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
RPTOR_chr17_80539838_80971368	80634610	T T	TGTGCGTA others(478): Show TGTGCGTACTGTGTGTGTGCATATTGTGTGCGTGTGTGCATACTGTGTGT GTGCATACTGTGTGCGTGTGCGTACTGTGTGTGTGTGCATACTGTGTGTG TGCGCATACTGTGTGTGCATACTGTGTGTGCATACTGTGTGCGTGTGTGT ACTGTGTGTGTGTGCATACTGTGTGCGTGCATACCGTGTGTGTGCATACT GTGTGTGTGCGTACTGTGTGTGTGCGTACTGTGTGCGTGTGCGTACTGTG CGTGTGCGTACTGTGCGTGTGCATACTGTGCGTGTGCGTACTATGTGCGT GTGCGTACTGTGTGCATGTGCGTACTGTGTGTGCATACTGTGTGTGTGCA TACTGTGTGCGTGTGCATACCGTGTGTGTGTGCATACCGTGTGTGTGCAT ACTGTGTGCATACTTTGTGTGTGCATAGTGTGTGCGTGTGCATACTGTGT GTGCGTACTGTGTGTGTGCATACTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0060 a0001c0051t0060	a0001c0051t0060g0115 a0001c0051t0060g0115	1	110	0.0091	485	c.265 others(502): Show c.265+8819_265+8820insGCGTACTGTGTGTGTGCATATTGTGTGC GTGTGTGCATACTGTGTGTGTGCATACTGTGTGCGTGTGCGTACTGTGTG TGTGTGCATACTGTGTGTGTGCGCATACTGTGTGTGCATACTGTGTGTGC ATACTGTGTGCGTGTGTGTACTGTGTGTGTGTGCATACTGTGTGCGTGCA TACCGTGTGTGTGCATACTGTGTGTGTGCGTACTGTGTGTGTGCGTACTG TGTGCGTGTGCGTACTGTGCGTGTGCGTACTGTGCGTGTGCATACTGTGC GTGTGCGTACTATGTGCGTGTGCGTACTGTGTGCATGTGCGTACTGTGTG TGCATACTGTGTGTGTGCATACTGTGTGCGTGTGCATACCGTGTGTGTGT GCATACCGTGTGTGTGCATACTGTGTGCATACTTTGTGTGTGCATAGTGT GTGCGTGTGCATACTGTGTGTGCGTACTGTGTGTGTGCATACTGTGTGTG TGTGCGT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCGB1C1_chr11_188078_199575	196197	G G	GGGGACCT others(478): Show GGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTG GTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAG CCTTGGTGAGGGGACCTGGTGAGGGGACCTGCTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01255.hp2 others(15): Show HG00140.hp1 HG01074.hp1 HG01255.hp2 HG01361.hp1 HG02015.hp2 HG03831.hp1 HG04204.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18946.hp1 NA18956.hp1 NA18982.hp1 NA18990.hp1 NA18998.hp2 NA19055.hp2 NA19056.hp2 NA19085.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0017 a0002c0001t0002g0020 a0002c0001t0002g0005 a0002c0001t0002g0017 a0002c0001t0002g0020	18	345	0.0522	485	c.17 others(496): Show c.1747_*1748insGGGACCTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGG TGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCT TGGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGG AACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGCTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG A	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1623		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196197	G G	GGGGACCT others(478): Show GGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTG GTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAG CCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02970.hp2 others(3): Show HG01243.hp2 HG02615.hp2 HG02970.hp2 HG03209.hp2 HG03486.hp1 HG03540.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0006 a0002c0001t0002g0001 a0002c0001t0002g0006	6	333	0.0180	485	c.17 others(496): Show c.1747_*1748insGGGACCTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGG TGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCT TGGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGG AACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG A	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1623		chr11	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(478): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGA AGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGC GTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0021 a0011c0011t0001g0021	1	194	0.0052	485	c.173 others(504): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCA GCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCAT CTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGA GATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(478): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCCGTCTGAGA AGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGC ATCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02897.hp2 HG03139.hp1 others(1): Show HG01884.hp1 HG02897.hp2 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146	4	197	0.0203	485	c.173 others(504): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCA GCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCAT CTGGGAAGTGAGGAGCATCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGA GATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(478): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCCGTCTGAGA AGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGC GTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02897.hp1 HG03579.hp1 others(1): Show HG02055.hp1 HG02897.hp1 HG03579.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0153 a0001c0001t0001g0158 a0004c0005t0001g0161 others(1): Show a0001c0001t0001g0153 a0001c0001t0001g0158 a0004c0005t0001g0161 a0004c0005t0001g0162	4	197	0.0203	485	c.173 others(504): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCA GCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCAT CTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGA GATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305314	G G	GTGGGGGG others(478): Show GTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCGGTCTGAGA AGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGC GTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	194	0.0052	485	c.173 others(504): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCA GCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCAT CTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGA GATGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GGCCCCCT others(478): Show GGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTG CATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTA ACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCC TCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCC CCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCACGTCC AGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCAC GCCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCT GCATGCCCAGCCCCCCTCTAACCCTCTGCTCACCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0014	1	84	0.0119	485	c.125 others(502): Show c.125-4184_125-4183insTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGACGTGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGA GGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGGCGTG CAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGG TGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGC TGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGG GGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAG AGGGGGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(478): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGG AGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGG GGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGAGG GGAAGGAGGCGGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	25	0.0400	485	c.914 others(504): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCC CCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCC CGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCC CCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCC TCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTC CTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCCC CCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTG CCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(478): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTTCTATCTTGAA AGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGA CCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCC CCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCA GAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGG CAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGC TCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTC TCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCC TGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	238	0.0042	485	c.98 others(494): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCA GTTCTATCTTGAAAGATCTCACTTCCAACACACATGCTGTCTAGCAACAC TAAGTAGAGGGGACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCC CAGACCTGCAGCCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCA CATAATGAGGGCAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTAC AGCATGGACCAGGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGAT ATGCAGCAGCTGCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGA CTTTGGACAACTCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCC AGAAGCAGGGTCCTGTCTCCACGCAGGAGCATCTCCCGTGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(478): Show GTATATATATACACATAGTATATATATTCTACGTGTGTATATATATACAC ATAGTATATATATTCTACGTATATATATACACATAGTATATATATTCTAC GTATATATATACACATAGTATATATATTCTACGTATATATATACACATAG TATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTAT ATATATACACATAGTATATATATTCTACGTGTGTATATATATACACATAG TATATATATTCTACGTGTGTATATATATACACATAGTATATATATTCTAC GTGTATGTATACACATATATACATAGAATATATATACTATGTGTATATAT ATACGTAGAATATATATACTATGTGTATATATACGTAGAATATATATACT ATGTGTGTATATATACGTAGAATATATATACTATGTGTATATATATACGT AGAATATATATACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0086 a0001c0001t0054g0086	1	52	0.0192	485	c.174 others(504): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTG TGTATATATATACACATAGTATATATATTCTACGTATATATATACACATA GTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGTA TATATATACACATAGTATATATATTCTACGTATATATATACACATAGTAT ATATATTCTACGTATATATATACACATAGTATATATATTCTACGTGTGTA TATATATACACATAGTATATATATTCTACGTGTGTATATATATACACATA GTATATATATTCTACGTGTATGTATACACATATATACATAGAATATATAT ACTATGTGTATATATATACGTAGAATATATATACTATGTGTATATATACG TAGAATATATATACTATGTGTGTATATATACGTAGAATATATATACTATG TGTATATATATACGTAGAATATATATACTATGTGTATATATATACGTAGA ATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC45A4_chr8_141202174_141313288	141203304	A A	AGAGAGAG others(478): Show AGAGAGAGAGAGAGAGAGAGAGACCGTGAGAGAGAGAGAGAGAGAGAGAT AGAGAGAGAGAGAGAGGAGAGAGGGAGAGAGGAGAGGGAGAGGGGAGAGA GGAGACCGGGAGACGAGGAGAGGAGAGGGAGACCGTGGAGAGAGAGAGAG AGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGAGAGAGAGGGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGA GAGGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACCGTGGAGAGAGAGAGAGAGAGGGGAGAGGGAGAGAGGGAGAGGAGGG AGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGGGAGAGAGGGAGAGAGAGAGGAGAGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0042 a0002c0001t0042	a0002c0001t0042g0165 a0002c0001t0042g0165	1	186	0.0054	485	c.82 others(496): Show c.8267_*8268insCTCTCCCTCTCCTCTCTCTCTCCCTCTCTCCCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCCCTCCTCTCCCTCTCTCCCTCTCCCCTCTCTCTCTCTCTCTCCACGG TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCC TCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCCCTCTCTCTCTCTCT CCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCC CTCTCTCTCTCTCTCCACGGTCTCCCTCTCCTCTCCTCGTCTCCCGGTCT CCTCTCTCCCCTCTCCCTCTCCTCTCTCCCTCTCTCCTCTCTCTCTCTCT CTATCTCTCTCTCTCTCTCTCTCTCACGGTCTCTCTCTCTCTCTCTCTCT C	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3869		chr8	TogoVar
SLC7A1_chr13_29504414_29600688	29559419	T T	TGAATGTG others(478): Show TGAATGTGAGTGAGGGGGGAGAGAATGTGAGTGACGGGGAGTGAATGTGA GTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGGGGGGA GTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGA GTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGG AGAGAATGTGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGT GAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGG GAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGT GAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGG GAGAGAATGTGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATG TGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	255	0.0039	485	c.-11 others(504): Show c.-114-5560_-114-5559insTCTCCCCCCTCACTCACATTCACTCC CCGTCACTCACATTCACTCCCCCCTCACTCACATTCACTCCCCGTCACTC ACATTCTCTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTC CCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCTCACTCACATTCTCTCCCCCTCACTCACATTCACTC CCCCTCACTCACATTCTCTCCCCCCTCACTCACATTCACTCCCCGTCACT CACATTCTCTCCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCAC TCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCAC TCACATTCACTCCCCCCACTCACATTCACTCCCCCTCACTCACATTCTCT CCCCCCTCACTCACATTCACTCCCCGTCACTCACATTCTCTCCCCCCTCA CTCACATTC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(478): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	2	0.5000	485	c.17 others(496): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA G	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMYD3_chr1_245744347_246512279	246325098	C C	CGCGGGGG others(478): Show CGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAG AAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGG CAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTC GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	135	0.0074	485	c.531 others(502): Show c.531+2102_531+2103insCGACTCCTTCTCCCTCCTTCCTGCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCC TGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC CGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCC TGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCC TTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCCGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1222669	G G	GTGGAGGT others(478): Show GTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGGAAAGTGGTG CAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGAT CGCTGTAGAGGAAACTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCC TGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGCGCAGTGATGGA GGGTGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAG GAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGA GGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGGGCTGGATCGCTGTAGAGGAAAGCGGCG CAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0040 a0004c0004t0001g0040	1	80	0.0125	485	c.719 others(504): Show c.719+13452_719+13453insCCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAG GAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGA GGTGCTGGATCGCTGTAGAGGAAACTGGTGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGCTGTAGAGGAAAGTGGCG CAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGCTGGAT CGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCC TGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGA GGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGGGCTGGATCGCTGTAGAG GAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGA GGTGCTGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRMS_chr20_63533489_63552749	63536002	T T	TCCTCTCC others(478): Show TCCTCTCCTGGCCTCCCGCCCCCTCCTCTCCTGGCCTCCCGTCCCCTCCT CTCCTGGTCTCCCGCCCCCCCCACCTGGCCTCCCGCCCCCCCTCACCTGG CCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCT CCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCC GCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCC CCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCT CCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCT CACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCAC CTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCACCCCGTCCTCACCTGG CCTCCCGCACCCCCCTCACCTGGCCTCCCGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0003 a0003c0004t0002g0003	1	294	0.0034	485	c.48 others(496): Show c.4815_*4816insGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGGA GGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGGGAGGCC AGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGG TGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGA GGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGG GGGGGCGGGAGGCCAGGTGAGGGGGGGGCGGGAGGCCAGGTGAGGAGGGG GCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCG GGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGA GGCCAGGTGAGGGGGGGCGGGAGGCCAGGTGGGGGGGGCGGGAGACCAGG AGAGGAGGGGACGGGAGGCCAGGAGAGGAGGGGGCGGGAGGCCAGGAGAG G	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2486		chr20	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(478): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATTATATATGATTATAAAATATAATTATATATATTATAT ATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	9	0.1111	485	c.75 others(496): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAA TTATATATATTATATATGATTATAAAATATAATTATATATTATATATGAT TATAAAATATAATTATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA T	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48641023	C C	CGGGACAG others(478): Show CGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTG TTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTACGG GACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTG GGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGAC AGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGG CAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGC TTCTGCCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAA TGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTC TGCCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGA GAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG03540.hp1 HG02615.hp1 HG02647.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015	a0001c0001t0002g0075 a0001c0001t0003g0239 a0001c0001t0015g0005 a0001c0001t0002g0075 a0001c0001t0003g0239 a0001c0001t0015g0005	3	183	0.0164	485	c.113 others(502): Show c.113-5478_113-5477insCGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAATGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGGGGC ACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGG GTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGGGGCACC GTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTC TGCCCTA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48641037	C C	CCTGAAGC others(478): Show CCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGA ACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTACGGGACAGCTTCTGTCT GAAGCTGAGACCGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACA GTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAA GCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTG GGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCT GAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGG GGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAG ACCGTGGGGGCACCGTGGACCTTGTTGGGGCAGTGAGAACAGTGGGGGGC TGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0061 a0001c0001t0001g0086	2	71	0.0282	485	c.113 others(502): Show c.113-5478_113-5477insCGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGGGGC ACCGTGGACCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGG GTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACC GTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTC TGCCCTA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48641037	C C	CCTGAAGC others(478): Show CCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGA ACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTACGGGACAGCTTCTGTCT GAAGCTGAGACCGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACA GTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAA GCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTG GGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCT GAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGG GGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAG ACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGC TGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(25): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02155.hp1 HG02155.hp2 HG02486.hp2 HG03516.hp2 HG03704.hp1 NA18947.hp2 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA18980.hp2 NA19009.hp2 NA19060.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0025 a0001c0001t0027	a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0100 others(25): Show a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0002g0007 a0001c0001t0002g0098 a0001c0001t0002g0246 a0001c0001t0003g0021 a0001c0001t0003g0089 a0001c0001t0003g0129 a0001c0001t0005g0081 a0001c0001t0006g0072 a0001c0001t0008g0211 a0001c0001t0016g0224 a0001c0001t0025g0132 a0001c0001t0027g0118	28	97	0.2887	485	c.113 others(502): Show c.113-5478_113-5477insCGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGGGGC ACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGG GTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACC GTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTC TGCCCTA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48641037	C C	CCTGAAGC others(478): Show CCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGA ACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTACGGGACAGCTTCTGTCT GAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACA GTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAA GCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTG GGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCT GAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGG GGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAG ACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGC TGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19066.hp2 NA19011.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0214 a0001c0001t0008g0223 a0001c0001t0008g0214 a0001c0001t0008g0223	2	71	0.0282	485	c.113 others(502): Show c.113-5478_113-5477insCGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGGGGC ACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGG GTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACC GTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTC TGCCCTA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(478): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCC CCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCC TCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTC ACCCATCCCTCCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCC TCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTC ACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCA CCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	61	0.0164	485	c.142 others(506): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTC CTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCT CCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCC ACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCACCCCC CCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCC ACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACC CATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCA TCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(478): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATATCATATATATTTATATA TTGTATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATATTATATATTTATATTTTATTTTTATATTTATATTA TATATATATTTTTATATTTATATTTATATATTATTATATTATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0016 a0005c0009t0016	a0005c0009t0016g0065 a0005c0009t0016g0065	1	58	0.0172	485	c.143 others(506): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTGTAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATATA TATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNR_chr1_175310194_175748595	175650957	T T	TACCCCTC others(478): Show TACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACTCCTCCCC ATCTCATTACTACCCCTCCCCACCTCATTATTCCACCTTCCCCACCTCAT TACTACCCCTCCCCACCTCATTACTACCCCTCCCCATCTCATTACTCCCC CCCACCTCATTACTACCCCTCCCCATCTCATTACTCCTCCTCCCCCATCT CATTACTACCTGTCCCCCACCTCCTTACTACCCCTCCCCCACCTCATTAC TACCCATCTCCCACCTCATTCCTCCTCCTCCCCACCTCATTACTACCCCT CTCCCACCTCATTACTACCCCTCCCCACCTCATTACTACCCCTCCCCATC TCATTACTCCCCCCCACCTCATTACTACTCCTCCCCATCTCATTACTACC CCTCCCCACCTCATTATTCCACCTTCCCCACCTCATTACTACCCCTCCCC ACCTCATTATTCCACCTTCCCCACCTCATTACTACC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0011 a0002c0007t0011	a0002c0007t0011g0110 a0002c0007t0011g0110	1	126	0.0079	485	c.-16 others(506): Show c.-165+92268_-165+92269insGGTAGTAATGAGGTGGGGAAGGTG GAATAATGAGGTGGGGAGGGGTAGTAATGAGGTGGGGAAGGTGGAATAAT GAGGTGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTAATGAGGTGGG GGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGTGGGGAGGGGTAGTA ATGAGGTGGGAGAGGGGTAGTAATGAGGTGGGGAGGAGGAGGAATGAGGT GGGAGATGGGTAGTAATGAGGTGGGGGAGGGGTAGTAAGGAGGTGGGGGA CAGGTAGTAATGAGATGGGGGAGGAGGAGTAATGAGATGGGGAGGGGTAG TAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGTGG GGAGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATGAGGTGGGGAGGGG TAGTAATGAGATGGGGAGGAGTAGTAATGAGGTGGGGGGGAGTAATGAGA TGGGGAGGGGT	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(478): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCT TCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCC CCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCT CCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp1 HG02486.hp2 others(6): Show HG01069.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG02965.hp1 HG03209.hp2 HG03453.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0169 a0001c0002t0002g0170 a0003c0004t0002g0007 others(3): Show a0001c0002t0002g0169 a0001c0002t0002g0170 a0003c0004t0002g0007 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083	9	16	0.5625	485	c.657 others(500): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCT TCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCT CTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCT TCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTT CTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870245	A A	ACACCCCA others(478): Show ACACCCCACACACACCACACACCCCATACACACCACACACCCCATACACA CCACACACCCCACACACACCACCACACCACACACACACCACACACACACC ACACACCACACCCCACACACCACACCCCCACACACACCACCACCCCACAC ACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACAC CCCCCACACACCCCACACACACCACACCCCACACACACCACACCCCCCAC ACACCACACCCCACACACCCCCCACACACCCCACACACACCACACCCCAC ACACACCACACCCCCCACACACCACACACACACCACACACACCACACACA CACCACACACCCCATACACCACACCCCACACACACCACACCCCCCACACA CACCCCACACACACCACACACCCCACACACCCCACACACCCCACACACCA CACACCCCACACACCCCACACACACCACACACACCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	313	0.0032	485	c.35 others(504): Show c.35+21515_*35+21516insCCCACACACACCACACACCCCATACA CACCACACACCCCATACACACCACACACCCCACACACACCACCACACCAC ACACACACCACACACACACCACACACCACACCCCACACACCACACCCCCA CACACACCACCACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACCCCCCACACACCCCACACACACCACACCCC ACACACACCACACCCCCCACACACCACACCCCACACACCCCCCACACACC CCACACACACCACACCCCACACACACCACACCCCCCACACACCACACACA CACCACACACACCACACACACACCACACACCCCATACACCACACCCCACA CACACCACACCCCCCACACACACCCCACACACACCACACACCCCACACAC CCCACACACCCCACACACCACACACCCCACACACCCCACACACACCACAC ACACCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(478): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCT CTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCC TCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCTCTCCTTCCCTCCCTTCCCCTCCCATTCCTTCCCCTCCTATTCCTTC CCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTC CCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0027 a0001c0002t0024g0027	1	2	0.5000	485	c.104 others(504): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCT CCTCTCCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTC CCTTCCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCTTCCCCTCCCATTCCTTC CCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTT CTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCC CCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX3A_chrX_6528618_6540118	6533188	C C	CCTCCCTC others(478): Show CCTCCCTCCCTCCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTC CCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCT CCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCA CACACCTCTTCCTCCCTCCCTCCCCACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0013 a0003c0005t0002g0013	1	72	0.0139	485	c.55 others(494): Show c.556_*557insAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGGAGGGAGGGAG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		429		chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876163	C C	CTTCCCCC others(478): Show CTTCCCCCCTTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTC CCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCTCCCCTTCCCCCTTCC CCCCTTTCCCCCTTTCCCCCCTTCCCCCTTCCCCCTTCCCCTCCCCCTCC CCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCTCTTCCCCCCCTTTCCCCCTTCCCCCCTTC CCCCCTTCCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCCCTTTC CCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCCCCC TTCCCCCCTTCCCCTTCCCCCTTCCCCCCTTTCCCCCCCTTCCCCTCCCC CATTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	234	0.0043	485	c.-10 others(502): Show c.-10-3217_-10-3216insTCCCCCCTTCCCCCCTTCCCCCTTCCCC CTTCCCCCCTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCTCCCC TTCCCCCTTCCCCCCTTTCCCCCTTTCCCCCCTTCCCCCTTCCCCCTTCC CCTCCCCCTCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCCTTTCCCCC TTCCCCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCC CTTTCCCCCCCTTCCCCCCTTCCCCTTCCCCCTTCCCCCCTTTCCCCCCC TTCCCCTCCCCCATTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCCTTTC CCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370962	C C	CATATATG others(478): Show CATATATGTGATATATATCATATATATCAAATATATGATATATATCATAT ATGTGATATATATCGCATATGTGATATATATCATATCACATATCATATGA CATATCATATCACATATCACATATCACATATCACATATCACATATCATAT GATATATATCACATGTGATATATAGCATATGTGATATATATCATATATAT CACATGTGATATATAGCATATGTGATATATATCATATATATCACATGTGA TATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCA TATGTGATATATATCATATATATCACATATGCTATATAGCATACGTGATA TATATCATATATATCATATATGATGTATAGCATGATATATATGCTATATA TCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATA TCACATGTGATATATAGCATATGTGATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	328	0.0030	485	c.-35 others(496): Show c.-3510_-3509insATATATGTGATATATATCATATATATCAAATATA TGATATATATCATATATGTGATATATATCGCATATGTGATATATATCATA TCACATATCATATGACATATCATATCACATATCACATATCACATATCACA TATCACATATCATATGATATATATCACATGTGATATATAGCATATGTGAT ATATATCATATATATCACATGTGATATATAGCATATGTGATATATATCAT ATATATCACATGTGATATATAGCATATGTGATATATATCATATATATCAC ATATGCTATATAGCATATGTGATATATATCATATATATCACATATGCTAT ATAGCATACGTGATATATATCATATATATCATATATGATGTATAGCATGA TATATATGCTATATATCACATGTGATATATAGCATATATATCACATGTGA TATATAGCATATATATCACATGTGATATATAGCATATGTGATATATATGA T	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3406		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370977	T T	TCATATGT others(478): Show TCATATGTGATATATATCATATGTGATATATATGGTATATATGATATATA TCATATATCATATGTGATACATATGACATATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATATATGATATATATCATATATATCATATA TATGATATATATCACATATATATATGATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0067 a0001c0001t0023g0067	1	328	0.0030	485	c.-34 others(496): Show c.-3495_-3494insCATATGTGATATATATCATATGTGATATATATGG TATATATGATATATATCATATATCATATGTGATACATATGACATATATGA CATATATCATATGTGATACATATGACATATATCATATGTGATACATATGA CATATATCATATGTGATACATATGACATATATCATATGTGATACATATGA CATATATCATATGTGATACATATGACATATATCATATGTGATACATATGA CATATATCATATGTGATACATATGACATATATCATATGTGATACATATGA CATATATCATATGTGATACATATGACATATATCATATGTGATATATGTCA CATATATCATATGTGATATATGTCACATATATCATATGTGATATATGTCA CATATATCATATGTGATATATGTCACATATATCATATATATGATATATAT CATATATATCATATATATGATATATATCACATATATATATGATATATATC A	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3391		chr10	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(479): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG AGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAGAAAG AAAGAAAGAAAGAGAGAGAAGAGAGAGAGAAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0135 a0001c0006t0001g0135	1	117	0.0085	486	c.-11 others(497): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAA GAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAGAAAGAAAGAAAGAAAGAGAGAGAAGAGAGAGAGAAGAGA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGA GA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(479): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAG GAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGA GGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAAGGAGGGATGGGAGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0031 a0002c0001t0031	a0002c0001t0031g0029 a0002c0001t0031g0029	1	25	0.0400	486	c.259 others(507): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCCTCCCTCCCTCCCATCCC TCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCC CATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCC CTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADCK5_chr8_144369047_144398242	144380598	C C	CTCAGGAT others(479): Show CTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCC CGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCAC CTGCTGCACTAAGGATTATGGGCCGGGTGCAGAAACAGATGTGCGATCAG GCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGC TCAGGCACCTCCCGCAGTCAGAATTATGGGCCGGGTGTAGAAACAGATGT GTGCTCAGGCACCTGCTGCACTAAGGATTATAAGCCGGGTGTAGAAACAG ATGTGTGCTCAGGCACCTGCGGCACTCAGCATTATGGGCGGGGTGTAGAA ACAGATGTGTGCTCAGACGCCTCCCGCACTCAGGATTATGGGCCGGGTGC AGAAACAGATGTGTGCTCAGGCACCTGCCGCACTCAGGATTATGGGCCGG GTGTAGAAAGAGATGTGTGCTCAGGCGCCTCCCGCAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	344	0.0029	486	c.116 others(503): Show c.116+1122_116+1123insCGGGTGTAGAAACAGATGTGTGCTCAGG CACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCT CAGGCACCTGCTGCACTAAGGATTATGGGCCGGGTGCAGAAACAGATGTG CGATCAGGCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGA TGTGTGCTCAGGCACCTCCCGCAGTCAGAATTATGGGCCGGGTGTAGAAA CAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTATAAGCCGGGTGTA GAAACAGATGTGTGCTCAGGCACCTGCGGCACTCAGCATTATGGGCGGGG TGTAGAAACAGATGTGTGCTCAGACGCCTCCCGCACTCAGGATTATGGGC CGGGTGCAGAAACAGATGTGTGCTCAGGCACCTGCCGCACTCAGGATTAT GGGCCGGGTGTAGAAAGAGATGTGTGCTCAGGCGCCTCCCGCAGTCAGGA TTATGGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADPRHL1_chr13_113394611_113458488	113419002	T T	TCCTCCCT others(479): Show TCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCC TTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCC TCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0003 a0002c0021t0003	a0002c0021t0003g0173 a0002c0021t0003g0173	1	82	0.0122	486	c.106 others(505): Show c.1061+3823_1061+3824insGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGG AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGG GAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG AAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(479): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGGG GAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGGA GAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGA GGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAGGAGGAGGGGGGAGGAGGG GGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAAGGGGGAAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0037 a0001c0001t0028g0037	1	183	0.0055	486	c.125 others(507): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCT CCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTTCCCCCTT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCTCCCCCCCTCCTCC CCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCC CTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCT CCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCC TTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCCCCT CCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCT CCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(479): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGG AGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAG GGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGA GGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18947.hp2 NA18960.hp1 others(1): Show HG01258.hp2 NA18947.hp2 NA18960.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0002t0003 a0001c0001t0002 a0001c0001t0010 a0001c0002t0003	a0001c0001t0002g0159 a0001c0001t0010g0163 a0001c0001t0010g0164 others(1): Show a0001c0001t0002g0159 a0001c0001t0010g0163 a0001c0001t0010g0164 a0001c0002t0003g0168	4	186	0.0215	486	c.125 others(507): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCTC CTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCT CCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTT CTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCT CCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCT CCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(479): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGA GGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGG AGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAG GGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGA GGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	183	0.0055	486	c.125 others(507): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCTC CTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCT CCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTT CTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCT CCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCT CCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANKRD27_chr19_32592006_32680180	32596090	A A	AGAGGCTG others(479): Show AGAGGCTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGAC AGAGCGAGACTCCATCATCTCAAGAAAATGTTTTCAAAATTATATTGCAC TACCCCAACATATTAGGTGGTGTCAAATGTGTGTATTTGTATCTTGAGAA TACCTGTGCTGATAAACTGTATAGGATGTATTAATTAGGATGGTATAGAA CCACAGCAGCTTCAGTCTATAAGGTGGTTTTGTTTAAAAGTAGGGAAGGC TGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGA AAAACCCTGTCTCTACTAAAAATACAAAAACAAAAAAACAAACAAAAAAA AAAAACTAGCCGGGCATGGTGGTGGGTTCCTATAGTCCCAGCTACTCAGG AGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01175.hp2 HG03688.hp1 others(5): Show HG00323.hp1 HG01175.hp2 HG03688.hp1 NA18942.hp1 NA18946.hp2 NA18951.hp2 NA18971.hp1 NA19065.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0224 a0002c0005t0004g0260 a0002c0005t0004g0312 others(5): Show a0002c0005t0004g0224 a0002c0005t0004g0260 a0002c0005t0004g0312 a0002c0005t0004g0316 a0002c0005t0004g0318 a0002c0005t0004g0320 a0002c0005t0004g0330 a0002c0005t0004g0331	8	345	0.0232	486	c.20 others(497): Show c.2054_*2055insCGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAG CCTCCTGAGTAGCTGGGACTATAGGAACCCACCACCATGCCCGGCTAGTT TTTTTTTTTTGTTTGTTTTTTTGTTTTTGTATTTTTAGTAGAGACAGGGT TTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGC CCAGCCTTCCCTACTTTTAAACAAAACCACCTTATAGACTGAAGCTGCTG TGGTTCTATACCATCCTAATTAATACATCCTATACAGTTTATCAGCACAG GTATTCTCAAGATACAAATACACACATTTGACACCACCTAATATGTTGGG GTAGTGCAATATAATTTTGAAAACATTTTCTTGAGATGATGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCC TC	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding		915		chr19	TogoVar
ANKRD27_chr19_32592006_32680180	32596479	A A	AAAAAAAA others(479): Show AAAAAAAAAAAAAAACACTAGCCGGGCATGGTGGTGGGTTCCTATAGTCC CAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCGG AGGCTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTGGGTGACAG AGCGAGACTCCATCATCTCAAGAAAATGTTTTCAAAATTATATTGCACTA CCCCAACATATTAGGTGGTGTCAAATGTGTGTATTTGTATCTTGAGAATA CCTGTGCTGATAAACTGTATAGGATGTATTAATTAGGATGGTATAGAACC ACAGCAGCTTCAGTCTATAAGGTGGTTTTGTTTAAAAGTAGGGAAGGCTG GGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAA AACCCTGTCTCTACTAAAAATACAAAAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0204 a0001c0004t0006g0204	1	256	0.0039	486	c.16 others(497): Show c.1665_*1666insGTTTTTTTGTTTTTGTATTTTTAGTAGAGACAGG GTTTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAT GCCCAGCCTTCCCTACTTTTAAACAAAACCACCTTATAGACTGAAGCTGC TGTGGTTCTATACCATCCTAATTAATACATCCTATACAGTTTATCAGCAC AGGTATTCTCAAGATACAAATACACACATTTGACACCACCTAATATGTTG GGGTAGTGCAATATAATTTTGAAAACATTTTCTTGAGATGATGGAGTCTC GCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAG CCTCCGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCTGAGTAG CTGGGACTATAGGAACCCACCACCATGCCCGGCTAGTGTTTTTTTTTTTT TT	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding		526		chr19	TogoVar
ANO9_chr11_412938_447011	431498	C C	CCCGTGGG others(479): Show CCCGTGGGTATCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG CTTCTGCAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGG GGTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGG TATCTGGGGGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGG GGCGTCTGCGGGGGTGTGGGGGCTCCCCGGGGTATCTGGGGGGCGTCTGC GGGGATGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGG GGGCTCCCGCGGGTATCTGGGGGCGTCTGCAGGGGGTGTGGGGCTCCGTG GGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	174	0.0057	486	c.539 others(501): Show c.539+195_539+196insACGCCCCCACACCCCCGCAGATGCCCCCCC AGATACCCACGGAGCCCCACACCCCCTGCAGACGCCCCCAGATACCCGCG GGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCCCA CATCCCCGCAGACGCCCCCCAGATACCCCGGGGAGCCCCCACACCCCCGC AGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAAGCCCCC CCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCC ACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGAGCCC CCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCT GCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCC CCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCCCCCCCAGATAC CCACGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANXA2_chr15_60342151_60402986	60349903	C C	CAGGGGAA others(479): Show CAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	268	0.0037	486	c.838 others(501): Show c.838-707_838-706insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(479): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	134	0.0075	486	c.838 others(501): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(479): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	134	0.0075	486	c.838 others(501): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(479): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	85	0.0118	486	c.838 others(501): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(479): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	85	0.0118	486	c.838 others(501): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(479): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00738.hp1 others(9): Show HG00558.hp1 HG00609.hp2 HG00738.hp1 HG01109.hp1 HG01257.hp1 HG02738.hp2 HG03927.hp1 NA18939.hp1 NA18945.hp2 NA18957.hp2 NA18977.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0076 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0154 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0315	12	96	0.1250	486	c.838 others(501): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(479): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	85	0.0118	486	c.838 others(501): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGEF10_chr8_1818926_1963641	1832933	G G	GAGACAGG others(479): Show GAGACAGGCAGAGAGAGACAGAGGCAGAGACAGAAGGAGAGAGAGAGACA GAGGCAGAGACAGGCAGAGAGAGACAGAGACAGGCAGAGAGAGACAGAGA CAGAGGCAGAGACAGAAGGAGAGAGAGAGAGACAGAGGCAGAGACAGAGG CAGAGAGAGACAGACAGAGGCAGAGAGAGACACAGAGGCAGAGAGAGACA GAGACAGAGGCAGAGACAGAGGCAGAAAGAGACAGAGACGGAGAGAGAGA CAGAGGCAGAGAGAGACAGACAGAGGCAGAGGCAGAGACAGAAATAGACA GAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAGACA GGCAGAGAGACAGAGGCAGAGACAGAGACAGGCAGAGACAGAGGCAGAGA GAGACAGAGACAGAGGCAGAGAGAGACAGAGGGAGGCAGAGACAGAGGCA GAGGCAGAGACAGAAGCAGAGGGAGGCAGAGGGAGAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18982.hp2 NA19002.hp2 NA18939.hp1 NA18982.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0067 a0001c0002 a0001c0010 a0001c0067	a0001c0002t0001 a0001c0010t0001 a0001c0067t0001 a0001c0002t0001 a0001c0010t0001 a0001c0067t0001	a0001c0002t0001g0046 a0001c0010t0001g0047 a0001c0067t0001g0045 a0001c0002t0001g0046 a0001c0010t0001g0047 a0001c0067t0001g0045	3	362	0.0083	486	c.-48 others(503): Show c.-48+8826_-48+8827insGCAGAGAGAGACAGAGGCAGAGACAGAA GGAGAGAGAGAGACAGAGGCAGAGACAGGCAGAGAGAGACAGAGACAGGC AGAGAGAGACAGAGACAGAGGCAGAGACAGAAGGAGAGAGAGAGAGACAG AGGCAGAGACAGAGGCAGAGAGAGACAGACAGAGGCAGAGAGAGACACAG AGGCAGAGAGAGACAGAGACAGAGGCAGAGACAGAGGCAGAAAGAGACAG AGACGGAGAGAGAGACAGAGGCAGAGAGAGACAGACAGAGGCAGAGGCAG AGACAGAAATAGACAGAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAG ACAGAGACAGAGACAGGCAGAGAGACAGAGGCAGAGACAGAGACAGGCAG AGACAGAGGCAGAGAGAGACAGAGACAGAGGCAGAGAGAGACAGAGGGAG GCAGAGACAGAGGCAGAGGCAGAGACAGAAGCAGAGGGAGGCAGAGGGAG ACAGACAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results