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
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(771): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACC CCGGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	376	0.0027	778	c.15 others(789): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(771): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	778	c.15 others(789): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(771): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCCGGC CCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	376	0.0027	778	c.15 others(789): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PGAP6_chr16_365788_386978	370393	A A	ACCCCTGC others(771): Show ACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTC CTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGG CTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCC GGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGC CCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC CGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGGCTCTCACTCCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	778	c.15 others(789): Show c.1593_*1594insGTAGGGAGTGAGAGCCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		394		chr16	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCTGCA others(771): Show CCCCTGCACACCCCCACCCCCTCCCCGCACACCCCACAACCTCCCCCTGC ACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCATACCCCACAACCT CCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGCA CACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCC ACCCCCTCCCCACACACGCACACCCCACCCCCTCCCCGCACACCCCCACC CCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACCCCCTCCCCT GCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACC CCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCACCCCC TCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACCCCACCCCCTC CCCGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCAC ACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCAT CCCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCC CCGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACAC GCACACCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACACCCC CATCCCCTCCCCTGCACACCCCACCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0023 a0023	a0023c0064 a0023c0064	a0023c0064t0010 a0023c0064t0010	a0023c0064t0010g0190 a0023c0064t0010g0190	1	210	0.0048	778	c.147 others(795): Show c.1477+391_1477+392insTGCACACCCCCACCCCCTCCCCGCACAC CCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAA CCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCC CTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACA CCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCC CCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACCCCACCCCC TCCCCGCACACCCCCACCCCTCCCCGCACACCCCCATCCCCTCCCCTGCA CACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCA TCCCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTC CCCGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACA CGCACACCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACACCC CCATCCCCTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCC CTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACAACCTCCCCTG CACACCCCCACCCCCTCCCCGCACACCCCACCCCCTCCCCTGCACACCCC CACCCCCTCCCCACACACGCACACCCCACCCCCTCCCCGCACACCCCCAC CCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACCCCCTCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(771): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC CTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCA GCCCTGTCATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0338 a0001c0008t0004g0338	1	340	0.0029	778	c.227 others(795): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCT GTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAG CCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC GGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PTPRT_chr20_42067756_43194906	43095827	A A	ACCCTCCT others(771): Show ACCCTCCTTCTCTCTCCCGTCTCTCTTCTCTCCTCTTCTCTCTCCACCCT CCCTCTCTTTTCCCCTCTCCCACCTCTCTCCTCCCCCACCCACCTTCTGT CACTCCCTCTCCCTCTCTCTCCTGTCTCTCTTCTCTCTCTCCTTCTCTCT CTGCCCTCTCCCTCTCTTTTCCTCTCTCTCCCACACTTCTCTCCTCCCCC CTTTCTCTCCCCCACCCACCTTCTCTCTCTCTCCCTCTCTCTCTTCTCTC TTTCCACCCTCCCTCTCTCTTTCCACCCTCCCTCTCTCTTTCCACCCTCC CTCTCTTTTTCCCTTCTCTCTCCCTACCACCTCTCGCCTCCCTCTTTCTC TTCCCCAACCACCTCTCTCTCTCTTCCTCACTCTCCTCTCTTCTCTCTTT CCACCCTCCCTCTCTTCCCCTCTCTCCCCACCTCTCTCCTCCTTCTCTTT CTCTCCTCCCACCCACTTGCTCTCTCCCTCCCTGTCTCCCTTCCCTTTCC CTCTCCCTCTCCCTCTCTCTCTCTCCTTCTCTCTTTCCACCCTCCCTCTC TTCCCCTCTCTGTCCCCACCTCTCTCCTCCCCCTCTTTCTCTCCTCCCAC ACGCCTGCTCTCTCCCTCCCTCTCTCCCTTCCCTTTCCCTCTCTCTCTCC CTCTCCCTGTCTCTCTCCTTCTCTCTTTCCACCCTCCCTCTCTCTCTTCC CCTCTGTCTCCCCACTCTCTCCTCCCCCTCTCTCTCCTCCCACCTGCCTG CTCTCTCTCTCCCTCTCTCCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03209.hp1 NA21309.hp2 HG01109.hp2 HG03209.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0001c0018 a0003c0020 a0001c0008 a0001c0018 a0003c0020	a0001c0008t0005 a0001c0018t0003 a0003c0020t0016 a0001c0008t0005 a0001c0018t0003 a0003c0020t0016	a0001c0008t0005g0037 a0001c0018t0003g0030 a0003c0020t0016g0029 a0001c0008t0005g0037 a0001c0018t0003g0030 a0003c0020t0016g0029	3	62	0.0484	778	c.88+ others(795): Show c.88+93818_88+93819insAAAGGGAAGGGAGAGAGGGAGAGAGAGA GCAGGCAGGTGGGAGGAGAGAGAGGGGGAGGAGAGAGTGGGGAGACAGAG GGGAAGAGAGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGACAGGGAGA GGGAGAGAGAGAGGGAAAGGGAAGGGAGAGAGGGAGGGAGAGAGCAGGCG TGTGGGAGGAGAGAAAGAGGGGGAGGAGAGAGGTGGGGACAGAGAGGGGA AGAGAGGGAGGGTGGAAAGAGAGAAGGAGAGAGAGAGAGGGAGAGGGAGA GGGAAAGGGAAGGGAGACAGGGAGGGAGAGAGCAAGTGGGTGGGAGGAGA GAAAGAGAAGGAGGAGAGAGGTGGGGAGAGAGGGGAAGAGAGGGAGGGTG GAAAGAGAGAAGAGAGGAGAGTGAGGAAGAGAGAGAGAGGTGGTTGGGGA AGAGAAAGAGGGAGGCGAGAGGTGGTAGGGAGAGAGAAGGGAAAAAGAGA GGGAGGGTGGAAAGAGAGAGGGAGGGTGGAAAGAGAGAGGGAGGGTGGAA AGAGAGAAGAGAGAGAGGGAGAGAGAGAGAAGGTGGGTGGGGGAGAGAAA GGGGGGAGGAGAGAAGTGTGGGAGAGAGAGGAAAAGAGAGGGAGAGGGCA GAGAGAGAAGGAGAGAGAGAAGAGAGACAGGAGAGAGAGGGAGAGGGAGT GACAGAAGGTGGGTGGGGGAGGAGAGAGGTGGGAGAGGGGAAAAGAGAGG GAGGGTGGAGAGAGAAGAGGAGAGAAGAGAGACGGGAGAGAGAAGGAGGG	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RPEL1_chr10_103240887_103253016	103251079	A A	ACCACCAC others(771): Show ACCACCACCATCACCACCACCAACACCACCCACCACCACGCACCACCACC ACCACACAACCATCACCACCACCAACCCACCCCACCACACCACCACCACC ACCACACCACCACCACACCACCACCACCACCATCACCACCTCCCACCACC ACCACCACCACCACCACCCACCACCACCACCACACCACCACCACCACACC ACCCACCACCACACCCCACCACCACCACCACCACCACCACCACCACCACC AACACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CACACCACCCACCACCACCACTCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCACACCATCACCACCTCCACCACCACACCACCACCA CCACCACACCACTCACCACCATCCACCACCTCACCACCTCCACCACCACC ATCACACCTCCACCACCATCACCACCTCCACCACCACCACCACCTCACCA CCAACCCACCACCACACCACCATCCCACCTCCACCATCACCACCACCACC ACATCACCACCTCCACCACCACCCACCACCACCACCATCACCACCACCAC CACCCACACCACCACCACCACCACCACCACCATCACCACCACCACCACCA TCACCACCACCACCACACACCATCCACCACCACCATCACCACCACCACCA CCATCACCACCACCACCACCATCACCACCTCCACCACTCACCACCACCAC CACCATCACCACCTCCACCATCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	1	375	0.0027	778	c.43 others(789): Show c.4396_*4397insCCACCACCATCACCACCACCAACACCACCCACCA CCACGCACCACCACCACCACACAACCATCACCACCACCAACCCACCCCAC CACACCACCACCACCACCACACCACCACCACACCACCACCACCACCATCA CCACCTCCCACCACCACCACCACCACCACCACCCACCACCACCACCACAC CACCACCACCACACCACCCACCACCACACCCCACCACCACCACCACCACC ACCACCACCACCACCAACACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCACACCACCCACCACCACCACTCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCACACCATCACCACCTCCACC ACCACACCACCACCACCACCACACCACTCACCACCATCCACCACCTCACC ACCTCCACCACCACCATCACACCTCCACCACCATCACCACCTCCACCACC ACCACCACCTCACCACCAACCCACCACCACACCACCATCCCACCTCCACC ATCACCACCACCACCACATCACCACCTCCACCACCACCCACCACCACCAC CATCACCACCACCACCACCCACACCACCACCACCACCACCACCACCATCA CCACCACCACCACCATCACCACCACCACCACACACCATCCACCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCATCACCACCTCCACC ACTCACCACCACCACCACCATCACCACCTCCACCATCACCACCT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3064		chr10	TogoVar
RPH3AL_chr17_207389_357807	355862	A A	AACAGTCG others(771): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGT CGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAG GCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCA CCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACT CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCT CCACAGGCGACCGCGCACCACACACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	133	0.0075	778	c.-33 others(789): Show c.-3364_-3363insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3056		chr17	TogoVar
SCARA5_chr8_27864883_27997673	27918976	G G	GGAGGAGG others(771): Show GGAGGAGGAGGAGAAGGAGGAGGAGGAGAAAGAGGAGGAGGAGGAAGAGG AGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACAG GAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGAA GGAGAAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGG AGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAG GAGGAGGAGAAGGCAGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAA GAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAGAGGAGG AGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAG GAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGA GGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGA GGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAG AGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGG AGGAGAGAATAGAGGAGGAGGAGGGAATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	314	0.0032	778	c.916 others(795): Show c.916+2594_916+2595insTATTCCCTCCTCCTCCTCTATTCTCTCC TCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTC TCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCC CTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTC CTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCT CCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTC TCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTT CTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCTGCCTTCTCCTCCT CCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTTCTC CTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCT CCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTCTCCTCCTCCTTTT CTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCT TCTCCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTTCCCCTCCTCC TCCTTTTCTCTTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCC TCCTCTTCCTCCTCCTCCTCTTTCTCCTCCTCCTCCTTCTCCTCCTCCTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289629	T T	TCCGTCCC others(771): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	290	0.0035	778	c.166 others(795): Show c.1663-612_1663-611insTCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GCGATTGT others(771): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATG GTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATGGTGGT GATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0053 a0001c0001t0011g0053	1	150	0.0067	778	c.914 others(795): Show c.914-2409_914-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GCGATTGT others(771): Show GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATG GTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTG GGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATGGTGGT GATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0006 a0001c0001t0018g0006	1	158	0.0063	778	c.860 others(795): Show c.860-2409_860-2408insCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGG TGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTG GTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTG GTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGAT GTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGAT GGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10			chr17	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(771): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGG AGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGG AGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGA GGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGC AGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGA GGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGA GGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGA GGGAGAAAGGAAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	350	0.0029	778	c.624 others(793): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCT CCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCT CCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTT CACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCC CTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTT CTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTC TCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTC TCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SPATC1L_chr21_46156160_46189459	46169756	A A	AACATCCT others(771): Show AACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAGCATCCTCTG TGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGG AGCCTCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTT TGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCT CTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGG GAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCC TGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAG CATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTG GATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGG AGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCT CTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCAT CCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTC CAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGTGGAGGAGCC CCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGT GAGCATCCTCTGTGGATGGGGAGGAGCCCCTGCTCTGTGAGCATCCTCTG TGGATGGGGAGGAGCCTCCTGCTCTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0004 a0012c0011t0004	a0012c0011t0004g0160 a0012c0011t0004g0160	1	251	0.0040	778	c.194 others(795): Show c.194-1099_194-1098insACACAGAGCAGGAGGCTCCTCCCCATCC ACAGAGGATGCTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCT CACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGG GGGCTCCTCCACATCCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCT GGACCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAG GATGCTCACAGAGCAGGGAGGCTCCTCCCCATCCACAGAGGATGTTCACA GAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGC TCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCAT CCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGAT GCTCACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGC AGGGGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGGGGCTCCT CCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACA GAGGATGCTCACAGAGCAGGGGCTCCTCCCCATCCACAGAGGATGCTCAC AAAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGAGGC TCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGGCTCCTCCCCATCC ACAGAGGATGCTCACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
TCF3_chr19_1604292_1657615	1628079	G G	GCTCACAG others(771): Show GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGG TGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGGGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCAT GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGTGGGAAGGGGACAGCAGAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0057 a0002c0001t0057	a0002c0001t0057g0158 a0002c0001t0057g0158	1	352	0.0028	778	c.299 others(793): Show c.299-654_299-653insTTCTGCTGTCCCCTTCCCACCTCACCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTGCTGTCCCC TTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCA TGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCATGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTG CTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCAC CTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(771): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATCATATATATTTATATATTATATATTATATATTTATATTTTATTTTT ATATTTATATTATATATATATTTTTATATTTATATTTATATATTATTATA TTATATTTATATATTATATAAAAATATATATCATATATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAATATATATCATATATATTTATATATT AAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02683.hp2 HG01361.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0004g0098 a0001c0003t0001g0088 a0001c0002t0004g0098 a0001c0003t0001g0088	2	128	0.0156	778	c.143 others(799): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATCA TATATATTTATATATTATATATTATATATTTATATTTTATTTTTATATTT ATATTATATATATATTTTTATATTTATATTTATATATTATTATATTATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAATATATATCATATATATTTATATATTAAAAAT ATATATCATATATATTTATATATTAAAAATATATATCATATATATTTATA TATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(771): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATCACATATATTTATATATT GTATAAAAATATATATATCATATATATTTATATATTATATAAAAATATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAATATATATCATATATATTTATATATT AAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	128	0.0078	778	c.143 others(799): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATCACATATATTTATATATTGTATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATATTATATATTTATATTTTATTTTTATATTTATATTATATATATATT TTTATATTTATATTTATATATTATTATATTATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAATATATATCATATATATTTATATATTAAAAAT ATATATCATATATATTTATATATTAAAAATATATATCATATATATTTATA TATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(771): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATCATATATATTTATATATT GTATAAAAATATATATATCATATATATTTATATATTATATAAAAATATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAATATATATCATATATATTTATATATT AAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01175.hp1 others(5): Show HG00639.hp1 HG01071.hp1 HG01175.hp1 NA18942.hp2 NA18946.hp1 NA18962.hp2 NA19060.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0011 others(2): Show a0001c0002 a0001c0003 a0001c0011 a0001c0018 a0002c0001	a0001c0002t0001 a0001c0002t0004 a0001c0002t0049 others(4): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0049 a0001c0003t0055 a0001c0011t0001 a0001c0018t0001 a0002c0001t0002	a0001c0002t0001g0015 a0001c0002t0004g0112 a0001c0002t0004g0114 others(5): Show a0001c0002t0001g0015 a0001c0002t0004g0112 a0001c0002t0004g0114 a0001c0002t0049g0124 a0001c0003t0055g0108 a0001c0011t0001g0034 a0001c0018t0001g0074 a0002c0001t0002g0030	8	128	0.0625	778	c.143 others(799): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATCATATATATTTATATATTGTATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATATTATATATTTATATTTTATTTTTATATTTATATTATATATATATT TTTATATTTATATTTATATATTATTATATTATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAATATATATCATATATATTTATATATTAAAAAT ATATATCATATATATTTATATATTAAAAATATATATCATATATATTTATA TATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(771): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATCATATATATTTATATATT GTATAAAAATATATATATCATATATATTTATATATTATATAAAAATATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAATATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAATATATATCATATATATTTATATATT AAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0035 a0008c0015t0001g0035	1	128	0.0078	778	c.143 others(799): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATCATATATATTTATATATTGTATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATATTATATATTTATATTTTATTTTTATATTTATATTATATATATATT TTTATATTTATATTTATATATTATTATATTATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AATATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAATATATATCATATATATTTATATATTAAAAAT ATATATCATATATATTTATATATTAAAAATATATATCATATATATTTATA TATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930961	T T	TGGAGGCT others(771): Show TGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCAGGGG TTAGGGAGGCCGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGG GAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CAGGGGTCAGGGAGGCCAGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCAG GGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCAGGGATTATGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC AGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTA GGGAGGCAGGGATTATGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGT TAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCAGGGGTTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	466	0.0022	778	c.46 others(789): Show c.4629_*4630insCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCC TGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCAGCCTCCATAATCCCTGCCTCCCTAACC CCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCT AACCCCAGCCTCCCTAACCCCAGCCTCCATAATCCCTGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGC CTCCCTAACCCCGGCCTCCCTGACCCCTGGCCTCCCTGACCCCTGGCCTC CCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCGGCCTCCCTAACCCCT GGCCTCCCTGACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCT AACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4408		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238871076	C C	CATACACA others(771): Show CATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCTACACACACCACACACCC CACACACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	338	0.0030	778	c.35 others(797): Show c.35+22343_*35+22344insATACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCTACACACACCACACACCCCACACACACCACACCCCATACACACCA CA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(771): Show ACACACACCACACACCCCACACACACCACACAAACCACACACCCTACACA CCCCACACACACCACACACACACATCACATACCACACACACATCACATAC CACACACAAACCACACACCACACACACACCACACACCCCACACACACATC ACATACCACACACAAACCACACACCCAACACACACATCACACACCACACA CCCCACACACACATCACATACCACACACAAACCACACACCCTACACACAC CACACACCCCACACACACATCACACACCACACACACCACACACACCCCAC ACACACCACACACACACATCACATACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACACCACACACCCCACACACACCACACACACACACCACACACA CATCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCC ACACACACCACACACCCCACACACACACCACACACCCCACACACACATCA CATACCACACACAAACCACACACCCCACACACCCCACACACCACACACAC ACCACACACCCCACACACACATCACATACCACACACAAACCACACACCCT ACACACACCACACACCCCACACACACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG03688.hp1 HG01070.hp1 HG01071.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0253 a0001c0001t0001g0001 a0001c0001t0003g0253	3	338	0.0089	778	c.35 others(797): Show c.35+22439_*35+22440insCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACCCCACACACACATCACATACCACACACAAACCACACACCCTAC ACACACCACACACCCCACACACACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACCCCACACACCCCACACACACCACACACCACACACCCCACACAC AC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(771): Show ACACACACCACACACCCCACACACACCACACAAACCACACACCCTACACA CCCCACACACACCACACACACACATCACATACCACACACACATCACATAC CACACACAAACCACACACCACACACACACCACACACCCCACACACACATC ACATACCACACACAAACCACACACCCAACACACACATCACACACCACACA CCCCACACACACATCACATACCACACACAAACCACACACCCTACACACAC CACACACCCCACACACACATCACACACCACACACACCACACACACCCCAC ACACACCACACACACACATCACATACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACACCACACACCCCACACACACCACACACACACACCACACACA CATCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCC ACACACACCACACACCCCACACACACACCACACACCCCACACACACATCA CATACCACACACAAACCACACACCCCACACACCCCACACACCACACACAC ACCACACACCCCACACACACATCACATACCACACACAAACCACACACCCT ACACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	338	0.0030	778	c.35 others(797): Show c.35+22439_*35+22440insCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACCCCACACACACATCACATACCACACACAAACCACACACCCTAC ACGCACCACACACCCCACACACACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACCCCACACACCCCACACACACCACACACCACACACCCCACACAC AC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(771): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTG TGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGA TTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTG TTGTTGGAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGT GGTGTGATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTG AGTTATGTGACTTGGTTGTTGAAAGTGGTGTGATCTGTGACATTTGTGAT TTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGG AGGTGATGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCT CTGAGTTATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGT GATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTG TTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTG GTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGA TCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02451.hp2 others(4): Show HG01243.hp2 HG02109.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0037 a0001c0046 a0001c0006 a0001c0037 a0001c0046	a0001c0006t0012 a0001c0006t0013 a0001c0006t0022 others(2): Show a0001c0006t0012 a0001c0006t0013 a0001c0006t0022 a0001c0037t0013 a0001c0046t0012	a0001c0006t0012g0146 a0001c0006t0013g0332 a0001c0006t0013g0334 others(4): Show a0001c0006t0012g0146 a0001c0006t0013g0332 a0001c0006t0013g0334 a0001c0006t0013g0335 a0001c0006t0022g0147 a0001c0037t0013g0333 a0001c0046t0012g0128	7	346	0.0202	778	c.542 others(795): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGT GGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTG TGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTCTGA TTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTGATTTGGTTGTTG GAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGAAAGTGGTGTGAT CTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTT GTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTTTGTGATTTGTTG TTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGTTGGAGGTGGTGT GCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGA GATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGA TTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTC TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF236_chr18_76817557_76977901	76967266	T T	TATTTGGT others(771): Show TATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGT TGGAGGTGATGTGATTCGTGAGATGTGTTATTTGGTTGTTGGAGGTGGTG TGATCTGTGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGA TTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTG TTGTTGGAGGTGGTGTGATCTGTGAGATTTCTGATTTGGTTGTTGGAGGT GGTGTGATCTGTAAGATTTCTGATTTGGTTGTTGGAGGTGGTGTGCTCTG AGTTATGTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTTGTGAT TTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTTGTTGG AGGTGATGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGTGTGCT CTGAGTTATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGATTTGT GATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTG TTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTG GTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGA TCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTGATTTG GTGTTGGAGGTGGTGGTGTGATCTGTGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG01070.hp1 others(25): Show HG00597.hp1 HG00673.hp2 HG01070.hp1 HG01106.hp2 HG01123.hp2 HG01346.hp1 HG01358.hp1 HG02083.hp1 HG02109.hp2 HG02300.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03225.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 NA18952.hp1 NA18955.hp1 NA19056.hp1 NA21309.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0015c0043	a0001c0001t0005 a0001c0002t0005 a0001c0005t0005 others(7): Show a0001c0001t0005 a0001c0002t0005 a0001c0005t0005 a0001c0005t0030 a0001c0005t0044 a0001c0005t0045 a0001c0012t0017 a0001c0012t0037 a0001c0012t0046 a0015c0043t0005	a0001c0001t0005g0091 a0001c0002t0005g0190 a0001c0005t0005g0140 others(25): Show a0001c0001t0005g0091 a0001c0002t0005g0190 a0001c0005t0005g0140 a0001c0005t0005g0176 a0001c0005t0005g0177 a0001c0005t0005g0178 a0001c0005t0005g0181 a0001c0005t0005g0182 a0001c0005t0005g0183 a0001c0005t0005g0184 a0001c0005t0005g0185 a0001c0005t0005g0187 a0001c0005t0005g0188 a0001c0005t0005g0189 a0001c0005t0005g0197 a0001c0005t0005g0198 a0001c0005t0005g0201 a0001c0005t0005g0299 a0001c0005t0005g0344 a0001c0005t0030g0298 a0001c0005t0044g0172 a0001c0005t0045g0180 a0001c0012t0017g0143 a0001c0012t0017g0145 a0001c0012t0017g0309 a0001c0012t0037g0144 a0001c0012t0046g0142 a0015c0043t0005g0204	28	346	0.0809	778	c.542 others(795): Show c.5420-944_5420-943insGTTGTTGGAGGTGATGTGATTCGTGAGA TGTGTTATTTGGTTGTTGGAGGTGATGTGATTCGTGAGATGTGTTATTTG GTTGTTGGAGGTGGTGTGATCTGTGACATTTGTGATTTGTTGTTGGAGGT GGTGTGATCTGTGAGATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTG TGACATTTGTGATTTGTTGTTGGAGGTGGTGTGATCTGTGAGATTTCTGA TTTGGTTGTTGGAGGTGGTGTGATCTGTAAGATTTCTGATTTGGTTGTTG GAGGTGGTGTGCTCTGAGTTATGTGACTTGGTTGTTGGAAGTGGTGTGAT CTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTT GTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTTTGTGATTTGTTG TTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGTTGGAGGTGGTGT GCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGA GATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGA TTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTT GGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGT GGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTC TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ADAM12_chr10_126007391_126393477	126251636	T T	TGATGGGA others(772): Show TGATGGGATGGATGGGATGGATAGGAAGGATGGGTGGATGGGATGGAGAG GATGGATGGGATGGATAGGATGGATGGATAGGATGGGATGGATGGCTAGG ATGGATAGATTGGATGGATGGATGGGATGATGGGATGAATGGATTGGACG GATGGATGGGATGGATACATGAATTGATGGGATGATAAGATAGATGGATG AATGGATGGGATGGATAGGATGGATGGATGGGATGGATGGATTGGATGGA TGGGATGGATGGGATGAATGGATGGATGGATGGGATGGATAGGATGGATG GGATGGATGGATAGGATGGATGGATGGGATGATGGGATGGATAGAACGGA TGGAGGGAGGGATGGATGGATGGATGAACGGGATGGATGGATGGATGATC AGGATGGATGGATGGATGGGATGGATAAATGGATGGATTGGGTGGGATGG ATAGATTGGATGGATGGATGGGATGGACGATGGATGGGATGAATGGATTA GATGGATGGGATGGATGGATGGGATGGATGGATGGACAGGATGGATGGGT GGATGGATGGGATAGATGTGATGGGTGGGATGGACACATGGGATGGATGT GATGGATGGGATGAATGGATGGGATGAATGGATGGGATGAATGGATGGGA TGGACAGGATGGATGGATGGATGGATAGGATAGATGGGTGGGATGGATGG GATGGATGGATGAATGGACAGGATGGATGGGATGGATGGATGAATGGACG GGATGGATAGGATGGACGGATAGATGAATG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02622.hp2 others(6): Show HG02280.hp1 HG02615.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03195.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0021 a0001c0032 others(1): Show a0001c0002 a0001c0021 a0001c0032 a0002c0054	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0021t0021 a0001c0032t0008 a0002c0054t0001	a0001c0002t0001g0185 a0001c0002t0002g0022 a0001c0002t0006g0132 others(6): Show a0001c0002t0001g0185 a0001c0002t0002g0022 a0001c0002t0006g0132 a0001c0002t0006g0172 a0001c0002t0006g0252 a0001c0021t0021g0076 a0001c0021t0021g0077 a0001c0032t0008g0184 a0002c0054t0001g0011	9	252	0.0357	779	c.260 others(798): Show c.260+27278_260+27279insCATTCATCTATCCGTCCATCCTATCC ATCCCGTCCATTCATCCATCCATCCCATCCATCCTGTCCATTCATCCATC CATCCCATCCATCCCACCCATCTATCCTATCCATCCATCCATCCATCCTG TCCATCCCATCCATTCATCCCATCCATTCATCCCATCCATTCATCCCATC CATCACATCCATCCCATGTGTCCATCCCACCCATCACATCTATCCCATCC ATCCACCCATCCATCCTGTCCATCCATCCATCCCATCCATCCATCCCATC CATCTAATCCATTCATCCCATCCATCGTCCATCCCATCCATCCATCCAAT CTATCCATCCCACCCAATCCATCCATTTATCCATCCCATCCATCCATCCA TCCTGATCATCCATCCATCCATCCCGTTCATCCATCCATCCATCCCTCCC TCCATCCGTTCTATCCATCCCATCATCCCATCCATCCATCCTATCCATCC ATCCCATCCATCCTATCCATCCCATCCATCCATCCATTCATCCCATCCAT CCCATCCATCCAATCCATCCATCCCATCCATCCATCCTATCCATCCCATC CATTCATCCATCTATCTTATCATCCCATCAATTCATGTATCCATCCCATC CATCCGTCCAATCCATTCATCCCATCATCCCATCCATCCATCCAATCTAT CCATCCTAGCCATCCATCCCATCCTATCCATCCATCCTATCCATCCCATC CATCCTCTCCATCCCATCCACCCATCCTTCCTATCCATCCCATCCATCCC ATC	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144687718	T T	TCCCACCC others(772): Show TCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCA CACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCG TGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGC GGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCAC ACATTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCGTGACCACACACTGGCGGT GAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CCGTGACCACACACTGGCGGTGAGCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	246	0.0041	779	c.-21 others(790): Show c.-2115_-2114insGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAATGTGTGG TCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTA GTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGG TGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACC GCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCA CGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1873		chr8	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(772): Show TGGGGGAAAGTGAGGGGAGGTGGGGAAGGAGGGAAAGAGGGGGGAGGGGG AAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGG GGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAG GAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGG AAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAA GGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGG GGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGG AAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	300	0.0033	779	c.-70 others(788): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGAAGGAGGGAAAG AGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAG GGGGAGGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGCGGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGA AGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGG GAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGT GGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGG GAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(772): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGG AGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGA AGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAG GGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGA AGAAGGAGGGGGAAGTGGGGAAGGGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	300	0.0033	779	c.-70 others(788): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAA GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAGG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(772): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGA AGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGG AGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGG GGAAGGGAGGAGGAAGGGGAGGAGGAAGGGGGAAGGGGAGGAGGAAGGGG GGAAGGGGGAAGGAGGAGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGG AGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGG AAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGG GGAAGAAGGAGGGGAAGTGGGGAAGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	300	0.0033	779	c.-70 others(788): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGA AGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGT GGGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGAGGAGGAAGGGGAGGAGGAAGGGGGAAGGG GAGGAGGAAGGGGGGAAGGGGGAAGGAGGAGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGA AGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGG GAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGG GGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGG GAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCA GTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGT GGGAGGAGGAAGGGGAAGAAGGAGGGGAAGTGGGGAAGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C4orf50_chr4_5954375_6023431	6004348	A A	ATGTGGTG others(772): Show ATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGATGGTGATGATGGTG ATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTG ATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATG ATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGTGATAGTGA TGATGGTGATGATGCTGATGGTGATGATGGTGATAGTGATGATGGTGATG GTGATGATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGAT GGGATGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATG ATAGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATA GTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGGTGATGATGGTGACGGTGATGATGTGATGG TGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGATGTGATGGTGATGATGTTGATG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGA TGGTGATGGTGATGATAGTGATGATGGTGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0243 a0003c0011t0001g0243	1	346	0.0029	779	c.963 others(796): Show c.963+3647_963+3648insCCACCATCATCACTATCATCACCATCAC CATCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCATCAACATCATCACCATCACATCATCACCATCATCACCATCACCATC ATCACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCAT CACCATCACATCATCACCGTCACCATCATCACCATCATCACCATCATCAC CATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCA TCACCATCACCATCATCACCATCACCATCATCACCATCATCACCATCATC ACTATCATCACCATCACATCATCACCATCACCATCATCACCATCATCACT ATCATCGCCATCACATCATCACCATCACCACCATCATCAACATCACCATC CCATCATCACCATAATCACCATCACCATCATCACCATCATCACCATCATC ACCATCACCATCATCACTATCACCATCATCACCATCAGCATCATCACCAT CATCACTATCACATCATCACCATCACATCATCACCATCACCATCATCACC ATCATCACTATCATCGCCATCACATCATCACCATCACCACCATCATCAAC ATCACCATCACATCATCACCATCACCATCATCACCATCATCACCATCACC ATCACCATCATCACCATCACCATCACAGTCACCATCACCATCACCACCAC A	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1C_chr12_2047987_2702950	2539706	T T	TTTCATAA others(772): Show TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0014 a0001c0011t0014	a0001c0011t0014g0007 a0001c0011t0014g0007	1	104	0.0096	779	c.139 others(800): Show c.1391-10197_1391-10196insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCS_chr11_66588185_66611019	66598463	G G	GAGATTGT others(772): Show GAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCT CAAAAAAATAAAAAAATAAATTTAAAAAAATAGAGAAAGAAAATAGATTG GTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTAAGGGATATAGGATTT CCTTTCCTTTCCTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TAGAGACGGAGTCTCACTTTTTCACCCAGGCTGGAGTGCAGTGGTGCAAT CTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAGTTCTTGTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCCCCTTGTCTGGCAA ATTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGG TCTCAACCTCCTGACCTCAGGTGATCCACCCATGTCGCCCTCCCAAACTG CTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTATTTTGTTCTTTTTG TTTGTTTTATTCCGTATCGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGC ATTGACATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGG TGGGTGGATTACCTGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGG TGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTG CATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTG AATCTAGCAGGTGGAGGTTGCAGTGAGCCA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	404	0.0025	779	c.113 others(794): Show c.113-649_113-648insTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACTCCATCTCAAAAAAATAAAAAAATAAATTTAAAAAAATAGAG AAAGAAAATAGATTGGTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTA AGGGATATAGGATTTCCTTTCCTTTCCTTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTAGAGACGGAGTCTCACTTTTTCACCCAGGCTGGA GTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAA GCAGTTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCAC CCCCTTGTCTGGCAAATTTTTATATTTTTGGTAGAGACAGGGTTTCACCA TGTTGGCCAGGCTGGTCTCAACCTCCTGACCTCAGGTGATCCACCCATGT CGCCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCT ATTTTGTTCTTTTTGTTTGTTTTATTCCGTATCGGAGTCTTGCTCTGTCA CCCAGGCTGGAGTGCATTGACATGGTGGCTCACGCCTGTAATCCTAGCAC TTTGGGAGGCCAAGGTGGGTGGATTACCTGAGGCCAGGGGTTCGAGACCA GCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAG CCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATTGCTTGAATCTAGCAGGTGGAGGTTGCAGTGAGCCAAGAT	CCS	ENSG00000173992.9	transcript	ENST00000533244.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCS_chr11_66588185_66611019	66598463	G G	GAGATTGT others(772): Show GAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCT CAAAAAAATAAAAAAATAAATTTAAAAAAATAGAGAAAGAAAATAGATTG GTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTAAGGGATATAGGATTT CCTTTCCTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TAGAGACGGAGTCTCACTTTTTCACCCAGGCTGGAGTGCAGTGGTGCAAT CTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAGTTCTTGTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCACCCCCTTGTCTGGCAA ATTTTTATATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGG TCTCAACCTCCTGACCTCAGGTGATCCACCCATGTCGCCCTCCCAAACTG CTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTATTTTGTTCTTTTTG TTTGTTTTATTCCGTATCGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGC ATTGACATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGG TGGGTGGATTACCTGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGG TGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTG CATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTG AATCTAGCAGGTGGAGGTTGCAGTGAGCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01243.hp2 others(28): Show HG00642.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01884.hp2 HG01928.hp1 HG02004.hp2 HG02074.hp2 HG02132.hp1 HG03491.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04199.hp2 NA18949.hp2 NA18955.hp2 NA18969.hp1 NA18974.hp2 NA18977.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA19007.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0002t0001g0050	31	404	0.0767	779	c.113 others(794): Show c.113-649_113-648insTGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACTCCATCTCAAAAAAATAAAAAAATAAATTTAAAAAAATAGAG AAAGAAAATAGATTGGTGGCAGGGGTGGAAGAATAGGAGGGTGATAGCTA AGGGATATAGGATTTCCTTTCCTTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTAGAGACGGAGTCTCACTTTTTCACCCAGGCTGGA GTGCAGTGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAA GCAGTTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGCAC CCCCTTGTCTGGCAAATTTTTATATTTTTGGTAGAGACAGGGTTTCACCA TGTTGGCCAGGCTGGTCTCAACCTCCTGACCTCAGGTGATCCACCCATGT CGCCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCT ATTTTGTTCTTTTTGTTTGTTTTATTCCGTATCGGAGTCTTGCTCTGTCA CCCAGGCTGGAGTGCATTGACATGGTGGCTCACGCCTGTAATCCTAGCAC TTTGGGAGGCCAAGGTGGGTGGATTACCTGAGGCCAGGGGTTCGAGACCA GCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAG CCGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATTGCTTGAATCTAGCAGGTGGAGGTTGCAGTGAGCCAAGAT	CCS	ENSG00000173992.9	transcript	ENST00000533244.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDH23_chr10_71391920_71820947	71688971	T T	TCCAGGGT others(772): Show TCCAGGGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGGTGGAGTCAAG TGCCGTGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGATGG TGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGGGATGGTGGAG CCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGG GATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAG CCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGTCAGG GGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGGTGGAGTCAGGGATGG TGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAG TCAGGGGTGGTGGAGCCAGGGGTCGTGGAGCCAACAGTGGTGGAGTCAGG GGTGGTGGAGTCCAGGGTGGTGGAGCCAGGGGTAGAGGAGTCAGGGATGG TGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGTGGTGGAG TCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGGAGCCAGG GATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGTGG TGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAG TCAGGGGTGGTGGAGCCAGGGATGGTGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0063 a0063	a0063c0166 a0063c0166	a0063c0166t0001 a0063c0166t0001	a0063c0166t0001g0187 a0063c0166t0001g0187	1	196	0.0051	779	c.205 others(798): Show c.2059+1258_2059+1259insTGGTGGAGCCAGGGGTAGAGGAGTCA GGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGGAGCCAGGGGT GGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCAGAGGTGGTGG AGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCA ACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGT GGTGGAGCCAGGGGTGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGG AGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCA GGGATGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTGGTGGAGCCAACGGT GGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGGAGTCAGGGGTGGTGG AGCCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGGTCGTGGAGCCA ACAGTGGTGGAGTCAGGGGTGGTGGAGTCCAGGGTGGTGGAGCCAGGGGT AGAGGAGTCAGGGATGGTGGAGTCAAGTGCCGTGGACCCAGGGATGGTGG AGCCAGGGGTGGTGGAGTCAGGGATGGTGGAGTCAGGGATGGTGGAGCCA GAGGTGGTGGAGCCAGGGATGGTGGAGCCAGGGGTGGTGGAGCCAGGGGT GGTGGAGCCAACGGTGGTGGAGTCAGGGATGGTGGAGCCAGGGGTGGTGG AGTCAGGGGTGGTGGAGTCAGGGGTGGTGGAGCCAGGGATGGTGGAGCCA GGG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	19/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(772): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTC TTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCC TCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTC CCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCC TCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTC CTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCT TCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0218 a0001c0002t0070g0218	1	270	0.0037	779	c.162 others(800): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCTC TTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCC TCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCAC CTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTT CCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCC TCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTC TCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTT CCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCC TTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCT CCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COG3_chr13_45459939_45541701	45485384	C C	CGGGGCGG others(772): Show CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCAGG GGGGCTGACACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCA GAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGACGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCC CGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGGCCATCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCAGACGGCACGGCTGGCCGGGCGG GGGGGCTGACCCCCCACCTCCCTCCCGGAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0033 a0002c0004t0001g0033	1	342	0.0029	779	c.844 others(796): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGACGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGGCCATCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGGGGGGG others(772): Show GGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG GCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGGGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCC GGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	342	0.0029	779	c.844 others(796): Show c.844-1087_844-1086insGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGATGGGGTGGCTGGCCGGGCAGGGG GGCTGACACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGG GGCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCA GACGGGGCGGCTGGCCGGGGGGAGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGG GGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(772): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	342	0.0029	779	c.844 others(796): Show c.844-1056_844-1055insCGGCTGGCTGGGCAGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(772): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18969.hp1 NA18973.hp2 others(1): Show NA18944.hp2 NA18969.hp1 NA18973.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096	4	342	0.0117	779	c.844 others(796): Show c.844-1056_844-1055insCGGCTGGCTGGGCAGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(772): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCAG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	342	0.0029	779	c.844 others(796): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(772): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(63): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01257.hp2 HG01258.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02129.hp1 HG02165.hp2 HG02486.hp2 HG02523.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18945.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18966.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp2 NA19012.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19077.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0010 a0002c0012 others(1): Show a0001c0001 a0001c0010 a0002c0012 a0006c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0010t0001 a0002c0012t0001 a0006c0019t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0043 others(62): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0006g0064 a0001c0001t0008g0051 a0001c0010t0001g0128 a0002c0012t0001g0103 a0006c0019t0001g0070	66	342	0.1930	779	c.844 others(796): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(772): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCTGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	342	0.0029	779	c.844 others(796): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCTGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(772): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	342	0.0029	779	c.844 others(796): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
CROCC2_chr2_240901336_240998311	240924272	G G	GTCCCCAC others(772): Show GTCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACTGACC CAGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACACTA ACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACA CTAACCCAGCCCCCACACTAATCCGGCCCCCAACACTAACCTGGCCCCCA CACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTAATCCGGCCCCC ACACTGACCTGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCC CACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCC CCCACACTACCCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGC CCCCCACACTGACCCAGTCCCCCACACTAACCCAGTCCCCACACTGACCC AGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAAC CCAGTCCCCACACTGACCCAGTCCCCACACTAACCCAGCCCCCACACTAA CCCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCACACT AACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCA CACTAACCCAGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	350	0.0029	779	c.489 others(796): Show c.489-1452_489-1451insTCCCCACACTAACCCAGCCCCCCACACT ACCCCGGCCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACA CTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCC CACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAATCCGGCCC CCAACACTAACCTGGCCCCCACACTGACCCAGCCCCCACACTAACCCAGC CCCCACACTAATCCGGCCCCCACACTGACCTGGCCCCCACACTAACCCAG CCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCA GTCCCCACACTAACCCGGCCCCCCACACTACCCCGGCCCCCACACTGACC CGGCCCCCACACTGACCCGGCCCCCCACACTGACCCAGTCCCCCACACTA ACCCAGTCCCCACACTGACCCAGCCCCCACACTGACCCAGCCCCCACACT GACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCCACA CTAACCCAGCCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCA CACTGACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCC CCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGG C	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(772): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGTGGGAG GGGGAGGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGACGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGG GAGGGGAGGGGGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGG GAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGG GGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAA GGGGGAGACAGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0194 a0001c0001t0008g0194	1	216	0.0046	779	c.923 others(798): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCTTCCCCTTCCCC TCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCCTCC CCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCGTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCCT CCCCCTCCCACTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCC ATTCCTCCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCT CCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DOCK1_chr10_126900428_127457516	126947906	T T	TTGGTGGT others(772): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGCGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGATGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGCGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGT GATGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0130 a0001c0005t0012g0130	1	136	0.0074	779	c.47- others(796): Show c.47-22791_47-22790insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGCGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGT GGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG ATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGCGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGT G	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTCCACCC others(772): Show CTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTTCCCC CCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACC CTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCC GCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCC TCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCC CACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTC CACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAG ACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCC TCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGG GAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTG CCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAAC CTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACC CCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCT CCTCTGCATCCTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0031 a0001c0009t0001g0031	1	374	0.0027	779	c.13 others(790): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGAGGGTGGGCAGG CTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGC AGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAG GGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAG GTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCC TGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGAT GCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTC GGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGGG AAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTTGGGTGGA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EGFR_chr7_55014017_55216628	55167217	C C	CGGTGGTG others(772): Show CGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGA GGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGA TGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGA TGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTAC TGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGATGGTGGTGAGGA GGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGAGGA GGTGGGAGTCACAATGGTGGTGGTGTTGAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0003 a0001c0021t0003	a0001c0021t0003g0090 a0001c0021t0003g0090	1	250	0.0040	779	c.188 others(798): Show c.1880+1825_1880+1826insTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAG GTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAGGTGGGAGTC ACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAGGTGGGAGTC ACAATGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCG GTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTG GTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTG GTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results