Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(195): Show ATATATATATATATATATATATTTCTATATATATATATATATATATTTCT ATATATATATATATATATATTTCTATATATATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATATATTTCTATATATATATATAT TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	370	0.0027	202	c.56 others(213): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATTTCTATATATATATATATATATATTTCTATATATATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATATATTTC TATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(195): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18980.hp2 HG00738.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0308 a0001c0001t0001g0239 a0001c0001t0001g0308	2	360	0.0056	202	c.28- others(217): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CTNS_chr17_3631760_3668103	3656383	T T	TCTGCCCT others(195): Show TCTGCCCTGTCCCTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCT CCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAG TCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCA GTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCC ACC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	372	0.0027	202	c.462 others(215): Show c.462-96_462-95insTCCCTCCACCCCCGCCAGCCCTCACCCCCTGC CATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACC CCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCA CCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCC TTACCCCCCACCCTGCCCTG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(195): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATAT TATATATTATATGTATATTATGTATACATAATATTTATATATTATATGTA TAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG02895.hp1 others(1): Show HG02818.hp1 HG02886.hp2 HG02895.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0115 a0001c0001t0001g0208 a0002c0002t0005g0049 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0208 a0002c0002t0005g0049 a0002c0002t0005g0090	4	344	0.0116	202	c.896 others(219): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAATATATTATGTATACATAATATACATATAATATATAATA TATTATGTATACATAATATACATATAATATATAATATATTATGTATACAT AATATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTN_chr11_70393529_70441575	70411408	C C	CATGTGTT others(195): Show CATGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGGACAGACGGAATC CATGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGGACAGACGGAATC CATGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGAACAGACGGAATC CATGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGGACAGACGGAATC CAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0104 a0002c0004t0002g0104	1	322	0.0031	202	c.291 others(219): Show c.291+1448_291+1449insATGTGTTCAGTGCAGCGAGCGAAGCGTG TGCACACGGACAGACGGAATCCATGTGTTCAGTGCAGCGAGCGAAGCGTG TGCACACGGACAGACGGAATCCATGTGTTCAGTGCAGCGAGCGAAGCGTG TGCACACGAACAGACGGAATCCATGTGTTCAGTGCAGCGAGCGAAGCGTG TGCACACGGACAGACGGAATCCAT	CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	5/17			chr11	TogoVar
CTTN_chr11_70393529_70441575	70411408	C C	CATGTGTT others(195): Show CATGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGGACAGACGGAATC CATGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGGACAGACGGAATC CATGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGGACAGACGGAATC CATGTGTTCAGTGCAGCGAGCGAAGCGTGTGCACACGGACAGACGGAATC CAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp1 others(30): Show HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0013 a0001c0015 others(2): Show a0001c0001 a0001c0013 a0001c0015 a0002c0004 a0005c0008	a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 others(7): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0013t0013 a0001c0015t0003 a0002c0004t0001 a0002c0004t0004 a0002c0004t0010 a0002c0004t0018 a0005c0008t0004	a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0045 others(21): Show a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0013g0049 a0001c0001t0015g0097 a0001c0013t0013g0044 a0001c0015t0003g0050 a0002c0004t0001g0078 a0002c0004t0004g0004 a0002c0004t0004g0020 a0002c0004t0004g0042 a0002c0004t0004g0100 a0002c0004t0004g0101 a0002c0004t0004g0233 a0002c0004t0004g0240 a0002c0004t0010g0004 a0002c0004t0018g0020 a0005c0008t0004g0234	33	322	0.1025	202	c.291 others(219): Show c.291+1448_291+1449insATGTGTTCAGTGCAGCGAGCGAAGCGTG TGCACACGGACAGACGGAATCCATGTGTTCAGTGCAGCGAGCGAAGCGTG TGCACACGGACAGACGGAATCCATGTGTTCAGTGCAGCGAGCGAAGCGTG TGCACACGGACAGACGGAATCCATGTGTTCAGTGCAGCGAGCGAAGCGTG TGCACACGGACAGACGGAATCCAT	CTTN	ENSG00000085733.16	transcript	ENST00000301843.13	protein_coding	5/17			chr11	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(195): Show ATATATATATATGTGTATATATATATATATATATATGTGTATATATATAT ATATATGTGTATATATATATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATATATATATATGTGTATAT ATATATATATATATATATATGTGTATATATATATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0125 a0002c0002t0125	a0002c0002t0125g0201 a0002c0002t0125g0201	1	334	0.0030	202	c.290 others(217): Show c.290-150_290-149insTATATATATGTGTATATATATATATATATA TATGTGTATATATATATATATATGTGTATATATATATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATA TATATATATGTGTATATATATATATATATATATATATGTGTATATATATA TATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(195): Show ATATATATGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATATATATATATATATATATATATGTGTATAT ATATATATATATATATATATATGTGTATATATATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0112 a0002c0002t0112	a0002c0002t0112g0223 a0002c0002t0112g0223	1	334	0.0030	202	c.290 others(217): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATA TATATATGTGTATATATATATATATATATATGTGTATATATATATATATA TATATATATGTGTATATATATATATATATATATATATATGTGTATATATA TATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(195): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCC CCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCT CCC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	292	0.0034	202	c.165 others(217): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGGG AGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGG AGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGG AGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DACH1_chr13_71432966_71872204	71553445	C C	CATATATG others(195): Show CATATATGTATATTAGACATATATCCATATATGTATATTAGACATATATC CATATATGTATATTAGACATATATCCATATATGTATATTAGACATATATC CATATATGTATATTAGACATATATCCATATATGTATATTAGACATATATC CATATATGTATATTAGACATATATCCATATATGTATATTAGACATATATA CAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	102	0.0098	202	c.157 others(221): Show c.1570+3578_1570+3579insATGTATATATGTCTAATATACATATA TGGATATATGTCTAATATACATATATGGATATATGTCTAATATACATATA TGGATATATGTCTAATATACATATATGGATATATGTCTAATATACATATA TGGATATATGTCTAATATACATATATGGATATATGTCTAATATACATATA TGGATATATGTCTAATATACATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DBNDD1_chr16_89999871_90024456	90008179	C C	CCACACCT others(195): Show CCACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTC CCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTC CCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGC CTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCACCCCCC AAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02970.hp2 others(4): Show HG01891.hp2 HG02717.hp1 HG02970.hp2 HG03041.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0199 a0001c0001t0009g0243 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0199 a0001c0001t0009g0243 a0001c0001t0009g0249 a0001c0001t0009g0293 a0001c0001t0013g0192 a0001c0004t0001g0138	7	412	0.0170	202	c.319 others(217): Show c.319+604_319+605insTTTGGGGGGTGAGGCCCCTTGGGAAGTCCT GGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTG GGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGGGG TGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCC TTGGGAAGTCCTGGGAGGTGTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(195): Show ATGTGTGTGTATATACACATATATATACTATGTGTGTGTATATATACATA TATATACTATGTGTGTATATATATACATATATACTATATGTGTGTATATA TATACATATATACTATATGTGTGTGTATATATATACATATATATACTATA TATGTGTGTGTGTGTATGTATGTATATATATATATATATATATTTTTTTT TTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01943.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG01943.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0023 a0001c0002t0008 a0001c0002t0023	a0001c0002t0008g0012 a0001c0002t0023g0012 a0001c0002t0008g0012 a0001c0002t0023g0012	4	380	0.0105	202	c.-11 others(213): Show c.-1175_-1174insTGTGTGTGTATATACACATATATATACTATGTGT GTGTATATATACATATATATACTATGTGTGTATATATATACATATATACT ATATGTGTGTATATATATACATATATACTATATGTGTGTGTATATATATA CATATATATACTATATATGTGTGTGTGTGTATGTATGTATATATATATAT ATATATATTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(195): Show ATGTGTGTGTATATACACATATATATACTATGTGTGTGTATATATACATA TATATACTATGTGTGTATATATATACATATATACTATATGTGTGTATATA TATACATATATACTATATGTGTGTGTATATATATACATATATATACTATA TATGTGTGTGTGTGTATGTATGTATATATATATATATATATTTTTTTTTT TTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0119 a0001c0002t0008g0119	1	380	0.0026	202	c.-11 others(213): Show c.-1175_-1174insTGTGTGTGTATATACACATATATATACTATGTGT GTGTATATATACATATATATACTATGTGTGTATATATATACATATATACT ATATGTGTGTATATATATACATATATACTATATGTGTGTGTATATATATA CATATATATACTATATATGTGTGTGTGTGTATGTATGTATATATATATAT ATATATTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(195): Show ATATATAAAGTATATATTTATATAAATATATATTATATATAATATATATT TATATAAATATATATTATATATAATATATATTTATATAAATATATATTTA TAAAATATATTTATATATAATATATATTATATATAAATATATATTATATA AAATATATATTTATATAAAAATGTATTATATTATATATTATATAAATATA TAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0039 a0001c0001t0063g0039	1	356	0.0028	202	c.539 others(219): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATAT ATTATATATAATATATATTTATATAAATATATATTATATATAATATATAT TTATATAAATATATATTTATAAAATATATTTATATATAATATATATTATA TATAAATATATATTATATAAAATATATATTTATATAAAAATGTATTATAT TATATATTATATAAATATATATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DEPDC1B_chr5_60591912_60705166	60668137	T T	TTATATAT others(195): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATAAAATGGATATTTTATATATATATAAAATGGATA TTTTATATATATATAAAATGGATATTTTATATATATATAAAATGGATATT TTA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	292	0.0034	202	c.314 others(221): Show c.314+18824_314+18825insTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATAAA ATATCCATTTTATATATATATAAAATATCCATTTTATATATATATATAAA ATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATATA AAATATCCATTTTATATATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DIP2B_chr12_50499985_50753657	50598754	T T	TCTCCCCT others(195): Show TCTCCCCTCCCCCTCCCCCCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCT CTTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCT CCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCC CTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCT CTC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0262 a0001c0002t0018g0262	1	284	0.0035	202	c.101 others(221): Show c.101-27221_101-27220insTCCCCTCCCCCTCCCCCCTCCCCCTC TCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCC TCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCT CCCCCTCTCCCCCTCCCCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCC TCTCCCCCTCCCCTCTCCCCCTCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	429369	A A	ACCCTGGC others(195): Show ACCCTGGCTGCCTCCCCCCCCGGGCCCTGGCTGCCTCCCCCCCCCGGGCC CTGGCTGCCTCCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGC TGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTC CCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCC GGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	88	0.0114	202	c.395 others(219): Show c.395-6337_395-6336insCCCGGGGGGGAGGCAGCCAGGGCCCGGG GGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAG GCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCC AGGGCCCGGGGGGGGAGGCAGCCAGGGCCCGGGGGGGGGAGGCAGCCAGG GCCCGGGGGGGGAGGCAGCCAGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DNAH10_chr12_123757301_123940714	123912204	G G	GGGGGGTC others(195): Show GGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGG GGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGT CTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTACTGGGGGGGGTCTGT CCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0043 a0043	a0043c0047 a0043c0047	a0043c0047t0002 a0043c0047t0002	a0043c0047t0002g0023 a0043c0047t0002g0023	1	170	0.0059	202	c.101 others(221): Show c.10135-892_10135-891insGGGTCTGTCCTGGGTGGGTCTGTCCT GGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGG GGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTACTGGGGGGGGTCTGTCCTGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(195): Show ATATATATATAATATATATAATATGTATATATAATATATATATAATATGT ATATATAATATATATATAATATATATAATATATATAATATATATATAATA TATATAATATATATATAATATATATATTATATATATTATATAATATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATTTAA AAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	298	0.0034	202	c.554 others(219): Show c.5542-322_5542-321insATATATATAATATGTATATATAATATAT ATATAATATGTATATATAATATATATATAATATATATAATATATATAATA TATATATAATATATATAATATATATATAATATATATATTATATATATTAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATATTTAAAAGTATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(195): Show TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTG CTCCCCTGTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp2 HG02071.hp1 others(4): Show HG01071.hp2 HG01167.hp2 HG02071.hp1 HG02698.hp1 NA18970.hp1 NA18971.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0087 a0001c0001t0001g0230 a0001c0001t0001g0236 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0006t0001g0006	7	250	0.0280	202	c.-10 others(221): Show c.-107+5842_-107+5843insTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCTGCTCCCCTGTCTGCAGCCCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137567490	A A	ACTCTGTC others(195): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0028 a0001c0001t0003g0029	2	340	0.0059	202	c.641 others(219): Show c.641-2337_641-2336insAGTCACCCCGGGGAGCTTCCTCACAGAC AGAGTCACCCCGGGGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCC TCACAGACAGAGTCACCCCGGGGAGCTTCCTCACAGAGTCACCCAGGGGA GCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCC AGGGGAGCTTCCTCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567645	G G	GAGGAAGC others(195): Show GAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCG GGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAA GCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCT GTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	340	0.0029	202	c.641 others(219): Show c.641-2492_641-2491insGACAGACAGAGTCACCCAGGGGAGCTTC CTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGG GGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAGAGT CACCCCGGGGAGCTTCCTCACAGAGTCACCCAGGGGAGCTTCCTCACAGA CAGAGTCACCCAGGGGAGCTTCCT	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716160	G G	GTTGGTGT others(195): Show GTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAA ATT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	170	0.0059	202	c.86- others(215): Show c.86-466_86-465insTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAATT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407927	C C	CGGCTGGC others(195): Show CGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGCG GCTGGCCGGGTGGGGGGATGACCCCCCCACCTCCCTCCTGGACGGGGCGG CTGGCCGGGTGGGGGGCTGACCTCCCCACCTCCCTCCCGGAAGGGGTGGC TGGCTGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACAGGGCG GCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0182 a0001c0002t0015g0182	1	422	0.0024	202	c.145 others(219): Show c.145+3384_145+3385insTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCCCCACCT CCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCCCCACCTC CCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCCACC TCCCTCCCGGACAGGGCGGCTGGC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4G3_chr1_20801479_21181897	21179800	A A	ATATAATA others(195): Show ATATAATATATTATATATTATATATATTATATAATATATTATATATTATA TATATTATATAATATATTATATATTATATATATTATATTATATATATTAT ATATAATACATTATATATATTATATAATATATATAATATATTATATATAA TATATATAATATAATATATATAATATATATTTAATATATTATATATAATA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0205 a0001c0001t0009g0205	1	312	0.0032	202	c.-35 others(213): Show c.-3535_-3534insATATATTATATATAATATATTAAATATATATTAT ATATATTATATTATATATATTATATATAATATATTATATATATTATATAA TATATATAATGTATTATATATAATATATATAATATAATATATATAATATA TAATATATTATATAATATATATAATATATAATATATTATATAATATATAT AATATATAATATATTATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2904		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180071	T T	TATACATA others(195): Show TATACATAATATATAATATATAATATATATATTATATATATATTATGTAT AATATATTATATAATATATTATACATAATGTATAATATATATATAATATA TTATACATAATGTATAATATATATATAATATATTATACATAATATATAAT ATATATTACGTAATATATTACATATATATAATATATATTACGTAATATAT TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0232 a0001c0001t0010g0232	1	312	0.0032	202	c.-38 others(213): Show c.-3806_-3805insGTAATATATTACGTAATATATATTATATATATGT AATATATTACGTAATATATATTATATATTATGTATAATATATTATATATA TATTATACATTATGTATAATATATTATATATATATTATACATTATGTATA ATATATTATATAATATATTATACATAATATATATATAATATATATATTAT ATATTATATATTATGTAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3175		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3315172	C C	CCACCATC others(195): Show CCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCAT CCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCACCACCATCCTCACCA CCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCA CAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG01256.hp1 others(10): Show HG00140.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG03704.hp2 NA18906.hp2 NA18945.hp1 NA18952.hp2 NA18971.hp1 NA18995.hp1 NA19004.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 a0001c0001t0001 a0001c0001t0002 a0001c0002t0005	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(10): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0219 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0002t0005g0078	13	250	0.0520	202	c.259 others(221): Show c.259+22844_259+22845insCTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTGGGGGTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGG TGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGCTGTGGATGGGGATGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EML1_chr14_99788413_99947060	99927957	G G	GAGGTGGT others(195): Show GAGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTGGT GGGGGGGGTGGGGGGGTGGTGGTGGTGGTGGTATTGGTGGTGGGGGGGGT GGGGGGGTGGTGGTGGTGGTGGTATTGGTGGTGGTGATGGTGGTGGTAGT GGTAGTAGTGGTGGCGGTGGTGGTGGGGGTGGGGGTGGGGGTGGTGGTGG TAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01169.hp2 HG02145.hp1 HG01123.hp2 HG01169.hp2 HG02145.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0021 a0002c0001t0002g0066 a0002c0001t0002g0129 a0002c0001t0002g0021 a0002c0001t0002g0066 a0002c0001t0002g0129	3	288	0.0104	202	c.190 others(221): Show c.1909+7080_1909+7081insAGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTAGTGGTGGTGGGGGGGGTGGGGGGGTGGTGGTGGTG GTGGTATTGGTGGTGGGGGGGGTGGGGGGGTGGTGGTGGTGGTGGTATTG GTGGTGGTGATGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGG GGTGGGGGTGGGGGTGGTGGTGGTAT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
ERBIN_chr5_65921575_66087546	65934421	T T	TTCTCTTT others(195): Show TTCTCTTTTTTTTCAAGGCCTTGACACTTTTGAAGATCTGAAGATGACAG GCCTAGTTATTCTGTAGAATACCCCTCAATTTTCATTTGTGTGATATTTT TCATGATTAGATCTTTGATTAGATTTTTATGATTAGATCTTTGGCAGGGT TATTGTAAAAGTGATGCTGCATTCTTCTTATTACGTCTTATCAGGTGGCA GGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	306	0.0033	202	c.-58 others(219): Show c.-58+7616_-58+7817dupTCTCTTTTTTTTCAAGGCCTTGACACTT TTGAAGATCTGAAGATGACAGGCCTAGTTATTCTGTAGAATACCCCTCAA TTTTCATTTGTGTGATATTTTTCATGATTAGATCTTTGATTAGATTTTTA TGATTAGATCTTTGGCAGGGTTATTGTAAAAGTGATGCTGCATTCTTCTT ATTACGTCTTATCAGGTGGCAGGC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1121991	C C	CTCTATCT others(195): Show CTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTAT CTAAATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTCTATCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT CTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATATCTCTATCT CTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG00738.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0056 a0001c0001t0003 a0001c0001t0056	a0001c0001t0003g0029 a0001c0001t0056g0085 a0001c0001t0003g0029 a0001c0001t0056g0085	2	162	0.0124	202	c.156 others(221): Show c.1569+5977_1569+5978insGTGCCTATTGATATATCTGTATATAT CTATCTAAATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATATCTCT ATCTCTATCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD3_chr9_137301896_137428162	137386895	G G	GCCTCCCT others(195): Show GCCTCCCTCAGCACCCCTGCTCCCTGCCTGCCTCCCTCAGCACCCCTGCT CCCTGCCTGCCTCCCTCAGCACCCCTGCTCCCTGCCTGCCTCCCTCAGCA CCCCTGCTCCCTGCCTGCCTCCCTCAGCACCCCTGCTCCCTGCCTGGCCC CCTCAGCACCCCTGCTCCCTGCCTGCCTCCCTCAGCACCCCTGCTCCCTG CCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0025 a0025	a0025c0024 a0025c0024	a0025c0024t0001 a0025c0024t0001	a0025c0024t0001g0049 a0025c0024t0001g0049	1	82	0.0122	202	c.56- others(217): Show c.56-3519_56-3518insAGGCAGGGAGCAGGGGTGCTGAGGGAGGCA GGCAGGGAGCAGGGGTGCTGAGGGGGCCAGGCAGGGAGCAGGGGTGCTGA GGGAGGCAGGCAGGGAGCAGGGGTGCTGAGGGAGGCAGGCAGGGAGCAGG GGTGCTGAGGGAGGCAGGCAGGGAGCAGGGGTGCTGAGGGAGGCAGGCAG GGAGCAGGGGTGCTGAGGGAGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAT others(195): Show ATATATATATTATATATATCTATATATATTATATATATATTATATATATC TATATATATTATATATATATTATATATATCTATATATATTATATATATAT TATATATATCTATATATATTATATATATATTATATATATCTATATATATT ATATATATATTATATATATCTATATATATTATATATAATATATAGATATA TAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19030.hp1 HG02083.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0028 a0001c0002t0002g0118 a0001c0001t0003g0028 a0001c0002t0002g0118	2	272	0.0074	202	c.238 others(221): Show c.2381-1867_2381-1866insATATATATCTATATATTATATATAAT ATATATAGATATATATAATATATATATAATATATATAGATATATATAATA TATATATAATATATATAGATATATATAATATATATATAATATATATAGAT ATATATAATATATATATAATATATATAGATATATATAATATATATATAAT ATATATAGATATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATATACA others(195): Show TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACACATATATATATACATATATATATACA CATATATATATACATATATATATACACATATATATATACATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00735.hp2 others(14): Show HG00423.hp2 HG00609.hp2 HG00735.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG02074.hp1 HG02300.hp2 HG02559.hp1 HG03471.hp2 HG03834.hp1 HG04115.hp1 NA18945.hp1 NA18969.hp2 NA19072.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(14): Show a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172	17	372	0.0457	202	c.63+ others(217): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451821	T T	TATACATA others(195): Show TATACATATATATATACACATATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATATACACATATATATATACATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	372	0.0027	202	c.63+ others(217): Show c.63+3354_63+3355insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATATACACATATATA TATACATATATATATACACATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM168A_chr11_73395487_73603112	73545002	A A	AATTATAT others(195): Show AATTATATATTATATATAATATATATTATATATATTATATATAATATATT ATATATAATATATTATATATATATTATATATAATATATTATATATAATAT ATTATATATATATTATATATATTATATATAATATATATATAATATATATA TAATATATTATATATATATATTATATATATAATATATATATAATATATTA TAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG03139.hp2 HG02451.hp2 HG02630.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017	3	180	0.0167	202	c.-19 others(221): Show c.-19+52920_-19+52921insATATAATATATTATATATATATTATA TATATAATATATATATATAATATATTATATATATATTATATATATATTAT ATATAATATATATAATATATATATAATATATTATATATAATATATTATAT ATAATATATATATAATATATTATATATAATATATTATATATAATATATAT AATATATATTATATATAATATATAAT	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FLT4_chr5_180596506_180654600	180618172	A A	ATCCTATT others(195): Show ATCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCAC GTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCA CGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCA CGTCCTACTCCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCC ACG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0338 a0001c0001t0003g0338	1	388	0.0026	202	c.300 others(219): Show c.3001+597_3001+598insCGTGGGTGTCCCAGAGGCTGAGGGGCAG GAGAGGGTGCTCTGGGAGTAGGACGTGGGTGTCCCAGAGGCTGAGGGGCA GGAGAGGGTGCTCTGGAGTAGGACGTGGGTGTCCCAGAGGCTGAGGGGCA GGAGAGGGTGCTCTGGGAGTAGGACGTGGGTGTCCCAGAGGCTGAGGGGC AGGAGAGGGTGCTCTGGAATAGGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
FMN1_chr15_32760544_33199714	32950018	C C	CACACACA others(195): Show CACACACATATATATATACACATATATATATATACACATATATATATACA CACATATATATATACACATATATATATATACACATATATATATACACACA TATATATATATACACACATATATATATATACACATATATATATATACACA CACATATATATATATATATACACATATATATATATATATATACACACACA TAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0034 a0006c0008t0003g0034	1	196	0.0051	202	c.313 others(223): Show c.3138+14088_3138+14089insATATGTGTGTGTATATATATATAT ATATATGTGTATATATATATATATATGTGTGTGTATATATATATATGTGT ATATATATATATGTGTGTATATATATATATGTGTGTATATATATATGTGT ATATATATATATGTGTATATATATATGTGTGTATATATATATGTGTATAT ATATATATGTGTATATATATATGTGTGT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FOXP1_chr3_70949708_71588728	71396980	A A	ACACATAT others(195): Show ACACATATATATGTGTGTATATATATATACACATATATATGTGTATATAT ATACATATATATATGTGTGTATATATATATATATACACACATATATATGT GTATATATATATACATATATATGTGTATATATATATACACACATATATAT ATGTGTATATATATACACATATATATGTATATATATATATACACATATAT ATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0029	1	96	0.0104	202	c.-16 others(223): Show c.-167-37737_-167-37736insCATATATATGTGTATATATATATA TACATATATATGTGTATATATATACACATATATATATGTGTGTATATATA TATACACATATATATGTATATATATATACACATATATATGTGTGTATATA TATATATATACACACATATATATATGTATATATATACACATATATATGTG TATATATATATACACACATATATATGTG	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241806324	A A	ACCTCTGC others(195): Show ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCC CCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	314	0.0032	202	c.21 others(213): Show c.2158_*2159insCCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2038		chr2	TogoVar
GALNS_chr16_88808734_88861947	88831770	G G	GGGGTGCG others(195): Show GGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGG GGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGG CCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTG CGTGGGGGGGAGGGTGGTGAGGCTGAGCATGGGGTGCGTGGAGGCTGAGC ACA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	404	0.0025	202	c.100 others(219): Show c.1002+227_1002+228insTGTGCTCAGCCTCCACGCACCCCATGCT CAGCCTCACCACCCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTC TCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACGCAC CCCGTGCTCGGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCGGCCT CACCGCTCTCCTCCCCACGCACCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNT17_chr7_71127144_71718599	71680263	C C	CCTCTCTC others(195): Show CCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	76	0.0132	202	c.150 others(221): Show c.1500+2960_1500+2961insTCTCCCTTCCTCCCTCCCTCTCTCTC TCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCTCTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GMEB2_chr20_63582605_63632101	63608834	A A	ACACCTCC others(195): Show ACACCTCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTCTAGA AACATGCCCCTCTGACCCACACCTCCATTTCTAGAAACATGCCCCTCTGA CCCACCTCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATTTCTA GAAACATGCCCCTCTGACCCACCTCCATTTCTAGAAACATGCCCCTCTGA CCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp2 HG03195.hp2 others(1): Show HG01891.hp2 HG02897.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0013 a0001c0004t0004g0082 a0001c0004t0004g0085 a0001c0004t0004g0013 a0001c0004t0004g0082 a0001c0004t0004g0085	4	330	0.0121	202	c.132 others(219): Show c.132-3995_132-3994insGGGTCAGAGGGGCATGTTTCTAGAAATG GAGGTGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGGTCAGAGGG GCATGTTTCTAGAAATGGAGGTGGGTCAGAGGGGCATGTTTCTAGAAATG GAGGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGTCAGAGG GGCATGTTTCTAGAAATGGAGGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNAQ_chr9_77711097_78036811	77894359	T T	TATATAAT others(195): Show TATATAATATATATATTTAATAGAAAATATATAATATATATTTAATAGAA AATATATATAATATATATATTTAATAGAAAAAATATATAATATATATATT TAATAGAAAAAAATATATATTATATATAATTTAATATTAAATATATATAT AATATATATATTTAATATTAAAATATATATAATATATATATTTAATAGAA AAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02523.hp2 NA19081.hp2 HG00558.hp2 HG02523.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0150 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0150	3	282	0.0106	202	c.321 others(221): Show c.321+27801_321+27802insTTTTTCTATTAAATATATATATTATA TATATTTTAATATTAAATATATATATTATATATATATTTAATATTAAATT ATATATAATATATATTTTTTTCTATTAAATATATATATTATATATTTTTT CTATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATA TTTTCTATTAAATATATATATTATAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894359	T T	TATATAAT others(195): Show TATATAATATATATATTTAATAGAAAATATATAATATATATTTAATAGAA AATATATATAATATATATATTTAATAGAAAAAATATATAATATATATATT TAATAGAAAAATATATATATTATATATAATTTAATATTAAATATATATAT AATATATATATTTAATATTAAAATATATATAATATATATATTTAATAGAA AAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00621.hp2 others(62): Show HG00140.hp2 HG00423.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02615.hp2 HG02698.hp2 HG03017.hp2 HG03486.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp2 NA18954.hp2 NA18957.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19009.hp1 NA19043.hp2 NA19057.hp2 NA19063.hp2 NA19068.hp2 NA19086.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0051 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0084 a0001c0001t0086	a0001c0001t0001g0112 a0001c0001t0001g0148 a0001c0001t0002g0105 others(62): Show a0001c0001t0001g0112 a0001c0001t0001g0148 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0152 a0001c0001t0003g0069 a0001c0001t0003g0093 a0001c0001t0004g0036 a0001c0001t0004g0045 a0001c0001t0004g0055 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0004g0101 a0001c0001t0004g0143 a0001c0001t0004g0270 a0001c0001t0005g0041 a0001c0001t0005g0054 a0001c0001t0005g0056 a0001c0001t0005g0090 a0001c0001t0005g0095 a0001c0001t0005g0098 a0001c0001t0005g0103 a0001c0001t0005g0106 a0001c0001t0006g0113 a0001c0001t0006g0147 a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0007g0142 a0001c0001t0008g0092 a0001c0001t0008g0153 a0001c0001t0011g0022 a0001c0001t0011g0024 a0001c0001t0011g0025 a0001c0001t0011g0026 a0001c0001t0011g0028 a0001c0001t0021g0016 a0001c0001t0021g0017 a0001c0001t0022g0012 a0001c0001t0023g0013 a0001c0001t0023g0021 a0001c0001t0024g0023 a0001c0001t0024g0027 a0001c0001t0026g0088 a0001c0001t0026g0089 a0001c0001t0028g0110 a0001c0001t0030g0158 a0001c0001t0030g0190 a0001c0001t0040g0020 a0001c0001t0041g0019 a0001c0001t0042g0015 a0001c0001t0043g0014 a0001c0001t0044g0029 a0001c0001t0051g0104 a0001c0001t0063g0144 a0001c0001t0065g0091 a0001c0001t0066g0100 a0001c0001t0067g0099 a0001c0001t0069g0102 a0001c0001t0084g0238 a0001c0001t0086g0273	65	282	0.2305	202	c.321 others(221): Show c.321+27801_321+27802insTTTTTCTATTAAATATATATATTATA TATATTTTAATATTAAATATATATATTATATATATATTTAATATTAAATT ATATATAATATATATATTTTTCTATTAAATATATATATTATATATTTTTT CTATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATA TTTTCTATTAAATATATATATTATAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053681	T T	TCCACACA others(195): Show TCCACACACACCACACACCATTCCAAACCATGCTACACACCACACACCAC ACCACACACTCCACACCAGAACACACACCATGCCACACCACTCCACACAA CACGCCACACACCATTCCACACCAAACCACACCCCACACACTCCACACCA CACACAACCACTCCATACCAAACCACACACCATACCACACTCCACACTCC ACA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	314	0.0032	202	c.310 others(219): Show c.310-1091_310-1090insTGTGGAGTGTGGAGTGTGGTATGGTGTG TGGTTTGGTATGGAGTGGTTGTGTGTGGTGTGGAGTGTGTGGGGTGTGGT TTGGTGTGGAATGGTGTGTGGCGTGTTGTGTGGAGTGGTGTGGCATGGTG TGTGTTCTGGTGTGGAGTGTGTGGTGTGGTGTGTGGTGTGTAGCATGGTT TGGAATGGTGTGTGGTGTGTGTGG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATATA others(195): Show TATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATA TATATATGTACATATATATGTTCATATATATATGTTCATATATATATGTA CATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATG TTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA21309.hp1 HG02809.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0166 a0001c0001t0001g0170	2	234	0.0086	202	c.143 others(219): Show c.143+2206_143+2207insGTTCATATATATATGTTCATATATATGT ATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATAT ATATATGTACATATATATGTTCATATATATATGTTCATATATATATGTAC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATATGTTCATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143218203	A A	ACCATCCC others(195): Show ACCATCCCCAACACCCCAATAACCCCCCAACACCACCCCAACACCACCCC CAATACCACCCCCACCACCCCCAACACCATCCCCAACACCACCCCAACAC CACCCAACACCATCCCCCACACCACCCCCAACACCACCCCCACACCGCCC ACACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAA TAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0002	1	106	0.0094	202	c.26 others(213): Show c.2685_*2686insCCATCCCCAACACCCCAATAACCCCCCAACACCA CCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCATCCCCA ACACCACCCCAACACCACCCAACACCATCCCCCACACCACCCCCAACACC ACCCCCACACCGCCCACACACCAGCCCCAACACCACCCCCAACACCAGCC CCAACACCACCCCAATAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1034		chr8	TogoVar
GPR157_chr1_9095305_9134102	9116292	A A	ATTATATT others(195): Show ATTATATTATATATAATTATATATAATTATATTATATATTATATGTAATA TAAATATATATAATTATATTATATATATTATATGTAATATAATTATATAT ATTTATATTATATATTATATATAATATATATTATATATAATATAATTATA TATATAATTTATATATATTATATATAATATAATTATATATATAATATATA TAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG03195.hp1 others(1): Show HG02615.hp1 HG02818.hp2 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0184 a0001c0001t0011g0185 others(1): Show a0001c0001t0011g0045 a0001c0001t0011g0184 a0001c0001t0011g0185 a0001c0001t0011g0186	4	404	0.0099	202	c.384 others(219): Show c.384-4804_384-4803insATATATATATTATATATATAATTATATT ATATATAATATATATAAATTATATATATAATTATATTATATATAATATAT ATTATATATAATATATAATATAAATATATATAATTATATTACATATAATA TATATAATATAATTATATATATTTATATTACATATAATATATAATATAAT TATATATAATTATATATAATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(195): Show AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATTTATATTTATTTATAAATAAATATATATAAATATATATTTATA TTTATTTATATATAAATATATAAATATATATTTATAGTTATTTATATATA AATATATAAATATATATTTATAGTTAATTATATATAAATATATAAATCTA TAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0195 a0001c0002t0060g0195	1	208	0.0048	202	c.-97 others(219): Show c.-97-2068_-97-2067insATATATATAAATATATATTTATATTTAT TTATAAATAAATATATATAAATATATATTTATATTTATTTATAAATAAAT ATATATAAATATATATTTATATTTATTTATATATAAATATATAAATATAT ATTTATAGTTATTTATATATAAATATATAAATATATATTTATAGTTAATT ATATATAAATATATAAATCTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
HIGD1C_chr12_50947544_50975607	50948916	G G	GGGGAGGG others(195): Show GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGG GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	380	0.0026	202	c.-38 others(213): Show c.-3863_-3862insGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3627		chr12	TogoVar

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Search Results (Total: 10000 hits)