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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TEDC2_chr16_2455109_2469963	2466524	A A	ATACAAAA others(461): Show ATACAAAAAAATTAGCCCGGTGTGGTGGCATGCACCTGTGGTCCCAGTTA CCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTG CAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAG ACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCGGCGTGGTGTGTGCCT GCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGG GAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAATGTACTCCAGCCTGG GCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGGC AGGCACGGTGGCTCATGACTGTAATCCCAGCACTTTGGAAGGCCAAGGCA GGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGACCAACATGGTGAA ACCTCGTCTCTACTAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG02451.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	378	0.0053	468	c.18 others(479): Show c.1856_*1857insTACAAAAAAATTAGCCCGGTGTGGTGGCATGCAC CTGTGGTCCCAGTTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC AGGAGGCAGAGGTTGCAGTGAGCGGAGATGGTGCCACTGCACTCCAGCCT GGGCAACAGAGTGAGACTCCGTCTCAAAGAAAACAAAAAAAAGTTAGCCG GCGTGGTGTGTGCCTGCATTCCCAGCTACTCAGGAGGCTGAGGCAGGAGA ATCACTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATTGTGCCAA TGTACTCCAGCCTGGGCGACAGAGCGAGACTCTGTGTCAAAAAAAAAAAA AAAAAAAAAAAAGGCAGGCACGGTGGCTCATGACTGTAATCCCAGCACTT TGGAAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCT GACCAACATGGTGAAACCTCGTCTCTACTAAAAC		TEDC2	ENSG00000162062.15	transcript	ENST00000361837.9	protein_coding					1562		chr16	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATGCAT others(461): Show ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAACACACATTATATATTATATATAATACACATTATATATTATA TATAATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02630.hp2 others(4): Show HG02280.hp1 HG02451.hp2 HG02630.hp2 HG02723.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0009 a0001c0002t0006g0158 a0001c0002t0006g0159 others(2): Show a0001c0002t0006g0009 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0160 a0001c0002t0006g0161	7	360	0.0194	468	c.62 others(479): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTGTTATATAATATATAATGTGTATTA TATATTTTAGATATATATAATGTATAATATGTATATAATATATAATATAT AATATGTATATAATATATAATATGTATATAATATATAATATATAATATGT ATATAATATATAATATATAATATGTATATTATATATAATATATAATACAT ATAATATGTATATTATATATATAATATATAATATATAATACATATAATAT GTATATTATATATATAATATATAATATATAATACATATAATATGCATATT ATATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGC ATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGCATA		TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding					3376		chr20	TogoVar
THEG_chr19_356747_381026	376716	G G	GTGTGCCC others(461): Show GTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0244 a0007c0008t0004g0244	1	370	0.0027	468	c.-74 others(477): Show c.-747_-746insGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACA		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					691		chr19	TogoVar
THSD4_chr15_71110471_71788383	71199804	G G	GTGTGTGT others(461): Show GTGTGTGTGCTGTGTGTGTGTGATGCACGTGTGGGGTGTGTGTGTGCTGT GTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGTGGGGTGTGTGTGGGGT GTGTGGTGTGTGTATGTGTGGTGTGTGTATGTGGTGTGTGTGTAGTGTGT GTGTGTGGGTGTGTGTGATGTATGGTGTGTGTGGTGTGTGGGTGTGTGGT GTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGATGCATGTGTGGAGGGTGT GTGTGTGTGGTGTGTGTGTGGTGCATGTGTGGTATGTGTGTGTGATGCAT GTGTGTGTGGTGTGTGTGGGTGTGTGTGATGTGTGGTGTGTGTGTGGTGT GTGTGGTGTCTGGGTGTGTGGTGTGTGTGTGTAGTGTGTGTGTAGTGTGT GTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGTGTGGGTGTGTGCTGT GTGTGTGCTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0094 a0001c0001t0011g0094	1	116	0.0086	468	c.100 others(487): Show c.100-15223_100-15222insCTGTGTGTGTGTGATGCACGTGTGGG GTGTGTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTGTGTG GGGTGTGTGTGGGGTGTGTGGTGTGTGTATGTGTGGTGTGTGTATGTGGT GTGTGTGTAGTGTGTGTGTGTGGGTGTGTGTGATGTATGGTGTGTGTGGT GTGTGGGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGATGC ATGTGTGGAGGGTGTGTGTGTGTGGTGTGTGTGTGGTGCATGTGTGGTAT GTGTGTGTGATGCATGTGTGTGTGGTGTGTGTGGGTGTGTGTGATGTGTG GTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGTGTGGTGTGTGTGTGTAGT GTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTGTGGTGT GTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGTGCTGTGTGTG		THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr15	TogoVar
TH_chr11_2158929_2176815	2161578	A A	AGACCCCT others(461): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCC AGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCT ATCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCAGACCCCTGTCCCCACACCCCTGTCCCCACA CCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	388	0.0026	468	c.26 others(479): Show c.2654_*2655insCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCTGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC CGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGATAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGATAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTC		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2350		chr11	TogoVar
TMPRSS9_chr19_2355265_2431261	2418883	T T	TTCCCTCC others(461): Show TTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCC CTCCCTCCGTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTT TCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTC CCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTCCCTTC CCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTT CCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCC CTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTTTCCTTC CCTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTCCCTCCCTTTCCTTCC CTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTACCTTTCCTTTCCTTCC CTCCCTCCCTTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0082 a0005c0010t0002g0082	1	114	0.0088	468	c.215 others(485): Show c.2154+746_2154+747insCCCTCCCTGGCCTTTCCTTCCATTCCTT CCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTCC CTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCC TCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCT TCCCTCTCCTCCCTCCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTCCCT GGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGT TTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTT CCCTCTCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTGCCTT CCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCCCTTTCCTTCCCTTCCCTC CCTACCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCT		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(461): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCC TCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	334	0.0030	468	c.657 others(483): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC		TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870469	A A	ACACACAC others(461): Show ACACACACCACACCCCACACACACCACACACACCACACACCCCCCACACA CCACACCCCACACACACCACACACCCCACACACACATCACATACCCCACA CACCACACACCCCACACACACCACACACCCCCCACACACCACACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACACAC CACACACACCACACACCCCCCACACACCACACCCCACACACACCACACAC CCCACACACACATCACATACCCCACACACCACACACCCCACACACACCAC ACACCCCCCACACACCACACACCCCACACACACCACACCCACACACACCA CACACCCCACACACACCACACACCCCACACACACCACACAAACCACACAC CCTACACACCCCACACACACCACACACACACATCACATACCACACACACA TCACATACCACACACAAAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	338	0.0030	468	c.35 others(487): Show c.35+21741_*35+21742insACCACACCCCACACACACCACACACA CCACACACCCCCCACACACCACACCCCACACACACCACACACCCCACACA CACATCACATACCCCACACACCACACACCCCACACACACCACACACCCCC CACACACCACACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACACACCACACACACCACACACCCCCCACACACCACAC CCCACACACACCACACACCCCACACACACATCACATACCCCACACACCAC ACACCCCACACACACCACACACCCCCCACACACCACACACCCCACACACA CCACACCCACACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACAAACCACACACCCTACACACCCCACACACACCACACACACACA TCACATACCACACACACATCACATACCACACACAAACCACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(461): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0029 a0029	a0029c0053 a0029c0053	a0029c0053t0003 a0029c0053t0003	a0029c0053t0003g0241 a0029c0053t0003g0241	1	344	0.0029	468	c.218 others(485): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(461): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCT CTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCC TCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCC TTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCC ATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTAC CCCTCCCCTGTCTTCTCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	64	0.0156	468	c.104 others(487): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCT CCTCTCCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTC CCTTCCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTC CTCTCCTTCCCTCCCTTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCC CTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCC CTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCCCTCCTCTC		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX3A_chrX_6528618_6540118	6532754	T T	TCCCTCCC others(461): Show TCCCTCCCCACACACCTCCTCTTCCTCCCGTCCCTCCCCACACACCTCTT CCTCCCTCCCTCCCCACACACCTCCTCTCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCCACACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTC CCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCC CCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACA CCCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCCACACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	74	0.0135	468	c.99 others(477): Show c.990_*991insGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGACGGGAGGAAGAGGAGGTGTGTGGGGAGGG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					863		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(461): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	408	0.0025	468	c.53+ others(483): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(461): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	408	0.0025	468	c.53+ others(483): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(461): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC TCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCC CTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCTCACCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTT CCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0020 a0003c0020t0020	a0003c0020t0020g0039 a0003c0020t0020g0039	1	246	0.0041	468	c.53- others(481): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCT CTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCTCACCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(461): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTC CCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTC TCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCC TCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCCTCTCCTCTCCC CCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTT CCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0234 a0003c0003t0018g0234	1	246	0.0041	468	c.53- others(481): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCC CCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTC TCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCCTCTCC TCTCCCCCTCCCCCGTCCCCCTCCCCCGTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(461): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCT CTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCC TCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCTCCCTCCCCCTCCCCTTT CCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	246	0.0041	468	c.53- others(481): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCC TCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCC CTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCTCCCTCCCCCTC CCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC		VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(461): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATATATATATACATGTATACATA TGTATATATGTATACATATGTATATATGTATACATATGTATATATGTATA TATGTATAAATATACATATGTATACATATGTATATATACATATGTATATA TATGTATATATGTATACATATGTATATATACATATGTATATATATGTATA CATATGCATATATACATATGTATATATATGTATATATGTATACATATGTA TATATGCATATATATACATATGTATATATGCATATATATACATATGTGTA TATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	165	0.0061	468	c.-15 others(489): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATATATATATACATGTAT ACATATGTATATATGTATACATATGTATATATGTATACATATGTATATAT GTATATATGTATAAATATACATATGTATACATATGTATATATACATATGT ATATATATGTATATATGTATACATATGTATATATACATATGTATATATAT GTATACATATGCATATATACATATGTATATATATGTATATATGTATACAT ATGTATATATGCATATATATACATATGTATATATGCATATATATACATAT GTGTATATATGTATATATGTATACATATGTGTATATATGTATAT		ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(461): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATGTATATATGTATACATATGTATATATACATATGTATATATATGTATA CATATGCATATATACATATGTATATATATGTATATATGTATACATATGTA TATATGCATATATATACATATGTATATATGCATATATATACATATGTGTA TATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	165	0.0061	468	c.-15 others(489): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATGTATATATGTATACATATGTATATATACATATGTATATATAT GTATACATATGCATATATACATATGTATATATATGTATATATGTATACAT ATGTATATATGCATATATATACATATGTATATATGCATATATATACATAT GTGTATATATGTATATATGTATACATATGTGTATATATGTATAT		ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(461): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATATATC ATATATATCACATATATGATATATATATCATATATCACATATATGATATA TATATCATATATCACATATATGATATATATATCATATATCACATATATGA TATATATCATATATATCATATGATATATATCATATATATCACATATATGA TATATATATGTGATATATATCATATATATCACATATATGATATATATATG TGATATATATCATATATATCACATATATGATATATATCACATGTGATATA TATCATATATATCACATATATGATATATATCATATGTGATATATATCATA TATATCACATATATGATATATATCATATGTGATATATATCATATATATCA CATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	350	0.0029	468	c.-36 others(479): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATATATCATATATATCACATATATGATATATATATCATATAT CACATATATGATATATATATCATATATCACATATATGATATATATATCAT ATATCACATATATGATATATATCATATATATCATATGATATATATCATAT ATATCACATATATGATATATATATGTGATATATATCATATATATCACATA TATGATATATATATGTGATATATATCATATATATCACATATATGATATAT ATCACATGTGATATATATCATATATATCACATATATGATATATATCATAT GTGATATATATCATATATATCACATATATGATATATATCATATGTGATAT ATATCATATATATCACATATATGATATATATCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(461): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATATATC ATATATATCACATATATGATATATATCATATATATCACATATATGATATA TATATCATATATCACATATATGATATATATATCATATATCACATATATGA TATATATATCATATATCACTCATATGATATATATCATATATATCACATAT ATGATATATATCATATGTGATATATATCATATATATCACATATGATATAT ATATGTGATATATATCATATATATCACATATATGATATATATATGTGATA TATATCATATATATCACATATATGATATATATCACATGTGATATATATCA TATATATCACATATATGATATATATCATATGTGATATATATCATATATCA CATATATGATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	350	0.0029	468	c.-36 others(479): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATATATCATATATATCACATATATGATATATATCATATATAT CACATATATGATATATATATCATATATCACATATATGATATATATATCAT ATATCACATATATGATATATATATCATATATCACTCATATGATATATATC ATATATATCACATATATGATATATATCATATGTGATATATATCATATATA TCACATATGATATATATATGTGATATATATCATATATATCACATATATGA TATATATATGTGATATATATCATATATATCACATATATGATATATATCAC ATGTGATATATATCATATATATCACATATATGATATATATCATATGTGAT ATATATCATATATCACATATATGATATATATCAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3527		chr10	TogoVar
ZNF618_chr9_113871309_114061593	113900985	C C	CCGCGAAC others(461): Show CCGCGAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCGCGCTAACCCG ACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCTCCTGTCT CCTAGCACCGTCCTCTCCCGCAAACCCGACCTCCTGTCTCCTAGCACCGT CCTCTCCCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCA AACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCGCGCTAACCCGACCTC CTGTCTCCTAGCACCGTCCTCTCCCGCGAACCCGACCTCCTGTCTCCTAG CACCGTCCTCTCCCGCGAACCCGACCTCCTGTCTCCTAGCACCGTCCTCT CGCGCTAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCC GACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCTCCTGTC TCCTAGCACCGTCCTCTCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0097 a0001c0002t0022g0097	1	264	0.0038	468	c.33+ others(485): Show c.33+24575_33+24576insGAACCCGACCTCCTGTCTCCTAGCACCG TCCTCTCGCGCTAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGC AAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCT CCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCTCCTGTCTCCTA GCACCGTCCTCTCCCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTC TCGCGCTAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCGAACC CGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCGAACCCGACCTCCTGT CTCCTAGCACCGTCCTCTCGCGCTAACCCGACCTCCTGTCTCCTAGCACC GTCCTCTCCCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCG CAAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCGCGC		ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF880_chr19_52364923_52390795	52384797	A A	AACCTTAC others(461): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAACAAACAAACAAACAA AAAAAAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACAC CTTGCACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAG TGACTGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAA GAGTTCACACTGGAGAGAG	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG02922.hp1 NA18972.hp2 HG02922.hp1 NA18972.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0035 a0002c0013t0001g0103 a0002c0013t0001g0035 a0002c0013t0001g0103	2	458	0.0044	468	c.123 others(477): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAACAAACAAACAAACAAAAAAAAA CAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCAC AACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGT GGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCA CACTGGAGAGAGACCTTACAAATGTAATGAAT	p.Glu others(481): Show p.Glu412_Cys413insPheGlyArgProArgArgValAspHisGluVa lArgArgSerArgProSerTrpLeuThrArgTerAsnProIleSerThrL ysAsnThrLysAsnTerProGlyAlaValAlaGlyAlaCysSerProSer TyrSerGlyGlyTerGlyArgArgMetAlaTerThrArgGluAlaGluLe uAlaValSerArgAspCysAlaThrAlaValArgSerProAlaTrpAlaT hrGluArgAspSerValSerLysLysLysLysThrAsnLysGlnThrLys LysAsnLysCysAsnGluCysGlyLysValPheSerTyrAsnSerHisLe uAlaGlnHisGlnArgIleHisThrGlyGluLysProTyrLysCysSerA spCysGlyLysValPheSerArgLeuProCysLeuThrArgHisGlnArg ValHisThrGlyGluArgProTyrLysCysAsnGlu	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(461): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATATAAATATATATAT TTATATATATATAAATATATATATTTATATATATATAAATATATATATAT TTCTATATATATATAAATATATATATATTTCTATATATATATAAATATAT ATATATTTCTATATATATAAATATATATATATATAAATATATATATAAAT ATATATTTATATATATATAAATATATATATATAAATATATATAAATATAT ATATATTTATATATATAAATATATATATATTTATATATATAAATAAATAT ATATTTATATATATAAATAAATATATATTTATATATATAAATATATATAT TTTTATATATATAAATATATATATTTTTATATATATAAATATATATATTT TTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	400	0.0025	468	c.532 others(483): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAAAATATATATATT TATATATATAAATATATATTTATTTATATATATAAATATATATTTATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATTTATATATATATATTTATATATATATAAATATATATTTATATATA TATTTATATATATATATATTTATATATATAGAAATATATATATATTTATA TATATATAGAAATATATATATATTTATATATATATAGAAATATATATATA TTTATATATATATAAATATATATATTTATATATATATAAATATATATATT TATATATATATAAATATATATATATTTCTATATATATAAATATATATATT TATATATATAGAAATATATATATATTTATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(461): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTCTATATATAGAAATATATATATATTTATATATATATAAATATATATAT TTATATATATATAAATATATATATTTATATATATATAAATATATATATAT TTCTATATATATATAAATATATATATATTTCTATATATATATAAATATAT ATATATTTCTATATATATAAATATATATATATATAAATATATATATAAAT ATATATTTATATATATATAAATATATATATATAAATATATATAAATATAT ATATATTTATATATATAAATATATATATATTTATATATATAAATAAATAT ATATTTATATATATAAATAAATATATATTTATATATATAAATATATATAT TTTTATATATATAAATATATATATTTTTATATATATAAATATATATATTT TTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	400	0.0025	468	c.532 others(483): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAAAATATATATATT TATATATATAAATATATATTTATTTATATATATAAATATATATTTATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATTTATATATATATATTTATATATATATAAATATATATTTATATATA TATTTATATATATATATATTTATATATATAGAAATATATATATATTTATA TATATATAGAAATATATATATATTTATATATATATAGAAATATATATATA TTTATATATATATAAATATATATATTTATATATATATAAATATATATATT TATATATATATAAATATATATATATTTCTATATATAGAAATATATATATT TATATATATAGAAATATATATATATTTATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ACTN2_chr1_236681499_236769631	236714677	T T	TGTATACA others(462): Show TGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCAT TCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGATATGCAA GAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAGATACC ACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTT ACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTC ATTCCTCACTGTGTGTTTAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0329 a0001c0001t0003g0329	1	344	0.0029	469	c.127 others(486): Show c.127-3115_127-3114insCGTATACACAGATACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACAG ATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTACGTATACACA GATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGT GTGTTTACGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATA GCTTCATTCCTCACTGTGTGTTTACGTATACACAGATACCACTGAAGGGA TATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTA		ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(462): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	469	c.-10 others(480): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTT ATGATATATAAATATAAATTTTTATATATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(462): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	469	c.-10 others(480): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTT ATGATATATAAATATAAATTTTTATATATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(462): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	469	c.-10 others(480): Show c.-1083_-1082insGATATATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTT ATGATATATAAATATAAATTTTTATATATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(462): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTAGATATTATATATTATATATTGTATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	416	0.0024	469	c.10 others(482): Show c.10504_*10505insTATATGAGAATATATAATATATTATATGAGAA TATATATTATATATGAGAATATATAATATATATGAGAATATATATAATAT GTCATATATGAGAATATATATTATATATGAGAATATATATTATATAAATG AGAAAATATATATTATATATTAGAATATATACATTATATATGAGTATATA TATAATATATGAGAATATATATAATATATGAGTATATATTATATATATGA GAATATATATTATATATGAGAATATATATATTATATATATGAGAATATAT AATATATATATATGAGAATATATATTATATATATGAGTATATATAATATA TATGAGAATATATATTATATGTATATAATATATATAATATATAATATACA ATATATAATATATAATATCTACATATATACATATAATATATAAACATATA ATATATAATATATACATGTAATATATATTATATATAT		AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding					2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(462): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTGTATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01261.hp2 HG01361.hp2 others(51): Show HG00544.hp1 HG01261.hp2 HG01361.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02602.hp1 HG02809.hp2 HG03017.hp2 HG03139.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp1 NA18960.hp1 NA18962.hp2 NA18967.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18982.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19058.hp2 NA19064.hp2 NA19074.hp1 NA19086.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0007 a0006c0010 others(1): Show a0001c0001 a0001c0007 a0006c0010 a0010c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0034 a0001c0001t0035 a0001c0001t0057 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0088 a0001c0007t0041 a0001c0007t0078 a0006c0010t0004 a0010c0012t0087	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(16): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0015g0000 a0001c0001t0034g0000 a0001c0001t0035g0000 a0001c0001t0057g0000 a0001c0001t0069g0000 a0001c0001t0072g0000 a0001c0001t0074g0000 a0001c0001t0082g0000 a0001c0001t0083g0000 a0001c0001t0084g0000 a0001c0001t0085g0000 a0001c0001t0088g0000 a0001c0007t0041g0000 a0001c0007t0078g0000 a0006c0010t0004g0000 a0010c0012t0087g0000	54	416	0.1298	469	c.10 others(482): Show c.10504_*10505insTATATGAGAATATATAATATATTATATGAGAA TATATATTATATATGAGAATATATAATATATATGAGAATATATATAATAT GTCATATATGAGAATATATATTATATATGAGAATATATATTATATAAATG AGAAAATATATATTATATATTAGAATATATACATTATATATGAGTATATA TATAATATATGAGAATATATATAATATATGAGTATATATTATATATATGA GAATATATATTATATATGAGAATATATATATTATATATATGAGAATATAT AATATATATATATGAGAATATATATTATATATATGAGTATATATAATATA TATGAGAATATATATTATATGTATATAATATATATAATATATAATATACA ATATATAATATATAATATATACATATATACATATAATATATAAACATATA ATATATAATATATACATGTAATATATATTATATATAT		AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding					2579		chr13	TogoVar
AP3D1_chr19_2095988_2156566	2128442	G G	GCACTGCA others(462): Show GCACTGCACCCCGTGGAGCCGGCCCACCCCACAGCTCCGACACTGCACCC CGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGG CCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACT GCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGG AGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCC GACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCCGCCGCTCCGA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	406	0.0025	469	c.806 others(484): Show c.806+647_806+648insTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGG GGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGC TCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTG CAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAG CTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGG GCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTG TCGGAGCTGTGGGGTGGGCCGGCTCCACGGGGTGCAGTG		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128990	C C	CGCTCCGA others(462): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCC ACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGAC ACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0351 a0001c0001t0003g0351	1	406	0.0025	469	c.806 others(483): Show c.806+99_806+100insTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGT GGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCG GCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGG TGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGG AGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGG CGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTC CACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGC		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
ARHGAP24_chr4_85470150_86007666	85686796	T T	TAAAAAAT others(462): Show TAAAAAATATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAAC AATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACT ATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATG AAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAA ACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATG GACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGG AGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATT AGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCT GCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	108	0.0093	469	c.181 others(488): Show c.181-35082_181-35081insATTCACAATAGCAAAGACTTGGAACC AACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATA TACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTT TGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGC AAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGA ACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACT GTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAA TGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATA CATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGT ATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT		ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
ATAD3B_chr1_1466765_1502848	1494251	T T	TGCTTCCT others(462): Show TGCTTCCTGGAGGGGTGGCCCTGTGAGCATCTGCGTAGCCCCTCTCCTCT GCTGGGCCCTGGGTGACGTGCAGCCACTCGGGTGGACCCTGAGGGTCCCT GCACCTGTTTGCCCTCTCTTGGGTGGGCTCAAGACCAAAAATGATGTTGA GCAGTCCTGGGCCCCTGAGCCACAGTGGCGGTGCGGCTCCGGTCAGTGTC TCCTGCGCTCCCGGGCCCCCGACCCACAGTGGCGGTCCGGCTCTGGTCAG TGTCTCCTGCGCTCCCGGGCCCCCGACCCACAGTGGCGGTCCGGCTCCGG TCGGTGTCTCCCCACACAGTGGCTCTTGGCGAGGGGTGGGCGCTGGCAGA GGGGACGGGCACCACGTGGTCATCCCCATGACAGGTTCTGTCATGGTGAC AGTGTTGTGGGAGGATGGTGTGCTGCTGCCCCTGCACCCCGTGAGATGAA TCCTGCCTCTGGGAGGTACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02965.hp1 others(4): Show HG01243.hp1 HG02559.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03540.hp1 NA19240.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0014 a0002c0002 a0012c0014	a0002c0002t0008 a0002c0002t0009 a0012c0014t0008 a0002c0002t0008 a0002c0002t0009 a0012c0014t0008	a0002c0002t0008g0007 a0002c0002t0008g0050 a0002c0002t0009g0017 others(1): Show a0002c0002t0008g0007 a0002c0002t0008g0050 a0002c0002t0009g0017 a0012c0014t0008g0007	7	276	0.0254	469	c.161 others(487): Show c.1615-1230_1615-762dupTCCTGGAGGGGTGGCCCTGTGAGCATC TGCGTAGCCCCTCTCCTCTGCTGGGCCCTGGGTGACGTGCAGCCACTCGG GTGGACCCTGAGGGTCCCTGCACCTGTTTGCCCTCTCTTGGGTGGGCTCA AGACCAAAAATGATGTTGAGCAGTCCTGGGCCCCTGAGCCACAGTGGCGG TGCGGCTCCGGTCAGTGTCTCCTGCGCTCCCGGGCCCCCGACCCACAGTG GCGGTCCGGCTCTGGTCAGTGTCTCCTGCGCTCCCGGGCCCCCGACCCAC AGTGGCGGTCCGGCTCCGGTCGGTGTCTCCCCACACAGTGGCTCTTGGCG AGGGGTGGGCGCTGGCAGAGGGGACGGGCACCACGTGGTCATCCCCATGA CAGGTTCTGTCATGGTGACAGTGTTGTGGGAGGATGGTGTGCTGCTGCCC CTGCACCCCGTGAGATGAATCCTGCCTCTGGGAGGTACAGCT		ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(462): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACC TGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGGAGCCTG CAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAGCCTGCA GACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGCAGA CAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0233 a0001c0007t0005g0233	1	266	0.0038	469	c.297 others(486): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGTCCCGC TCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGCTCTGTG TGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGTGT CTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGTGTCTG TCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTATCGGTC GATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
BCL11A_chr2_60452194_60558654	60468025	A A	AGTGATGG others(462): Show AGTGATGGTGGTAGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAG TGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATG GTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGT GGTGGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGG TAGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTG GTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGT GATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGG TGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGCTGGTGGTCATG GTACTTTGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTAGTGATAATGGTGGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0236 a0001c0001t0006g0236	1	262	0.0038	469	c.487 others(484): Show c.487+706_487+707insCACCACCATTATCACTACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACAAAGTACCATGACCACC AGCACCATCACTACCACCACCACCACCATCACCACCACCACCATTACCAC CACCATCACTACCACCACCACCATCACCACCAGTACCATCACCACCACCA CCATCACTACCACCACCACCACCACCACCACCACCATTACCACCACCATC ACTACCACCACCACCATCACCACCAGTACCATCACCACTACCACCATCAC TACCACCACCACCACCATCACCACCACCACCATTACCACCACCATCACTA CCACCACCACCATCACCACCAGTACCATCACCACCACCACCATCACTACC ACCACCACCACCACCACCACCACCATTACCACCACCATCACTACCACCAC CACCATCACCACCAGTACCATCACCACTACCACCATCAC		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1191354	C C	CCAGCAGG others(462): Show CCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGT GACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCAGGGTTTT GGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTTGGGGT CTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGG TCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGG GTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACTC AGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGCAC ACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCA CACTCGGGGTCTCTCTTACT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp1 NA18950.hp1 others(5): Show HG02129.hp1 HG02155.hp1 NA18950.hp1 NA18951.hp1 NA19000.hp2 NA19009.hp1 NA19057.hp2 NA19081.hp1	a0001 a0073 a0082 a0001 a0073 a0082	a0001c0001 a0073c0086 a0082c0130 a0001c0001 a0073c0086 a0082c0130	a0001c0001t0001 a0001c0001t0005 a0073c0086t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0073c0086t0001 a0082c0130t0001	a0001c0001t0001g0051 a0001c0001t0001g0112 a0001c0001t0001g0113 others(5): Show a0001c0001t0001g0051 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0281 a0001c0001t0005g0249 a0073c0086t0001g0088 a0082c0130t0001g0169	8	338	0.0237	469	c.300 others(486): Show c.300-3159_300-3158insCTCTCTTACTCAGCAGGCTGGCCTGGCT GTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTG GCTGTGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGC CTGGCTGTGTGGCCTCAGGCACACTTGGGGTCTCTGACCCAGTAGGCTGG CCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTG GCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGG CTGGCCTGGTTGTGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGC AGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAG TAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCA GCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGT		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMKK2_chr12_121232692_121301709	121255330	T T	TTTTATAT others(462): Show TTTTATATATAATTATATATATAATTTTATATATAATTATATATATAATT TTATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATAATTATATATATTATATAATTTTATATATATAATTATA TATATTATATAATTATATATATAATTTTATATATATATAATTATATATAC AATTTTATAATATATATAATTATATATACAATTATATATATATATAATTA TATATATAATTATATATATATAATTGTATATATAATTTTATATATATATA ATTATATATATAATTATATATATATAATTATATATATTTATATATATATA TAATTATATATATAATTATATATATAAAATTATATATATAATTTTATATA TATAATTTTATATATAATTTTATATATATAATTTTATATAATTTTATATA TAATTATATATATAATTTTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0119 a0004c0005t0002g0119	1	330	0.0030	469	c.907 others(484): Show c.907+219_907+220insTAAAATTATATATATAATTATATATAAAAT TATATAAAATTATATATATAAAATTATATATAAAATTATATATATAAAAT TATATATATAATTTTATATATATAATTATATATATAATTATATATATATA TAAATATATATAATTATATATATATAATTATATATATAATTATATATATA TAAAATTATATATACAATTATATATATATAATTATATATATAATTATATA TATATATAATTGTATATATAATTATATATATTATAAAATTGTATATATAA TTATATATATATAAAATTATATATATAATTATATAATATATATAATTATA TATATAAAATTATATAATATATATAATTATATATATAAAATTATATATAT AATTATATATATATAAAATTATATATATAATTATATATAAAATTATATAT ATAATTATATATAAAATTATATATATAATTATATATAAA		CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16						chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882279	G G	GCCGGGGG others(462): Show GCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAG CCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGA AAGCCGGCGGGAGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18612.hp1 NA18970.hp2 others(1): Show HG00544.hp2 NA18612.hp1 NA18970.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0130 others(1): Show a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0131	4	288	0.0139	469	c.303 others(488): Show c.303+23842_303+23843insTTTCCTTCTCCCGCCGGCTTTCCTTT CCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC CGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTT TCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGG		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(462): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCCGTTTCCTGGTAGACC CTGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAAT CCCAATCCACCCCCTCCCCCCTTTTTTGAGCTAGGGTCTCACTTTGTGCT GCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCA GGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACCAGGTCTTTACTAAA AATACAAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCAGCTAC TGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCAGAGGCTGCA GTGAGCCGAGATCGCACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02135.hp2 HG02145.hp2 others(17): Show HG02015.hp1 HG02135.hp2 HG02145.hp2 HG02572.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03453.hp1 HG03540.hp2 HG03834.hp2 HG04184.hp2 NA18906.hp1 NA18963.hp2 NA18970.hp2 NA18983.hp1 NA19085.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0021	a0001c0001t0002 a0001c0001t0011 a0001c0003t0001 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0003t0001 a0002c0002t0001 a0005c0021t0002	a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 others(17): Show a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0329 a0001c0001t0011g0318 a0001c0003t0001g0322 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0326 a0001c0003t0001g0327 a0002c0002t0001g0328 a0005c0021t0002g0319	20	338	0.0592	469	c.-34 others(480): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCC GTTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCCA ATTTCCAAATCCAATCCCAATCCACCCCCTCCCCCCTTTTTTGAGCTAGG GTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGC GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCG GATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAAC CAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACC TGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAG GAGGCAGAGGCTGCAGTGAGCCGAGATCGCACCAC		CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding					3353		chr16	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(462): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCCGTTTCCTGGTAGACC CTGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAAT CCCAATCCACCCCCTCCCCTCTTTTTTGAGCTAGGGTCTCACTTTGTGCT GCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCA GGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACCAGGTCTTTACTAAA AATACAAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCAGCTAC TGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCAGAGGCTGCA GTGAGCCGAGATCGCACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0306 a0001c0003t0004g0306	1	338	0.0030	469	c.-34 others(480): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCC GTTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCCA ATTTCCAAATCCAATCCCAATCCACCCCCTCCCCTCTTTTTTGAGCTAGG GTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGC GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCG GATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAAC CAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACC TGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAG GAGGCAGAGGCTGCAGTGAGCCGAGATCGCACCAC		CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding					3353		chr16	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(462): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCTGTTTCCTGGTAGACC CTGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAAT CCCAATCCACCCCCTCCCCCCTTTTTTGAGCTAGGGTCTCACTTTGTGCT GCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCA GGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACCAGGTCTTTACTAAA AATACAAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCAGCTAC TGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCAGAGGCTGCA GTGAGCCGAGATCGCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(232): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0004 others(22): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0001c0022 a0002c0002 a0002c0009 a0002c0012 a0002c0018 a0002c0025 a0002c0026 a0003c0008 a0004c0016 a0006c0019 a0007c0027 a0008c0020 a0009c0023 a0010c0017 a0011c0013 a0012c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(42): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0003t0001 a0001c0003t0004 a0001c0003t0008 a0001c0003t0019 a0001c0004t0006 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0006t0005 a0001c0006t0018 a0001c0006t0020 a0001c0007t0005 a0001c0007t0012 a0001c0010t0002 a0001c0010t0003 a0001c0011t0010 a0001c0015t0002 a0001c0022t0004 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0009t0003 a0002c0012t0001 a0002c0018t0001 a0002c0025t0001 a0002c0026t0001 a0003c0008t0001 a0004c0016t0001 a0006c0019t0004 a0007c0027t0002 a0008c0020t0001 a0009c0023t0002 a0010c0017t0022 a0011c0013t0005 a0012c0014t0001	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0015 others(228): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0037 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0218 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0330 a0001c0001t0003g0039 a0001c0001t0003g0125 a0001c0001t0003g0134 a0001c0001t0003g0140 a0001c0001t0003g0166 a0001c0001t0003g0223 a0001c0001t0005g0124 a0001c0001t0007g0005 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0199 a0001c0001t0007g0201 a0001c0001t0007g0320 a0001c0001t0009g0145 a0001c0001t0009g0146 a0001c0001t0009g0154 a0001c0001t0009g0171 a0001c0001t0011g0147 a0001c0001t0013g0150 a0001c0001t0014g0122 a0001c0001t0015g0119 a0001c0001t0017g0114 a0001c0003t0001g0038 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0074 a0001c0003t0001g0084 a0001c0003t0001g0097 a0001c0003t0001g0100 a0001c0003t0001g0109 a0001c0003t0001g0112 a0001c0003t0001g0172 a0001c0003t0004g0220 a0001c0003t0008g0072 a0001c0003t0008g0075 a0001c0003t0019g0182 a0001c0004t0006g0168 a0001c0004t0006g0180 a0001c0004t0006g0196 a0001c0004t0006g0197 a0001c0004t0006g0198 a0001c0005t0001g0204 a0001c0005t0001g0205 a0001c0005t0001g0213 a0001c0005t0002g0232 a0001c0005t0004g0209 a0001c0005t0004g0212 a0001c0005t0004g0215 a0001c0005t0004g0216 a0001c0005t0004g0224 a0001c0005t0004g0225 a0001c0005t0004g0226 a0001c0005t0004g0227 a0001c0006t0005g0004 a0001c0006t0005g0181 a0001c0006t0005g0187 a0001c0006t0005g0190 a0001c0006t0005g0192 a0001c0006t0005g0193 a0001c0006t0005g0194 a0001c0006t0005g0206 a0001c0006t0018g0185 a0001c0006t0020g0189 a0001c0007t0005g0078 a0001c0007t0005g0191 a0001c0007t0005g0228 a0001c0007t0005g0229 a0001c0007t0012g0202 a0001c0007t0012g0203 a0001c0010t0002g0080 a0001c0010t0003g0048 a0001c0010t0003g0064 a0001c0010t0003g0071 a0001c0010t0003g0092 a0001c0011t0010g0013 a0001c0011t0010g0014 a0001c0011t0010g0321 a0001c0015t0002g0308 a0001c0022t0004g0110 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0113 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0219 a0002c0002t0004g0017 a0002c0002t0004g0041 a0002c0002t0004g0045 a0002c0002t0004g0053 a0002c0002t0004g0055 a0002c0002t0004g0061 a0002c0002t0004g0067 a0002c0002t0004g0086 a0002c0002t0004g0093 a0002c0002t0004g0101 a0002c0002t0004g0105 a0002c0002t0004g0111 a0002c0002t0004g0183 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0210 a0002c0002t0004g0211 a0002c0002t0004g0214 a0002c0002t0004g0217 a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0008g0057 a0002c0002t0008g0095 a0002c0002t0008g0174 a0002c0009t0003g0023 a0002c0009t0003g0024 a0002c0009t0003g0026 a0002c0009t0003g0027 a0002c0009t0003g0029 a0002c0012t0001g0032 a0002c0012t0001g0068 a0002c0012t0001g0103 a0002c0018t0001g0063 a0002c0025t0001g0079 a0002c0026t0001g0059 a0003c0008t0001g0046 a0003c0008t0001g0054 a0003c0008t0001g0056 a0003c0008t0001g0060 a0003c0008t0001g0073 a0003c0008t0001g0089 a0003c0008t0001g0102 a0004c0016t0001g0195 a0006c0019t0004g0289 a0007c0027t0002g0152 a0008c0020t0001g0176 a0009c0023t0002g0167 a0010c0017t0022g0001 a0011c0013t0005g0184 a0012c0014t0001g0058	235	338	0.6953	469	c.-34 others(480): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCT GTTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCCA ATTTCCAAATCCAATCCCAATCCACCCCCTCCCCCCTTTTTTGAGCTAGG GTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGC GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCG GATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAAC CAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACC TGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAG GAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC		CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding					3353		chr16	TogoVar
CDH3_chr16_68640310_68705292	68641956	T T	TTGCACTC others(462): Show TTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTCGTCTCAAAAAAAAAA AAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCTGTTTCCTGGTAGACC CTGACTGGCACACCTTGTGAATCACTTTATTTCCAATTTCCAAATCCAAT CCCAATCCACCCCCTCCCCGCTTTTTTGAGCTAGGGTCTCACTTTGTGCT GCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGAGGTCA GGAGTTCTAGACCAGCCTGGCCAACATGGTGAAACCAGGTCTTTACTAAA AATACAAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCAGCTAC TGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCAGAGGCTGCA GTGAGCCGAGATCGCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA18984.hp1 HG03041.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0007g0200 a0002c0002t0001g0107 a0001c0001t0007g0200 a0002c0002t0001g0107	2	338	0.0059	469	c.-34 others(480): Show c.-3424_-3423insTGCACTCCAGCCTGGGCAACAAGAGCAAGACCTC GTCTCAAAAAAAAAAAAAAGGAAAGACTTGAACCTCCTGAGTTCGATTCT GTTTCCTGGTAGACCCTGACTGGCACACCTTGTGAATCACTTTATTTCCA ATTTCCAAATCCAATCCCAATCCACCCCCTCCCCGCTTTTTTGAGCTAGG GTCTCACTTTGTGCTGCTGGGAATGTAAAATGATGCAGTCGCAGCCAGGC GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCG GATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAAC CAGGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCACC TGTAGTCCCAGCTACTGAGAGGCTGAGGCAGGAGAATCGCCTGAACCCAG GAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCAC		CDH3	ENSG00000062038.15	transcript	ENST00000264012.9	protein_coding					3353		chr16	TogoVar
CEP72_chr5_607340_658553	628367	C C	CCCCAGGA others(462): Show CCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCG CAGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTT TTGGAGAACTCAGGTCGCAGTCCCTGGGGAGTGTTCCCAGGACCCAGCCC CCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCTGGGGAGTG TTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTC ACCGTCCCCGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGCT TCTGGAGAACTCAGGTCGCAGTCCCTGGGGAGTGTTCCCAGGACCCAGCC CCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCACCGTCCCCGGGGAGT GGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGT CGCAGTCCCCGGGGAGTGTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0020 a0003c0003t0002g0020	1	91	0.0110	469	c.512 others(486): Show c.512+3836_512+3837insGCAGTCCCCGGGGAGTGTTCCCAGGACC CAGCCCCCTTCTTTGTGCAGCTTTTGGAGAACTCAGGTCGCAGTCCCTGG GGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACT CAGGTCGCAGTCCCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGT GCAGCTTCTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGGCCCCAGGAC CCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCTG GGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAAC TCAGGTCACCGTCCCCGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTG TGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCCGGGGAGTGTTCCCAGGA CCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTC		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	628501	T T	TCCCAGGA others(462): Show TCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCA CAGGCCCCGGGGATTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTT CTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGGCCCCAGGACCCAGCCC CCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCCAGGGAGTG GCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTT GCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCT TCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCC CCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCCAGGGAGT GGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGT TGCCGTCCCCAGGGAGTGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	91	0.0110	469	c.512 others(486): Show c.512+3935_512+3936insGCCCTTCTTTGTGCAGCTTCTGGAGAAC TCAGGTCACAGGCCCCGGGGATTGGCCCCAGGACCCAGCCCCCTTCTTTG TGCAGCTTCTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGGCCCCAGGA CCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCC AGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAA CTCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTT GTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCAGG ACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCC CAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGA ACTCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGC		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	628707	G G	GGACCCAG others(462): Show GGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTC CCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGA GAACTCAGGTCGCAGTCCCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTC TTTGTGCAGCTTCTGGAGAACTCTGGTTGCCGTCCCCGGGGAGTGTTCCC AGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGT CCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGG AGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTT CTTTGTGCAGCTTCTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGTTCC CAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAG TCCCCGGGGAGTGTTCCCAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	91	0.0110	469	c.512 others(486): Show c.512+4170_512+4171insCGCAGTCCCTGGGGAGTGTTCCCAGGAC CCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCTG GGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAAC TCTGGTTGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTG TGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGA CCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCC GGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAA CTCAGGTCACCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTT GTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCACG ACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGT		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1284660	A A	ATTTTTTT others(462): Show ATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCT GGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGA AATACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATA GAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTT TTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCC ACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAA GCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTT GCCAAGACTAGTTTTTGATT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02148.hp2 HG01978.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0002g0100 a0001c0001t0001g0121 a0001c0001t0002g0100	2	159	0.0126	469	c.77- others(484): Show c.77-1096_77-1095insTTGAGATGGAGTCTTACTCTGTCTCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGG ATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAAT ACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATAGAG GAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTT TTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACT CCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCT AATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCC AAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTTTT		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284660	A A	ATTTTTTT others(462): Show ATTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTC TGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAG AAATACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTAT AGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTT TTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCC CACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCA AGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGT TGCCAAGACTAGTTTTTGAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	159	0.0063	469	c.77- others(484): Show c.77-1096_77-1095insTTTGAGATGGAGTCTTACTCTGTCTCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGG GATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAA TACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATAGA GGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTT TTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCAC TCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGC TAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGC CAAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTTT		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGGGG others(462): Show TGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGA GGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGGAGGGGGAGAG GACGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0088 a0008c0088	a0008c0088t0076 a0008c0088t0076	a0008c0088t0076g0057 a0008c0088t0076g0057	1	126	0.0079	469	c.416 others(490): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCT CCCCCTCCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(462): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGGAGGGGAGGG GGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGG GGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0062 a0002c0002t0003g0062	1	216	0.0046	469	c.923 others(488): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCC CTCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCCTCC CCTCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTC CACTCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTCCCCCTCCCCTCC CCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCATTCCT TCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar

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