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
TMEM65_chr8_124301189_124377701	124302505	A A	ACTTATAT others(401): Show ACTTATATATAAATATATATTCTTTTATATACATATATATATTCTTTTAT ATATTTATATATAAATATATATTCTTTTATATATTTATATATAAATATAT ATTCTTTTATATATTTATATATATTCTTTTATATATTTATATATAAATAT TCTTTTATATATTTATAAATAAATATTCTTTTATATATTTATATATAAAT ATTCTTTTATATATTTATATATAAATATTCTTTTATATATTTATATATAA ATATTCTTTTATATATTTATATATAAATATTCTTTTATATATTTATATAT AAATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTT TTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG04184.hp1 HG02698.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0295 a0001c0001t0005g0008 a0001c0001t0005g0295	2	348	0.0058	408	c.11 others(421): Show c.11454_*11455insAATATATAAAAGAATATATATTTATATATAAA TATATAAAAGAATATATATTTATATATAAATATATAAAAGAATATATATT TATATATAAATATATAAAAGAATATTTATATATAAATATATAAAAGAATA TTTATATATAAATATATAAAAGAATATTTATATATAAATATATAAAAGAA TATTTATATATAAATATATAAAAGAATATTTATATATAAATATATAAAAG AATATTTATTTATAAATATATAAAAGAATATTTATATATAAATATATAAA AGAATATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATAAAAGAATATATATATGTATA TAAAAGAATATATATTTATATATAAG	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3683		chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930591	A A	AGGGTTAG others(401): Show AGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAAGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC AGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTA AGGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	466	0.0022	408	c.49 others(419): Show c.4999_*5000insCGGCCTCCTTAACCCCTGGCCTCCCTAACCCCAG CCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCTAGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCCTGGCCTCCCTAACCC CAGCCTCCCTACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4778		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507402	C C	CATACGTA others(401): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATTATACATACGTAA ATGTATATATGTATATATACATTATACATACGTAAATGTATAATGTATAT ATACATTATACATACGTAAATGTATAATGTATATATACATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATGTATATATACATTATACATACGT AAATGTATT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0333 a0001c0001t0003g0333	1	388	0.0026	408	c.-23 others(425): Show c.-23+2645_-23+2646insAATACATTTACGTATGTATAATGTATAT ATACATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTAC GTATGTATAATGTATATATACATATATACATTTACGTATGTATAATGTAT ATATACATATATACATTTACGTATGTATAATACATGTATATATACATATA TACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGT ATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATAC ATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIML1_chr4_188134441_188152743	188151105	G G	GAGTGGGG others(401): Show GAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGACTGAGAGT GGGGATGAGAAGAGGACTGAGAGTGGGGGTGAGAAGGGGAATGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0062	1	228	0.0044	408	c.37 others(419): Show c.3733_*3734insAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAG AAGGGGACTGAGAGTGGGGATGAGAAGAGGACTGAGAGTGGGGGTGAGAA GGGGAATGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGCTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAC	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3363		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151471	A A	AGGGTGAG others(401): Show AGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAATGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGG AAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGG AGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0127 a0001c0006t0002g0127	1	228	0.0044	408	c.40 others(419): Show c.4099_*4100insGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAG GGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGGGTTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAATGAGAGAGGGGTTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3729		chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097570	T T	TGTGTATA others(401): Show TGTGTATATACATACACATATACACACGTGCGTGTATATATACATATACA CACGTGCGTGTATATACATATACACGCGTGCGTATATATACATATACACG CGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCG TATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATA TACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATA CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATATA CACGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0147 a0001c0004t0002g0147	1	334	0.0030	408	c.-47 others(419): Show c.-4790_-4789insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGTAT ATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGC ACGCGTGTATATGTATATACGCACGCGTGTATATGTATATATACGCACGC GTGTATATGTATATACACGCACGTGTGTATATGTATATATACACGCACGT GTGTATATGTGTATGTATATACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4764		chr20	TogoVar
TRPC6_chr11_101446564_101589007	101558204	T T	TGTATACA others(401): Show TGTATACATGTATACATGTATACATGTATACATGTATACATGTATACATG TATACATGTATACATGTATATATGTATACATGTATACGGGTATACATGTA TATATGTATACATGTATACGGGTATACATGTATACATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATACGGGTATACATGTATACA TGTATACATGTATACGGGTATACATGTATACATGTATACATGTATACGGG TATACATGTATACATGTATACATGTATACGGGTATACATGTATACATGTA TACATGTATACGGGTATACATGTATACATGTATACATGTATACGGGTATA CATGTATACATGTATACATGTATACGGGTATACATGTATACATGTATACA TGTATACGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0242 a0001c0002t0004g0242	1	252	0.0040	408	c.170 others(427): Show c.170+25129_170+25130insCCGTATACATGTATACATGTATACAT GTATACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGT ATACATGTATACATGTATACCCGTATACATGTATACATGTATACATGTAT ACCCGTATACATGTATACATGTATACATGTATACCCGTATACATGTATAC ATGTATACATGTATACCCGTATACATGTATACATGTATACATGTATACCC GTATACATGTATACATGTATACATGTATACCCGTATACATGTATACATGT ATACATGTATACCCGTATACATGTATACATATATACATGTATACCCGTAT ACATGTATACATATATACATGTATACATGTATACATGTATACATGTATAC ATGTATACATGTATACATGTATACATGTATAC	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TUBGCP5_chr15_22994177_23044569	23041545	C C	CAGAGGTG others(401): Show CAGAGGTGCTGGGGGGGATTTCATAACCACAGCTGGCCATAGGTGCTGGG GGAGATTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGGACTTCATAAC CACACCTGGCCAGAGGTGCCAGGAGGACTTCATAACCACACCTGGCCAGA GGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTGTGGGGGG GTATTATAACCCCACCTGGCCAGAGGTGCTGGGGGGTATCATAATCCTAC CTCGACAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCAGGAGGTCC TGGTGGGCCATCATAACCCCACCTGGCCAGAGGTGCTGGGCGGCGGGGGG AACTTCTTAACCCCACCTGGCCGGAGGTGCTGGGGGTGACTTCAAAATGT CACCTGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02809.hp1 HG02896.hp1 others(3): Show HG02145.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0140 a0001c0001t0001g0141 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0270 a0001c0001t0001g0271	6	351	0.0171	408	c.-20 others(419): Show c.-2003_-2002insCGCCAGGTGACATTTTGAAGTCACCCCCAGCACC TCCGGCCAGGTGGGGTTAAGAAGTTCCCCCCGCCGCCCAGCACCTCTGGC CAGGTGGGGTTATGATGGCCCACCAGGACCTCCTGCCAGCTGGGGTTATG ATGGCCCCACAGCACCTCTGTCGAGGTAGGATTATGATACCCCCCAGCAC CTCTGGCCAGGTGGGGTTATAATACCCCCCCACAGCACCTCTGGCCAGGT GAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTGTGGTTATGAAGTC CTCCTGGCACCTCTGGCCAGGTGTGGTTATGAAGTCCCCCCAGCACCTCT GGCCAGGTGGGGTTATGAAATCTCCCCCAGCACCTATGGCCAGCTGTGGT TATGAAATCCCCCCCAGCACCTCT	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1977		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870706	C C	CACCACAC others(401): Show CACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCACA CACACATCACATACCCCACACACCACACACCCCACACACACCACACACCC CCCACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACACACCACACACACCACACACCCCCCACACACCAC ACCCCACACACACCACACACCCCACACACACATCACATACCCCACACACC ACACACCCCACACACACCACACACCCCCCACACACCACACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACACCCCACA CACACCACACAAACCACACACCCTACACACCCCACACACACCACACACAC ACATCACAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	338	0.0030	408	c.35 others(427): Show c.35+21973_*35+21974insACCACACACCCCCCACACACCACACC CCACACACACCACACACCCCACACACACATCACATACCCCACACACCACA CACCCCACACACACCACACACCCCCCACACACCACACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACACACCACACAC ACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCACAC ACACATCACATACCCCACACACCACACACCCCACACACACCACACACCCC CCACACACCACACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACACCCCACACACACCACACAAACCACACACCCTACA CACCCCACACACACCACACACACACATCACAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UCN3_chr10_5359966_5379692	5370525	G G	GCGTGTGT others(401): Show GCGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGT GTGTATGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTATATGCGT GTGTATATGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGT GTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATGT GTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATATGTGTGT GTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATATGT GTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTGT ATGTGTGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATGC GTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0386 a0001c0002t0005g0386	1	468	0.0021	408	c.-6- others(423): Show c.-6-3190_-6-3189insCGTGTGTATATGTGTGTGTGTATGTGTGTG TGTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTG TATGTGTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTGTG TATATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTG TATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGTA TGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTG TGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTATATG TGTGTGTATGTGTGTGTGTATGTGTGTGTGTGTATGCGTGTGTATGCGTG TGTGTATGTGTGTGTATGCGTGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
USP6_chr17_5111032_5179991	5116259	G G	GCCACTCC others(401): Show GCCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGCCCCG CTCCCGGCGGCCCGCCTCACCACTCCCGGCCCCGCTCCCGGCGGCCCCCC TCACCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGCCC CGCTCCCGGCGGCCCGCCTCACCACTCCCGGCCCCGCTCCCGGCGGCCCC CCTCACCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGC CCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGCCCCGCTCCGGGCGGCC CCCCTCACCACTCCCGGCCCCGCTCCCGGCGGCCCGCCTCACCACTCCCG GCCCCGCTCCCGGCGGCCCCCCTCACCACTCCCGGCCCCGCTCCGGGCGG CCCCCCTCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01099.hp1 others(5): Show HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01169.hp1 HG01516.hp2 HG01981.hp1 HG03942.hp2 NA20805.hp1	a0002 a0023 a0002 a0023	a0002c0002 a0023c0033 a0002c0002 a0023c0033	a0002c0002t0010 a0002c0002t0026 a0023c0033t0010 a0002c0002t0010 a0002c0002t0026 a0023c0033t0010	a0002c0002t0010g0178 a0002c0002t0010g0180 a0002c0002t0010g0187 others(5): Show a0002c0002t0010g0178 a0002c0002t0010g0180 a0002c0002t0010g0187 a0002c0002t0010g0219 a0002c0002t0010g0220 a0002c0002t0010g0221 a0002c0002t0026g0226 a0023c0033t0010g0179	8	362	0.0221	408	c.-23 others(419): Show c.-2330_-2329insCCCGCTCCCGGCGGCCCCCCTCACCACTCCCGGC CCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGCCCCGCTCCCGGCGGCC CGCCTCACCACTCCCGGCCCCGCTCCCGGCGGCCCCCCTCACCACTCCCG GCCCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGCCCCGCTCCGGGCGG CCCCCCTCACCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCACCACTCC CGGCCCCGCTCCCGGCGGCCCGCCTCACCACTCCCGGCCCCGCTCCCGGC GGCCCCCCTCACCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCACCACT CCCGGCCCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGCCCCGCTCCCG GCGGCCCGCCTCACCACTCCCGGC	USP6	ENSG00000129204.17	transcript	ENST00000574788.6	protein_coding	1/38	14029	INFO_REALIGN_3_PRIME	chr17	TogoVar
VCX_chrX_7838171_7849143	7844242	G G	GGGGAGGG others(401): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18948.hp1 NA18971.hp1 others(3): Show NA18942.hp2 NA18948.hp1 NA18971.hp1 NA18973.hp2 NA18998.hp2 NA19079.hp1	a0001 a0063 a0064 a0001 a0063 a0064	a0001c0001 a0063c0077 a0064c0079 a0001c0001 a0063c0077 a0064c0079	a0001c0001t0001 a0063c0077t0001 a0064c0079t0001 a0001c0001t0001 a0063c0077t0001 a0064c0079t0001	a0001c0001t0001g0001 a0063c0077t0001g0004 a0064c0079t0001g0004 a0001c0001t0001g0001 a0063c0077t0001g0004 a0064c0079t0001g0004	6	341	0.0176	408	c.22 others(417): Show c.226_*227insGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		100		chrX	TogoVar
VPS50_chr7_93227366_93366123	93347520	T T	TGTTTGTT others(401): Show TGTTTGTTTTTTGGAGACAAGATCGTGCTCCGTCACTCAGGCTGGAGTGC AATGGCATGATCACAGCTCACTGCAGTCTTGACCTCCCAGGTTCAAGCGA TCCATTCACCTTAGCCCCCTGAGTAGCTGAGTCTACAGTCACCTGCCACC ACACCCAGCTAATTTTTTTTTTTTTTTTTGAGATGGCATTTCCCTCTTGT CATCCAGGCTGGGGTGCAATGGTGTGATCTTGGCTCACTGCAACCTCTGC CTCCCGAGTTCAAGCGATTCTCCTGCCTCGAACTCCTGAGCAACACGCCC AGCTAATATTTAAAAATTTGTAGAGATAAGGGTCTCAGCTTGTTGCCCAG GATGGTCTTGAACTCCTAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCTA AAGTGCTGG	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0097 a0001c0002t0007g0097	1	316	0.0032	408	c.220 others(427): Show c.2208-1190_2208-1189insTTTGTTTTTTGGAGACAAGATCGTGC TCCGTCACTCAGGCTGGAGTGCAATGGCATGATCACAGCTCACTGCAGTC TTGACCTCCCAGGTTCAAGCGATCCATTCACCTTAGCCCCCTGAGTAGCT GAGTCTACAGTCACCTGCCACCACACCCAGCTAATTTTTTTTTTTTTTTT TGAGATGGCATTTCCCTCTTGTCATCCAGGCTGGGGTGCAATGGTGTGAT CTTGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCGATTCTCCTGCCT CGAACTCCTGAGCAACACGCCCAGCTAATATTTAAAAATTTGTAGAGATA AGGGTCTCAGCTTGTTGCCCAGGATGGTCTTGAACTCCTAGGCTCAAGCC ATCCTCCTGCCTCAGCCTCCTAAAGTGCTGGG	VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
WDR7_chr18_56646359_57034792	57024555	G G	GCTATGAT others(401): Show GCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCA CATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTAT GTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATA TGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCT CAGGCAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAAT TTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGACTATGATAG TTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0078 a0001c0002t0004g0078	1	144	0.0069	408	c.427 others(427): Show c.4270-2401_4270-2400insACAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAAT AGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCC CTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTT ATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGACT ATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAG GAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTC CCTTATAGAATTTCACATATCCCTATTCTCAG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF232_chr17_5100736_5116878	5116259	G G	GCCACTCC others(401): Show GCCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGCCCCG CTCCCGGCGGCCCGCCTCACCACTCCCGGCCCCGCTCCCGGCGGCCCCCC TCACCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGCCC CGCTCCCGGCGGCCCGCCTCACCACTCCCGGCCCCGCTCCCGGCGGCCCC CCTCACCACTCCCGGCCCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGC CCCGCTCCGGGCGGCCCCCCTCACCACTCCCGGCCCCGCTCCGGGCGGCC CCCCTCACCACTCCCGGCCCCGCTCCCGGCGGCCCGCCTCACCACTCCCG GCCCCGCTCCCGGCGGCCCCCCTCACCACTCCCGGCCCCGCTCCGGGCGG CCCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01106.hp1 others(8): Show HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01516.hp2 HG01981.hp2 HG02698.hp1 HG03942.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0087 a0001c0001t0001g0002 a0001c0001t0001g0087	11	430	0.0256	408	c.-44 others(419): Show c.-4438_-4437insTGAGGGGGGCCGCCCGGAGCGGGGCCGGGAGTGG TGAGGGGGGCCGCCGGGAGCGGGGCCGGGAGTGGTGAGGCGGGCCGCCGG GAGCGGGGCCGGGAGTGGTGAGGGGGGCCGCCCGGAGCGGGGCCGGGAGT GGTGAGGGGGGCCGCCCGGAGCGGGGCCGGGAGTGGTGAGGGGGGCCGCC CGGAGCGGGGCCGGGAGTGGTGAGGGGGGCCGCCGGGAGCGGGGCCGGGA GTGGTGAGGCGGGCCGCCGGGAGCGGGGCCGGGAGTGGTGAGGGGGGCCG CCCGGAGCGGGGCCGGGAGTGGTGAGGGGGGCCGCCGGGAGCGGGGCCGG GAGTGGTGAGGCGGGCCGCCGGGAGCGGGGCCGGGAGTGGTGAGGGGGGC CGCCCGGAGCGGGGCCGGGAGTGG	ZNF232	ENSG00000167840.14	transcript	ENST00000250076.8	protein_coding		4382		chr17	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(401): Show TTCTATATATATAAATATATATATATTTATATATATATAAATATATATAT TTATATATATAGAAATATATATATTTATATATATATTTCTATATATATAA ATATATATATTTATATATATATAAATATATATATATTTCTATATATATAT AAATATATATATATTTATATATATATAAATATATATAAATATATATATAT TTATATATATAAATATATATTTATATATATAAATATATATTTATATATAT AAATAAATATATATTTATATATATATAAATATATATATTTTTATATATAT AAATATATATATTTTTATATATAAAAATATATATATTTATATATATATAA ATATATATATATTTATATATATATAAATATATATATATTTATATATATAT AAATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	400	0.0025	408	c.532 others(423): Show c.532+446_532+447insTATATATTTATATATATATAAATATATATA TATTTATATATATATAAATATATATATATTTATATATATATAAATATATA TATTTTTATATATAAAAATATATATATTTATATATATAAAAATATATATA TTTATATATATATAAATATATATTTATTTATATATATAAATATATATTTA TATATATAAATATATATTTATATATATAAATATATATATATTTATATATA TTTATATATATATAAATATATATATATTTATATATATATAGAAATATATA TATATTTATATATATATAAATATATATATTTATATATATAGAAATATATA TATAAATATATATATTTCTATATATATAAATATATATATTTATATATATA TAAATATATATATATTTATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABR_chr17_998519_1184981	1173152	C C	CCAACACA others(402): Show CCAACACATCACCTCAGTCAACGCAACACATCACCTCAGTCCACTCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCA GTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGT CCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCC AACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCC CCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	337	0.0030	409	c.61+ others(424): Show c.61+6514_61+6515insTGGACTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGT GATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTG TTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGG GGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGG GTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGA TGTGTTGCGTTGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACOT11_chr1_54543228_54615329	54561916	C C	CCCCCCCC others(402): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGTGAGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCAGG GGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0012 a0001c0006t0010g0012	1	388	0.0026	409	c.33+ others(426): Show c.33+13581_33+13582insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561916	C C	CGCCCCCC others(402): Show CGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAG GGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0030 a0005c0005t0003g0030	1	388	0.0026	409	c.33+ others(426): Show c.33+13574_33+13575insGCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCG	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15			chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(402): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGAC GGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGG GGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0080 a0002c0002t0003g0080	1	388	0.0026	409	c.33+ others(426): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(402): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0382 a0001c0001t0003g0382	1	388	0.0026	409	c.33+ others(426): Show c.33+13582_33+13583insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC TCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(402): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01952.hp2 HG02015.hp2 others(18): Show HG00673.hp1 HG01952.hp2 HG02015.hp2 HG02027.hp1 HG02148.hp2 HG02165.hp2 NA18939.hp2 NA18940.hp2 NA18953.hp2 NA18954.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18985.hp2 NA18993.hp2 NA18998.hp1 NA19005.hp2 NA19056.hp1 NA19062.hp2 NA19070.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0007 a0003c0003 others(1): Show a0001c0001 a0001c0007 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0013 a0001c0007t0002 others(2): Show a0001c0001t0002 a0001c0001t0013 a0001c0007t0002 a0003c0003t0005 a0004c0004t0004	a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0013g0367 others(18): Show a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0013g0367 a0001c0007t0002g0234 a0001c0007t0002g0351 a0003c0003t0005g0363 a0004c0004t0004g0149 a0004c0004t0004g0150 a0004c0004t0004g0224 a0004c0004t0004g0304 a0004c0004t0004g0305 a0004c0004t0004g0345 a0004c0004t0004g0352 a0004c0004t0004g0353 a0004c0004t0004g0354 a0004c0004t0004g0355 a0004c0004t0004g0356 a0004c0004t0004g0357 a0004c0004t0004g0358 a0004c0004t0004g0364 a0004c0004t0004g0380	21	388	0.0541	409	c.33+ others(426): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(402): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	388	0.0026	409	c.33+ others(426): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(402): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	409	c.-10 others(420): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATATATA AATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(402): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02027.hp1 HG02040.hp2 others(6): Show HG00408.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp1 NA18952.hp2 NA18984.hp2 NA19012.hp1 NA19077.hp1 NA19088.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0009c0007t0001 a0001c0001t0001 a0009c0007t0001	a0001c0001t0001g0001 a0009c0007t0001g0039 a0001c0001t0001g0001 a0009c0007t0001g0039	9	418	0.0215	409	c.-10 others(420): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATATATA AATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(402): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA18986.hp1 HG02056.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0001 a0001c0001t0001g0024	2	418	0.0048	409	c.-10 others(420): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATGATATATA AATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(402): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18993.hp1 HG02523.hp2 NA18993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0056 a0002c0001t0062 a0002c0001t0056 a0002c0001t0062	a0002c0001t0056g0074 a0002c0001t0062g0141 a0002c0001t0056g0074 a0002c0001t0062g0141	2	228	0.0088	409	c.259 others(430): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCAC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(402): Show AGGGGAAGAGGGAGGAGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGG AGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGG AGGGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGAGGGGGAGGAGGGAAGGGGAGGGGAGGAGGGGAAGGGGAGGG GGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGA GGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0220 a0001c0001t0035g0220	1	352	0.0028	409	c.51 others(420): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCTC CCCTTCCCTCCTCCCCCTCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCCT CCTCCCCCTCCCCTCCTCCCCTCCCTCCTCCTTCCCTCCTCCCCCTCCCC TCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCTCCTCCCTCCTCCC CCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTC CTCCCTCCTCCCCCTCCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCT CCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCT CCCCCCTCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(402): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGA GGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG AGGGGGAGGAGGAGGGGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0165 a0001c0001t0042g0165	1	301	0.0033	409	c.125 others(430): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCT CCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCT CCTCCTCCCCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCC TCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCC TCCTCCCCCCCTCCTCCCCCCCTCCTCCCCTTCTCCTCCTCCTCCCCCTC CTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTT CTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCC CTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(402): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGA GGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGG AGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp1 HG02258.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0055 a0001c0001t0003g0057	2	301	0.0066	409	c.125 others(430): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCT CCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCT CCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC TCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCC TCCTCCCCCCCTCCTCCCCCCCTCCTCCCCTTCTCCTCCTCCTCCCCCTC CTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTT CTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCC CTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANO1_chr11_70073317_70194530	70121879	G G	GTCTCTCT others(402): Show GTCTCTCTCCACCTCCCCACCTCTCTCTGTCTGTCTGTCTCTGTCTCTCC ATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCGCCTCTCTCTGTC TCTCTGTCTCTGTCTCTCCATCTGCCTCTGTCTCTCTCTCTCTCCGTCTC CCCCACCTCTCTCTGTCTGTCTCTCTATCTCTGTCTCTCCATCTGCCTCT GTCTCTGTCTCCATCTCCCCCACCTCTCTGTCTGTCTCTCTATCTCTGTC TCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCGCCTCTCT CTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTGTCTCTCTCTCTCTCC GTCTCCCCCACCTCTCTCTGTCTGTCTCTCTATCTCTGTCTCTCCATCTG CCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp1 HG03453.hp2 NA18906.hp1	a0001 a0009 a0001 a0009	a0001c0004 a0009c0027 a0001c0004 a0009c0027	a0001c0004t0001 a0009c0027t0001 a0001c0004t0001 a0009c0027t0001	a0001c0004t0001g0294 a0009c0027t0001g0114 a0001c0004t0001g0294 a0009c0027t0001g0114	2	302	0.0066	409	c.898 others(426): Show c.898-2465_898-2464insTCCACCTCCCCACCTCTCTCTGTCTGTC TGTCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCC CCGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTGTCTCT CTCTCTCTCCGTCTCCCCCACCTCTCTCTGTCTGTCTCTCTATCTCTGTC TCTCCATCTGCCTCTGTCTCTGTCTCCATCTCCCCCACCTCTCTGTCTGT CTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCAT CTCCCCCGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTG TCTCTCTCTCTCTCCGTCTCCCCCACCTCTCTCTGTCTGTCTCTCTATCT CTGTCTCTCCATCTGCCTCTGTCTCTCTCTC	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATF1_chr12_50759101_50826162	50823525	A A	ATATTATA others(402): Show ATATTATATATATAATCTATATTATATATATAATCTATATTATATATAAT ATAGATTATATATATAATCTATATTATATAATCTATATTATATATAATAT AGATTATATATATAATCTATATTATATAATCTATATTATATATAATATAG ATTATATATATAATCTATATTATATAATCTATATTATATATAATATAGAT TATATATATAATCTATATTATATAATCTATATTATATATAATATAGATTA TATATATAATCTATATTATATAATCTATATTATATATAATATAGATTATA TATATAATCTATATTATATAATCTATATTATATATAATATAGATTATATA TATAATCTATATTATATAATCTATATTATATATAATATAGATTATATATA TAATCTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0329 a0001c0002t0001g0329	1	382	0.0026	409	c.37 others(420): Show c.3746_*3747insTATTATATATATAATCTATATTATATATATAATC TATATTATATATAATATAGATTATATATATAATCTATATTATATAATCTA TATTATATATAATATAGATTATATATATAATCTATATTATATAATCTATA TTATATATAATATAGATTATATATATAATCTATATTATATAATCTATATT ATATATAATATAGATTATATATATAATCTATATTATATAATCTATATTAT ATATAATATAGATTATATATATAATCTATATTATATAATCTATATTATAT ATAATATAGATTATATATATAATCTATATTATATAATCTATATTATATAT AATATAGATTATATATATAATCTATATTATATAATCTATATTATATATAA TATAGATTATATATATAATCTATAT	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2364		chr12	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(402): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCC CTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02040.hp2 NA18962.hp1 HG00558.hp1 HG02040.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	391	0.0077	409	c.36 others(420): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTTCCT others(402): Show TCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCTTCCCCCCTTCCTTCC TGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCCCCC TTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCT TCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTC CCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCT GCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCC TTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCCCCTTCCCCCTT GCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCTTCCCCTTTTCC CCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0163 a0004c0005t0001g0163	1	420	0.0024	409	c.910 others(424): Show c.910-570_910-569insGCCCCCTTCCCCCTTGCCCCTTCCCCTTCC CCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCC TTCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCC TTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTT CCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTT CCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTG CCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCC CCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCC TTCCCCTTTTCCCCCCTTCCCCCCTTCCT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BRF1_chr14_105204286_105306001	105230888	C C	CGTGGCAC others(402): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGGACAGCC TGGCAGCCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	72	0.0139	409	c.695 others(426): Show c.695-1976_695-1975insAGGGCTGCCAGGCTGTCCCCCCGCCCCC AGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCT AGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCC CCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGC CCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGA TGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCC GCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGA GATGCTAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
C2CD4C_chr19_400445_414147	410796	C C	CCGGATCC others(402): Show CCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGAACGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACTGC CCCTGCTGGGCCCGGATCCTTGGGGGTCTGTCCACTGCCCCTGCTGGGCA CGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCC CCTGCTGGGCCCGGATCCTTGGGGGTCTGTCCACTGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCT CTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0110 a0001c0001t0137g0110	1	322	0.0031	409	c.-18 others(420): Show c.-1832_-1831insTGCCCAGCAGAGACGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG TGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCAGTGGACAG ACCCCCAAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCAGTGGACAGA CCCCCAAGGATCCGGGCCCAGCAGGGGCAGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTTCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1650		chr19	TogoVar
C7orf50_chr7_992006_1143247	1031620	G G	GGCAGAGA others(402): Show GGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGC AGGGAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAG TGGTCGGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGCG GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCA GGGAGGGCAGAGTGGTCGGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGT GGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGC AGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCAGG GAGGGCAGAGTGGTCGGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGG TCCGGGGGAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0296 a0006c0006t0005g0296	1	326	0.0031	409	c.130 others(428): Show c.130-21478_130-21477insGTCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTGCCCCCCCCGACCACTCTGCCCTCCCTGCAGGTCTCTGGT CCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACT CTGCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCCCCCCCCGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGCCCCCGGACCACTC TGCCCTCCCTGCAGGTCTCTGCCCCCCCCGACCACTCTGCCCTCCCTGCA GGTCTCTGGTCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCC CCGGACCACTCTGCCCTCCCTGCAGGTCTCTGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1185836	G G	GGGGTGTG others(402): Show GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGG GGCCGAAGGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	338	0.0030	409	c.300 others(426): Show c.300-9133_300-9132insTGTGTACGGGGCGGGTGAGTAGACGGTC AGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCATAGGGGCCGAAGGCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGTCGGCA others(402): Show GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAG TAGACGGCAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	338	0.0030	409	c.300 others(426): Show c.300-9106_300-9105insTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(402): Show CCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0306 a0001c0006t0002g0306	1	410	0.0024	409	c.-22 others(426): Show c.-22-1979_-22-1978insTCGTCTCCCCCACGTCGCCTCCCCCCAC GTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGTCGTCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(402): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCC CCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	256	0.0039	409	c.-45 others(430): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(402): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCC CCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0238 a0001c0001t0015g0238	1	256	0.0039	409	c.-45 others(430): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(402): Show ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	388	0.0026	409	c.487 others(426): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CEP170B_chr14_104860268_104901747	104884897	G G	GGGGGGGT others(402): Show GGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGG AACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGG GAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGG GGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTG GGGAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCACTCGT GGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCACTCG TGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTC GTGGGGAATC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0256 a0001c0005t0003g0256	1	328	0.0031	409	c.177 others(426): Show c.1770+353_1770+354insGTGGAGGTGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAACGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGT GAGAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAG TGAGAGCCCTCGTGGGGAATCGGGGGTGGAGGCGATGCCGGGGGTGGCGA GTGAGAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCG AGTGAGAGCCCTCGTGGGGAATCGGGGGTGGAGGCGATGCCGGGGGTGGC GAGTGAGAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGG CGAGTGAGAGCACTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTG GCGAGTGAGAGCCCTCGTGGGGAATCGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CNOT3_chr19_54132762_54160681	54133855	T T	TCTCCCTC others(402): Show TCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCA CCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCCTCCCTCCCTCTCTCC ACCTTCCCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCTTCC CTCTCTCCACCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCTCCCCTCT CCCTCCCTCTCTCTCCTCCCCTCTCCCTCCCTCCACCTCCCCTCCCTCTC TCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	223	0.0045	409	c.-41 others(420): Show c.-4189_-4188insCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACC TCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTC CCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCA CCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTCCC TCCCTCCCTCTCTCCACCTTCCCTCTCTCCTCCCCTCTCCCCCTCCCTCC CTCTCTCCACCTTCCCTCTCTCCACCTCCCCTCTCCCCCTCCCTCCCTCT CTCCACCTCCCCTCTCCCTCCCTCTCTCTCCTCCCCTCTCCCTCCCTCCA CCTCCCCTCCCTCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3906		chr19	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(402): Show CCCCCGCCCACCCATCCGTCCACCCATCCGTCCATCCATCCCCCCACCCA CCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATC TGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCC CCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATC CCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCA TCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATC TGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCG TCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACC CATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	348	0.0029	409	c.13 others(420): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCGTCCAT CCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCC GTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCAT CCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCC ATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCAC CCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCC CCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCAT CCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTC ACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
DIP2C_chr10_269201_694668	478146	G G	GGGGAGAA others(402): Show GGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGA GAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGA GGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAG GGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAG GGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAG GGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAA GGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAG GGGAGAAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	88	0.0114	409	c.158 others(426): Show c.158-5598_158-5597insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTC CCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTC TTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTC CCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCTCTCCCCTCCCTTCT TCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCC CCTCCCTTCTTCTCCCCTCCCTTCTTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1164222	G G	GGTTTGTG others(402): Show GGTTTGTGGGGATTTTTCTGTGAACCCCCCAGGGCCCGTCATTTTGGTTT GTGGGGACAGATTTTTCTGTGAGTCCCCCCAGGGCCCCTCGTTTTGGTTT GTGGGGACTGATTGTGAGCCCCCCAGGGTTTGTTTTGGTTTGTGCGGATA GATTTTTCTGTGAGCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGATTTT TCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTG AACCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGA ACCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCCCC CCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTGTGAGCCCCCCAGG GTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	40	0.0250	409	c.74- others(426): Show c.74-94618_74-94617insTTTTTCTGTGAACCCCCCAGGGCCCGTC ATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCCCAGGGCCCCTC GTTTTGGTTTGTGGGGACTGATTGTGAGCCCCCCAGGGTTTGTTTTGGTT TGTGCGGATAGATTTTTCTGTGAGCCCCCAGGGCCTGTCGTTTTGGTTTG TGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGA TTTTTCTGTGAACCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGAT TTTTCTGTGAACCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTC TGTGAGCCCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTGTGA GCCCCCCAGGGTTTGTTTTTGTTTGTGGGGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC13_chr3_132412502_132544032	132470622	C C	CCCCCCCA others(402): Show CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCTGGGCCGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG GGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0306 a0001c0003t0003g0306	1	318	0.0031	409	c.220 others(428): Show c.2209-2518_2209-2517insCACCTCCCTCCCGGACGGGGTGGCTG GCTGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACACCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACACCCCC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC13_chr3_132412502_132544032	132470622	C C	CCCCCCCA others(402): Show CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCTGGGCCGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0239 a0001c0003t0003g0239	1	318	0.0031	409	c.220 others(428): Show c.2209-2518_2209-2517insCACCTCCCTCCCGGACGGGGTGGCTG GCTGGGCCGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACACCCCC	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)