Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCSER2_chr10_84323589_84523517	84501836	T T	TATATATA others(101): Show TATATATATATATATATATATATATATATATATACTCATATATATATATA TATATATATATATATATATATATATATATACTCATATATATATATATATA TATATACTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	370	0.0027	108	c.232 others(129): Show c.2326-11590_2326-11589insTATATATATACTCATATATATATA TATATATATATATATATATATATATATATATACTCATATATATATATATA TATATATACTCATATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD200R1L_chr3_112810711_112851864	112812056	A A	ATGTCCAT others(101): Show ATGTCCATTCCAAGGCTCGGCAGTAACATCTGAGATTAATCTTCTCAACA GCATGACCTGACCACGCAGTGCCCACGACAGAGGAGACCTGCTTCCTCTC TAGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	408	0.0025	108	c.39 others(119): Show c.3906_*3907insCAGAACCTAGAGAGGAAGCAGGTCTCCTCTGTCG TGGGCACTGCGTGGTCAGGTCATGCTGTTGAGAAGATTAATCTCAGATGT TACTGCCGAGCCTTGGAATGGACA	CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding		3654		chr3	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(101): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0257 a0002c0003t0003g0257	1	424	0.0024	108	c.774 others(123): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(101): Show TATATACACAAGTGTGTGTATACGCATACACACACATATGTGTGTGTATA CGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTG TGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	108	c.27 others(119): Show c.2768_*2769insATATACACAAGTGTGTGTATACGCATACACACAC ATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDCP1_chr3_45077277_45151378	45108706	T T	TATATATG others(101): Show TATATATGCATGTATACATATATATATGCATGTATACATATATATGCATG TATATATATATATGCATGTATACATATATATGCATGTATATATATATATG CATGTATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01175.hp1 HG01070.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0062 a0001c0001t0003g0063	2	384	0.0052	108	c.102 others(127): Show c.1024+1766_1024+1767insGTATACATGCATATATATATATACAT GCATATATATGTATACATGCATATATATATATACATGCATATATATGTAT ACATGCATATATATATGTATACATGCATATAT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDCP1_chr3_45077277_45151378	45108724	C C	CATATATA others(101): Show CATATATATATGCATGTATACATATATATGCATGTATATATATATATGCA TGTATACATATATATGCATGTATATATATATATGCATGTATACATATATA TGCATGTAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03239.hp1 homoSapiens_chm13v2.hp1 HG00741.hp2 HG03239.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0348 a0001c0003t0001g0356 a0001c0003t0004g0028 a0001c0003t0001g0348 a0001c0003t0001g0356 a0001c0003t0004g0028	3	384	0.0078	108	c.102 others(127): Show c.1024+1641_1024+1748dupATACATGCATATATATGTATACATGC ATATATATATATACATGCATATATATGTATACATGCATATATATATATAC ATGCATATATATGTATACATGCATATATATAT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDH13_chr16_82621969_83805640	83658072	G G	GCCATATC others(101): Show GCCATATCCTCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCCATGT CCTCACCAGCAAGGTCCCATATCCTCACCAGCAAGGTCTCATGTCCTCAC CACCAGGTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02717.hp2 others(9): Show HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0014	a0001c0001t0002 a0001c0001t0037 a0001c0002t0006 others(9): Show a0001c0001t0002 a0001c0001t0037 a0001c0002t0006 a0001c0005t0005 a0001c0005t0014 a0001c0005t0039 a0001c0005t0047 a0001c0007t0001 a0001c0007t0004 a0001c0008t0015 a0001c0010t0003 a0001c0014t0046	a0001c0001t0002g0089 a0001c0001t0037g0022 a0001c0002t0006g0027 others(9): Show a0001c0001t0002g0089 a0001c0001t0037g0022 a0001c0002t0006g0027 a0001c0005t0005g0015 a0001c0005t0014g0040 a0001c0005t0039g0017 a0001c0005t0047g0078 a0001c0007t0001g0080 a0001c0007t0004g0107 a0001c0008t0015g0048 a0001c0010t0003g0062 a0001c0014t0046g0013	12	110	0.1091	108	c.110 others(129): Show c.1102-12714_1102-12713insATCCTCACCAGCAAGGTCTCATGT CCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTCCCATATCCTCACC AGCAAGGTCTCATGTCCTCACCACCAGGTCCCAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH22_chr20_46168739_46313498	46236566	T T	TATATATT others(101): Show TATATATTATATATAAATATAATATATAATATATTATATATAAATATAAT ATATAATATATTATATATAAATATAATATATAATATATTATATATAAATA TAATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	318	0.0031	108	c.550 others(125): Show c.550+4396_550+4397insTATATATTATATTTATATATAATATATT ATATATTATATTTATATATAATATATTATATATTATATTTATATATAATA TATTATATATTATATTTATATATAATATAT	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	3/11			chr20	TogoVar
CDK11A_chr1_1697379_1729357	1717636	T T	TCGGTCTG others(101): Show TCGGTCTGTGACACACGCATGCTTTCAGCTAGAGTTTGCTCTCTCTGGTT TTCGGTCTGTGACACACGCACACTTTCAGCTGGAGTATCCTCTCTATAGC CCCTCTGAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp2 HG02451.hp1 others(4): Show HG01099.hp2 HG02257.hp2 HG02451.hp1 HG02630.hp2 HG02895.hp2 NA19043.hp1 NA19240.hp2	a0005 a0007 a0023 a0005 a0007 a0023	a0005c0005 a0007c0024 a0023c0019 a0005c0005 a0007c0024 a0023c0019	a0005c0005t0001 a0007c0024t0003 a0023c0019t0001 a0005c0005t0001 a0007c0024t0003 a0023c0019t0001	a0005c0005t0001g0020 a0005c0005t0001g0146 a0005c0005t0001g0147 others(2): Show a0005c0005t0001g0020 a0005c0005t0001g0146 a0005c0005t0001g0147 a0007c0024t0003g0149 a0023c0019t0001g0148	7	372	0.0188	108	c.356 others(125): Show c.356-1266_356-1159dupTTCAGAGGGGCTATAGAGAGGATACTCC AGCTGAAAGTGTGCGTGTGTCACAGACCGAAAACCAGAGAGAGCAAACTC TAGCTGAAAGCATGCGTGTGTCACAGACCG	CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding	4/19			chr1	TogoVar
CDYL_chr6_4771404_4960544	4895265	A A	ACATATGT others(101): Show ACATATGTGTATGTATATATGTGCATATATGCATGTATGTATATATGTGC ATATATGCATGTATGTATATATGTGCATATATGCATGTATGTATATATGT GCATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0152 a0001c0002t0006g0152	1	250	0.0040	108	c.691 others(125): Show c.691+2889_691+2890insATGTGTATGTATATATGTGCATATATGC ATGTATGTATATATGTGCATATATGCATGTATGTATATATGTGCATATAT GCATGTATGTATATATGTGCATATATGCAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPJ_chr13_24877279_24927861	24882005	G G	GATATATA others(101): Show GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0124 a0002c0003t0003g0124	1	440	0.0023	108	c.11 others(119): Show c.1171_*1172insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATCTATATAGATGTATCTATAT ATCTATATAGATGTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		273		chr13	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(101): Show AAAAAAAAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATG TATATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATT TACTATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02572.hp2 HG01243.hp1 HG01884.hp2 HG02572.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0003 a0001c0001t0004 a0003c0003t0003	a0001c0001t0004g0101 a0003c0003t0003g0082 a0003c0003t0003g0173 a0001c0001t0004g0101 a0003c0003t0003g0082 a0003c0003t0003g0173	3	362	0.0083	108	c.478 others(125): Show c.478-1174_478-1173insAAAAAAGATGGTCCTGAGTTGATAATTG AAACTGGCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTG TATGTGTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP83_chr12_94302698_94464867	94450766	G G	GGGGTGGT others(101): Show GGGGTGGTTTTTTTTTATTTTGTCTTTTTTTAAGTTTTTGTTTTTTTATT TTTTTTTTTTTTTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT TTTTTATGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0061 a0001c0004t0001g0061	1	364	0.0028	108	c.-15 others(127): Show c.-155+8790_-155+8791insACATAAAAAAAAACAAAAAAAAAAAA AAAAAAAAAAAAAGAAAAATAAAAAAAAAAAAAAATAAAAAAACAAAAAC TTAAAAAAAGACAAAATAAAAAAAAACCACCC	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	1/16			chr12	TogoVar
CFAP46_chr10_132803392_132947570	132936597	G G	GTGATCTC others(101): Show GTGATCTCCTCACTCCCCTTGGCATCCAAACACACCATGATCTCCTCACT CCCCTTGGCATCCAAACACACCATGATCTCCTCACTCCCCTCGGCATCCA AACACACCA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0053 a0053	a0053c0068 a0053c0068	a0053c0068t0002 a0053c0068t0002	a0053c0068t0002g0012 a0053c0068t0002g0012	1	246	0.0041	108	c.755 others(123): Show c.755+363_755+364insTGGTGTGTTTGGATGCCGAGGGGAGTGAGG AGATCATGGTGTGTTTGGATGCCAAGGGGAGTGAGGAGATCATGGTGTGT TTGGATGCCAAGGGGAGTGAGGAGATCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP53_chr18_50222193_50271495	50242316	G G	GATTAAAG others(101): Show GATTAAAGTAAGACAGGCATAAGAAATTATAAAAGTATTAATTTTGAGAA CTAATAAATGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTA AAAACAGGC	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	402	0.0025	108	c.121 others(125): Show c.1213+476_1213+583dupGCCTGTTTTTACTGCAATCTCTGAACAT AAATTGTGAAGATTTCATGGACATTTATTAGTTCTCAAAATTAATACTTT TATAATTTCTTATGCCTGTCTTACTTTAAT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	6/7			chr18	TogoVar
CFAP61_chr20_20047532_20365698	20337282	A A	ATGGATGG others(101): Show ATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGATGGATAAATGGATGGATGGATGGATGGATAG ATGGGTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0002 a0026c0030t0002	a0026c0030t0002g0056 a0026c0030t0002g0056	1	236	0.0042	108	c.342 others(127): Show c.3423-4540_3423-4539insGGATGGATGGATGGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGGTGGATGGATAAATGGATGGAT GGATGGATGGATAGATGGGTGGGTGGATGGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHCHD6_chr3_126699240_126965420	126865134	T T	TCCTCCAC others(101): Show TCCTCCACCACCACCTCCACTTCTTCCTCCTCCTCCTCCACCACCACCTC CACTTCTTCCTCCTCCTCCTCCACCACCACCTCCACTTCTTCCTCCTCCT CCTCCTCCA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	216	0.0046	108	c.495 others(127): Show c.495+12406_495+12407insTCCACCACCACCTCCACTTCTTCCTC CTCCTCCTCCACCACCACCTCCACTTCTTCCTCCTCCTCCTCCACCACCA CCTCCACTTCTTCCTCCTCCTCCTCCTCCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLEC10A_chr17_7069537_7085251	7077716	A A	ACCATCAA others(101): Show ACCATCAATCACTCCATCAGTGCCCTCTCCTCCATTCCCATCAATCACTC CATCAGTGCCCTCTCCTCCATTCCCATCAATCACTCCATCAGTGCCCTCT CCTCCATTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp1 NA18940.hp2 others(6): Show HG00609.hp1 HG01074.hp1 NA18940.hp2 NA18944.hp2 NA18953.hp1 NA18975.hp1 NA18985.hp2 NA19012.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0004t0003 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0003 a0002c0001t0001	a0001c0002t0001g0016 a0001c0002t0001g0089 a0001c0003t0001g0094 others(3): Show a0001c0002t0001g0016 a0001c0002t0001g0089 a0001c0003t0001g0094 a0001c0004t0003g0088 a0002c0001t0001g0100 a0002c0001t0001g0101	9	458	0.0197	108	c.184 others(123): Show c.184+280_184+281insGAATGGAGGAGAGGGCACTGATGGAGTGAT TGATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGGGAATGGAG GAGAGGGCACTGATGGAGTGATTGATGG	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
CLPTM1L_chr5_1312752_1350099	1333252	A A	AGATGAGG others(101): Show AGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGAGGATGAGGG ACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACA CCAGATGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02976.hp1 others(6): Show HG02109.hp2 HG02572.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03579.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 others(6): Show a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237	9	370	0.0243	108	c.891 others(125): Show c.891+1036_891+1037insCTCATCTGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTG TGTATACAGTAGTCTCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPX_chr15_65143219_65190342	65145958	A A	AAAATATA others(101): Show AAAATATATATATAAATATATATATAAATATATATATAAATATATATATA AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	190	0.0053	108	c.48 others(119): Show c.4864_*4865insATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATATTT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2260		chr15	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAA others(101): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAGAGAAAAGAAGAAAGAGAAAGAAAGAA AAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	414	0.0024	108	c.424 others(121): Show c.424-67_424-66insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAAAAGAA GAAAGAGAAAGAAAGAAAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAA others(101): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAGGGAAAAGAAGAAAGAGAAAGAAAGAA AAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	414	0.0024	108	c.424 others(121): Show c.424-67_424-66insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGGGAAAAGAA GAAAGAGAAAGAAAGAAAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(101): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATATAT ATATATATATATATATATATATATATATATATATGTTTTTTTTTTTTTGA GACAGAGTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp1 HG02015.hp2 others(1): Show HG00609.hp2 HG01167.hp1 HG02015.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0054 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0067	4	152	0.0263	108	c.432 others(127): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTGTGTATAT ATACATATATATATATATATATATATATATATATATATATATATATATAT ATATATGTTTTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(101): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATAT ATATATATATATATATATATATATATATATATATGTTTTTTTTTTTTTGA GACAGAGTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0006 a0004c0003t0001g0006	1	152	0.0066	108	c.432 others(127): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTGTGTGTAT ATATACATATATATATATATATATATATATATATATATATATATATATAT ATATATGTTTTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNDP2_chr18_74491363_74528454	74504031	T T	TGCTGGGA others(101): Show TGCTGGGACAAATGATGGGCGTCAGGCCATACACTGCACACGCAGCCACA GTGCCGCTGGGACAAATGAGGGGCGTCAGGCCACACGCCACACACGCAGC CACACTGCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	424	0.0024	108	c.205 others(125): Show c.205-1803_205-1696dupTGGGCGTCAGGCCATACACTGCACACGC AGCCACAGTGCCGCTGGGACAAATGAGGGGCGTCAGGCCACACGCCACAC ACGCAGCCACACTGCCGCTGGGACAAATGA	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNDP2_chr18_74491363_74528454	74504316	G G	GGGGCGTC others(101): Show GGGGCGTCAGGCCATACACTGCACACGCAGCCACACTGCCACTGGGACAA ATGAGGGGCGTCAGGCCACACGCCACACACGCAGCCACAGTGCCGCTGGG ACAAATGAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0083 a0002c0002t0044g0083	1	424	0.0024	108	c.205 others(125): Show c.205-1494_205-1493insACTGGGACAAATGAGGGGCGTCAGGCCA CACGCCACACACGCAGCCACAGTGCCGCTGGGACAAATGATGGGCGTCAG GCCATACACTGCACACGCAGCCACACTGCC	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNGA2_chrX_151729746_151750564	151743028	G G	GTGTATAT others(101): Show GTGTATATATATATACACATATATATACACATATATATGTATATATATGT GTATATATATATATATACACATATATATGTATATATATGTGTATATATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02071.hp1 NA19078.hp1 HG00597.hp2 HG02071.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0004g0066 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0004g0066	3	336	0.0089	108	c.590 others(121): Show c.590-65_590-64insTGTATATATATATACACATATATATACACATA TATATGTATATATATGTGTATATATATATATATACACATATATATGTATA TATATGTGTATATATATATATATATA	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6			chrX	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(101): Show GACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp2 HG02970.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0039 a0001c0001t0024 a0001c0001t0039	a0001c0001t0024g0319 a0001c0001t0039g0318 a0001c0001t0024g0319 a0001c0001t0039g0318	2	328	0.0061	108	c.5+2 others(119): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNR2_chr1_23865515_23918362	23899843	A A	AAAGAAAG others(101): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0041	1	268	0.0037	108	c.-46 others(127): Show c.-46+13402_-46+13403insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899843	A A	AAAGAAAG others(101): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0067 a0002c0002t0066g0067	1	268	0.0037	108	c.-46 others(127): Show c.-46+13402_-46+13403insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899843	A A	AAAGAAAG others(101): Show AAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAA GAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0261 a0004c0004t0013g0261	1	268	0.0037	108	c.-46 others(127): Show c.-46+13402_-46+13403insCTTTCCTTCTTTCCTTCTTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCTTCCTTTCTTCCTTTCTTTCTTTCTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTNAP2_chr7_146111801_148425998	146712283	T T	TGTATACA others(101): Show TGTATACATATCTTATGTATACTATATAGTATACATATCTTATGTATACT ATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATGTA TACTATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	40	0.0250	108	c.98- others(125): Show c.98-61987_98-61880dupGTATACATATCTTATGTATACTATATAG TATACATATCTTATGTATACTATATAGTATACATATCTTATGTATACTAT ATAGTATACATATCTTATGTATACTATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL14A1_chr8_120120102_120378573	120348173	A A	ATATATAT others(101): Show ATATATATATGAAGCATATATAAAGCATATATATATGTATATATATGAAG CATATATAAAGCATATATATATGTATATATATGAAGCATATATAAAGCAT ATATATATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01981.hp1 HG02145.hp2 others(8): Show HG01433.hp1 HG01981.hp1 HG02145.hp2 HG02698.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03516.hp2 HG03710.hp1 NA18906.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0011	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0033 a0003c0004 a0009c0029 a0011c0025	a0001c0001t0003 a0001c0003t0019 a0002c0002t0001 others(5): Show a0001c0001t0003 a0001c0003t0019 a0002c0002t0001 a0002c0002t0002 a0002c0033t0001 a0003c0004t0001 a0009c0029t0001 a0011c0025t0001	a0001c0001t0003g0198 a0001c0003t0019g0076 a0002c0002t0001g0007 others(8): Show a0001c0001t0003g0198 a0001c0003t0019g0076 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0002g0132 a0002c0033t0001g0211 a0003c0004t0001g0196 a0009c0029t0001g0114 a0011c0025t0001g0157	11	218	0.0505	108	c.507 others(127): Show c.5077+2646_5077+2753dupGTATATATATGAAGCATATATAAAGC ATATATATATGTATATATATGAAGCATATATAAAGCATATATATATGTAT ATATATGAAGCATATATAAAGCATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45430101	G G	GCCCTCTC others(101): Show GCCCTCTCGTTGGGGACCCCCCATCTCCCTAGCGCCCTCTCATCCTCTCC TGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCTGTC TCCCTGGCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(47): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00733.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02129.hp1 HG02273.hp1 HG02280.hp1 HG02559.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03688.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA18949.hp2 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18966.hp1 NA18975.hp2 NA18983.hp2 NA18990.hp1 NA19005.hp1 NA19007.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19088.hp2 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0008 a0019 a0021 a0036 a0037	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0017 a0001c0061 a0001c0081 a0002c0012 a0002c0084 a0003c0009 a0008c0101 a0019c0096 a0021c0086 a0036c0048 a0037c0049	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0005t0002 a0001c0006t0003 a0001c0007t0002 a0001c0008t0002 a0001c0011t0001 a0001c0017t0002 a0001c0017t0003 a0001c0061t0001 a0001c0081t0003 a0002c0012t0004 a0002c0084t0002 a0003c0009t0001 a0008c0101t0005 a0019c0096t0015 a0021c0086t0002 a0036c0048t0004 a0037c0049t0004	a0001c0001t0001g0093 a0001c0001t0001g0175 a0001c0001t0001g0187 others(47): Show a0001c0001t0001g0093 a0001c0001t0001g0175 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0002t0001g0080 a0001c0002t0002g0060 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0269 a0001c0002t0002g0283 a0001c0003t0001g0005 a0001c0003t0001g0110 a0001c0003t0001g0193 a0001c0003t0001g0287 a0001c0004t0001g0255 a0001c0005t0002g0070 a0001c0005t0002g0158 a0001c0006t0003g0177 a0001c0006t0003g0180 a0001c0006t0003g0204 a0001c0006t0003g0215 a0001c0006t0003g0259 a0001c0006t0003g0291 a0001c0007t0002g0185 a0001c0007t0002g0194 a0001c0008t0002g0260 a0001c0008t0002g0268 a0001c0008t0002g0270 a0001c0008t0002g0272 a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 a0001c0017t0002g0179 a0001c0017t0003g0205 a0001c0061t0001g0257 a0001c0081t0003g0154 a0002c0012t0004g0058 a0002c0084t0002g0212 a0003c0009t0001g0247 a0008c0101t0005g0027 a0019c0096t0015g0045 a0021c0086t0002g0176 a0036c0048t0004g0184 a0037c0049t0004g0183	50	292	0.1712	108	c.106 others(127): Show c.106+24649_106+24650insATCTCCCTAGCGCCCTCTCATCCTCT CCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCTG TCTCCCTGGCACCCTCTCGTTGGGGACCCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921481	T T	TATTCATA others(101): Show TATTCATATATATTCATATATATTCATATATTCATATATATTCATATATA TTCATATATTCATATATATTCATATATATTCATATATTCATATATATTCA TATATATTC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0036 a0002c0004t0001g0036	1	182	0.0055	108	c.267 others(125): Show c.267-6426_267-6425insTCATATATATTCATATATATTCATATAT TCATATATATTCATATATATTCATATATTCATATATATTCATATATATTC ATATATTCATATATATTCATATATATTCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110253239	A A	ATATGTAC others(101): Show ATATGTACGTATGTATTATATATACATGTAACTATATGTACGTATTATAT ATACATATAACTATATGTATGTATGTATTATATATACATATAACTATATG TATGTATGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04228.hp1 HG03239.hp2 HG04228.hp1	a0002 a0004 a0002 a0004	a0002c0043 a0004c0005 a0002c0043 a0004c0005	a0002c0043t0001 a0004c0005t0001 a0002c0043t0001 a0004c0005t0001	a0002c0043t0001g0223 a0004c0005t0001g0101 a0002c0043t0001g0223 a0004c0005t0001g0101	2	344	0.0058	108	c.85- others(125): Show c.85-10506_85-10505insACATACATACATATAGTTATATGTATAT ATAATACATACATACATATAGTTATATGTATATATAATACGTACATATAG TTACATGTATATATAATACATACGTACATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253239	A A	ATATGTAC others(101): Show ATATGTACGTATGTATTATATATACATGTAACTATATGTACGTATTATAT ATACATGTAACTATATGTATGTATGTATTATATATACATATAACTATATG TATGTATGT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19079.hp1 NA19085.hp2 NA19003.hp2 NA19079.hp1 NA19085.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0014 a0002c0002 a0003c0014	a0002c0002t0001 a0003c0014t0001 a0002c0002t0001 a0003c0014t0001	a0002c0002t0001g0246 a0002c0002t0001g0247 a0003c0014t0001g0212 a0002c0002t0001g0246 a0002c0002t0001g0247 a0003c0014t0001g0212	3	344	0.0087	108	c.85- others(125): Show c.85-10506_85-10505insACATACATACATATAGTTATATGTATAT ATAATACATACATACATATAGTTACATGTATATATAATACGTACATATAG TTACATGTATATATAATACATACGTACATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203369	G G	GTGTATAT others(101): Show GTGTATATATACACATATATGTGTATATATGTGTATATATACACATATAT GTGTATATATGTGTATATATACACATATATGTGTATATATGTGTATATAT ACACATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 NA19240.hp2 HG02615.hp1 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0005g0051 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0005g0051	3	344	0.0087	108	c.88- others(125): Show c.88-34593_88-34592insTATACACATATATGTGTATATATGTGTA TATATACACATATATGTGTATATATGTGTATATATACACATATATGTGTA TATATGTGTATATATACACATATATGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203609	A A	ATATGTGT others(101): Show ATATGTGTATATATACGTATGTGTGTATATGTGTATATATACGTATATGT GTGTATATGTGTATATATACGTATATGTGTGTATATGTGTATATATACGT ATATGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01943.hp1 HG02258.hp2 others(2): Show HG01361.hp1 HG01943.hp1 HG02258.hp2 HG03017.hp2 HG04204.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0002 a0005c0005t0007 a0001c0001t0002 a0005c0005t0002 a0005c0005t0007	a0001c0001t0002g0344 a0005c0005t0002g0083 a0005c0005t0007g0162 others(2): Show a0001c0001t0002g0344 a0005c0005t0002g0083 a0005c0005t0007g0162 a0005c0005t0007g0215 a0005c0005t0007g0298	5	344	0.0145	108	c.88- others(125): Show c.88-34356_88-34355insGTGTATATATACGTATGTGTGTATATGT GTATATATACGTATATGTGTGTATATGTGTATATATACGTATATGTGTGT ATATGTGTATATATACGTATATGTGTGTAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134679380	G G	GTTAGGGG others(101): Show GTTAGGGGGCACTGCGGGGCTGGTTAGGGGGCACTGTGGGGCTTCTTAGG GGGCACTGTGGGGCTGGTTGGGGGCACTGTGGGGCTGGTTGGGGGCACTG CGGGGCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02257.hp2 others(5): Show HG00438.hp2 HG00673.hp1 HG02257.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0016 a0001c0024	a0001c0001t0002 a0001c0002t0005 a0001c0003t0004 others(5): Show a0001c0001t0002 a0001c0002t0005 a0001c0003t0004 a0001c0006t0047 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0024t0001	a0001c0001t0002g0023 a0001c0002t0005g0025 a0001c0003t0004g0262 others(5): Show a0001c0001t0002g0023 a0001c0002t0005g0025 a0001c0003t0004g0262 a0001c0006t0047g0019 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0024t0001g0207	8	272	0.0294	108	c.110 others(127): Show c.110-11519_110-11518insCGGGGCTGGTTAGGGGGCACTGTGGG GCTTCTTAGGGGGCACTGTGGGGCTGGTTGGGGGCACTGTGGGGCTGGTT GGGGGCACTGCGGGGCTTCTTAGGGGGCACTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189157133	T T	TATAGATA others(101): Show TATAGATATATCGATATATCTATATATATATAGATATATCGATATATCTA TATATATCTATATATAGATATATCGATATATCTATATATATCTATATATA GATATATCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	248	0.0040	108	c.97+ others(125): Show c.97+22374_97+22375insCGATATATCTATATATAGATATATATAG ATATATCGATATATCTATATATAGATATATATAGATATATCGATATATCT ATATATATATAGATATATCGATATATCTAT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45980672	C C	CTCTCCGT others(101): Show CTCTCCGTCTCTGTCTGTCTCTCCTCTCTCTCTGTCTCTCTCTGTCTCTG TCTCTCTGTCTCTGTCTTTGTCTCTCTCTGTCTCTCCTCTCTCTGTGTCT CTGTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01123.hp2 others(5): Show HG00642.hp1 HG00733.hp1 HG01123.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02602.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0028 a0002c0002 a0003c0028	a0002c0002t0001 a0003c0028t0001 a0002c0002t0001 a0003c0028t0001	a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0056 others(5): Show a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0078 a0002c0002t0001g0126 a0002c0002t0001g0127 a0003c0028t0001g0053	8	128	0.0625	108	c.-11 others(119): Show c.-1179_-1178insTCTCCGTCTCTGTCTGTCTCTCCTCTCTCTCTGT CTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTCTCTGTCTCT CCTCTCTCTGTGTCTCTGTCTCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1097		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134455	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCA GGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGG GTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	372	0.0027	108	c.49 others(119): Show c.4964_*4965insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGG TCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC AGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4655		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134455	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTA GGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGG GTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	372	0.0027	108	c.49 others(119): Show c.4964_*4965insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG AGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4655		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134461	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCA GGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGG GTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0193 a0003c0004t0011g0193	1	372	0.0027	108	c.49 others(119): Show c.4970_*4971insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGG TCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTC AGGTTTAGGGTCAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4661		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134677	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTA GGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGG GTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0327 a0001c0002t0002g0327	1	372	0.0027	108	c.51 others(119): Show c.5186_*5187insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGG TCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTC AGGTTTAGGGTGAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4877		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134677	C C	CAGGGTCA others(101): Show CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGG GTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0002 a0001c0025t0002 a0001c0002t0002 a0001c0025t0002	a0001c0002t0002g0281 a0001c0025t0002g0282 a0001c0002t0002g0281 a0001c0025t0002g0282	2	372	0.0054	108	c.51 others(119): Show c.5186_*5187insAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC AGGTTTAGGGTGAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4877		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(101): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTCAGGGTGAGGGTGAGG GTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01074.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0123 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0002t0010g0123 a0001c0002t0010g0294 a0001c0002t0010g0295	3	372	0.0081	108	c.52 others(119): Show c.5204_*5205insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTC AGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(101): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	372	0.0027	108	c.52 others(119): Show c.5204_*5205insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTG AGGGTGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134695	T T	TAGGGTCA others(101): Show TAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCA GGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01975.hp2 others(10): Show HG00423.hp1 HG00597.hp2 HG01975.hp2 HG02080.hp1 NA18985.hp2 NA18989.hp2 NA19055.hp2 NA19056.hp2 NA19065.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0014 a0003c0007 others(1): Show a0001c0002 a0001c0014 a0003c0007 a0003c0017	a0001c0002t0002 a0001c0014t0002 a0003c0007t0002 others(1): Show a0001c0002t0002 a0001c0014t0002 a0003c0007t0002 a0003c0017t0002	a0001c0002t0002g0001 a0001c0002t0002g0019 a0001c0002t0002g0272 others(8): Show a0001c0002t0002g0001 a0001c0002t0002g0019 a0001c0002t0002g0272 a0001c0002t0002g0279 a0001c0002t0002g0290 a0001c0002t0002g0301 a0001c0002t0002g0316 a0001c0014t0002g0321 a0001c0014t0002g0323 a0003c0007t0002g0022 a0003c0017t0002g0310	13	372	0.0350	108	c.52 others(119): Show c.5204_*5205insAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGG TCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTG AGGGTGAGGGTGAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4895		chr21	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)