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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
ZCCHC2_chr18_62518025_62583579	62580618	CAGGTGGA others(1049): Show CAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGTG GACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCC TCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGA GACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGT GTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACA GCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTG TGGAAGGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAG GCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGG TGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACC CCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGTGGACCCCTCCC GAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATG GTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCA CAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGC TGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGA AGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCA GGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCGAGGTGGA CCCCTCCCGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTC CTGAGATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGA TGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGT CACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGC GCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGTG GAAGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03195.hp2 HG03453.hp2 others(1): Show HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0038 a0005c0017 a0012c0039 a0001c0038 a0005c0017 a0012c0039	a0001c0038t0008 a0005c0017t0008 a0012c0039t0008 a0001c0038t0008 a0005c0017t0008 a0012c0039t0008	a0001c0038t0008g0094 a0005c0017t0008g0030 a0005c0017t0008g0031 others(1): Show a0001c0038t0008g0094 a0005c0017t0008g0030 a0005c0017t0008g0031 a0012c0039t0008g0199	4	312	0.0128	-1056	c.40 others(11): Show c.4040_*5095del		ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding				2040		chr18	TogoVar
DACT2_chr6_168301904_168324777	168316706	TGTGTGTA others(1048): Show TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCT GAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAA ACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGT CTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGT CTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTG CGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTT CCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACG CAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGC ACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCT GCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAAC ACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATT GTGTGTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCAT GTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAA GCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTC CCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01099.hp1 others(20): Show HG00099.hp2 HG00597.hp1 HG01099.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02135.hp1 HG02293.hp1 HG03704.hp1 HG04184.hp1 NA18948.hp2 NA19067.hp1 NA19077.hp2 NA20752.hp2	a0001 a0021 a0024 a0001 a0021 a0024	a0001c0001 a0021c0028 a0024c0032 a0001c0001 a0021c0028 a0024c0032	a0001c0001t0001 a0001c0001t0002 a0021c0028t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0021c0028t0002 a0024c0032t0006	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0068 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0194 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0002g0070 a0021c0028t0002g0150 a0024c0032t0006g0321	23	476	0.0483	-1055	c.246 others(17): Show c.246+1627_246+2681del		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3					chr6	TogoVar
HRH1_chr3_11149493_11268557	11218633	TGGCATGA others(1048): Show TGGCATGATCTCGGCTCACTGCAGCCTCCACCTCCCAAGTTCAAGTGATT CTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTATAGCGTGGGCCACCACG CCCAGCTAATTTTTTGTATTTTTCATAGAGATGGGGTTTCACCATGTTGC CCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTGTTTA TTTACTTATTTATTTATTTATTTTTGGAGACAGAGTCTTGCTCTGTTGCC CAGGCTGGAGTGCCGTGGCGTGATCTCGGCTCACTGCAACCTCCACCTCC TAGGTTCAAGCAATTTTCCTGCCTCAGCCTCTGAGTAGCTGGGATTACAG GCATAAGCTACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGG GTTTCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCA CCCACCTCAGCCTCTTAAAGTGCTGGGATTACAGGAGTGAGCGACCGCGC CTGGCCTAAATTTTCTTATAAATTCATATTGCCATGTCTAAATACCTCAG GGAGCAGTGACTCCAGAAAACCATACAAACCTAGCACATGAATTAATGGA TTATTATAAGAATTCTGGAGATGGATGGTGGCGATGAGTTCATGGTTGCG TGGTTGTGAATGTAGTTAGTATCATTGAACTGTGCATGTAAAATGGTTAA AGTGGTAAGTGTTTTAGTGTAGGTATTTTGCCACAGTTAAAAATAAATAG GCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGAGCACGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATAGT GAAACCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGAATGGTGGTG TGTGCCTGCAGTCCTAGCTACTTGGGAGGCTGAAGCAGGAGAATCGCTTG GACCCGGGAGGTGGAGCTTGCAGTGAACTGAGTTTATGCCACTGCACTCC AGCTCG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0151 a0001c0001t0016g0151	1	352	0.0028	-1055	c.-35 others(19): Show c.-35-40365_-35-39311del		HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1				INFO_REALIGN_3_PRIME	chr3	TogoVar
NT5M_chr17_17298373_17352663	17330972	AGCTCAGG others(1048): Show AGCTCAGGCAATCGCCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGC GTGAGCCACTGGACCCGGCCTTCTTTGCATATTTTACATTAAATTTCCAG TTGCTCCAGTACGTTTTCCAGTTACTCCCTGTAGGACTTAGGCTAAAAGA CTTGGCACTTTCTCTTGGCATGTAAAGAAACCCTAGGTTCTTTTGGGGAT GGCACGGCCACACTGCCAGCATTCAGGAGCTTCCCCTGGAGCTCCTGAAC CCCAGTGTCACCCCTGCCATCTCAGTGGGGCTCATGGTGTCTTTCTTGGC GTGTTTCTGGCCCATACCGTGTTTATTTTAAAAATTGTTCATGCTAATTG GCATGGGGTTTCTTTTAGGGGTGATGGAAACATTCTGGAATTTAGATAGT GGTAGTGGTTGCATAACATTGTTGATACACTAAAGACCATTGAATTGTAC ACTTTAAATTGGTAAATTTTATGATATGTGAATTACATTTCCAAAAAATA AAATAAAATTGGCTGTTCAGATGGCTAATAATTCCAAAGCTAACTCACTC CTTCTAGTTAGATCTGGCCATTTCATCATTGTAATAGGGATTGTAGACAA AAGTGCATGATCCCTTTATTTATTTATGTAATTTTTTTTTTAAAGACAGA GTCTCGTTCTGTTGCCCAGGTGGATTCTAGTGGAACGATCATAGCTCACT GCAGCCTCTAACTCCCAGACCATCGTGCCTGGTCATAATACCTTTAAAGT GTCCTAGATCAAGCCATTCATTTTGAAAACCTCCAGTTTTATGGTATTCT TTTTCTTTTTCTTTTCTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCAC CTAAGCTGGAGTGCAGTTGCGCGATCTCTGCTCACTGCAAGCTCCGCCTC CTGGGTTCACACCATTCTCCTGCCTTGGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGGCA GGGTTTCAGTGTGTTGGCCAGGATGGTCTTGATTTCCCGACCTCATGATC CACCCG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02145.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0147 a0001c0001t0008g0316 a0001c0001t0001g0147 a0001c0001t0008g0316	2	348	0.0058	-1055	c.429 others(17): Show c.429+7728_429+8782del		NT5M	ENSG00000205309.14	transcript	ENST00000389022.9	protein_coding	3/4					chr17	TogoVar
AHRR_chr5_316714_443285	357542	CTCAGACA others(1047): Show CTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCG GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCC ACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAG TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTG GAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAG CGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAGCG ACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCC GGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCA CGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGA GGCCG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0264 a0001c0001t0017g0264	1	268	0.0037	-1054	c.244 others(17): Show c.244+3636_244+4689del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
KNDC1_chr10_133155219_133231412	133222716	TGTGTGTG others(1047): Show TGTGTGTGCATGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCG TGTGCGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAG CCCATCCAGCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCA GGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGG CGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCA TGCTCTTCCCGGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTC TCGGCATGTGTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTGTTC CCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCTCGG CGTGTGTGTGTCTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCATGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCATGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCATGTGTGTGAG AGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGCGTGTGTGTGAGAG CCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGAGAGCCCATC CAGGCATGCTCTTCCCGGCGTGTGTCTGTGTGTGTGTGAGAGCCCATCCA GGCATGCTCTTCCCGGCATGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTC CCGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0021 a0016c0029t0021	a0016c0029t0021g0151 a0016c0029t0021g0151	1	332	0.0030	-1054	c.501 others(18): Show c.5019-1935_5019-882del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29				INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186213	GACACGGG others(1047): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAATACCAACACGGGAGGAA CAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	350	0.0029	-1054	c.19 others(11): Show c.1931_*2984del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding				2776		chr16	TogoVar
NMU_chr4_55590231_55641298	55603178	GTTTTTGT others(1047): Show GTTTTTGTATTTTTAGTAGAGACGGGATTTCATCATGATGGACAGGCTGG TCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGGCTCCCAAAGTG CTGGGATTTCAGGCGTGAGCCACTGCGCCCAGCCTGAATTCAACTTTTAA TAATAAAATACGTAATTTAAAAATAACATAATAAAAGTATCCAAATTAAA CTATAAAGGGTACAGCATAGTGAAAAAAAAATTGCCTAGATCAGAATTCA GAAAACTATTTTGTACTTTCTCTTACTAATACGATCTGGGGAAACTCCTT CAACTATTCTGACTTGCTTTCCCTTTTGTAAATGGGAAATAATACTTGTA TAAGTACTAACGGAGTTCCTCAAAGGATAAAATGAGATAATATAAGACTG AAAATTATAATGTATTACAGCAAGGGAAGGCATTACTTAAAAATAATCCT AGAGGCCGGGCGCAGTGGCTCACGCCTGTAATACCAGCACTTTGGGAAGC CGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTTACA CGGTGAAACTCCGTCTCTACTAAAAATACAACAAATTAGCCGGGCGTAGC GGCGGGCGCCTGTGATCCCAGCTCCTCGGGAGGCTGAGGCAGGCGAATGG TGTGAACCCGGGGGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCA CTCCAGTCTGGGCGACAGAGCAAGAGTCCGTCTCAAAAAAAAAAAAAAAA TATATATATATATATATATGTATATATGTGTATATATATACGTATATATG TATATATGTGTATATATATACGTATATATGTATATATGTGTATATATATA ATCCTAGAAATTATCAGTGTTACAAGGGTTAGGATTTTTTTTCTTTTTTT TTTTTCGAGACAGAGTCTCGCGCTGTCACTCAGGCTGGAGTGCAGTGGCG AGATTTCAGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTCTTCT GCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCGCCCACCGCCACGCCCA GCTAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0194 a0001c0008t0001g0194	1	412	0.0024	-1054	c.435 others(17): Show c.435+1043_435+2096del		NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding	7/9					chr4	TogoVar
SMOC2_chr6_168436184_168672992	168571985	CTTCCTCC others(1047): Show CTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGA ACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTG CGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCG GGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCAT CTCCGGGTGCCGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCACT TCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAAC GCAATGTTCACTTTCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGTG TGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCGGG ACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCC CCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCACTTC CTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGC GATGTTCATTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTG CTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGAC CAGGGCTGTGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCC GGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCT GCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGA TGTTCATTTCCTGCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCT CCCTGAACGCGATGTTCATTTCCTGCCCGCATCTCCGGGTGCTGGGACCA GGGCTGCGTGGTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCTG GTGCCGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCTCATTTCCTCC CCACATCCCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAACGCGATG TTCAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0050 a0001c0007t0005g0050	1	180	0.0056	-1054	c.637 others(19): Show c.637+22806_637+23859del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12				INFO_REALIGN_3_PRIME	chr6	TogoVar
SRFBP1_chr5_121956975_122033633	122006727	AATTTAAA others(1047): Show AATTTAAATTTTTCATATATGTAATTTTAGTCATTCTGTTAATTTTCTCA TTTTGGTATTTTATTGTTTTCTTTATATTATTAATTTGTTTCTGAATGTA TTTTGAAATTCCTTAAGCTTTCTGAAAATAATTATTTGAATATTTGAATT CTTTGTCATTCTGTTCTATATCTTCATTTATTAGGGGTCAGCTACTAGGA TATTATCCCATTATTTTTGTCGTGTTGTATCTCTTAGGTTTTTTCTGTCT CTTGTTGCCTTATGTTGATTTTTGCATATTTACAGAAGTAGGGACTTATT CTAGTGTTTGCATACTTGCTTTGTCTGGGAGAACCGTTCTCCAGTCAGTG CATCCAGAGATTTTGGGCAGAGTGTCTGGCATGATTTGAGGGCAGGCTTG CTGCTGGAATCTTTGGGCATGCCGGCCTGGTGACCAGGTCACCATATGGG CTGGCCTGGCATCTGGGTTCATGTGATAGGGCCTGAAGACTGGATCAATA AAGGCTGGGCTGGAGACACAGTCTACACGGGTGGTCTTGGGGCCTCAGTC CATGGCATTCAGCCTGGCACTGGTGAATGCTGAGATGGACCTGGACCCTG GGTCTGCTGGAGTAGGCCTGGACTCTGGATCCTCTAGAGCCTGGTACCAT GGGGGCTGGCTGGGTATCAAGGCCAGCATGGAGCCTAGGTCCACGGTGCT GGTCGAAACTTAATATTGCTGGTGCTGACATGGTGTCTGGAGCCACTGGG ACTGGTCTGGATCCTGGGGCCATGGGGAACAGCCTGGAGCCTCGGTCTGT TGGTGCCAGCCTAGAAGCTGGTGTGCAAGTGCTGTTTTAGAGGCTAGGTC CACAAAAGCTGGCCTGTATCCTACAGCCTCAGGGGCAGGCCCGGGACCTG TGTAGACAGGAGCGGTCCTGCACCCTGGGTCTGTGTTGGCTGGTCCAGTG GGAGTTTTCTGGGACAGACCTGGACCCTGGGTCTGCTGGAGAATGGAGCA TCAGAGGCCAACCTGGAGCGTGGGGCCTTGGGGACTCAGCCTGGCACTGG GCAGG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0050 a0002c0015t0001g0050	1	228	0.0044	-1054	c.270 others(19): Show c.270+12058_271-11479del		SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding	4/7					chr5	TogoVar
CEP72_chr5_607340_658553	630086	ACCAGTCC others(1046): Show ACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGGATTTGACCCAGTCCTGG TGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGT CCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGG ATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAG TCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGG TTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGT GCCGGGATTTGACCCAAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTT GACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCT GGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCT GTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCG GGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCC AGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGG GGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCA GTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATT TGACCCAGTCCTGGTGGGGTTCTATCCAGTGCCGGGATTTGGCCCAGTCC TGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTC TGTCCAGTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCC GGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACC CAGTCCTGGTGGGGTTCTGTCCAGTGCTGGATTTGACCCAGTCCTGGTGG GGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCA GCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATT TGGC	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	91	0.0110	-1053	c.513 others(17): Show c.513-3654_513-2602del		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11				INFO_REALIGN_3_PRIME	chr5	TogoVar
DACT2_chr6_168301904_168324777	168316596	ATGTGTGT others(1046): Show ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCAC GCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAG CACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGC TGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCA TCTCAGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGT GTGCTGAGCTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCA TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTGTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18954.hp2 NA18961.hp2 others(3): Show HG00423.hp1 NA18954.hp2 NA18961.hp2 NA18965.hp2 NA18969.hp2 NA18970.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0004 a0001c0001t0002 a0003c0004t0004	a0001c0001t0002g0161 a0001c0001t0002g0185 a0003c0004t0004g0026 others(1): Show a0001c0001t0002g0161 a0001c0001t0002g0185 a0003c0004t0004g0026 a0003c0004t0004g0152	6	476	0.0126	-1053	c.246 others(17): Show c.246+1739_246+2791del		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3					chr6	TogoVar
DACT2_chr6_168301904_168324777	168316705	ATGTGTGT others(1046): Show ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCAC GCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAG CACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGC TGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAA CACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGAT TGTGTGTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCA TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0130 a0002c0002t0002g0130	1	476	0.0021	-1053	c.246 others(17): Show c.246+1630_246+2682del		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3					chr6	TogoVar
DACT2_chr6_168301904_168324777	168316814	ATGTGTGT others(1046): Show ATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAG AAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACC TCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAG GTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTC GGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGC TGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAA CAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCT GTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCA AACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACG TCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTG TCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTG TGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCT GCGATTGTGTCTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCT TCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACAC ACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGT GGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGG TGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAA CACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGAT TGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCA TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0163 a0003c0004t0004g0163	1	476	0.0021	-1053	c.246 others(17): Show c.246+1521_246+2573del		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3					chr6	TogoVar
DENND1A_chr9_123374658_123935126	123404863	TTCCTGCC others(1046): Show TTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGG CACACACTCCACTTCCTGCCTACCCTTTGAGTTTCCAGGACAAGACAGGG AAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAG GACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCT TTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTT CCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCA CACACTCCACCTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAA GGGAAGCAGGCACACACTCCACCTCCTGCCCACCCTTTGAGTTTCCAGGA CAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTT GAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCC TGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACA CACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGG GAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACA AGACAGGGAAGGGAAGCAGGCACACACTGCACTTCCTGCCCACCCTTTGA GTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACCTCCTG CCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAGCAGGCACACAC TCCACCTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAA GCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGA CAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTT TCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCC ACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTC CACC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG03139.hp2 others(4): Show HG02451.hp2 HG02615.hp1 HG03139.hp2 HG03579.hp1 NA18970.hp1 NA18975.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 a0001c0006t0001 a0001c0013t0001	a0001c0001t0001g0077 a0001c0001t0001g0116 a0001c0001t0004g0001 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0116 a0001c0001t0004g0001 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0006t0001g0098 a0001c0013t0001g0040	7	162	0.0432	-1053	c.154 others(19): Show c.1543-2426_1543-1374del		DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23					chr9	TogoVar
PRR5_chr22_44697204_44742681	44737979	AGGAGGGG others(1046): Show AGGAGGGGTGGGGGCGGGATCTGCCAGCTCCTCCCGTGCTACAGAAGCGT CCAGGTGGCCTAGGGGGTGGGGGTGACCTGCTGAAGGCCATCCGGCCTGG GAAGCACAAACTAACACCTGCTCTGACCTCCCCTGCAGCCTCACTATCCC CAGACAGGCTTTCCCCGGGCCCTCAGGTGGGCAGGATACCGCATCAGCCG TAGCAGGCAGGGCTCTTTGTTCCCCCGTCAGTGGGGCCCGAGTGTTACTG AGAGCCAAAGGCCAGCCCAGCACCACGGGCACCCCTACTATCGGGGCAGG AGCTGAGCCTGGGGCAGCCTTCCCTAGCCACCCCCGCCGTTTTAAAGCAT CGGGTCAGCGTGGCCTCCATGGGGAGGGGTGGAGGGGTCTCTAACGGCGG GCACCTTTCCACACCCCGTTCACCTGCTGATCTGCCACCCCCGCAGCCTT CCACGCGCTCGCCTCTCATGGCGTTTTCTCAAGGTGGGAAAGGAGTGCTG AGCAAATGAAGGACAGGCCCAGGGCAGGGGAACCAGGTGTGATTGGAGGG AGAGGGTGGGTGTGAGCCGGGCGTGAGCAGGAGGACGTCACCTGACCCCT GAGTCACGGCCGGAGCTGGCCCAGGCTGTCTCCCAGCAGAGCCTTCTGGA TGGAGGAGTTTCCCTCTCTGGTGGGAGAAGCAGACCTGGCGCCCCTGCTT CAGCTCAGGATAGGAGGGTGTAGGGGTGGGGGCAGGGGGAGCTCTGGCTT TCTGACTCTGCTGAGCCGCAGTTTTGTCATCTGTGATACGGGTGCATACC AACCCTGTGGAGCTCTCTGAAGCTACTCGGAATGGGTAATGTGCCCCAGG CAGGGCTCAGCTGGGCAAGTAGGGGAGCAAGAGCAGCCTCGGGACCCAGG CCTGGGGGACAGGTGGTCGTTGAACAGAAAGCCAGAACCTGGTCTGAGAA CCACTAAGCCAGGCTGATGAGGCCGAGATCCGTGGACCAACCTCTTTGGC TCCCAGCTCCATCATGGAGCCCGAGGTGGCCTGAGGCGGGGAGTAGTGGG TGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0136 a0002c0003t0002g0136	1	442	0.0023	-1053	c.73 others(10): Show c.733_*1785del		PRR5	ENSG00000186654.21	transcript	ENST00000336985.11	protein_coding				299		chr22	TogoVar
SPDYE12_chr7_74899289_74920078	74917138	TTGCCTTG others(1046): Show TTGCCTTGGCCTCTCAAAGTGCTGGAATTACACGCGTGAGCCATTGAGCC CAACCAGATAAGATGATCTTTAAGGGCCCTTCCCATGGTACCATATCCAA GTCAGCGAGACTGTGGCTATAGCAAGTTTAACATAACCAGATACGCTAGT ATTATGGGCTGCATGGTGTGCCCCCCACCCCTAATTCATGTATTGAAGCC ATGACCCTCCAGACCTTAGAGGTGACCTTATTGGAACCAGAGTCTTTACA GAGGTGATCAAGTTAAAATGAGGTCACTAGAGGCCAGGCACGGTGGCTCA CACCTGTAATGCCAGCACTTCGGGAGGCCGAGGCAGGCAGATAATGAGCC CAAGAGACCGAGACCATGATGTCCAACATGGTGAAACCCTGTCTCTACTA AAAATACAAAAATTAGCCAGGCGTGGTGGTGTGGGCCTGTAGTCCCAGCT ACTCAGGAGGCTGAGGCAAGAGAATCGCTTGAACCCGGAAGGCAGAGATT ACAGTCAGCCAAGATCATGCCACTACACTCCAGCCTGGGTGACAGAGTGA GACTCTATCTCAAAAAAATAAAAATTAAAAAACTAAAAACCTACAGTACC GCCTTTTACATAATGCAATGGTTTGGTAAGCACATGCACCCCAGGGAGGT AGTGGCAGATTCAGTCAACCTTCCCAGCAGCGTGGAGACGCAGTCAGGCA TAGCAGGTGTTGATGTGGTTTGAACCCACAGCTTGGCTCAAATCCACACT CCCCTACTTAGTACCGAGTGAAGCCACTTACCCTCTAAGTGCCTTACTTT TCTTTTCTTTTCTTTTTTCTTTTTTCGAGACAGAGTCTCGCTCTGTCACC CAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAAACTTCGCCTTC CAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GGCGCCCACCACCATGCCGGGCTAATATTTGTATTTTTGATAGAGATGGG GTTTCACCGTATTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATC TGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(260): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0008 a0001c0011 others(5): Show a0001c0001 a0001c0008 a0001c0011 a0002c0002 a0003c0009 a0004c0006 a0005c0010 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0008t0011 a0001c0011t0001 a0002c0002t0001 a0003c0009t0001 a0004c0006t0001 a0005c0010t0018 a0006c0007t0011	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(109): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0003g0002 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0006g0036 a0001c0001t0006g0076 a0001c0001t0006g0109 a0001c0001t0006g0122 a0001c0001t0007g0071 a0001c0001t0007g0092 a0001c0001t0007g0096 a0001c0001t0008g0037 a0001c0001t0008g0125 a0001c0001t0009g0167 a0001c0001t0009g0168 a0001c0001t0009g0169 a0001c0001t0013g0052 a0001c0001t0014g0053 a0001c0001t0019g0082 a0001c0001t0020g0089 a0001c0001t0021g0074 a0001c0001t0022g0090 a0001c0008t0011g0088 a0001c0011t0001g0124 a0002c0002t0001g0005 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0123 a0003c0009t0001g0062 a0004c0006t0001g0100 a0004c0006t0001g0119 a0005c0010t0018g0072 a0006c0007t0011g0054	263	350	0.7514	-1053	c.-36 others(11): Show c.-3688_-2636del		SPDYE12	ENSG00000184616.12	transcript	ENST00000618416.5	protein_coding				2061		chr7	TogoVar
MYT1L_chr2_1784113_2336275	2034364	CGGGTGCA others(1045): Show CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCA ATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCT CCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCAC CCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCC ACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCT CCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAA TCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAC AATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCC ACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCC CCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCT CCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACT TCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCC TAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCT CCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGA GCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAG AGAGCTCCTAACTTCTCCCCAACCATCTCCACCCTCCAATGCGGGTGCAG AAGAGAGCTCCTAACTTCTCCCCAACCATCTCCACCCTCCAATGCGGGTG CAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGG TGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGC GGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAA TGT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0073 a0001c0004t0005g0073	1	104	0.0096	-1052	c.-15 others(21): Show c.-158+18562_-158+19613del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24					chr2	TogoVar
TIRAP_chr11_126278093_126299933	126291399	ACCTGAGC others(1045): Show ACCTGAGCAGTGTTTCTCCCCCACAGACTGGTTCAGGCAGACCCTGCTGA AGAAGCCCAAGAAGAGGCCCGGCTCCCTGACATACCTGACACTGCATTAT CTCAGTTAACTTTCAGCAACTAAGACAGGTCCACAAGTCCACAGTCAAAG CCGTGTCCCTGACTCCAGAGTGTGGGTTCTGAATCACGAAGCTCTCTGCT CCTCAGCAACTCTGAGCAGTAGCCTCTTCCCCATTTAGCGACAATCTAGG ATTTCTTGGGGCCAAACAGATGCCAGTCCTCCGTACCCCTTCCTTCCTGT ATACGTAGCCCTTCCTAATCTAAGTCCACCTCCCCTCAGTGCTGAAAGTG GGCTTTGGGACTGATGGATCCTTGCTAGCATAACGTAGCTCTGCCTGCAG ACTCCCGGTGGTTGACTAGTCAGCTCTAGTGGGAAGTTCTGCTTAAGGTG GGCTGGGCTGGGGGTACCAGATATCAAAGGGCCTGGAGTAGTGCAAGGCC ATTTCTCTTAACCAGGCTGGTGGAACACTCTCACATAAGGATTCCAGAGT TCTGACACGTCCAAAACCTTTACCTTTAGAGGGCACTTTTAGGCAAGTCC CAAAAGATAAACAAAAATAGCAGAGTGCTGGGCACAGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGAAG TTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATA CAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTG AGCCAAGATCGCACCACTGTACTCCAGCCTGGGTGAGAGTGAGACTCTGC CTCAAAAAAAAAAAAAAAAAATAGTGGAGCAACAGGTCTCTGAGAATAAG ATGTTTCCCAGTGCAGGGAGGTGGGCTGCAGTCTGTCTGTCCTCCCTGTG AGGTGGGGCTCCTCCCTGTGTGGGCAGTGAGAGGGCACCTGGTAACACAC AGG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0018 a0001c0013t0018	a0001c0013t0018g0077 a0001c0013t0018g0077	1	364	0.0028	-1052	c.67+ others(10): Show c.67+508_111del	p.Asp others(4): Show p.Asp23fs	TIRAP	ENSG00000150455.15	transcript	ENST00000392679.6	protein_coding	4/5	68/666	23/221		INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNF516_chr18_76352682_76500242	76393181	GGGCAGGG others(1045): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGG GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAA GCC	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA20129.hp2 NA18962.hp2 NA20129.hp2	a0004 a0012 a0004 a0012	a0004c0010 a0012c0034 a0004c0010 a0012c0034	a0004c0010t0010 a0012c0034t0019 a0004c0010t0010 a0012c0034t0019	a0004c0010t0010g0225 a0012c0034t0019g0280 a0004c0010t0010g0225 a0012c0034t0019g0280	2	346	0.0058	-1052	c.181 others(21): Show c.1811-13930_1811-12879del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6					chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393190	GGGTGGTC others(1045): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT AGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0176 a0004c0030t0176	a0004c0030t0176g0134 a0004c0030t0176g0134	1	346	0.0029	-1052	c.181 others(21): Show c.1811-13939_1811-12888del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6					chr18	TogoVar
DGKB_chr7_14140049_14907751	14211286	ACTATGTG others(1044): Show ACTATGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCG TGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTT TACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTT GTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTT TACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCG TGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTT ACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTT GTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCA TGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGT TT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02135.hp1 HG02056.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0143 a0001c0001t0016g0042 a0001c0001t0002g0143 a0001c0001t0016g0042	2	148	0.0135	-1051	c.212 others(21): Show c.2123-34186_2123-33136del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25					chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805290	CTCCCCCC others(1044): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGA CCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCAC CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	314	0.0032	-1051	c.11 others(11): Show c.1125_*2175del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1004		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805525	TCCCCCCT others(1044): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCC CCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0144 a0002c0002t0002g0144	1	314	0.0032	-1051	c.13 others(11): Show c.1360_*2410del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1239		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805290	CTCCCCCC others(1044): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGA CCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCAC CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	319	0.0031	-1051	c.-39 others(11): Show c.-3987_-2937del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				3902		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805525	TCCCCCCT others(1044): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCC CCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	1	319	0.0031	-1051	c.-37 others(11): Show c.-3752_-2702del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				3667		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149006	TACCACAC others(1044): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC AC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	294	0.0034	-1051	c.901 others(15): Show c.901+150_902-886del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14				INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149666	TACCACAC others(1044): Show TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC AC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA21309.hp2 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0145 a0001c0001t0001g0079 a0001c0001t0001g0145	2	294	0.0068	-1051	c.901 others(15): Show c.901+801_902-235del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14				INFO_REALIGN_3_PRIME	chr12	TogoVar
ASMTL_chrX_1398139_1457909	1408376	CCTCCAGC others(1043): Show CCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAAC ACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATG ACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTG AACTATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATA CTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTG CAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCC AAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAA GGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGCTA CTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAG GTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCAAATGC TGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCC AGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCA AATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTG AGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCC AGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATC GCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGC A	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0058 a0004c0006t0001g0058	1	185	0.0054	-1050	c.164 others(19): Show c.1645+3306_1645+4355del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12					chrX	TogoVar
ASMTL_chrX_1398139_1457909	1409112	GTCCAGCC others(1043): Show GTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAG GATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACA CTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGC AGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGA CAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCT GAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTAT GATGGCAACACTGCACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGG AGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGA ACTATGATGACAACACTGCACTCCAGCCAAATGCTGGTACTCCCAAATAC TCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGC AGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCA AATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAG GCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTAC TCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGG TCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCT GGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCA GGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAA ATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGA GCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCA GCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCG CTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCC C	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0110 a0003c0002t0001g0110	1	185	0.0054	-1050	c.164 others(19): Show c.1645+2570_1645+3619del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12					chrX	TogoVar
C1orf159_chr1_1076823_1121089	1077301	CGGGAGGC others(1043): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0227 a0001c0005t0010g0227	1	326	0.0031	-1050	c.45 others(11): Show c.4542_*5591del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding				4521		chr1	TogoVar
JHY_chr11_122877759_122968862	122917875	TAGCATAT others(1043): Show TAGCATATATTTATTTATTTTATTTTACTTATTTATTTATTTTGGAGACA CAGTCTCACTCTGTCACCCAGGTTGGAATGCAGTGGCGCCATCTCAGCTC ACTGCAACCTCTGCCTCCCGGGTCCAAACGACTGTCATGCCTCAGTCTCC CAAGTAGCTGGGATTACAGGCATGAGCCACCACACCCAGCTAATTTTTGT ATTTTTAGTAGAGACAGGGTTTTGCCATATTGGCCAGGCTGGTCTCGAAC TCCTGGTTTCAAGTGATCTGCCTGCCTCAGCCTCCCAAACTGCTGGGATT ACAGGTGTGAGCCACTGTGTCCAGCCTAGCATACATTTATTGAGAGATGA TTATATGTCAGACATTGTCATAGGTGCTTGGGATACATCCCTGAAAAAAA ACAGACAAAAATCCCAGGCCTCCTGAGGAAGGAGATGGGCAACAGACAAA ATAGATAAATTAGTGCATTGGTGCATGATAAGTTTTATATTTTAAGGAGG TAAGGAGACAAATAATAAGGCTGGCAGAACTGCTAAGGATTGCTGAGGTG TTGGGAAATCACAACGTTAAATGGGCCATGAGGCAGAGTCTCCCTGAGAA GATATGGAGGAGGTGAGAGGGCACGCCATGCGAATATTTGGAGAAAGAGG ATTTCTGGAAGAGGGAGTAGCAAATGCAAATTTCAGGGACTGAAGATGGG AACAAGGGAGAGTGGAATGGAAGATGAAGTTCTAGTTTCCACCTTATTTT GTCAACAGCCGGCTACCTGGCTTTAAAATAAACCACACATCTAACCAGAT AAACAAGTAGATTATATGTATTCTGATATAAATGCAAGTTCAGTGAGCAA CCCAGATTGATATTTTCATGCCGTCGTATTTATTGACCATCTAGATGCCA GGCACATTCAGAGCATAGCACAGGTGAGTAGTACCCGTAGAGCTATACAG CAAGACAGCCCTGCACATGGTCCGTCCTTTTTCCTGCCTTCCTGGAATTT ACAGTCCAGAAGGGGGGAAGAAAAAGCAGTTACCAGGGTGATACTTGTTA C	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02258.hp2 others(8): Show HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02886.hp1 HG02922.hp1 HG03139.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0229 a0001c0001t0004g0157 a0001c0001t0007g0144 others(8): Show a0001c0001t0001g0229 a0001c0001t0004g0157 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0007g0170 a0001c0001t0007g0228 a0001c0001t0007g0230 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0289	11	332	0.0331	-1050	c.865 others(17): Show c.865-7020_865-5971del		JHY	ENSG00000109944.11	transcript	ENST00000227349.7	protein_coding	3/8				INFO_REALIGN_3_PRIME	chr11	TogoVar
MLPH_chr2_237482251_237560322	237543214	TGGGGGAC others(1043): Show TGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTGA ATGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGGGGGACAG TAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACA GTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGG CACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTG GGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTG GGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTG AGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGT GGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGAC AGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGA CAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGG GACAGTGGTGAGTGGGCACGGTGGTGAGTGGGGGGACAGTGGTGAGTGGG CACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTT GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGT C	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0025 a0025	a0025c0039 a0025c0039	a0025c0039t0008 a0025c0039t0008	a0025c0039t0008g0105 a0025c0039t0008g0105	1	286	0.0035	-1050	c.153 others(18): Show c.1539+589_1539+1638del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15				INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195775665	CCATACCT others(1043): Show CCATACCTTCCACACCGATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACATCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGG CCATACCTTCCACGGTCATACCTTCCACACCCATACCTTCCACGGCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACATCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACATCCATACCTTCCACGGCCATAACTTCCACACCCATACCTTC CACACCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACAGCCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCACACCCATACCTTCCGCATCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCGCACCCATACCTTCCACACCCATACCTTCCGCAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAG T	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0175 a0175	a0175c0031 a0175c0031	a0175c0031t0001 a0175c0031t0001	a0175c0031t0001g0190 a0175c0031t0001g0190	1	249	0.0040	-1050	c.129 others(21): Show c.12943+1588_12944-1361del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24					chr3	TogoVar
RNF223_chr1_1065967_1079306	1077283	TCTATGGG others(1043): Show TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCG GGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGA CTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGA CTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAG TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGA CTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG GCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGG GGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGA CTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAG G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	1	324	0.0031	-1050	c.-43 others(11): Show c.-4327_-3278del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding				2978		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077301	CGGGAGGC others(1043): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0018 a0009c0009t0018	a0009c0009t0018g0048 a0009c0009t0018g0048	1	324	0.0031	-1050	c.-43 others(11): Show c.-4345_-3296del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding				2996		chr1	TogoVar
DMXL1_chr5_119066087_119254127	119121855	TGGCCGGG others(1042): Show TGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGTGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCAACCTC CCTCCCGGTCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCAGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTG GGCGGGGGGCCGACCACCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAGGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGATGGGGCAGCTGGCCGGGCGGGGGGCTAACCCCCCCCACC TCCCTCCCAGACGGGGTGGCTGCCAGGCGGAGATGCTCCTCACTTCCCAG ACGGGGTGGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGATGGGGCGGC TGCCGGGCGGAGGGGCTCCTCACTTCTCTGACGGGTCGGTTGCCAGGCAG AGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCCCTTCCC CTCCCAGACGGGGTCGCTGCCGGGCAGAGGCGCTCCTCACATCCCAGACG GGGCGGCGGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGTGGCCGG GAAGAGGCGCTCCTCACTTACTAGATGGGATGGCGGCCGGGCAGAGATGC TCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCA GACGATGGGCGGCCAGGCAGAGACGCTCCTTACTTCCCAGATGGGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0122 a0006c0011t0001g0122	1	238	0.0042	-1049	c.110 others(18): Show c.1102+731_1102+1779del		DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	9/43				INFO_REALIGN_3_PRIME	chr5	TogoVar
RYR2_chr1_237037184_237838988	237179192	GGAGCTTC others(1042): Show GGAGCTTCTATGTTGTTTCAGTCATCTTCAGAAATATTTCAGATATGAAG AGACATACTCTTAGAGCTTGTTGGACAAAGATTCATTAAAACCATGATCT GCTGATAAGGCCAATTATATTGTGTTGAACTCAGTCTTTCTCATTATATT TCTTACAGGCAAACTTGAAGATTTACCAAGAAATTCAGAAGTTAGTATCA GATTTTACTTGGGATCACCCCAGGAAATGCTTTATGTTTAGGAGACTAGG AATACCTTCAGAAGTCCTTGAGATTGTCTTCTAGAAATGGGGAGGGAGAA GGAAGCAGAGGAGAAGAACTGGTATTTATTGATGTCTATGAATACCAACT GTTCCACTGAACTCTTTATCTGCGTTATTTCATGTAATGCCCCAGCATCT CTGAGATGGAATTCTTCTTGTTTTATAGCTGATATGTGATCTGGGCTACA TACCGTCTCTCTGTATCCAGAATGTACATTCTTACCACCCATATACCAGC TGCCCACCAGCTGCGTTGCTGATGGTGCTCTGGGGCTAGCCAAGAGGAAT GTCTGGAAGAGCTGAGGGTAGCCTTTTAGAGAGGAGATAACTTTCAGCAG ATGATGCATCTGGAGAAGCGTGGGGGAATCTGCCGGGCTGAGTCTGAAGA ACCTTGGCCATAGCCGGCAACATCTATTGTCTTTGCAGAGCTCTGTGCTG GGACTAAATTCTGCCTGATTGACCAAGAAAAAGCAAAAGAGGGTCAGCAT GTCCTTTGTAAGCCGGAAGCGCAGAGCAAGGTTTCAGATTGGCAGTGGCT TTCTGATCAAATTTCGGGTCTTGACACAGCAAGTGATAAAGCTTTGACCC CTGGGTATATTGTTGATGGGAGACCCGACTTACTGAGCCATGTCCGTGTC GTCCTGTTGGTAAGGGCTGTTCAGGATCCTCAGTGATGAGAATTGGTTGT GAGTTAGAGCCTGGGACAATGGCCTGATGGGAAATGCTGCATTTGGTCCC CAGGTCAGGAAGGCGAGGCTCCTGGGGCTGGCTAGAGGACAGACAGGGGT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0004 a0001c0026t0004	a0001c0026t0004g0055 a0001c0026t0004g0055	1	100	0.0100	-1049	c.49- others(17): Show c.49-91300_49-90252del		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104				INFO_REALIGN_3_PRIME	chr1	TogoVar
TBC1D2B_chr15_77989985_78082711	77991787	ACACAGCA others(1042): Show ACACAGCATGGCCATATCCGTTTGCTGTGGAGGTGGGGTTGACAGAGGAG AGAACCGAGGCCCAAGAGGTGAAGCAGCTTGTCTGAGGTCACCCCGGGCG ACCAGGATGCAGGCCTGCAGATGTGCACTTTGGAGCTCTGCCTGGAGCTG GGGTGGAGGAGCCTGCCTGCTGCCTCGTGCCCTCTGCCGGGCCTGGGGGA TGTCCCAGGCCCAGGGCTGGCTGCTGTCCTCCTGCTCCTCTTGCTGGAGT AAGCAGGGCCTGGGGTTTGTTAGCAGCAGCGGCAGCAGCAGGAGCAAGGC TAGGAGGCTGGAAACAAGCCACATCCCAAAATAGCTCTGATAACCATGGG GCAGGAGGGCCCAGCCAAGCCTCAGCCCTGACAAGCACAGCCTGCAGCTG GCCTCCCTCCCCACTGGGCCTGGGCTCAGTCCCTGGTTTCCACTGATGGC CTGTAAGGCCCACTCACTCTAGGCTTTGTGGCCCACCTGAGAAGTGGGAG GCTGGCCTGGGAGATGGGACCCTGTGACTCAGAACCCGAGGCTGTGTACA GCCCCCGTGGCTGGAGGTGGTCACAGAGGCCTGGCAGGATAGGTGCACTG GAGCAGGGGGAGGTGGCGGGAGTGGACGGCAGAGGTTGCTGCAGGCTGGC AGGAGGCCCCTGGGACCTCAGTTCTGTGCCAGGATCTGTCGGGGAATACC AGGGGTGAGCAAGTATGGAGATGGGGTGGCAGGGTGTCACCCTGGGCAGG CTCTTTTATGGGCATGTGAGGGGGTCAGGGTGGGGTCTCAAGACCTTTCC TCCAGAAACTTCAGCCCAGCAGCGCCCGTTCTTGAATCCTGGGGTTGGCC ATGAGCAGGTGGGACAGAAATAGCAACAGCTGGAGACGTGTGACCTTGAA ACCGGGGCACTCTGCTTGGTGGGGAGCTGCTGGAGCCTCCTTAAGGTGGT TGGGGTGGGGAGCCAGGTTCTGATGCCCCCCCCGCCCCCCCACCCCCCCC AATCCCCCGCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCCACTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA18906.hp2 HG02630.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0051 a0001c0002t0016g0052 a0001c0002t0016g0051 a0001c0002t0016g0052	2	280	0.0071	-1049	c.53 others(11): Show c.5324_*6372del		TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding				3197		chr15	TogoVar
B3GNT4_chr12_122198709_122213952	122212905	GTGAGCCA others(1040): Show GTGAGCCACTGCGCCCGGCCATTTTTTTGTTTTTAAGACAGGGTCTTGCT TTGTCAACCAGGCTGGGGTACACTGGCCTGATCATGGCTCACTGCAGCCT CGACCTCCAGGGCCCAAGTGATCCTCTCACCTCAGCCTCCCAAGAAGCTG GGACTACAGGCGCCCATCACCATGCCTGGCTAATTTTTTTGTAGAGACAG GGTTTCATCGTGTTGTCAAGTCTGGTCTCGAACTCCTGAGCTCAAGTGAT CCACCTGCTTAGGCATCCCGAAGTGCTGGGATTACAACAGGTATGAGCCA CTGCACCTGGACCAGATTTTTGGTTAAAAAAGTGAAATCATAAGGCCGTG CACAGTGTCTCATGTCTGTAATCCCAGCAGTTTGAGAGGCCAAGGCGGGT GGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGACAACATGGCAAAA TCCTGTCTCTACCGGAAACATATAATCCCAGCTACCTGGGAGACTGACAT GGTAGGATCGCTTGAGCCCAGAGGCTAAGGCTGTAGTAAGCAGTGAGCCA TGATTGTGCCACTGTACTCCAGCCTGGTAACAGAGTAAGACCTTGTCTCA GGGAAAAAAAAAAAAAAAATTCCGTTTACAACTTTGTTAGCCCTTTCTAT GAGTTCTAGGAAAATGTCTACTTTTCTCAAATAATGCTTATACATCCCCT CCTTTTCTCCTTCTAGATATTCTCCTTTTCTCCTTCTAGATATAAGCATA TCCTCCTGTTCACTGCACCTAGAAATCCTCTGCCATGTTTGTGTGGCACA ACTATAATGCTGCTTCCACACTTCCGTTGTTTCATTCTTGTTCCAAATCT CTGATCCCTCAGGATCACTACTTTTTCTCAGGATCACTACTTTTTCTGGG CCAAGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGG CAGGCAGATCACCTGAGATCAGGAATTCAAGACCGGTCTGGCCAACATGG TGAAACTCCGTCTCTACTAAAAATAAAAAAATTAGCCAGGCATGGTGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	412	0.0024	-1047	c.55 others(11): Show c.5518_*6564del		B3GNT4	ENSG00000176383.9	transcript	ENST00000324189.5	protein_coding				3954		chr12	TogoVar
CCDC38_chr12_95862048_95947614	95946567	TAAGAGAC others(1040): Show TAAGAGACTGCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCCACGGTCTCCCTC TCATGCGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGGCTCACTGCA ACCTCCCTGCCTGATTCTCCTGCCTCAGTCTGCCGAATGCCTGTGATTGC AGGCACGCGCCGCCACGCCTGACTGGTTTTGGTGGAGACGGGGTTTCGCT GTGTTGGCCGGGCCGGTCTCCAGCCCCTAACCGCGAGTGATCCGCCAACC TCGGCCTCCCGAGGTGCCGGGATTGCAGACGGAGTCTCGTTCACTCAGTG CTCAATGGTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTACA ACCTACACCTCCCAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGC AGCCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCC TGGCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAG TCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGT GAGGAGCGCCTCTTCCCAGCCGCCATCACATCTAGGAAGTGAAGAGCCTC TCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCC GCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTG GGAGGTGAGGAGCGTCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGA CCCTCTGCCTGGCAACCACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCC GGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACC CCATCTGGGAAGTGAGGAGCGTCTCCGACCGGCAGCCACCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGGA GGGAGGTGGGGGGTCAGCCCCCCCGCCCGGACAGCCGTGCCGTCCAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0005 others(16): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0014 a0002c0003 a0002c0004 a0002c0012 a0002c0019 a0003c0006 a0003c0013 a0003c0020 a0004c0009 a0004c0017 a0005c0010 a0006c0011 a0007c0015 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0014t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0012t0001 a0002c0012t0002 a0002c0019t0002 a0003c0006t0001 a0003c0006t0002 a0003c0013t0002 a0003c0020t0002 a0004c0009t0001 a0004c0009t0003 a0004c0017t0001 a0005c0010t0001 a0006c0011t0001 a0007c0015t0001 a0009c0018t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0070 others(280): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0164 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0229 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0002g0269 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0329 a0001c0005t0001g0021 a0001c0005t0001g0033 a0001c0005t0001g0036 a0001c0005t0001g0040 a0001c0005t0001g0065 a0001c0005t0001g0068 a0001c0005t0001g0069 a0001c0005t0001g0078 a0001c0005t0001g0079 a0001c0005t0001g0087 a0001c0005t0001g0089 a0001c0005t0001g0091 a0001c0005t0001g0186 a0001c0005t0002g0276 a0001c0005t0002g0277 a0001c0005t0002g0278 a0001c0005t0002g0307 a0001c0005t0002g0308 a0001c0005t0002g0337 a0001c0005t0002g0342 a0001c0007t0001g0098 a0001c0007t0001g0099 a0001c0007t0001g0101 a0001c0007t0001g0102 a0001c0007t0001g0176 a0001c0007t0002g0332 a0001c0008t0001g0015 a0001c0008t0001g0017 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0008t0001g0038 a0001c0008t0001g0039 a0001c0008t0001g0071 a0001c0008t0001g0178 a0001c0008t0001g0179 a0001c0008t0001g0180 a0001c0014t0001g0128 a0002c0003t0001g0022 a0002c0003t0001g0043 a0002c0003t0001g0116 a0002c0003t0001g0121 a0002c0003t0001g0124 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0002g0006 a0002c0003t0002g0271 a0002c0003t0002g0286 a0002c0003t0002g0287 a0002c0003t0002g0288 a0002c0003t0002g0289 a0002c0003t0002g0291 a0002c0003t0002g0292 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0297 a0002c0003t0002g0298 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0003t0002g0301 a0002c0003t0002g0302 a0002c0003t0002g0303 a0002c0003t0002g0304 a0002c0003t0002g0310 a0002c0003t0002g0311 a0002c0003t0002g0312 a0002c0003t0002g0313 a0002c0003t0002g0314 a0002c0003t0002g0315 a0002c0003t0002g0316 a0002c0003t0002g0317 a0002c0003t0002g0318 a0002c0003t0002g0319 a0002c0003t0002g0320 a0002c0003t0002g0323 a0002c0003t0002g0324 a0002c0003t0002g0325 a0002c0003t0002g0326 a0002c0003t0002g0327 a0002c0003t0002g0328 a0002c0003t0002g0335 a0002c0003t0002g0336 a0002c0003t0002g0339 a0002c0003t0002g0340 a0002c0004t0001g0001 a0002c0004t0001g0034 a0002c0004t0001g0035 a0002c0004t0001g0037 a0002c0004t0001g0074 a0002c0004t0001g0076 a0002c0004t0001g0077 a0002c0004t0001g0080 a0002c0004t0001g0082 a0002c0004t0001g0083 a0002c0004t0001g0084 a0002c0004t0001g0090 a0002c0004t0001g0119 a0002c0004t0001g0125 a0002c0004t0001g0126 a0002c0004t0001g0127 a0002c0004t0001g0129 a0002c0004t0001g0130 a0002c0004t0001g0131 a0002c0004t0001g0132 a0002c0004t0001g0133 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0174 a0002c0004t0001g0175 a0002c0004t0001g0238 a0002c0004t0001g0239 a0002c0004t0001g0240 a0002c0004t0001g0241 a0002c0004t0002g0283 a0002c0004t0002g0290 a0002c0004t0003g0013 a0002c0004t0004g0343 a0002c0004t0004g0344 a0002c0012t0001g0081 a0002c0012t0002g0321 a0002c0012t0002g0322 a0002c0019t0002g0309 a0003c0006t0001g0113 a0003c0006t0001g0118 a0003c0006t0002g0005 a0003c0006t0002g0258 a0003c0006t0002g0259 a0003c0006t0002g0261 a0003c0006t0002g0262 a0003c0006t0002g0263 a0003c0006t0002g0265 a0003c0006t0002g0268 a0003c0006t0002g0270 a0003c0006t0002g0285 a0003c0013t0002g0251 a0003c0013t0002g0257 a0003c0013t0002g0260 a0003c0020t0002g0252 a0004c0009t0001g0135 a0004c0009t0001g0137 a0004c0009t0003g0007 a0004c0009t0003g0008 a0004c0009t0003g0009 a0004c0009t0003g0010 a0004c0009t0003g0011 a0004c0009t0003g0012 a0004c0017t0001g0134 a0004c0017t0001g0136 a0005c0010t0001g0242 a0005c0010t0001g0243 a0005c0010t0001g0244 a0005c0010t0001g0245 a0006c0011t0001g0060 a0006c0011t0001g0199 a0007c0015t0001g0041 a0007c0015t0001g0169 a0009c0018t0001g0086	287	350	0.8200	-1047	c.-51 others(11): Show c.-5198_-4152del		CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding				3954		chr12	TogoVar
RAP1GDS1_chr4_98256384_98448858	98342015	TGTTGTTA others(1040): Show TGTTGTTAATTCTTTTATTTTAACCAGTTTCTAGTCTTCATTCCCCAAGT AGATTTTAGCGCTCATAATGGATTGGGACCCACAGTTTGAAAAACTGTAT TAAACAATCAGCACTTATTATAAAGAAATATGTTACGTACTTTTTTGTGG ACTTTCTCAAATTATAAAAAATGATTTTCCTCCTCTTTACTGATCACATC AGCTGCCATTTAGTTAACAAGAAATTTTTAGGGTTCTCTATTATTTGTAT GTATATCCAAGAATCTAAAGGACATAGAGGAGCTACATATAGAAACAAAT TTCAATTGAATGTTTTAATGAGCCTTATAACCTCTAGCTTTAAACACATG CCATTTCTCTTCATTGTTCACAAATAATAATTTTATTTCTTTGAGCTTTT CTTTATTTTTAACATATTTTAATAGGTCATTCTTTCAGTAACATACATGA AGTAGCTTGTTTTTATAGGCCCATTATTTGTATTTTAACAAGGAAAGGAA AGAAGTGGGGGCCTCTTGAATTTCTGTATCACCAAATAGAGTTCAGAATA CTATGGGTTTTTGCAGTGTACTATTTCTCTTCTTCATTAATGGTGATGTG AATGAGTTGCATGAAAAACATAGGAGTCATAGGAACCATGTAATCCCTTG ACTATCACTTTTCATTCCGTATAAAATGATAGGAGGTGAGTTTTTTGCCT AATTGCCATTTTTTAAAGTTGCTATGGCATTATAGGGAACCATAGAGTTT ATATAAAGTGATAGCTCTTAGAATTCAGAAGAGATGTAGAAAAAAAGCAT TTATATTCTGAATAGACAGGGTTAGAACTAACATTGAGAGTAAGTTTGGT ATGCAAATGATATATTCAGAAAGAACTTCTTTATAGTCTGACTGTAAATA AACAAAATATTATATTATCAAGTGTTTTGTGCCGATTAAAACTCAAAATA AAAGCAGCTTGTGGAGCAGAAGGTAATTTTGTATAAAGACATATATTTGA ATGTATACCGAAACTAATTTCTATTATGGGTGGGAAAAATTCTTGAAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	242	0.0041	-1047	c.113 others(15): Show c.113-1123_113-77del		RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	2/14					chr4	TogoVar
XXYLT1_chr3_195063284_195276159	195065607	GCGGGCCA others(1040): Show GCGGGCCAGGGTGTGATCTGTTGGCGGGCCGGGGTGTGATCTGTTGGCGG GCCGGGGTGTGATCTGTCGGCGCTCTGTGATCTGTCAGCGGCCTGGGGTG TGATCTCTCAGCGGGCTGGGGTGCCTGTGCGGTGATCTGTTTGCGGGCTG GGGTGTGAGCTGTCGGCGGTCTGGGGTGTGATCTGTCGGCGGTCTGGGGT GTGATCTGTCGGCGGTCTGGGGTGTGATCTGTCAGCGGGCTGGGGTGCCT GTGCAGTGATCTGTCGGGGGGCTGAGGTGTGATCTGTGGGCGGGCTGGGG TGACTCTGCAGTGATCTGTCGGCAGGCTGGGGTGTGATCTGTCGGGCTCG GGTGTGATCTGTCGGCGGGCTGGGGTGCCTGTGCAGTGATCTGTCGGTGG GCTGAGGTGTGATCTGTGGGCAGTTTGGGGTGCCTGTGCAGTGATCTGTT GGTGGGCCGGGGTGTGATCTGTTGGCGGTCTGTGGTGTGACCTGTCAGCG GTCTGGGGTGTGATCTGTCAGCGGGCTGGGGTGCCTGTGCAGTGATCTGT TGGTGGGCTGGGTGTGATCTGTTGACGGGCTGGGGTGTGATCTGTCAGTG GGCTGGGGTGTGATCTGTGGGCGGGCTGGGGTGCCTGTGCAGTGATCTGT CGGCGGGCCGGGGTGTGATCTGTGGGCGGGCTGGGGTGCCTGTGCAGTGA TCTGTCCGCAGGCTGGGGTGTGATCTGTCGGCGGGCTGGGGTGTGATCTG TGGGCAGGCTGGGGTGCCTGTGCGGTGATCTGTCGGGGGGCTGGGGTGTG ATCTGTGGGCGGGCTGGGGTGCCTGTGCGGTGATCTGTGGGCGGGCTGGG GTGCCTGTGAAGTCATCTGTCGGTGGGCCGGGGTGTGATCTGTCGGCAGG CTGTGGAGTGATCTGTCGGTGGGCTGGCTGCCTGTGTGGTGATCCGTCGG CGGGCTGGGGTGCCTATGTGGTGATCTGTCAGCAGGCTGGGGTGTGATCT GTCTATGGGCCAGGGTGTGATCTGTTGGTGGGCTGCAGTGTGATCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01928.hp2 others(25): Show HG00280.hp2 HG00639.hp2 HG01928.hp2 HG02056.hp2 HG02074.hp2 HG02165.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02886.hp1 HG02976.hp1 HG04199.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp2 NA19056.hp1 NA19063.hp1 NA19066.hp2 NA19085.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 a0001c0001t0029 a0002c0002t0004 a0002c0002t0007 a0003c0005t0007	a0001c0001t0002g0126 a0001c0001t0004g0006 a0001c0001t0004g0098 others(25): Show a0001c0001t0002g0126 a0001c0001t0004g0006 a0001c0001t0004g0098 a0001c0001t0004g0110 a0001c0001t0004g0128 a0001c0001t0004g0139 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0157 a0001c0001t0004g0190 a0001c0001t0007g0090 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0008g0022 a0001c0001t0008g0030 a0001c0001t0008g0138 a0001c0001t0008g0171 a0001c0001t0023g0197 a0001c0001t0023g0198 a0001c0001t0029g0112 a0002c0002t0004g0011 a0002c0002t0004g0023 a0002c0002t0004g0050 a0002c0002t0004g0147 a0002c0002t0004g0184 a0002c0002t0007g0153 a0003c0005t0007g0089	28	198	0.1414	-1047	c.30 others(11): Show c.3061_*4107del		XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding				2676		chr3	TogoVar
FAF1_chr1_50432028_50965267	50636868	ATGGCATA others(1039): Show ATGGCATAAGGTAAAAGTTGAAGTTATCTATCTTTACTGATATCCAGTTG CCTCATCGCCATTTGTTAAATAAAGAACAAACTGTCTCCACCGCATTACT TTGTTATCTTTGCACAAAACCAATTAACAGCACATACATATGGATCTATT CCTGAACACTCTATTTTACCTATTGATTTATGTCTGTCTTTACACAAATA TCACATTGTATTGAATATTATAGTAATATTTTTTGAAATCAGGGAGTGTA AGTCTTCCAATTTTGTTCTTTTTGAAAACTATTTTAGGCTGGGCATGGTG GCTCACATCTGTAATCCCAGCACCTTGGGAGGCCAAGGCAGGTGGATCAC CTGAGGTCAGGAGTACGAGACCAGCCCAATAAACATGGTAAAACCCCATT TCTACTAAAAAAAAAAAAAAAAAAAAAATACAAAAATTAGCCAGGTATGG TGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATC GCTTGAACTTGGGAGGTGGAAGTTGCAGTGAGCCAAGATCGCGCCATTGC ACTCCAGCCTAGGTGACAGAGCAAGACTCCGTCTCAAAAAAAGAAAACAA AAAAAAAAACCCAGAAAATTGTTTTAGGAACACTAGCTCTTTCACATTTC CATACAATTTTTGGAATTAATTTGCCAATTTCTATGAAAAATGCTATTGA GATTTTGATTGGCATTGCAGTGAATCCATAGCTGTCTGGGAGGAGGTACT GCCTTAAAAATACTGAATGTAGGCCAGGCTCTGTGACTCACTCTGTGGCT CACACATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTG TGCATATGTGTGTATACATATATACACATATATATATAGTAATGAAGTCC AATTTACCCATTTTTTCCCTCTTATAAGCTTTTAGTGTCCTCTCTCAGAA ATTTTTTCCTATCCCAAGATTTTCTCCTATATTTTCCCCAAGTTTAATAG TTGTAGCTTTTGCATTTAAGTCATCTCTGATCTAAGATAAATTTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02027.hp1 HG02129.hp1 HG00544.hp1 HG02027.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173	3	190	0.0158	-1046	c.744 others(19): Show c.744+17528_744+18573del		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	8/18					chr1	TogoVar
ADARB2_chr10_1172313_1742525	1237928	CCCTCCCG others(1038): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGC ATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGG TGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTC CCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0023 a0001c0001t0023g0023	1	106	0.0094	-1045	c.136 others(19): Show c.1361+3158_1362-4084del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9					chr10	TogoVar
AS3MT_chr10_102864470_102906899	102891949	AAAAAAAA others(1037): Show AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAGGCTAGAGAGAGAAATG GTTTCAAAGGAAAACTATAACACTTGTTACTAGATTTCCAGCCTGGACTT TTGTTTTTGAGTGCATATTGAATCATTAATTATTTCTTGGCTACAATAAC CCTCTAAAGATAAACCAGGTTATAATTTTTCTTCATGTTTTTAGTTTGTG CCCTAAGTGGAATAGGTTCCTTATTCTGTTCTGACACACGAATACTCTTT TGACTGTCATATTATTAATGTTATTTATAGCTCCTTGTTTTACTTCCAAA GAAACCAGAATCATGATATTCTAAGGTTAGAGAATCCCCCGTTTGGAATC CCACTGGTCCTAATCTGCTTTTCACTGCAAATTCCGTGCTGCTAAAATTA TATAAGCACTCTTCTCTAGGCCCAGGGACCTATCACACAAAAGGTAGGTG TGTGAGACTGTAAGGGCCAGTTTTGAGAGAATTATTTCAGACTCTCCAAA TCAAAAATGGGCACACAGATGCATAAACAGCTGGTAAAATAAGGGACTCT GCCTCCTGGGTTATTATGTGTGTGGCACCTTTTCATCCATCCCAATCATA AAGAATTTCCTGCTTCTCGTAGAATGAAAAGAAAATTATTACTGAGAGGA TATAAAGGTACCTCATGTCAAAGCCTCCTAGGTTTAATACTCTGAGTTAT GAGATTTATGCAGATAACATATATATTTTTTAAAATTTTAGAACAGGCCA GGCACAGTGGCTCAAGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGG GCAGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGA CACCCCATCTCTACTAAAATACAAAAAATAAATTAGATGGGCATGGTGGC GTGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTT GAGCCCGGGAGGCGGAGGTTGCAATGAGACGAGATTGAGATGGCGCCACT GCACTCCAGCCTGGCAACAGAGTGAGACTCTGTCTCAAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18974.hp2 NA19058.hp2 others(1): Show NA18951.hp2 NA18974.hp2 NA19058.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0127 a0001c0001t0002g0143 a0001c0001t0015g0142 others(1): Show a0001c0001t0002g0127 a0001c0001t0002g0143 a0001c0001t0015g0142 a0001c0001t0015g0152	4	362	0.0111	-1044	c.102 others(19): Show c.1020+1275_1020+2318del		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	10/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPC_chr4_67463762_67550503	67487225	TACCTAAT others(1037): Show TACCTAATAGCACAGTTTATATAGAAAAGGCAGAATCAGTTGTTAAAGTG AGTTGGCTTCCTAGAATCCTCCAACAGTAACAAATTTTTGTTGTAGTAGT AGTAGTAGTAGTCTTAGAAATTCATGGATTTAGATATAATTGATACATAT CAATCTACTGAAGTTATTCTTGTTAATACTCAAGTTTCATATCCTTAGCC AGCCAGTGGTAGCATCTTCAAGTTGGAACCTGAAACATGACCCAATCTTA ATGGTTTCTGATTAGTAGTTTGCTATCGATTCCAAGCTCAGTTTCAGGCC TAGAATCAGGCATTCCTCCAAGGAACTGGTTCTTTTAAGTAGGTTGCTGT CACCTTTTTGTTTTTTTAGCTCTGAAACATTTGTCTAATTTTAAAAATAT TCTCAACCATTTTTCATTGGGTTTTTTCTCTCTCCTGAAATTCTTATTAT TTGTATTTAGGCATGCTTTTCTCTCTTCTCTACATTATTTAACTTTAATA TTTTCTACTTTTTAATTTCCTTCTTGTCTCCTGGGAAGTTCTACAACCAG CTCTCATAATTAATATGTAAATTCTTCTGTAGTTTGATTTTAATAAACCT ACTACTCTTCTCTTTTAAATATTCTCTAGCAGTGTTTGAAAGAGAGTTAA TGGCCTATGCTGGTTCTCCATCTTGTCCTGTTTATTATCTTTTTCAAAAG CATATATTTGTAAGTGTGCTTCATGTTTTAAAATGTAAAAATACGAGTCT TATTAAAAAAAACTTCAGCTTTAATTTTCATTTATTTTCATTATAAAAAG TTAAAGGTAATATATAGAAGAAATAAAATCAACTAAAATAACTACATAAT CACAGAGTAAAACATGTATTCTCTTCAAGATTTTATTTACATTTTTAAAT TCTAGTTAGAAAAATAGATACTATATACAAAGAACTTTTATCTTGCATAT TTGCTTAAACATTTATCCCAAGGGTCTTCATATATGGCTGTTCTTCAAAA TAAAATGCTCAAACTAATTTTAATGTGCTTAGTGCAGTACCTGGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG01891.hp1 others(2): Show HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG03486.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0013 a0001c0001t0025 a0007c0009t0014 a0001c0001t0013 a0001c0001t0025 a0007c0009t0014	a0001c0001t0013g0090 a0001c0001t0013g0091 a0001c0001t0025g0251 others(2): Show a0001c0001t0013g0090 a0001c0001t0013g0091 a0001c0001t0025g0251 a0007c0009t0014g0245 a0007c0009t0014g0246	5	338	0.0148	-1044	c.267 others(19): Show c.2670+1698_2670+2741del		CENPC	ENSG00000145241.11	transcript	ENST00000273853.11	protein_coding	17/18					chr4	TogoVar
DOC2B_chr17_137789_186650	170815	CAGCACCA others(1037): Show CAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGC CAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGG CTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGG CTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCA GGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGC AGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCA GGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCT GCAGAGGGCGGCACCAGGGGCCGGGCCAGGTTGCAGAGGGGAGCACCAGG GGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAG AGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGG CCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAG GGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCC GGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGG GAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGG GCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCA GCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCA GGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGG CTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	339	0.0030	-1044	c.453 others(16): Show c.453+678_453+1721del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8					chr17	TogoVar
FAM149A_chr4_186099704_186180337	186172333	CTAGGAAT others(1037): Show CTAGGAATATGTCATTTGTAACTTTGTACTCTGACGTATTTTCTAGTCTC ACCCTATTAGTAATTCTGTCAAAATCCTAGACGCTAGTAGATATTAGTAT TTGAGACAATATGTCAGAGTCTGAATAAGACTCAGCTTGTTCTAGTCATG CTGAGTTTCTCATATATTTTTTAAAAGTGCTTCCGCCATGAACCTCTTTG AGAAATGTCAGTGGCAAAATCTCCCAAGCTAATTTTCTTTTTCTATGTTC CATCTTCAAATTCAGACAGTTCACGTGAAGTACCCCACATTTATTGATCT TAGGGTTGAATATAAACGCAATTAAAAGCTATGGCAGGTGATGTCATCTT TATTGTTTACAGTCGAAGCTCCTCCATGGGAGGGGAGCCTCCCACCCTCC ACGTGCCATCAGGAGCTGGCCTTTGCCCAGACGCCACCACTGCAATGACA CCTTCCCAGAGCCCTCGTCTCCTCGCGCTCTGTCCTGCTCTGCCTGGCTT TTCTTCAGAGTGTGTTTCCCCATCTGACATTACTGTAGAAAATGGAGCAG AGAACAGGAAGGGGAATTAGCAGAGATGAGGCTCCAGGCATGTCTTCCTC TTGTCCCTCTCCCCACTGTTTCTCTTGATTGTGATTCAAGTCCTTACACT CATTTTTACATTCTCAAATCTCAAATCAGCTAATTTCCTCTTTTCTATCA GATAATTGCATTTCATCAGTCTAATTTTTACTAATCCAAACTGTAACTTT ATAAGGCTATATATATGAGCATATTTATAAACTTAGATTTATAAACTATA TACACACATATATGTATCATATAAATGCATAATAAATTACTTTCAGACTA TTTCTGGCTGTAAGGAGAAGGGATCATTGCCTACTAGTAGATGTCTGAAA TTTTAAAAGATGTGTTGAGACTAACATTAATGTTGTCCTTTATCACAGGG TGACAAAAATGACCCAGAGCCTTGCCTCTGTTTGAAAATTTCTCCTTGAC TTTGCTGACTCCATTTCTTTTTTCTTTTCTTTTTTTTTGAAACGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(95): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02258.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19077.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0013 a0014 a0018 a0021 a0029	a0001c0001 a0001c0005 a0001c0010 others(12): Show a0001c0001 a0001c0005 a0001c0010 a0001c0014 a0002c0004 a0002c0007 a0004c0003 a0004c0008 a0005c0006 a0006c0023 a0013c0027 a0014c0017 a0018c0061 a0021c0046 a0029c0041	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(26): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0077 a0001c0001t0082 a0001c0005t0001 a0001c0010t0021 a0001c0010t0064 a0001c0014t0016 a0001c0014t0059 a0002c0004t0001 a0002c0004t0010 a0002c0004t0081 a0002c0007t0001 a0002c0007t0011 a0002c0007t0021 a0002c0007t0053 a0004c0003t0006 a0004c0008t0006 a0004c0008t0034 a0005c0006t0001 a0005c0006t0006 a0005c0006t0025 a0006c0023t0001 a0013c0027t0065 a0014c0017t0006 a0018c0061t0025 a0021c0046t0016 a0029c0041t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(94): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0234 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0006g0030 a0001c0001t0006g0380 a0001c0001t0010g0333 a0001c0001t0010g0335 a0001c0001t0010g0337 a0001c0001t0010g0360 a0001c0001t0010g0377 a0001c0001t0010g0378 a0001c0001t0077g0083 a0001c0001t0082g0044 a0001c0005t0001g0136 a0001c0010t0021g0240 a0001c0010t0021g0241 a0001c0010t0064g0251 a0001c0014t0016g0004 a0001c0014t0016g0010 a0001c0014t0016g0011 a0001c0014t0059g0006 a0002c0004t0001g0001 a0002c0004t0001g0120 a0002c0004t0001g0150 a0002c0004t0001g0258 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0004t0010g0318 a0002c0004t0010g0350 a0002c0004t0081g0053 a0002c0007t0001g0264 a0002c0007t0011g0239 a0002c0007t0011g0252 a0002c0007t0011g0255 a0002c0007t0011g0262 a0002c0007t0011g0263 a0002c0007t0011g0272 a0002c0007t0011g0274 a0002c0007t0021g0273 a0002c0007t0053g0302 a0004c0003t0006g0218 a0004c0008t0006g0159 a0004c0008t0006g0166 a0004c0008t0006g0189 a0004c0008t0006g0192 a0004c0008t0006g0213 a0004c0008t0006g0215 a0004c0008t0006g0235 a0004c0008t0034g0172 a0004c0008t0034g0175 a0005c0006t0001g0385 a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0025g0015 a0006c0023t0001g0126 a0013c0027t0065g0198 a0014c0017t0006g0191 a0014c0017t0006g0195 a0018c0061t0025g0246 a0021c0046t0016g0003 a0029c0041t0001g0045	98	390	0.2513	-1044	c.34 others(10): Show c.347_*1390del		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14			347		chr4	TogoVar
LPP_chr3_188149157_188895671	188247277	CTGAGGCT others(1037): Show CTGAGGCTATTTTTAGAGCCTTCATCTGGTTATAGACTAGTTGGTAGGAG AGCAATACCTTTGAAAAGTTAAGAAATAGTTTTATACACTGTGTTAAGGA TGTTGTCAAAACTAATACTTGTGTATGCAAAGACTTTAACATTTATTAAT AATTTTTTCTATAGATTGGTGAAATTGGTTTGTAATTTTTGTCATTTCAC TTTTGTGGAAATTGAGCAAAAGTGAGAGATAAAATGATGTGATCAGGCTG GGTGCGTTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGG GCGCCTGAGGTCTGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCC TGTTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGCCTG TAATCCTAGCTACTTGGGAGGCTGAAGCAGGAGAATCGCTTGAACTTGGG AGGTGGAGGTTGCAGTGAGACGAGATTGCGCCATTGCACTCCAGGCTGGG CGACAGAGTGAGACTCCATCTCAGAAAAAAAAAAAAAAAAAGATGTGATC AATATCAATCTAAGGACACTGTAAAGCAGCAGAGGATTGACGATTTTCCT AAGACTTAGTGGATGTAGAAGAGTTTAAAATATTCTAGCCTAGTGGTTTG CAAACTTGGCCACATATTAAAATCTTCAGAGGAACTTTATGCTACAATGC TCATCTCAGTCACAGTGTCTGTGGGTGAGACCCAAGCTCAGTTACATTTT AAAGCTCCCGAGAGTTTAGAACTATTGATCTAGTCTTGATTTCGTATCAA TTTCTCTGATGGTATCTTGCTTGACATCTTACTTACTGGGCTGCATTTTT GTGCTGTGTCTCCCTGACACCCAAGTGAAAACTGCTGGATGAACCGAAAA TTCACCCAAACAACGTGAATGTAATGGAAACTCTTGAAAAGGCTTACAAG CCTTGAAGTAAATGTTGGGCGAAGGGAGCGAAAGGGTTAGCGTTTTTTTG CATTGGGACCTGCCTTCTTTTTATGCTTCTAGGAACGTTTAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0014 a0007c0012t0014	a0007c0012t0014g0045 a0007c0012t0014g0045	1	76	0.0132	-1044	c.-67 others(19): Show c.-67+21755_-67+22798del		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	2/11				INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 2609 hits)