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
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(193): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0013 a0002c0005t0001g0013	1	391	0.0026	200	c.36 others(211): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(193): Show TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	391	0.0026	200	c.36 others(211): Show c.3604_*3605insGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
BFSP2_chr3_133395056_133480208	133425982	A A	AGGGGGAG others(193): Show AGGGGGAGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGG GAAGGGGAGGGGAAGAGGGGAGGGGAAGGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGG GAGGGGAAGGGGAGGGGAGGGGGAAGGGGAGGGGAGGGGAAGGCAGGGCA G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	276	0.0036	200	c.490 others(219): Show c.490-21333_490-21332insGGGAGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGAGGGGAGGGGAAGG GGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGAGGGGAAGGG GAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAAGGGG AGGGGAGGGGAAGGCAGGGCAGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C16orf95_chr16_87297814_87322392	87304305	T T	TGCCCATC others(193): Show TGCCCATCCTCTAAGGCTGGGATCCAGCTGTGGGCCACTGTGCCCGGCCT CGCCCATCCTCTAAGGCTGGGATCCAGCTGTGGGCCACTGTGCCCGGCCT CGCCCATCCTCTAAGGCTGGGATCCAGCTGTGGGCCACTGTGCCCGGCCT CGCCCATCCTCTAAGGCTGGGATCCAGCTGTGGGCCACTGTGCCCGGCCT C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG03130.hp1 HG01891.hp2 HG02280.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0027 a0001c0002t0004g0027	3	458	0.0066	200	c.702 others(217): Show c.702-1231_702-1230insGAGGCCGGGCACAGTGGCCCACAGCTGG ATCCCAGCCTTAGAGGATGGGCGAGGCCGGGCACAGTGGCCCACAGCTGG ATCCCAGCCTTAGAGGATGGGCGAGGCCGGGCACAGTGGCCCACAGCTGG ATCCCAGCCTTAGAGGATGGGCGAGGCCGGGCACAGTGGCCCACAGCTGG ATCCCAGCCTTAGAGGATGGGC	C16orf95	ENSG00000260456.7	transcript	ENST00000567970.2	protein_coding	6/6			chr16	TogoVar
C17orf99_chr17_78141385_78171297	78143074	A A	ACAGGTTC others(193): Show ACAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTGAGTAGCTGGACTAGA GGCACCTACCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTTGTT TTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTTGCTCTTGTTG CCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0320 a0001c0003t0001g0320	1	446	0.0022	200	c.-33 others(211): Show c.-3334_-3333insCAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTG AGTAGCTGGACTAGAGGCACCTACCACCATGCCTGGCTAATTTTTTGTTT TGTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGA GTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCA CTGCAACCTCTGCCTC	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		3310		chr17	TogoVar
C22orf42_chr22_32144006_32164303	32145779	A A	AATATAAT others(193): Show AATATAATATATTAATATAATTATATATTATATATTATATTATATAATAT ATTAATATAATTATATATTATATATTATATTATATAATATATTAATATAA TTATATATTATATATTATATTATATAATATATTAATATAATTATATATTA TATATTATATTATATAATATATTAATATAATTATATATTATATATTATAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01255.hp2 HG02738.hp1 others(2): Show HG00280.hp1 HG01255.hp2 HG02738.hp1 HG02970.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0017 a0002c0002t0002g0040 a0002c0002t0002g0011 a0002c0002t0002g0017 a0002c0002t0002g0040	5	398	0.0126	200	c.37 others(211): Show c.3760_*3761insAATATAATATATAATATATAATTATATTAATATA TTATATAATATAATATATAATATATAATTATATTAATATATTATATAATA TAATATATAATATATAATTATATTAATATATTATATAATATAATATATAA TATATAATTATATTAATATATTATATAATATAATATATAATATATAATTA TATTAATATATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3226		chr22	TogoVar
C5orf15_chr5_133950510_133973625	133971061	C C	CGGGAGGC others(193): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGGGAGGCTG AGGCAGGAGAATTGCTTGAACCCAGGAGGCGGGGAGGCTGAGGCAGGAGA ATTGCTTGAACCCAGGAGGCGGGGAGGCTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGCGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0105 a0001c0001t0002g0010 a0001c0001t0002g0105	2	438	0.0046	200	c.-24 others(211): Show c.-2478_-2477insCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAG CCTCCCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCGCC TCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCGCCTCCTGGGTTC AAGCAATTCTCCTGCCTCAGCCTCCCCGCCTCCTGGGTTCAAGCAATTCT CCTGCCTCAGCCTCCC	C5orf15	ENSG00000113583.8	transcript	ENST00000231512.5	protein_coding		2437		chr5	TogoVar
CA10_chr17_51625320_52163714	51717841	A A	ACATGTAT others(193): Show ACATGTATATATACATGTATACATATATACACATATATATGTGTATATAT ATACATGTATACATATATACACATATATATGTGTATATATATATACACGT ATATATATGTGTATATATACACGTATATATATATGTATATATATACGTGT ATGTATATATGTATATATATACGTGTATGTATATATGTATATATATACGT G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	156	0.0064	200	c.465 others(219): Show c.465+29791_465+29792insCACGTATATATATACATATATACATA CACGTATATATATACATATATACATACACGTATATATATACATATATATA TACGTGTATATATACACATATATATACGTGTATATATATATACACATATA TATGTGTATATATGTATACATGTATATATATACACATATATATGTGTATA TATGTATACATGTATATATACATG	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CACNA1H_chr16_1148106_1226768	1185638	C C	CGAGTAGA others(193): Show CGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACAGGGCAGG TGAGTAGACGGTCAGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0058 a0058	a0058c0069 a0058c0069	a0058c0069t0033 a0058c0069t0033	a0058c0069t0033g0049 a0058c0069t0033g0049	1	338	0.0030	200	c.300 others(217): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACAGGGCAGGTGAGTAGACGGTCAGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCAGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596192	G G	GGGGGGCA others(193): Show GGGGGGCAGGGCGGAGAGAGATGGGGAGCAGGGCGGAGAGAGATGGGGGG GCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGCAGG GCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGACGGA GGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAGGGCGGAGGGAGA T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0069 a0001c0002t0011g0069	1	236	0.0042	200	c.237 others(217): Show c.237-1954_237-1953insCAGGGCGGAGAGAGATGGGGAGCAGGGC GGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAG AGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGAT GGGGGAGCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGG GCAGGGCGGAGGGAGATGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAMKK1_chr17_3855315_3898053	3868071	A A	AGTCTAAC others(193): Show AGTCTAACTGATACACAGGATCTGGGGGAGAAGCAGGCGCCGTCTAACTG ATACACAGGATCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGC TCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAG AAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGC C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0163 a0001c0002t0005g0163	1	446	0.0022	200	c.134 others(219): Show c.1341+1415_1341+1416insGGCGCCTGCTTCTCCCCCAGAGCCCA CGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTT AGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTTAGACGGCGCC TGCTTCTCCCCCAGATCCTGTGTATCAGTTAGACGGCGCCTGCTTCTCCC CCAGATCCTGTGTATCAGTTAGAC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(193): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTGTGTATGTGTGTACACACACGCGTGTGTATGTGTGTACACACACGCGT GTGTATGTGTGTACACACACGCGTGTGTATGTGTGTACACACACACGCGT A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	366	0.0027	200	c.645 others(217): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGT GTACACACACGCGTGTGTATGTGTGTACACACACGCGTGTGTATGTGTGT ACACACACACGCGTATATGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38735727	G G	GGGGGCGG others(193): Show GGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGG CGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGG C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0198	1	342	0.0029	200	c.158 others(217): Show c.1584-184_1584-183insGCCCCCAGAACCCCCGCCCCGCCCCGCC CCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCC CCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCAG AACCACCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCCCAG AACCCCCGCCCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(193): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAA G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0360 a0002c0003t0006g0360	1	364	0.0028	200	c.234 others(217): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCCTC TCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(193): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0268 a0002c0003t0001g0268	1	364	0.0028	200	c.234 others(217): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTTCCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(193): Show AAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAA G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	364	0.0028	200	c.234 others(217): Show c.234+6868_234+6869insCTTCTTCTTCCTCTCCTTCTCCTTCTCC TTCTTCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621181	T T	TTATATAA others(193): Show TTATATAAATATATCTATATATTATATATAGATATATTTATATAAATATA TCTATATATTATATATAGATATATTTATATAGATATATTTATATAGATAT ATTTATATAGATATATCTATATAGATATATTTATATAGATATATTTATAT AGATATATCTATATAGATATATTTATATAGATATATTTATATAGATATAT C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	206	0.0049	200	c.264 others(219): Show c.2648+3501_2648+3502insAATATATCTATATATTATATATAGAT ATATTTATATAAATATATCTATATATTATATATAGATATATTTATATAGA TATATTTATATAGATATATTTATATAGATATATCTATATAGATATATTTA TATAGATATATTTATATAGATATATCTATATAGATATATTTATATAGATA TATTTATATAGATATATCTATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88894500	C C	CGCACACA others(193): Show CGCACACATGCACGCACACATGCATACATATACACATGCACACAATGTAC ACACATGCACGCACACATGCATACATATACACATGCACACAATGTACACA CATGCACACACACATGCATACATATTCACATGCACACAATGTACACACAT GCACGCACACATGCACGCACACATGCATACATATACACATGCACACAATG T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0029 a0001c0020t0029	a0001c0020t0029g0111 a0001c0020t0029g0111	1	284	0.0035	200	c.380 others(217): Show c.380-2016_380-2015insACATTGTGTGCATGTGTATATGTATGCA TGTGTGCGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGAAT ATGTATGCATGTGTGTGTGCATGTGTGTACATTGTGTGCATGTGTATATG TATGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTAT GCATGTGTGCGTGCATGTGTGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC127_chr5_191868_223153	194146	A A	ACTGTCCT others(193): Show ACTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCAGACAT TCTGTCCTGTGGTCTCACTGCCCCCCGCCGTCTGCTTTCTGAGCTGACAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02886.hp2 others(3): Show HG01891.hp2 HG02615.hp1 HG02886.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0229 a0001c0002t0230 others(1): Show a0001c0002t0015 a0001c0002t0229 a0001c0002t0230 a0001c0002t0231	a0001c0002t0015g0045 a0001c0002t0015g0292 a0001c0002t0229g0293 others(2): Show a0001c0002t0015g0045 a0001c0002t0015g0292 a0001c0002t0229g0293 a0001c0002t0230g0290 a0001c0002t0231g0291	6	406	0.0148	200	c.11 others(213): Show c.11150_*11151insAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCTGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAGAATGTCAGCTCAGAAAGCAGACGGCGGGGGGC AGTGAGACCACAGGACAG	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding		2721		chr5	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGCCCC others(193): Show GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC T	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	398	0.0025	200	c.666 others(215): Show c.666+432_666+433insCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCTGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC30_chr1_42458286_42662190	42461713	A A	ATTTTTTT others(193): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0292 a0001c0004t0009g0292	1	324	0.0031	200	c.-22 others(211): Show c.-2277_-2276insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAAT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding		1572		chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(193): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCT TCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	410	0.0024	200	c.-22 others(211): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAG GGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(193): Show AAAAAATATATATATATATATATACTCATATATATATATATATATATACT CATATATATATATATATATACTCATATATATATATATACTCATATATATA TATATACTCATATATATATATATACTCATATATATATATACTCATATATA TATATATACATATATATATATATATATATATATATATATATATATACTCA T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0068 a0003c0004t0007g0068	1	370	0.0027	200	c.232 others(221): Show c.2326-11614_2326-11613insAAAATATATATATATATATATACT CATATATATATATATATATATACTCATATATATATATATATATACTCATA TATATATATATACTCATATATATATATATACTCATATATATATATATACT CATATATATATATACTCATATATATATATATACATATATATATATATATA TATATATATATATATATATACTCATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAATATA others(193): Show AAAATATATATATATATATATATATACTCATATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATATACTCA TATATATATATATATATATATACTCATATATATATATATATATATATACT CATATATATATATATATATATACTCATATATATATATATATATATATACT C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0048 a0003c0004t0007g0048	1	370	0.0027	200	c.232 others(221): Show c.2326-11614_2326-11613insAATATATATATATATATATATATA CTCATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATATATATATATACTCA TATATATATATATATATATATACTCATATATATATATATATATATACTCA TATATATATATATATATATATACTCA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501836	T T	AATATATA others(193): Show AATATATATATATATATATATATACTCATATATATATATATACTCATATA TATATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATATATATATACTCATA TATATATATATATATATATACTCATATATATATATATATATATATACTCA T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0019 a0003c0004t0019	a0003c0004t0019g0044 a0003c0004t0019g0044	1	370	0.0027	200	c.232 others(221): Show c.2326-11614_2326-11613insAATATATATATATATATATATATA CTCATATATATATATATACTCATATATATATATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATATACTCA TATATATATATATATATATACTCATATATATATATATATATATATACTCA TATATATATATATATATATATACTCA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(193): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 NA18612.hp2 HG03704.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0027 a0002c0002t0002 a0002c0002t0027	a0002c0002t0002g0034 a0002c0002t0027g0003 a0002c0002t0002g0034 a0002c0002t0027g0003	2	442	0.0045	200	c.27 others(211): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(193): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02976.hp2 HG01099.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0079 a0002c0002t0002g0017 a0002c0002t0002g0079	2	442	0.0045	200	c.27 others(211): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATG others(193): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0008 a0002c0002t0008g0008	1	442	0.0023	200	c.27 others(211): Show c.2752_*2753insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CATATATG others(193): Show CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	442	0.0023	200	c.27 others(211): Show c.2752_*2753insATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(193): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCC CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTC T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0031 a0001c0001t0041g0031	1	256	0.0039	200	c.-45 others(221): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCC TCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61943045	C C	CACGAGGA others(193): Show CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0022 a0002c0002t0005g0022	1	106	0.0094	200	c.61 others(211): Show c.6102_*6103insACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2429		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943828	C C	CGCCCCTT others(193): Show CGCCCCTTCTCACCAATGATGAGGAACATTGAGACTGTCTGCACCATGGC TGCCCCTTCTCCCCAACAATGAGGAACACTGTGACTGTCTGCACCGTGGC CGCCCCTTCTGACTGATGATGAGGAACATTGCGACTGTCTGCACCGTGGC CGCCCCTTCTCACCAATGATGATGAGCATTGCAGCTGTCTGGACCATGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02922.hp1 HG03209.hp1 HG01255.hp2 HG02922.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0046 a0001c0007t0010 a0001c0007t0046	a0001c0007t0010g0018 a0001c0007t0010g0044 a0001c0007t0046g0066 a0001c0007t0010g0018 a0001c0007t0010g0044 a0001c0007t0046g0066	3	106	0.0283	200	c.68 others(211): Show c.6885_*6886insGCCCCTTCTCACCAATGATGAGGAACATTGAGAC TGTCTGCACCATGGCTGCCCCTTCTCCCCAACAATGAGGAACACTGTGAC TGTCTGCACCGTGGCCGCCCCTTCTGACTGATGATGAGGAACATTGCGAC TGTCTGCACCGTGGCCGCCCCTTCTCACCAATGATGATGAGCATTGCAGC TGTCTGGACCATGGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3212		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944225	G G	GACGAGGA others(193): Show GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0055 a0001c0001t0040g0055	1	106	0.0094	200	c.72 others(211): Show c.7282_*7283insACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3609		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945018	C C	CGACGACG others(193): Show CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCAC CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCAC TGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTTCTCAC CGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCAC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0087 a0002c0002t0041g0087	1	106	0.0094	200	c.80 others(211): Show c.8075_*8076insGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCTTCTCACTGACGATGAGGAGCACTGCGACTGTCTGCACCGTG GCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTG GCCGCCCCTTCTCACT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4402		chr20	TogoVar
CENPJ_chr13_24877279_24927861	24882005	G G	GATACATC others(193): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0055 a0001c0002t0007g0055	1	440	0.0023	200	c.11 others(211): Show c.1171_*1172insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		273		chr13	TogoVar
CEP72_chr5_607340_658553	628866	C C	CTTCTGGA others(193): Show CTTCTGGAGAACTCAGGTTGCCGTCCCCGGGGAGTGTTCCCAGGACCCAG CCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCCAGGGA GTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAG GTCGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCA G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	91	0.0110	200	c.512 others(217): Show c.512+4287_512+4288insTTCTGGAGAACTCAGGTTGCCGTCCCCG GGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAAC TCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTG TGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCCGGGGAGTGTTCCCAGGA CCCAGCCCCCTTCTTTGTGCAG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11			chr5	TogoVar
CFAP52_chr17_9571642_9648447	9630990	A A	AAAAGAAA others(193): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	316	0.0032	200	c.117 others(219): Show c.1175-1857_1175-1856insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631068	A A	AAGAAAGA others(193): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAAGAGAAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	316	0.0032	200	c.117 others(219): Show c.1175-1805_1175-1804insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAGAAGAGAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP61_chr20_20047532_20365698	20337382	A A	ATGGATGG others(193): Show ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0105 a0002c0009t0001g0105	1	236	0.0042	200	c.342 others(219): Show c.3423-4440_3423-4439insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357713	G G	GTGAGGGG others(193): Show GTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGA GGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp1 HG03834.hp1 HG02257.hp1 HG02809.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0001c0001t0002 a0002c0002t0005	a0001c0001t0002g0190 a0002c0002t0005g0114 a0002c0002t0005g0137 a0001c0001t0002g0190 a0002c0002t0005g0114 a0002c0002t0005g0137	3	236	0.0127	200	c.351 others(219): Show c.3514-2479_3514-2478insGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGA GGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357749	C C	CACTGAGG others(193): Show CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCA T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03209.hp1 HG03486.hp2 HG01361.hp2 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0003t0003g0142 a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0003t0003g0142	3	236	0.0127	200	c.351 others(219): Show c.3514-2460_3514-2459insCTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGG TCACATTGAGGAGAGGTGGTCATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357989	T T	TAGTGTGA others(193): Show TAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGG AGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0105 a0002c0009t0001g0105	1	236	0.0042	200	c.351 others(219): Show c.3514-2199_3514-2198insCTGTGAGGGGAGGTGGTCACATTGAG GAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20358211	G G	GAGGGGAG others(193): Show GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGAGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGA GGTGGGCACACTGTGAGGGGTGGTAGTCACACTGAGAGGAGGTGGTCACA C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG01517.hp2 HG01192.hp2 HG01346.hp1 HG01517.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0004 a0001c0003 a0002c0002 a0002c0004	a0001c0003t0001 a0002c0002t0001 a0002c0004t0001 a0001c0003t0001 a0002c0002t0001 a0002c0004t0001	a0001c0003t0001g0096 a0002c0002t0001g0086 a0002c0004t0001g0065 a0001c0003t0001g0096 a0002c0002t0001g0086 a0002c0004t0001g0065	3	236	0.0127	200	c.351 others(219): Show c.3514-1999_3514-1998insAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGGCACACTGTGAGGGGTGGTAGT CACACTGAGAGGAGGTGGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP77_chr9_132405211_132578319	132519499	C C	CAGGGATG others(193): Show CAGGGATGGATGGGTGGGTCGGTGGGTGGATGGATGGATGGATGAATGGA TGGATGGGTGGGTGAATGGATGGATGGGTGGGTGGCTGGGCAAGTGGATG GATAGTTGGGTGGATGGATGGTTAGGTGGATGGATGGGTGGGTGGGTGGG TAGATGGATGGATGGATGAGTGGGTGGGTGGATGCATGGATGGATGGGTG G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02647.hp2 HG02145.hp1 HG02486.hp1 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0167 a0001c0004t0001g0191 a0001c0004t0001g0270 a0001c0004t0001g0167 a0001c0004t0001g0191 a0001c0004t0001g0270	3	322	0.0093	200	c.525 others(219): Show c.525-18101_525-18100insGGGATGGATGGGTGGGTCGGTGGGTG GATGGATGGATGGATGAATGGATGGATGGGTGGGTGAATGGATGGATGGG TGGGTGGCTGGGCAAGTGGATGGATAGTTGGGTGGATGGATGGTTAGGTG GATGGATGGGTGGGTGGGTGGGTAGATGGATGGATGGATGAGTGGGTGGG TGGATGCATGGATGGATGGGTGGA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132519499	C C	CATGGATG others(193): Show CATGGATGGATGGGTGGGTCGGTGGGTGGATGGATGGATGGATGAATGGA TGGATGGGTGGGTGAATGGATGGATGGGTGGGTGGCTGGGCAAGTGGATG GATAGTTGGGTGGATGGATGGTTAGGTGGATGGATGGGTGGGTGGGTGGG TAGATAGATGGATGGATGAGTGGGTGGGTGGATGCATGGATGGATGGGTG G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19074.hp2 NA19078.hp1 NA19000.hp2 NA19074.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0121	3	322	0.0093	200	c.525 others(219): Show c.525-18094_525-18093insATGGGTGGGTCGGTGGGTGGATGGAT GGATGGATGAATGGATGGATGGGTGGGTGAATGGATGGATGGGTGGGTGG CTGGGCAAGTGGATGGATAGTTGGGTGGATGGATGGTTAGGTGGATGGAT GGGTGGGTGGGTGGGTAGATAGATGGATGGATGAGTGGGTGGGTGGATGC ATGGATGGATGGGTGGATGGATGG	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132519499	C C	CATGGATG others(193): Show CATGGATGGATGGGTGGGTCGGTGGGTGGATGGATGGATGGATGAATGGA TGGATGGGTGGGTGAATGGATGGATGGGTGGGTGGCTGGGCAAGTGGATG GATAGTTGGGTGGATGGATGGTTAGGTGGATGGATGGGTGGGTGGGTGGG TAGATGGATGGATGGATGAGTGGGTGGGTGGATGCATGGATGGATGGGTG G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(300): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0016 a0002c0003 a0002c0007 a0002c0017 a0002c0019 a0003c0010 a0003c0011 a0004c0009 a0004c0014 a0005c0006 a0006c0018 a0008c0013 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0008 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0008t0002 a0001c0016t0001 a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0002c0007t0002 a0002c0017t0001 a0002c0019t0001 a0003c0010t0001 a0003c0010t0002 a0003c0011t0001 a0004c0009t0001 a0004c0009t0002 a0004c0014t0002 a0005c0006t0001 a0006c0018t0001 a0008c0013t0001 a0009c0012t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(300): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0321 a0001c0001t0002g0007 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0189 a0001c0001t0002g0217 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0309 a0001c0001t0002g0320 a0001c0001t0003g0135 a0001c0001t0003g0282 a0001c0001t0004g0075 a0001c0001t0004g0290 a0001c0001t0005g0192 a0001c0001t0006g0296 a0001c0001t0007g0058 a0001c0001t0010g0224 a0001c0001t0011g0054 a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0035 a0001c0002t0001g0041 a0001c0002t0001g0048 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0076 a0001c0002t0001g0082 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0116 a0001c0002t0001g0134 a0001c0002t0001g0150 a0001c0002t0001g0183 a0001c0002t0001g0203 a0001c0002t0001g0208 a0001c0002t0001g0216 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0252 a0001c0002t0001g0258 a0001c0002t0001g0275 a0001c0002t0001g0283 a0001c0002t0001g0287 a0001c0002t0001g0302 a0001c0002t0001g0305 a0001c0002t0001g0314 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0063 a0001c0002t0002g0126 a0001c0002t0002g0148 a0001c0002t0002g0176 a0001c0002t0002g0243 a0001c0002t0002g0272 a0001c0002t0002g0276 a0001c0002t0002g0291 a0001c0002t0002g0301 a0001c0002t0002g0306 a0001c0002t0003g0149 a0001c0002t0003g0171 a0001c0002t0004g0110 a0001c0002t0009g0315 a0001c0004t0001g0147 a0001c0004t0002g0188 a0001c0004t0002g0201 a0001c0004t0002g0249 a0001c0004t0002g0250 a0001c0004t0002g0281 a0001c0004t0002g0317 a0001c0004t0002g0319 a0001c0004t0002g0322 a0001c0004t0003g0285 a0001c0004t0008g0129 a0001c0005t0001g0318 a0001c0005t0002g0157 a0001c0005t0002g0159 a0001c0005t0002g0166 a0001c0005t0005g0158 a0001c0008t0002g0161 a0001c0008t0002g0163 a0001c0008t0002g0164 a0001c0016t0001g0143 a0002c0003t0001g0008 a0002c0003t0001g0015 a0002c0003t0001g0018 a0002c0003t0001g0031 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0072 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0097 a0002c0003t0001g0100 a0002c0003t0001g0104 a0002c0003t0001g0112 a0002c0003t0001g0114 a0002c0003t0001g0124 a0002c0003t0001g0204 a0002c0003t0001g0205 a0002c0003t0001g0207 a0002c0003t0001g0209 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0002c0003t0001g0219 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0242 a0002c0003t0001g0262 a0002c0003t0001g0269 a0002c0003t0001g0286 a0002c0003t0001g0308 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0316 a0002c0003t0002g0034 a0002c0003t0002g0040 a0002c0003t0002g0055 a0002c0003t0002g0180 a0002c0003t0002g0229 a0002c0003t0002g0232 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0007t0001g0160 a0002c0007t0001g0165 a0002c0007t0002g0156 a0002c0017t0001g0313 a0002c0019t0001g0111 a0003c0010t0001g0266 a0003c0010t0001g0274 a0003c0010t0002g0195 a0003c0011t0001g0185 a0003c0011t0001g0226 a0003c0011t0001g0259 a0004c0009t0001g0247 a0004c0009t0001g0261 a0004c0009t0002g0001 a0004c0014t0002g0182 a0005c0006t0001g0052 a0005c0006t0001g0064 a0005c0006t0001g0065 a0005c0006t0001g0077 a0006c0018t0001g0186 a0008c0013t0001g0172 a0009c0012t0002g0187	303	322	0.9410	200	c.525 others(219): Show c.525-18094_525-18093insATGGGTGGGTCGGTGGGTGGATGGAT GGATGGATGAATGGATGGATGGGTGGGTGAATGGATGGATGGGTGGGTGG CTGGGCAAGTGGATGGATAGTTGGGTGGATGGATGGTTAGGTGGATGGAT GGGTGGGTGGGTGGGTAGATGGATGGATGGATGAGTGGGTGGGTGGATGC ATGGATGGATGGGTGGATGGATGG	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132519499	C C	CATGGATG others(193): Show CATGGATGGATGGGTGGGTTGGTGGGTGGATGGATGGATGGATGAATGGA TGGATGGGTGGGTGAATGGATGGATGGGTGGGTGGCTGGGCAAGTGGATG GATAGTTGGGTGGATGGATGGTTAGGTGGATGGATGGGTGGGTGGGTGGG TAGATGGATGGATGGATGAGTGGGTGGGTGGATGCATGGATGGATGGGTG G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG01884.hp1 HG03516.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0015 a0001c0004 a0007c0015	a0001c0004t0002 a0007c0015t0002 a0001c0004t0002 a0007c0015t0002	a0001c0004t0002g0178 a0007c0015t0002g0214 a0001c0004t0002g0178 a0007c0015t0002g0214	2	322	0.0062	200	c.525 others(219): Show c.525-18094_525-18093insATGGGTGGGTTGGTGGGTGGATGGAT GGATGGATGAATGGATGGATGGGTGGGTGAATGGATGGATGGGTGGGTGG CTGGGCAAGTGGATGGATAGTTGGGTGGATGGATGGTTAGGTGGATGGAT GGGTGGGTGGGTGGGTAGATGGATGGATGGATGAGTGGGTGGGTGGATGC ATGGATGGATGGGTGGATGGATGG	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CHMP1A_chr16_89639435_89662708	89653456	T T	TAAAAATA others(193): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	392	0.0026	200	c.27+ others(213): Show c.27+447_27+448insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	2/6			chr16	TogoVar
CHSY1_chr15_101170727_101257048	101185412	A A	ACCCTCCA others(193): Show ACCCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACTCTCCATG GAGCACCCTCCATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTC CATCCTCCTTCCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTT CCCTGTGAACACTCTCCATGGAGCACCCTCCATCCCCCTTCCCTGTGAAC G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0057 a0006c0022t0057	a0006c0022t0057g0323 a0006c0022t0057g0323	1	422	0.0024	200	c.817 others(217): Show c.817-6433_817-6432insCGTTCACAGGGAAGGGGGATGGAGGGTG CTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAG AGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAGGGCGTTCACA GGGAAGGGGGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGG ATGGAGGGTGCTCCATGGAGGG	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CHSY1_chr15_101170727_101257048	101185412	A A	ACCCTCCA others(193): Show ACCCTCCATGGAGCACCCTCCATCCTCCTTCCCTGTGAACACTCTCCATG GAGCACCCTCCATCCCCCTTCCCTGTGAACGCCCTCCATGGAGCACCCTC CATCCTCCTTCCCTGTGAACACTCTCCATGGAGCACCCTCCATCCTCCTT CCCTGTGAACGCCCTCCATGGAGCACCCTCCATCCCCCTTCCCTGTGAAC G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0173 a0001c0003t0004g0173	1	422	0.0024	200	c.817 others(217): Show c.817-6433_817-6432insCGTTCACAGGGAAGGGGGATGGAGGGTG CTCCATGGAGGGCGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAG AGTGTTCACAGGGAAGGAGGATGGAGGGTGCTCCATGGAGGGCGTTCACA GGGAAGGGGGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGG ATGGAGGGTGCTCCATGGAGGG	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)