JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(730): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCAC CCTCCTCCACATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCT CTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGG AGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTT CCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCA GACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTC CTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCA TCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTCAG GGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGC TGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCAT CCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCAC CCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	374	0.0027	737	c.13 others(748): Show c.1357_*1358insAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGG TGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTG GAGGATGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGTTG GGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGAGGGTGGGCAGG CTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGC AGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAG GGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGG GTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCC TGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGAT GCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGTGGAG GAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTC GGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGG GAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(730): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGAT GGATAGAAGGATGGATGGGGGTGGGGAGGTGGGTGGGTGGGTGGATGGAT GGAGAGATGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGAGA AGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGATG GATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATTGCAGAGGTGG GTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGGT GGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATGG ATGCATGGATGGATGGATGGAGAGGTGGGTGGACGGATGGATGGATTGGG AGGTGGGTAGATGGGTGGATGGACAGAAGGATGGATGGGTGGGGAGGTGG GTGGGTGGGTGGATGGATGGATGGGGAGGTGGATGGATGGATGGTTAGAT GGGGAGGTGGGTGGATGGGTGGATGGACAGAAGGATGGATGGGTAGGGAG GTAGGTGAGTGGATGGATGGATGGGGAGATGGATGGATGGATAGAGAGAA GGATGGATGGGTGGGACAATGGATGGATGGATGGATAGAAGGATGGACGG GTGGGGAGATGGATGGATGGATGGATGGATGGACAGAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0008 a0003c0012t0008	a0003c0012t0008g0137 a0003c0012t0008g0137	1	374	0.0027	737	c.772 others(752): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCCACCC ATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCATCCAC TCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCCACCC ACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCATCCAC CCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATCT ACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCTCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCACCCACCCACCTCCCCACTCATCC ATCCATCCACCCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCAT CCATCCACCCACCTCTGCAATCCATCCATCCATCCACCCGCCCACCTCCC CACCCATCCATCCATCCACCCATCCACCCACCCACCCACCTCCCCACCCA TCCATCCTTCTCTCCATCCATCCATCCATCCATCCATCTATCCATCTATC ATCTCTCCATCCATCCACCCACCCACCCACCTCCCCACCCCCATCCATCC TTCTATCCATCCATCCATCCATCCATCCATCCATCCCTCCCCATCCATCC CATCCATCCATCTCCCTACCCATTCATCCTTCTGTCCATCCACCCATCCA CCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EIPR1_chr2_3183970_3382818	3316062	C C	CTACCACC others(730): Show CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT CACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCC ATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCT ACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCA CCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCA TCCCCATACACACCCCCTACCACCATCCTCACCACCATCCCCATACACAC CCCCACCACCATCACCACCATCCCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	250	0.0040	737	c.259 others(756): Show c.259+21954_259+21955insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTAGGGGG TGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGG TGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGA TGGTGGTGGTA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ERICH1_chr8_659200_736224	659649	G G	GCATCCTG others(730): Show GCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTG GGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGA GGGGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGG GTGACCATCGAGATCTCCAGTGTGCACTGACCATCCTGGGGAGGGGGTGA CCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGTGACCAT CGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAG ATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCT CCGATGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGG TGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGATGTG CACTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACT GAATATCCTGGGGAGGGGGGTGACGATCGAGATCTCCAGGGTGCACTGAC CATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGACCATC CTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGG GGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	378	0.0027	737	c.49 others(748): Show c.4953_*4954insGTCAGTGCACACCGGAGATCTCGATGGTCACCCC CTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCC CCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAG GATGGTCAGTGCACCCTGGAGATCTCGATCGTCACCCCCCTCCCCAGGAT ATTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTC AGTGCACATCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTG CACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCACA TCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGG AGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGAT CTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCG ATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACTGGAGATCTCGATGG TCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTCAC CCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCC TCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCC CAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGG ATG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4550		chr8	TogoVar
ERICH1_chr8_659200_736224	659752	A A	AGGGGGGT others(730): Show AGGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGG GGGTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGT GACCATCGAGATCTCCAGTGTGCACTGACCATCCTGGGGAGGGGGTGACC ATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCG AGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGAT CTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCC GATGTGCACTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTG TGCACTGACCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGATGTGCA CTGAGCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGA ATATCCTGGGGAGGGGGTGACGATCGAGATCTCCAGGGTGCACTGACCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGACCATCCTG GGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGA GGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGG GTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGGGTGA CCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	378	0.0027	737	c.48 others(748): Show c.4850_*4851insTCCCCAGGATGGTCAGTGCACACCGGAGATCTCG ATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGG TCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCAC CCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCC TCCCCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCC CAGGATGGTCAGTGCACCCTGGAGATCTCGATCGTCACCCCCTCCCCAGG ATATTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGC TCAGTGCACATCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAG TGCACACCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCA CATCGGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACC GGAGATCTCGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACCGGAG ATCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCT CGATGGTCACCCCCTCCCCAGGATGGTCAGTGCACACTGGAGATCTCGAT GGTCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTCGATGGTC ACCCCCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCC CCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4447		chr8	TogoVar
FLT3_chr13_27998274_28105576	27998959	A A	ATATATAT others(730): Show ATATATATTTATATACATATAAATATATATGTATATACATATAAATATAT GTATATACATATAAATATATGTATATACATATAAATATATATGTATATAC ATATAAATATATATGTATATACATATATATATGTATATACATATAAATAT ATATGTATATACATATATATATGTATATACATATATATATATGTATATAC ATATATATATGTATATACATATATATATATGTATATACATATAAATATAT ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATATGTATATACATATAAATATATATGTATGTATAT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATTTACATACATATAAATA TATATTTACATACATATAAATATATACATTTATATACATATAAATATATA CATATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATATATTTATATATATATAAATATATATATATTTGTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	292	0.0034	737	c.50 others(748): Show c.5092_*5093insAATATATATATATTTATATATATATAAATATATA TATATTTATATATATATACAAATATATATATATTTATATATATATAAATA TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TATGTATATATTTATATGTATATAAATGTATATATTTATATGTATGTAAA TATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATATTTATATGTA TATAATATACATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATTTATATGTATAT ACATATATATTTATATGTATATACATATATATATATGTATATACATATAT ATATGTATATACATATATATATATGTATATACATATATATATGTATATAC ATATATATTTATATGTATATACATATATATATGTATATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATTTATATGTAT ATACATATATTTATATGTATATACATATATATTTATATGTATATAAATAT ATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4314		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(730): Show TCCCCTTTCCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCC CCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCC CCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCC CTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCC TCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCC TCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCC CTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTC CCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCC CTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTG TCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCC TCCCTCTCTCCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCC CTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCCACCTCCT TCTCCCTCTCTCCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCC CCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCC TCCCCTCTCTCCCACCCTCTGTCCCCCTCTCCGTCTCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0098 a0002c0011t0002g0098	1	230	0.0044	737	c.126 others(754): Show c.1260+931_1260+932insGGAGACGGAGAGGGGGACAGAGGGTGGG AGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAG GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGGA GAGAGGGAGAAGGAGGTGGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGG AGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGG GAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGA GAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAG GGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGA GAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAA GGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGA AGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGG GGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGA GGGGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGA GGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAG GGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGG GGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(730): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACACAATCACCACATAGATAC ACACCACACACACACACACACATCACCACATAGATACACACCACACACAC ATCACCATACAGATACACACCACACACACATCTCCACACATTACCATACA AATATACGCCACCCACACACACCCACACATCACCACACAGATACACACCA CAGACACATAATCACCACACACCACACAGACACACACATCACCACACAGA TACACACCACACACACCCCCATACATCACCACACAGATACACACCACGCA CCACACAGATACACACCACACACACCCACACATCACCACACACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACACAGATACACACCCCACACAGACACATGCACACACATCACCACAC ACACACCACACACACACATTGCCACACAGACACACACCCACATCACCACA CAGCTACATACCACACACACACACCACCACACATCACCACACAGATGCAC AACACACACCCACACATCACCACACAGACACACACACACACATCATCAGA TACACACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGA TACACACCACACACACGTCACCACACAGATACCACACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02015.hp2 HG02129.hp1 others(3): Show HG01175.hp2 HG02015.hp2 HG02129.hp1 HG02630.hp1 NA19030.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0003t0011	a0001c0001t0001g0119 a0001c0001t0002g0219 a0001c0002t0002g0167 others(3): Show a0001c0001t0001g0119 a0001c0001t0002g0219 a0001c0002t0002g0167 a0001c0002t0004g0185 a0001c0002t0005g0173 a0001c0003t0011g0160	6	282	0.0213	737	c.737 others(756): Show c.737-11238_737-11237insTGTGTGGTATCTGTGTGGTGACGTGT GTGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTGGGTGTGTGTCTGTGTGGCAATGTGTG TGTGTGGTGTGTGTGTGGTGATGTGTGTGCATGTGTCTGTGTGGGGTGTG TATCTGTGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGA TTGTGTGTGTGTGTGGTATGTGTGTGGTGATGTGTGGGTGTGTGTGGTGT GTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTGT GTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGTG ATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGGTGTGTGTGG GTGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTAT CTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGTG TGTGTGTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGTGGTCTGT ATCTGTGTGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGT CTGTGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(730): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACACAATCACCACATAGATAC ACACCACACACACACACACACATCACCACATAGATACACACCACACACAC ATCACCATACAGATACACACCACACACACATCTCCACACATTACCATACA AATATACGCCACCCACACACACCCACACATCACCACACAGATACACACCA CAGACACATAATCACCACACACCACACAGACACACACATCACCACACAGA TACACACCACACACACCCCCATACATCACCACACAGATACACACCACGCA CCACACAGATACACACCACACACACCCACACATCACCACACACATACCAC ACACACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATC ACCACATAGATACACACCCCACACAGACACATGCACACACATCACCACAC ACACACCACACACACACATTGCCACACAGACACACACCCACATCACCACA CAGCTACATACCACACACACACACCACCACACATCACCACACAGATGCAC AACACACACCCACACATCACCACACAGACACACACACACACATCATCAGA TACACACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGA TACACACCACACACACGTCACCACACAGATACCACACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0169 a0001c0002t0028g0169	1	282	0.0036	737	c.737 others(756): Show c.737-11238_737-11237insTGTGTGGTATCTGTGTGGTGACGTGT GTGTGGTGTGTATCCGATGACGTGTGTGTGGTATCTGTGTGGTGACGTGC ATGTGGTGTGTATCTGATGATGTGTGTGTGTGTGTCTGTGTGGTGATGTG TGGGTGTGTGTTGTGCATCTGTGTGGTGATGTGTGGTGGTGTGTGTGTGT GGTATGTAGCTGTGTGGTGATGTGGGTGTGTGTCTGTGTGGCAATGTGTG TGTGTGGTGTGTGTGTGGTGATGTGTGTGCATGTGTCTGTGTGGGGTGTG TATCTATGTGGTGATTTGTGGGTTTGTACCTGTGTGGTGGTGTGTGGTGA TTGTGTGTGTGTGTGGTATGTGTGTGGTGATGTGTGGGTGTGTGTGGTGT GTATCTGTGTGGTGCGTGGTGTGTATCTGTGTGGTGATGTATGGGGGTGT GTGTGGTGTGTATCTGTGTGGTGATGTGTGTGTCTGTGTGGTGTGTGGTG ATTATGTGTCTGTGGTGTGTATCTGTGTGGTGATGTGTGGGTGTGTGTGG GTGGCGTATATTTGTATGGTAATGTGTGGAGATGTGTGTGTGGTGTGTAT CTGTATGGTGATGTGTGTGTGGTGTGTATCTATGTGGTGATGTGTGTGTG TGTGTGTGGTGTGTATCTATGTGGTGATTGTGTGTGTGTGTGTGGTCTGT ATCTGTGTGATATGTGTGTGTGTTGTGTATCTGTGTGGTGATGTGTGAGT CTGTGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
IL33_chr9_6210807_6262983	6259673	T T	TGTCCTCT others(730): Show TGTCCTCTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT AAATTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGC ACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCT GCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCC CTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCT TCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAAT ATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGT TTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTA TGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAG TCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAA TAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATT TATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGT ATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGG TTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTC CACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02922.hp1 HG03453.hp1 HG02615.hp2 HG02922.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0046 a0002c0003t0006g0331 a0002c0003t0006g0334 a0002c0003t0006g0046 a0002c0003t0006g0331 a0002c0003t0006g0334	3	362	0.0083	737	c.35 others(748): Show c.3505_*3506insGTCCTCTTTTATTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTAAATTTTTTTTTTTTTTTTTATTATACTCTAAGTT TTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTG CCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATAT CTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGA GTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCA CCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTT ACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGA ACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCAC ATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGT CTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTT TATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATG GCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACAC TGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAA GTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTT TTA	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding		1691		chr9	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(730): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAG GAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAGGG AGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGA GGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAG GGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	282	0.0036	737	c.290 others(756): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCC TCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCC TTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCC TCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCC TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCC TCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCC TCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(730): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCT GCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAGTCTGCAGAGATG GGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0362 a0001c0001t0038g0362	1	375	0.0027	737	c.-20 others(748): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGC GACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGG GAGTCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(730): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCACCTCTCCCTCTCCCTCACCTCCCTCTCCAGCCTCTCCCT CCACTCCCTCACTCTCCCTCTCCCTGGACTCTCCTCTCCCTCCTCTCCCT GCTCCCTCCTCTCACGCCCTCAGCCTCCCACTCCCTCTCCCCCTCTCCCT CTCTCCCTCACCTCCTCTCCTCCCCTCCTCTCCCTCTCCCCTCTCCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC CTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	370	0.0027	737	c.-27 others(748): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGGGAGAGGGGAGAGGGAGAGGAGGGGAGGAGAGGAGGTGAGGG AGAGAGGGAGAGGGGGAGAGGGAGTGGGAGGCTGAGGGCGTGAGAGGAGG GAGCAGGGAGAGGAGGGAGAGGAGAGTCCAGGGAGAGGGAGAGTGAGGGA GTGGAGGGAGAGGCTGGAGAGGGAGGTGAGGGAGAGGGAGAGGTGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(730): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCA GGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGA AAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAG AAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAA GGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGA AGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGG AACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGG AAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGA AGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0061 a0005c0015t0001g0061	1	88	0.0114	737	c.507 others(756): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAG GAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAG AAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGA GGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGA AGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGG AGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAA GGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGA GGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAG GAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGA AGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LUC7L_chr16_183990_234449	186714	G G	GGGAACAG others(730): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAG CGACACGGAGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0175 a0001c0005t0001g0175	1	350	0.0029	737	c.24 others(748): Show c.2483_*2484insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCCTCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2275		chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061789	A A	AATTATAT others(730): Show AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAAATTATATAT AATATAGAATATAATTATATAATATATAATTATATTCTATATAGAATATA ATTATATAATATATAATTATATTCTATAGAATATAATTATATAATATATA ATTATATTCTATAGAATATAATTATATAATATATAATTATATTCTATAGA ATATAATTATATAATATATAATTATATTCTATATTATATAATTATAATAT AATTATATAATATAATTATATTATATATAATTATATTAAATATATTATAT AATATATAATTATATTATATATTATATAATATATAATTATAATTATATAT TATATAATATATAATTATATTATATATTATATAATATATAATTATATTAT ATAATATATAATATATAATATAATTATATATTATATAATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	737	c.-31 others(748): Show c.-3185_-3184insGAATATAATTATATATTATAACATATTATATATA ATTATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATA ATATAATTATATATAATATATTATATATTATAATACTATTAATATAATTA TATTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATAT ATAATATAATTATATATTATATAATATATAATTATATTATATATTATATA TTATATAATATAATTATATATTATATAATATATAATATAATTATATATTA TATAATATATAATTATAATTATATATTATATAATATATAATATAATTATA TATTATATAATATATTTAATATAATTATATATAATATAATTATATTATAT AATTATATTATAATTATATAATATAGAATATAATTATATATTATATAATT ATATTCTATAGAATATAATTATATATTATATAATTATATTCTATAGAATA TAATTATATATTATATAATTATATTCTATAGAATATAATTATATATTATA TAATTATATTCTATATAGAATATAATTATATATTATATAATTATATTCTA TATTATATATAATTTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATTATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3114		chr19	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(730): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAG GTGATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGA TGATGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTA GTCGAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGT GGAGGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGG AGGGTGTGGTGGTAGTGAAGGTGATGATGGTGGTGGTAGAGGTGATGGTA ATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGAT GGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAG AGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTA GAGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAA AGTGATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	274	0.0037	737	c.480 others(756): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCATCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCC ACCACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAAC CTCTACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCC CCACCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCAC CACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GAGGTGAT others(730): Show GAGGTGATGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGG GGGTGGTGGTGGGGATGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTG CTGGTGGTAGAGGTTATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGT GATAGTGGTGGTGGGGGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGG TTATGGTGGTGGTGGTGGTGATGGTGTTGGTAGAGGTGATGGTGATAGAG GTGATGGTGATGGTGGTGGTGGGGGTGATGGTGACAGGAGGTGGTGGCGA TGATGGAAATGATGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGTA GTCGAGGTGATGGTGGTAGTGATGGTGGTGGTGGTGGAGGTGATGGTAGT GGAGGTGATGGTGGTGGAGATGATCATGATGGTGGTGGTGGTGATGGTGG AGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTA ATGGTGGAGGTGATGGTGGTGATGGTGGTAGTGAAAGTGATGGTGGTGAT GGTGGAGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTGATGGCAG AGGGTGTGGTGGTAGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTA GAGGTGATGGTAATGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAA AGTGATGGTGGTGATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp1 others(60): Show HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA19004.hp1 NA19030.hp1 NA19065.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0075 others(60): Show a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0190 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0021 a0001c0001t0002g0074 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0203 a0001c0001t0002g0258	63	274	0.2299	737	c.480 others(756): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCTGCCATCACCACCACCACCATCACCTTCACTACCACC ACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACCACCAT CACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCTCCACC ACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACTACCAC CATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTACCACCA TCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACCACCAC CATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCACCACCA CCACCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCCCC ACCACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATAAC CTCTACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCATCC CCACCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCACCAC CACCATCACCT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MSR1_chr8_16102881_16197651	16189622	A A	ATATTTGA others(730): Show ATATTTGATATATATTTTTTATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATTTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAA TCTTACTTTATATATATTTTATATATATATAAAATCTTACTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTAT ATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATATAAAATAAGATTTTATATATATTTTATATATATAAAATA AGATTTTATATATATATATAAAATAAGATTTTATATATATATAAAATAAG ATTTTATATATATATAAAATAAGATTTTATATATATAAAATATATATAAA ATCTTATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0179	1	330	0.0030	737	c.-5+ others(752): Show c.-5+2975_-5+2976insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TATAAAATCTTATTTTATATATATATAAAATCTTATTTTATATATATATA TAAAATCTTATTTTATATATATAAAATATATATAAAATCTTATTTTATAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTT ATTTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATA AAATATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATC TTATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATAT ATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATATA AAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATATAT AAAATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATATA TCAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(730): Show CTGTATACATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT GTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAG CATGTATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTA TGTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTGTATATATACACAGTATGTATACTGTGTATA TATACACAGTATGTATACTGTGTATATATACACAGTATGTATACTGCATA CAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATACAT ACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATATATACACAATACAGTATGTATACTGTATATATACACAATACAGTA TGTATACTGTATATATACACAATACAGTATGTATACTGTATATATACACA ATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATAT ACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATAT ATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0018 a0002c0006t0006g0018	1	362	0.0028	737	c.-75 others(756): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATAT ATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATT GTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACAT ACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACA GTATACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATAC ATACTGTGTATATATACACAGTATACATACTGTGTATATATACACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC ATACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTAT ACAGTATACATGCTGTATACAGTATACATGCTGTACACAGTATACATGCT GTACATATATACAGTATACATGCTGTACATATATACAGTATACATGCTGT ACATGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NXN_chr17_794310_984776	949046	T T	TCCCCCCT others(730): Show TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCGTGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCC CGCGGCCTCCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTC CTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	242	0.0041	737	c.360 others(756): Show c.360+30272_360+30273insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGGGAGAG GAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGG CCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGCAGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811232	T T	TCCCTCCC others(730): Show TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCTTTC CTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTT CCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTCCCCTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0069 a0001c0003t0006g0069	1	178	0.0056	737	c.773 others(752): Show c.773+583_773+584insCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT CCCTTCCCTCCTTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTA CCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT TCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTCCCTTCCCTTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PKP3_chr11_389209_409908	401808	G G	GCCCCGCT others(730): Show GCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCGCCCC GCTCACCACCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCC GACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCCGGCCCCGCTCACACC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGC TCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCAGC CCCGCTCACACCTGCCCCGCTCACCCCCGGCCCCGCTC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	216	0.0046	737	c.173 others(756): Show c.1737+1103_1737+1104insCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCGCTCACACCCGCCCCGCTCACCACCGGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCT CACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCAC CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCG GCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCT CACACCCCGGCCCCGCTCACACCCCGCCCCGCTCACACCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCTGCCCCGCTCACCCC CGGCCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGCT others(730): Show GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC ATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAG GGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCG GGCGGGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGACTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0104 a0001c0014t0001g0104	1	250	0.0040	737	c.328 others(756): Show c.328-29531_328-29530insCTGACCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCC GGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGG CTCCTCACTTCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCC GGACGGGGCAGCTGGCCGGGCGGGGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCAGACGGGGCGGCTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCC TCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGG CCGGGCGGGGG	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP6R2_chr22_50338327_50450090	50351292	G G	GGCCTCCC others(730): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAT AGAACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCC TGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAA AATACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTAC TTGGGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAG GTTGCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGT GAAACTCCTCCGTCTGAAAAACGAAAAACAACCCTATTCAGTAAACCATG CTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACAA AGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTATCTA TTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTGC GATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCTG TCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCAG CTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGA TGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(56): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01258.hp1 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18940.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp1 NA18980.hp1 NA18983.hp1 NA18990.hp1 NA19000.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0002c0007 a0014c0022	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(18): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0038 a0001c0002t0021 a0001c0002t0042 a0001c0003t0002 a0001c0003t0009 a0001c0003t0034 a0001c0003t0035 a0001c0005t0002 a0002c0004t0002 a0002c0004t0005 a0002c0004t0010 a0002c0004t0017 a0002c0004t0041 a0002c0004t0043 a0002c0007t0005 a0002c0007t0007 a0002c0007t0040 a0014c0022t0002	a0001c0001t0002g0134 a0001c0001t0006g0181 a0001c0001t0007g0142 others(56): Show a0001c0001t0002g0134 a0001c0001t0006g0181 a0001c0001t0007g0142 a0001c0001t0007g0202 a0001c0001t0038g0120 a0001c0002t0021g0207 a0001c0002t0042g0152 a0001c0003t0002g0119 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0182 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0009g0183 a0001c0003t0034g0167 a0001c0003t0035g0072 a0001c0005t0002g0174 a0001c0005t0002g0200 a0002c0004t0002g0186 a0002c0004t0005g0130 a0002c0004t0005g0143 a0002c0004t0005g0149 a0002c0004t0005g0150 a0002c0004t0005g0156 a0002c0004t0005g0158 a0002c0004t0005g0169 a0002c0004t0005g0201 a0002c0004t0005g0204 a0002c0004t0005g0205 a0002c0004t0010g0132 a0002c0004t0010g0133 a0002c0004t0010g0137 a0002c0004t0010g0151 a0002c0004t0010g0153 a0002c0004t0010g0157 a0002c0004t0010g0188 a0002c0004t0017g0144 a0002c0004t0017g0145 a0002c0004t0017g0155 a0002c0004t0017g0159 a0002c0004t0041g0160 a0002c0004t0043g0154 a0002c0007t0005g0116 a0002c0007t0005g0136 a0002c0007t0005g0163 a0002c0007t0005g0164 a0002c0007t0005g0165 a0002c0007t0007g0161 a0002c0007t0007g0162 a0002c0007t0040g0166 a0014c0022t0002g0121	59	340	0.1735	737	c.-14 others(756): Show c.-148+7768_-148+7769insCATGAGCCACTGCACCCGGCCATAGA ACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGA GTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAAAAT ACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTACTTG GGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAGGTT GCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGTGAA ACTCCTCCGTCTGAAAAACGAAAAACAACCCTATTCAGTAAACCATGCTG TAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACAAAGC ACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTATCTATTT TTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTGCGAT CTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCTGTCT CAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCAGCTA ATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGATGG TCTCAATATCCTGACCTCGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCT GGGATTACAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50351292	G G	GGCCTCCC others(730): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAT AGAACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCC TGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCA GGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAA AATACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTAC TTGGGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAG GTTGCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGT GAAACTCCTCCGTCTGAAAAACGAAAAACAACCCTATTCAGTAAACCATG CTGTAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACAA AGCACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTATCTA TTTTTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTGC GATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCTG TCTCAGCCTCCCGAGTCGCTGGGACTACAGGTGCCTGCCACCACGCCCAG CTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGA TGGTCTCAATATCCTGACCTCGTGATCCTCCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0123 a0002c0004t0010g0123	1	340	0.0029	737	c.-14 others(756): Show c.-148+7768_-148+7769insCATGAGCCACTGCACCCGGCCATAGA ACAGTGGGCTTAAACTGTTTAGTAGGCTGGGCACAGTGGCTCATGCCTGT AATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATCACTTGAGGTCAGGA GTTTGAGACCAGCCTGGCCAACATGGTGAAACACCATCTCTACTGAAAAT ACAAAAAGTAGCTGGGCATGGTGGCGCACGCCTGTAGTTCCAGCTACTTG GGAGGCTGAGGAGGCTGAGGCAGGAGAATTGAACCTGGTAGGCAGAGGTT GCGGTGAACCGAGATTGCGCTATTGCACTTCAGCCTGGGCGACGAGTGAA ACTCCTCCGTCTGAAAAACGAAAAACAACCCTATTCAGTAAACCATGCTG TAAACAGATGTATTGTCATTTAGGTATTGTTGTTCCCTTAACAACAAAGC ACGGGGTAGATGTAGCATAATTCGTGTTTCTTTTTTATTTTTATCTATTT TTTTTGAGATGGAGTCTTTCTGTCACCAGGCTGGAGTGCAGCGGTGCGAT CTTGGCTCACTGCAACCTCCGCCTCCCAGGTTTAAGCAATTCTCCTGTCT CAGCCTCCCGAGTCGCTGGGACTACAGGTGCCTGCCACCACGCCCAGCTA ATTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGTTGGCCAGGATGG TCTCAATATCCTGACCTCGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCT GGGATTACAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(730): Show GTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGATGATGGTGG TGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGATGGTG ATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGA TGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATG ATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0073 a0004c0006t0001g0073	1	374	0.0027	737	c.-46 others(748): Show c.-4663_-4662insTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGAT GGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGATGAT GGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTA ATGGTGATGATGGTGATGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATG ATGGTGATGGTGATGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(730): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGTGAATAGGATGGGATGTGGATGGGGTGGG ATGAAATGTGGATGGGATGGAAAGGGATGTGGATGGAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG03486.hp1 HG02630.hp1 HG02809.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0303 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0303 a0001c0001t0005g0306 a0001c0001t0005g0307	3	308	0.0097	737	c.-8- others(754): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCACT CCATCCACATCCCTTTCCATCCCATCCACGTTTCATCCCACCCTATCCAC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCCATCCACATCCCATCCCATCCACATCCCATCCCATCCCAT CCACATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCTATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCAT CCCACTCTATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCC ATCCACATCCCATCCTACCCCATCCACATCCCTTTCCATCCCATCCACAT CTCATCCCACCCCATCCACATCTCATTCCACCCCATCCACATCCCATCAC ATCCCATCCACATCCCATTCCATCCCATCCCATCTACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACAT CCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(730): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGAG GGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGAG GGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTG TGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGG AGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGA TGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGG GAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGT GTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTG GAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGAGGGGTGTGG GGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAG GGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGG GGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAG GGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0205 a0003c0016t0001g0205	1	312	0.0032	737	c.188 others(756): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGAT GGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGG AGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTG TGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGG AGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGG AGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGAGGGTGGAGAG ATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGG GACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGG TGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGG TGGAGAGATGAGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTG TGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGG AGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGG AGGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPA3_chr7_7631518_7723607	7679076	A A	ATTTATTT others(730): Show ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAAT ACATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAA TATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAA ATATATGTTTATATATTTAGTTTATAGATAAATATATG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	308	0.0033	737	c.-75 others(756): Show c.-758+6753_-758+6754insCATATATTTATCTATAAACTAAATAT ATAAACATATATTTATCTATAAACTAAATATATAAACATGTATCTATAAA CTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATT TATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATATA TAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAAT ATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAACT AAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATA AACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTATA AACTAAATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	256143	A A	ATCCCTAG others(730): Show ATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CGTCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAATGGGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGGG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT CCATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGCCGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAATGGGACTACCCTACGTACTT CCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGG GACTACCCTACGTACTTCCAATGAGGGGAGCCGCACGGCGTCTGTCCTTT TCCATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGCCG CACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGGGACTACCCTACGTACT TCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	133	0.0075	737	c.439 others(754): Show c.439-8859_439-8858insCGGAAAAGGACAGACGCCGTGCGGCTCC CCTCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGACGGAAAAGGAC AGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCATTCC TAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATTGGAAGTACG TAGGGTAGTCCCATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTC CCCTCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGATGGAAAAGGA CAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCATTC CTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTAC GTAGGGTAGTCCCATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCT CCCCTCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGATGGAAAAGG ACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCATT CCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTA CGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGC TCCCCTCATAGGAAGTACGTAGGGTAGTCATATTCCTAGGGATGGAAAAG GACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCAT TCCTAGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(730): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGGGT CGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGG GGGGGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0154 a0001c0003t0002g0154	1	370	0.0027	737	c.284 others(756): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCAGGGGGGCCGACCCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(730): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTTCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCACCCCTTCCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACC CCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCACCC CTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	150	0.0067	737	c.77- others(754): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCCTCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC TTCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCCACCCCTTCCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTC CCCACCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCTCC CCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTC CCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(730): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTTCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCACCCCTTCCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACC CCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCACCC CTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	158	0.0063	737	c.22+ others(754): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCCTCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC TTCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCCACCCCTTCCCCCTCCCCCCTCC CCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTC CCCACCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCTCC CCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTC CCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(730): Show GAGGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAGGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGACGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGT GGGAGGGAGGGAGAGGGAGGGTGGGTGGGAGGGAGGGAGAGGGAGGGTGG GAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGA GGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACA GGGAGGCAGGGAGGCAGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGG GAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGA GGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGA GGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGG GGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0037 a0002c0012t0004g0037	1	132	0.0076	737	c.227 others(756): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTCCCTGCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCACCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCG TCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTC CCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCC TCCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCGCTCCCTC CCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCACCC others(730): Show CCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	370	0.0027	737	c.-15 others(748): Show c.-1533_-1532insCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTG GGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGT GGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
TMEM132C_chr12_128262170_128712911	128473334	T T	TCCAGCCT others(730): Show TCCAGCCTCCATCTTTATCTTCACTCCAGTCTCTATCTTCCATCTTCAGT CCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATCTTTATCTTCACTCC AGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTTCATCTTCACTCCAG CCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCATCCTTACTTGAGCC TCTATCTTCATCCTCACTCCAGCCCCTATCTTCATCTTCACTCCAGCCCC TACCTTCATCTTCATGCCAGCCTCCATCTTCATCCTCACTCCAGCCTCTA TCTTCGCCTTCACTCCAGCCTCTATCTTCATCCTTACTCCAGCCTCTATC TTCATCCTCACTCCACCCCATCTTCATCTTCACTCCACCCCATCTTCATC CTCTCTCCAGCCTCCATCTTCATCCTCACTGCAGCCTCCATCTTCATCTT CACTCCAGCCTCCATCTTCATCTTCACTCCAGCCTCTCTCATCCTCACTC CAGCCTCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACTCCA GCCTCCATCTTAATCTTCACTCCAGCCTCCATCTTCATCTTCACTCCAGC CTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAGCCT CCATCTTCATCCTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCCTCT ATCTTCATCCTCACGCCAGCCTCCTTCTTCATCTGCTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01891.hp1 HG02451.hp1 others(7): Show HG01099.hp2 HG01891.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02922.hp2 HG02970.hp1 HG03209.hp2 HG03471.hp1 NA20129.hp1	a0003 a0004 a0008 others(4): Show a0003 a0004 a0008 a0010 a0011 a0013 a0026	a0003c0016 a0003c0071 a0004c0008 others(7): Show a0003c0016 a0003c0071 a0004c0008 a0004c0013 a0008c0028 a0008c0078 a0010c0069 a0011c0014 a0013c0062 a0026c0057	a0003c0016t0002 a0003c0071t0002 a0004c0008t0003 others(7): Show a0003c0016t0002 a0003c0071t0002 a0004c0008t0003 a0004c0013t0002 a0008c0028t0001 a0008c0078t0001 a0010c0069t0001 a0011c0014t0001 a0013c0062t0002 a0026c0057t0012	a0003c0016t0002g0015 a0003c0071t0002g0079 a0004c0008t0003g0010 others(7): Show a0003c0016t0002g0015 a0003c0071t0002g0079 a0004c0008t0003g0010 a0004c0013t0002g0065 a0008c0028t0001g0140 a0008c0078t0001g0094 a0010c0069t0001g0021 a0011c0014t0001g0145 a0013c0062t0002g0011 a0026c0057t0012g0089	10	170	0.0588	737	c.974 others(756): Show c.974+57723_974+57724insATCTTTATCTTCACTCCAGTCTCTAT CTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATC TTTATCTTCACTCCAGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTT CATCTTCACTCCAGCCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCA TCCTTACTTGAGCCTCTATCTTCATCCTCACTCCAGCCCCTATCTTCATC TTCACTCCAGCCCCTACCTTCATCTTCATGCCAGCCTCCATCTTCATCCT CACTCCAGCCTCTATCTTCGCCTTCACTCCAGCCTCTATCTTCATCCTTA CTCCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATCTTCACTCC ACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACTGCAGCC TCCATCTTCATCTTCACTCCAGCCTCCATCTTCATCTTCACTCCAGCCTC TCTCATCCTCACTCCAGCCTCCATCTTCATCCTCTCTCCAGCCTCCATCT TCATCCTCACTCCAGCCTCCATCTTAATCTTCACTCCAGCCTCCATCTTC ATCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCAT CCTCACTCCAGCCTCCATCTTCATCCTCACTCCAGCCTCCGTCTTCATCT TCACTCCAGCCTCTATCTTCATCCTCACGCCAGCCTCCTTCTTCATCTGC TGCCAGCCTCC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128473334	T T	TCCAGCCT others(730): Show TCCAGCCTCCATCTTTATCTTCACTCCAGTCTCTATCTTCCATCTTCAGT CCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATCTTTATCTTCACTCC AGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTTCATCTTCACTCCAG CCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCATCCTTACTTGAGCC TCTATCTTCATCCTCACTCCAGCCCCTATCTTCATCTTCACTCCAGCCCC TACCTTCATCTTCATGCCAGCCTCCATCTTCATCCTCACTCCAGCCTCTA TCTTCGCCTTCACTCCAGCCTCTATCTTCATCCTTACTCCAGCCTCTATC TTCATCCTCACTCCACCCCATCTTCATCTTCACTCCACCCCATCTTCATC CTCTCTCCAGCCTCCATCTTCATCCTCACTGCAGCCTCCATCTTCATCTT CACTCCAGCCTCCATCTTCATCTTCACTCCAGCCTCTCTCATCCTCACTC CAGCCTCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACTCCA GCCTCCATCTTAATCTTCACTCCAGCCTCCATCTTCATCTTCACTCCAGC CTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAGCCT CCGTCTTCATCCTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCCTCT ATCTTCATCCTCACGCCAGCCTCCTTCTTCATCTGCTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02257.hp1 others(5): Show HG01884.hp1 HG02109.hp1 HG02257.hp1 HG02615.hp1 HG02630.hp2 HG03041.hp2 HG03195.hp1 NA19043.hp1	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0010 a0014 a0016	a0002c0037 a0002c0042 a0002c0046 others(5): Show a0002c0037 a0002c0042 a0002c0046 a0003c0070 a0006c0025 a0010c0027 a0014c0067 a0016c0065	a0002c0037t0002 a0002c0042t0009 a0002c0046t0002 others(5): Show a0002c0037t0002 a0002c0042t0009 a0002c0046t0002 a0003c0070t0002 a0006c0025t0005 a0010c0027t0001 a0014c0067t0005 a0016c0065t0014	a0002c0037t0002g0022 a0002c0042t0009g0004 a0002c0046t0002g0095 others(5): Show a0002c0037t0002g0022 a0002c0042t0009g0004 a0002c0046t0002g0095 a0003c0070t0002g0083 a0006c0025t0005g0075 a0010c0027t0001g0148 a0014c0067t0005g0158 a0016c0065t0014g0088	8	170	0.0471	737	c.974 others(756): Show c.974+57723_974+57724insATCTTTATCTTCACTCCAGTCTCTAT CTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATC TTTATCTTCACTCCAGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTT CATCTTCACTCCAGCCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCA TCCTTACTTGAGCCTCTATCTTCATCCTCACTCCAGCCCCTATCTTCATC TTCACTCCAGCCCCTACCTTCATCTTCATGCCAGCCTCCATCTTCATCCT CACTCCAGCCTCTATCTTCGCCTTCACTCCAGCCTCTATCTTCATCCTTA CTCCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATCTTCACTCC ACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACTGCAGCC TCCATCTTCATCTTCACTCCAGCCTCCATCTTCATCTTCACTCCAGCCTC TCTCATCCTCACTCCAGCCTCCATCTTCATCCTCTCTCCAGCCTCCATCT TCATCCTCACTCCAGCCTCCATCTTAATCTTCACTCCAGCCTCCATCTTC ATCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCAT CCTCACTCCAGCCTCCGTCTTCATCCTCACTCCAGCCTCCGTCTTCATCT TCACTCCAGCCTCTATCTTCATCCTCACGCCAGCCTCCTTCTTCATCTGC TGCCAGCCTCC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930756	C C	CAGGGGTT others(730): Show CAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAG GGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTC AGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAG AGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCA GGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGG GAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	466	0.0022	737	c.48 others(748): Show c.4834_*4835insTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAG CCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAA TCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTG GCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCT CCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCT GACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4613		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273375	A A	ATATATAT others(730): Show ATATATATATTATATATATATAAAAATTATATATAATATTATATATATAT AAAAATTATTTATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATATATAAAAAAATTATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAA TTATATATATAAAAATTATATATATATTAATATATATATAAAAATATATA TATATTATATATATATAAAAATTATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT AAAAAAAAATTATATATATATTATATATATATAATAATTATATATATATT ATATATATAAAAAATTATATATATAATATATATATAAAAATTAATATATA TAATATATATATAAAAATTATATATATATTATATATATATAAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA CAAATTATATATATATTGTAATATAATAAAAATTATATATATATTGTATA TATATAAAAATTATATATATATTATATATATATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0075 a0001c0001t0008g0075	1	272	0.0037	737	c.29 others(748): Show c.2940_*2941insTATATATATTATATATATATAAAAATTATATATA ATATTATATATATATAAAAATTATTTATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATATATAAAAAAAT TATATATATTATATATATAAAAATTATATATATATTATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATAATTATATATATAAAAATTATATATATATTAATATAT ATATAAAAATATATATATATTATATATATATAAAAATTATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATAAAAAAAAATTATATATATATTATATATATATAAT AATTATATATATATTATATATATAAAAAATTATATATATAATATATATAT AAAAATTAATATATATAATATATATATAAAAATTATATATATATTATATA TATATAAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATTATATATATATACAAATTATATATATATTGTAATATAATAAAAATTA TATATATATTGTATATATATAAAAATTATATATATATTATATATATATAA AAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2262		chr11	TogoVar
TSNARE1_chr8_142207080_142408182	142255935	C C	CCACCATC others(730): Show CCACCATCACCACCACCACCACTGTCACCATCACCACCACCATCACCATC ACCACCACTGTCACCATCACCACCACCACCACTGTCACCACCACCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCACCACCACTG TCACCATCACCACCACCATCACCATCACCACCACCATCACCACCATCATC ACCATCACCACCACCACCACTGTCACCATCACTACCACCACCACCATCAC CATCACCACCACCATCACCATCACCACCATCATCACCATCACCACCACCA CGTCACCATCACCACCACCATCACCATCACCACCACCACCACTGTCACCA CCACCACCACCACCACCATCACATCACCACCATCATCACCATCACCACCA CCATCACCATCACCACCACCACCACCGTCACCATCACCACCACCATCACC ATCACCACCACTGTCACCATCACCACCACCACCACTGTCACCACCACCAC CACCACCATCATCACCATCACCACCACCATCACCATCACCACCACCACCA CTGTCACCATCACCACCACCATCACCATCACCACCACCATCACCACCATC ATCACCATCACCACCACCACCACTGTCACCATCACTACCACCACCATCAT CACCATCACCACCACCACGTCACCATCACCACCACCATCACCATCACCAC CACCACCACTGTCACCACCACCACCACCACCACCATCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	238	0.0042	737	c.144 others(758): Show c.1446+18845_1446+18846insTGATGGTGGTGGTGGTGGTGGTGG TGACAGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGACGTGG TGGTGGTGATGGTGATGATGGTGGTGGTAGTGATGGTGACAGTGGTGGTG GTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGT GGTGATGGTGACAGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTG ACAGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGACGGTGGTGGTGGT GGTGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGTGATGGT GGTGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGATGGTGG TGGTGATGGTGACGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGA TGGTGGTGGTGATGGTGATGGTGGTGGTGGTAGTGATGGTGACAGTGGTG GTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGATGGTGACAGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGA TGGTGATGATGGTGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATG GTGACAGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGACAGTGGTGGT GGTGGTGATGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(730): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCC CTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	334	0.0030	737	c.657 others(752): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTCCTCCCTTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCTTCCCCCCTCCTCCCTCCTCCCTTCC CCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCT CTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCT TTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028886	A A	ACCCCCAC others(730): Show ACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACC CCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGAC CCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCCATC ACACCGTCCTAAAGACCCCACACACACTCGTAAAGACCCCATCACACCAT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAG ACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0202 a0005c0005t0002g0202	1	224	0.0045	737	c.225 others(756): Show c.2251+1543_2251+1544insGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAG TGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCT TTAGGACGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA TGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGT CTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACG AGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(730): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0097 a0001c0001t0010g0097	1	250	0.0040	737	c.82+ others(752): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATA TATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATA TATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATT TACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAA TACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
YBEY_chr21_46281342_46302751	46292619	G G	GAGTCAGC others(730): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCC TGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGAAGTGAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0380 a0001c0001t0001g0380	1	404	0.0025	737	c.339 others(754): Show c.339+1157_339+1158insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACA CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GAAGTGAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
ZNF365_chr10_62369369_62407450	62370953	G G	GTGATATA others(730): Show GTGATATATATCATATGTGATATATATCATATATATCACATATGTGATAT ATATCATATGTGATATATATCATATATATCACATATGTGATATATATCAT ATATATCACATATGTGATATATATCATATGTGATATATATCATATATATA TCACATATGTGATATATCATATGTGATGTATATCATATATATATCACATA TGATATATATCATATGTGATATATATCATATATATCACATATGATATATA TCATATGTGATATATATCATATATATCACATATGATATATATCATATGTG ATCATATGTGATATATATCATATATATCACATATGATATATATCATATGT GATATATATCATATATATCACATATGATATATATCATATGTGATATATAT ATATCATATATATCACATATGATATATATCATATGTGATATATATAGCAT ATATATCATATATATCACATATGATATATATCATATATATCATATGTGAT ATATAGCATATATATCATATGTGATATATAGCATATATATCATATGTGAT ATATAGCATATATATCATATATCATATATATCATATATATCATATATCAT ATATATCATATATATCATATATCATATATCATATATATCATATATATCAT ATATGTCATATGTGATATATATGATATATATGATATATATGATATATATG ATATATATGATATATATCATATATATGTGATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03041.hp2 HG03579.hp1 HG02109.hp1 HG03041.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	3	350	0.0086	737	c.-35 others(748): Show c.-3519_-3518insTGATATATATCATATGTGATATATATCATATATA TCACATATGTGATATATATCATATGTGATATATATCATATATATCACATA TGTGATATATATCATATATATCACATATGTGATATATATCATATGTGATA TATATCATATATATATCACATATGTGATATATCATATGTGATGTATATCA TATATATATCACATATGATATATATCATATGTGATATATATCATATATAT CACATATGATATATATCATATGTGATATATATCATATATATCACATATGA TATATATCATATGTGATCATATGTGATATATATCATATATATCACATATG ATATATATCATATGTGATATATATCATATATATCACATATGATATATATC ATATGTGATATATATATATCATATATATCACATATGATATATATCATATG TGATATATATAGCATATATATCATATATATCACATATGATATATATCATA TATATCATATGTGATATATAGCATATATATCATATGTGATATATAGCATA TATATCATATGTGATATATAGCATATATATCATATATCATATATATCATA TATATCATATATCATATATATCATATATATCATATATCATATATCATATA TATCATATATATCATATATGTCATATGTGATATATATGATATATATGATA TATATGATATATATGATATATATGATATATATCATATATATGTGATATAT ATC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3415		chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(730): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACACGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTATATATATACGTATATA TGTGTATATATACGTATATATATACACGTATATATACACATATATACATG TATATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACATATATACGTATATATATACGTATATATACATATATACATGTATA TATATATATACGTATATATACATATATACATGTATATATATATACGTATA TATACATATATACATGTATATATATATACGTATATACACATATATATACA TGTATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01192.hp1 HG00099.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0224 a0001c0001t0002g0225	2	383	0.0052	737	c.-42 others(748): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACACGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAT ATATATACGTATATATGTGTATATATACGTATATATATACACGTATATAT ACACATATATACATGTATATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACATATATACGTATATATATACGTATATATAC ATATATACATGTATATATATATATACGTATATATACATATATACATGTAT ATATATATACGTATATATACATATATACATGTATATATATATACGTATAT ACACATATATATACATGTATATATATGTGTATATATACATGTATATATAC ACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(730): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTATATATATACGTATATA TGTGTATATATACGTATATATATACACGTATATATACACATATATACATG TATATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACATATATACGTATATATATACGTATATATACATATATACATGTATA TATATATATACGTATATATACATATATACATGTATATATATATACGTATA TATACATATATACATGTATATATATATACGTATATACACATATATATACA TGTATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	383	0.0026	737	c.-42 others(748): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAT ATATATACGTATATATGTGTATATATACGTATATATATACACGTATATAT ACACATATATACATGTATATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACATATATACGTATATATATACGTATATATAC ATATATACATGTATATATATATATACGTATATATACATATATACATGTAT ATATATATACGTATATATACATATATACATGTATATATATATACGTATAT ACACATATATATACATGTATATATATGTGTATATATACATGTATATATAC ACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(730): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATATGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTATATATATACGTATATA TGTGTATATATACGTATATATATACACGTATATATACACATATATACATG TATATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACATATATACGTATATATATACGTATATATACATATATACATGTATA TATATATATACGTATATATACATATATACATGTATATATATATACGTATA TATACATATATACATGTATATATATATACGTATATACACATATATATACA TGTATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	383	0.0026	737	c.-42 others(748): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATATGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAT ATATATACGTATATATGTGTATATATACGTATATATATACACGTATATAT ACACATATATACATGTATATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACATATATACGTATATATATACGTATATATAC ATATATACATGTATATATATATATACGTATATATACATATATACATGTAT ATATATATACGTATATATACATATATACATGTATATATATATACGTATAT ACACATATATATACATGTATATATATGTGTATATATACATGTATATATAC ACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(730): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATACATAT ATACTATATATATACATATATACACATATATACGTATATATATGTATATA TACATATATACGTGTATATACGTATATACATGTATATACGTATATATACA CATATATACATGTATATATACGTATATATACACATATATACGTGTATATA TACGTATATATACACATATATACGTGTATATATACATGTATATATACACA TATATACATGTATATATATACGTATATATACATGTATATATACGTACGTA TATATACATGTATATATACGTACGTATATATACATGTATATATACGTACG TATATATACGTATATATACGTACGTATATATATACGTATATATACACATA TATACATGTATATATATACGTATATATACATATATACGTGTATATATATA CGTATATATACATATATACGTATATATATATACGTATATATACATATATA CGTATATATATACGTATATATACATATATACGTATATATATACGTATATA TATACATATATACATGTATATATATATACGTATATATACATATATACATG TATATATATACGTATATATACATATATACATGTATATATATATACGTATA TATACATATATACATGTATATATATATACGTATATACACATATATATACA TGTATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	383	0.0026	737	c.-42 others(748): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATACATATATACTATATATATACATATATACACATATATACGT ATATATATGTATATATACATATATACGTGTATATACGTATATACATGTAT ATACGTATATATACACATATATACATGTATATATACGTATATATACACAT ATATACGTGTATATATACGTATATATACACATATATACGTGTATATATAC ATGTATATATACACATATATACATGTATATATATACGTATATATACATGT ATATATACGTACGTATATATACATGTATATATACGTACGTATATATACAT GTATATATACGTACGTATATATACGTATATATACGTACGTATATATATAC GTATATATACACATATATACATGTATATATATACGTATATATACATATAT ACGTGTATATATATACGTATATATACATATATACGTATATATATATACGT ATATATACATATATACGTATATATATACGTATATATACATATATACGTAT ATATATACGTATATATATACATATATACATGTATATATATATACGTATAT ATACATATATACATGTATATATATACGTATATATACATATATACATGTAT ATATATATACGTATATATACATATATACATGTATATATATATACGTATAT ACACATATATATACATGTATATATATGTGTATATATACATGTATATATAC ACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar

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