Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(293): Show AAAAAATATATATATATATATATATATATATATATATATATATATACACA CTCATATATATATATATATATACTCATATATATATATATATATACTCATA TATATATATATATACTCATATATATATATATACTCATATATATATATATA TACTCATATATATATATATACTCATATATATATATACTCATATATATATA TACTCATATATATATATATATACACTCATATATATATATATACACTCATA TATATATATATATATACTCATATATATATATATATATACTCATATATATA T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0016 a0002c0003t0006g0016	1	370	0.0027	300	c.232 others(321): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATATATATATACACACTCATATATATATATATATATACTCA TATATATATATATATATACTCATATATATATATATATACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATACTCATA TATATATATACTCATATATATATATACTCATATATATATATATATACACT CATATATATATATATACACTCATATATATATATATATATACTCATATATA TATATATATATACTCATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(293): Show TATATATATATATATATATATATATATATACACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATATATACTCATATA TATATATACTCATATATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATATACTCATATATATATATACTCA TATATATATATATATATATATACTCATATATATATATATATATATATACT C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01952.hp2 others(1): Show HG00738.hp2 HG01167.hp2 HG01952.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0104 a0002c0002t0003g0113 a0002c0002t0003g0114 others(1): Show a0002c0002t0003g0104 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115	4	370	0.0108	300	c.232 others(321): Show c.2326-11590_2326-11589insTATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA CTCATATATATATATATATATATATACTCATATATATATATATATATATA TACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(293): Show TATATATATATATATATATATATATATATATACACTCATATATATATATA TACTCATATATATATATATATACTCATATATATATATATATACTCATATA TATATATACTCATATATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATATACTCATATATATATATACTCA TATATATATATATATATATATACTCATATATATATATATATATATATACT C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0119 a0002c0002t0003g0119	1	370	0.0027	300	c.232 others(321): Show c.2326-11590_2326-11589insTATATATATACACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA CTCATATATATATATATATATATATACTCATATATATATATATATATATA TACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(293): Show TATATATATATATATATATATATATATATATACACTCATATATATATATA TACTCATATATATATATATATACTCATATATATATATATATATACTCATA TATATATATACTCATATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATATACTCATATATATATATACTCA TATATATATATATATATATATACTCATATATATATATATATATATATACT C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0363 a0002c0002t0003g0363	1	370	0.0027	300	c.232 others(321): Show c.2326-11590_2326-11589insTATATATATACACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATATATACT CATATATATATATACTCATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA CTCATATATATATATATATATATATACTCATATATATATATATATATATA TACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(293): Show TATATATATATATATATATATATATATATATACACTCATATATATATATA TACTCATATATATATATATATACTCATATATATATATATATATACTCATA TATATATATACTCATATATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATATACTCATATATATATATACT CATATATATATATATATATATACTCATATATATATATATATATATATACT C	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18986.hp2 NA18995.hp2 HG03710.hp2 NA18986.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0102 a0002c0002t0003g0366 a0002c0002t0003g0367 a0002c0002t0003g0102 a0002c0002t0003g0366 a0002c0002t0003g0367	3	370	0.0081	300	c.232 others(321): Show c.2326-11590_2326-11589insTATATATATACACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATATATACT CATATATATATATACTCATATATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATATATATACTCATATATATATATATATATATA TACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(293): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	442	0.0023	300	c.27 others(311): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(293): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	442	0.0023	300	c.27 others(311): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(293): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	300	c.27 others(311): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(293): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA18612.hp1 HG02615.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0010g0013 a0001c0001t0001g0002 a0001c0001t0010g0013	2	442	0.0045	300	c.27 others(311): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(293): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	300	c.27 others(311): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(293): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	442	0.0023	300	c.27 others(311): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(293): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	442	0.0023	300	c.27 others(311): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH4_chr20_61247261_61945617	61943317	T T	GGCACCGT others(293): Show GGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0068 a0002c0002t0004g0068	1	106	0.0094	300	c.63 others(311): Show c.6373_*6374insGGCACCGTGGCCGCCCCCTCTCACCGACGACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACCACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAG GAGCACTGCGACCGTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2700		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944464	T T	TTCTCACT others(293): Show TTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC CTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0087 a0002c0002t0041g0087	1	106	0.0094	300	c.75 others(311): Show c.7521_*7522insTCTCACTGACGATGAGGAGCATTGCGACTGTATG CACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTG CACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGTATG CACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTG CACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTG CACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTG CACCGTGGCCGCCCCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3848		chr20	TogoVar
CDK14_chr7_90591321_91215590	91058224	T T	TAAGAATG others(293): Show TAAGAATGCTTGTGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCAGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19240.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0128 a0001c0001t0010g0075 a0001c0001t0004g0128 a0001c0001t0010g0075	2	168	0.0119	300	c.110 others(321): Show c.1105+12274_1105+12275insGTGAGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAGCTTGCAGTGAGCGGAG ATCGCGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAGAATGCTT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CELF2_chr10_11012872_11341675	11283965	G G	GGGTGGAT others(293): Show GGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTG GTGGGGGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTG TGGTAAGTGGATGATGGATGGAGGGGTGGGTGGATGATGGATGAGTGTGT GGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGG TGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGT GGTGGGTGGATGAGGGATGGAGGGGTGGGTGGATGATGGATGACTGTGGT A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0014 a0001c0003t0005 a0001c0002t0014 a0001c0003t0005	a0001c0002t0014g0037 a0001c0003t0005g0064 a0001c0002t0014g0037 a0001c0003t0005g0064	2	194	0.0103	300	c.842 others(317): Show c.842-4444_842-4443insGGGATGAGTGTGTGGTGGGTGGATGAGG GATGAGTGTGTGGTGGGGGGATGAGGGATGAGTGTGTGGTGGGTGGATGA GGGATGAGTGTGTGGTAAGTGGATGATGGATGGAGGGGTGGGTGGATGAT GGATGAGTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATG AGGGATGAGTGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAG GGATGAGTGTGTGGTGGGTGGATGAGGGATGGAGGGGTGGGTGGATGATG GATGACTGTGGTAGGTGGATGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(293): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	388	0.0026	300	c.487 others(317): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATATATAGAATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CFAP46_chr10_132803392_132947570	132813508	T T	TCCCTGCA others(293): Show TCCCTGCACACACCTGCCCCTGCAGCCCCACCCCTGCACACACCTGCCCC TGCAGCCCCGCCCCTGCACACACCTGCTCCTGCAGCCCCGCCCCTGCACA CACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCG CCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCC TGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCGCCCCTGCACA CACCTGCCCCTGCAGCCCCGCCCCTGCACACACCTGCCCCTGCAGCCCCG C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG02615.hp1 HG02630.hp2	a0010 a0022 a0010 a0022	a0010c0011 a0022c0041 a0010c0011 a0022c0041	a0010c0011t0001 a0022c0041t0001 a0010c0011t0001 a0022c0041t0001	a0010c0011t0001g0130 a0022c0041t0001g0168 a0010c0011t0001g0130 a0022c0041t0001g0168	2	246	0.0081	300	c.738 others(317): Show c.7389-612_7389-611insGCGGGGCTGCAGGGGCAGGTGTGTGCAG GGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAG GTGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCT GCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAG GGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGCGGGGCTGCAGGAGCAG GTGTGTGCAGGGGCGGGGCTGCAGGGGCAGGTGTGTGCAGGGGTGGGGCT GCAGGGGCAGGTGTGTGCAGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(293): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCG C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0159 a0005c0004t0001g0159	1	428	0.0023	300	c.217 others(315): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCCG CGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(293): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATA TACGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	372	0.0027	300	c.894 others(315): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACAC GTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575583	T T	TGTGTGTA others(293): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACA CGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATATA C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0002 a0013c0018t0002	a0013c0018t0002g0274 a0013c0018t0002g0274	1	372	0.0027	300	c.894 others(315): Show c.894+687_894+688insGTATATGAGTATATATACGTGTATATACAC ACGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575631	T T	TATATATA others(293): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACA C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03942.hp2 HG03831.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0273 a0001c0001t0006g0284 a0001c0001t0006g0273 a0001c0001t0006g0284	2	372	0.0054	300	c.894 others(315): Show c.894+639_894+640insGTGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACAT GTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575788	G G	GAGTATAT others(293): Show GAGTATATACACGCGTATACTCATATACATGTGTATATACACGCGTATAT ATACTCATATACATGTGTATATACACGCGTATATATACTCATATACATGT GTATATACACGCGTATATATACTCATATACATGTGTATATACACGCGTAT ATATACTCATATACATGTGTATATACACGCGTATATATACTCATATACAT GTGTATATACACGCGTATATATACTCATATACATGTGTATATACACGCGT ATATATACTCATATACATGTGTATATACACGCGTATATATACTCATATAC A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0329 a0001c0001t0004g0329	1	372	0.0027	300	c.894 others(315): Show c.894+482_894+483insTGTATATGAGTATATATACGCGTGTATATA CACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTA TATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATA TACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAG TATATATACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTA TATACACATGTATATGAGTATATATACGCGTGTATATACACATGTATATG AGTATACGCGTGTATATACT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLCN7_chr16_1439935_1480028	1457457	A A	ATGCTCAG others(293): Show ATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG G	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0364 a0001c0004t0001g0364	1	404	0.0025	300	c.739 others(315): Show c.739-121_739-120insCCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCA	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24			chr16	TogoVar
CLTCL1_chr22_19174473_19296719	19251180	T T	TTGCACTT others(293): Show TTGCACTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0326 a0001c0003t0001g0326	1	346	0.0029	300	c.519 others(317): Show c.519+2778_519+2779insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAGTGCA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	3/32			chr22	TogoVar
CMPK1_chr1_47328790_47383839	47359371	T T	TAAGAAAC others(293): Show TAAGAAACCTTTTTTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC TGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp2 HG02559.hp1 others(17): Show HG00639.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 others(1): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0004t0001	a0001c0001t0005g0003 a0001c0001t0005g0100 a0001c0001t0005g0117 others(15): Show a0001c0001t0005g0003 a0001c0001t0005g0100 a0001c0001t0005g0117 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0013g0003 a0001c0001t0015g0124 a0001c0001t0015g0125 a0001c0004t0001g0105 a0001c0004t0001g0106 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0109 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0116	20	364	0.0550	300	c.172 others(317): Show c.172-9082_172-9081insGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAGAAACCTTTTTTCT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMPK1_chr1_47328790_47383839	47359371	T T	TAAGAAAC others(293): Show TAAGAAACCTTTTTTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCAGTCCGCAGTC TGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA21309.hp1 HG02257.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0110 a0001c0004t0001g0111	2	364	0.0055	300	c.172 others(317): Show c.172-9082_172-9081insGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCAGTCCG CAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAGAAACCTTTTTTCT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMPK1_chr1_47328790_47383839	47359371	T T	TAAGAAAC others(293): Show TAAGAAACCTTTTTTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCAGTCCGCAGTC TGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0112 a0001c0004t0001g0112	1	364	0.0028	300	c.172 others(317): Show c.172-9082_172-9081insGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCAGTCCG CAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAGAAACCTTTTTTCT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMPK1_chr1_47328790_47383839	47359371	T T	TAAGAAAC others(293): Show TAAGAAACCTTTTTTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGT GGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACC CTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC TGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0115 a0001c0004t0001g0115	1	364	0.0028	300	c.172 others(317): Show c.172-9082_172-9081insGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAGAAACCTTTTTTCT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMPK1_chr1_47328790_47383839	47359374	G G	GAAACCTT others(293): Show GAAACCTTTTTTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG02897.hp2 HG02486.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320	3	364	0.0082	300	c.172 others(317): Show c.172-9082_172-9081insGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAACCTTTTTTCT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT3_chr19_54132762_54160681	54133878	C C	CCCCTCTC others(293): Show CCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	223	0.0045	300	c.-41 others(311): Show c.-4166_-4165insCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3883		chr19	TogoVar
CNTNAP5_chr2_124020287_124926219	124860416	C C	CTTCCTTC others(293): Show CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	64	0.0156	300	c.321 others(319): Show c.3218-4883_3218-4882insTTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL18A1_chr21_45400165_45518720	45474780	G G	GGGCGTGG others(293): Show GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0181	1	292	0.0034	300	c.739 others(315): Show c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGCGGCGTGGGCAGGAGAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501954	C C	CTCCACAG others(293): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0218 a0001c0005t0006g0218	1	292	0.0034	300	c.268 others(319): Show c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501954	C C	CTCCACAG others(293): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTC ACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCC TCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0003 a0001c0073t0003	a0001c0073t0003g0034 a0001c0073t0003g0034	1	292	0.0034	300	c.268 others(319): Show c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501954	C C	CTCCACAG others(293): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC ACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCC TCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAG AAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	292	0.0034	300	c.268 others(319): Show c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA CAGCCGGTCACCTCCCTCTACAGAAGGACCCTCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501954	C C	CTCCACAG others(293): Show CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0267 a0001c0004t0001g0267	1	292	0.0034	300	c.268 others(319): Show c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL23A1_chr5_178232618_178595393	178525130	A A	AGGACCCG others(293): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCAGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC G	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp2 HG03209.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0014 a0002c0003 a0002c0014	a0002c0003t0008 a0002c0014t0003 a0002c0003t0008 a0002c0014t0003	a0002c0003t0008g0231 a0002c0014t0003g0124 a0002c0003t0008g0231 a0002c0014t0003g0124	2	236	0.0085	300	c.361 others(319): Show c.361+35551_361+35552insCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCTGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCTGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A3_chr2_227159624_227319792	227203168	T T	TATATATA others(293): Show TATATATACATATATGTGTATATATGTGTATATATACATATATATACATA TATGTGTATATATACGTATATATACATATATGTGTATATATACGTATATA TACATATATGTGTATATATACATATATGTGTATATATGTGTATATATACA TATATGTGTATATATACATATATGTGTATATATACATATATGTGTATATA TACATATATGTGTATATATACATATATGTGTATATATACATATATGTGTA TATATACATATATGTGTATATATACGTATATATATATATGTGTATATATA C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0193 a0008c0009t0001g0193	1	344	0.0029	300	c.88- others(317): Show c.88-34794_88-34793insACATATATGTGTATATATGTGTATATAT ACATATATATACATATATGTGTATATATACGTATATATACATATATGTGT ATATATACGTATATATACATATATGTGTATATATACATATATGTGTATAT ATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATAC ATATATGTGTATATATACATATATGTGTATATATACATATATGTGTATAT ATACATATATGTGTATATATACATATATGTGTATATATACGTATATATAT ATATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134656889	A A	ATTATAGA others(293): Show ATTATAGATAATATGGGGGACGGGGCAGGGGGTGCACTTTATAGATAATA TGGGGGGGTGAGACAGGGGGTGCAGTTTATAGATAATATGGGGGACGGGG CAGGGGGTGCACTTTATAGATAATATGGGGGGGTGAGACAGGGGGTGCAG TTTATAGATAATATGGGGGACGGGGCAGGGGGTGCACTTTATAGATAATA TGGGGGGGTGAGACAGGGGGTGCAGTTTATAGATAATATGGGGGACGGGG CAGGGGGTGCACTTTATAGATAATATGGGGGGGTGAGACAGGGGGTGCAG T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02735.hp1 HG01243.hp1 HG02735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0045 a0001c0005t0050 a0001c0005t0045 a0001c0005t0050	a0001c0005t0045g0267 a0001c0005t0050g0271 a0001c0005t0045g0267 a0001c0005t0050g0271	2	272	0.0074	300	c.109 others(319): Show c.109+14761_109+14762insACGGGGCAGGGGGTGCACTTTATAGA TAATATGGGGGGGTGAGACAGGGGGTGCAGTTTATAGATAATATGGGGGA CGGGGCAGGGGGTGCACTTTATAGATAATATGGGGGGGTGAGACAGGGGG TGCAGTTTATAGATAATATGGGGGACGGGGCAGGGGGTGCACTTTATAGA TAATATGGGGGGGTGAGACAGGGGGTGCAGTTTATAGATAATATGGGGGA CGGGGCAGGGGGTGCACTTTATAGATAATATGGGGGGGTGAGACAGGGGG TGCAGTTTATAGATAATATGGGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A2_chr21_46093112_46134801	46134599	C C	CAGGTTTA others(293): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTGA GGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTGAGGGTGAGG GTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTGAGGGT GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTA GGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGG GTCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0006 a0009c0032t0006	a0009c0032t0006g0229 a0009c0032t0006g0229	1	372	0.0027	300	c.51 others(311): Show c.5108_*5109insAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGT TTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTC AGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAG GGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGG TCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT AGGGTGAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAG GTTTAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4799		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134599	C C	CAGGTTTA others(293): Show CAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTGA GGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTGAGGGTGAGG GTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTGAGGGT GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTA GGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGG GTCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0051 a0014c0051	a0014c0051t0001 a0014c0051t0001	a0014c0051t0001g0225 a0014c0051t0001g0225	1	364	0.0028	300	c.20 others(311): Show c.2047_*2048insAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGT TTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTC AGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAG GGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGG TCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT AGGGTGAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAG GTTTAGGGTGAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1752		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(293): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA ACCCCCATGACAGTCCCCCAACCCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCCAACCCCCACCACAGTCCCCC A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0335 a0001c0003t0001g0335	1	412	0.0024	300	c.128 others(315): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCA CCACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCCAACCCCC ACCACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(293): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCCACCCCCACC ACAGTCCGCCAACCCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCC CAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACC ACAGTCCGCCAACCCCCACGACAGTCCCCCAACCCCCACCACAGTCCCCC A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0156 a0001c0005t0001g0156	1	412	0.0024	300	c.128 others(315): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCCACCCCCACCACAGTCCGCCAACCCCCCATGACAGTCCCCCAACCCC CACCACAGTCCCCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTC CCCCACCCCCACCACAGTCCGCCAACCCCCACGACAGTCCCCCAACCCCC ACCACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(293): Show CACCCCCCACCACAGTCCCCCACCCCCCCACCCCAGTCCCCCCAAACCCC TACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCC CCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCA CCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCC CCAACCCCCATGACAGTCCCCCACCCCCACCACAGTCCCCCACCCCCACC ACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCC A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0213 a0001c0011t0002g0213	1	412	0.0024	300	c.128 others(315): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCCACCCCAGT CCCCCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCC CCTACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAG TCCCCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCC CCACCACAGTCCCCCAACCCCCATGACAGTCCCCCACCCCCACCACAGTC CCCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCC ACCACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COX7B2_chr4_46729827_46914245	46776358	T T	TCACTACA others(293): Show TCACTACAAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	300	0.0033	300	c.-49 others(319): Show c.-49-41118_-49-41117insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGTTTGTAGTG	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CREB3L2_chr7_137869979_138007086	137946852	T T	TTATATAT others(293): Show TTATATATATAGTTATATATATATAGTTATATATATAGTTATGTATATAT AGTTATATATATAGTTATGTATATATAGTTATATATATAGTTATATATAT ATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATAT ATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTAT ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0077 a0001c0001t0007g0077	1	288	0.0035	300	c.103 others(319): Show c.103-18487_103-18486insTAACTATATATATAACTATATATATA TAACTATATATATAACTATATATATATAACTATATATATAACTATATATA TATAACTATATATATAACTATATATATATAACTATATATATAACTATATA TATATAACTATATATATAACTATATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATATATAACTATATATATAACTA TATATACATAACTATATATATAACTATATATACATAACTATATATATAAC TATATATATATAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946852	T T	TTATATAT others(293): Show TTATATATATAGTTATATATATATAGTTATATATATAGTTATGTATATAT AGTTATATATATAGTTATGTATATATAGTTATATATATAGTTATGTATAT ATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATAT ATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTAT ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0119 a0001c0001t0012g0119	1	288	0.0035	300	c.103 others(319): Show c.103-18487_103-18486insTAACTATATATATAACTATATATATA TAACTATATATATAACTATATATATATAACTATATATATAACTATATATA TATAACTATATATATAACTATATATATATAACTATATATATAACTATATA TATATAACTATATATATAACTATATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATACATAACTATATATATAACTA TATATACATAACTATATATATAACTATATATACATAACTATATATATAAC TATATATATATAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CSMD1_chr8_2930361_4999914	3558630	C C	CCTCAATG others(293): Show CCTCAATGGAACTCCGTGTTCACTCCTCCAATGATGAATGATGCCTCAGT AGTACCCCGTGTCCACTCCTCCAATGATGAACGGTGCCTCAGTAGTACCC CGTGTCCACTCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCC ACTCCTGCAATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTC CAATGATGAACGGTACCTCAATGGTACCCCATGTCGACTCCTCCAACAAT GAACGGTGTCTCAATGGTACCCCGGTCCACTCCTGCAATGATGAATGGTG T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0027 a0002c0041t0027	a0002c0041t0027g0018 a0002c0041t0027g0018	1	126	0.0079	300	c.134 others(321): Show c.1344+16314_1344+16315insACACCATTCATCATTGCAGGAGTG GACCGGGGTACCATTGAGACACCGTTCATTGTTGGAGGAGTCGACATGGG GTACCATTGAGGTACCGTTCATCATTGGAGGAGTGGACATGGGGTACTAT TGAGACACTATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGGCA CCGTTCATCATTGGAGGAGTGGACACGGGGTACTACTGAGGCACCGTTCA TCATTGGAGGAGTGGACACGGGGTACTACTGAGGCATCATTCATCATTGG AGGAGTGAACACGGAGTTCCATTGAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558630	C C	CCTCAATG others(293): Show CCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATGGTGCCTCAAT AGTACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAGTAGTACCC CGTGTCCACTCCTCCAATGATGAACGGTGCCTCAATGGTACCCCGTGTCC ACTCCTGCAATGATGAATAGTGTCTCAATAGTACCCCATGTCCACTCCTC CAATGATGAACGGTACCTCAATGGTACCCCATGTCGACTCCTCCAACAAT GAACGGTGTCTCAATGGTACCCCGGTCCACTCCTGCAATGATGAATGGTG T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19090.hp1 NA18982.hp2 NA19090.hp1	a0001 a0001	a0001c0005 a0001c0102 a0001c0005 a0001c0102	a0001c0005t0002 a0001c0102t0005 a0001c0005t0002 a0001c0102t0005	a0001c0005t0002g0111 a0001c0102t0005g0034 a0001c0005t0002g0111 a0001c0102t0005g0034	2	126	0.0159	300	c.134 others(321): Show c.1344+16314_1344+16315insACACCATTCATCATTGCAGGAGTG GACCGGGGTACCATTGAGACACCGTTCATTGTTGGAGGAGTCGACATGGG GTACCATTGAGGTACCGTTCATCATTGGAGGAGTGGACATGGGGTACTAT TGAGACACTATTCATCATTGCAGGAGTGGACACGGGGTACCATTGAGGCA CCGTTCATCATTGGAGGAGTGGACACGGGGTACTACTGAGGCACCATTCA TCATTGGAGGAGTGGACACGGGGTACTATTGAGGCACCATTCATCATTGC AGGAGTGGACACGGGGTACCATTGAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar

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Search Results (Total: 10000 hits)