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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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DPH7_chr9_137549444_137583925	137567928	G G	GGGGTGAC others(837): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTCAGGAAGCTCC CCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01261.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0118 a0001c0001t0001g0119	2	340	0.0059	844	c.641 others(861): Show c.641-2775_641-2774insAGGGGAGCTTCCTCACAGACAGAGTCAC CCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTC ACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGG GAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTC ACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCAC GGACAGAGTCACCCAGGGGAGCTTCCTGACAGACAGAGTCACCCAGGGGA GCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCAC CCCGGGGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGAC AGAGTCACCCCGGGGAGCTTCCTCACAGAGTCACCCAGGGGAGCTTCCTC ACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGA GCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTC ACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCAC AGACAGAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGA GCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCAC CCCGGGGAGCTTCCTCACAGAGTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTC ACAGACAGAGTCACCC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(837): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCACCACCA CAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACCACCACC ACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATC ATCACCACCTCCACCACCACCACCATCACCCCCCCATCACCTCCACCACC ACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAATCTCCACC GCCAGCATCACCACCATCACCACCACCACCACCACAACTACCCCCACCAT CACCTCCATCACCTCCACGACCACCACCACCATCATCACCTCCACCACCA TCACCACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCA TCACCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCACAACTTCT ACCACCACCACCCCCACCACCACCAGCACCACTATCACCACTATCACCAC CACCCCCACCATCACCTCCACACCACCTCCATTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0027 a0001c0027t0027	a0001c0027t0027g0007 a0001c0027t0027g0007	1	38	0.0263	844	c.113 others(863): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCAC CACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACCA CCACCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAAC CCATCATCACCACCTCCACCACCACCACCATCACCCCCCCATCACCTCCA CCACCACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAATCT CCACCGCCAGCATCACCACCATCACCACCACCACCACCACAACTACCCCC ACCATCACCTCCATCACCTCCACGACCACCACCACCATCATCACCTCCAC CACCATCACCACTATCACCACCAACCCATCATCACCACCTCCACCACCAC CACCATCACCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCACAA CTTCTACCACCACCACCCCCACCACCACCAGCACCACTATCACCACTATC ACCACCACCCCCACCATCACCTCCACACCACCTCCATTACCTCCACAATT TCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
FHL5_chr6_96558128_96623626	96607286	T T	TTCAAAGT others(837): Show TTCAAAGTATTTTTTTTTTTTTTTTTTTTTTAAAATGAAAATCTATGAAG AAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATACATTTGTA AAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCATTACTG TTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAGGATGAT AAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGCTTTCCAG GGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGGAGTTTGA ATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGGTCGTCT ACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGCTTAATG AAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATATCTACT CATGTGTGTATATGTATGTGTGTACACACACACACACACATATATATGAA GGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAGCAAAGA ATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAAGAATGT CCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAATGAGATG TGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCAACAACA CATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAACCCGTGG GCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGATGTTCCG ACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0240 a0001c0001t0009g0240	1	378	0.0027	844	c.504 others(861): Show c.504+1229_504+1230insTTTTTTTTTTTTTTTTAAAATGAAAATC TATGAAGAAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATAC ATTTGTAAAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTC ATTACTGTTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAA GGATGATAAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGC TTTCCAGGGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGG AGTTTGAATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATG GTCGTCTACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAG CTTAATGAAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCAT ATCTACTCATGTGTGTATATGTATGTGTGTACACACACACACACACATAT ATATGAAGGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAA GCAAAGAATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGA AGAATGTCCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAA TGAGATGTGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTC AACAACACATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAA CCCGTGGGCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGA TGTTCCGACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGG GGTCAAAGTATTTTTT	FHL5	ENSG00000112214.11	transcript	ENST00000450218.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
FHL5_chr6_96558128_96623626	96607286	T T	TTCAAAGT others(837): Show TTCAAAGTATTTTTTTTTTTTTTTTTTTTTTTAAATGAAAATCTATGAAG AAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATACATTTGTA AAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCATTACTG TTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAGGATGAT AAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGCTTTCCAG GGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGGAGTTTGA ATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGGTCGTCT ACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGCTTAATG AAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATATCTACT CATGTGTGTATATGTATGTGTGTACACACACACACACACATATATATGAA GGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAGCAAAGA ATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAAGAATGT CCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAATGAGATG TGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCAACAACA CATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAACCCGTGG GCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGATGTTCCG ACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02630.hp1 HG02723.hp2 others(1): Show HG00733.hp2 HG02630.hp1 HG02723.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0009 a0004c0005t0001 a0001c0001t0009 a0004c0005t0001	a0001c0001t0009g0053 a0001c0001t0009g0056 a0004c0005t0001g0057 others(1): Show a0001c0001t0009g0053 a0001c0001t0009g0056 a0004c0005t0001g0057 a0004c0005t0001g0059	4	378	0.0106	844	c.504 others(861): Show c.504+1229_504+1230insTTTTTTTTTTTTTTTTTAAATGAAAATC TATGAAGAAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATAC ATTTGTAAAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTC ATTACTGTTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAA GGATGATAAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGC TTTCCAGGGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGG AGTTTGAATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATG GTCGTCTACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAG CTTAATGAAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCAT ATCTACTCATGTGTGTATATGTATGTGTGTACACACACACACACACATAT ATATGAAGGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAA GCAAAGAATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGA AGAATGTCCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAA TGAGATGTGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTC AACAACACATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAA CCCGTGGGCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGA TGTTCCGACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGG GGTCAAAGTATTTTTT	FHL5	ENSG00000112214.11	transcript	ENST00000450218.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	376	0.0027	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	376	0.0027	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	376	0.0027	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	376	0.0027	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGCTGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	376	0.0027	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0031 a0001c0001t0011g0031	1	376	0.0027	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	376	0.0027	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFT88_chr13_20562157_20696444	20695443	A A	AAGACCAT others(837): Show AAGACCATCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAAATACA AAAAATTAGCCAGGCGTGATGGCAGGCACCGGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGGATCACTCGAGACCAGGACTTCAAGGTTACAGTGA GCTGGGATTGCACTCCAGCCTGGGCAACAGAAGGAGACCCTGCAACTCAA CTCAATCCTTGACTGGATTGAAGTAATTAGTCCTGAATTCTCTCTGCCTA AGAGAGGAAAGAGGACCTTTCTATGGTAAGAATATCATTTGCAGTCTCTA TGGTTCTTAAATATACAATGCTTGGCATGTAATAAAATTACTGTGGCTGG GCGCAGTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGTCAAGGCGGG CAGATCACGAGGTCAGGAGATCAAGACCATCCTGACCAACATGGTGAAAC CCCGTCTCTACTAAAAAATACAAAAAATTAGCCAGGCGTGATGGCAGGCA CCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTCGAGAC CAGGACTTCAAGGTTACAGTGAGCTGGGATTGCACTCCAGCCTGGGCAAC AGAAGGAGACCCTGCAACTCAACTCAATCCTTGACTGGATTGAAGTAATT AGTCCTGAATTCTCTCTGCCTAAGAGAGGAAAGAGGACCTTTCTATGGTA AGAATATCATTTGCAGTCTCTATGGTTCTTATATATACAATGCTTGGCAT GTAATAAAATTACTGTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAG GACTTTGGGAGGTCAAGGCGGGCAGATCACGAGGTCAGGAGATCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	308	0.0033	844	c.42 others(855): Show c.4268_*4269insAGACCATCCTGACCAACATGGTGAAACCCCGTCT CTACTAAAAAATACAAAAAATTAGCCAGGCGTGATGGCAGGCACCGGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTCGAGACCAGGACT TCAAGGTTACAGTGAGCTGGGATTGCACTCCAGCCTGGGCAACAGAAGGA GACCCTGCAACTCAACTCAATCCTTGACTGGATTGAAGTAATTAGTCCTG AATTCTCTCTGCCTAAGAGAGGAAAGAGGACCTTTCTATGGTAAGAATAT CATTTGCAGTCTCTATGGTTCTTAAATATACAATGCTTGGCATGTAATAA AATTACTGTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGGACTTTG GGAGGTCAAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGA CCAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCAG GCGTGATGGCAGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGGATCACTCGAGACCAGGACTTCAAGGTTACAGTGAGCTGGGATTGCAC TCCAGCCTGGGCAACAGAAGGAGACCCTGCAACTCAACTCAATCCTTGAC TGGATTGAAGTAATTAGTCCTGAATTCTCTCTGCCTAAGAGAGGAAAGAG GACCTTTCTATGGTAAGAATATCATTTGCAGTCTCTATGGTTCTTATATA TACAATGCTTGGCATGTAATAAAATTACTGTGGCTGGGCGCAGTGGCTCA CGCCTGTAATCCCAGGACTTTGGGAGGTCAAGGCGGGCAGATCACGAGGT CAGGAGATCG	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding		4000		chr13	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(837): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGT GAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCA GTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTG ATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGAGTGATGTCACGGGACGGGTGTGAGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	294	0.0034	844	c.153 others(863): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGT CCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGAGACACCACTGCACACCCCTCCCGAGACACCACTG CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGTGACAACACTGCACACCCGTCCCGAGACACCACTCACACCC GTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(837): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAA AACTATATATAGTTACATGTATATAAAACTATATATAGTTATATGTATAT AAAACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTCATATAT GTATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATATAT AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATAGTCATATATGTATATAA AACTATATAGTCATATATGTATATAAAACTATATAGTTATATATGTATAT AAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAA AACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTAT ATACAGTTATGTATGTATGTAAAACTATATAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	844	c.-30 others(855): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTAAATATAGT CATATATGTATATAAAACTATATATAGTTACATGTATATAAAACTATATA TAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATA TAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAAC TATATAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAGTTA TGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(837): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATG TAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	422	0.0024	844	c.-29 others(855): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAA CTATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAA AACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATATAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAATTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAC AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATAT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGT AAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(837): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATG TAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTA TGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02895.hp2 HG03041.hp2 others(1): Show HG02622.hp2 HG02895.hp2 HG03041.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0008 a0003c0003t0001g0001 a0003c0003t0001g0008	4	422	0.0095	844	c.-29 others(855): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAA CTATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAA AACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATATAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAATTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAC AGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATAT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGT AAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(837): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTC CATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTAT GTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAA TTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAA AGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAG AATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTA CCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGAT CATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCAAACTTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01175.hp1 others(8): Show HG00099.hp2 HG00639.hp1 HG01175.hp1 HG01261.hp2 HG02004.hp1 HG02258.hp2 HG02280.hp1 HG02630.hp1 HG03041.hp1 HG04184.hp2 HG04204.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0019 a0001c0001 a0017c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0022 a0001c0001t0034 a0017c0019t0001	a0001c0001t0001g0105 a0001c0001t0001g0204 a0001c0001t0001g0217 others(8): Show a0001c0001t0001g0105 a0001c0001t0001g0204 a0001c0001t0001g0217 a0001c0001t0002g0007 a0001c0001t0004g0184 a0001c0001t0005g0051 a0001c0001t0007g0075 a0001c0001t0008g0163 a0001c0001t0022g0001 a0001c0001t0034g0153 a0017c0019t0001g0143	11	230	0.0478	844	c.213 others(863): Show c.2139+1925_2139+1926insCCCAAGTTTGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCCTT CCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAAGG AAATATATATCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTC CCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTAC AGGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATGG GGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCC GCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACG TAGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCC TGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCA GCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAG GACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(837): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTC CATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTAT GTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAA TTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAA AGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAG AATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTA CCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGAT TATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCAAACTTGGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	230	0.0044	844	c.213 others(863): Show c.2139+1925_2139+1926insCCCAAGTTTGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATAATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCCTT CCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAAGG AAATATATATCTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTC CCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTAC AGGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATGG GGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCC GCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACG TAGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCC TGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCA GCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAG GACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MARCHF1_chr4_163519718_164389019	163640958	T T	TAAAAAAA others(837): Show TAAAAAAAGACTTCATAAAAAACACATGAAGAAATGCTCATCATCACTGG CCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCA GTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGG ATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAG TTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	102	0.0098	844	c.163 others(863): Show c.163-27566_163-27565insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTT TAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGC CATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATC TCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAG TGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCAC CTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTA CTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAA CTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACA TTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTC TTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTT ATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGG CTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACT GACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAG TGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTT TAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTG ATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTT TTTATGAAGTCTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	5/9			chr4	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(837): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGG AGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGA GGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCA GTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGGAGGAGG GAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGG GGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	280	0.0036	844	c.641 others(859): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCA CTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCC CCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCT ACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCT CCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTT TTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTT CACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCC CCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(837): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAGGGGCGGGGGGAAGGGGGAAAGGGGTG GGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAA GGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAG GGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGA TGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAG GGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGAAGAGAGGGAGGGGAGAGGGAGGAGGGAGGGGGAGGG AGGGGGAGGAGGGAGGGAGGGGGGAGGGAGGGAGGGAGGGGGAGGGGGAG GGAGGGAGGGAGGGGAGGGGAGGGGAGGGATGGGGAGGTGGAGGGAGGAG GAGGGGATGGGAGAGGATGGTGAGGTGGAGGAGGGAGGGGGAGGGGGAGG GAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAA GGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	272	0.0037	844	c.250 others(859): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCCTCCTCCACCTCACCATC CTCTCCCATCCCCTCCTCCTCCCTCCACCTCCCCATCCCTCCCCTCCCCT CCCCTCCCTCCCTCCCTCCCCCTCCCCCTCCCTCCCTCCCTCCCCCCTCC CTCCCTCCTCCCCCTCCCTCCCCCTCCCTCCTCCCTCTCCCCTCCCTCTC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCC CCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTCCCCC CTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCC CCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTC CCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(837): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGTGGGCAGG GACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCG ATGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGGATGGG CAGGGACAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACA GTGGGGCGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGG GGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGTTGGGGATGA GCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGG ACAGTGCGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTG TTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp2 NA20300.hp2 HG02717.hp1 HG02717.hp2 NA20300.hp2	a0001 a0015 a0016 a0001 a0015 a0016	a0001c0003 a0015c0034 a0016c0038 a0001c0003 a0015c0034 a0016c0038	a0001c0003t0001 a0015c0034t0014 a0016c0038t0001 a0001c0003t0001 a0015c0034t0014 a0016c0038t0001	a0001c0003t0001g0209 a0015c0034t0014g0087 a0016c0038t0001g0207 a0001c0003t0001g0209 a0015c0034t0014g0087 a0016c0038t0001g0207	3	324	0.0093	844	c.141 others(861): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCGCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATC CCCCGCACTGTCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTC ACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTC CTTGCCCATCGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCAT CCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCC CCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGT CCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGC CCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTC CCTGCCCATCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTG CCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(837): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	378	0.0027	844	c.-14 others(861): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGG CGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739350	C C	CCCCCCCC others(837): Show CCCCCCCCACCTCCCTCCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	378	0.0027	844	c.-14 others(861): Show c.-14-8864_-14-8863insGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACTCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGG CTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGG CGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(837): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGCATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGC ATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATAT ATACATATACATGTATATGCATATGTGTGTATATATACATATACATGTAT ATGCATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATAT ATACATATACATGTATATGCATATGTGTGTATATATACATATACATGTAT ATGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGT ATATATACACATATACATGTATATGCATATGTGTGTATATATACACATAT ACATGTATATGCATATGTGTGTATACATATACATATATATGCATATATGT GTATACATATACATATATATGCATATATGTGTATATATACACATATATAT GTGTGTGTATATATATGTGTGTGTATATATACACATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	456	0.0022	844	c.31 others(855): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGCATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACA TATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATACATGTATATG CATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATA TACATATACATGTATATGCATGTGTGTATATATACATATACATGTATATG CATATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATA TACATATACATGTATATGCATATGTGTGTATATATACACATATACATGTA TATGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTG TATATATACACATATACATGTATATGCATATGTGTGTATACATATACATA TATATGCATATATGTGTATACATATACATATATATGCATATATGTGTATA TATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACA TATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PCBP3_chr21_45638725_45947450	45910132	C C	CGCCACCC others(837): Show CGCCACCCACTGCCCAGATATGGACCCCCCCCCGCCCACTGCCCAGATAC GGACCCCCCGCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCC CAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGG CCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATACAGA CCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGA TACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACAC TTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCC ACCCACTGCCCAGATACGGACCCCCCCCACCACTGCCCAGATACGGACCC CCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATAC GGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCA GATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACT GCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCAC ACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGAC CCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGAT ATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCACCCACTTC CCAGATATGGACCTGGCCACCCACTGCCCAGATACGGACCCCCCG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	292	0.0034	844	c.471 others(859): Show c.471+646_471+647insGCCACCCACTGCCCAGATATGGACCCCCCC CCGCCCACTGCCCAGATACGGACCCCCCGCCACCCACTGCCCAGATACGG ACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCC AGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCAC TGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCC CCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATA CGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTC CCAAATATGGACCTGGCCCACCCACTGCCCAGATACGGACCCCCCCCACC ACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCC CCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGA CCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATA CAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCC CAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACAC ACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTG GCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGG ACCCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAG ATACGGACCCCCCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PLEKHG4B_chr5_87168_194966	101034	T T	TCTATAGG others(837): Show TCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTG GGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATAT AAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCA TATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAAT CCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTT AATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAG GTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGT GAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGT TGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGAC TGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAGA GATTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGG AGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAG GGGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0123 a0004c0006t0123	a0004c0006t0123g0003 a0004c0006t0123g0003	1	210	0.0048	844	c.45+ others(859): Show c.45+8760_45+8761insATAGGGGAGAGATTGTTGTGAGGTTAATCC ATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAA ATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTT GTGAGGTAAATCCATATAAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACT GTTGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGCCTGTAGGGGAGAG ACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGG GGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGT AGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTC TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAA GTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAA AAAGTCTATAGGGGAGAGATTGTTGTGAGGTTAATCCATATAAAGCTCTG GAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGTCTGTAGGGGAGACTGTTGTGAGGTAAATCCATATAAAGC CCTGGGAAAAGCCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS12_chr4_3288021_3444913	3341673	A A	AGGGTGGA others(837): Show AGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGGGTGGAGAGATGAGGG TGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGG GGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATG GGGGTGTGGGCGGAGGGGAGGGTGGAGGGTGGAGAGATGAGGGTGTGGGG AGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGG AGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGG TGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGG TGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGC GGAGGGGAGGGTGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGG GTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGG GGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAG TTGGGGGTGTGGGGGGAGGGGAGGGTGGAGGGATGGGGGTGTGGGGGGAG GGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG02886.hp1 others(2): Show HG01243.hp2 HG02630.hp2 HG02886.hp1 HG03471.hp1 HG03579.hp1	a0005 a0005	a0005c0012 a0005c0054 a0005c0012 a0005c0054	a0005c0012t0001 a0005c0054t0001 a0005c0012t0001 a0005c0054t0001	a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0158 others(2): Show a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0158 a0005c0012t0001g0160 a0005c0054t0001g0154	5	312	0.0160	844	c.188 others(863): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATG GGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGG GTGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGAT GGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGG GTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGT GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGG GTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGG GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGA GTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGGGTGGAGAGATG AGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGT GGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGG AGGGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGG GGAGGGGAGGGTGGAGGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(837): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAACAGGTGCTAGGACACTGTGGGGA CGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGGAGGAGGAAGAGGA GGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAAGACAC TGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGCAGGAGGAGGAG GAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACA GCAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	203	0.0049	844	c.-12 others(863): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTC CTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTC CTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTTCTCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGG CATCTGGGACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACT GCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCC TGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCG GCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTCCTCCTCCTC CTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(837): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACA GGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGGAGGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	203	0.0049	844	c.-12 others(863): Show c.-127+9348_-127+9349insTCCTCCTGTTCCTCCTCCTCCTCCTG TGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTGC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCT CCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTC CTAGCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTC CTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCC TGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCG GCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTCTCCTCCTCCTC CTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(837): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	324	0.0031	844	c.115 others(861): Show c.115-2588_115-2587insATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SH2D7_chr15_78087561_78109362	78101731	G G	GAGAGGCA others(837): Show GAGAGGCAGCTGCTAGATTTGGATGTAAGATGGGGGCTTCCAGGCCCTTC TAAGGGCATTCTCTACAGCAGATCAGGGTTCCCATCCCCTCCGTCTCAGC CTCTGCAGGGGTCTTAGCGCCTCTGGGAGCAGGAGAATGGCCCCTTTGCT CCTACTCCCTCACCTTGTAGCTTTGGGCAAGACAAATTCCAGGACAACCA GTTAAACCTGAATTACAGATAAACAACAAATATTTTTGAGGCCAGGCATG GTGGCTCATGTCTGTAATCCTAGCCCTTTGGGAGGCTGAGGCAGGTGGAT TGCTTGAGCTTGGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCCC ATCTCTATGAAAAAATACAAAAAATTGCCAGGCGTGGTGGCCTGTAGTCT CAGCTACCTGGCGGGCAGAAGCAGGAGGATGGCTTGAACCTGGGAGGTTA AAGTTGCAATGGGTCAAGATTGCACCACTGCACTCCAGCCTGGGAGACAA AGTGAGACCCTGTTTAAAAAAACAAACAAAAAACCAAACCAAAACAAAAC AAAAACCATTTTAAAGTATGTCTTAAATACCACAATTATTCCTTTGTTTA TCCGAAATTTAAATTTAACTGGCATCTATATTCTTGTTTAGCAACCCCAC CCAGGACCTCCATTTCCTCATCTGTAAAATGGGCTGATCCTCTGCTTGTA TCCAGGGGTAGGTGCCCAGAGGATAATGCTAGACACCCTCTCCTGCTCAG AACACAGCCCAGAGAGGGCTCTTGATGAACAGAGCTATTATTCTGAGGAT CTCTGGGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTATTGGTGGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	432	0.0023	844	c.130 others(861): Show c.1305+583_1305+584insCGGGCAGAAGCAGGAGGATGGCTTGAAC CTGGGAGGTTAAAGTTGCAATGGGTCAAGATTGCACCACTGCACTCCAGC CTGGGAGACAAAGTGAGACCCTGTTTAAAAAAACAAACAAAAAACCAAAC CAAAACAAAACAAAAACCATTTTAAAGTATGTCTTAAATACCACAATTAT TCCTTTGTTTATCCGAAATTTAAATTTAACTGGCATCTATATTCTTGTTT AGCAACCCCACCCAGGACCTCCATTTCCTCATCTGTAAAATGGGCTGATC CTCTGCTTGTATCCAGGGGTAGGTGCCCAGAGGATAATGCTAGACACCCT CTCCTGCTCAGAACACAGCCCAGAGAGGGCTCTTGATGAACAGAGCTATT ATTCTGAGGATCTCTGGGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTATT GGTGGCAGAGGCAGCTGCTAGATTTGGATGTAAGATGGGGGCTTCCAGGC CCTTCTAAGGGCATTCTCTACAGCAGATCAGGGTTCCCATCCCCTCCGTC TCAGCCTCTGCAGGGGTCTTAGCGCCTCTGGGAGCAGGAGAATGGCCCCT TTGCTCCTACTCCCTCACCTTGTAGCTTTGGGCAAGACAAATTCCAGGAC AACCAGTTAAACCTGAATTACAGATAAACAACAAATATTTTTGAGGCCAG GCATGGTGGCTCATGTCTGTAATCCTAGCCCTTTGGGAGGCTGAGGCAGG TGGATTGCTTGAGCTTGGGAGTTTGAGACCAGCCTGGGCAACATGGCAAA ATCCCATCTCTATGAAAAAATACAAAAAATTGCCAGGCGTGGTGGCCTGT AGTCTCAGCTACCTGG	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(837): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATATATTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATAATATATAATATATTATATTT TATAATATGTAATATATATTATATTTTATAATATATAATATATTATATTT TATAATATGTAATATATATTATATTTTATAATATATAATATATATTATAT ATTATAATATATAATATATATTACATATTATAATATATAATATATATTAC ATATTATAATATATAATATATATTATATATTATAATATATAATATATATT ACATATTATAATATATAATATATTATATTTTATAATATATATAAAATATA ATATATTATATTTTATAAAATATAATATATTATATTTTATAATATATAAT ATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATAT TATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTT TATAATATATAATATATTATATTTTATATTATATAAGATATTATATTTTA TAATATATAATATATTATATTTTATAATATATAATATATTATATTTTATA ATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAAT ATATAATATATTATATTTTATAATATATAATATATTATATTTTATATATA TTATAAAATATAATATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0098 a0001c0001t0013g0098	1	340	0.0029	844	c.17 others(863): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATA TAATATATTATATATTATAAAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT TTTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATAT ATTATATATTATAATATGTAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATGTAATATATATTATATATTATAATATGTAAT ATATATTATATATTATAATATATAATATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATATTACATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATATA TTATAATATATAATATATATTATATATTATAATATATAATATATATTATA TATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(837): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCCTTTCTTCCCTTCTCTCTTCCTTCCCTTC TCCCTTCCTTCTTCCCTCCTTTCCTTCCTTCCTTTCTCTCCCCTCCCTCC CTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0063 a0001c0001t0007g0063	1	168	0.0060	844	c.548 others(863): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTTCCTCCCCTTTCTTCCCTTCTCTCTTCC TTCCCTTCTCCCTTCCTTCTTCCCTCCTTTCCTTCCTTCCTTTCTCTCCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(837): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAG GTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAG GGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAG GAGGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGA GGGGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGG AGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGA GGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGG GGGGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGA GAGAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGT GGGAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGA GAGAGAAGGAGGTGGGGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGT GGGAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGG GAGAGAAGGAGGTGGGAGGGGGGAGAGAAGGGGGTGAGGGGGAGAGAAGG AGGTGGGAGGTGGGGAGAGAAGGAGGTGGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0011	1	112	0.0089	844	c.638 others(859): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGG GGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGA GGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGG GGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAG AGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGG TGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGG GGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGA GAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGG GAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGA GAGAAGGAGGTGGGGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGTGG GAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGGGA GAGAAGGAGGTGGGAGGGGGGAGAGAAGGGGGTGAGGGGGAGAGAAGGAG GTGGGAGGTGGGGAGAGAAGGAGGTGGGAGGGTGGGAGAGGGGGAGAGAA GGAGGTGGGAGGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1629082	C C	CGGGAAGG others(837): Show CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGATGGGGTGGGAAGGGGACAGCAGAGCTC ACGGGTGGGGCGGGAAGGGGACAGAAGAGCTCATGGGGATGGGGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	352	0.0028	844	c.299 others(861): Show c.299-1657_299-1656insACCCCATCCCCATGAGCTCTTCTGTCCC CTTCCCGCCCCACCCGTGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAT CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCT CTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273643	C C	CAACCGCC others(837): Show CAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAG TCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCC CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAG ACCCCACGACCACCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAG ACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCC CACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	392	0.0026	844	c.228 others(863): Show c.2287-1364_2287-1363insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTTGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTT GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATG GTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(837): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	167	0.0060	844	c.53 others(855): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTC CCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCC TTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTC CCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTC CCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
USP12_chr13_27061156_27176811	27063935	A A	AGGAGAGG others(837): Show AGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGAAGGA AGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAGTAAA GGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGGGAGG GGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGG AGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGGGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGG GAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGA GGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	167	0.0060	844	c.53 others(855): Show c.5347_*5348insCCCTCCCTTCCTCCCTCCCTTCCCTCCCCTCCCT CCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCC TCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTC CCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTCCCTCCCTCCCTCTC TTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTC CCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCC TTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTC CCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTC CCTCCTCTCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2220		chr13	TogoVar
YBEY_chr21_46281342_46302751	46294192	A A	AACTCTAG others(837): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGTCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCT AGATTGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	404	0.0025	844	c.340 others(861): Show c.340-1915_340-1914insGGACAGCCACACAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG TCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCT GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(837): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	246	0.0041	844	c.-10 others(861): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCC TTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFPM1_chr16_88448280_88542031	88460942	T T	TGACCGAG others(837): Show TGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGG GAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGA GGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCT GGTGAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCCAGGGGCAGAAGGT CTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGG CGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGG GGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGG TGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGA GGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGG GGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGG TGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGG CGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGATGAC CGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGG CCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGG AGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTG AGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCG GGAGGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0008 a0002c0002t0019g0008	1	318	0.0031	844	c.40+ others(859): Show c.40+7336_40+7337insCGGGGCGGGAGGCCTGGTGATGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGT GAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCCAGGGGCAGAAGGTCTG GTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGG GAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGT GGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGA GGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGC CTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGA GGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGA TGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGG GAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGATGACCGA GGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCT GGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGG GGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGG ACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGA GGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGG GGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGG TGAGGACCGAGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCT others(838): Show TCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	295	0.0034	845	c.37 others(856): Show c.3715_*3716insGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGAGCAGGGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACG GGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGG GGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGG ACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGG GACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGAC GGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGGGACACGGGGG ACGGAGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(838): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAAATACATATATATATATATATTTAAAATTCCTTGTAAAAAG TGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCA AAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01993.hp1 NA18960.hp1 HG00642.hp1 HG01993.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0128 a0001c0001t0001g0197 a0001c0001t0001g0198	3	336	0.0089	845	c.94+ others(860): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATGTATTTTTTTTTTTTTTTTTAAATATATATTCTTTTTTTTTAAACGGA GTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACT GCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGC AGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTTTTTTTT TTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGT CTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTG CTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATATTTTTA AAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTGACTTC TGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCCACATG GGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTCTTTTC TTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAGAGACG GGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(838): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCC CACCCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	391	0.0026	845	c.36 others(856): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCC CGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(838): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGGTGAGTAGACGGTCGGCG TGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0021 a0001c0032t0021	a0001c0032t0021g0265 a0001c0032t0021g0265	1	338	0.0030	845	c.300 others(862): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGT GTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215628	G G	GCACTGCA others(838): Show GCACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCC CCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACA CTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCC CCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0094 a0003c0004t0003g0094	1	252	0.0040	845	c.-28 others(856): Show c.-2853_-2852insTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGC AGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGA AGGAGGGGGAGGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGG GTGCTGCAGTG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2787		chr17	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(838): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG TTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	336	0.0030	845	c.248 others(862): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAA CTTCTTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGA ACATTCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGA TGAAGAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACAC CACAAAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATG ACAGATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAA AAGATTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGT GAAATACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTG AGAATGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCT AGAGTAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGA ACCTCCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTC AAATAATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAAT ATTCATGGGCAATACATCCATACTACATATATATATATATATATATATAT ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCC CATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(838): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTC TTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCT CCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCC ACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTC TTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18950.hp2 NA20752.hp1 HG02027.hp2 NA18950.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0009 a0001c0002t0003 a0001c0002t0009	a0001c0002t0003g0231 a0001c0002t0003g0233 a0001c0002t0009g0246 a0001c0002t0003g0231 a0001c0002t0003g0233 a0001c0002t0009g0246	3	270	0.0111	845	c.162 others(866): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTT CCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCC CTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTT CCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCC TCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(838): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCT CTTCCTCCCCCTCTCCCTCTTCCTCCCCTCCTCCTCCCCCTCTTCCTCCT CCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCC ACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTC TTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0244 a0001c0002t0009g0244	1	270	0.0037	845	c.162 others(866): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCT TCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCC CTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTT CCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCC TCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 7053 hits)