATC TGTGTACACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGA TCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTACACTTTG TGATCTGTATGCACTGGTGATCTGTGTACACTTGGTGATCTGTATGCACT GGTGATCTGTATACACTGGTGATCTGTATACACTTGGTGATCTGTATACA CTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CACTGGTGATCTGTGTATACTTGGTGATCTGTATG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18945.hp1 NA18969.hp1 NA18944.hp1 NA18945.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0123 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0123	3	294	0.0102	434	c.241 others(451): Show c.241-7114_241-7113insGCACTGGTGATCTGTATACACTGGTGAT CTGTATACACTGGTGATCTGTGTACACTTGGTGATCTGTATACACTGGTG ATCTGTATACACTGGTGATCTGTGTACACTTGGTGATCTGTATACACTGG TGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACT GGTGATCTGTGTACACTTTGTGATCTGTATGCACTGGTGATCTGTGTACA CTTGGTGATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTATA CACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTG TATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCT GTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGAT CTGTAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(427): Show ACCCCAGAGAAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACCAAACCCACACCCTACCAGAGAGGAGACACCAAAACCCAC ATCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	314	0.0032	434	c.309 others(453): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTT CTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(427): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCAGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACCAAACCCACACCCTACCAGAGAGGAGACACCAAAACCCAC ATCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0181 a0001c0004t0001g0181	1	314	0.0032	434	c.309 others(453): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCTGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTC CTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(427): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAAACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACCAAACCCACACCCTACCAGAGAGGAGACACCAAAACCCAC ATCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	314	0.0032	434	c.309 others(453): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTC CTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(427): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACCAAACCCACACCCTACCAGAGAGGAGACACCAAAACCCAC ATCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(211): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0010	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0014 a0001c0015 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0002c0007 a0002c0020 a0002c0021 a0005c0011 a0006c0012 a0010c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0010t0001 a0001c0014t0001 a0001c0015t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0001c0028t0001 a0001c0029t0001 a0001c0030t0001 a0001c0032t0001 a0002c0007t0001 a0002c0020t0001 a0002c0021t0001 a0005c0011t0001 a0006c0012t0001 a0010c0017t0008	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(211): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0004g0078 a0001c0001t0004g0086 a0001c0001t0010g0051 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0006g0255 a0001c0002t0009g0233 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0061 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0122 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0185 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0001g0191 a0001c0004t0001g0192 a0001c0004t0001g0194 a0001c0004t0001g0195 a0001c0004t0001g0196 a0001c0004t0001g0197 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0213 a0001c0005t0001g0214 a0001c0005t0001g0215 a0001c0005t0001g0216 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0221 a0001c0005t0002g0205 a0001c0005t0002g0206 a0001c0005t0002g0207 a0001c0005t0002g0208 a0001c0008t0001g0021 a0001c0008t0001g0022 a0001c0008t0001g0023 a0001c0008t0001g0024 a0001c0008t0001g0025 a0001c0008t0001g0026 a0001c0010t0001g0198 a0001c0010t0001g0199 a0001c0010t0001g0200 a0001c0010t0001g0201 a0001c0014t0001g0244 a0001c0014t0001g0245 a0001c0015t0001g0241 a0001c0024t0001g0176 a0001c0025t0001g0202 a0001c0026t0001g0204 a0001c0027t0001g0203 a0001c0028t0001g0238 a0001c0029t0001g0226 a0001c0030t0001g0292 a0001c0032t0001g0304 a0002c0007t0001g0011 a0002c0007t0001g0012 a0002c0020t0001g0013 a0002c0021t0001g0019 a0005c0011t0001g0001 a0005c0011t0001g0002 a0005c0011t0001g0003 a0006c0012t0001g0308 a0006c0012t0001g0309 a0006c0012t0001g0310 a0010c0017t0008g0004	214	314	0.6815	434	c.309 others(453): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTC CTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(427): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACTCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACCAAACCCACACCCTACCAGAGAGGAAACACCAAAACCCAC ATCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02258.hp1 HG02451.hp1 others(7): Show HG00738.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03139.hp1 HG03834.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0001 a0001c0001t0001 a0001c0023t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(7): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0108 a0001c0023t0001g0027	10	314	0.0319	434	c.309 others(453): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTTTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGAGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTC CTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(427): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCTACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACCAAACCCACACCCTACCAGAGAGGAGACACCAAAACCCAC ATCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18971.hp1 NA19080.hp1 NA18949.hp1 NA18971.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0227 a0001c0002t0001g0242 a0001c0002t0001g0243	3	314	0.0096	434	c.309 others(453): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTAGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTC CTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(427): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACATCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACCAAACCCACACCCTACCAGAGAGGAGACACCAAAACCCAC ATCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp2 HG02109.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0123 a0001c0003t0005g0124 a0001c0003t0005g0123 a0001c0003t0005g0124	2	314	0.0064	434	c.309 others(453): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGG TGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGG GTGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGG GTTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGG TGGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGT TTTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGATGTTTCCTCTCAGGT GGGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTC CTCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46772244	T T	TACACATA others(427): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACACACATATATATGTATACACACACACATATATATGTA TACACACACACATATATGTATACACACACACATATATGTATACACACATA CATATATATGTATACACACATACATATATATGTATACACACATACATATA TATGTATACACACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	112	0.0089	434	c.62+ others(449): Show c.62+9397_62+9398insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACACACATATATATGTATACA CACACACATATATATGTATACACACACACATATATGTATACACACACACA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TDO2_chr4_155898696_155925406	155921168	G G	GTCTCTTT others(427): Show GTCTCTTTTTTTCTTTTTCTTTTTTTTCTTCTACTTTTTATTTTCTCTTT ATTATTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGATTT CTTTTCTTTTCTTCAGCTTCTTTCTTTTTTTCTCTATTTCTTTTTTATCC TATTTCTTTTCTATTTCTTTAGCTTTTTTTTCTTTTTTATATTTTCTTTT TTCTCTTTTTCTTCTTTTTCCTTTCAGCTTTGCTTCTTTTAGTTTTTTTA TTCTTTTTCTTTTTTTTTTTTTTTTTTTTCTTTTCTTTTTCTCTTTTCTT TTTTCTTTTATTACTTCTTTTTTTTTCTTTTTCTTTTTCCTTTTTTTTTT TTCTCTTTTTTCTTTTTTCTCTTTTTTTTTTTTTATTTCTTTTATTTTTT TTTTTTTCTTTTTTTCTTTATTCCTTTTTGTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	377	0.0027	434	c.11 others(445): Show c.1178_*1179insTCTCTTTTTTTCTTTTTCTTTTTTTTCTTCTACT TTTTATTTTCTCTTTATTATTTCTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTCAGATTTCTTTTCTTTTCTTCAGCTTCTTTCTTTTTTTCTCT ATTTCTTTTTTATCCTATTTCTTTTCTATTTCTTTAGCTTTTTTTTCTTT TTTATATTTTCTTTTTTCTCTTTTTCTTCTTTTTCCTTTCAGCTTTGCTT CTTTTAGTTTTTTTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTCTTTTC TTTTTCTCTTTTCTTTTTTCTTTTATTACTTCTTTTTTTTTCTTTTTCTT TTTCCTTTTTTTTTTTTCTCTTTTTTCTTTTTTCTCTTTTTTTTTTTTTA TTTCTTTTATTTTTTTTTTTTTCTTTTTTTCTTTATTCCTTTTTGTTTTT	TDO2	ENSG00000151790.9	transcript	ENST00000536354.3	protein_coding		763		chr4	TogoVar
TERT_chr5_1248167_1300068	1273782	C C	CACGACCG others(427): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACTGCCATCCACAGTCACCACACATCAGACCCCT GTGACCGATCACCATCCACAGTCACCACACATCAGACCCCACGACTGCCA TCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCTGTGACCGATCACCATCCACAGTCACCACACA	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA19005.hp1 HG02293.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0334 a0001c0001t0001g0288 a0001c0001t0001g0334	2	392	0.0051	434	c.228 others(453): Show c.2287-1503_2287-1502insTGTGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGT GACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTG ATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATG GCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747713	G G	GCTGGGGT others(427): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	314	0.0032	434	c.189 others(449): Show c.189-600_189-599insTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAG AAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748026	G G	GGTAGAAG others(427): Show GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGC GGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGACACTGAA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0269 a0001c0001t0015g0269	1	314	0.0032	434	c.189 others(449): Show c.189-284_189-283insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGACACTGAAGTAGAAGGTGGG AGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748042	C C	CTGGGGTA others(427): Show CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGG GGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAG GCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGACACTGAAG TAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0262 a0001c0001t0041g0262	1	314	0.0032	434	c.189 others(449): Show c.189-284_189-283insTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGACACTGAAGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1287423	C C	CCCTCCCC others(427): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	348	0.0029	434	c.519 others(451): Show c.519+1200_519+1201insCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287563	G G	GCCTCCCC others(427): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCACCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCACCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	348	0.0029	434	c.519 others(451): Show c.519+1060_519+1061insGTGCGGCGGGGAGGCTGCGGCGGTGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGT GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287602	G G	GCAGCCTC others(427): Show GCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTC CCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGC AGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCC CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCCCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCC GCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTC CCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	348	0.0029	434	c.519 others(451): Show c.519+1021_519+1022insGGGCGGGGAGGCTGCGGCGGGGAGGGTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGG AGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAG GCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGC GGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGG TGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTG CGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGG AGGCTG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287703	G G	GCCTCCCC others(427): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCCCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCCCACCCTCTCTGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCGGCCTCCCCGCCG CGGCCTCCCCGCCGCGGCCTCCCCGCCGCGGCCTCCCCGCCGCGGCCTCC CCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	348	0.0029	434	c.519 others(449): Show c.519+920_519+921insGTGGGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGG GGCGGGGAGGCCGCGGCGGGGAGGCCGCGGCGGGGAGGCCGCGGCGGGGA GGCCGCGGCGGGGAGGCCGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGGGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCGG others(427): Show CGCCGCGGCCTCCCCGCCGCGGCCTCCCCGCCGCGGCCTCCCCGCCGCAC CCTCCCCGCCGCGGCCTCCCCGCCGCGGCCTCCCCGCCGCGGCCTCCCCG CCGCGGCCTCCCCGCCGCGGCCTCCCCGCCGCGGCCTCCCCGCCCCACCC TCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCC GCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTC CCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGC ACCCTCTCTGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCTGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	348	0.0029	434	c.519 others(449): Show c.519+787_519+788insAGAGAGGGTGCGGCAGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAG AGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAG GCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGC GGGGAGGGTGGGGCGGGGAGGCCGCGGCGGGGAGGCCGCGGCGGGGAGGC CGCGGCGGGGAGGCCGCGGCGGGGAGGCCGCGGCGGGGAGGCCGCGGCGG GGAGGGTGCGGCGGGGAGGCCGCGGCGGGGAGGCCGCGGCGGGGAGGCCG CGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TPPP_chr5_654862_698352	663170	T T	TGCTCGTC others(427): Show TGCTCGTCTGTGATCGGGTGATTCTGATGACTGCTCGTCTGTGATCGGGT GATTCCGGTGGCCGCTCGTCTGTGATCGGGTGAGTCCGATGACTGCTCGT CTGTGACCGGGTGATTCCGATGACTGCTCGTCTGTGATCGGGTGATTCCG ATGACTGCTCGTCTGTGATTGGGCGAGTCTGGTGACCGCTCATCTGTGAT CGGGTGATTCCGATGACTGCTCGTCTGTGATCGGGTGATTCTGATGACTG CTCGTCTGTGATCGGGTGATTCCGGTGGCCGCTCGTCTGTGATCGGGTGA GTCCGATGACTGCTCGTCTGTGATCGGGTGATTCTGATGACTGCTCGTCT GTGATCAGGTGAGTCCGATGACTGCTCGTCTGTGATCGGGTGATTCCGAT GACTGCTTGTCTGTGATTGGGCGATTCCGGTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG01243.hp1 HG02602.hp2 others(5): Show HG00140.hp2 HG01243.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG03688.hp1 HG03834.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0041 a0001c0003t0011 a0001c0003t0041	a0001c0003t0011g0034 a0001c0003t0011g0036 a0001c0003t0011g0037 others(5): Show a0001c0003t0011g0034 a0001c0003t0011g0036 a0001c0003t0011g0037 a0001c0003t0011g0038 a0001c0003t0011g0040 a0001c0003t0011g0041 a0001c0003t0011g0046 a0001c0003t0041g0288	8	409	0.0196	434	c.19 others(445): Show c.1931_*1932insGGCCACCGGAATCGCCCAATCACAGACAAGCAGT CATCGGAATCACCCGATCACAGACGAGCAGTCATCGGACTCACCTGATCA CAGACGAGCAGTCATCAGAATCACCCGATCACAGACGAGCAGTCATCGGA CTCACCCGATCACAGACGAGCGGCCACCGGAATCACCCGATCACAGACGA GCAGTCATCAGAATCACCCGATCACAGACGAGCAGTCATCGGAATCACCC GATCACAGATGAGCGGTCACCAGACTCGCCCAATCACAGACGAGCAGTCA TCGGAATCACCCGATCACAGACGAGCAGTCATCGGAATCACCCGGTCACA GACGAGCAGTCATCGGACTCACCCGATCACAGACGAGCGGCCACCGGAAT CACCCGATCACAGACGAGCAGTCATCAGAATCACCCGATCACAGACGAGC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	4/4	1931		chr5	TogoVar
TPPP_chr5_654862_698352	663170	T T	TGCTCGTC others(427): Show TGCTCGTCTGTGATCGGGTGATTCTGATGACTGCTCGTCTGTGATCGGGT GATTCCGGTGGCCGCTCGTCTGTGATCGGGTGAGTCCGATGACTGCTCGT CTGTGACCGGGTGATTCCGATGACTGCTCGTCTGTGATCGGGTGATTCCG ATGACTGCTCGTCTGTGATTGGGCGAGTCTGGTGACCGCTCGTCTGTGAT CGGGTGATTCCGATGACTGCTCGTCTGTGATCGGGTGATTCTGATGACTG CTCGTCTGTGATCGGGTGATTCCGGTGGCCGCTCGTCTGTGATCGGGTGA GTCCGATGACTGCTCGTCTGTGATCGGGTGATTCTGATGACTGCTCGTCT GTGATCAGGTGAGTCCGATGACTGCTCGTCTGTGATCGGGTGATTCCGAT GACTGCTTGTCTGTGATTGGGCGATTCCGGTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00735.hp1 others(20): Show HG00408.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01123.hp2 HG01175.hp1 HG01433.hp2 HG01981.hp2 HG01993.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02735.hp1 HG02738.hp1 HG03492.hp2 NA18952.hp1 NA18997.hp2 NA19009.hp2 NA19011.hp1 NA19079.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0014 a0001c0003 a0001c0008 a0001c0014	a0001c0003t0010 a0001c0003t0027 a0001c0003t0030 others(4): Show a0001c0003t0010 a0001c0003t0027 a0001c0003t0030 a0001c0003t0039 a0001c0003t0040 a0001c0008t0008 a0001c0014t0030	a0001c0003t0010g0008 a0001c0003t0010g0009 a0001c0003t0010g0039 others(15): Show a0001c0003t0010g0008 a0001c0003t0010g0009 a0001c0003t0010g0039 a0001c0003t0010g0042 a0001c0003t0010g0043 a0001c0003t0010g0044 a0001c0003t0027g0007 a0001c0003t0030g0156 a0001c0003t0039g0190 a0001c0003t0040g0256 a0001c0008t0008g0016 a0001c0008t0008g0020 a0001c0008t0008g0069 a0001c0008t0008g0117 a0001c0008t0008g0129 a0001c0008t0008g0309 a0001c0008t0008g0359 a0001c0014t0030g0096	23	409	0.0562	434	c.19 others(445): Show c.1931_*1932insGGCCACCGGAATCGCCCAATCACAGACAAGCAGT CATCGGAATCACCCGATCACAGACGAGCAGTCATCGGACTCACCTGATCA CAGACGAGCAGTCATCAGAATCACCCGATCACAGACGAGCAGTCATCGGA CTCACCCGATCACAGACGAGCGGCCACCGGAATCACCCGATCACAGACGA GCAGTCATCAGAATCACCCGATCACAGACGAGCAGTCATCGGAATCACCC GATCACAGACGAGCGGTCACCAGACTCGCCCAATCACAGACGAGCAGTCA TCGGAATCACCCGATCACAGACGAGCAGTCATCGGAATCACCCGGTCACA GACGAGCAGTCATCGGACTCACCCGATCACAGACGAGCGGCCACCGGAAT CACCCGATCACAGACGAGCAGTCATCAGAATCACCCGATCACAGACGAGC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	4/4	1931		chr5	TogoVar
TRAF6_chr11_36478769_36515272	36507571	A A	ATATACAT others(427): Show ATATACATGTATATATGTATATATACGTGTATCTACATGTGTACACATGT ATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACAT GTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTAC ACATGTATATACGTATATACATGTGTACACATGTATATACGTATATACAT GTGTACACATGTATATACGTATATACATGTGTACACATGTATATACGTAT ACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGT ATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATAC GTATACATGTGTACACATGTATATACGTATACATG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	388	0.0026	434	c.-23 others(451): Show c.-23+2476_-23+2477insCATGTATACGTATATACATGTGTACACA TGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACA CATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTA CACATGTATACGTATATACATGTGTACACATGTATATACGTATATACATG TGTACACATGTATATACGTATATACATGTGTACACATGTATATACGTATA TACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTA TATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACG TATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATA CGTATATACATGTGTACACATGTAGATACACGTATATATACATATATACA TGTATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(427): Show TCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGA GTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAA GTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGT TTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCC AGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCC AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAG GTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGC ATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG04204.hp2 HG03942.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0014 a0002c0002t0003 a0002c0002t0014	a0002c0002t0003g0237 a0002c0002t0014g0212 a0002c0002t0003g0237 a0002c0002t0014g0212	2	402	0.0050	434	c.-32 others(445): Show c.-3217_-3216insCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCT GTTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCA AACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCT GGCTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGT CTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTG CAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATT TTTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCC TGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(427): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCC AGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCC AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAG GTGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGC ATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTG CCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02135.hp2 HG03139.hp2 others(4): Show HG00738.hp1 HG02135.hp2 HG03139.hp2 NA18975.hp2 NA18979.hp2 NA18988.hp1 NA19000.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0009 a0001c0001 a0002c0002 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0007 a0009c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0069 a0001c0001t0002g0085 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0069 a0001c0001t0002g0085 a0002c0002t0003g0218 a0002c0002t0003g0228 a0002c0002t0007g0239 a0009c0009t0001g0074	7	402	0.0174	434	c.-32 others(445): Show c.-3217_-3216insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAGT CTCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTG CAACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATT TTTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCC TGGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRIML1_chr4_188134441_188152743	188152716	T T	TGGGGGGT others(427): Show TGGGGGGTGAGAAGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGAG GGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGAGGGTG AGAAGGGAAGTGAGAGTGGGGGTTGAGATGGGGAGAGTGAGAGTGGGGTG AGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGTTGAG AAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGTGGGGTGAGAAGGGGAAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGTGGGGGATGAGAAGGGGAGTGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	228	0.0044	434	c.53 others(445): Show c.5344_*5345insGGGGGGTGAGAAGGGAGTGAGAGTGGGGGTGAGA AGGGAAGTGAGAGAGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAA GGGGAGTGAGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGAGAGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGATGGGGAG AGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGT GAGAGTGGGGTTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAGGGGAAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGGATGAGAAGGGGAGTGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4974		chr4	TogoVar
TSNARE1_chr8_142207080_142408182	142390830	G G	GTAGCAGA others(427): Show GTAGCAGACGCTGTACACTGCGGGGGACTCCGTAGCAGACGCTGTACACT GCGGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGGACTCCGTAGCAG ACGCTGTACACTGCGGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGG ACTCCGTAGCAGACGCTGTACACTGCGGGGGACTCCGTAGCAGACGCTGT ACACTGCGGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGGACTCCGT AACAGACGCTGTACACTGCTGGGGACTCTATAGCAGACGCTGTACACTGC TGGGGACTCTATAGCAGACGCTGTACACTGCGGGGGACTCCGTAACAGAC GCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCTGGGGAC TCCGTAACAGACGCTGTACACTGCGGGGGACTCTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	238	0.0042	434	c.-40 others(453): Show c.-40+12273_-40+12274insTAGAGTCCCCCGCAGTGTACAGCGTC TGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCA GTGTACAGCGTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTATA GAGTCCCCAGCAGTGTACAGCGTCTGCTATAGAGTCCCCAGCAGTGTACA GCGTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCC CCGCAGTGTACAGCGTCTGCTACGGAGTCCCCCGCAGTGTACAGCGTCTG CTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCCCCGCAGT GTACAGCGTCTGCTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACGGA GTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCCCCGCAGTGTACAGC GTCTGCTA	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TSPAN9_chr12_3072379_3291559	3198837	A A	ACACCAGC others(427): Show ACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACC AGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAGC ACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCAC AGGTCACACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGC TCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGCC ACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCAC CACCAGCACAGGCCACCACCAGCACCATCAGCACAGGCCACCACCAGCAC AGCTCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGG TCACCACCAGCACAGGTCACACCAGCACAGGTCAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18950.hp2 NA18906.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0050 a0001c0001t0025 a0001c0001t0050	a0001c0001t0025g0076 a0001c0001t0050g0080 a0001c0001t0025g0076 a0001c0001t0050g0080	2	288	0.0069	434	c.-17 others(451): Show c.-17-2328_-17-2327insCCACCACCAGCACAGGCCACCACCAGCA CAGGTCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGCC ACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCAC CACCAGCACAGGTCACACCAGCACAGGTCACCACCAGCACAGGCCACCAC CAGCACAGCTCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCA GCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGC ACAGGTCACCACCAGCACAGGCCACCACCAGCACCATCAGCACAGGCCAC CACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGTCACAC CAGCACAGGTCACCACCAGCACAGGTCACACCAGCACAGGTCACCACCAG CACAGG	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(427): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTCCCTCCC CCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCC TTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTC CTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	334	0.0030	434	c.657 others(449): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCC CTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCC CCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTT CCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC TCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50029406	A A	ACCCCACA others(427): Show ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAG ACCCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCA TCACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACAC CATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTG AAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCC CACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACACA CACTCGTAAAGACCCCATCACACCGTCCTGAAGAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0176 a0005c0005t0002g0176	1	224	0.0045	434	c.225 others(453): Show c.2251+1023_2251+1024insGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGG ACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGT GATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTA CGAGGGTGTGTGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(427): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATAT TTATATATATTTATGTAATATATAATATTTATATATATTTATGTAATATA TAATATTTATATATATTTATGTAATATATAATATT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0174 a0002c0002t0026g0174	1	204	0.0049	434	c.213 others(453): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATATA TAAATATTATATATTACATAAATATATATAAATATTATATATTACATAAA TATATATAAATATTATATATTACATAAATATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAAATATTATATATTACATAAATATAATATATAAATATTATA TATTACATAAATATAATATATAAATATTATATATTACATAAATATAATAT ATAAATATTATATATTACATAAATATAATATATAATATATATTATATATT ACATAAATATAATATATAATATATATTATATATTACATAAATATAATATA TAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VIPR2_chr7_159023175_159149867	159132790	A A	AGATTGAT others(427): Show AGATTGATTTCAGACAGAATGATTGGCATACCGATTGATTTCAGACAGAA TGATTGGCATACCGATTGATTTTAGACAGAATGATTGGCATACCGATTGA TTTCAGACAGAATGATTGGCATACCGATTGATTTGAGACAGAATGATTGG CATACCGATTGATTTTAGACAGAATGATTGGCATACAGATTGATTTCAGA CAGAATGATTGGCATACCGATTGATTTTAGACAGAATGATTGGCATACAG ATTGATTTCAGACAGAATGATTGGCATACAGATTGATTTCAGACAGAATG ATTGGCATACAGACTGATTTCAGACAGAATGATTGGCATACAGATTGATT TCAGACAGAATGATTGGCATACCGATTGATTTCAGACAGAATGATTGGCA TACCGATTGATTTTAGACAGAATGATTGGCATACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0322 a0001c0008t0016g0322	1	336	0.0030	434	c.151 others(451): Show c.151+9655_151+9656insGGTATGCCAATCATTCTGTCTAAAATCA ATCGGTATGCCAATCATTCTGTCTGAAATCAATCGGTATGCCAATCATTC TGTCTGAAATCAATCTGTATGCCAATCATTCTGTCTGAAATCAGTCTGTA TGCCAATCATTCTGTCTGAAATCAATCTGTATGCCAATCATTCTGTCTGA AATCAATCTGTATGCCAATCATTCTGTCTAAAATCAATCGGTATGCCAAT CATTCTGTCTGAAATCAATCTGTATGCCAATCATTCTGTCTAAAATCAAT CGGTATGCCAATCATTCTGTCTCAAATCAATCGGTATGCCAATCATTCTG TCTGAAATCAATCGGTATGCCAATCATTCTGTCTAAAATCAATCGGTATG CCAATCATTCTGTCTGAAATCAATCGGTATGCCAATCATTCTGTCTGAAA TCAATC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
YBEY_chr21_46281342_46302751	46293401	C C	CGGTTAGC others(427): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAA ACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAG TCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	404	0.0025	434	c.339 others(451): Show c.339+1953_339+1954insATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAG ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTC AGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCC TGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293740	G G	GCAAGTTA others(427): Show GCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCATGCCCGGGACTCAGTGGGGACAGCCACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02738.hp1 HG01123.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0060 a0001c0001t0001g0117	2	404	0.0050	434	c.339 others(451): Show c.339+2285_339+2286insAACTCTAGATTCCTCCCGTGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATT CCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293740	G G	GCAAGTTA others(427): Show GCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	404	0.0025	434	c.339 others(451): Show c.339+2285_339+2286insAACTCTAGATTCCTCCCGTGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATT CCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar

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