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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(600): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGG GAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGGAGGGAGGG GAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGGAGGGAGGGA GGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGA AGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAA AGAAAGAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0002 a0001c0004t0002g0002	1	290	0.0035	607	c.205 others(626): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTT CCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCT CCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCC CTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCC TCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTC CCTCCCCTCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCTCCCCTTCCCT CCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCT CCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCC CTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTT CTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(600): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGGAGGGAGGGAGGGAAGGCAG GGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGGAGGGAGG GGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGG GAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGA GGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGA AGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAA AGAAAGAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0233 a0001c0004t0002g0233	1	290	0.0035	607	c.205 others(626): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCC TCCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCC TCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTC CCTCCCCTCCCTCCCCTCCCTCCCCCTCCCTCCCCTCCCTCCCCTTCCCT CCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCT CCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCC CTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTT CTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370988	A A	ACATATAT others(600): Show ACATATATGATATATATCATATGTGATATATATCATATATCACATATATG ATATATATCATATGTGATATATATCATATATATCACATATATGATATATA TCATATGTGATATATATCATATATATCACATATATATATCATATGTGATA TATATCATATATATCACATATATGATATATATCATATGTGATATATATCA TATATATCACATATATGATATATATCATATATGTGATATATATCATATAT ATCACATATATGATATATATCATATATGTGATATATATCACATATGTGAT ATATATCATATCACATATCATATGACATATCATATCACATATCACATATC ACATATCATATGATATATATCACATGTGATATATAGCATATGTGATATAT ATCATATATATCACATATGATATATAGCATATGTGATATATATCATATAT ATCACATATGATATATAGCATATGTGATATATATCATATATATCACATGT GATATATAGCATATGTGATATATATGATATATGTGATATATATCATATGT GATATATATGATATATATCACATATATATGATATATATCACATATATATG ATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG00735.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	2	350	0.0057	607	c.-34 others(618): Show c.-3484_-3483insCATATATGATATATATCATATGTGATATATATCA TATATCACATATATGATATATATCATATGTGATATATATCATATATATCA CATATATGATATATATCATATGTGATATATATCATATATATCACATATAT ATATCATATGTGATATATATCATATATATCACATATATGATATATATCAT ATGTGATATATATCATATATATCACATATATGATATATATCATATATGTG ATATATATCATATATATCACATATATGATATATATCATATATGTGATATA TATCACATATGTGATATATATCATATCACATATCATATGACATATCATAT CACATATCACATATCACATATCATATGATATATATCACATGTGATATATA GCATATGTGATATATATCATATATATCACATATGATATATAGCATATGTG ATATATATCATATATATCACATATGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATGATATATGTG ATATATATCATATGTGATATATATGATATATATCACATATATATGATATA TATCACATATATATGATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3380		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(600): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGATATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCAT ACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATAT GCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATGTGATATATATGATATATGTGATATATATCATATGTGATATATAT GATATATATCACATATATATGATATATATCACATATATATCATATATATC ATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 NA20752.hp1 HG03831.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0007 a0001c0001t0002 a0002c0002t0007	a0001c0001t0002g0003 a0002c0002t0007g0139 a0001c0001t0002g0003 a0002c0002t0007g0139	2	350	0.0057	607	c.-34 others(618): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCACATATCACATATCATATGATATATATCACATGTGATATATAGCA TATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGATA TATATCATATATATCACATATGATATATAGCATATGTGATATATATCATA TATATCACATATGCTATATAGCATATGTGATATATATCATATATATCACA TATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGTA TAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATGTGATATATATGATATATGTGATATATATC ATATGTGATATATATGATATATATCACATATATATGATATATATCACATA TATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(600): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCGCATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGATATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCAT ACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATAT GCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATGTGATATATATGATATATGTGATATATATCATATGTGATATATAT GATATATATCACATATATATGATATATATCACATATATATCATATATATC ATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	350	0.0029	607	c.-34 others(618): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCGCATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCACATATCACATATCATATGATATATATCACATGTGATATATAGCA TATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGATA TATATCATATATATCACATATGATATATAGCATATGTGATATATATCATA TATATCACATATGCTATATAGCATATGTGATATATATCATATATATCACA TATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGTA TAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATGTGATATATATGATATATGTGATATATATC ATATGTGATATATATGATATATATCACATATATATGATATATATCACATA TATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF469_chr16_88377959_88445753	88401469	A A	AGATGGAT others(600): Show AGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGAGTGGATGGAT GGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGATACATGGGT GGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATGGATGGATGG ATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGATGGATGCAT GGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATGGGTGGATGA ATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGATGGATGGAT GGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTGCATGGATGG ATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGATTGGATGGAT GGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGGATGGATGGA TGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGGATACAAGGG TGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGTGGATGGATG GATGGATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG01192.hp2 others(3): Show HG01069.hp1 HG01175.hp2 HG01192.hp2 HG01993.hp2 HG02280.hp1 NA20805.hp1	a0002 a0005 a0011 others(2): Show a0002 a0005 a0011 a0097 a0099	a0002c0003 a0005c0006 a0011c0148 others(2): Show a0002c0003 a0005c0006 a0011c0148 a0097c0170 a0099c0171	a0002c0003t0002 a0005c0006t0001 a0011c0148t0023 others(2): Show a0002c0003t0002 a0005c0006t0001 a0011c0148t0023 a0097c0170t0035 a0099c0171t0004	a0002c0003t0002g0108 a0002c0003t0002g0109 a0005c0006t0001g0043 others(3): Show a0002c0003t0002g0108 a0002c0003t0002g0109 a0005c0006t0001g0043 a0011c0148t0023g0025 a0097c0170t0035g0057 a0099c0171t0004g0044	6	354	0.0170	607	c.-19 others(628): Show c.-192+18235_-192+18236insCTGGGGTGGGTGGATGGGTGAGTG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGAGTGGA TGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGATACA TGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATGGATG GATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGATGGA TGCATGGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATGGGTG GATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGATGGA TGGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTGCATG GATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGATTGGA TGGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGGATGG ATGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGGATAC AAGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(601): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA20300.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	608	c.-10 others(619): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATTTATGATA TATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATATAT TTATGATATATAAATATAAATTTTTATATATTTATATTTATGATATATAA ATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(601): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCC CTTCCTTCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTT TTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0031 a0031	a0031c0034 a0031c0034	a0031c0034t0031 a0031c0034t0031	a0031c0034t0031g0067 a0031c0034t0031g0067	1	262	0.0038	608	c.106 others(627): Show c.1061+3845_1061+3846insGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGG AAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGG AAGGGGAAGAAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGTGAAG GAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ANKLE2_chr12_132720503_132766832	132732464	G G	GCTGGTGT others(601): Show GCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGTGTGCTGGTGTCTGA TACGCACCGTGTGAAGCGCTCTGCATCCTGGTGTCTGATACGCACCGTGT GAAGCGCTCTGCATCCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGC GTCCTGGTGTCTGATATGCACCATGTGAAGCGCTCCGCGTGCTGGTGTCT GATGTGCACCGTGTGAAGCTCTCTGCGTCCCGGTGTCTGATACGCACCGT GTGAAGCTCTCTGCATCCCGGTGTCTGACATGCACCGGGTGAAGCGCTCT GCGTCCCGGTGTCTGACGTGCACCGTGTGAAGCTCTCTGCGTCCCGGTGT CTGACGTGCACCGTGTGAAGCTCTCTGCATCCCGGTGTCTGATGTGCACC GTGTGAAGCGCTCTGCATCCCGGTGTCTGATATGCGCCGTGTGAAGCTCT CTGCATCCCGGTGTCTGATATGCGCCGTGTGAAGCGCTCTGCGTCCCGGT GTCTGATATGCGCCGTGTGAAGCGCTCTGTGTCCTGGTGTGTGACATGCG CCGTGTGAAGCGCTCTGCGTCCCGGTGTCTGATATGCACCGTGTGAAGCT CTGTGCGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02717.hp1 others(4): Show HG01243.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0010 a0003c0007 a0009c0013 a0001c0010 a0003c0007 a0009c0013	a0001c0010t0002 a0003c0007t0002 a0009c0013t0005 a0001c0010t0002 a0003c0007t0002 a0009c0013t0005	a0001c0010t0002g0275 a0003c0007t0002g0009 a0003c0007t0002g0276 others(3): Show a0001c0010t0002g0275 a0003c0007t0002g0009 a0003c0007t0002g0276 a0003c0007t0002g0277 a0009c0013t0005g0013 a0009c0013t0005g0014	7	350	0.0200	608	c.189 others(627): Show c.1891+1920_1891+1921insGACGCACAGAGCTTCACACGGTGCAT ATCAGACACCGGGACGCAGAGCGCTTCACACGGCGCATGTCACACACCAG GACACAGAGCGCTTCACACGGCGCATATCAGACACCGGGACGCAGAGCGC TTCACACGGCGCATATCAGACACCGGGATGCAGAGAGCTTCACACGGCGC ATATCAGACACCGGGATGCAGAGCGCTTCACACGGTGCACATCAGACACC GGGATGCAGAGAGCTTCACACGGTGCACGTCAGACACCGGGACGCAGAGA GCTTCACACGGTGCACGTCAGACACCGGGACGCAGAGCGCTTCACCCGGT GCATGTCAGACACCGGGATGCAGAGAGCTTCACACGGTGCGTATCAGACA CCGGGACGCAGAGAGCTTCACACGGTGCACATCAGACACCAGCACGCGGA GCGCTTCACATGGTGCATATCAGACACCAGGACGCAGAGAGCTTCACACG GTGCGTATCAGACACCAGGATGCAGAGCGCTTCACACGGTGCGTATCAGA CACCAGGATGCAGAGCGCTTCACACGGTGCGTATCAGACACCAGCACACA GAGAGCTTCACACGGTGCGTATCAGACACCAG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132732464	G G	GCTGGTGT others(601): Show GCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGTGTGCTGGTGTCTGA TACGCACCGTGTGAAGCGCTCTGCATCCTGGTGTCTGATACGCACCGTGT GAAGCGCTCTGCATCCTGGTGTCTGATACGCACCGTGTGAAGCTCTCTGC GTCCTGGTGTCTGATATGCACCATGTGAAGCGCTCCGCGTGCTGGTGTCT GATGTGTACCGTGTGAAGCTCTCTGCGTCCCGGTGTCTGATACGCACCGT GTGAAGCTCTCTGCATCCCGGTGTCTGACATGCACCGGGTGAAGCGCTCT GCGTCCCGGTGTCTGACGTGCACCGTGTGAAGCTCTCTGCGTCCCGGTGT CTGACGTGCACCGTGTGAAGCTCTCTGCATCCCGGTGTCTGATGTGCACC GTGTGAAGCGCTCTGCATCCCGGTGTCTGATATGCGCCGTGTGAAGCTCT CTGCATCCCGGTGTCTGATATGCGCCGTGTGAAGCGCTCTGCGTCCCGGT GTCTGATATGCGCCGTGTGAAGCGCTCTGTGTCCTGGTGTGTGACATGCG CCGTGTGAAGCGCTCTGCGTCCCGGTGTCTGATATGCACCGTGTGAAGCT CTGTGCGTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03453.hp1 HG01109.hp1 HG03453.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0192 a0001c0010t0002g0193 a0001c0010t0002g0192 a0001c0010t0002g0193	2	350	0.0057	608	c.189 others(627): Show c.1891+1920_1891+1921insGACGCACAGAGCTTCACACGGTGCAT ATCAGACACCGGGACGCAGAGCGCTTCACACGGCGCATGTCACACACCAG GACACAGAGCGCTTCACACGGCGCATATCAGACACCGGGACGCAGAGCGC TTCACACGGCGCATATCAGACACCGGGATGCAGAGAGCTTCACACGGCGC ATATCAGACACCGGGATGCAGAGCGCTTCACACGGTGCACATCAGACACC GGGATGCAGAGAGCTTCACACGGTGCACGTCAGACACCGGGACGCAGAGA GCTTCACACGGTGCACGTCAGACACCGGGACGCAGAGCGCTTCACCCGGT GCATGTCAGACACCGGGATGCAGAGAGCTTCACACGGTGCGTATCAGACA CCGGGACGCAGAGAGCTTCACACGGTACACATCAGACACCAGCACGCGGA GCGCTTCACATGGTGCATATCAGACACCAGGACGCAGAGAGCTTCACACG GTGCGTATCAGACACCAGGATGCAGAGCGCTTCACACGGTGCGTATCAGA CACCAGGATGCAGAGCGCTTCACACGGTGCGTATCAGACACCAGCACACA GAGAGCTTCACACGGTGCGTATCAGACACCAG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(601): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACGTACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATGTATAA ATACGTACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATTTATACATATATGTATAAATACAT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT ACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0076 a0001c0001t0092g0076	1	256	0.0039	608	c.39 others(617): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACGTACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT ATGTATAAATACGTACATATTTATACATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1840129	G G	GCATGGGC others(601): Show GCATGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGT GTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGT GGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGG AAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGG ACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGCATGGGCAC TGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTG TCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGTGGGGACTGTC TGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTG GTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGT GTGGGGACTATCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGT GGGGACTGTCTGGTGTGGAAGTTGTCTGGTGTGGGGACTGTCTGGTGTGG GGACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCCGGTGTGGAA GCTGTCTGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0058 a0001c0009t0058	a0001c0009t0058g0200 a0001c0009t0058g0200	1	363	0.0028	608	c.-47 others(625): Show c.-47-3224_-47-3223insCATGGGCACTGTCCGGTGTGGGGACTGT CCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCT GGTGTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGG TGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTG TGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTG GGGACTGTCCGGCATGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGA AGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGA CAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCT GTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGT CTGGTGTGGGGACTGTCTGGTGTGGGGACTATCTGGTGTGGAAGCTGTCT GGTGTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGAAGTTGTCTGG TGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTG TGGAAGCTGTCCGGTGTGGAAGCTGTCTGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1840129	G G	GCATGGGC others(601): Show GCATGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGT GTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGT GGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGG AAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGG ACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGCATGGGCAC TGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTG TCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGTGGGGACTGTC TGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTG GTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCTGCT GTGGGGACTATCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCTGGTGT GGGGACTGTCTGGTGTGGAAGTTGTCTGGTGTGGGGACTGTCTGGTGTGG GGACTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCCGGTGTGGAA GCTGTCTGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp1 HG02818.hp2 others(3): Show HG01255.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG03139.hp1 HG03540.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0001c0100 a0009c0029	a0001c0002t0026 a0001c0003t0026 a0001c0012t0074 others(3): Show a0001c0002t0026 a0001c0003t0026 a0001c0012t0074 a0001c0100t0072 a0009c0029t0007 a0009c0029t0041	a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0012t0074g0191 others(3): Show a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0012t0074g0191 a0001c0100t0072g0199 a0009c0029t0007g0202 a0009c0029t0041g0201	6	363	0.0165	608	c.-47 others(625): Show c.-47-3224_-47-3223insCATGGGCACTGTCCGGTGTGGGGACTGT CCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCT GGTGTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGG TGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTG TGGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTG GGGACTGTCCGGCATGGGCACTGTCCGGTGTGGGGACTGTCCGGTGTGGA AGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGA CAGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCT GTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGT CTGGTGTGGGGACTGTCTGCTGTGGGGACTATCTGGTGTGGAAGCTGTCT GGTGTGGGGACAGTCTGGTGTGGGGACTGTCTGGTGTGGAAGTTGTCTGG TGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTG TGGAAGCTGTCCGGTGTGGAAGCTGTCTGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9406031	G G	GTGTTTGT others(601): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCC TTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCA GTGTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0015 a0004c0015t0015	a0004c0015t0015g0123 a0004c0015t0015g0123	1	210	0.0048	608	c.27 others(619): Show c.2704_*2705insTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCT AGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTC TTCCTCAGGCCTTCAGTGTGTGTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(601): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC TGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGA GCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCC CTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCG GGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	391	0.0026	608	c.36 others(619): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTC CTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAG AGCCAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(601): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACC TCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTC CCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGG TCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTC CGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCC TGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCC CCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	326	0.0031	608	c.19 others(619): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC CGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGG AAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAG GTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGG AGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGG GGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C20orf96_chr20_265863_295750	278978	G G	GGGCGGGA others(601): Show GGGCGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGGGCGGGACA GAGGGAGGGAGGGAGGGAGGAAGGGCGGGACAGAGGGAGGGAGGGAGGGA GGGAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGGGCGGGAGGGA GGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGG GCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGA GGGCGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGA GGAAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGAAGGGCGGGACAGAGG GAGGGAGGGAGGGAGGGAGGGCGGGACAGAGGGAGGGAGGGAGGGAGGGA GGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAAGG GCGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGAA GGGCGGGAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	410	0.0024	608	c.465 others(623): Show c.465+193_465+194insGTCCCGCCCTTCCTCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTTCCTCCCTCCGTCCCTCC CTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCCT CTGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCC CTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCCGTCCCTCCCTCCCT CCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC CTCCGTCCCGCCCTCCCGCCCTCCCGCCCTCCCTCCGTCCCGCCCTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCC CTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCCGCCCTTCCTCCCT CCGTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC CTCCCTCCCTCCCTCTGTCCCGCCCTCCCTCCCTCCCTCCCTCCCTCTGT CCCGCCCTTCCTCCCTCCCTCCCTCCCTCTGTCCCGCCCTTCCTCCCTCC GTCCCTCCCTCCCTCCCTCCCTCCCGCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(601): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0015 a0001c0003t0026g0015	1	146	0.0069	608	c.238 others(627): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANT1_chr17_78986716_79014764	79004454	A A	AGGGGAGT others(601): Show AGGGGAGTTAGGGAGGGGGGAATTGGGGAGGGGAGTTAGGAAGAGGGGAG TTAGGGAGAGGGGAGTTAGTGAGTGGGGAGTTAGGGAGGGGGAGTTAGGG AGAGGGGAGTTAGGGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAG TTAGGGAGAGGAGTTGGGGGGGAGTTAGGGAGGGGTGTTAGGGAGAGGGG GGTTAGGGAGAGGGGAGTTAGGGAGAGGGAGGTTAGGGAGGGGAGTTAGG GAGAGGAGAGTTAGGGAGAGGGGAGCTAGGGAGAGGACAGTTAGGGAGAG GAGTTAGGGAGGGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAG GGAGAGGGAGGTTAGGGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGG GGGGTTAGGGAGAAGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTA GGGAGGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGG GGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGGGAGTT AGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGA GGAGTTGGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA20300.hp2 HG01978.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0167 a0001c0001t0001g0173	2	394	0.0051	608	c.-14 others(627): Show c.-147+5209_-147+5210insCCCAACTCCTCTCCCTAACTCCCCTC TCCCTAACTCCCCTCTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAA CTCCCCTCTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAACTCCCCT CTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAACTCCCCTCTCCCTA ACTCCCCTCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCTAACCCCCC TCTCCCTAACTCCCCTCCCTAACCTCCCTCTCCCTAACTCCCCTCTCCCT AACTCCCCTCCCTAACTCCCCCCTCCCTAACTCCTCTCCCTAACTGTCCT CTCCCTAGCTCCCCTCTCCCTAACTCTCCTCTCCCTAACTCCCCTCCCTA ACCTCCCTCTCCCTAACTCCCCTCTCCCTAACCCCCCTCTCCCTAACACC CCTCCCTAACTCCCCCCCAACTCCTCTCCCTAACTCCCCTCTCCCTAACT CCCCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCCTAACTCCCCCTCCC TAACTCCCCACTCACTAACTCCCCTCTCCCTAACTCCCCTCTTCCTAACT CCCCTCCCCAATTCCCCCCTCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(601): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCATCCAACCCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCT CCCACTATGTCCTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCCC ACTACTACTCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCA CTATTCCCCCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTA CTACTCACCTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCT TCCAACCCTCCTACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCCA CTATTCCCCCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCCCACT ACTACCTACCTTCCAACCCTCCCACTATTTCCTCCCACCACTCACCTTCC AACCCTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0153 a0001c0001t0009g0153	1	242	0.0041	608	c.266 others(625): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGTGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGT TGGAAGGTGAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(601): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCATCCAACCCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCT CCCACTATGTCCTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCCC ACTACTACTCACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCA CTATTCCCCCCTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTA CTACTCACCTTCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCT TCCAACCCTCCTACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCCA CTATTCCCCCACTACTGCCCACCTTCCAACCCTCCCACTATTCCCCCGCT ACTACCTACCTTCCAACCCTCCCACTATTTCCTCCCACCACTCACCTTCC AACCCTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19011.hp2 HG03453.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0054 a0001c0001t0002 a0001c0001t0054	a0001c0001t0002g0106 a0001c0001t0054g0089 a0001c0001t0002g0106 a0001c0001t0054g0089	2	242	0.0083	608	c.266 others(625): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGA GGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAA GGGTTGGAAGGTGAGTAGTAGGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTACTGGGAGGGTTGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTG GAAGGTGAGTAGTGGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAG TGGGGGGGAAATAGTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATA GTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGG AAGGTGAGTAGTGGGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAG TGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGT TGGAAGGTGAGTAGCAGGGGAGGAAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(601): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	398	0.0025	608	c.666 others(623): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(601): Show CACTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTAGTTATATATACTATATATACTATATATAGTTTAAATATAT ACTATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0363 a0001c0002t0012g0363	1	396	0.0025	608	c.349 others(623): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTAGTTATATATACTATATATACTATATATAGTTTAAATATAT ACTATATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(601): Show CACTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTAGTTATATATACTATATATACTATATATAGTTTATATATAT ACTATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG03225.hp1 others(1): Show HG02145.hp2 HG02486.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0028 others(1): Show a0001c0002t0004 a0001c0002t0012 a0001c0002t0028 a0001c0002t0030	a0001c0002t0004g0109 a0001c0002t0012g0094 a0001c0002t0028g0236 others(1): Show a0001c0002t0004g0109 a0001c0002t0012g0094 a0001c0002t0028g0236 a0001c0002t0030g0087	4	396	0.0101	608	c.349 others(623): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATACT ATATATAGTAGTTATATATACTATATATACTATATATAGTTTATATATAT ACTATATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(601): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCT CTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	256	0.0039	608	c.-45 others(629): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(601): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0162 a0004c0005t0002g0162	1	334	0.0030	608	c.-25 others(619): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(601): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0168 a0002c0002t0022g0168	1	334	0.0030	608	c.-25 others(619): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(601): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0042 a0006c0011t0042	a0006c0011t0042g0039 a0006c0011t0042g0039	1	334	0.0030	608	c.-25 others(619): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065114	A A	ATAGTATT others(601): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATT AAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAA GAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGA GGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0006 a0006c0011t0006	a0006c0011t0006g0264 a0006c0011t0006g0264	1	334	0.0030	608	c.-25 others(619): Show c.-2598_-2597insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2249		chr11	TogoVar
CDON_chr11_125951821_126067866	126065162	A A	ATAGTATT others(601): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTG GTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0006 a0008c0007t0006	a0008c0007t0006g0260 a0008c0007t0006g0260	1	334	0.0030	608	c.-26 others(619): Show c.-2646_-2645insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2297		chr11	TogoVar
CDON_chr11_125951821_126067866	126065194	A A	ATAGTATT others(601): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0006 a0008c0007t0006	a0008c0007t0006g0294 a0008c0007t0006g0294	1	334	0.0030	608	c.-26 others(619): Show c.-2678_-2677insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2329		chr11	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(601): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAA TATTTTATT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	402	0.0025	608	c.80- others(623): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATT TTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL5A1_chr9_134636803_134849843	134657126	G G	GGGGGTGG others(601): Show GGGGGTGGGGAGGGGGGTACAGTTTATAGATGATATGGGGGTGGGGAAGG GATGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATG GGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGG TACAGTTTATAGATAATATGTAGGCGGGGCGGGGGTGTAGTTTATAGGTA ATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGG GGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTA GTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATA TGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAG GGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTAT AGATAATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0047 a0001c0006t0047	a0001c0006t0047g0019 a0001c0006t0047g0019	1	272	0.0037	608	c.109 others(627): Show c.109+14834_109+14835insTGGGGAGGGGGGTACAGTTTATAGAT GATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGG ACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAA TATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGTAGGCGGGGCG GGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTA TAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGG GGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGG GTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGAT AATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGG GGTAGGGGGTGTAGTTTATAGATAATATGGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729515	A A	AGTGTGTG others(601): Show AGTGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0266 a0001c0003t0004g0266	1	272	0.0037	608	c.925 others(623): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(601): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0004 a0001c0039t0004	a0001c0039t0004g0197 a0001c0039t0004g0197	1	272	0.0037	608	c.925 others(623): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(601): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGT ATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTAT ATCATATAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG01192.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0248 a0001c0001t0001g0249	2	448	0.0045	608	c.51+ others(623): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGT ATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTAT ATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DAG1_chr3_49465267_49540615	49472635	C C	CTCTCTAC others(601): Show CTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCACCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGTTGAGATAGAGCCACTGCACTCCAGCCTGGG CCACAGATCGAGACTCCGTCTCAAAAACAAAACAAAAAACAACTTTATCT CCAGGCAGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATTC TGAGGCAGGTGGATTACCTGAGGTCAGGAGTTCAGGACCAGCCTGGCCGA CATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAATTAGCCAGGCATG GTGGCGGGCGCCTTTAATCGCAGCTACTCGGGAGGCTGAGACAGGAGAAT CGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAAAGCCTGGGTGAC AAGAGCAAAACTCGGTCTCAAAAAAAATAAAAAATAAAACAAAACAACTG GCCAGGCGCGGTGGCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAG GCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGT GAAACCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	238	0.0042	608	c.-11 others(627): Show c.-117+2231_-117+2838dupGGGCGTGGTGGTGGGCACCTGTAGTC CCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGTTGAGATAGAGCCACTGCACTCCAGCCTGGGCCACA GATCGAGACTCCGTCTCAAAAACAAAACAAAAAACAACTTTATCTCCAGG CAGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATTCTGAGG CAGGTGGATTACCTGAGGTCAGGAGTTCAGGACCAGCCTGGCCGACATGG TGAAACCCCGTCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTGGC GGGCGCCTTTAATCGCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTT GAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAAAGCCTGGGTGACAAGAG CAAAACTCGGTCTCAAAAAAAATAAAAAATAAAACAAAACAACTGGCCAG GCGCGGTGGCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG TGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAAC CCTGTCTCTACTAAAAATACAAAAAATTAGCC	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1471343	C C	CGACCCCT others(601): Show CGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAG CTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACC CCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTT CCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCCTTTCCCGACCCCTCC AGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGA CCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCCT TTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCCGACCCCT CCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCTTTTCCC GACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGC CTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCCTTTCCCGACCC CTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTC CTGACCCCTCCAGCCTTTCCCGACCCCTGCAGCCTTTCCCGACCCCTCCA GCTTTTCCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	608	c.107 others(627): Show c.107-30011_107-30010insCTTTCCCGACCCCTCCAGCTTTTCCT GACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGC TTTTCCTGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCC CTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCCTTTC CCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCA GCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGAC CCCTCCAGCCTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTT TCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTC CAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTG ACCCCTCCAGCCTTTCCCGACCCCTCCAGCTTTTCCTGACCCCTCCAGCC TTTCCCGACCCCTCCAGCTTTTCCCGACCCCTCCAGCCTTTCCCGACCCC TCCAGCTTTTCCTGACCCCTCCAGCCTTTCCCGACCCCTGCAGCCTTTCC CGACCCCTCCAGCTTTTCCTGACCCCTCCAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJB6_chr7_157332004_157422439	157369638	T T	TTTCTTCA others(601): Show TTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTAT TAAACAGGCCCCTTCTTAACGTTATTATTAAACAGGCCTTTCATAACGTT ATTATTAAACGGGCCCCTTCTTCACATTGTTATTAAAGAGGCCCCTTCTT AACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACA GGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATT AAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTA TTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAA TGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGGGCCCCTTCTTCACATTGTTATTAAAGAGG CCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAA ACGGGCCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	372	0.0027	608	c.346 others(625): Show c.346+2274_346+2275insGTTATTATTAAACAGGCCTTTCATAACG TTATTATTAAACGGGCCCCTTCTTCACATTGTTATTAAAGAGGCCCCTTC TTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCC CCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAA CAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTA TTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACAT TATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCAT AATGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGCCT TTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTGTTATTAAAGA GGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATT AAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATT ATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTC ACATTATTATTAAACAGGCCCCTTCTTAAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137716132	T T	TTGGTGTC others(601): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0029 a0001c0016t0001g0029	1	170	0.0059	608	c.86- others(621): Show c.86-466_86-465insTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM153A_chr5_177718364_177787899	177782643	T T	TATCCAAC others(601): Show TATCCAACCCCCAATCCGCGATCCAACCTCCAATCCGCGATCCAAACCCC AATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGATCC AACTCCCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCC GTGATCCAACTCAACATCCGCTATCCAACCCCCAATCCGCGATCCAAACC CCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAATCCGCGAT CCAAACCCCAATCCGCGATCCAACCCCCAATCCGCGATCCAACCCCCAAT CCGCGATCCAACTCCCAATCCGCGATCCAACCCCCAATCCGCGATCCAAC CCCCAATCCGTGATCCAACTCAACATCCGCGATCCAACCCCCAATCCGCG ATCCAAACCCCAATCCGCGATCCAACCCCCAATCCGTGATCCAAATCCCA ATCCGTGATCCAACCCCCAATCCGTGATCCAAACCCCAATCCGTGATCCA AACCCCAATCCGCGATCCAACCCCCAATCCGTGATCCAACTCAAAATCCC CGATCCAAATCCCAATCCGTGATCCAACCCCCAATCCGCGATCCAACCCC CAATCCGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01255.hp1 HG01255.hp2 HG01952.hp1 HG02071.hp1 HG02071.hp2 HG02258.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03831.hp1 HG03831.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18974.hp1 NA18974.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0004 a0004c0004t0006	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(24): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0005g0003 a0001c0001t0005g0004 a0002c0002t0004g0010 a0002c0002t0004g0026 a0002c0002t0004g0027 a0004c0004t0006g0025	28	36	0.7778	608	c.-33 others(624): Show c.-338+99_-338+100insCACGGATTGGGGGTTGGATCGCGGATTGG GGGTTGGATCACGGATTGGGATTTGGATCGGGGATTTTGAGTTGGATCAC GGATTGGGGGTTGGATCGCGGATTGGGGTTTGGATCACGGATTGGGGTTT GGATCACGGATTGGGGGTTGGATCACGGATTGGGATTTGGATCACGGATT GGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGGTTGGATC GCGGATGTTGAGTTGGATCACGGATTGGGGGTTGGATCGCGGATTGGGGG TTGGATCGCGGATTGGGAGTTGGATCGCGGATTGGGGGTTGGATCGCGGA TTGGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGGGGTTGGA TCGCGGATTGGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTGGG GGTTGGATAGCGGATGTTGAGTTGGATCACGGATTGGGGGTTGGATCGCG GATTGGGGGTTGGATCGCGGATTGGGAGTTGGATCGCGGATTGGGGGTTG GATCGCGGATTGGGGGTTGGATCGCGGATTGGGGTTTGGATCGCGGATTG GAGGTTGGATCGCGGATTGGGGGTTGGAT	FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding	1/22			chr5	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(601): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATATTTATATAT ATATAAATATATATATTTATATATATATAAATATATATATTTATATATAT ATACATATAAATATATATTTATATACATATAAATATATAATTATATACAT ATAAATATATATAATTATATACATATAAATATATATTTATATACATATAA ATATATATTTATATACATATAAATATATATATTTATATACATATAAATTT ATATACATATAAATATATATATTTATATTTATATACATATAAATATAAAT ATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	292	0.0034	608	c.49 others(619): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAATTATATATATTTATATGTATATAATTATATATTTATATG TATATAAATATATATTTATATGTATATATATATAAATATATATATTTATA TATATATAAATATATATATTTATATATATATAAATATATATATTTATATA TATAAATATATATATTTATATATATAAATATATATATTTATATATATAAA TATATATATTTATATATATAAATATATATTTATATGTATATATGTATATG TATTATATGTATATAAATATATATATTTATATGTTTGTAAATATATATTT ATATGTATGTAAATATATATTTATATGTATATAAATATATATATTTATAT GTATATAAATATATATTTATATGTATATAAATATATATATTTATATGTAT ATAATATACATACATATATATTATATACATATATATTTATATGTATATAA TATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(601): Show ATGTATATACATATAAATATATATGTATGTATATTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTACATACATATAAATATATATTTACATACATA TAAATATATACATTTATATACATATAAATATATACATATATACATATAAA TATATATTTATATACATATAAATATATATATTTATATATATTTATATATA TATAAATATATATATATTTGTATATATATATAAATATATATATATTTATA TATATATAAATATATATATATTTATATATATATACATATAAATATATATT TATATACATATAAATATATAATTATATACATATAAATATATAATTATATA CATATAAATATATATAATTATATACATATAAATATATATTTATATACATA TAAATTTATATACATATAAATATAAATATTTATATTTATATACATATAAA TATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0281 a0004c0005t0003g0281	1	292	0.0034	608	c.49 others(619): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATTTATATGTATATAAATATATATTTATAT GTATATAATTATATATATTTATATGTATATAATTATATATTTATATGTAT ATAATTATATATTTATATGTATATAAATATATATTTATATGTATATATAT ATAAATATATATATATTTATATATATATAAATATATATATATTTATATAT ATATACAAATATATATATATTTATATATATATAAATATATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTT ATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATAT GTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAATATACATA CATATATATTTATATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
GAS6_chr13_113815549_113869076	113824415	C C	CGCGCGGT others(601): Show CGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTG AGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCG CGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCT GTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCGGT CTGGGGTCTGAGCTGTCGGGAGCACGCGCGGTCTGGGGTCTGAGCTGTCG GGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGG GGTCTGAGCTGTCGGGAGCACGCGAGGTCTGGGGTCTGAGCTGTCGGGAG CACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTC TGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACC CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCTATGGTCTGGGGTCTGAG CTGTCGGGAGCACGCGCAGTCTGGGGTCTGAGCTGTCGGGAGCACGCGGG GTCTGGGGTCTGAGCTGTCGGGAGCACCTGCGGTCTGGGGTCTGAGCTGT CGGGAGCAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01099.hp1 others(11): Show HG00423.hp1 HG00609.hp2 HG01099.hp1 HG01361.hp1 HG01943.hp1 HG01978.hp1 HG02148.hp2 HG02165.hp1 HG04204.hp1 NA18522.hp1 NA18990.hp1 NA18995.hp1 NA19074.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 others(1): Show a0001c0003 a0001c0004 a0001c0008 a0001c0017	a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0001c0017t0001	a0001c0003t0001g0006 a0001c0003t0001g0031 a0001c0003t0001g0033 others(11): Show a0001c0003t0001g0006 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0035 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0047 a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0004t0001g0080 a0001c0004t0001g0087 a0001c0004t0001g0122 a0001c0008t0001g0079 a0001c0017t0001g0024	14	143	0.0979	608	c.147 others(625): Show c.1478-866_1478-865insATGCTCCCGACAGCTCAGACCCCAGACC GCAGGTGCTCCCGACAGCTCAGACCCCAGACCCCGCGTGCTCCCGACAGC TCAGACCCCAGACTGCGCGTGCTCCCGACAGCTCAGACCCCAGACCATAG GTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAG ACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGC TCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCC CAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCC GACAGCTCAGACCCCAGACCTCGCGTGCTCCCGACAGCTCAGACCCCAGA CCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACA GCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGC GCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTGCTCCCGACAGCTC AGACCCCAGACCGCGCGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGT GCTCCCGACAGCTCAGACCCCAGACCGCGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(601): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATTTATTTA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATTTATATTTATATATTTATATTTATATATATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTAATATATATTTATATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATATTTATATTTACAAATATA TATATTTATATATATATTTATATTTATATATATTTATATTTATATATATA TATATAAATATATATTTATGTATATTTATATATATATATAAATATATATT TATATATAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0194 a0001c0001t0008g0194	1	208	0.0048	608	c.-97 others(625): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT TTATTTATATATATAAATATATATATTTATATTTATTTATATATATATAA ATATATATATTTATATTTATATTTATATATTTATATTTATATATATAAAT ATATATATTTATATTTATTTATATATATAAATATATATATTAATATATAT TTATATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATATTTATATTTAC AAATATATATATTTATATATATATTTATATTTATATATATTTATATTTAT ATATATATATATAAATATATATTTATGTATATTTATATATATATATAAAT ATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(601): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATAAATATA CATTTATATATAAATATATATAAATATACATTTATATATAAATATATATA AATATACATTTATATATAAATATATATAAATATACATTTATATATAAATA TATATAAATATACATGTATATTTATTCATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCACATATA AATATATATAAATATACATGTATATTTATTCACATATAAATATATATAAA TATACATGTATATTTATTCACATATAAATATATATAAATATACATGTATA TTTATTCAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18988.hp1 NA18965.hp1 NA18988.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0056 a0001c0003t0058 a0001c0003t0056 a0001c0003t0058	a0001c0003t0056g0020 a0001c0003t0058g0019 a0001c0003t0056g0020 a0001c0003t0058g0019	2	208	0.0096	608	c.-97 others(625): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATAAATATACATTTATATATAAATATATATAAATATACATTTA TATATAAATATATATAAATATACATTTATATATAAATATATATAAATATA CATTTATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(601): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAC GAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0016 a0009c0030t0016	a0009c0030t0016g0077 a0009c0030t0016g0077	1	308	0.0033	608	c.341 others(623): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGACGAGTCGCCCCTGGGATGGGTGACTCCTGGGACAGGTCACTCC TGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTG GGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGG ATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGAC AGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAGAAA others(601): Show CAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	320	0.0031	608	c.40+ others(625): Show c.40+10101_40+10102insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTCCTTTCTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATATA others(601): Show TATATATATATGAATATATATATGGAATATATATGGAATATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATATGTGGAATATATATATGGAATATATATATATGTGGAA TATATATATGGAATATATATATGGAATATATACATGGAATATATGTATAT GGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATGT GTATATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGA ATATATATATGGAATATATACATGGAATATATATATGGAATATATACATG GAATATATATATATGGAATATATACATGGAATATATATATATGGAATATA TACATGGAATATATATATATGGAATATATACATGGAATATATATATATAG AATATATACATGGAATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATACATGGAATATATACATGGAACATAT ACATGGAATATATACATGGAACATATACATGGAATATATATATATGGAAC ATATACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	323	0.0031	608	c.-26 others(619): Show c.-2627_-2626insATATATATATGAATATATATATGGAATATATATG GAATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAATA TATATATATGTGGAATATATATATGGAATATATATATGGAATATATACAT GGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAATAT ATACATGGAATATGTGTATATGGAATATATACATGGAATATGTGTATATG GAATATATACATGGAATATATATATGGAATATATACATGGAATATATATA TGGAATATATACATGGAATATATATATATGGAATATATACATGGAATATA TATATATGGAATATATACATGGAATATATATATATGGAATATATACATGG AATATATATATATAGAATATATACATGGAATATATATATGGAATATATAC ATGGAATATATATATATGGAATATATACATGGAATATATACATGGAATAT ATACATGGAACATATACATGGAATATATACATGGAACATATACATGGAAT ATATATATATGGAACATATACGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322704	A A	ATGGAATA others(601): Show ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATG GAATATATATACATGGAATATATATACATGGAATATATATACATGGAATA TATATACATGGAATATATATACATGGAATATATATACATGGAATATATAT ACATGGAATATATACATGGAATATATATATGGAATGTTTATATGGAATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	323	0.0031	608	c.-23 others(619): Show c.-2352_-2351insTGGAATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATACATGGAATATATATACATGGAATA TATATACATGGAATATATATACATGGAATATATATACATGGAATATATAT ACATGGAATATATATACATGGAATATATACATGGAATATATATATGGAAT GTTTATATGGAATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2265		chr21	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)