Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(716): Show TTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTTGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTC CTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCG GAGCACTGGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACT TCCTTTCGGAGCACTGGGCCCACCGGTCACCTCCCTTCTCCACTTCCTTT CGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAAC ACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGG GCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGC CGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTC ACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACCTC CCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCC GGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGG GCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGG AGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAACAC TGTGGCCCCGCTGGTCAACTCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	302	0.0033	723	c.321 others(740): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACC AGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGG GCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAG TGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGTTC CAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAG GAAGTGGAGAAGGGAGGTGACCGGTGGGCCCAGTGCTCCGAAAGGAAGTG GATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGAA AGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAG TGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGA AGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(716): Show TTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTTGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTC CTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCG GAGCACTGGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACT TCCTTTCGGAGCACTGGGCCCACCGGTCACCTCCCTTCTCCACTTCCTTT CGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGC ACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGG GCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGC CGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTC ACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACCTC CCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCC GGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGG GCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGG AGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAACAC TGTGGCCCCGCTGGTCAACTCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00609.hp1 others(31): Show HG00099.hp1 HG00544.hp1 HG00609.hp1 HG01070.hp1 HG01123.hp1 HG02027.hp2 HG02132.hp1 HG02717.hp1 HG02735.hp1 HG03195.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 NA18945.hp2 NA18954.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18984.hp1 NA18993.hp1 NA18994.hp2 NA19004.hp1 NA19011.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19091.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0021 others(1): Show a0001 a0002 a0021 a0029	a0001c0009 a0002c0002 a0002c0008 others(5): Show a0001c0009 a0002c0002 a0002c0008 a0002c0011 a0002c0029 a0002c0038 a0021c0042 a0029c0030	a0001c0009t0004 a0001c0009t0014 a0002c0002t0001 others(13): Show a0001c0009t0004 a0001c0009t0014 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0002t0018 a0002c0002t0022 a0002c0008t0004 a0002c0008t0032 a0002c0011t0004 a0002c0011t0014 a0002c0029t0001 a0002c0038t0004 a0021c0042t0028 a0029c0030t0030	a0001c0009t0004g0014 a0001c0009t0014g0084 a0002c0002t0001g0028 others(30): Show a0001c0009t0004g0014 a0001c0009t0014g0084 a0002c0002t0001g0028 a0002c0002t0001g0087 a0002c0002t0003g0206 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0004g0034 a0002c0002t0004g0065 a0002c0002t0004g0081 a0002c0002t0004g0095 a0002c0002t0004g0097 a0002c0002t0004g0098 a0002c0002t0004g0101 a0002c0002t0004g0103 a0002c0002t0004g0104 a0002c0002t0004g0189 a0002c0002t0004g0203 a0002c0002t0004g0268 a0002c0002t0014g0033 a0002c0002t0018g0164 a0002c0002t0022g0314 a0002c0008t0004g0066 a0002c0008t0004g0303 a0002c0008t0032g0304 a0002c0011t0004g0008 a0002c0011t0004g0213 a0002c0011t0014g0167 a0002c0029t0001g0227 a0002c0038t0004g0069 a0021c0042t0028g0378 a0029c0030t0030g0302	34	335	0.1015	723	c.321 others(740): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACC AGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGG GCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAG TGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTC CAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAG GAAGTGGAGAAGGGAGGTGACCGGTGGGCCCAGTGCTCCGAAAGGAAGTG GATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGAA AGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAG TGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGA AGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635697	A A	AAGTATGG others(716): Show AAGTATGGGTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTAT GGGTGGATGGGTGGGTGGACGGATGGATGGATGAAGTATGGGTGGATGGG TGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGG TGGACGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATG CATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGA TGCATGGATGCATGGAAGTATGGGTGGATGGGTGGGTGAGTGGGTGGATG GAAGTATGGGTGGATGGGTGGGTGGATGGGTGGATGGATGCATGTATGGA AGTATGGATGGATGAGTGGATGGGTGGGTGGGTGGATGCATAGATGGATG GAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGA AGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATG GATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGA TGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATG GATGGATGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTAGGTGGA TGGATGCATGGATTGAAGTATGGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	206	0.0049	723	c.59- others(738): Show c.59-3920_59-3919insCCCATACTTCAATCCATGCATCCATCCACC TACCCACCCACCCATCCACCCATCCACCCATACTTCCATCCATCCATGCA TCCACCCACTCACCCACCCATCCACCCATCCACCCTTACTTCCATCCATG CATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCATCCA TGCATCCACCCACTCACCCACCCATCCACCCATCCACCCTTACTTCCATC CATGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCA TCTATGCATCCACCCACCCACCCATCCACTCATCCATCCATACTTCCATA CATGCATCCATCCACCCATCCACCCACCCATCCACCCATACTTCCATCCA CCCACTCACCCACCCATCCACCCATACTTCCATGCATCCATGCATCCATC CACCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCA CCCACCCACCCATCCACCCATACTTCCATCCATCCATCCGTCCACCCACC CATCCACCCATACTTCCATCCATCCATGCATCCATCCACCCACCCACCCA CCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACCCACCCATC CACCCATACTTCATCCATCCATCCGTCCACCCACCCATCCACCCATACTT CCATCCATCCATGCATCCACCCACCCACCCATCCACCCATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FTCD_chr21_46131779_46160579	46144472	C C	CTCCCCCC others(716): Show CTCCCCCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCC CTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCTCCC TCCCCTTCCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCC TCCCCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCCCTC CCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCT CCCTCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTC CCCCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCT CCCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTC CCTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCT GTCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCC CTCCCTCTCTCCCCCTGCCCTCTCTCCCCCCCCTCCCCTCTCTCCCCCCT CCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCT CCTTCTCCCTCTCTCCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTC TCCCCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCT TCCTCCCCTCTCTCCCACCCTCTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	214	0.0047	723	c.126 others(740): Show c.1260+944_1260+945insCAGAGGGTGGGAGAGAGGGGAGGAAGGA AAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGGGGGGAGAGG GAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGGAGAGAGGGAGAAGGAGGT GGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGG GGGAGAGAGGGGAGGGGGGGGAGAGAGGGCAGGGGGAGAGAGGGAGGGGG GAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGGGGAGACAGGG AGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGGGAGGGAGA GAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGGAGGG AGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGGGGGAGG GAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGAGGGAGAG GGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGGGAGG GAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGGGGAGGGA GGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGGAAGGGGAGGGA GGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAG AGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGGGGGA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(716): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCT CCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTT CCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCA CCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTC CCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTT CTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTC TCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCC CTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTC TCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTC CCCCTGCCCTCTCTCCCCCCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCC CTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCC CCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCCCCTCCCCCTCTC CCTCTCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACC CTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	4	0.2500	723	c.126 others(740): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGAGAGGGAGA GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAG AGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAG GGGAAGAGGGGGAGGGGGGAGAGAGGGGGGGGAGAGAGGGCAGGGGGAGA GAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGG GGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAG GGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAA GGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAG AGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGA GGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAG GGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGG GGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGGAGAG AGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGG GAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(716): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCT CCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCAC CCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCC CTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTC TCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCT CCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCC TCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCT CCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CCCTGCCCTCTCTCCCCCCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCC TCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCC CCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCCCCCTCCCCCTCTC CCTCTCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACC CTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0002 a0001c0030t0002	a0001c0030t0002g0189 a0001c0030t0002g0189	1	4	0.2500	723	c.126 others(740): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGAGAGGGAGA GGGGGAGGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGA GAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGA GGGGAAGAGGGGGAGGGGGGAGAGAGGGGGGGGAGAGAGGGCAGGGGGAG AGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAG GGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGA GGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAA AGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAA GAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAG AGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGA GGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAG GGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAGAG AGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGG GAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(716): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCT CCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCAC CCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCC CTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTC TCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCT CCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCC TCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCT CCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CCCTGCCCTCTCTCCCCCCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCC TCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCC CCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCCCCTCCCCCTCTCC CTCTCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCC TCTGTCCCCCTCTCCCTGTCTCCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0001 a0012c0025t0001	a0012c0025t0001g0170 a0012c0025t0001g0170	1	4	0.2500	723	c.126 others(740): Show c.1260+931_1260+932insGGGAGACAGGGAGAGGGGGACAGAGGGT GGGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGAGAGGGAG AGGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGA GAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGA GGGGAAGAGGGGGAGGGGGGAGAGAGGGGGGGGAGAGAGGGCAGGGGGAG AGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAG GGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGA GGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAA AGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAA GAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAG AGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGA GGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAG GGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAGAG AGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGG GAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(716): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCC TTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCT CTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTC CCTCTCCCCCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTC TCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCC CCTTTCTCCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCT CTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCC ATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTCT CTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCC CCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCT TCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCTC CCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCC TCTCCCCCCTCCCTCTTTCCCCCCCTTTCCTTCCTCCCCTCTCTCCCACC CTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0136 a0003c0006t0002g0136	1	4	0.2500	723	c.126 others(740): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGGAAAGAGGGAGGGGGGAGAGGGA GAGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGG GAAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGA GGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGA GAGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAA GGAGAGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAG AGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAG GGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGGAGAAAGGGGGA GAGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGG GAGAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGGGGGAGAGGGAAG AGAGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAG GGTAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGG AGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGGGGGGGAAAGGGGA GGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(716): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCC TTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCT CTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTC CCTCTCCCCCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTC TCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCC CTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTCT CCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCAT CCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTCTCT CCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCCC CTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTC TCCCTCTCTCCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCTCC CTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCCTCCCCCCTCTCCC TCTCCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACC CTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0138 a0003c0006t0002g0138	1	4	0.2500	723	c.126 others(740): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGGAGAGGGA GAGGGGGGAGGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAG GGAAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGGAGAGAGGGAGAAG GAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGG GAGAGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAG AAGGAGAGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGG AGAGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAG AGGGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGA GAGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGG GAGAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGGGGGAGAGGGAAG AGAGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAG GGTAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGG AGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGGGGGGGAAAGGGGA GGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(716): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTC TCTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTT CCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCC CTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCT CCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTC TCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTC CATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTC TCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCC CCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCC TTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCT CCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCC CTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACC CTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02809.hp1 HG03195.hp2 others(1): Show HG00099.hp2 HG02809.hp1 HG03195.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0002g0188 a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0002g0188	4	7	0.5714	723	c.126 others(740): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAG GGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAG AGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAG GAGAGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGA GAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGG GAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAG AGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAG AGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGA GAGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGG GTAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGA GGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGA GGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GALR1_chr18_77244848_77282900	77252908	C C	CCACCACC others(716): Show CCACCACCACCATCACCATCACCACCACCACCACCACCATCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0046 a0001c0001t0028g0046	1	337	0.0030	723	c.666 others(740): Show c.666+1705_666+1706insTCACCATCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GMDS_chr6_1618806_2250605	2201060	C C	CGAGATGA others(716): Show CGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGA AGGATGAAGAGAGGGCACCACATGGACATCCAAGATGTAACAACCATCTA GGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGAAGACAGAACA CCACATGCGCATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTT AGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGCACATCTGAGATG AAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGA AGAGAGAGCACCACATGCACATCTGAGATGAAACCATCTAGGCAGTGAGG GCAGCATGTTAGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGCAC ATCTGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGG TGAAGGATGAAGAGAGAGCACCACATGGGCATCCGAGATGAAACCATCTA GGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGAAGACAGAACA CCACATGCGCATCCGAGATGAAACCATCTAGGCAGTGAGGGCAGCATGTT AGCAGAGAGGTGAAGGATGAAGAGAGAGCACCACATGCACATCTGAGATG AAACCATCTAGGCAGTGAGGGCAGCATGTTAGCAGAGAGGTGAAGGATGA AGAGAGAGCACCACATGCACATCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	164	0.0061	723	c.102 others(742): Show c.102+44260_102+44261insAGATGTGCATGTGGTGCTCTCTCTTC ATCCTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGATGGTTTCA TCTCAGATGTGCATGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAA CATGCTGCCCTCACTGCCTAGATGGTTTCATCTCGGATGCGCATGTGGTG TTCTGTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTA GATGGTTTCATCTCGGATGCCCATGTGGTGCTCTCTCTTCATCCTTCACC TCTCTGCTAACATGCTGCCCTCACTGCCTAGATGGTTTCATCTCAGATGT GCATGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCC TCACTGCCTAGATGGTTTCATCTCAGATGTGCATGTGGTGCTCTCTCTTC ATCCTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGATGGTTTCA TCTCAGATGTGCATGTGGTGCTCTCTCTTCATCCTTCACCTCTCTGCTAA CATGCTGCCCTCACTGCCTAGATGGTTTCATCTCGGATGCGCATGTGGTG TTCTGTCTTCATCCTTCACCTCTCTGCTAACATGCTGCCCTCACTGCCTA GATGGTTGTTACATCTTGGATGTCCATGTGGTGCCCTCTCTTCATCCTTC ACCTCTCTGCTAACATGCTGCCCTCACTGCCTAGATGGTTTCATCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GNG13_chr16_793041_805734	795584	G G	GCCCCCCC others(716): Show GCCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGC CCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCC AAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGC CCCGCCCCGCCCCTCCCCTCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	216	0.0046	723	c.31 others(734): Show c.3134_*3135insGGGGGAGGGGAGGGGCGGGGCGGGGCGGCACGGG GCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGG GCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGG GGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGG AGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG GGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGG GGCACGGGGCCGGGGGCAGCCACACGGGCAGCACAGGGGGGCGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2456		chr16	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(716): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCATCACCACCATCACACCAC CACCACCACCACAATCACCATCACCACCACCACCATAACCACCACCACCA CCACCATAATCACCATCACCACCACCACCACCACCATAACCACCACCACC ACCATAATCACCATCACCACCACCACCATCATCATCATCACCACCACCAC CATCACCACCACCACCACCATCATCATCACCACCACCACCACCATCACCA CCACCACCATCATCACCATCATCACCACCACTATCATCATCATCACCACC ACCATCACCACCACCACCACCATCATCATCACCACCATCACCACCACCAT CATCATCACCACCACCACCATCACCACCACCACCACCATGACCACCACCA CCACCCTCATCACCACCACCACCACCATCACCATTACCACTACCACCGCC ACCATCATCACCACCAGCACCACCAACACCATCATCACCACCACCACCAT CACCACCACCATCCCCATCATCAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0031 a0001c0005t0001g0031	1	3	0.3333	723	c.116 others(742): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCATCACCACCA TCACACCACCACCACCACCACAATCACCATCACCACCACCACCATAACCA CCACCACCACCACCATAATCACCATCACCACCACCACCACCACCATAACC ACCACCACCACCATAATCACCATCACCACCACCACCATCATCATCATCAC CACCACCACCATCACCACCACCACCACCATCATCATCACCACCACCACCA CCATCACCACCACCACCATCATCACCATCATCACCACCACTATCATCATC ATCACCACCACCATCACCACCACCACCACCATCATCATCACCACCATCAC CACCACCATCATCATCACCACCACCACCATCACCACCACCACCACCATGA CCACCACCACCACCCTCATCACCACCACCACCACCATCACCATTACCACT ACCACCGCCACCATCATCACCACCAGCACCACCAACACCATCATCACCAC CACCACCATCACCACCACCATCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
IFFO2_chr1_18899280_18961676	18925812	A A	ATGGATGG others(716): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	354	0.0028	723	c.666 others(740): Show c.666-4692_666-4691insACCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATC CATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(716): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGG TGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGG GATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGA TGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGAGGGATA GATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGA GGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTG GGTGGAGGAATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGT GGGTGGGTGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAG GTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGAT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGGATAG ATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGG GATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGG TGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTG GGTGGGTGGAGGGATAGATGGGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0033 a0033	a0033c0121 a0033c0121	a0033c0121t0001 a0033c0121t0001	a0033c0121t0001g0078 a0033c0121t0001g0078	1	117	0.0085	723	c.450 others(740): Show c.450+1910_450+1911insCCCCCATCTATCCCTCCACCCACCCACC CACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCA CCCATCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTC CACCCACCCACCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTAT CCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCATCT ATCCCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACCTAC CTATCCTTCTACCCACCCATCCACCCATCTATCCCTCCACCCACCCACCA CCCATCTATCCCTCCACCCACCCACCCCCCCATCTATTCCTCCACCCACC CACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCA CCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATC CCTCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCA CCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTC CACCCACCCATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCA CCCATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACC CACCTACCTATCCTTCTACCCACCCACCCATCTATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(716): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATATTTATATATATATTTATATATATATT ATTTATATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18951.hp1 NA18975.hp1 others(1): Show NA18947.hp2 NA18951.hp1 NA18975.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0159 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0159 a0001c0001t0012g0025	4	73	0.0548	723	c.125 others(740): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATATTATTTATATATATATTTATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(716): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATGTATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATATTTATATATATATTTATATATATATT ATTTATATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02735.hp1 HG04184.hp2 others(1): Show HG02486.hp1 HG02735.hp1 HG04184.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0068 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0127	4	73	0.0548	723	c.125 others(740): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATGTATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATATTATTTATATATATATTTATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610989	C C	CGGGTGAG others(716): Show CGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGT GTTGACGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGTGGGTGAGGGTGA GGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGAGGGTGCTGATGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCA GGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGG AGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGG GTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGA GCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGG TGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGT GCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACG GAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGCGGGTGAG GGTGCTGATGGAGTGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGG TGAGGGTGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	37	0.0270	723	c.717 others(740): Show c.717-2264_717-2263insCGGGTGAGGGTGCTGATGGAGCGGGTGA GGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGTGG GTGAGGGTGAGGGTGCTGATGGAGCGGGTGCGGGTGAGGGTGAGGGTGCT GATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGG TGCGGGTGCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGG GTGCTGATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGT GAGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGG TGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTG AGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGT GAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGA GGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATG GAGCGGGTGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAG GGTGTTGACGGAGCGGGTGAGGGTGAGGGTGCTGATGGAGCGGGCGAGGG TGCGGGTGAGGGTGCTGATGGAGTGGGTGAGGGTGAGGGTGTTGACGGAG CGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579135	C C	CCACCACC others(716): Show CCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCAC CACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCACCACCATCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCATCACCATCACCACCACCACCA CCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCA CCATCACCACCACCACCACCATCACCATCACCACCACCATCACCATCACC ACCACCACCACCACCCTTCACCAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0250 a0001c0003t0002g0250	1	342	0.0029	723	c.391 others(738): Show c.391+642_391+643insCCACCATCACCACCACCACCCTTCACCACC ACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCA CCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCATC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCATCACCAT CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCAT CACCACCACCACCACCATCACCACCACCACCACCATCACCATCACCACCA CCATCACCATCACCACCACCACCACCACCCTTCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GGGAAGGG others(716): Show GGGAAGGGGGGAAGGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGG AAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGGAGGG GCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGG AAGGGGGGAAAGGGGTGGGGGGAAGGGGGGGAAGGGGAAAGGGGTGAGGG GAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGA GGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGAGGGGGGGAGGGGA GGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAG TGGAGGGGGAGGGGGAGGGAGGAGGATGGGAGTGGAGGGGGAGGGGGAGG GAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGGAAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	213	0.0047	723	c.250 others(738): Show c.250+583_250+584insACCCTCCCTTCCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCTCCTCCCTCCCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCA CCCCTTTCCCCTTCCCCCCCTTCCCCCCACCCCTTTCCCCCCTTCCCCCC GCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCC CCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCCCTTCCCCCCTTCC	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(716): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCC GGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGC CCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00408.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	2	7	0.2857	723	c.-8+ others(736): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(716): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATAAGATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTAT ATATATATAAGATTTTATATATATATAAAATAAGATTTTATATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	242	0.0041	723	c.-5+ others(738): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TCTTATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTAT ATATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATA TAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATA TATCAAATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(716): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATATAAAATAAGATTTTAT ATATATATAAGATTTTATATATATATAAAATAAGATTTTATATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	242	0.0041	723	c.-5+ others(738): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATATAAAATCTTATTTTATATA TATATAAAATCTTATTTTATATATATATAAAATCTTATATATATATAAAA TCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATA TAAAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAA TAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTAT ATATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATA TAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATA TATCAAATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(716): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGT AAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTC AAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAACCAA AACCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCAGA GGACCTAAATATATATATATAAATATATAAATATAAATATATAAATATAT ATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTA TATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTAT ATATTTATATAAATATAAATATATAAATATATATAATTATATATATATTT AGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	8	0.1250	723	c.293 others(742): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTA TATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGAC AAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATAT AACTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGA CCTAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAAT ATATATATATAAATATATAAATATAAATATATAAATATATATATATAATT ATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATA TATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATAT AAATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTG GTTTTGGTTATATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40203833	A A	ATAAATAT others(716): Show ATAAATATATAATATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTAATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATAATTTTATAAATTA TATAATTTATATATTATATATAATATATTTATATTAAATATATATTTATA TATTATATATAATATATTTATATTAAATATATATTTATATATTATATATA ATATATTTATATTAAATATATATTTATATATTATATATAATATATTTATA TTAAATATATATATTATATATAATATATTTATATTAAATATATTATATAT AATATATTTATATTAAATATTATATATTTATATATTATATATTTATATTA AATATTATATATTTATGTTATATAATATATTTATATTAAATATTATATAT TTATATATTATATATAATATATTTATATTAAATGTTATATATTTATATAT TATATATAATATATTTATATTAAATGTTATATATTTATATATTATATATA ATATATTTATATTAAATGTTATATATTTATATATTATATATAATATATTT ATATTAAATATTATATATTTATATATTATATATAATATATTTATATTAAA TATTATATATTTATATATTATATATATTTATATTGAATATTATATATTTA TATATTATATAAATATTATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG02895.hp1 others(3): Show HG02258.hp2 HG02630.hp1 HG02895.hp1 HG02896.hp2 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0014 a0001c0004 a0001c0006 a0001c0014	a0001c0004t0001 a0001c0006t0006 a0001c0014t0007 a0001c0004t0001 a0001c0006t0006 a0001c0014t0007	a0001c0004t0001g0079 a0001c0006t0006g0084 a0001c0006t0006g0085 others(3): Show a0001c0004t0001g0079 a0001c0006t0006g0084 a0001c0006t0006g0085 a0001c0006t0006g0088 a0001c0006t0006g0089 a0001c0014t0007g0090	6	96	0.0625	723	c.166 others(742): Show c.1666-6019_1666-6018insAATATATAATATATATTTATATATAA ATATTTATATTTTATATATTTATATATTTTATATATTAATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATAATTTTATAAATTATATAATTTATATATTATATATAATATATT TATATTAAATATATATTTATATATTATATATAATATATTTATATTAAATA TATATTTATATATTATATATAATATATTTATATTAAATATATATTTATAT ATTATATATAATATATTTATATTAAATATATATATTATATATAATATATT TATATTAAATATATTATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATTTATATTAAATATTATATATTTATGTTATATAATATA TTTATATTAAATATTATATATTTATATATTATATATAATATATTTATATT AAATGTTATATATTTATATATTATATATAATATATTTATATTAAATGTTA TATATTTATATATTATATATAATATATTTATATTAAATGTTATATATTTA TATATTATATATAATATATTTATATTAAATATTATATATTTATATATTAT ATATAATATATTTATATTAAATATTATATATTTATATATTATATATATTT ATATTGAATATTATATATTTATATATTATATAAATATTATATATTTA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(716): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCG CCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCC CCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCC GGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCT CCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCT CTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCC CCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTC GGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCT CCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCG CCTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCC CCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0012 a0004c0020t0012	a0004c0020t0012g0003 a0004c0020t0012g0003	1	242	0.0041	723	c.47 others(734): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCCGGCAG ACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGT CTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGC AGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGC CCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAG ACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGT CTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGC AGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGC CCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAG ACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTG TCTCCGCCTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(716): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCCC CCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTT CCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0020 a0001c0001t0015g0020	1	30	0.0333	723	c.433 others(740): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGG GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(716): Show GCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTGAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGT CCCCCTCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGAC CCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGA CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACA GGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCC CCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCT CCCAACGTCCCCCTCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CTGGGCCCCCAGGGACCCTCCCAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	307	0.0033	723	c.981 others(740): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGCCCAGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTC TCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCG TTCTCCTGTTCTGAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGT CCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGAGGGGGACGTTGGGAGGG TCCCTGGGGGCCCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGG CGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTT CTCAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGTCCC GCTGTGCGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCC CTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGAGGGGGACGT TGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTCAGGCTGG GCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTT CTCCTGTTCTGAGGCTGGGCGGGAGGGGGGGAGAGCCGGGGGACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(716): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCC GGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGC CCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00408.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0118 a0001c0001t0002g0001 a0001c0001t0002g0118	2	6	0.3333	723	c.15 others(734): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PHF21B_chr22_44876162_45015005	44984136	A A	ACCACCAT others(716): Show ACCACCATCACCACCATCATCACCATCACCACCACCATCACCACCACCAC CATCATCATCACCATCATCACAACCACCACCATCGTCACCACCATAACCA ACACCATCACAACCACCACCATCACCATAACCATCACCACCATCATCACC ATCACCACCACCATCATCACCATCACCACCACCATCACCATCACCACCAT CACCACCATCATCACCACCACCACCACCACCACCATCACCATCACCATCA CCACCACCATCACTACCATAACCACCATCACCATCATCACCATCATTACC ACCATCATCATCACCATCACCACCACCATCATCACCACCATCATCACCAT AACCACCACCACCATCACCATAACCATCACCACCATCACCATCACCACTA CCGTCACCATCACCACCACCATCACTACCATCACCATCACCACCACCATT ATCACCATCACCACCATCATCACCACCATCACCACCATCATCACCATCAC CACCACCATCACGATTATCACCATCACCGCCATCATTACCACCATCATCA CCATCACCACCACCATCACCACCGCCACCATCATCATCATCACCACCACC ACCATCACCAGCGCCACCACCACCATCACCATCACCACCACCACCATCAC CATCACCACCATCATCACCATTATCATCACCATTGTCACCATTATCACCA TCATCACCATTATCACCATTATCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	297	0.0034	723	c.120 others(742): Show c.120+24408_120+24409insGGATAATGGTGATAATGGTGATGATG GTGATAATGGTGACAATGGTGATGATAATGGTGATGATGGTGGTGATGGT GATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGCGCTGGTGATGGTGG TGGTGGTGATGATGATGATGGTGGCGGTGGTGATGGTGGTGGTGATGGTG ATGATGGTGGTAATGATGGCGGTGATGGTGATAATCGTGATGGTGGTGGT GATGGTGATGATGGTGGTGATGGTGGTGATGATGGTGGTGATGGTGATAA TGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGGTGATGGTGACGGTA GTGGTGATGGTGATGGTGGTGATGGTTATGGTGATGGTGGTGGTGGTTAT GGTGATGATGGTGGTGATGATGGTGGTGGTGATGGTGATGATGATGGTGG TAATGATGGTGATGATGGTGATGGTGGTTATGGTAGTGATGGTGGTGGTG ATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGAT GGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTGTGATGGTGTTG GTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTGATGATGATGGT GGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(716): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCATCACCATCACCATCACCACCACCATC ACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCAT CACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCA CCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACC ATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCAT CACCACCATCATCACCACCATCATCACCATCACCACCATCATCACGATTA TCACCATCACCGCCATCATTACCACCATCATCACCATCACCACCACCATC ACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGCCACCAC CACCATCACCATCACCACCATCACCATCGCCACCATCATCACCATTATCA TCACCATTGTCACCATTATCACCATCATCACCATTATCACCATTATCCTC ACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	70	0.0143	723	c.120 others(742): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGATGGTGATGGTGGT GGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGA TGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATA ATCGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGATGGTGGTGAT GGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGGTGATGG TGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTG GTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGTGATGGTGAT GATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGGTAGTGA TGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGATG GTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGT GGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTGTGA TGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTGATG ATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(716): Show AGGGGGATGTGGGAGATGAGGGGGACGCGGGGGACGGGGGGGACGCGGGG GACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGC GGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGG GGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGC GGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGACG CGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGCGG GGGGACGCGGGGGACGGGGGGGACGGGGGGGGGACGCGGGGGGGACGCGG GGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGG GACGGGGGGGGCGCGGGGGACGGGGGGGGCGGGGGGGGACGGGGGGGACA CGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACGG GGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGACGCGGGGGACGGGGGG GACGGGGGGGGACGGGGGGGGCGCGGGGGACGGGGGGGGCGGGGGGGGCG GGGGGGGGCGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGG GGACGCGGGGGGGACGCGGGGGGACGCGGGGGGGACGCGGGGGACGGGGG GGACGCGGGGGACGCGGGGGACGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	82	0.0122	723	c.147 others(740): Show c.1474-959_1474-958insGCGTCCCCCGCGTCCCCCGCGTCCCCCC CGTCCCCCGCGTCCCCCCCGCGTCCCCCCGCGTCCCCCCCGCGTCCCCCC CGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCCCCCCCCCGCC CCCCCCGCCCCCCCCGTCCCCCGCGCCCCCCCCGTCCCCCCCCGTCCCCC CCGTCCCCCGCGTCCCCCCCGTCCCCCCCGCCCCCCCCGCCCCCCCCCGT CCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTGTC CCCCCCGTCCCCCCCCGCCCCCCCCGTCCCCCGCGCCCCCCCCGTCCCCC CCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGC GTCCCCCCCGCGTCCCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCGC GTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTC CCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCGCGT CCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCC CGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGT CCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCC GCGTCCCCCCCGTCCCCCGCGTCCCCCTCATCTCCCACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(716): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCC ACCCACCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAAC CCATCCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCACCC ACCCACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCACC CACCCATCTACCTTTCTCTCCACCTATTCACCCATCCACCCACCCACCCA TCTACCTTCCTCTCCATCTATTCAACTATCCACCCACCCACCCACCTATC CACTTTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0219 a0001c0002t0014g0219	1	2	0.5000	723	c.438 others(740): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATG GAATGGGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGA TGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATG GGGTAGGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAA AGGGATGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGG GATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	140	0.0071	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATG GAATGGGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGA TGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATG GGGTAGGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAA AGGGATGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGG GATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	140	0.0071	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATG GAATGGGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGA TGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATG GGGTAGGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAA AGGGATGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGG GATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03209.hp2 HG00741.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0239 a0001c0001t0001g0251	2	141	0.0142	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATG GGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGG ATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTA GGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGA TGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG GATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02647.hp2 others(4): Show HG02145.hp1 HG02486.hp2 HG02647.hp2 HG02717.hp2 HG03209.hp1 HG03579.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 others(4): Show a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0229 a0002c0002t0001g0230	7	146	0.0479	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGG GATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGG ATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	140	0.0071	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCA TCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0099 a0002c0006t0001g0099	1	140	0.0071	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	140	0.0071	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp2 others(5): Show HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01433.hp1 HG02015.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0215 a0002c0002t0001g0091 a0002c0002t0002g0001 others(4): Show a0001c0001t0001g0215 a0002c0002t0001g0091 a0002c0002t0002g0001 a0002c0002t0002g0073 a0002c0002t0002g0086 a0002c0002t0003g0055 a0002c0002t0003g0056	8	147	0.0544	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18522.hp2 HG02735.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0022 a0001c0001t0001g0035	2	141	0.0142	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG03492.hp2 others(6): Show HG00140.hp1 HG01069.hp1 HG03492.hp2 HG03704.hp1 NA18747.hp2 NA19012.hp2 NA19055.hp2 NA19065.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0007t0001	a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 others(6): Show a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0007g0266 a0001c0001t0017g0238 a0001c0007t0001g0272	9	148	0.0608	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCC ATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGG ATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0049 a0003c0005t0001g0049	1	140	0.0071	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCA TCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACAT CCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCC ATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATC CACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTA TCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATC CCATCCTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCA CCCCATCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCC ACATCCCATTCCATCCCATCCCATCTACATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(716): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCC GCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTG GGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG AGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACC ACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGC CCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGG CGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAG CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	375	0.0027	723	c.-14 others(734): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGA GCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCA CCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCC CTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGC GGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGC ACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACC CGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0267 a0001c0002t0006g0267	1	179	0.0056	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCAG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGACTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(21): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG01123.hp2 HG01361.hp2 HG02145.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 NA18747.hp1 NA18950.hp1 NA18960.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0002g0009 a0001c0001t0002g0021 others(18): Show a0001c0001t0001g0006 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0244	24	202	0.1188	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGACTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02698.hp1 HG03098.hp1 others(1): Show HG01978.hp1 HG02698.hp1 HG03098.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0003 a0001c0001t0008 a0001c0003t0003	a0001c0001t0008g0262 a0001c0003t0003g0010 a0001c0003t0003g0255 others(1): Show a0001c0001t0008g0262 a0001c0003t0003g0010 a0001c0003t0003g0255 a0001c0003t0003g0257	4	182	0.0220	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01167.hp2 HG01169.hp1 others(20): Show HG00544.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01934.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA18957.hp1 NA18957.hp2 NA18967.hp1 NA18979.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0033 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0173 a0001c0001t0001g0179	23	201	0.1144	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAACAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar

Search by Variant

Search

Search Results