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
ADGRA1_chr10_133082924_133136675	133111144	T T	TCTCCTAA others(287): Show TCTCCTAATCCCTCCAGACCACCTGCCCCCCCGGGAACCACCCCTCCTAA TCCCACCAGACAACCTGCCCGCCATGAGCACCTCCCTCCTAATCCCACCA GACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCA CGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACC TCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0227 a0001c0003t0004g0227	1	294	0.0034	294	c.401 others(311): Show c.401+8313_401+8314insTCCAGACCACCTGCCCCCCCGGGAACCA CCCCTCCTAATCCCACCAGACAACCTGCCCGCCATGAGCACCTCCCTCCT AATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTC CAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111144	T T	TCTCCTAA others(287): Show TCTCCTAATCCCTCCAGACCACCTGCCCCCCCGGGAACCACCCCTCCTAA TCCCACCAGACAACCTGCCCGCCATGAGCACCTCCCTCCTAATGCCTCCA GACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCA CGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACC TCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	294	0.0034	294	c.401 others(311): Show c.401+8313_401+8314insTCCAGACCACCTGCCCCCCCGGGAACCA CCCCTCCTAATCCCACCAGACAACCTGCCCGCCATGAGCACCTCCCTCCT AATGCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111205	A A	AACCTGCC others(287): Show AACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCTGCCATGGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCCCCAG ACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0017 a0001c0002t0008g0017	1	289	0.0035	294	c.401 others(311): Show c.401+8376_401+8377insGGGCACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCTGCCATGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCCCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111263	G G	GCACCTCC others(287): Show GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCTCCAGACCACCTGCCCGCCACAGACACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCCCCAG ACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTG CCCGCCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	325	0.0031	294	c.401 others(311): Show c.401+8446_401+8447insCACCTGCCCACCACAGGCACCTCCCTCC TAATCCCTCCAGACCACCTGCCCGCCACAGACACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCCCCAGACAA CCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCG CCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCT CCTAATCCCACCAGAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111331	C C	CACCTGCC others(287): Show CACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACGGGCATCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAG ACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATGCCTCCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0234 a0001c0002t0020g0234	1	279	0.0036	294	c.401 others(311): Show c.401+8502_401+8503insGGGCACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCACCACGGGCATCTCCCTCCTAATGCCTCCAGACCACCTGCC CACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAG ACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT GCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111450	A A	ACCAGACC others(287): Show ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATC CCTCCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0073 a0001c0003t0004g0073	1	275	0.0036	294	c.401 others(311): Show c.401+8614_401+8615insCACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCT CCTAATCCCCCCAGAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111751	A A	AACCTGCC others(287): Show AACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAG ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACGGACACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0215 a0004c0020t0001g0215	1	216	0.0046	294	c.401 others(311): Show c.401+8917_401+8918insACCACGGGCACCTCCCTCCTAATCCCAC CAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGACA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACCACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111807	A A	AGACACCT others(287): Show AGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0328 a0001c0001t0018g0328	1	214	0.0047	294	c.401 others(311): Show c.401+8966_401+8967insACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCT CCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111927	C C	CACCACGG others(287): Show CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAAT CCCACCAGACAACCTGCCTGCCATGGGCATCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0306 a0001c0003t0009g0306	1	357	0.0028	294	c.401 others(311): Show c.401+9085_401+9086insACCACGGACACCTCCCTCCTAATCCCAC CAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAAC CTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCTGCCATGGGCA TCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCC ACCAGACAACCTGCCT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111981	C C	CTCCCTCC others(287): Show CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCA CCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGAC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	366	0.0027	294	c.401 others(311): Show c.401+9150_401+9151insCCCACCAGACCACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCC CACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGG AACCATCCCTCCTAAT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111996	T T	TCCAGACA others(287): Show TCCAGACAACCTGCCCACCACGGGCACCTCCCTCCAAATCCCACCAGACA ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGA CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATG CCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0253 a0001c0003t0062g0253	1	170	0.0059	294	c.401 others(311): Show c.401+9160_401+9161insAACCTGCCCACCACGGGCACCTCCCTCC AAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCACCAGAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112017	A A	AGGCACCT others(287): Show AGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCGCCACG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0166 a0001c0004t0004g0166	1	142	0.0070	294	c.401 others(311): Show c.401+9176_401+9177insGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCGCCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112017	A A	AGGCACCT others(287): Show AGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGACACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCGCCACG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	142	0.0070	294	c.401 others(311): Show c.401+9176_401+9177insGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGAC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCT CCTAATCCCACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCC CTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGAC CACCTGCCCGCCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133112017	A A	AGGCACCT others(287): Show AGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACC TGCCCGCCACGGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCC GTGAGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCGCCACG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0121 a0001c0004t0004g0121	1	142	0.0070	294	c.401 others(311): Show c.401+9176_401+9177insGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCTCCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATGC CTCCAGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCGCCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133135692	G G	GTCTCTGG others(287): Show GTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTT CTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCCCTTTGGGG GGGTCCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTG TGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGATCTCTGGGTC CCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTG GGTCTCTGTGGGGGTTCTGGTCTCTGGGTCCCTGGGGGGGCGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03669.hp2 HG01243.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0051 a0001c0001t0003 a0001c0001t0051	a0001c0001t0003g0277 a0001c0001t0051g0347 a0001c0001t0003g0277 a0001c0001t0051g0347	2	265	0.0075	294	c.61 others(305): Show c.6181_*6182insTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGG GTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTC TGGGTCCCTTTGGGGGGGTCCTGGTCTCTGGGTCCCTGTGGGGGCGGCTG GTCTCTGGGTCCCTGTGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCG GCTGATCTCTGGGTCCCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTTGG GGGGTCTGGTCTCTGGGTCTCTGTGGGGGTTCTGGTCTCTGGGTCCCTGG GGGGGCGGCT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4018		chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113435554	G G	GGGACCCG others(287): Show GGGACCCGGCACCCAGGTGCAGGGTGAATACAGGTGTACCCCGGGACCCA GCACCCACATGTAGAGTGAACATAGGTGTACCCCGGGACCCAGCACCCAG GCACAGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGTGTAGAG TGAACATAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATA GGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTGTACC CCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0016 a0021c0038t0016	a0021c0038t0016g0034 a0021c0038t0016g0034	1	148	0.0068	294	c.380 others(311): Show c.380-1688_380-1687insTGGGGTACACCTATGTTCACTCTACACC TGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCT GGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCCGGGTCCCG GGGTACACCTATGTTCACTCTACACCTGGGTGCTGGGTCCCAGGGTACAC CTATGTTCACTCTGTGCCTGGGTGCTGGGTCCCGGGGTACACCTATGTTC ACTCTACATGTGGGTGCTGGGTCCCGGGGTACACCTGTATTCACCCTGCA CCTGGGTGCCGGGTCC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113436662	G G	GCACAGAG others(287): Show GCACAGAGTGAACATAGGTGTACCCTGGGACCCAGCACCCAGGCGCAGGG TGAACATAGGTGTACCCCGGGACCCAGCATCCACACGTAGAGTGAACACA GGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATAGGTGTACC CCGGGACCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACC CGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAGGACCCGGCACCC ACGCATAGAGTGAACGTAGGTGTACCCTGTGACCCAGCACCCACA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03654.hp2 HG03239.hp1 HG03654.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0045 a0001c0001 a0019c0045	a0001c0001t0001 a0019c0045t0001 a0001c0001t0001 a0019c0045t0001	a0001c0001t0001g0212 a0019c0045t0001g0151 a0001c0001t0001g0212 a0019c0045t0001g0151	2	103	0.0194	294	c.380 others(311): Show c.380-2796_380-2795insTGTGGGTGCTGGGTCACAGGGTACACCT ACGTTCACTCTATGCGTGGGTGCCGGGTCCTGGGGTACACCTATGTTCAC TCTACACCTGGGTGCCGGGTCCCGGGGTACACCTGTGTTCACTCTACGTG TGGATGCTGGGTCCCGGGGTACACCTATGTTCACCCTGCGCCTGGGTGCC GGGTCCCGGGGTACACCTGTGTTCACTCTACGTGTGGATGCTGGGTCCCG GGGTACACCTATGTTCACCCTGCGCCTGGGTGCTGGGTCCCAGGGTACAC CTATGTTCACTCTGTG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
AFAP1_chr4_7753714_7944861	7835510	G G	GGTTACCT others(287): Show GGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGCCTTAAGGTTACCT GGGTGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGTTACCTGGGTGGCT CTTGAATGGACTGCGGGCGGCCTTAAGGTTACCTGGGTGGCTCTTGAATG GACTGTGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGG GCGGCCTCAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGTCTT GAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTACA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0273 a0001c0002t0048g0273	1	316	0.0032	294	c.726 others(311): Show c.726+3013_726+3014insTGTAAGGCAGCCCGCAGTCCATTCAAGA GCCACCCAGGTAACCTCAAGACAGCCCACAGTCCATTCAAGAGCCACCCA GGTAACCTTGAGGCCGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCT TAAGGCAGCCCACAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCCG CCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCGCAGT CCATTCAAGAGCCACCCAGGTAACCTTAAGGCAGCCCACAGTCCATTCAA GAGCCACCCAGGTAAC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7835678	G G	GGTTACCT others(287): Show GGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCGGCCTCAAGGTTACCT GGGTGGCTCTTGAATGGACTGTGGGCTGTCTTGAGGTTACCTGGGTGGCT CTTGAATGGACTGCGGGCTGCCTTACAGTTACCTGGGTGGCTCTTGAATG GACTGTGGGCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGG GCTGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGTGGGCTGTCTT GAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTACA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp2 HG02027.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0055 a0001c0001t0047g0060 a0001c0001t0001g0055 a0001c0001t0047g0060	2	316	0.0063	294	c.726 others(311): Show c.726+2845_726+2846insTGTAAGGCAGCCCGCAGTCCATTCAAGA GCCACCCAGGTAACCTCAAGACAGCCCACAGTCCATTCAAGAGCCACCCA GGTAACCTTAAGGCAGCCCGCAGTCCATTCAAGAGCCACCCAGGTAACCT TAAGGCAGCCCACAGTCCATTCAAGAGCCACCCAGGTAACTGTAAGGCAG CCCGCAGTCCATTCAAGAGCCACCCAGGTAACCTCAAGACAGCCCACAGT CCATTCAAGAGCCACCCAGGTAACCTTGAGGCCGCCCGCAGTCCATTCAA GAGCCACCCAGGTAAC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AHRR_chr5_316714_443285	376503	G G	GTGAGAAC others(287): Show GTGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACACGGAGAAACACAGGAAAGATGTGAATGAAT GAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTGAATGAATG AGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGA GAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAG AACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	64	0.0156	294	c.245 others(307): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACACGGAGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAA AGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAA GATGTGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	376503	G G	GTGAGAAC others(287): Show GTGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAAT GAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATG AGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGA GAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAG AACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00735.hp2 others(16): Show HG00140.hp1 HG00621.hp2 HG00735.hp2 HG01106.hp2 HG01934.hp1 HG02027.hp1 HG02300.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 NA18945.hp1 NA18951.hp1 NA18960.hp1 NA18964.hp2 NA18971.hp2 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0017 a0002c0002 others(1): Show a0001c0001 a0001c0017 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0041 a0001c0001t0061 a0001c0017t0015 a0002c0002t0001 a0002c0002t0011 a0002c0002t0042 a0002c0002t0051 a0003c0004t0004	a0001c0001t0002g0042 a0001c0001t0003g0103 a0001c0001t0003g0171 others(16): Show a0001c0001t0002g0042 a0001c0001t0003g0103 a0001c0001t0003g0171 a0001c0001t0003g0259 a0001c0001t0005g0203 a0001c0001t0041g0201 a0001c0001t0061g0182 a0001c0017t0015g0177 a0002c0002t0001g0062 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0204 a0002c0002t0011g0022 a0002c0002t0042g0166 a0002c0002t0051g0194 a0003c0004t0004g0164 a0003c0004t0004g0169 a0003c0004t0004g0187	19	82	0.2317	294	c.245 others(307): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAA AGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAA GATGTGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391377	C C	CGCAGGGC others(287): Show CGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGAC GCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGGG CAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGGGC AGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGGGCA GGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAG GGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATGGGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18967.hp2 NA18982.hp1 NA18951.hp2 NA18967.hp2 NA18982.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0015c0021 a0001c0001 a0002c0002 a0015c0021	a0001c0001t0002 a0002c0002t0001 a0015c0021t0019 a0001c0001t0002 a0002c0002t0001 a0015c0021t0019	a0001c0001t0002g0074 a0002c0002t0001g0075 a0015c0021t0019g0110 a0001c0001t0002g0074 a0002c0002t0001g0075 a0015c0021t0019g0110	3	210	0.0143	294	c.351 others(313): Show c.351+14708_351+14709insACGCAGGGCGATGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGCGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391547	C C	CGAGGCGG others(287): Show CGAGGCGGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGC GAGGCGGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGACACAGGGCGATGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCAGGGGCGCAGGGCGAGGAGGGCGCAGGGT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0001 a0003c0004t0016g0001	1	213	0.0047	294	c.351 others(313): Show c.351+14836_351+14837insGGGGCCAGAGCGTGCACGGGCGCAGG GCGAGGAGGGCGCAGGGCGAGGCGGGGCCAGAGCGTGCACGGACGCAGGG CGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGC GAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCG AGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGA TGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAGGGGCGCAGGGCGAG GAGGGCGCAGGGTGAGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391569	C C	CGGACACA others(287): Show CGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT GGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCATG GGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG GGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGG GGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGG GCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	207	0.0048	294	c.351 others(313): Show c.351+14855_351+14856insACACAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGG CAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCA GGGCCAGAGCGTGCATGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391569	C C	CGGACACA others(287): Show CGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT GGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATG GGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGG GGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGG GGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGG GCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02273.hp2 HG03710.hp1 others(2): Show HG00597.hp1 HG02273.hp2 HG03710.hp1 NA18974.hp2 NA18975.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0002c0002t0010 a0005c0005t0008 a0002c0002t0001 a0002c0002t0010 a0005c0005t0008	a0002c0002t0001g0067 a0002c0002t0001g0096 a0002c0002t0001g0146 others(2): Show a0002c0002t0001g0067 a0002c0002t0001g0096 a0002c0002t0001g0146 a0002c0002t0010g0145 a0005c0005t0008g0036	5	211	0.0237	294	c.351 others(313): Show c.351+14855_351+14856insACACAGGGCGAGGAGGGCGCAGGGTG AGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGG CAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCA GGGCCAGAGCGTGCATGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391765	C C	CGGACGCA others(287): Show CGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAC GGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACG GACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGG GCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGA CACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGAC ACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	199	0.0050	294	c.351 others(313): Show c.351+15051_351+15052insACGCAGGGCGATGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGA GGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAG GCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGG CAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGC AGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCA GGGCCAGAGCGTGCATGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391779	G G	GGAGGGCG others(287): Show GGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAT GAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGATG AGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGA GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGATGAG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0038 a0005c0005t0038	a0005c0005t0038g0024 a0005c0005t0038g0024	1	245	0.0041	294	c.351 others(313): Show c.351+15100_351+15101insGCGCAGGGCGATGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGGCGCAGGGCGATGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391972	A A	ACACAGGG others(287): Show ACACAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGG CGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGC GCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACG CAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGC AGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCA GGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0252 a0001c0001t0045g0252	1	227	0.0044	294	c.351 others(313): Show c.351+15257_351+15258insACAGGGCGATGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGGGCGCAGGGCGATGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGG GCCAGAGCGTGCACGGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALG5_chr13_36944738_37004340	36994603	T T	TAAAAGTT others(287): Show TAAAAGTTAACAGCATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC CGTCTCTACTAAAAGTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG03540.hp2 others(1): Show HG02280.hp1 HG02647.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196	4	256	0.0156	294	c.285 others(309): Show c.285+385_285+386insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA CTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA TGCTGTTAACTTTT	ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	3/9			chr13	TogoVar
ANO7_chr2_241183677_241230976	241187779	T T	TGGGGGGG others(287): Show TGGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGAA GGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGAG GGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGGG GGAGGGGGAGAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAG GAAGAGGAGAGGGAGAAGTGGGGGGGGAGGGGGAGAAACGATAGGAGGAG GGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGAAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0114 a0006c0006t0009g0114	1	320	0.0031	294	c.-99 others(303): Show c.-995_-994insGGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGG GGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAA ACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGG GAGAAGTGGGGGGGGAGGGGGAGAAACGATAGGAGGAGGGGGAGTGGGGA GAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGGGGGAGGGGGAGAA ACGATAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGG GAGAAGTG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding		897		chr2	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(287): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC AGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0051 a0002c0001t0001g0051	1	207	0.0048	294	c.494 others(309): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
AP1AR_chr4_112226787_112278110	112256035	T T	TAAAAATG others(287): Show TAAAAATGTATTCTTTACACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03540.hp1 HG02970.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0048 a0001c0001t0009g0048	2	395	0.0051	294	c.159 others(311): Show c.159+1278_159+1279insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATGTATTCTTTA	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(287): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATATAATTGTATATA TAATATATATTATATATATAATTGTATATATAATATATATTATATATATA ATTGTATATATAATATATATTATATATATAATTGTATATATAATATATAT TATATATATAATTGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18953.hp2 NA19006.hp1 others(2): Show NA18952.hp1 NA18953.hp2 NA19006.hp1 NA19009.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0001 a0001c0001t0001g0034	5	38	0.1316	294	c.-12 others(305): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATATAATTGTATATATAATATATATTATATATATAATTGTATATATAATA TATATTATATATATAATTGTATATATAATATATATTATATATATAATTGT ATATATAATATATATTATATATATAATTGTATATATAATATATATTATAT ATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGCGGAGG others(287): Show CGCGGAGGGGAGGGGGAGTGCGGGGGAGGGAGGGGAGTGCGGGGGAGGGG GAGTGTGGGGGGAGGGGAGTGAGTGGGGGGAGGGGGGAGTGCGGGGGGAG GGGGAGTGCGGGGGGAGGGGGGAGTGCGGGGGGAGGGGGGAGTGCGGGGG TGAGGCGGGAGAGCGGGCGGGAGGGGCGCTGAGTGGGGGGAGGGGCGAGT GCGGGAGGGAGGCGGGAGTGCGAGGGGAGCGGAGTGGTGGGGGATGGGGA GGCTGCGGGGGGGAGCGGGGCTCTGCCCGAGGAGCGGGAGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	8	0.1250	294	c.62 others(305): Show c.6299_*6300insGCGGAGGGGAGGGGGAGTGCGGGGGAGGGAGGGG AGTGCGGGGGAGGGGGAGTGTGGGGGGAGGGGAGTGAGTGGGGGGAGGGG GGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGGAGTGCGGGGGGAG GGGGGAGTGCGGGGGTGAGGCGGGAGAGCGGGCGGGAGGGGCGCTGAGTG GGGGGAGGGGCGAGTGCGGGAGGGAGGCGGGAGTGCGAGGGGAGCGGAGT GGTGGGGGATGGGGAGGCTGCGGGGGGGAGCGGGGCTCTGCCCGAGGAGC GGGAGTGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARHGEF10_chr8_1818926_1963641	1897478	G G	GATCGGAT others(287): Show GATCGGATCGCAGTTCCCCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGG ATCGGATCGCAGTTCCCCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGCA TCGGATCGCAGTTCCCCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGGAT CGGATCGCAGTTCCCACTCTCGACAGTTGTGGGCTCTGTCCTAAGGCATC GGATCGCAGTTCCCCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGCATCG GATCTCAGTTCCCCCTCTGGACAGCTGTGGGCTCTGTCCTAAGGC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0007 a0007	a0007c0053 a0007c0053	a0007c0053t0001 a0007c0053t0001	a0007c0053t0001g0005 a0007c0053t0001g0005	1	352	0.0028	294	c.155 others(311): Show c.1558-907_1558-906insGATCGGATCGCAGTTCCCCCTCTGGACA GCTGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCCTCTGGACAG CTGTGGGCTCTGTCCTAAGGGATCGGATCGCAGTTCCCACTCTCGACAGT TGTGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCCTCTGGACAGCT GTGGGCTCTGTCCTAAGGCATCGGATCTCAGTTCCCCCTCTGGACAGCTG TGGGCTCTGTCCTAAGGCATCGGATCGCAGTTCCCCCTCTGGACAGCTGT GGGCTCTGTCCTAAGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASB5_chr4_176208673_176274222	176218377	A A	ATTTGTAT others(287): Show ATTTGTATGACATATAAATATATATATTTGTATGACATATAAATATATAT ATTTGTATGACATATAAATATATATGTATGATATATAAATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGT ATGATATATAAATATATATATGTATGATATATAAATATATATATT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03491.hp1 HG01261.hp2 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0253 a0001c0002t0001g0009 a0001c0002t0001g0253	2	312	0.0064	294	c.671 others(311): Show c.671-1369_671-1368insAATATATATATTTATATATCATACATAT ATATATTTATATATCATACAAATATATATATTTATATATCATACAAATAT ATATATTTATATATCATACAAATATATATATTTATATATCATACAAATAT ATATATTTATATATCATACAAATATATATATTTATATATCATACAAATAT ATATATTTATATATCATACAAATATATATTTATATATCATACATATATAT TTATATGTCATACAAATATATATATTTATATGTCATACAAATATATATAT TTATATGTCATACAAA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(287): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATGATATATATATCATATATTATATATGATATATATATCAT ATATGATATATATGAATATATATATCATATATGATATATATGAATATATA TATCATATATGATATATATGAATATATATATCATATATGATATATATATT CATATATATCATATATGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03927.hp2 NA18968.hp2 HG00735.hp1 HG03927.hp2 NA18968.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0047 a0002c0001t0002 a0002c0001t0047	a0002c0001t0002g0146 a0002c0001t0002g0179 a0002c0001t0047g0185 a0002c0001t0002g0146 a0002c0001t0002g0179 a0002c0001t0047g0185	3	270	0.0111	294	c.924 others(311): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATAATATATGATATA TATATCATATATATCATATATGATATATATGAATATATATATCATATATG ATATATATATTCATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(287): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATGATAT ATATATCATATATTATATATGATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0161 a0002c0001t0006g0161	1	268	0.0037	294	c.924 others(311): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATATTCATATATATCATATATGATATATATATCATA TATAATATATGATATATATATCATATATATCATATATGATATATATATTC ATATATATCATATATGATATATATATTCATATATATCATATATGATATAT ATATTCATATATATCATATATGATATATATATTCATATATATCATATATG ATATATATATTCATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(287): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACG TATATACAACATAAATATATGTTGTATATACGTATATACAACATAAATAT ATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0183 a0002c0003t0006g0183	1	98	0.0102	294	c.676 others(311): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA TATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATAC GTATATACAACATATATTTATATATGTATATACGTATATACAACATATAT TTATATATGTATATACGTATATACAACATATATTTATATATGTATATACG TATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(287): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCACCCCCC CACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACC TCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACC CCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCT ACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCT ACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0037 a0001c0005t0037	a0001c0005t0037g0103 a0001c0005t0037g0103	1	5	0.2000	294	c.39+ others(311): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC ACCCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCC ACCCCCTACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCC CACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79356834	A A	ACCCTGTG others(287): Show ACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGT CCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTG GGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTC TGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTAGAGGTGTCCGTGTGAG GGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGAC CCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0090 a0002c0005t0001g0187 a0001c0001t0001g0090 a0002c0005t0001g0187	2	120	0.0167	294	c.290 others(313): Show c.2904-2520_2904-2519insCCCTGTGTGAGGGGTGCTCTGGGTCT GGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGG GACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACC CTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCT GGGTCTAGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGT CTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGG AGGTGTCTGTGTGAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79357382	C C	CCTGTGTG others(287): Show CCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTG TGTGAGGGGTGCTCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTG AGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGG GTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTAGAGG TGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC TGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	219	0.0046	294	c.290 others(313): Show c.2904-1958_2904-1957insCCCTGGGTCTGGAGGTGTCTGTGTGA GGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCCGTGTGAGGGA CCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCT GTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGG GTCTAGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCT GGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAG GTGTCTGTGTGAGGGGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BICD1_chr12_32101847_32388633	32252110	A A	ATATTATA others(287): Show ATATTATATATTTATAATAAATATATATTATATATTTATAATAAATATAT ATTATATATTTATTATAAATATATAATATATATTTATAATAAATATTATA TATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTA TAATAAATATTATACATTATATATTATATTTATAATAAATATTATATATT ATATATTATATTTATAATAAATATTCTATATTATATATTATATTTATAAT AAATATTCTATATTATATATTATATTTATAATAAATATTCTATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA21309.hp1 HG01175.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0220 a0001c0001t0003g0148 a0001c0001t0003g0220	2	232	0.0086	294	c.426 others(313): Show c.426+35654_426+35655insTATATATTTATAATAAATATATATTA TATATTTATAATAAATATATATTATATATTTATTATAAATATATAATATA TATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATTA TATATTATATATTATATTTATAATAAATATTATACATTATATATTATATT TATAATAAATATTATATATTATATATTATATTTATAATAAATATTCTATA TTATATATTATATTTATAATAAATATTCTATATTATATATTATATTTATA ATAAATATTCTATATTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32252110	A A	ATATTATA others(287): Show ATATTATATATTTATAATAAATATATATTATATATTTATAATAAATATAT ATTATATATTTATTATAAATATATAATATATATTTATAATAAATATTATA TATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTA TAATAAATATTATATATTATATATTATATTTATAATAAATATTATATATT ATATATTATATTTATAATAAATATTATATATTATATATTATATTTATAAT AAATATTCTATATTATATATTATATTTATAATAAATATTCTATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp2 HG02004.hp2 others(3): Show HG01106.hp2 HG01346.hp2 HG02004.hp2 HG02148.hp2 HG02738.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0058 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0058 a0001c0002t0002	a0001c0001t0001g0289 a0001c0001t0004g0032 a0001c0001t0004g0113 others(3): Show a0001c0001t0001g0289 a0001c0001t0004g0032 a0001c0001t0004g0113 a0001c0001t0004g0139 a0001c0001t0058g0213 a0001c0002t0002g0067	6	236	0.0254	294	c.426 others(313): Show c.426+35654_426+35655insTATATATTTATAATAAATATATATTA TATATTTATAATAAATATATATTATATATTTATTATAAATATATAATATA TATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATTA TATATTATATATTATATTTATAATAAATATTATATATTATATATTATATT TATAATAAATATTATATATTATATATTATATTTATAATAAATATTATATA TTATATATTATATTTATAATAAATATTCTATATTATATATTATATTTATA ATAAATATTCTATATTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32252110	A A	ATATTATA others(287): Show ATATTATATATTTATAATAAATATATATTATATATTTATAATAAATATAT ATTATATATTTATTATAAATATATAATATATATTTATAATAAATATTATA TATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTA TAATAAATATTATATATTATATATTATATTTATAATAAATATTATATATT ATATATTATATTTATAATAAATATTCTATATTATATATTATATTTATAAT AAATATTCTATATTATATATTATATTTATAATAAATATTCTATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	231	0.0043	294	c.426 others(313): Show c.426+35654_426+35655insTATATATTTATAATAAATATATATTA TATATTTATAATAAATATATATTATATATTTATTATAAATATATAATATA TATTTATAATAAATATTATATATTATATATTATATTTATAATAAATATTA TATATTATATATTATATTTATAATAAATATTATATATTATATATTATATT TATAATAAATATTATATATTATATATTATATTTATAATAAATATTCTATA TTATATATTATATTTATAATAAATATTCTATATTATATATTATATTTATA ATAAATATTCTATATTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
C2CD4C_chr19_400445_414147	404613	C C	CGGGGTCC others(287): Show CGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGG GGTCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGATGG GGTCCTGCCCTGAGGGGTGTGGGGGGGGGATGGGGTCCTGCCCTGAGGGG TCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACGGGGT CCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGT GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0040 a0001c0001t0033g0040	1	162	0.0062	294	c.24 others(305): Show c.2482_*2483insCATCCCCCCTCCACACCCCTCAGGGCAGGACCCC ATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCC CTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGT ACCCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCCCCCCACACCCCTC AGGGCAGGACCCCATCCCCCCCTCAGACCCCTCAGGGCAGGACCCCGTAC CCCCTCAGACCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCAGG GCAGGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		831		chr19	TogoVar
C8orf90_chr8_141509671_141523729	141515291	C C	CATCCACA others(287): Show CATCCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCA CCCACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACC CACACATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCCA TCCATCCACCCATCCACCCACCCATTCACCCAATCACCCATCCATGCATC CACCCAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACCT ACCCATCCATCCATCCATCCACCCATCCACCCACCCACCCCACCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	43	0.0233	294	c.79+ others(307): Show c.79+521_79+522insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAATCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCCACCTATCCA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf90_chr8_141509671_141523729	141515291	C C	CATCCACA others(287): Show CATCCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCA CCCACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCCAC CCACACATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCC ATCCATCCACCCATCCACCCACCCATTCACCCAACCACCCATCCATGCAT CCACCCAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACC TACCCATCCATCCATCCATCCACCCATCCACCCACCCACCCACCT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	43	0.0233	294	c.79+ others(307): Show c.79+521_79+522insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCCACCCACACATTCATCCATACATCCATCCACCCACACACCT CTCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAACCAC CCATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCC ACCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCA CCCACCTATCCA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185812	T T	TCGGCATG others(287): Show TCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGT CGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	334	0.0030	294	c.300 others(311): Show c.300-9156_300-9155insATGCATAGGGCCGGAGGCGGGGTACGTG GGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCAGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG6_chr19_53986637_54017666	53990526	C C	CCCAGGCC others(287): Show CCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGC ACCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GACCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCC TCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01257.hp1 HG01258.hp2 others(8): Show HG00558.hp1 HG01257.hp1 HG01258.hp2 HG02683.hp2 HG02735.hp1 HG04199.hp2 NA18971.hp2 NA18992.hp1 NA18994.hp2 NA19030.hp1 NA19043.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0008 a0001c0001 a0001c0002 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0032 a0008c0008t0002	a0001c0001t0001g0182 a0001c0001t0002g0340 a0001c0001t0022g0248 others(8): Show a0001c0001t0001g0182 a0001c0001t0002g0340 a0001c0001t0022g0248 a0001c0001t0034g0377 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0358 a0001c0002t0002g0378 a0001c0002t0032g0255 a0008c0008t0002g0259	11	396	0.0278	294	c.-23 others(305): Show c.-2352_-2351insCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTCCAGGCCCCAGCACCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCA GCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGACCCCCAGCACCTCCTCCCTCAGACCCAGGAGTC CAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCC CCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1110		chr19	TogoVar

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