Joint Open Genome and Omics Platform (JoGo)

Search 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
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAC others(229): Show GTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTATGTATGTGTATATATGTATACATGTATATATGTATACATAC ACGCGCGTGTATATATGTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	388	0.0026	236	c.-23 others(253): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACATGTATACATATATACACATACA TACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAC others(229): Show GTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTATGTATGTGTATATAT GTATACATGTATATATGTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG01192.hp1 others(3): Show HG01074.hp1 HG01175.hp2 HG01192.hp1 HG01981.hp1 NA18999.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0159 a0001c0001t0002g0160 others(2): Show a0001c0001t0002g0023 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162	6	388	0.0155	236	c.-23 others(253): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CATGTATACATATATACACATACATACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(229): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTATGTATGTGTATATATGTATACATGTA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	388	0.0026	236	c.-23 others(253): Show c.-23+2480_-23+2481insTACATGTATACATATATACACATACATA CATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATA CACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTAGATACACGTATATATACATATATACATG TATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507572	T T	TATACATG others(229): Show TATACATGTATATATGTATATATACGTGTATCTACATGTGTACACATGTA TATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATG TATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACA TGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTACA CATGTATATACGTATACATGTGTACACATGTATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02738.hp2 HG03492.hp1 HG02109.hp1 HG02738.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0003g0084 a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0003g0084	3	388	0.0077	236	c.-23 others(253): Show c.-23+2475_-23+2476insGTATATACATGTGTACACATGTATACGT ATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATAC GTATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTAT ACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATGT ATACGTATATACATGTGTACACATGTAGATACACGTATATATACATATAT ACATGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097473	A A	ACATATAC others(229): Show ACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATAT ACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGC GTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGT ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	334	0.0030	236	c.-46 others(247): Show c.-4693_-4692insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCG TGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATA TG	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4667		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CATATACA others(229): Show CATATACACGCGCGCGTATATACACATACACGCGCGCGTATATACACATA CACGCGCGCGTGTATATACACATACACGCGCGCGTGTATATACACATACA CGCGCGCGTGTATATACACATACACGCGCGCGTGTATATACACATACACG CGCGCGTGTATATACACATACACGCGCGCGTGTATATACACATACACGCG TGCGTATACACATATATACACGCGTGCGTATACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0141 a0001c0004t0002g0141	1	334	0.0030	236	c.-48 others(247): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATATGTGTATAC GCACGCGTGTATGTGTATATACACGCGCGCGTGTATGTGTATATACACGC GCGCGTGTATGTGTATATACACGCGCGCGTGTATGTGTATATACACGCGC GCGTGTATGTGTATATACACGCGCGCGTGTATGTGTATATACACGCGCGC GTGTATGTGTATATACGCGCGCGTGTATGTGTATATACGCGCGCGTGTAT AT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4846		chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142390771	A A	ACAGACGC others(229): Show ACAGACGCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCT GGGGACTCTGTAACAGACGCTGTACACTGCGGGGGACTCTGTAACAGACG CTGTACACTGCGGGGGACTCTGTAACAGACGCTGTACACTGCGGGGGACT CCGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCGGGGGACT CCGTAGCAGACGCTGTACACTGCTGGGGACTCCGTAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0122 a0003c0003t0002g0122	1	238	0.0042	236	c.-40 others(255): Show c.-40+12332_-40+12333insCTACGGAGTCCCCAGCAGTGTACAGC GTCTGCTACGGAGTCCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCA GCAGTGTACGGAGTCCCCCGCAGTGTACAGCGTCTGTTACAGAGTCCCCC GCAGTGTACAGCGTCTGTTACAGAGTCCCCCGCAGTGTACAGCGTCTGTT ACAGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAGTGT ACAGCGTCTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TSPAN9_chr12_3072379_3291559	3198599	A A	ACCACCAG others(229): Show ACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCTCAC CACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGTCACAC CAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCAGCA CAGGCCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAGCACAG GCCACCACCAGCACAGGTCACCACCAGCACAGGCCAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	288	0.0035	236	c.-17 others(253): Show c.-17-2577_-17-2576insCACCAGCACAGGCCACCACCAGCACAGC TCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGTC ACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCACC ACCAGCACAGGTCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGC ACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCAC AGGCCACC	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTN_chr2_178739405_178812423	178757146	A A	ATGCTTTA others(229): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGC TTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATA CTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	370	0.0027	236	c.103 others(257): Show c.10303+1837_10303+1838insAGTACAGTATTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACT TACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTA CAGTATTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAG CAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACT GTACTTAAAGCA	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TUBA8_chr22_18105809_18136732	18106957	A A	AGTCTGAA others(229): Show AGTCTGAAGTCTGAGACCCAGGAGAGCTGAAGATGTGGTTCCAGTCTGAG TCTGAAGCCTGAGACCCAGCAGAGCTGAAGACATGGTTCCAGTCTGAGTC TGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTCAGTCTGTCTGAA GCCTGAGACCCGGGAGAGCTGAAGACGTAGTTCCAGTCTGAGTCTGAAGC CTGAGACCCAGGAGAGCTGAAGATGTGGTTTCAGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03579.hp1 HG02145.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0216 a0001c0001t0004g0203 a0001c0001t0002g0216 a0001c0001t0004g0203	2	426	0.0047	236	c.-39 others(247): Show c.-3909_-3908insGTCTGAAGTCTGAGACCCAGGAGAGCTGAAGATG TGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGCAGAGCTGAAGACATG GTTCCAGTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGT TTCAGTCTGTCTGAAGCCTGAGACCCGGGAGAGCTGAAGACGTAGTTCCA GTCTGAGTCTGAAGCCTGAGACCCAGGAGAGCTGAAGATGTGGTTTCAGT CT	TUBA8	ENSG00000183785.16	transcript	ENST00000330423.8	protein_coding		3851		chr22	TogoVar
UCN3_chr10_5359966_5379692	5369997	G G	GTATGTGT others(229): Show GTATGTGTGTGTATATGTGTGTGTGTATGTGTGTATATGCGTGTGTATAT GCGTGTGTATATGCGTGTGTATATGCGTGTATATGTGTGTGTATATGTGT GTGTGTGTATATGTGCGTGTATGTGTGCGTGTGTATATGTGCGTGTATGT GTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTGTGTAT GTGTGTGTATGTGTGTGTGTGTGTATGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0022 a0001c0002t0004g0022	2	468	0.0043	236	c.-6- others(251): Show c.-6-3717_-6-3716insATGTGTGTGTATATGTGTGTGTGTATGTGT GTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTAT ATGTGTGTGTATATGTGTGTGTGTGTATATGTGCGTGTATGTGTGCGTGT GTATATGTGCGTGTATGTGTGTGTGTATATGTGTGTGTATATGTGTGTGT ATATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTATGTGTGT GTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370005	G G	GTATATGT others(229): Show GTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTAT ATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATAT GCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTGTATATGT GTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTCTGT ATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG03490.hp2 HG03492.hp1 HG02300.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0091 a0001c0002t0008g0119 a0001c0002t0008g0120 a0001c0002t0003g0091 a0001c0002t0008g0119 a0001c0002t0008g0120	3	468	0.0064	236	c.-6- others(251): Show c.-6-3707_-6-3706insATGTGTGTGTATATGTGTGTGTATGTGTGT GTGTATGTGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGT ATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATAT GTGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGT GTGTATATGCGTCTGTATATGCGTGTGTATATGCGTGTGTATGTGTGTGT ATATAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370288	T T	TGTATATG others(229): Show TGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTGTATATGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGTG TGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTG TATGCGTGTGTATATGCGTGTGTGTATATGTGTGTGTATATGTGTGTGTA TATGTGTGTATATGTGTGTGTATATGCGTGTGTATGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0185 a0001c0002t0002g0185	1	468	0.0021	236	c.-6- others(251): Show c.-6-3425_-6-3424insATATGCGTGTGTATGCGTGTGTATGCGTGT GTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTAT GTGTGTGTGTATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGT GTGTGTATGCGTGTGTGTATGCGTGTGTATATGCGTGTGTGTATATGTGT GTGTATATGTGTGTGTATATGTGTGTATATGTGTGTGTATATGCGTGTGT ATGCGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370288	T T	TGTATATG others(229): Show TGTATATGCGTGTGTATGTGTGTGTATGCGTGTGTGTATATGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGTG TGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTG TATGCGTGTGTATATGCGTGTGTGTATATGTGTGTGTATATGTGTGTGTA TATGTGTGTATATGTGTGTGTATATGCGTGTGTATGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	468	0.0021	236	c.-6- others(251): Show c.-6-3425_-6-3424insATATGCGTGTGTATGTGTGTGTATGCGTGT GTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTAT GTGTGTGTGTATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGT GTGTGTATGCGTGTGTGTATGCGTGTGTATATGCGTGTGTGTATATGTGT GTGTATATGTGTGTGTATATGTGTGTATATGTGTGTGTATATGCGTGTGT ATGCGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(229): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	344	0.0029	236	c.218 others(253): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(229): Show CGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TGGGGCTCAGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0319 a0001c0003t0005g0319	1	344	0.0029	236	c.218 others(253): Show c.2182+158_2182+159insGGTTCGGCTTGGAGGCTGTGGGACGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTGGGGCTCAGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5A_chr5_176805559_176885898	176872414	C C	CCCACACC others(229): Show CCCACACCACAGCTTCCCATCTGCCCACACTCACCCCACACCACAGCCTC ACATCTGCCCACACTCGCCCCACACCACAGCTTCCCATCTGCCCACACTC GCCCCACACCACAGCTTCCCATCTGCCCACACTCACCAACACCACAGCTT CACATCTGCCCACACCTGCCCCAACACCACAGCTTCCCATCTGCCCACAC TCGCCCAACACCACAGCTTCACATCTGCCCACACTCA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	268	0.0037	236	c.887 others(253): Show c.887-1551_887-1550insCACCACAGCTTCCCATCTGCCCACACTC ACCCCACACCACAGCCTCACATCTGCCCACACTCGCCCCACACCACAGCT TCCCATCTGCCCACACTCGCCCCACACCACAGCTTCCCATCTGCCCACAC TCACCAACACCACAGCTTCACATCTGCCCACACCTGCCCCAACACCACAG CTTCCCATCTGCCCACACTCGCCCAACACCACAGCTTCACATCTGCCCAC ACTCACCA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(229): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATATATTATATATTATATTTATGTAATATATAATATATATTTATATA TTATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0029 a0002c0008t0001g0029	1	204	0.0049	236	c.213 others(255): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATATATTATATATTACATAAATATAATATA TAATATATATTATATATTACATAAATATAATATATAATATATATTATATA TTACATAAATATAATATATAATATATATTATATATTACATAAATATAATA TATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNG_chr12_109092597_109115992	109106907	A A	ATATATAT others(229): Show ATATATATATACACATATATATATACGTATATATATATATGTGTATATAT ATATATACGTATATATATATGTGTATATATATATACGTATATATATGTGT ATATATATATGTTTTTTTTTTGAGATAGATATATGTATATATATATATAC GTATATATATATGTGTATATATATATACGTATATATGTATATATATGTGT ATATATATGTATATATATGTGTATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19240.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0075 a0001c0001t0001g0076	2	452	0.0044	236	c.802 others(253): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATGTGTATATATATATATACGTATATATATATGTGTATATATATATACGT ATATATATGTGTATATATATATGTTTTTTTTTTGAGATAGATATATGTAT ATATATATATACGTATATATATATGTGTATATATATATACGTATATATGT ATATATATGTGTATATATATGTATATATATGTGTATATATATATATACGT ATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
VAV2_chr9_133756894_133997324	133827300	G G	GGCATCGC others(229): Show GGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGG CATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCA TCGCCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATC GCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGC CAGCTCGCTGTGCCCACTGAGGCTGACCACTGAGCAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0153 a0002c0001t0001g0153	1	200	0.0050	236	c.449 others(253): Show c.449+6971_449+6972insGTGCTCAGTGGTCAGCCTCAGTGGGCAC AGCGAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCG GTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGT AGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAG CTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGCT GGCGATGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCX3B_chrX_8459830_8471510	8466909	A A	AGGGAGGG others(229): Show AGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0000 a0000	a0000c0053 a0000c0053	a0000c0053t0015 a0000c0053t0015	a0000c0053t0015g0022 a0000c0053t0015g0022	1	271	0.0037	236	c.52 others(245): Show c.526_*527insGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		400		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466927	A A	AGGAGGTG others(229): Show AGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGGAGAGGA GGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0082 a0082	a0082c0034 a0082c0034	a0082c0034t0038 a0082c0034t0038	a0082c0034t0038g0060 a0082c0034t0038g0060	1	271	0.0037	236	c.54 others(245): Show c.544_*545insGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGA GGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		418		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467358	T T	TGTGTGGG others(229): Show TGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0007 a0017c0017t0007	a0017c0017t0007g0008 a0017c0017t0007g0008	1	271	0.0037	236	c.97 others(245): Show c.975_*976insGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		849		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(229): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	408	0.0025	236	c.53+ others(251): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(229): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03041.hp2 NA19089.hp1 HG02155.hp1 HG03041.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071	3	408	0.0074	236	c.53+ others(251): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(229): Show CCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	274	0.0037	236	c.200 others(253): Show c.2004+709_2004+710insTCCTCCTCCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCC TCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTC CTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VSTM2L_chr20_37898127_37950350	37914404	G G	GTGTGGGG others(229): Show GTGTGGGGGGAGTGTGTATATATATATGTGTGTGTATGTAAGTATATGTG TATGTGTGTTTATGTGTATGTGGGTGTATCTGTGTATGTGTGTATATATG TGTGTAGGGGTGTAGGTGTGTGTACGTGTGTGGGGGGAGTATTTGGGTGT GTATGTGTGTGTATGTGGTGTGTATATGTGGGGGGAGTGGGTGTGTGTGC GTATGTGTGCGTATGTGTATGTACGTGTGTGCATGTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	344	0.0029	236	c.121 others(255): Show c.121+10939_121+10940insGGGAGTGTGTATATATATATGTGTGT GTATGTAAGTATATGTGTATGTGTGTTTATGTGTATGTGGGTGTATCTGT GTATGTGTGTATATATGTGTGTAGGGGTGTAGGTGTGTGTACGTGTGTGG GGGGAGTATTTGGGTGTGTATGTGTGTGTATGTGGTGTGTATATGTGGGG GGAGTGGGTGTGTGTGCGTATGTGTGCGTATGTGTATGTACGTGTGTGCA TGTCTGTGGG	VSTM2L	ENSG00000132821.12	transcript	ENST00000373461.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
VSTM2L_chr20_37898127_37950350	37914404	G G	GTGTGGGG others(229): Show GTGTGGGGGGAGTGTGTGTATATATATGTGTGTGTATGTAAGTATATGTG TATGTGTGTTTATGTGTATGTGGGTGTATCTGTGTATGTGTGTATATATG TGTGTAGGGGTGTAGGTGTGTGTACGTGTGTGGGGGGAGTATTTGGGTGT GTATGTGTGTGTATGTGGTGTGTATATGTGGGGGGAGTGGGTGTGTGTGC GTATGTGTGCGTATGTGTATGTACGTGTGTGCATGTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	344	0.0029	236	c.121 others(255): Show c.121+10939_121+10940insGGGAGTGTGTGTATATATATGTGTGT GTATGTAAGTATATGTGTATGTGTGTTTATGTGTATGTGGGTGTATCTGT GTATGTGTGTATATATGTGTGTAGGGGTGTAGGTGTGTGTACGTGTGTGG GGGGAGTATTTGGGTGTGTATGTGTGTGTATGTGGTGTGTATATGTGGGG GGAGTGGGTGTGTGTGCGTATGTGTGCGTATGTGTATGTACGTGTGTGCA TGTCTGTGGG	VSTM2L	ENSG00000132821.12	transcript	ENST00000373461.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR87_chr19_37879823_37911594	37880989	A A	ATATATAT others(229): Show ATATATATATTATATATATATATAATATATATATATATTATATATATATA TAATATATATATATATTATATATATATATAATATATATATATATTATATA TATATATAATATATATATATATTATATATATATATTATATATATATTATA TATATATATTATATATATATAATATATATTATATATATATAATATATATA TAATATATATATATTATATATATATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	330	0.0030	236	c.39 others(247): Show c.3942_*3943insAATATATATATTATATATATATAATATATATATA TTATATATATATTATATATATATAATATATATTATATATATATAATATAT ATATATAATATATATATAATATATATATATAATATATATATATATTATAT ATATATATAATATATATATATATTATATATATATATAATATATATATATA TTATATATATATATAATATATATATATATTATATATATATATAATATATA TA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3833		chr19	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(229): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAA AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATATATTATATATATTTTATATATATAATAT ATAATATATATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	410	0.0024	236	c.125 others(251): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATTATATATATAAAATATATATAATATATATTATATATATA AAATATATATAATATATATTATATATATAAAATATATATAATATATATTA TATATATAAAATATATATAATATATATTATATATATAAAATATATATAAT ATATATTTTATATATAAAATATATATAATATATATTTTATATATAAAATA TATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF430_chr19_21015657_21065050	21019661	A A	AATATATA others(229): Show AATATATAAATATATATAAAAATATATATAAATATATAAATATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATATAAATATATATAAATA TATAAATATATATATAAATATATATAAATATAAATATATATATATAAATA TATATAAATATATAAATATATATAAATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA19083.hp2 NA18997.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0221 a0001c0001t0001g0222	2	298	0.0067	236	c.-11 others(247): Show c.-1140_-1139insATATATAAATATATATAAAAATATATATAAATAT ATAAATATATATATATAAATATATATAAATATATATAAATATATAAATAT ATATATATAAATATATATAAATATATATAAATATATAAATATATATATAT AAATATATATAAATATATAAATATATATATAAATATATATAAATATAAAT ATATATATATAAATATATATAAATATATAAATATATATAAATATAAATAT AT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		995		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319385	T T	TACATACA others(229): Show TACATACATACATATACATATACATACATATATATACATATATATACACA TACATACATATATATACATATATACACATACATACATATATACATATATA TACACATACATACATATATATACATATATATACACATACATACATATATA CATATATATACACATACATATATATACATATATATACACATACATACATA TATATACATATATATACACATACATACATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	460	0.0022	236	c.-14 others(247): Show c.-1469_-1468insACATACATACATATACATATACATACATATATAT ACATATATATACACATACATACATATATATACATATATACACATACATAC ATATATACATATATATACACATACATACATATATATACATATATATACAC ATACATACATATATACATATATATACACATACATATATATACATATATAT ACACATACATACATATATATACATATATATACACATACATACATATATAT AC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1086		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATGTA others(229): Show CATATGTACATATATATACATATACATACATATATACATATATATACATA TACATACATATATATACATATATATACATATACATACATATATATACATA TATATACATATACACATATATATACATATACATACATATATATACATATA TATACATATACATACATATATATACATATATATACATATACATACATATA TATACATATATATACATATACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0019 a0003c0008t0019	a0003c0008t0019g0150 a0003c0008t0019g0150	1	460	0.0022	236	c.-13 others(247): Show c.-1395_-1394insATATGTACATATATATACATATACATACATATAT ACATATATATACATATACATACATATATATACATATATATACATATACAT ACATATATATACATATATATACATATACACATATATATACATATACATAC ATATATATACATATATATACATATACATACATATATATACATATATATAC ATATACATACATATATATACATATATATACATATACATACATATATATAC AT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393208	T T	TTCTATAT others(229): Show TTCTATATATAGAAATATATATATATTTCTATATATATAAATATATATAT ATTTATATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATTTCTATTTATATATATATAT ATATTTATATATATAGAAATATATATATATTTATATATATATAAAATATA TATTTATATATATATAAAATATATATATATATAAATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	400	0.0025	236	c.532 others(251): Show c.532+440_532+441insTATTTATATATATATATATTTTATATATAT ATAAATATATATTTTATATATATATAAATATATATATATTTCTATATATA TAAATATATATATATATATAAATAGAAATATATATATATTTATATATATA GAAATATATATATATTTATATATATAGAAATATATATATATTTATATATA TATAAATATATATATATTTATATATATAGAAATATATATATATTTCTATA TATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393208	T T	TTCTATAT others(229): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT ATTTATATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATTTCTATTTATATATATATAT ATATTTATATATATAGAAATATATATATATTTATATATATATAAAATATA TATTTATATATATATAAAATATATATATATATAAATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	400	0.0025	236	c.532 others(251): Show c.532+440_532+441insTATTTATATATATATATATTTTATATATAT ATAAATATATATTTTATATATATATAAATATATATATATTTCTATATATA TAAATATATATATATATATAAATAGAAATATATATATATTTATATATATA GAAATATATATATATTTATATATATAGAAATATATATATATTTATATATA TATAAATATATATATATTTATATATATAGAAATATATATATATTTATATA TATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCA7_chr19_1035107_1070572	1049592	G G	GCCCCCCG others(230): Show GCCCCCCGACCGCTCCCTCCCTTTGAGCCCCCCCGGACCACTCCCTCCCT GTGAGTTCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCC TGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTC CCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCC CTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTGAGC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0005 a0009c0007t0002g0005	1	30	0.0333	237	c.255 others(254): Show c.2552+161_2552+162insGACCGCTCCCTCCCTTTGAGCCCCCCCG GACCACTCCCTCCCTGTGAGTTCCCCACCACTCCCTCCCTGTGAGCCCCC CCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCC CCCCACCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGCC CCCCCGGACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCCCCGTG AGCCCCCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(230): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATATACATATATATATTATATATATATAC ATATATATATTATATATATATACATATATATATTATATATATATACATAT ATATATTATATATATATACATATATATATTATATATATATACATATATAT ATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0190 a0001c0001t0058g0190	1	346	0.0029	237	c.497 others(254): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATATACATA TATATATTATATATATATACATATATATATTATATATATATACATATATA TATTATATATATATACATATATATATTATATATATATACATATATATATT ATATATATATACATATATATATTATATATATATACATATATATATTATAT ATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(230): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATATACATATATATATTATATATATATAC ATATATATATTATATATATATACATATATATATTATATATATATACATAT ATATATTATATATATATACGTATATATATTATATATATATACGTATATAT ATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	346	0.0029	237	c.497 others(254): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATATACATA TATATATTATATATATATACATATATATATTATATATATATACATATATA TATTATATATATATACATATATATATTATATATATATACGTATATATATT ATATATATATACGTATATATATTATATATATATACATATATATATTATAT ATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACSF3_chr16_89088852_89161233	89147208	A A	AGAGGAGG others(230): Show AGAGGAGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGAGGGGTCACAG AGTGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAGGGAGGAGGGA GGGGTCACAGAGTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGTGAG GGAGGAGGGAGGGGCCACAGTGTGAGTGAGGGAGGAGGGAGGGGTCACAG AGTGAGCAAGGGGGGGAGGGGCCACAGAGTGAGTGAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02886.hp1 others(1): Show HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 others(1): Show a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318	4	368	0.0109	237	c.161 others(256): Show c.1613+1274_1613+1275insTGAGGGAGGAGGGAGGGGTCACAGAG TGAGTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAGGGAGGAGGGAGG GGTCACAGAGTGAGCAAGGGGGGGAGGGGCCACAGAGTGAGTGAGGGAGG AGGGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGA GTGAGGGAGGAGGGAGGGGCCACAGTGTGAGTGAGGGAGGAGGGAGGGGT CACAGAGTGAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATATATGA others(230): Show ATATATGAAATATATATAATACATTATATATATGAAATATATATAATACA TTATATATATGAAATATATATAATACATTATATATATGAAATATATATAA TACATTATATATATGAAATATATATAATACATTATATATATGAAATATAT ATAATACATTATATATATGAAATATATATAATACATTATATATATGAAAT ATATATAATACATTATATATATGAAATATATAATACAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	204	0.0049	237	c.193 others(256): Show c.1934-4084_1934-4083insATGTATTATATATTTCATATATATAA TGTATTATATATATTTCATATATATAATGTATTATATATATTTCATATAT ATAATGTATTATATATATTTCATATATATAATGTATTATATATATTTCAT ATATATAATGTATTATATATATTTCATATATATAATGTATTATATATATT TCATATATATAATGTATTATATATATTTCATATATATAATGTATTATATA TATTTCATATA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230755	T T	TATATAAT others(230): Show TATATAATACATTATATATATGAAATATATATAATACATTATATATATGA AATATATATAATACATTATATATATGAAATATATATAATACATTATATAT ATGAAATATATATAATACATTATATATATGAAATATATATAATACATTAT ATATATGAAATATATATAATACATTATATATATGAAATATATATAATACA TGATATATGTGAAATATATAATACATGATATATGTGAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	204	0.0049	237	c.193 others(256): Show c.1934-4537_1934-4536insTTCACATATATCATGTATTATATATT TCACATATATCATGTATTATATATATTTCATATATATAATGTATTATATA TATTTCATATATATAATGTATTATATATATTTCATATATATAATGTATTA TATATATTTCATATATATAATGTATTATATATATTTCATATATATAATGT ATTATATATATTTCATATATATAATGTATTATATATATTTCATATATATA ATGTATTATAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1558606	T T	TGCATGCT others(230): Show TGCATGCTCCGTCTAAACTCGAATCCCACCTCTGCCCCCCTCCATGGGTG CTCAGCCCCCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCT CCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAATCCCACCTC TGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAA TCCCACCTCTGCCCCCCCTCCATGGGTGCTCAGCCCCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	106	0.0094	237	c.100 others(258): Show c.100+178444_100+178445insGGGGGCTGAGCACCCATGGAGGGG GGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCACC CATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGG CTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGC ATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTT AGACGGAGCATGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(230): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0024 a0003c0003t0002g0024	1	218	0.0046	237	c.32- others(250): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AHRR_chr5_316714_443285	392071	C C	CGCAGGGC others(230): Show CGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGAC GCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACG CAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGC AGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCA GGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0028 a0003c0004t0028	a0003c0004t0028g0217 a0003c0004t0028g0217	1	268	0.0037	237	c.351 others(256): Show c.351+15355_351+15356insGCAGGGCGATGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAG GGCCAGAGCGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
AMFR_chr16_56356452_56430545	56406059	G G	GGGGGGAG others(230): Show GGGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGA GGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGA GAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGGGGAGAGGG GGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGAGAGGGGGGAG GGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0333 a0001c0001t0013g0333	1	356	0.0028	237	c.667 others(252): Show c.667-816_667-815insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCT CTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANO9_chr11_412938_447011	413968	G G	GTCTGCCT others(230): Show GTCTGCCTACCTTCCCCTGCACCCTCTCCCCTCCCCACCTTTCCCTGCAC CCTCTCCCCTGCACACCTTCCCCTGCACCCTCTCCTCTGCCTACCTTCCC CTGCACCCTCTCCCCTCCCCACCTTTCCCTGCACCCTCTCCCCTGCACAC CTTCCCCTGCACTCTCTCCTCTGCCTACCTTCCCCTGCACCCTCTCCCTC CCCACCTTTCCCTGCACACCTTCCCCTGCACCCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	286	0.0035	237	c.44 others(248): Show c.4402_*4403insGGAGAGGGTGCAGGGGAAGGTGTGCAGGGAAAGG TGGGGAGGGAGAGGGTGCAGGGGAAGGTAGGCAGAGGAGAGAGTGCAGGG GAAGGTGTGCAGGGGAGAGGGTGCAGGGAAAGGTGGGGAGGGGAGAGGGT GCAGGGGAAGGTAGGCAGAGGAGAGGGTGCAGGGGAAGGTGTGCAGGGGA GAGGGTGCAGGGAAAGGTGGGGAGGGGAGAGGGTGCAGGGGAAGGTAGGC AGA	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding		3969		chr11	TogoVar
AP3D1_chr19_2095988_2156566	2128475	C C	CGCTCCGA others(230): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	406	0.0025	237	c.806 others(252): Show c.806+614_806+615insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTG TCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128857	G G	GGCCCGCC others(230): Show GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCA CAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCAGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	406	0.0025	237	c.806 others(252): Show c.806+232_806+233insTGGCTCCACGGGGTGCAGTGTCGGAGCGGC GGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGC TGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGG GGCGGGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128950	C C	CGCTCCGA others(230): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0200 a0001c0003t0002g0200	1	406	0.0025	237	c.806 others(252): Show c.806+139_806+140insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTG TCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128990	C C	CGCTCCGA others(230): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCG TGGAGCTGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCTGGCCCGCCCCACAG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0034 a0001c0003t0002g0034	1	406	0.0025	237	c.806 others(251): Show c.806+99_806+100insTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGGGCGGGCCAGCTCCACGGGGTGCAGTGTCGGAGCGGC GGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCC AGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar