Joint Open Genome and Omics Platform (JoGo)

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(532): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATATATACGTA TATACACATATATACATGTATATATATATACGTATATACATATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATATA TGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	383	0.0026	539	c.-42 others(550): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATATATACGTATATACACATATATACATGTATATATATATACGTAT ATACATATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATATATGTGTATATATACATGTATATATACATATATATAC ATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(532): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATACGTATATACACATATATATACATGTATATATATATA TGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	383	0.0026	539	c.-42 others(550): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATACGTATATACACATATATATAC ATGTATATATATATATGTGTATATATACATGTATATATACATATATATAC ATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(532): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATA TGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	383	0.0026	539	c.-42 others(550): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATATGTGTATATATACATGTATATATACATATATATAC ATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(532): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACGTGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATATACGTATA TATACATATATACATGTATATATATATACGTATATACACATATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATATA TGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	383	0.0026	539	c.-42 others(550): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACGTGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATATACGTATATATACATATATACATGTATATATATATACGTATAT ACACATATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATATATGTGTATATATACATGTATATATACATATATATAC ATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(533): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATG GGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGATAAATGGGTGGGTGGAATGGATAAATGAGTGGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAA TGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG06807.hp2 HG02559.hp1 HG06807.hp2	a0001 a0033 a0001 a0033	a0001c0026 a0033c0054 a0001c0026 a0033c0054	a0001c0026t0001 a0033c0054t0001 a0001c0026t0001 a0033c0054t0001	a0001c0026t0001g0272 a0033c0054t0001g0072 a0001c0026t0001g0272 a0033c0054t0001g0072	2	357	0.0056	540	c.278 others(557): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTAGCCA TCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACTCATTTATCCATTCCACCCACCCATTT ATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAGCCATCC CACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACC CATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATC CATCCATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCAT TTATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCAT CCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCA CCCCCTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCA TTTATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173269	A A	ACATCACC others(533): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAG CCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCC CCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCA ACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAACACAT CACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCAC CTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGC CCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCC AACACATCACCTCAGTCCACCCCCCCATCACCTCAGCCCACCCAACACAT CACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0021 a0001c0001t0044g0021	1	337	0.0030	540	c.61+ others(555): Show c.61+6397_61+6398insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGTGGACTGA GGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAG GTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGG GTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGC TGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTRT2_chr1_3016467_3027903	3016686	A A	AGGGACGG others(533): Show AGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGAGGG AGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGG AGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGG AGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGG AAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAG GAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGG GGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAA GGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAG GAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	366	0.0027	540	c.-50 others(551): Show c.-5001_-5000insGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGA GGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGA AGAAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGA GGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGA GGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGG AGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGA AGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGG GAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAG GAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAG GGAGGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGG GGAAGC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4780		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016686	A A	AGGGACGG others(533): Show AGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGG AGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGG AGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGG AGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGG AAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGGAAGGGAAG GAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGG GGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAA GGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAG GAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02647.hp1 others(3): Show HG02109.hp1 HG02145.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	366	0.0164	540	c.-50 others(551): Show c.-5001_-5000insGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGA GGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGA AGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGA GGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGA GGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGG AGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGA AGAGAGGAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGG GAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAG GAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAG GGAGGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGG GGAAGC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4780		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(533): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	540	c.-10 others(551): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATATAAATTTTTATATATGATATATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADCK5_chr8_144369047_144398242	144380667	T T	TGGGTGTA others(533): Show TGGGTGTAGAAACAGATGTGTGCTCAGGCGCCTGCTGCACTCAGGATTAT GGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGGA TTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTC AGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGC ACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTG CGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTGCTCAGACG CCTCCCGCACTCAGGATTATGGGCCAGGTGCAGAAACAGATGTGTGCTCA GGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGAGATGTGTG CTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATG TGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCTGGGTGTAGAAACA GATGTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0041 a0001c0010t0001g0041	1	346	0.0029	540	c.116 others(557): Show c.116+1205_116+1206insGCCTGCTGCACTCAGGATTATGGGCCGG GTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGGATTATGGG CCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGTCAGAATTA TGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGG ATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCGGCACT CAGCATTATGGGCGGGGTGTAGAAACAGATGTGTGCTCAGACGCCTCCCG CACTCAGGATTATGGGCCAGGTGCAGAAACAGATGTGTGCTCAGGCACCT GCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGAGATGTGTGCTCAGGC GCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTC AGGCACCTGCCGCACTAAGGATTATGGGCTGGGTGTAGAAACAGATGTGT GCTCAGGCACCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGAT GTGTGCTCAGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144380667	T T	TGGGTGTA others(533): Show TGGGTGTAGAAACAGATGTGTGCTCAGGCGCCTGCTGCACTCAGGATTAT GGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCGCCTCCCGCAGTCAGGA TTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTA AGGATTATGGGCCGGGTGCAGAAACAGATGTGCGATCAGGCACCTCCCGC AGTCAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTC CCGCAGTCAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCA CCTGCTGCACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCA GGCACCTGCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTG CTCAGACGCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAGATG TGTGCTCAGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGA GATGTGTGCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp2 NA20129.hp2 HG02809.hp2 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205	3	346	0.0087	540	c.116 others(557): Show c.116+1205_116+1206insGCCTGCTGCACTCAGGATTATGGGCCGG GTGTAGAAACAGATGTGTGCTCAGGCGCCTCCCGCAGTCAGGATTATGGG CCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGATTA TGGGCCGGGTGCAGAAACAGATGTGCGATCAGGCACCTCCCGCAGTCAGG ATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTCCCGCAGT CAGAATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTG CACTAAGGATTATAAGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCT GCGGCACTCAGCATTATGGGCGGGGTGTAGAAACAGATGTGTGCTCAGAC GCCTCCCGCACTCAGGATTATGGGCCGGGTGCAGAAACAGATGTGTGCTC AGGCACCTGCCGCACTCAGGATTATGGGCCGGGTGTAGAAAGAGATGTGT GCTCAGGCGCCTCCCGCAGTCAGGATTATGGGCCGGGTGTAGAAACAGAT GTGTGCTCAGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRA1_chr10_133082924_133136675	133112656	G G	GGGTCTGT others(533): Show GGGTCTGTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCACGTCAGTTA TTTGGGGTCTGCGGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCATGTCG GTTATTTGGGGTCTACGGGCCACGTCAGTTATTTGGGGTCTACGGGCCGC GTCGGTTATTTGAGGTCTGTGGGCCATGTCGGTTATTTGGGGTCTACGGG CCACGTCAGTTATTTGGGGTCTGTGGGCCATGTCGGTTATTTGGGGTCTA CGGGCCACGTCAGTTATTTGGGGTCTGTGGGCCATGTCGGTTATTTGGGG TCTACGGGCCGCGTCCGTTATTTGGGGTCTGTGGGCCATGTCGGTTATTT GGGGTCTACGGGCCACGTCAGTTATTTGGGGTCTGTGGGCCATGTCGGTT ATTTGGGGTCTACGGGCCACGTCAGTTATTTGGGGTCTGCGGGCCGCGTC GGTTATTTGAGGTCTGTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCA CGTCAGTTATTTGGGGTCTACGGGCCGCGTCGGTTATTTGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0351 a0001c0001t0005g0351	1	368	0.0027	540	c.401 others(557): Show c.401+9901_401+9902insTGGGCCATGTCGGTTATTTGGGGTCTAC GGGCCACGTCAGTTATTTGGGGTCTACGGGCCGCGTCGGTTATTTGAGGT CTGTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCACGTCAGTTATTTG GGGTCTGTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCACGTCAGTTA TTTGGGGTCTGTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCGCGTCC GTTATTTGGGGTCTGTGGGCCATGTCGGTTATTTGGGGTCTACGGGCCAC GTCAGTTATTTGGGGTCTGTGGGCCATGTCGGTTATTTGGGGTCTACGGG CCACGTCAGTTATTTGGGGTCTGCGGGCCGCGTCGGTTATTTGAGGTCTG TGGGCCATGTCGGTTATTTGGGGTCTACGGGCCACGTCAGTTATTTGGGG TCTACGGGCCGCGTCGGTTATTTGAGGTCTGTGGGCCATGTCGGTTATTT GGGGTCTACGGGCCACGTCAGTTATTTGGGGTCTGCGGGCCGCGTCGGTT ATTTGAGGTCTG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(533): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	334	0.0030	540	c.838 others(555): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(533): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	334	0.0030	540	c.838 others(555): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(533): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0048	1	334	0.0030	540	c.838 others(555): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(533): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	334	0.0030	540	c.838 others(555): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350011	G G	GAGGGGAA others(533): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGAGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	334	0.0030	540	c.838 others(555): Show c.838-815_838-814insGCCTCCCTGCCTTCTCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCTCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCTCCTGCCT CCTTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(533): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	334	0.0030	540	c.838 others(555): Show c.838-851_838-850insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCTCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350119	G G	GAGGGGAA others(533): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	334	0.0030	540	c.838 others(555): Show c.838-923_838-922insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(533): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	334	0.0030	540	c.838 others(555): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758152	T T	TCACCTGC others(533): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0047 a0047	a0047c0036 a0047c0036	a0047c0036t0001 a0047c0036t0001	a0047c0036t0001g0182 a0047c0036t0001g0182	1	300	0.0033	540	c.655 others(559): Show c.655-22012_655-22011insGTCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAAT GAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758376	T T	TCACCTGC others(533): Show TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAA CTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0193 a0011c0008t0001g0193	1	300	0.0033	540	c.655 others(559): Show c.655-22236_655-22235insGTCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCA GGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(533): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATATGTATATACAACATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACTATATATGTTGTATATACGTATATACAACATAAATATA TGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATAT ACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAT ATATAAATATATGTTGTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0025 a0001c0011t0025	a0001c0011t0025g0028 a0001c0011t0025g0028	1	236	0.0042	540	c.676 others(557): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATATATGTATATACGTATATACAACATATATTTATGTTGTA TATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACAT ATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATA CGTATATACAACATATATTTATGTTGTATATACGTATATACAACATATAT AGTATATACGTATATACAACATATATTTATATATGTATATACGTATATAC AACATATATTTATATATGTATATACGTATATACAACATATATTTATGTTG TATATACATATATACAACATATATTTATGTTGTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATA TACGTATATACAACATATATAGTATATACGTATATACAACATATATTTAT ATATGTATATACGTATATACAACATATATTTATATATGTATATACGTATA TACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP9B_chr18_79064394_79383283	79308891	T T	TGAGGAGT others(533): Show TGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCTC CAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGG TCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATC TCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAA GGTCAGGGATTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0106 a0001c0011t0006g0106	1	298	0.0034	540	c.177 others(559): Show c.1773+1668_1773+1669insTCCAGCAGGTAGAAGGTCAGGGGTTG AGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTCCA GCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGT GATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGT TGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCTC CAGCAGGTAGAAGGTCAGGGATTGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGA GTGATCCCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GTGGAGGAGTGATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT4_chr11_364499_387117	375062	T T	TGGAAGGG others(533): Show TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	184	0.0054	540	c.784 others(555): Show c.784-370_784-369insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BOP1_chr8_144257045_144296438	144281016	C C	CGGCCTTC others(533): Show CGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAAT ACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTC TCACTTTAATACCAGGTCTTTGGCCTTCTCTCACTTTCATACCAGGTCTT CGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAAT ACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTC TCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGTCTT CGGCCTTTTCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTAAT ACCAGGTCTTAGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCACTTTCATACCAGGTCTTTGGCCTTCTCTCACTTTAATACCAGGTCTT CGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCAT ACCAGGTCTTTGGCCTTCTCTCACTTTAATACCAGGTCTTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0184 a0002c0004t0001g0184	1	398	0.0025	540	c.310 others(557): Show c.310-4713_310-4712insTAAGACCTGGTATTAAAGTGAGAGAAGG CCAAAGACCTGGTATGAAAGTGAGGGAAGGCCGAAGACCTGGTATTAAAC TGAGGGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCAAAGACCT GGTATGAAAGTGAGGGAAGGCCGAAGACCTGGTATTAAACTGAGGGAAGG CCTAAGACCTGGTATTAAACTGAGAGAAGGCCGAAGACCTGGTATTAAAG TGAGAAAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCTAAGACCT GGTATTAAAGTGAGAGAAGGCCTAAGACCTGGTATTAAAGTGAGAGAAGG CCTAAGACCTGGTATTAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAG TGAGAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCCAAAGACCT GGTATTAAAGTGAGAGAAGGCCTAAGACCTGGTATTAAAGTGAGAGAAGG CCTAAGACCTGGTATTAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAG TGAGAGAAGGCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281204	T T	TCTCACTT others(533): Show TCTCACTTTAATACCAGGTCTTTGGCCTTCTCTCACTTTAATACCAGGTC TTAGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTC TCTCACTTTAATACCAGGTCTTTGGCCTTCTCTCACTTTAATACCAGGTC TTCGGCCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTC TCTCACTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTC ATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTC TCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCACTTTCATACCAGGTC TTAGGCCTTCTCTCACTTTCATACCAGGTCTTAGGCCTTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	398	0.0025	540	c.310 others(557): Show c.310-4901_310-4900insGGAAGGCCTAAGACCTGGTATGAAAGTG AGAGAAGGCCTAAGACCTGGTATGAAAGTGAGAGAAGGCCTAAGACCTGG TATTAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGGCC GAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAGTG AGAGAAGGCCGAAGACCTGGTATTAAACTGAGGGAAGGCCGAAGACCTGG TATTAAAGTGAGAGAAGGCCAAAGACCTGGTATGAAAGTGAGGGAAGGCC GAAGACCTGGTATTAAACTGAGGGAAGGCCTAAGACCTGGTATTAAACTG AGAGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCAAAGACCTGG TATTAAAGTGAGAGAAGGCCAAAGACCTGGTATGAAAGTGAGGGAAGGCC GAAGACCTGGTATTAAACTGAGGGAAGGCCGAAGACCTGGTATGAAAGTG AGAGAAGGCCTAAGACCTGGTATTAAAGTGAGAGAAGGCCAAAGACCTGG TATTAAAGTGAG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281256	C C	CGGCCTTC others(533): Show CGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCACTTTAAT ACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCCC TCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTT CGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCAT ACCAGGTCTTTGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTC TCACTTTCATACCAGGTCTTAGGCCTTCTCTCACTTTAATACCAGGTCTT CGGCCTTCTCTCACTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTCAT ACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTC TCACTTTCATACCAGGTCTTAGGCCTTCTCTCACTTTCATACCAGGTCTT AGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAAT ACCAGGTCTTCGGCCTTCTCTCAGTTTAATACCAGGTCTTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG03130.hp2 HG02109.hp2 HG03098.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0022 a0003c0005t0001g0023 a0003c0005t0001g0024 a0003c0005t0001g0022 a0003c0005t0001g0023 a0003c0005t0001g0024	3	398	0.0075	540	c.310 others(557): Show c.310-4953_310-4952insTAAGACCTGGTATTAAACTGAGAGAAGG CCGAAGACCTGGTATTAAACTGAGGGAAGGCCGAAGACCTGGTATTAAAG TGAGAGAAGGCCTAAGACCTGGTATGAAAGTGAGAGAAGGCCTAAGACCT GGTATGAAAGTGAGAGAAGGCCTAAGACCTGGTATTAAAGTGAGAGAAGG CCGAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATGAAAG TGAGAGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGGCCTAAGACCT GGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATTAAAGTGAGAGAAGG CCAAAGACCTGGTATGAAAGTGAGAGAAGGCCGAAGACCTGGTATTAAAC TGAGGGAAGGCCGAAGACCTGGTATTAAACTGAGAGAAGGCCAAAGACCT GGTATGAAAGTGAGGGAAGGCCGAAGACCTGGTATGAAAGTGAGAGAAGG CCGAAGACCTGGTATTAAAGTGAGAGAAGGCCAAAGACCTGGTATGAAAG TGAGAGAAGGCC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(533): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCT CCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCC AGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAG CCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTC CCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCT CCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCG CGCAGACCCTCACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCC TTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTT CCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	334	0.0030	540	c.-10 others(551): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCAGCCCCTCCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCC AGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCC CTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCA GCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCC AGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGC CCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCAG CCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCT CCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCC TCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(533): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACACATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATATGTATACATATGTGTATACAGATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	342	0.0029	540	c.366 others(557): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATCTGTATACACATATGTATACATATCTG TATACACATATGTATACAGATATGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATACA TATGTATACAGATATGTATACAGATATGTATACACATGTGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATATACAGATA TGTATACACATATGTATATACAGATATGTATACACATATGTATACAGATA TGTATACATATGTATACAGATATGTATATACATATGTATACAGATATGTA TATACATATGTATACAGATATGTATACATATGTATACAGATATGTATATA CATATGTATACAGATATGTATATACAGATATGTATACAGATATGTATATA CAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(533): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACACATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	342	0.0029	540	c.366 others(557): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACACATATGTATACAGATCTG TATACACATATGTATACAGATATGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATACA TATGTATACAGATATGTATACAGATATGTATACACATGTGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATATACAGATA TGTATACACATATGTATATACAGATATGTATACACATATGTATACAGATA TGTATACATATGTATACAGATATGTATATACATATGTATACAGATATGTA TATACATATGTATACAGATATGTATACATATGTATACAGATATGTATATA CATATGTATACAGATATGTATATACAGATATGTATACAGATATGTATATA CAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(533): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACACATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACAGATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	342	0.0029	540	c.366 others(557): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACACATATGTATACAGATCTG TATACACATATGTATACAGATCTGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATGTGTATACAGATATGTATACA TATGTATACAGATATGTATACAGATATGTATACACATATGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATATACAGATA TGTATACACATATGTATATACAGATATGTATACACATATGTATACAGATA TGTATACATATGTATACAGATATGTATATACATATGTATACAGATATGTA TATACATATGTATACAGATATGTATACATATGTATACAGATATGTATATA CATATGTATACAGATATGTATATACAGATATGTATACAGATATGTATATA CAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(533): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	342	0.0029	540	c.366 others(557): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATCTGTATACACATATGTATACAGATCTG TATACACATATGTATACAGATATGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATACA TATGTATACAGATATGTATACAGATATGTATACACATATGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATATACAGATA TGTATACACATATGTATATACAGATATGTATACACATATGTATACAGATA TGTATACATATGTATACAGATATGTATATACATATGTATACAGATATGTA TATACATATGTATACAGATATGTATACATATGTATACAGATATGTATATA CATATGTATACAGATATGTATATACAGATATGTATACAGATATGTATATA CAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(533): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGT ATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03654.hp2 HG02273.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0204 a0002c0002t0001g0044 a0001c0001t0002g0204 a0002c0002t0001g0044	2	342	0.0059	540	c.366 others(557): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACACATATGTATACAGATCTG TATACACATATGTATACAGATATGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATACA TATGTATACAGATATGTATACAGATATGTATACACATATGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATATACAGATA TGTATACACATATGTATATACAGATATGTATACACATATGTATACAGATA TGTATACATATGTATACAGATATGTATATACATATGTATACAGATATGTA TATACATATGTATACAGATATGTATACATATGTATACAGATATGTATATA CATATGTATACAGATATGTATATACAGATATGTATACAGATATGTATATA CAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C7orf50_chr7_992006_1143247	1039414	G G	GGGGGGGG others(533): Show GGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTGTCAGCCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGT CCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	326	0.0031	540	c.130 others(559): Show c.130-29272_130-29271insAACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC AGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTGACACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54736093	A A	ACATATAT others(533): Show ACATATATATACGTATATATATATACATATATATACGTATATATATATAC GTATATATATACATATATACGTATATATATATATATATACGTATATATAT GTATATATATACGTATATATATATACGTATATATACGTATATATATACAT ATATATACGTATATATATATACATATATATACGTATATATATATACGTAT ATATACGTATATATATATACGTATATATACGTATATATATATACATATAT ATACGTATATATATATACGTATATATATACGTATATACGTATATATATAT ATATACGTATATATATGTATATATATACGTATATATATATACATATATAT ACGTATATATATACATATATACGTATATATATATATACGTATATATATGT ATATATATACGTATATATATATACATATATATACGTATATATATATACAT ATATATACGTATATATATGTATATATATATACGTATATATATGTATATAT ATATACGTATATATATGTATATATATATACGTATATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0102 a0001c0014t0001g0102	1	118	0.0085	540	c.116 others(561): Show c.1168-16506_1168-16505insCATATATATACGTATATATATATA CATATATATACGTATATATATATACGTATATATATACATATATACGTATA TATATATATATATACGTATATATATGTATATATATACGTATATATATATA CGTATATATACGTATATATATACATATATATACGTATATATATATACATA TATATACGTATATATATATACGTATATATACGTATATATATATACGTATA TATACGTATATATATATACATATATATACGTATATATATATACGTATATA TATACGTATATACGTATATATATATATATACGTATATATATGTATATATA TACGTATATATATATACATATATATACGTATATATATACATATATACGTA TATATATATATACGTATATATATGTATATATATACGTATATATATATACA TATATATACGTATATATATATACATATATATACGTATATATATGTATATA TATATACGTATATATATGTATATATATATACGTATATATATGTATATATA TATACGTATATATATG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37			chr3	TogoVar
CCDC183_chr9_136791338_136812741	136803080	G G	GGGGGCCC others(533): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	398	0.0025	540	c.666 others(555): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803280	G G	GCCGGGGG others(533): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	398	0.0025	540	c.666 others(555): Show c.666+495_666+496insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC TCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803282	T T	TGGGGGCC others(533): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCA GGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0370 a0001c0001t0002g0370	1	398	0.0025	540	c.666 others(555): Show c.666+500_666+501insGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAG GGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(533): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0221 a0001c0001t0034g0221	1	256	0.0039	540	c.-45 others(561): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61353603	A A	ACTGCCTT others(533): Show ACTGCCTTCCTCCCCCTCCTCCCCATCTTTCTCCCCTTCCCCCTCCCCCC TCCTCTGTCTTCCCCCTACTCCTCCCCTTCTCCCTCCCCCTTCTCCCCCT CTTCCTCCCCTTCCCCCGTCCTTTCCCCCCTCCTCCTCCTCCCCTTCCCC CTCCCATTACCCCTTCTCCCCCTCCTCCTCCTCCCCCTCCTCCCCCTCCC CCTGTTCCCCTTTTCCTCTGGAAGGCGATGAGAATACAGTATGATGATTC ACCCTTCCCCTCCCCCTCCCCCTCCCTCCTCCTCCCCCTACTCTTCCTCC CCCTCCTCCTCCCTCTCCCCTCCCTCTCCTTCCCCTCCCTCCTCCTCCTC CCCCTCCCCTCCTCCTCCTCTTCCCCCTCCTCCTCTTCTTCCTCCCTTCC CCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCCCTGTTCCCCTTTTCCTCT GGAAGGTGATGAGGGTACAGTATGATGATTCACCCTCCCCCCCCCTCCTC CCTCCCCCTCCCCTCCTCCTCCTCTTCCCCCTCCACCTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0029 a0001c0006t0006g0029	1	106	0.0094	540	c.169 others(559): Show c.169+98668_169+98669insGCCTTCCTCCCCCTCCTCCCCATCTT TCTCCCCTTCCCCCTCCCCCCTCCTCTGTCTTCCCCCTACTCCTCCCCTT CTCCCTCCCCCTTCTCCCCCTCTTCCTCCCCTTCCCCCGTCCTTTCCCCC CTCCTCCTCCTCCCCTTCCCCCTCCCATTACCCCTTCTCCCCCTCCTCCT CCTCCCCCTCCTCCCCCTCCCCCTGTTCCCCTTTTCCTCTGGAAGGCGAT GAGAATACAGTATGATGATTCACCCTTCCCCTCCCCCTCCCCCTCCCTCC TCCTCCCCCTACTCTTCCTCCCCCTCCTCCTCCCTCTCCCCTCCCTCTCC TTCCCCTCCCTCCTCCTCCTCCCCCTCCCCTCCTCCTCCTCTTCCCCCTC CTCCTCTTCTTCCTCCCTTCCCCCTCCTCCTCCTCCCTCTCCTCCTCCTC CCCCTGTTCCCCTTTTCCTCTGGAAGGTGATGAGGGTACAGTATGATGAT TCACCCTCCCCCCCCCTCCTCCCTCCCCCTCCCCTCCTCCTCCTCTTCCC CCTCCACCTCTTCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(533): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGAAGGGTTTGTGGATGAATGGGTGGATGGATGG ATGGGTGTGTGGTTGGATGGATGGATGGATGGATGGATGGATAGAAGGGT GGGTAGGAGGATGAGTGGATGGATGGATGGATGGATAGATGGGTGGATGG GTGGATGAATGATGGGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTG GATTGGTGAATGAATTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGAT GGTGGGTGATGGGTGAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGAT GGATGGATGGGTGGATGAATAGGTGGGTGGGTGGATGGATGAATGAATGG ATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGAATGAATGGATGGAT GGATGAATAGGTGGGTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGG ATGTGTGGATGGGTGGGTGGATGGATGAATGAATGGATGGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04228.hp1 HG03834.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0026 a0001c0002t0001g0046	2	262	0.0076	540	c.259 others(559): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGAAGGGTTTGTGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGATGGATGGATGGAT GGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAGTGGG TGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAGGTGG GTGGGTGGATGGGTGGATGGTGGGTGATGGGTGAATGGGTGTGTATTTGG GTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGTGGGT GGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGG GTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGGAT GAGTGGATGGGTGGATGGATGTGTGGATGGGTGGGTGGATGGATGAATGA ATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(533): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGAAGGGTTTGTGGATGAATGGGTGGATGGATGG ATGGGTGTGTGGTTGGATGGATGGATGGATGGATGGATGGATAGAAGGGT GGGTAGGAGGATGAGTGGATGGATGGATGGATGGATAGATGGGTGGATGG GTGGATGAATGATGGGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTG GATTGGTGAATGAATTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGAT GGTGGGTGGTGGGTGAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGAT GGATGGATGGGTGGATGAATAGGTGGGTGGGTGGATGGATGAATGAATGG ATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGAATGAATGGATGGAT GGATGAATAGGTGGGTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGG ATGTGTGGATGGGTGGGTGGATGGATGAATGAATGGATGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(38): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01516.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02083.hp1 HG02165.hp1 HG02630.hp1 HG03098.hp1 HG03209.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp2 NA18522.hp2 NA18951.hp2 NA18966.hp1 NA18970.hp1 NA18980.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19011.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0003t0004 a0001c0005t0007	a0001c0001t0001g0024 a0001c0001t0001g0132 a0001c0001t0002g0103 others(38): Show a0001c0001t0001g0024 a0001c0001t0001g0132 a0001c0001t0002g0103 a0001c0001t0002g0198 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0003g0127 a0001c0001t0003g0162 a0001c0001t0004g0008 a0001c0001t0004g0102 a0001c0001t0004g0129 a0001c0001t0005g0021 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0002g0025 a0001c0002t0002g0030 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0003g0016 a0001c0002t0003g0022 a0001c0002t0003g0029 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0042 a0001c0002t0005g0027 a0001c0002t0005g0035 a0001c0002t0010g0050 a0001c0003t0004g0128 a0001c0003t0004g0131 a0001c0003t0004g0134 a0001c0005t0007g0045	41	262	0.1565	540	c.259 others(559): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGAAGGGTTTGTGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGATGGATGGATGGAT GGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAGTGGG TGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAGGTGG GTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGTGTATTTGG GTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGTGGGT GGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGG GTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGGAT GAGTGGATGGGTGGATGGATGTGTGGATGGGTGGGTGGATGGATGAATGA ATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(533): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGAAGGGTTTGTGGATGAATGGGTGGATGGATGG ATGGGTGTGTGGTTGGATGGATGGATGGATGGATGGATGGATAGAAGGGT GGGTAGGAGGATGAGTGGATGGATGGGTGGATGGATAGATGGGTGGATGG GTGGATGAATGATGGGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTG GATTGGTGAATGAATTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGAT GGTGGGTGGTGGGTGAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGAT GGATGGATGGGTGGATGAATAGGTGGGTGGGTGGATGGATGAATGAATGG ATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGAATGAATGGATGGAT GGATGAATAGGTGGGTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGG ATGTGTGGATGGGTGGGTGGATGGATGAATGAATGGATGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp1 HG02895.hp1 others(8): Show HG02486.hp1 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0004	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 others(8): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0002g0122 a0001c0001t0002g0247 a0001c0002t0001g0034 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0006t0004g0137	11	262	0.0420	540	c.259 others(559): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGAAGGGTTTGTGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGATGGATGGGTGGAT GGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAGTGGG TGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAGGTGG GTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGTGTATTTGG GTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGTGGGT GGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGG GTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGGAT GAGTGGATGGGTGGATGGATGTGTGGATGGGTGGGTGGATGGATGAATGA ATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(533): Show CTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTG TGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGTGGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	91	0.0110	540	c.177 others(559): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGC GTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGA CTGTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132888494	T T	TACCCCTG others(533): Show TACCCCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCC CTGCCGCCTGTACCCCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCC ACCTGCACCCCTGCCACCTGCACCTGCCACCTTCACCCCTGCCGCCTGTA CCCCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCGCCTGCACCCCT GCCACCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACCT TCACCCCTGCTGCCTGCACCCCACCACCTTCACCCCTGCCGCCTGCACCC CTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCC GCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCA CCTGCCACCTGCACCCCTGCAGCCTGCACCTGCCACCTTCACCCCTGCCG CCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCAC CCCGCCACCTTCACCCCTGCCACCTGCACCCCGCCACCTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0048 a0048	a0048c0107 a0048c0107	a0048c0107t0002 a0048c0107t0002	a0048c0107t0002g0103 a0048c0107t0002g0103	1	246	0.0041	540	c.330 others(559): Show c.3305-2536_3305-2535insGAAGGTGGCGGGGTGCAGGTGGCAGG GGTGAAGGTGGCGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAA GGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCTGCAGG GGTGCAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAG GTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAG GGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGTGGGGTGC AGGCAGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTG GCAGGTGCAGGTGGCAGGGGTGCAGGCGGCAGGGGTACAGGCGGCAGGGG TGAAGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGT GGCAGGGGTGCAGGTGGCAGGGGTACAGGCGGCAGGGGTGAAGGTGGCAG GGGTACAGGCGGCAGGGGTGAAGGTGGCAGGGGTACAGGCGGCAGGGGTG AAGGTGGCAGGGGT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHL1_chr3_191763_414417	262171	C C	CACAGGGC others(533): Show CACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAG GATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTC ACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACG TTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAA GCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTA GATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCT ACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACA GTACTCCCAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACT CCCAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0048 a0009c0010t0048	a0009c0010t0048g0211 a0009c0010t0048g0211	1	290	0.0035	540	c.-95 others(559): Show c.-95+17506_-95+17507insCAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCCCAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCCCA GGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCA GGATTCACACGTTTAAGCCTAGATCTACACAGTACTTACAGGGCAGGATT CACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(533): Show AAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTATATATAA AATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAA TAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATA TTTATTTTATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTT TAATATATAAAATATTTATTTTATTTATTATTTTAATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	402	0.0025	540	c.80- others(555): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTA TTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATT TTATTTATTTATTTTAATATATAAAATATTTATTTTATTTATTATTTTAA TATATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(533): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	372	0.0027	540	c.894 others(555): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(533): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACACGTATATATACTCATATACGTGTGTA TATACACGTATATATACTCATATACGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACGTGTATATATACTCATATACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	372	0.0027	540	c.894 others(555): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACACGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATA TACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACA CACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTA TATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATA CACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAG TATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar

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Search Results (Total: 10000 hits)