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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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CCDC127_chr5_191868_223153	210605	TGAGACAG others(2855): Show TGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGT GAGCACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACAGCAC CACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGA GATGCTCGACATTGCACACTGCAGCCACGACGAGACAGCACCACACACCC ATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACA TCGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGG GCAGACGGGACAGCACTGTGAGCACGCTGATGCTCGACATCGCACACTGC AGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGAC AGCAGTGTGAGCACGCTGATGCTCGACATCACACACTGCAGCCACGATGA GACAGCACCACACACCCATCACGATGGGGCAGACGGGACAGCAGTGTGAG CACGCTGATGCTCGACATCGAATACTGCAGCCACGATGAGACAGCACCAC ACACCCATCACGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGC TCGACATCGCACACTGCAGCCATGACGAGACAGCACCACACACCCATCAT GATGGGGCAGACTGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCA CACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGA CGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCA CAATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAA TGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGACGAGAC AGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCAC ACTGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACACA CCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCG ACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGAT GGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACAC TGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGG GACAGCAATGTGAGCACGCTGAGATGCTCGACATCGCACACTGCAGCCAC GACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGT GTGAGCACACTGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACT GATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCC ATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGATGCTCGACA TCGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGG GCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCACACACTGC AGCCACGATGAGACAGCACCACACACCCATCACGATGGGGCAGACGGGAC AGCAGTGTGAGCACGCTGATGCTCGACATCGAATACTGCAGCCACGATGA GACAGCACCACACACCCATCACGATGGGGCAGACGGGACAGCAATGTGAG CACGCTGATGCTCGACATCGCACACTGCAGCCATGACGAGACAGCACCAC ACACCCATCATGATGGGGCAGACTGGACAGCAATGTGAGCACGCTGAGAT GCTCGACATTGCACACTGCAGCCACGATGAGACAGCACCACACACCCATC AGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATGCTCGACAT TGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGG CAGACGGGACAGCAGTGTGAGCACGCTGATGCTTGACATCGCACACTGCA GCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACA GCAGTGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAG ACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGC ATGCTGAGATGCTCGACATTGCACACTGCAGCCACGATGAGACAGCACCA CACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGA TGCTCGACATTGCACACTGCAGCCACGACGAGACAGCACCACACACCCAT CAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTTGACATC GCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGC AGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACACTGCAG CCACGATGAGACAGCACCACACACCCATCACGATGGGGCAGACGGGACAG CAGTGTGAGCACACTGATGCTCGACATCGAATACTGCAGCCACGACGAGA CAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCA CACTGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACAC ACCCATCACGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTC GACATCGCACACTGCAGCCATGACGAGACAGCACCACACACCCATCATGA TGGGGCAGACTGGACAGCAGTGTGAGCACACTGATGCTTGACATCGCACA CTGCAGCCACGAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0258 a0001c0002t0014g0258	1	406	0.0025	-2862	c.121 others(17): Show c.121+3262_122-4648del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129810795	ACAATGTC others(2854): Show ACAATGTCCAAAAAATCGAGTTGAGGAAAATCAAAATTATTCCTAACTAA AAATTAAGCCCCAAGCAAAATACAAGACATAGGTATTTGTCAAGAGGAAA TAAATTCATTGATATTGGGCACTGATGGTATTGCGTGTCTAGAACATTCA AAGTAACAGGAAAGTTATGGAAAATAAGATCATTCAACAAGGGCGTCAAC ACAACTAAAATAAAAGCAAGAACGTGTTTATCTAAAACCATAACCAGTTA TAAATGTAAGGACAGAAAGATTCCATTTTAATATTCAATAAAAATACAAT ATCAATGAACGGATTTAACAAGAAATTTGTCATATCTTTTTAAGACAATG TTTAGAACTCACCGAAGAACATAAAATGTTTGGGGAAAATGACCTGGATT TATGTAAAAATGTACAATATTATAAAGATATCAATTCTCTCCTAAGGCAA TCTGTATGCCCAACACTTAGTGAGTGTCAGGGATGGGGTGGGGTGGGCTC GGTCCTGCCTCCCTCCTTGTTCTACCTCCTTGGAGGCTCACACCCAGCAG ACTTCATCCTGCTTCTGCCTCCAGCCCCTCCCTCCATCCCTCACTACCCA ATGCTTGAAGTCCTGGCTTCCAGTGATCCGGATACTCCGGGACCACATTC TCAGGGACCTCAAGCAAGAGGACTCTCCAACTCATGGCTCTCAGTTCCTT CACCCCATCTTTATCATTTGGGGATGCAGAATTGGGACTCCAAGAAGGCT CCTGACCAAATCCCAGGGCCTGTGCGTACAAAGATGCCACCTCTGTGAGT GTGCGACCTTACCTGGCAAGATGGACTTCGCAAATATGAAGAAAGTTACC GAAGAGCTGAACTTAAAATAGGGCGATCCTCCAGGTTTATCCTGTGGACC CGATGCTGTCACATGAGCCAGGAGAAGACGCCAGACAGATACGGGGAGCA GGGCTCAGCATGCTGGATTTGAAGATGGAGGGGACCCCAGGAGAAGGAAT GTGGGTGACTTTTAGGAGCAGAAAGCCACCCCAGCTGATGGCCAGCCAGA GCACTGGGACCTCAGTCCCCCAACTCCAAGACACGGGATTCTTCCGCAGC TTCAGTGAGCCTGGAAGCCAGCTCTCCTCCAGAGCCCACAGCTCAGAGCC CACCCACCTGACACATATATTTCAACCTCGTGAGATGCTGAGCAGAGACC CAGCTGAGCCCACCTGGACGTCTGCCCTACAGAACTGGAGTTAATAAGCA CCAGCTGTTCCAAGCTGCTACCTTGGTGGTGATTTGTTACACAACAATAG AAAACTAAGACACCTTCACTTTCACAGTTACATTCTGAGAATGCACCATT ACACAATCCTACAACCCAAATGCGCACATTCCCATAACGTGTCATCACCA TCAGCTCCAGTCCCAACCTTTCTCCCTCTTCTATTTATCTCTTTCTCTTC CCCCTTAACCGACCTCTCTCTGTGTGTCTCTGACAGTGGTGTTTTCACCA AAGAAGACTCTGCTATCACTGACACCACGTGTAACATCATGTTTGAAACC GTTCATTTGCTTAAATTTGCCAGGATGGGTTATCTCGTGGACATCTAAAA ACCCAACACAATCATCTTCTAGTGTTATGCAACCTTTAAAAACTCATTTT CCCTTTAATACTCTGCCATTGTTCCATCATCTTTGGCAAACTTCTCTAAG AATCGTCTCCAGAAGCTGTCTCCATTTCCTCGTTAGTCTTCAAAACTTTC CAATCTGGCTCTGTCTCCACCACATCATTGAAAGTATTCACCTGTGTCTC CCAGTCAAACGGACAGTGTCTATCTTCTCTTGACCGCTCAACAGCATTTG ACACCATTGCTTCTTTTCGTTGTATTGATACGTGCCTCTCTCTTGAAATC TATAATGCCACAAATTCTTGGCTTTTCTTTTACTCCACAGATCACTGCTT CCCAATCTCTTTTCCTGGGCCGTTTGTGTGATCCAACCAAGATGTGGCCC CCCTTAACCTCTCCATACTGTCTCCCTAAGAGTTCTTCCATTCTTTCACT CTTAAAACCATCTACAAGTTGTCACCTCTCAAATGTGTGTCCCTAAGCCT GACAATTCTGCTAAACCCCAGATTTGTAAATTCAGTGCCTAGTAGACATA CCCATTTGCATGTCACAGAAGTTTCTGAAATGACCACAACAAATCTTATG CATTTATCCCGACTCCTGCGCCTTCCACTTCTTTCCGTCTCGGCGCAGAA CACCATCACAGCAACGTCTGCTCAAAGCAGAAATAGTTGAGTCATTCTTG ATTTCCTCCTTTCTCCCACTTTTTCATTCAATCCATCTGTAAATCTTATT AATTTCACCTGCTAAATATCTCTGGAATCTGTCCAACTGTGTCTAAATCC ACAGTGGTCACTCTAGTCCACGCTGTCCTCATCTTGTTGGTGGACGTTGC TAAAATGCGTCACTGGTTTCCTCACATACTCCCGACCTCTGCCAAACACA CACTTCACAACTGTCAGTGAGAACTTGAAACAAACATAAATAAGACCATC CAATTTCCCTGCTTAACACCCTTCATTGGCTTCCCATTTTCCTGTGAATA AAATCTAATGTATTCCTGCAAATAAAATAGAAGGCAGGCAGTAATGGATG CCAGTGAGGATGTGAAGAAAGATACACTGTTGGTGGGAACGTAAAGTAGT CAGTCCAGCCACTCTGGTAAATCTGCCCTCCCACATTCACTGCAGCCAAC TCACAATAGGCGAAATATGGAATCAACTTAAGTGCCCAGTGAAGGATGGA CGGATACAGAAAATGTGATATATATATATATATATATTTTCAGGACTATT TCAGACATTGGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0025	1	94	0.0106	-2861	c.79+ others(17): Show c.79+89605_79+92465del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
DYNLT2B_chr3_196286219_196323240	196320075	ACCACTGC others(2851): Show ACCACTGCACTCCAGCATGAGACTCTGTATCAAAAAAAAAAAAAAAAAAA AAAATTCTGCGTGAGTTGTGTGGAGGTGTCAGTACCTTTCCCCAGCAAGA GAAGCTTCTCCATATCAGGCATATCCTAGCCATGACCCTGAAACTAACCA GCCAAGAGGGAAATGTGAGACAAGCCCAGGCAAGCTTCCTGGATGTTGTA TGCAGGAATAGGATGTGCTCTCTGGACTTGGAGACTTCCTGCCTGCTCAA GAGGCTGTGCCTCCTTGTGTCTCCCACAGGCCTCTGTGTCCACCTTCCCC ACCCTGGCAGGCCTGCTAGGCCAGCAGCCCTGGAGAGGAAAGGGTGAGGT GGTGTTTGAAGGGACCTGCCTCCTACGAGCTCTGCTGGTTGGACTGTCGG ATGACAGAACCGTGCCTCTGAGCCTGGGAGAGGGAGGCACCCCTGTGTTC TGGAAGCCCCCAGTGCTTCAGCAACTCCTCACTGAGGCAGAATAGTGGAG GAATCAAGCTGGGATCCAGGGGACTGAGGAGGGGATAGAGCAGCACCTGG GCCCCACATTCCCTTCCAACAGAGCCTGGGGTGCTGTGTTTCCGGGAGGG TTTTTTTTGTTTTTTGTTTTCCCGAGACAGAATCTCGCTCTGACCCCCAG CCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCTCGG GTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGT GCACACCACCACACCTGGCTAATTTTTGTATTTTTTATAGAGACGGGGTT TCACCATGTTGGCTAGGCTGGTCGTGAACTTCTGACCTCATGATCTGCCT GCCTCAGACTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCTCTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGAGTCTCTGTCC CCCAGGCTGGAGTTCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGTCT CCTGGTTTCAAGCAATTCTCCTGCTTCAGCCTCTGAATAGCTGGGATTAC CGACATGCACCACCACGCCCATATAATTTTTGTATTTTTTGTAGAGCTGA AGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCTGGTGAT CCACCCACCGTGGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCG TGCCCGGCCAGAGCCTGGGGTTCTCAAACTCGTTTCTGGGGACCGCCCAC CACTTTTCTTGCCAGTGCCCATCTTCCAGGTTCCTCCCAGGCTGCTTCTG CCTGCCTTGTCCTCTTCCTGCCTGTCACACCACACTCTCCCACCAGCATC TTCCTCATTCCGCTCTGACTCTCCTCACCACCCAGCCCGACCTGACTGAA AACCCCGCAGTGGGAGAGCAGGAGGCCCCTGCTTCTAGGTGCCGTGTGAG AAGCAGCTGTGAGGTCGGGTTGGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGTGGGCGGGTCACAAGGTCAGGAGTTCAAGACCAGCC TGGCCAATATGGTGAAAACCCATCTCTACTAAAAGTACAAAAAAAATAGC CAGGTGTGGTGGCGGGTGCCTGTAATCCCAGCCACTCAGGAGGCTGAAGC AGGAGAATCGCTTGAACTTGGGAGGCAGAGGGTGCAGTGAGCCGAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATAAAAAAGAA AAAGAGATTTAATTGGCTCACAGTTCTGCAGGGGTTACAGGAAGCATAGC ACCCACATCACTCAGCTTCTGGGGAGGCCTCAGAGAGCTTTTACTCATGG CAGCAGGTGAAGAGGGAGCAGGCGAGTCACATAGTGAGAGCAGGAGCAGG CGAGAGAGAGGCCAGAGGTGCCACACGCTTCTAAATGACCAGATCTCGCG GGAACCCACTATCACAAAGACAGCTCTGAGCCGTGAGGGATCCGCCTCAT GATCCACACACCTTCTGCCAGGCCCCACCTCTAGCACTGGGGATCACAAT TCAACATGAGATTTGGGTGAGGACAGATATCCAAACTGTGTGGACAGAGG TGATGCTCCTCTACTTGTTGAACTCTTGAACACTAGTGAAGAGAATGCTG GTGTATTAGTCTGCCAGGCTGCTGTTGCAGAATACCATGAACTGGGCACT TAAGCAACTGAAATAGATTTTCTCACAGTGCTGGAGGCTAGAAGTCCAAG ATCCAGGTGCCAGCAGGTTTGGTATCTCCTGAGGCCTCGCCCCTGCGCTT GCAGACAGCCGCCTTCTCACTGGGTCCTTACAGGGCCTTTTTCTTTGAGC CAGTGTAGAGAGCTCTGTTCTTTCTTCCTCTTTTTATAAGCACACCAGTC CTATTTAATTAGGGTCCCACCCTATGGCCTCATTTAATCATTTGTTGTTG TGTTTTTTTTTTTTGAGACGAGGTCTCACTGTGTTGCCCAGGTTAGTCTC AAACCCCTGGTCACAAGTGATCTTCCCACATTGGCCTCCCAAAGTGCTCA GATTACAGGTGTGAGCCATTGCGCCCAGTCTCATTTAACCTTAATTACTA ATTTAAAGGTGCCATCATGGCCAGGCGCGGTGGCTCACACCTGTAATCCC AGCACTTTTGGAGGCCAAGGTGGGCGGATCACTTGCAGCCAGGAGTTCGA GACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAA AATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCC GAGATCACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	330	0.0030	-2858	c.-47 others(11): Show c.-4781_-1924del		DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding					1836		chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196320075	ACCACTGC others(2851): Show ACCACTGCACTCCAGCATGAGACTCTGTATCAAAAAAAAAAAAAAAAAAA AAAATTCTGCGTGAGTTGTGTGGAGGTGTCAGTACCTTTCCCCAGCAAGA GAAGCTTCTCCATATCAGGCATATCCTAGCCATGACCCTGAAACTAACCA GCCAAGAGGGAAATGTGAGACAAGCCCAGGCAAGCTTCCTGGATGTTGTA TGCAGGAATAGGATGTGCTCTCTGGACTTGGAGACTTCCTGCCTGCTCAA GAGGCTGTGCCTCCTTGTGTCTCCCACAGGCCTCTGTGTCCACCTTCCCC ACCCTGGCAGGCCTGCTAGGCCAGCAGCCCTGGAGAGGAAAGGGTGAGGT GGTGTTTGAAGGGACCTGCCTCCTACGAGCTCTGCTGGTTGGACTGTCGG ATGACAGAACCGTGCCTCTGAGCCTGGGAGAGGGAGGCACCCCTGTGTTC TGGAAGCCCCCAGTGCTTCAGCAACTCCTCACTGAGGCAGAATAGTGGAG GAATCAAGCTGGGATCCAGGGGACTGAGGAGGGGATAGAGCAGCACCTGG GCCCCACATTCCCTTCCAACAGAGCCTGGGGTGCTGTGTTTCCGGGAGGG TTTTTTTTGTTTTTTGTTTTCCCGAGACAGAATCTCGCTCTGACCCCCAG CCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCTCGG GTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGT GCACACCACCACACCTGGCTAATTTTTGTATTTTTTATAGAGACGGGGTT TCACCATGTTGGCTAGGCTGGTCGTGAACTTCTGACCTCATGATCTGCCT GCCTCAGACTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCTCTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAGAGTCTCTGTCC CCCAGGCTGGAGTTCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGTCT CCTGGTTTCAAGCAATTCTCCTGCTTCAGCCTCTGAATAGCTGGGATTAC CGACATGCACCACCACGCCCATATAATTTTTGTATTTTTTGTAGAGCTGA AGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCTGGTGAT CCACCCACCGTGGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCG TGCCCGGCCAGAGCCTGGGGTTCTCAAACTCGTTTCTGGGGACCGCCCAC CACTTTTCTTGCCAGTGCCCATCTTCCAGGTTCCTCCCAGGCTGCTTCTG CCTGCCTTGTCCTCTTCCTGCCTGTCACACCACACTCTCCCACCAGCATC TTCCTCATTCCGCTCTGACTCTCCTCACCACCCAGCCCGACCTGACTGAA AACCCCGCAGTGGGAGAGCAGGAGGCCCCTGCTTCTAGGTGCCGTGTGAG AAGCAGCTGTGAGGTCGGGTTGGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGTGGGCGGGTCACAAGGTCAGGAGTTCAAGACCAGCC TGGCCAATATGGTGAAAACCCATCTCTACTAAAAGTACAAAAAAAATAGC CAGGTGTGGTGGCGGGTGCCTGTAATCCCAGCCACTCAGGAGGCTGAAGC AGGAGAATCGCTTGAACTTGGGAGGCAGAGGGTGCAGTGAGCCGAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATAAAAAAGAA AAAGAGATTTAATTGGCTCACAGTTCTGCAGGGGTTACAGGAAGCATAGC ACCCACATCACTCAGCTTCTGGGGAGGCCTCAGAGAGCTTTTACTCATGG CAGCAGGTGAAGAGGGAGCAGGCGAGTCACATAGTGAGAGCAGGAGCAGG CGAGAGAGAGGCCAGAGGTGCCACACGCTTCTAAATGACCAGATCTCGCG GGAACCCACTATCACAAAGACAGCTCTGAGCCGTGAGGGATCCGCCTCAT GATCCACACACCTTCTGCCAGGCCCCACCTCTAGCACTGGGGATCACAAT TCAACATGAGATTTGGGTGAGGACAGATATCCAAACTGTGTGGACAGAGG TGATGCTCCTCTACTTGTTGAACTCTTGAACACTAGTGAAGAGAATGCTG GTGTATTAGTCTGCCAGGCTGCTGTTGCAGAATACCATGAACTGGGCACT TAAGCAACTGAAATAGATTTTCTCACAGTGCTGGAGGCTAGAAGTCCAAG ATCCAGGTGCCAGCAGGTTTGGTATCTCCTGAGGCCTCGCCCCTGCGCTT GCAGACAGCCGCCTTCTCACTGGGTCCTTACAGGGCCTTTTTCTTTGAGC CAGTGTAGAGAGCTCTGTTCTTTCTTCCTCTTTTTATAAGCACACCAGTC CTATTTAATTAGGGTCCCACCCTATGGCCTCATTTAATCATTTGTTGTTG TGTTTTTTTTTTTTGAGACGAGGTCTCACTGTGTTGCCCAGGTTAGTCTC AAACCCCTGGTCACAAGTGATCTTCCCACATTGGCCTCCCAAAGTGCTCA GATTACAGGTGTGAGCCATTGCGCCCAGTCTCATTTAACCTTAATTACTA ATTTAAAGGTGCCATCATGGCCAGGCGCGGTGGCTCACACCTGTAATCCC AGCACTTTTGGAGGCCAAGGTGGGCGGATCACTTGCAGCCAGGAGTTCGA GACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAA AATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCC GAGATCACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0129 a0002c0004t0001g0129	1	370	0.0027	-2858	c.88 others(10): Show c.884_*3741del		TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding					3471		chr3	TogoVar
PRR33_chr11_1883078_1896895	1894042	TGGCTGGA others(2846): Show TGGCTGGAGTGTGGGAGTGTGTGTGTGTGTGTGTGTGATAGGGCCTCACT CTGTTTCCCGGGCTGGGAGTGTGTGTGTGTTTGTGTGTATGTGTGTGTGT GACAAGTTCTCTGTTTCCCAGGCTGGAATGTGTGTGTGTGTGTGTCAGAG CCTCACTCTGTTTCCCAGGCTGGGAGTGTGGGAGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTCAGAGCCTCACTCTGTTTCCCAGGCTGGGAGTGCAGT GGCACAATGAGAGCTCCTTGCAGCCTCAACCTCCTGGGCTCAACGGATCC TCCTGCTTCAGCCTCCCAAGTAGCTGGGACCGCAGGTGCCCACCACCACA CCTGGCTAAGTTTTTGATTTTTTTTGTAGAGACGAGGTCTTGCTATGTTG CCCAGGCTGGCTTCAAACTCTTGGGCTCAAGCGACCCCCCCTGCCTCCAC CTCCCAGAGTGCTGGGATTACAGGCATGAGCCCTGCACCCAAGGGTTTGT GCTTTTTTACAGTGTTACATAAATGGCATCCTGCAGCACGCACGCACTCC TTGTCTGACTTCTGTCACGTAGCATAACTATTCTGAGATCCATGCTTGCT GCTGTGTCTGTTGTAAACACTCATTTTTATTGCCACAGCATGGGTACACC CCAACCCGCTCATCTGTTCGTCTCTTGGTGGACATCAGGGTGGTTTCCAG TTTTGAATGATGGAAAGTAATGTGGCCATTTACATTCACACACAGGTTTT CAGAAGGACATACATTTCCTTTACTCTTGGGGAGAGGCCTAGAAATAAAA CGACTAGATGCCGTGGGAGGTGTGTGTGAAACTTGTTCAGAAACGGCCTA GCTCTCATTTCTTGTTGCAGTTGGAATGGTTCATCTCGCTGACTTTGGCC CTTCCTAGACGTGGAGGGTGCGGTCTGTGATTTTGGCTTGCGTGTCTCCC GGCACCAGGGGTGCCGTGCAGCTTTGCACGTGCTACTTCACCACTGATAC ATCTTGCTGGGGGAAGCATCTGTTCAGATCTTTTGCCCGTTGCTGTAAAA TTGGGTTATTTGTTTTCCTATTGTTGAGTTTGAGAGTTCTTTCTTTCTTT TTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTG GCGCCATCTTGGCCCACTGCAACCTCCGTCTCCTGGGTTCAAGCGATTCT CCTGCCTCAGCCTCCCAGGTAGCTGGAACTACAGGCATTTGCCACCACGC CGGGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGTTC AGGCTGGTCTCGAATTCCTGACCTCAAGTGATCCGCCTGCCTTAGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGAGAGTTCTTTGTATAT ATTCTGAATCAATCCTTGATGAAATAGATTTGCAAAGATTTTTCTCCTGG TTGGTGGCCTTGTCCTCTCACCGTTAACCATCTGAAGAGCAAATTTTAAA CATTTTTGATGAATTTCAGTTTGTCAATTTGTTCTTTTAGGAATTGTGCT TTTGGTATCATGTCTGAGAAATCTTTGCCTTATCCAGAGCCATAAAGATT TTCTCCTGTGTTTTTATGGCTCCAGCTTTACATTTAGACCCACGATCCTT TTTGAGTTAATGTTTGTGTATAGTGTGAGGTACGAATGCAAATTATTCTT CTTTTTCTTTTTGCATATGGAGATCCAGTTGTTCCAGAATATGAAATTGC TGCAGCATGGTTTCTTGAAGAAGCTACAGTTGTGCACCGAGTCGCCTTTG CACCTTTGTCAAAAGTCTGAACTGTGCATGGTGGTGGGTGCCTGCGGTCC CAGCTACTTGGGCGGCTGAGGTGGGAGGATCCCTAGAGCCTGGGAATTTG AGGCTGCAGCGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCAACAG AGTGAGACCCTGCCTGAAAAAAAGTCATCAGTCTGTGTGTGTAAGCTGAT TTCTGGACCGTTTTCTTTTGGATCTACTTGAATATTTTTACACCAGTATC ACTCAAGTTTTGCTTACACTGGTCTTATATGAATTCTTAGAATGTTAGCT CTTCAATTGTGTTCTTTTTCCGGATTGTTTTAGCTCTTCTCCTCCTCTGC TTTTCCATATGTGTTTTAGAATGGACCTGTGAATTTCTATAAATGCAGGG AGAGTTGACATCTTAACAGTATTGAACTTACTAATCCACGAACCTTGGAT GTCCCTATTTATTCAGGTCTTCTTCCACTTCTTCCAAGGATTTTTTACTC TTTCAATTTGGAGGTCTTTCACATCTTTTGTCAGATTGACCTCTAAGTAT TGTCTATTTTTATACAGTTAGGAAGTGGTATTTTTAATGTCAATATCTGA TAGTTGATTACCATTTTATAGAAACACAATGGACTTTGTATATCAGTCTT GTTATTCCACAACCTTGTTAATCTCACTGAGTAGTTCTTGCAGGTTTTTC TTTTGTTGTTGATTCCATCGGGTTAGATGGTCACGTTATCTGTAGATAAG ATTGTTTTCTTTTTCCTTTCTCGTCTGTATGGCTTTTATTTCTTTTGGGG GCCTAATTGCACGAGCAGGAACCTCCAGGTCAATGTTGGACGGAGGTGAT GAGGGCGGACATCCCAGCCTCCTTTCTGTTCTTAGTGAGAAACTGTTCAG TCTTCCGCCATCGGTTGTGGGGTTTTCATAGATATCCTGTATTAGGTTAG GGAAGTTCCCTCTATTCCTAATTTACTGAGTGATGTTTTTTAAACAAATC AGGAACCGACGTTGGATTTTTCAAATGCTTTTTCTGTACTGTTAAAAGAA AAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	308	0.0033	-2853	c.-63 others(11): Show c.-6311_-3459del		PRR33	ENSG00000283787.2	transcript	ENST00000640310.2	protein_coding					2148		chr11	TogoVar
CREBRF_chr5_173051352_173144284	173068983	AATTGCTT others(2841): Show AATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCA CTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCGTCTCAAAAAACAAAA AAAAAGAAAAGGATTCTGAGTTGAGTTTGGTTTTATACCTTAATAGCAGC AACATCCCAGGAGTATCACATACCAAGGAATAGATCTGAGAATAAAAATA GCCACCATTTATTGAGTGTCTGTTTTGTGCTAGGGCTAGATACTTTATAT GTTATTTTATTGTGAATCACAATATCCCCACAAAATAATGGGGAATTCTT GCATTTATACATAAAGTAAGGCAGATGAGAGTCTGGAATGAAATTCTTTT TTTTAAATATATTTCTTTTTTTTTTGAGACAGAGTCTCACTCAGTTACCC AGGCTGGAGTGCAGTGCCGCAATCTCTACCTCCCGGGTTCAAGCAATTCC CCCATCTCAGCCTCCTGAATACCTGGGATTACATGTGCGCCACCACACCC AGCTAATTTTTGTATTGTTAGTAGAGATGGGGTTTCACCATGTTGGCCAG GCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCAGCTTGGCCTCCCA AAGTGCAGGGATTACAGGCGTGAGCCACCATGCCTGGCCATGAAATTCAA AATATTCACTCACAATGCATAACCTTTTACCTAGAGTTTGTTCCTCATAA AGCAAGCTTTTTAGGAATGTTAGAGCCAAAGTGGCACCGAGCTTTTCTCA GTGTTAAAAGAGATGACTGCAAAACCATGTTCAAATAACCTCTGTACTGG CTATTATGTAGTTTATGCTGGTGGTATAGCCTGCTTCACAGTAGGAAGGA ATTTGAATATATCTCTAGTATATTTCATGCTGCTTTTGAAAAGGTGCCAA ATCTGAGAAAGGAGGAAGGAAACAATTTTTTTTTTTTTTGAGACGGAATC TCTCTTGTAGTCTAGGCTGGAATGCAGTGGCGTGATCTCGGCTTACTGTA ATCCCGAGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGCAGCTGGGAC TACAGGTGTGTGCCACCACGCCTAACTAATTTTTGTCTTTTCAGTAGAGA TGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAAGTGG TCTGTCTACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCAGTGAACCAC TGTACCTTGCCCCTACAGTAAATTTTGAAGAAGAGTTCAAATCCTTGCTA ACAACAGCATCAAAGTTGTTACAGTGTGTGAAGAATGTGTGGTGTCACTG GAATCCTGCTGTGTGCTCCAGTGCATTCTCACTTGCACCACTGCCTGTTT TTATGCCGCTGCCATTAATTGTACTGTTCTCTTTTTAACATTTTATAGAT TTCTGCAGAACAGCTTAGAAAACAAAGTGATTCTTTAAAACTAAAATCTT TAACATCCTGCATAAAATATTTTGTTTTACTATGGTGAGTTTATCTTCCT GCTTTGTAGTTTAAAATATTAAAATAAAATAATGACGAGGGAGAGAACAA TATAACATGCATCGGTCCAGTGCCTGAATTCAGTTGATTTAAATTAAATT TAATTCTACTTCTTCCTCTGTCCTCTCTTCCCTAGATAATAATTACATCA GGTCTTTAAAATGGACTAAAATTTAAATATCACTCTTCTTGGAAATTAAA AAAAATTCAGGAGTACAATTTTTCATATTTTTACTATATGATACTACAGT GGTTCAAGACTCAATTTAACAAACTAAGATGCTTTGGAGCACATAAACGA TGCTCAATAAATATATATTGAATAATTGACTTTTTTGTAATGTCCTCATT GTGAAGAGCACCACACCTTTGATTCCTTATCCAGAAGGACATGTGGTCTT AGGGGATTTTCCCATTCATTTTCAGCCATCTCTTGTGTGGATGACTGCTC GGAAGGGCATTGCATTTGGCACTGTAGTGAAATAGATGTGAGATATGATG GTCATTCTCAAAGATGTCACAGTCTGGTAGTGGAAGCAAGGGAATAGGAG AGAAGATGAAAAATATGAGCTAAGACATGAAGGTCAGTCTCACTACTGGA AGTTCTTAGTGGAGTAAAGTGGGATTGTAACTATCTTGAGGATTAGGGGA AATGGTAAAATCAGTCTAATATTAGACTTAAGAGTAGTGGAAGACAGAGT TGGAAAGATAGTGTCATTGTGTATGAGTATTTTTGTTTGTTTGTTTGAGA TGGAGTTTTGCTTTTGTTGCCCAAGCTGGAGTGCAGCGCCATGATCTCGC ATCACTGCAACCTCCGCCTCCTGGGTTCAAACGATTCTCCTTCGTCAGCC TTCTGAATAGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCTAATTTT TCTTTTTAGTAGAGATGGGGTTTCATCATGTTGGCCAGGCTGGTCTCACA CTCCTGACCTCAGGTGATCCACCCATCTTGGCCTCCCAAAGTGCAGGGAT TACAGGCATGAGCCACCGTGCCCGGCCTTGTTTTTGTTTTTTTAAGAGAC TAGGTCTCACTTTGTGGGCCAGGCTTCTCTCAAACTCCTAGGCTCAAGTG ATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCAC TTGTGTCTGGCCTAAGGTCTGAGTAGTTTGGACATTATCCAAGAAATGTA TGGGAGTTGCTGATGACTTTGGAGCACAGTGTTAATATGACGTGTGGTAG GTTAGAAAGAATAATTTTATCTTATATTAATAATTATTTTAGGCTGGGCA TGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG04199.hp2 HG03491.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0036 a0001c0002t0005g0039 a0001c0002t0005g0036 a0001c0002t0005g0039	2	292	0.0069	-2848	c.-19 others(20): Show c.-191-11592_-191-8745del		CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR33_chr11_1883078_1896895	1894047	GGAGTGTG others(2841): Show GGAGTGTGGGAGTGTGTGTGTGTGTGTGTGTGATAGGGCCTCACTCTGTT TCCCGGGCTGGGAGTGTGTGTGTGTTTGTGTGTATGTGTGTGTGTGACAA GTTCTCTGTTTCCCAGGCTGGAATGTGTGTGTGTGTGTGTCAGAGCCTCA CTCTGTTTCCCAGGCTGGGAGTGTGGGAGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTCAGAGCCTCACTCTGTTTCCCAGGCTGGGAGTGCAGTGGCAC AATGAGAGCTCCTTGCAGCCTCAACCTCCTGGGCTCAACGGATCCTCCTG CTTCAGCCTCCCAAGTAGCTGGGACCGCAGGTGCCCACCACCACACCTGG CTAAGTTTTTGATTTTTTTTGTAGAGACGAGGTCTTGCTATGTTGCCCAG GCTGGCTTCAAACTCTTGGGCTCAAGCGACCCCCCCTGCCTCCACCTCCC AGAGTGCTGGGATTACAGGCATGAGCCCTGCACCCAAGGGTTTGTGCTTT TTTACAGTGTTACATAAATGGCATCCTGCAGCACGCACGCACTCCTTGTC TGACTTCTGTCACGTAGCATAACTATTCTGAGATCCATGCTTGCTGCTGT GTCTGTTGTAAACACTCATTTTTATTGCCACAGCATGGGTACACCCCAAC CCGCTCATCTGTTCGTCTCTTGGTGGACATCAGGGTGGTTTCCAGTTTTG AATGATGGAAAGTAATGTGGCCATTTACATTCACACACAGGTTTTCAGAA GGACATACATTTCCTTTACTCTTGGGGAGAGGCCTAGAAATAAAACGACT AGATGCCGTGGGAGGTGTGTGTGAAACTTGTTCAGAAACGGCCTAGCTCT CATTTCTTGTTGCAGTTGGAATGGTTCATCTCGCTGACTTTGGCCCTTCC TAGACGTGGAGGGTGCGGTCTGTGATTTTGGCTTGCGTGTCTCCCGGCAC CAGGGGTGCCGTGCAGCTTTGCACGTGCTACTTCACCACTGATACATCTT GCTGGGGGAAGCATCTGTTCAGATCTTTTGCCCGTTGCTGTAAAATTGGG TTATTTGTTTTCCTATTGTTGAGTTTGAGAGTTCTTTCTTTCTTTTTTTT TTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCC ATCTTGGCCCACTGCAACCTCCGTCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCCAGGTAGCTGGAACTACAGGCATTTGCCACCACGCCGGGC TAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGTTCAGGCT GGTCTCGAATTCCTGACCTCAAGTGATCCGCCTGCCTTAGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGAGAGTTCTTTGTATATATTCT GAATCAATCCTTGATGAAATAGATTTGCAAAGATTTTTCTCCTGGTTGGT GGCCTTGTCCTCTCACCGTTAACCATCTGAAGAGCAAATTTTAAACATTT TTGATGAATTTCAGTTTGTCAATTTGTTCTTTTAGGAATTGTGCTTTTGG TATCATGTCTGAGAAATCTTTGCCTTATCCAGAGCCATAAAGATTTTCTC CTGTGTTTTTATGGCTCCAGCTTTACATTTAGACCCACGATCCTTTTTGA GTTAATGTTTGTGTATAGTGTGAGGTACGAATGCAAATTATTCTTCTTTT TCTTTTTGCATATGGAGATCCAGTTGTTCCAGAATATGAAATTGCTGCAG CATGGTTTCTTGAAGAAGCTACAGTTGTGCACCGAGTCGCCTTTGCACCT TTGTCAAAAGTCTGAACTGTGCATGGTGGTGGGTGCCTGCGGTCCCAGCT ACTTGGGCGGCTGAGGTGGGAGGATCCCTAGAGCCTGGGAATTTGAGGCT GCAGCGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGA GACCCTGCCTGAAAAAAAGTCATCAGTCTGTGTGTGTAAGCTGATTTCTG GACCGTTTTCTTTTGGATCTACTTGAATATTTTTACACCAGTATCACTCA AGTTTTGCTTACACTGGTCTTATATGAATTCTTAGAATGTTAGCTCTTCA ATTGTGTTCTTTTTCCGGATTGTTTTAGCTCTTCTCCTCCTCTGCTTTTC CATATGTGTTTTAGAATGGACCTGTGAATTTCTATAAATGCAGGGAGAGT TGACATCTTAACAGTATTGAACTTACTAATCCACGAACCTTGGATGTCCC TATTTATTCAGGTCTTCTTCCACTTCTTCCAAGGATTTTTTACTCTTTCA ATTTGGAGGTCTTTCACATCTTTTGTCAGATTGACCTCTAAGTATTGTCT ATTTTTATACAGTTAGGAAGTGGTATTTTTAATGTCAATATCTGATAGTT GATTACCATTTTATAGAAACACAATGGACTTTGTATATCAGTCTTGTTAT TCCACAACCTTGTTAATCTCACTGAGTAGTTCTTGCAGGTTTTTCTTTTG TTGTTGATTCCATCGGGTTAGATGGTCACGTTATCTGTAGATAAGATTGT TTTCTTTTTCCTTTCTCGTCTGTATGGCTTTTATTTCTTTTGGGGGCCTA ATTGCACGAGCAGGAACCTCCAGGTCAATGTTGGACGGAGGTGATGAGGG CGGACATCCCAGCCTCCTTTCTGTTCTTAGTGAGAAACTGTTCAGTCTTC CGCCATCGGTTGTGGGGTTTTCATAGATATCCTGTATTAGGTTAGGGAAG TTCCCTCTATTCCTAATTTACTGAGTGATGTTTTTTAAACAAATCAGGAA CCGACGTTGGATTTTTCAAATGCTTTTTCTGTACTGTTAAAAGAAAAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(302): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0009 a0001c0012 others(15): Show a0001c0001 a0001c0009 a0001c0012 a0001c0017 a0002c0002 a0002c0013 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0009c0010 a0010c0018 a0011c0011 a0012c0016 a0013c0014 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0009t0001 a0001c0012t0013 a0001c0017t0002 a0002c0002t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0012 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0013t0007 a0003c0003t0001 a0003c0003t0016 a0004c0004t0002 a0004c0004t0010 a0005c0005t0005 a0006c0006t0002 a0007c0007t0008 a0008c0008t0002 a0009c0010t0011 a0010c0018t0010 a0011c0011t0001 a0012c0016t0001 a0013c0014t0006 a0014c0015t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(33): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0009g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0001t0017g0000 a0001c0001t0018g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0009t0001g0000 a0001c0012t0013g0000 a0001c0017t0002g0000 a0002c0002t0002g0000 a0002c0002t0006g0000 a0002c0002t0007g0000 a0002c0002t0012g0000 a0002c0002t0019g0000 a0002c0002t0020g0000 a0002c0002t0021g0000 a0002c0013t0007g0000 a0003c0003t0001g0000 a0003c0003t0016g0000 a0004c0004t0002g0000 a0004c0004t0010g0000 a0005c0005t0005g0000 a0006c0006t0002g0000 a0007c0007t0008g0000 a0008c0008t0002g0000 a0009c0010t0011g0000 a0010c0018t0010g0000 a0011c0011t0001g0000 a0012c0016t0001g0000 a0013c0014t0006g0000 a0014c0015t0002g0000	305	308	0.9903	-2848	c.-63 others(11): Show c.-6311_-3464del		PRR33	ENSG00000283787.2	transcript	ENST00000640310.2	protein_coding					2153		chr11	TogoVar
S100A11_chr1_152027506_152042004	152039157	CGCCTCCC others(2840): Show CGCCTCCCGGGTTAAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG AATTACAGGTGTGCGCCACCACACCCTGCTAATTTTTTGTGTATTTTTAG TAGAGACGGGGTTTCACCATGTTGGTTATGCTGGTCTGGAACTCCTGACC TCGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGAGA GCCACTGCGCCCGGCCACTATAGTTCTTTTTAAGAGAAAATGCCTCACTT AGAACCTGTGCTCAAGGGGCAGCCCAGGTGGCCAAGTTTTGCATGATTTG ACACACTGTGACCCTGTTAGAGTGGACTGGGTTGAAGTTAGTCTGGACAC CAGCACTGCCAATCTATAGGATGGCTGGTAGTGGATGTTTCATGACATAA CATGGAAAGATGAACTAGGGCCAAAAAGCTTCTTGTTTTTGGGAAACTGA AATTAGAAGCACATAGAAAATTAGGCATTTAGAAGAGCTGAAGCTGAACA TTTGCATAGACAGAACCATGAAGTCATGGCAAATAAAACTTATGGAGAAG ACATCATGAGTAAGTGGAAGCTATGAAATTTGGAAGAAATAGACAGAGGG GAATGTAAGCCAATTGCTAACTGTAAATTAAAGAAAAGGCTACTTGGGTG TTCGCTGAATTGTGAAAATGGTGAACCACTGGGAGTGAAGAGCCTGCAGT CTGACTTCATTAGCGTTTTTGTTCTTCCTAAACCTAGTTGTTAGTTTTTC TTACTTTCTCTATGACATTTATTCTTTCAATAACTCTTCAGCCCCATGAA GTAGCTTGAATGAAACCAAAGGAAAAAGCTAAACCAAATAAGTATGACTT GTTCAGAGCCAGGTTGGGGGATCAGCCCCACCCAGTTAGGGCTGCCTGCT TGACAGCTGCTCCCCAGGGTCACGCTGAAAGGGGTTCATTTCTAGGTTAT CAGTCAAAGGAGGGAGAGTTCAGGAAAGGTAGCAGGCAAGGTAGATTTGT CAAAGCAGGCAAACAATGAATCAAACTGAAGGGCTGGAGCCAGCAAGGAG CTGAGGATGAGTGAGAGCTGGTAAACTGACAGCAAGAGACAAAAATAATA TACAGATGGGTAAAAGGGCTTATCAGGAAATAAATGTAGGAACTTCCATG GCTCAAGGTAATTCTTATGTGCAGTCTGATCTCTGTGTAGCATTGGGTTG ATTCTGAAATGGACACAGTACAGTGACAAATGCAATAACAGGGGTGTGAC CAAGACACAATGACAAATGCCAGGAAAGAAATGAGAGGTTAACTCTGGGA GAGGAGGGAAAGTATCCTGGAAAAGTGCTGCTTGAGGTGGGTATTGAAAT ATAAATAAGAATTCACCAGGTGGATGAACATGGTAGTGAAAAAAGGTGAA CTCAGGCAAGATAGCACAGTATTTACAGCCACAGGCTCTGCCACAAGACT GGGGTTCAAATCCCAGTGTCACAACGTATTAGCTATATGAAATCTAGCAA GTTATTTGTTGGCTCTGTGTCTCAGTTTCCTCATCTGTAAAGTGGAGAGA ATAGTAGTTGTTGTGAGGATTAAGAGTTAATTCATGTTTAATGCTTAGGA CTTACAGCAGTGTCTTCAGAGGAAGTTTTACATAGTGGCTTGTGCAGAAT TAAGGTTCGGGATGAAACATTGTTCGTGTTCTCAGTACTTGCAGGTGGTT CAGTAGAACCAGACTTAGGGTATGGGGTGATGGTAAATGTGAGGCAGAAG CTGTGGGATGTGAGATGGGAGAGACAAGGGTCAGCTCATTAGGAGATATA CTTGGAAGTTTGGATTGTAACCTTAGGGTTATGTATCAAGGAACATTGAA GATTTTTAAGCAGGACAGTGACGTGATCCCCTTCACTTTTGGAACTGTAG AAAACATGTTCTAGAAAGAAGAAAGACTAGAGGCAAAGAATATTAGAATA TTGTTGCAATAACCAGGGTGAGATGGCCATGGAGATGGGGAGAGGGAATT ACCAAATACTGAGAAGGCAAAACCAACCTAACTTCACCACTGTTCAGCTG TGGAGCATTAGAGGAAGGAGGCATCAAGCGTGAATCCTAGGACTCTAGCT TGATAGCCCTGTGGTACCAGTACCATCCCCAAGATAGAGAACATAAACTG AATAACATTTTCGGGGGCTTAAGGGAAGATGATGGTTCGATTCGATATTG ATCAAATTGAGTCTGAGGTAAGTGGGACAATTTGATGCTGGAGGAATTAA GCATGTCCAGTATCTATCTTATGTTCTCTCATAGCTCCTTGTATCATAAT CCCATCATACTCTACTGTCATTTTATGTTTACTTAATCATCTTCCTCACT GGATTCCAAGATGCTTGAGGGCAGAGATGGTGCACTGTTCACTCCAGTAT TTCCAACATTCACTCATTCATTCAGCAGATATATAAGAAGAATCTTCATG TGTGCAGAGCTATCTAAGCATGGAGGCTGTAGTGGTTAACAAGACAGATG AAGTCTCTGTTCAGATGCTGCTCGACCAGCTCAACTTAGGTGAATAAACA ATATTTATAGAGCAAGTGGAGGAAGATGATCCAACATAGAAGAAAGAAGA GAGATGATCAGGGAAGCAGGAGGAGGCTTCTCTGGTGTCATCAAAGCTCA TGAAGAGAGACTTCCAAGATACAGGGAGTGGTCAACAAGGTGAAAGACTT CAGCGAGGCAGAGTATGGTGGAGGCTGAGATGTGTCCACCTGATTGGCAA TCATATCCTTGGATACCTTTGCCAGAGCAGTTTTAGTGTGGTGGTAGGAA GAAACACAGATGGCAGTGGACTGAGGAAGAGAGATGAAGAGTAGAGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	362	0.0028	-2847	c.-50 others(11): Show c.-5089_-2243del		S100A11	ENSG00000163191.6	transcript	ENST00000271638.3	protein_coding					2154		chr1	TogoVar
SLC1A1_chr9_4485468_4592469	4501099	GTGTCCAA others(2840): Show GTGTCCAACACAGGACAATTGTCACAGCAGATCTCCGCATGTCTAGGAAG GCTCTTGATAGTAGAAAGTGTTTTAAATGGCCTTTTCTATTTTGTTTTGT TTTGAGACAGAGTCTCACTCCGTCACCCAGGCTGGAGTGTAGTAGTGTGA TCTCGGCAACTGCAACCTCCACCTCCCAGGTTCAAACAATTTTCCTGCTA TCATCATGTGACTCTCTGCTTGGTCTGCATGTTGAAGCAATAGCAGACTT TGGGACTGGAACTTGGCTTCGGAAACACCCTCAGAGAGGGTCCACATGGC CACATGGTGTGTTTATTCTTATAATCTCTCTGAGACAACTATTTGGGTAT AACACTTCCAGATGTAGTTAAAACTACAGCACTTTGGCCAGGTACGGTGC TCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGTGGGCAGATCACCT GAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTC TACTAAAAATACAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAATCCC AGCTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCAGA GGTCGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAATGAG AGCTAAACTCCATCTCCAAAACAAAACAAAACAAAACAAAACAAAGAAAA CTACAGCACTTACTCAACCAAGGGGGAAATCCTTATAGGAGAGAGCTTAG GTGAGAATGTACAATTATTTTTCTACCATTGTTCTATTGCTTAAGAGTTA CCTCGTTACTAATAATTCAGTAAGGAATTAAGTCAACATAAAAAAATGCA CCATCACCAGAAATGCCTAAACTACAGAGAGCCTAATCTCTGAGCCTCTC CCCATTACTGGAAAATAAACTGATACTGTTCAACTTCTGTGGGTATCTCA AAGACTTGTTTTCTGAGCCACTTAGCAGGTTTCATTTAAGATTTCCCCAA ATTATGGGCCAGGCACAGTGGCTCACATCTGTAATTCTAGCACTTTGGGA GGCCAAGGCATACAGATGGCTTGAGCCCAGGAGTCCAAGACCAGCCTGGG CAACATGGTGACACCTCATCTCTACAAATAATACAAAAATTAACCAGGTG TGGTGGGTCACGCCTGTAGTCCCAGCTACTCAGGGGGCTGAGGTGAGAGG ATCACTTGAGCCCGGGAGGTTGAGTCTGCAGTGAGCCAAGATCACACCAC AGCACTCCTGCCCGGGTGATAGAATGAGACCCTGTCTCCAGAAAAAAAAA AAAAAAAAAAAAAAAAGATTCCCTGAAGTATGAGACATTGAGAGAGAAAG TGAGAGTGACATATTTTCTCCCTTGAAAAGTTCTCTTTGGCTAACCAACC CTAATATCAATATTTATTGAGAATTTACCACGAGTTTTATGTACATTTAT CTCCCATTTGACCCTCAGTACAATGAGTTAGGGGGTTCCCATTTTACCAG ATGAGGAAACTGAAATTTACAAGGCTTAGGTCATGTAGCTGAGCACACAG AGCTAGGATTAGCACCCAGGACTGTCTGATTCCAAAGCTTAGGTTACTAA TTATTAATCATTAAGCAAGTCTTCTTCCTTCCTAGTAAACCTTGATACAC CTACACCTAATTGGTAGTTAGAACCATACTTGGAGACAGGCTTCTTTCTT GCAAAGTGGCCAAATAAAGCCTATTCTCCTCCTTCTTGCTTCATCCTTTC TCAGTCTTGTAGCTCATCTTTATTGCGTGTGGTTAGTCCTTTCCGCTACG CTTCTCCTACATAAACCTTCTGTTTGAGCTTGAATTCTAGTGAAACTCAT CTAGTTGCTTTCCCAGAACTGTTGTACTTTCATGCCCTAATCCTTTTGCT CAAATGTTTCACTCACTGTTATCCTGCCTATCCTTGAAGATGGATTTAAT TACCACTTTTATGTTGTAGACTTCTCTGACTGCAGTTGGAGATAATCTCC CTTCTCTACATTCTTAACCCTTGATTTATATGCATAAATTATCACCATTA GCACCACCATTCCCACGTCTGTTCTGTGGCAGACATCACTGATTACAGTA CTCTTCACTACTGAGCTCTGTCATGGCCTCAGAATCCTCGAAACTTTGCT CCAGGCAACCACTGTTAATCAAACAGAATTGGTGCCTAAGATGAAAAGTA TTGTTTGTTGCTGGGAAAAGTTTATTCATTTGGCAATCAATTAGGAACTG AATTTAAATTGAGCAAGTACTGATGTTACTGATAAGAGAAGCAGAGTCAA AGTCTGTATTTTGTCCTCTCAGTCCATTGGTGGCAATACATCCACAATCA CTAACATGATCCTGAGTGTGGTAAATGCTGCAAGGAGGCTGCAGCATGCT GTGGGCCTTCAAAGAAGGTGCAACTGGGAAAGTTCCTGGAGGAGGCCATA ATTGGAATGGCCTTGAGCAGGTGTGGTAGGATTTCTGGGCTTGAAGACTG GAACGAGCAAGTCTGTATAAAGGTGATGATACACATAAGGAGGGCTTATC ATCTCTTAGGTTCAATTTCAGTATTACATGGAACTATAATTTAATATATG TGTTGCTGTGCTTTCGCACTTTTTCTTACCTGTTTCCTAAGGACAAGAAT GCAATACTACACAGGTCTGTCACATCATAGCATCCAGCATTGTACTTACT TCACAGGAGGTGCCCCCAGATATATCTGACTGATTACAACCTTCTTCACT GAAGAATTAAAACAGGTAAATCTTTGATGAACCAATCCCATTGATCCCCT AGAAGCCCACTCAGTTGTATGAGTTTTTGAGTGAAGACCATGAGGAAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02970.hp1 others(5): Show HG01884.hp2 HG01891.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0002t0002 a0001c0002t0005	a0001c0001t0002g0344 a0001c0001t0005g0145 a0001c0001t0005g0335 others(5): Show a0001c0001t0002g0344 a0001c0001t0005g0145 a0001c0001t0005g0335 a0001c0001t0007g0094 a0001c0001t0012g0095 a0001c0001t0012g0338 a0001c0002t0002g0334 a0001c0002t0005g0256	8	384	0.0208	-2847	c.91+ others(17): Show c.91+10331_91+13177del		SLC1A1	ENSG00000106688.12	transcript	ENST00000262352.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF30_chr19_34921903_34950168	34932578	TTAATATA others(2840): Show TTAATATACATTTGTATTAACTGATTTTTAACCTTACAAGCACTCTATAG GTGCTAACCATTTTAGGTGAGAATGCTAAATAAAGCACAGTGTGTTTAAG TGAGTTACGCAAGATCACACAGCCCATAGGTGACGGTAGCAGAAACTTGA ACCCAGGCACTTAGGTTCCACAATCCGCGTTCTCAATCACAATGTCATAC TTTCTTTTTTTTTTTTTTTTTGAGACATAGTCTCACTCTGTTGCCCAGGC TGGAGTGCAGTGTAATGATCTCAGCTCAGCGCAACCTCCACCTCCCAGGT TCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAAGCGT ACACCACCACACCCAGCTAATTTTTGTATTTTTGATAGAAACAGGGTTTC ACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTAATCTGCCC ACCTGGCCTCCAAAAGTGCTGGGATTACAAGCATGAGCCACCGGGCCTGG TTTTTTATCAAGACACAAAGAATAAATGAGTATACACTTATCTATATTTA TAATAGTTAGATAGATAGATAGATTTCATTTAAAATAAAACCTTTCGGCT GGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTG GGCGGATCACGAGGTCAAGATATCGAGACCATCCTGGCCAACATGGTGAC ATCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGC CTATAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAACCC GGGAAGCGGAGGTTGCAGTGAGCTGAGATCGCACACTGCACTGCAGCCTG GCGACAGAGTGAGACTCTGTCTCTACATAAATAAAACCGTTCTCTACCTG TCTGGAATTATGAATCCCCTTGCCCTTCTCGTGTCTGAGATATAAAGGTC AATATCGTTTGACCTTTCATTTATGGCAAATTTAACCAAAGCTGGAAGTA TTTTTGAACTCATATTTTATTTCTTTTCTACATTCTTATCTCATAAGCAG GACATTCCCGTTCTAAACCACATGTGATCGCCTTATTGGAACAATGGAAA GAGCCTGAAGTGACAGTGAGGAAAGATGGAAGAAGATGGTGCACAGGTGA GTAAGAGCATGGCAGGTAGGGAGGCCATTGTTGCTGGAAACAGCCCAGCT GTCAGGGAGGAAGTGCATCTCTGCAATGTTTGGAGGTTTCCCTTCAAAGC CCTAGGGCCTGGGTGGAAAAAGGCTGAGACTTGGGTAAGAAATAAATATC TCACCAGCCTCACAAAAGGAACTTCATCTTTACTTATTTTAATACTCACT CACCTCTTGTTTCCCTCTCATTTTATTACGGACTTAAGTCACTTTCCCAG TGCATTATTCCATCTGTGTATTGAATTTCACTTCTTTCACCTCCTCTTTT ACATTTGGATTTATTCATATATTCTTAGACAGTAATAGTTGAACAGAGAC AGGAAAAATGAGGGTTCAGGCCTTGTAATTATGTAAGACATGCCAAGCAG AGGGAATAGCAGATGTGGATGCTTTGGGTGGGAATGAGTTTTGTGTGCTT CAGGAGCAGTAAGTAGGCTCAGGCAGAATTAATGGGAGGAGTAAGAAGAA AAAAGCTAGAGTGCTAGCAGGAATTTGAATTTGTTTGTTTTGTTTTGTTT TTGAGTGAGACAGTCTTCTTTTGTCACCTAGGCTGGCATACAGTGGTGCA ATCATAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCCATTTTCCTGC CTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGC TAATTTTTTTAATCTTCAGTAGAGACAGTGTCTCACTATGTGGCTCAGGC TGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCCAAA GTACTGAGATTACAGGTATGAGCCATCGTGCCTGGCCAGGAATTTGGATT ATTTTCTAATGTAACTAGAAACTATGACCTAATTTACATTTTTCCAATTT TTGAATTTTAGAAAATTCTAATAAATAGGAAACAGATACCAGAAAAACCA TATTAAAATGTACAGCTTGATGAGTTATTATGAGGCAGATACCTTTGTAA CCATCACTCTGGTCAAAAGATAAAACATTTTTACGGGGGCTGGGGGACAA CAAGAGGGCGAGCATTAGGACAAATACATAATGAACACAGGGCTTAAAAC CTAGATGACGGATTGATGGGTGCAGCAAACAACCGTGGCACATGTATACC TATGTAACAGACCTGCACATTCTACACACATATCCCAGAACTTAAAGTAA AATAAAAAATTTAAAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGTACTTTGGGAGGCTGAGGTGGGTGGATCAGGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTAAAACCCCGTCTCTACTAAAAAAATACAA AAAATTGGCCAGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAG CCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTAAAAAAAAAAAAAATTTTTAAAAACAATTTTTATAAAATAACGTCAGG CTTACAAAAAAGTTGGAAAGTTGTACTAAGAATTTTCATATACCCTTCAA CCCAGATTCTCCAAATGAAGAGAGAAAACTCTTCTACCTTCCCTTAAGGC TTTCATGCCCTGTACCTAATCACAGTTACCTTTCTCCCTCCCTGATTA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0003 a0015c0018t0003	a0015c0018t0003g0277 a0015c0018t0003g0277	1	412	0.0024	-2847	c.160 others(16): Show c.160+586_256+1702del		ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding	4/5						chr19	TogoVar
PRR33_chr11_1883078_1896895	1894049	AGTGTGGG others(2839): Show AGTGTGGGAGTGTGTGTGTGTGTGTGTGTGATAGGGCCTCACTCTGTTTC CCGGGCTGGGAGTGTGTGTGTGTTTGTGTGTATGTGTGTGTGTGACAAGT TCTCTGTTTCCCAGGCTGGAATGTGTGTGTGTGTGTGTCAGAGCCTCACT CTGTTTCCCAGGCTGGGAGTGTGGGAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTCAGAGCCTCACTCTGTTTCCCAGGCTGGGAGTGCAGTGGCACAA TGAGAGCTCCTTGCAGCCTCAACCTCCTGGGCTCAACGGATCCTCCTGCT TCAGCCTCCCAAGTAGCTGGGACCGCAGGTGCCCACCACCACACCTGGCT AAGTTTTTGATTTTTTTTGTAGAGACGAGGTCTTGCTATGTTGCCCAGGC TGGCTTCAAACTCTTGGGCTCAAGCGACCCCCCCTGCCTCCACCTCCCAG AGTGCTGGGATTACAGGCATGAGCCCTGCACCCAAGGGTTTGTGCTTTTT TACAGTGTTACATAAATGGCATCCTGCAGCACGCACGCACTCCTTGTCTG ACTTCTGTCACGTAGCATAACTATTCTGAGATCCATGCTTGCTGCTGTGT CTGTTGTAAACACTCATTTTTATTGCCACAGCATGGGTACACCCCAACCC GCTCATCTGTTCGTCTCTTGGTGGACATCAGGGTGGTTTCCAGTTTTGAA TGATGGAAAGTAATGTGGCCATTTACATTCACACACAGGTTTTCAGAAGG ACATACATTTCCTTTACTCTTGGGGAGAGGCCTAGAAATAAAACGACTAG ATGCCGTGGGAGGTGTGTGTGAAACTTGTTCAGAAACGGCCTAGCTCTCA TTTCTTGTTGCAGTTGGAATGGTTCATCTCGCTGACTTTGGCCCTTCCTA GACGTGGAGGGTGCGGTCTGTGATTTTGGCTTGCGTGTCTCCCGGCACCA GGGGTGCCGTGCAGCTTTGCACGTGCTACTTCACCACTGATACATCTTGC TGGGGGAAGCATCTGTTCAGATCTTTTGCCCGTTGCTGTAAAATTGGGTT ATTTGTTTTCCTATTGTTGAGTTTGAGAGTTCTTTCTTTCTTTTTTTTTT TGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCCAT CTTGGCCCACTGCAACCTCCGTCTCCTGGGTTCAAGCGATTCTCCTGCCT CAGCCTCCCAGGTAGCTGGAACTACAGGCATTTGCCACCACGCCGGGCTA ATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGTTCAGGCTGG TCTCGAATTCCTGACCTCAAGTGATCCGCCTGCCTTAGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGTGAGAGTTCTTTGTATATATTCTGA ATCAATCCTTGATGAAATAGATTTGCAAAGATTTTTCTCCTGGTTGGTGG CCTTGTCCTCTCACCGTTAACCATCTGAAGAGCAAATTTTAAACATTTTT GATGAATTTCAGTTTGTCAATTTGTTCTTTTAGGAATTGTGCTTTTGGTA TCATGTCTGAGAAATCTTTGCCTTATCCAGAGCCATAAAGATTTTCTCCT GTGTTTTTATGGCTCCAGCTTTACATTTAGACCCACGATCCTTTTTGAGT TAATGTTTGTGTATAGTGTGAGGTACGAATGCAAATTATTCTTCTTTTTC TTTTTGCATATGGAGATCCAGTTGTTCCAGAATATGAAATTGCTGCAGCA TGGTTTCTTGAAGAAGCTACAGTTGTGCACCGAGTCGCCTTTGCACCTTT GTCAAAAGTCTGAACTGTGCATGGTGGTGGGTGCCTGCGGTCCCAGCTAC TTGGGCGGCTGAGGTGGGAGGATCCCTAGAGCCTGGGAATTTGAGGCTGC AGCGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGA CCCTGCCTGAAAAAAAGTCATCAGTCTGTGTGTGTAAGCTGATTTCTGGA CCGTTTTCTTTTGGATCTACTTGAATATTTTTACACCAGTATCACTCAAG TTTTGCTTACACTGGTCTTATATGAATTCTTAGAATGTTAGCTCTTCAAT TGTGTTCTTTTTCCGGATTGTTTTAGCTCTTCTCCTCCTCTGCTTTTCCA TATGTGTTTTAGAATGGACCTGTGAATTTCTATAAATGCAGGGAGAGTTG ACATCTTAACAGTATTGAACTTACTAATCCACGAACCTTGGATGTCCCTA TTTATTCAGGTCTTCTTCCACTTCTTCCAAGGATTTTTTACTCTTTCAAT TTGGAGGTCTTTCACATCTTTTGTCAGATTGACCTCTAAGTATTGTCTAT TTTTATACAGTTAGGAAGTGGTATTTTTAATGTCAATATCTGATAGTTGA TTACCATTTTATAGAAACACAATGGACTTTGTATATCAGTCTTGTTATTC CACAACCTTGTTAATCTCACTGAGTAGTTCTTGCAGGTTTTTCTTTTGTT GTTGATTCCATCGGGTTAGATGGTCACGTTATCTGTAGATAAGATTGTTT TCTTTTTCCTTTCTCGTCTGTATGGCTTTTATTTCTTTTGGGGGCCTAAT TGCACGAGCAGGAACCTCCAGGTCAATGTTGGACGGAGGTGATGAGGGCG GACATCCCAGCCTCCTTTCTGTTCTTAGTGAGAAACTGTTCAGTCTTCCG CCATCGGTTGTGGGGTTTTCATAGATATCCTGTATTAGGTTAGGGAAGTT CCCTCTATTCCTAATTTACTGAGTGATGTTTTTTAAACAAATCAGGAACC GACGTTGGATTTTTCAAATGCTTTTTCTGTACTGTTAAAAGAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	308	0.0033	-2846	c.-63 others(11): Show c.-6311_-3466del		PRR33	ENSG00000283787.2	transcript	ENST00000640310.2	protein_coding					2155		chr11	TogoVar
DCPS_chr11_126299060_126355005	126314413	TTACGGGA others(2838): Show TTACGGGAAACAGTGTGGAAATTCCTTAAAGAACTAAAAGTAGATCTACC ATTTGATCCGGCAATCCCACTACTAGGTATCTACCCAGAGGAAAATAAGT CATTATATGAAAAAGATATTTGCACATACATGTTTATAGCAGCACAACTT GCGATTGCAAAAATATGGAACCCACCCAAATGTCCATCAATCAACAAGTG GATAAAGAAAATGTGGTATATATCATACCATGGAATACTACTCAGCCATA AAAAGGAATGAAATAATGGCATTTGCAGCAACCTGGATGGAATTGGAGAC TATTATTCTAAGTGAAATAACTCAGTAATGGAAAACCAAACATTGTATGT TCTCACTCATATGTGGGAGCTAAGCTATCAGGATGAAAAGGCATAAGAAT GATACATGGGACTTAGAGGAAAGGGTGGGGAGTGGTGAGGGATAAAAGGT TATACATTAGGTACAATGTACACTGCTCAGGTGATGTGTGCATCAAAATC TCAGAAATCACCACTAAAGAACTTATTCACGTAAGTTCCTACCTGTTCCC CAAAAACCTATTGAAATAAAAAAATAAAAAAATTTAAAAAAATTGCTCTA CCGTAAAGACACATGCACACATATGTTCATTGTAGAGCTATTCATGATAG CAAAGACATGGAATCAACCTAAATGCCCACTTGAGGGTGGAGGGTTGGAG GAGTAAGAGGATCAAAAAACTCCCTATCAGGTATTATGCTTATTACCTGG GTGATGAAATAGTCTCTATGCCAAACCCCTGCGAGACAATTTACCTGTAA ACAAAGCTGTACATGTACCCTTTAACCTAAAATAAGAATTAAAAAAAATA AAAAGAATATTTCTGGGCTGGGTGCAGTAGCTCATGCCTGTAATTCCAGC ACTTTGGGAGGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCGAGAC CAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAATT AGATGGGTGTGGTGGTATGTGCCTGTAGTTCCAGCTACTCAGGAGGCTGA AGTTGGAGGATTGCTTGAGCTCAGGAGGTCAAGGCTGCAGTGAACTATGA TTATGCCGCTGCACTCCAACCTGGGTGGCAGAGCAAAACCCTGTCTCTTA AAAAAAAATAAAAAGAGAAAAGAAAACCAGTAAAACCATTAAGGAGTATT TACATGATTGAGGCCATATTAATATGCATGCTCAACCAGAGTGCTAAGTT TCTAGTTTTTCCTCCACCTGCCCAGTGTATCATCTCCATGCCACTCAAAG GAGATTGCTTTATTTTCTCTTTGAGACAGTCTCAGTCTGTTGTCCAGACT GGAATACAGTGGTACCTCTCAGCTCATTGCAACCTCCACCTCCCGGGTTG AAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACGGGTGCCT GCCACCACACCAGGCCAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAT CATGTTGGCCAGGCTATCTCAAACTCCTGACCTCAAGTGATCTGCCCACC TCACCCTTTCAAAGTGCTGGGATTACAGATGTGAGTCACCACGCCTGGCT GGAGAGTGCTTTTGATGTCCAGGTCGAGTGGATTCTCTTTTCTTGCATTC CAACAGTCCTTCAAATCATGCTGCTTTTTAGTTTGTTTCATATTTGAACC ACTGTTTTATTAGCTTTTACTTTTTCATGGAGTTTTTAGTTGCCTCTTTT TTCATTGTGGTTAAAGGAATAATGTACCTTTACTCTGCTCTTGAAATTAT CCAGTGTGATAATCCATTACATCAAGCTTGTCCAACCCGCAGCCCAGGAC AGCTTTGAATGCGGCCCGACACAAATGTATAAACTTTCTTAAAACATGAG ATTTTTTCCGTGATTTCTTTTTTTTTTTTTCAGCTCATCAGTTATTGTTA GTGTTAGTATATTTCATGTAAGGCCCAAGACAGTTCTTCTTCCAGTGTGA CCCAGGGAAGCCAAAAGATTGGACACCCTTGTATTACATCATATTTCCTT CCTTGCTGGTAACATTGTTTCCAGAAAGCTCTTTCCTGCTTCTCCAATCT GGACAGGTGATTCTTTAAGCAAGTTGTTCAGGTCTCAATCTGAGACTTCC TTTTGCAACTTCTGTGAGTTAGATGTTTTCTGTATTCTACGTCTGTTTCT TTCTTGTTTTACTCTCTTGATTAGCTGAAGTACATTTTTTTTTTTTCATG TTTTTCTTGAGATGGAGTCTCGCTCTGTCGCTCAGGCTGTAGTGCGGTGG CGTCGTGATCTCAGCTGACTGCAACCTCCGCCTCCCGGGTTCAAGCCATT CTCCTGCCTCAGCTCCCAAGTAGCTGGGATTACAGACACCCGCCACCGCG CCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCTTGTTGG CCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCT GCCAAAGTGCTGGGATTACAGGTGTGACCCACCATGCCCGGCCTCTTTTT TTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTG CAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGTGCCAC CACGCCCAGTTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCAT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0103 a0001c0001t0013g0103	1	342	0.0029	-2845	c.376 others(18): Show c.376+7671_376+10515del		DCPS	ENSG00000110063.10	transcript	ENST00000263579.5	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr11	TogoVar
DLGAP1_chr18_3491032_4460307	3568914	CTGACCTC others(2833): Show CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG CCATGAGCCACCACGCCTGGCCTAAATGATTATTTTATTTTATTTTATTT TATTTTTGAGACAGAGTCTCACTCTGTCCCCCAGGCTAGAGTGCAGTGGC GCAATCTCAGCTCCTGCAACCTCCGCTTCCCGGGTTCAAGCAATTCTCCT GCCTCAGCCTCCCGAGTAGCTGAAATTACAGACGCGTGCCACCATGCCCA GCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATGTTGGTCAGG CTGGTCTCGAACTCCTGACCTCGTGATTTGAGTGCCTCGGCCTCCCAAAT TGCTGAGATTACAGGCGTGAGCCACCGCACCTGGACAAAAATATTTATTG ACTTCTTATGTTTCTATCTGTAAGTTGTCTGTTCATATCCTTTACTAGTC TCCTCCCTAATTAGGCTGTTTTTTATTTTCTTAATCATAGGATCTCTTTA TATTTTATGAACCTAAACTCTTTCTCTGTTACATATACTGCAAAAGTTTT CTCTCAGTTTATCATGTGTCTTTTAAACTTTGCCCTTCATTGGAGAGAGT CTTAGGTAGTCACATCCAGCTTTTATGGTTTGGAAAGGCTTTTTCTCTGA GCATATTTTTAAAAGTCTTCTTGTATTTTCTTTTATGCTTTCATGTTATC TTTTTTTCGTATTTAATTCTTAAATCCACCATCCTGAAATGTTTCTGTCA AAGACACATACCTAGAGATCTACTATTACCCTCCTGTACTACCTCCCTTG GGTTATGAATGGATCTGGCTCCGTTTATTAACTAATTCGCCTTTTTTATT TGAGATGCCAGCTTTATCTGATACCAAACTTTACTCACATATATTTCCCC ATACATTCTCATATAGGCATTCTCATATACAGTCATGACACACATAGTGA CATTTCTGTTAACGATAGAGCACATATACAATAGTGATCATAAGATTATA ATGGAACTGTCCTGTGCAGAAGTACCATTCTGTATCTTTTGTACTGTATT TTTACTGTACCTTTTCTATGGTTAGATACACAAATACTTAACATTATGTT ATAATGGCCTACAGTGTTCTGCATAGTCATATGCTGTACAGGTTTATAGC CTAGGAGCAATGGGCCATACTATATAGCCCAAGTGGGTAGTATGCTCTAC CTCCCAGGTTTGTGTAAGTACCTTCTATGATGTTCACACAATGACGAAAT CACCTAATAACACATTTTCCCAGGTGTATCCCTGTCATTAAGTGACATAC ATATAAAGACCTGTTTCTGGCCTATTGATCTGCTGGGCTTATTGACCTTC CCTCTCCTTTTTCCTAAATTTTTTTTTTTTTTTGAGATGGAGTTTCACTC TGTTGCCCAGGTTAGAGTGCAGTGGTATGATCTCGGCTCAGTGCAACCTC CACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG CATTATAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTCGTAG AGACGGGATTTCACTACATTGGCCAGGCTGGTCTCGACCTCCCAACCTCA GCTGATCTGCCCGCCTCAGCCTCTCAAAGTGCTGGTTGCATGTCTGGCCT TTCCTAATATAATTTTGTAATCAGTCTTGATATTTTCTATGGCAAGTCTC CTCCTGTAGTTCCTTTTTCAAAAAGTATAATTAGGCTAGGTGAGGTGGCT CATGCCTGTAGTCCTAGCACTTTGGGAGGCCGAGGTGAGAGGATCGCTTG AGCCCAAGAGTTAAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCT ACAAAAAATAAGAAAAAAAATAGCTGGGCATAGTGGCATGCGCCTGTACT CCCAGCTACTCAGGAGGCTGAAGGAGGATTGCTTGAGCCTGAGAGGTGGA GGCTGCAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGAGTGACAGA GCAAGACAGTGTCTCAAAAAAAAAAAAAAAGGTAATTTAAAAACAGAACA AACCAAAACAAAAATCTCTAGGTTATTTTGGAGTATTAACTTCTAAGTAA ACTTTAACATCAAATTGTCAAGCTCGTCCTGTTAGCCTCCACCAAGTGAT AAAAATCATATTGGAATTTTTATTGGAATTTCTTTAAATATTTGTATTAA TTTTCAGGAAATTGTTGTCTTTTTACTATGTAGTATTCCTGTGTAGGAAT AGTAAATAATTTTCCATTTATTACAGTATTATATTTTATTTATTTATTTG CTGGATGAGATCTTGCTATGTTGCCCAGGCTACAGTACAGTGGCTATTCA CAAAGTCGATCCCATTAGTGATCAGCAGGGCAATTTTGACCTGCTCCTTT TCTGACCTGAGCCAGTTCACCCCTCCTTAGGCAAACTGATGGTCCCCTGC CCCTGGCAGGTCACCATACTGATGCTGAACTTACTGTGGACACCCCATCA CTATAGTGCACTACAGCCCAAGACTCCTGGGCTCATGTGATCCTCCTGCC TAAGCCCCCTGAGTAGTTGAGACACAGGTGTGCATGACCATGCATGGAGG TTATTTACTTATTTATTTATTTTCAGATGGAGTCTTGGGACTCTCACTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAGTCTCGGCTCACTGCAACCTCC GCCTCGGGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAATAGCTGTG ACTGCAGGCGCGTCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGA GACTGGGTTTCATCATGTTGGCCAGGATGGTCTGGATCTCT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0027 a0001c0003t0021g0027	1	80	0.0125	-2840	c.196 others(19): Show c.1966-4173_1966-1334del		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	8/12						chr18	TogoVar
ERC1_chr12_986223_1500931	1088059	GAAAGTGC others(2833): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTG AGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTG TTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTA TTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCT ATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATT ACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTT GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATA TGCCTATGCCTGGCCCATTATTATTATTATTATTGTTGTTGTTGAAAGTG CTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTG TTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCA TTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATG CCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAG ATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTT GTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATT ATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTAT GCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTAC AGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGA AAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTAT TATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTG GCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCA ATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTG CTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTG TTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCA TTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATG CCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAG ATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTT GTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATT ATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTAT GCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTAC AGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGA AAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTAT TATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTG GCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCA ATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTG CTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTG TTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCA TTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATG CCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAG ATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTT GTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATT ATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTGT GCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTAC AGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGT TGTTGTTGTTATTATTATTATTATTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02886.hp2 others(2): Show HG01952.hp2 HG02055.hp2 HG02886.hp2 HG02896.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0057 a0002c0002t0002 a0001c0001t0057 a0002c0002t0002	a0001c0001t0057g0156 a0002c0002t0002g0087 a0002c0002t0002g0089 others(2): Show a0001c0001t0057g0156 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091	5	162	0.0309	-2840	c.108 others(19): Show c.1086+4480_1086+7319del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18						chr12	TogoVar
SLC18A1_chr8_20139855_20188136	20156313	TCTGTTAA others(2829): Show TCTGTTAAAAAAAAAAAAAGATGACTTAACATTAACCACTGAAAATTCCC TTAACCCAGCCAATTTCCTAACAGGGGATTTTAATCTTAATTACCATACG AAGGTCTGACCAGACTCAGGAGGTACCCCCTTAAGGACAGGAAGATAGAT GGTTCCTCCCGGGTGACTGAGGGAAAAAACCGTAATGGGTATTCAGTAAT TGATAAGGAAACTCTTGTAGAAGCAGAGTTGGGAAAATTGCCTAATAATT GGTCTGCTCAAAGGTGTGAGCTGTTTGCATTCAGCCAAGCCTTAAAGTAC TTACAAAACCAGTAAGCCCATCTTTTTCTCCTTGCTCTTCTTCTTTTAGG AAAAAGGCACACAGGATAAACAGGATCCATCTCTCATATTTCTTACCCAA AAGGACTTAATCCGGGGCAACAAAAAGTTTAAGATCAATAATTAGGGTGT ATTCCTACAAAGGAAAAGGACAAATGCCCTAGTGGGCAAAAACTCTATCT CAATCCTGACTCAAAGGGTTACCTACACCCTCTCTGAAATGAATTTGCAT AAGAATTGTTGTTTATGGGAATGCATCTTGATGGGGCAACTGGGTTGCGC AGCCCAGCTCAAGAACTCACCCCTGATCGCAAAGGCAATGTTGGGCACGC TGGTAATGGACCACCATAATCCAGCAGCCTGGACTCCTTTCTTTGTGGTC AAGAAAGGCGGGAAAACAGGTGCAGGACTGCTACATCGGTGAGCGTAACT AATCCGGTAAGCAGATGTCCCTGGGTGGTTACACACCCTGGAAAGGAATA AGCATTAGGACCATAGAGGACACTCTAGGACTAATGCTCATCGGAAAATG ACTAGGGGTGCTGGCATCCTCATGTTCTTTTTTCAGATGGGAAACGTTTT CCCCAAGGCAAAAACGCCCCTAAGATGTATTCTGGAGAGATATAATGTTA CTGCTAGATCAGACACTAACCCCAAATGAAAGAAGGGCAGCTATAATTGC AGCCTGAGAGTTTGGCGATCTCTGGTATCTCAGTCAGGTCAATGATAGGG TGACAACAGAGGAAAGAGAACGATTCCCCACAGGCCAGTAGGCAGTTCCT AGTGTAGACTCTCATTATGATGCAGAATCACAACATGGAGATTGGTGCCG CAGACATTTGCTAACTTGCGTGCTAGAAGGACTAAGGAAAACTAGGAAGA AGGCTATGAATTACTCAGTGATATCCATTATAACACAGGGAAAGGAAGAA AATCCTACTGCCTTTCTGGAGACACTAAGGGAGGCATTGAGGAAGCATAC CTCTCTGTCACCTGACTCTATTGAAGGCCAACTAATCTTAAAAGATAAGT TTATCACTCAGTCAGCTGCAGATATTAGAAACAAACTTCAAAAGTCCACT TTAGGCCCAGAGCAAAACTTAGAAACCCTACTGAACTTGGCAACCTCAGT TTTTTATAATAGAGATCAGGAGGAGCAGGTGGAATGGGACGAACGGGAGA AAAAGAAGGCCACCCCTTTAGCCATGTCCCTCGGCAAGTGGACTTTGGAG GCTCTGGAATATGGAAAGCCTGGGCAAATCAAATGCCTAATAGGGCTTGC TTCTAGTGCAGTCTACAAGGACGCTTTAAAAAAGATTGTCCGAATAGAAA TAAGCCACCCCCTCATCTATGCCCCTTATGTCAAGAGAATCACTGGAAGG CCCACTGTCCCAGGGGACGAAGGTCCTCTGAGTCAGAAGCCACTAACAGA TGATCCAGCAGCAGGACTGAGGGTGCCCAGGGCAAGTGCCAGCCCATGTC ATCACCCTCACAGAGCCCTGGGTATGCTTGACCTTTGAGGGCCAGGAGGT TAACTGTCTCCTAGACACTGGTGCAGCCTTCTCAGTCTTACTCTCCTGTC CCTGACAACTGTCCTCCAGATCTGTCACTATCTGAGAGGTCCTAGGACAG GCAGTCACTAGATACTTCTCCCAGCCACTAAGTTGTGACTGGAGAACTTT GCTCTTTTCACATGCCTTTCTAATTATGCCTGAAGGCCCCACTTCTTTGT TAAGGAGAGACATTCTCGCAAAAGCAGGGGCCATTATACACCTGAACATA CAGAAGGAACACCTGTTTGTTGTGCCCTGCTTGAGGAGGGAATTAATCCT GAAGTCTGGGCAACAGAAGGACAATATGGAGGAGCGAAGAATGCCCGTCC CGTTCAAGTTAAACTAAAGGATTCCACCTCCTTTCCCTACCAAAGGCAGT ACCCCCTTAGACCTGAGGCCCAACAAGGACTCCAAAAGATTGTTAAGGAC CTAAAAGCCCAAGGCCTTGTAAAACTATGCAACAGCCCCTGCAGTACTCC AATTTTAGGAGTCCAGAAACCCAACGGACAGTGGAGGTTAGTGCAAGATC TCAGGATTATCAGTGAGGCTATTGTCCCTCTATACCAAGCTGTACCTAAC CCTTATACTCTGCTTTCCCAAATACCAGAGGAAGCAGAGTGACTCACAGT CCTGGACCTTAAGGATGCCTTTTTCTACATCCCTGTACATCCTGACTCTC AATTCTTGTATGCCTTTGAAGACCCTCTGTACCCATACTTGCCTGGTAAG CCTATTTAATACCACCCTCACTAGGCTCGATGGAACCTTGGCCAAAATCC TACTAACTGTTGGATGTACCTCCCGCTGCACTTTAGGCTATACATTTCAA TCTCTGTATCTTAACCTCCTGGTTAAGTTTGTCTCTTCCAGAATTGAAGC TGTAAAACTATAAATGGTTCTTCAAATGGAGCCCCAGATGCAGTCTGTGA CTAAGATCTACTACAGACCCCTGGACTGGCCTGCTAG	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18981.hp2 NA19009.hp1 NA18980.hp1 NA18981.hp2 NA19009.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0005 a0002c0001t0001g0005	3	434	0.0069	-2836	c.101 others(19): Show c.1015+5720_1016-5570del		SLC18A1	ENSG00000036565.15	transcript	ENST00000276373.10	protein_coding	10/15						chr8	TogoVar
SNTG2_chr2_945849_1372613	1343382	CTTTTCCC others(2829): Show CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTC TGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCC TGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCT CACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACT CGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGAC AGTGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGC ATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCC AGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGG GCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGA CTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTT TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGG CCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCA CTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGC CTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTA ATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCC TGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCT CACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACT GGCACTTTTCCCCCTGTTGTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTCC CCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0149 a0004c0004t0001g0149	1	190	0.0053	-2836	c.148 others(21): Show c.1489-23957_1489-21122del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2013_chr1_11914591_11931427	11928592	TGCCTCAG others(2828): Show TGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCT GCCTTATTTATTTATTTATTTATTGAGACGGAGTTTCACTCTTGTTGCCC AGGCTGGAGTATAGTGGCGCGATCTCGGCTCACCACAACCTCCACCTCCT GGGTTCAAGCAGTCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG GAACCTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAG TTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTTACTTGTGATCTGCC CACCGTGGCCTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACCACCCCC AGTCCTATTTATTTATTTATTTATTTAGAGAGAGGGTCTCACTCTGTTGC CCAGGCTGGAGTGCAGTGGCACGATCACAGCTCACTGCAACCTCCATCTC CCAGGCTTAAGTGATCCTCCCAACTCAGCCTCCCAAGTAGCTAGAACTAT AGGCCGTCACCATTATGCCCAGCTAATTTTTTTTTTTTTTTTGGTATTTT TTGGAGAGGCAGGTTTTTGCCACATTGCCCAGGCTGGTCTTGAGCTCCTG AACTCAAGCAGTCCTCCTACCTTGGCCTCCCAGAGTGCTGGGATTACAGG TGTGAGCCACCACACTTAACCTTCTTTATTTTTTTTTTTCAATTTTTATT TTAGGTTCAGGGAGTACATGTGCAGGTTTATTACAAGGGGATATTGTGTG ATGCTGAGGTTTAGGCTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTT GCCCAGGCTGGAGTGAAATGGCACGATCTTGGCTCACCACAACCTCCACC TCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT ACAGGCGTGTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGA CAGGGTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCTGACCTCAGATG ATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGTGCCCAGCCTTAAGGTACTGCACTCCAGTCTGGGAGACAGAGTGAGAC TCTGTCTCAAAAAAAAAAAAAAAAGAAAGAGGACATTTTATTATGATTTA TTTTTACTATTATTATTATTAGGGAGGCTTAAGTGCTAGTGAGAGGTGAT CATCCATCTAGCAGCACAGAATATGGCCATCCTACCGAAGCCCTTGCTCT TCCTGGGGCCAAAAAAGGAAATGAATAAAAGAAAAGGATGAAAATGAGAA AAGCCCCTCATGTCACCGGGCAGCTGCCCTCCAGGCCAGCTATCCTTTCT ACACCTTCCCTAGAAATCTGAGTCCTGCGCCTTTAACTGTCCACAGCACG TGCAGCACGTACCAGAAGTAACATCTGGACGGCAGCCACCACTGGTTAAA GAGACAGGCCCCCTTTCTCCATGAAGCTTGGGCAGGGTTCAAGTTTCAGC AATTTGGTGAAGGGAACAGGAAACAGATACCAAAGGAGGAGAGGGCAGGC TTTGCCAGAGTGAATCCTTTCTCCCAGAGAGGCCAGCAGCCTCCAAGATT GATTCCCCCTCCTGACTTAAAATGACTTTTGGGCATGGGACTCCCACTGC CCAAGGGGTTTTTTCTTTTCCTTTTTTTTGAGACAGAGTCTTACTCTGTA ACTCAGGCAGAAGTACAGTGGTACAATTACGGCTCACTGCAGCCTCAACC TCTTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCTGAGAAGCTGAGATT ACAGGCGCACACCACCATGCCCTCCTAATTTTTTTTGTGGAGACGGGAGG TGGGTGGGGGCGGAGGGACGGGTCTATGTTGCCCAGGCTGGTCTTGAACT CCTGGTCTCAAAGGATCCTCCCACCTCAGCCTCCCAAAGTGTTGGGATTA CAGGCGTGAGTCATGGCACCTGGCCTCAAGGTTTTGTTTTTTTTTTCTAT TCATAGTACATCACCATTGAGGTTCTCCTTGGACTACAGCAAATGGAGGG TTAGAGCTGGGTTCCAATGCTGCCTCCCTTACTGTAGTTCTGCATCAGTT GTGTGGCGTCGAGCAGATTGCTTCACTTCTCTGGGTCTGTTTTCTCATTT TGCAAATGGGGCAATACTGTTTAATTAGCAAGGCTGTTGCGAGCAGGGAA TGAGGGAGAGTTTTGAAAACTGAACCAGGGGCCGGGAGCATTGGCTCACA CGTGTAATCCCAGCACTTTGGGAGGCTGAGGAAGGCAGATGTCTTGAGCT CAGGAGTTTTAGACCAGCCTGGCCGACATTGTGAAACCCTGTCTCTACAA AAAAAAAAAAAAAAAAAAAAATTAGCCAGGCAAGGTGCATGCCTGTAGTC CCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACCTGAGCCCAGGAAGTT GAGGCTGCAGTGGGCTGTAATCACACCACTGCACTCCAGCCTGGGCAGCA AAGTGAGACCCTGTCTCAAAAAAAAAGAGAACATGGAACCAGCCAACAAA TGCTCATTCTCCTCCCTCTGCTCCTCCTGGCATTTCCTCTTCCTCCAGGG GTCTGGAGTCTGAGTCTGCATCCTCCTGAATCCAAAACATCCGGTGGATT CTGGCACCAAGTCCTGTCTCCAGATGCTGAAACTCCCAGCCCTGGATCCC AGCTGGGAGGTAGGGGCCCTGGATTCTGCTCAGGCCTCTTCCTTTTACTT GCCTTGGGACCTTGAGCTTGCTGCCCCATGCCTATGGATATCACTTGTGC TATCTGTGCAATGAGCACATCTCCATACAATGAGAT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA18948.hp2 NA18952.hp1 others(4): Show HG04228.hp1 NA18948.hp2 NA18952.hp1 NA18990.hp2 NA18994.hp1 NA19082.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0001 a0002c0004t0001 a0001c0005t0001 a0002c0004t0001	a0001c0005t0001g0070 a0002c0004t0001g0016 a0002c0004t0001g0071 a0001c0005t0001g0070 a0002c0004t0001g0016 a0002c0004t0001g0071	7	444	0.0158	-2835	c.-51 others(11): Show c.-5190_-2356del		KIAA2013	ENSG00000116685.17	transcript	ENST00000376572.8	protein_coding					2166		chr1	TogoVar
BRSK2_chr11_1384934_1467689	1429523	GCTGTGCC others(2827): Show GCTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGG TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTC AGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01496.hp2 NA18959.hp1 HG00621.hp1 HG01496.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0001g0130 a0001c0001t0003g0268 a0001c0001t0001g0059 a0001c0001t0001g0130 a0001c0001t0003g0268	3	360	0.0083	-2834	c.92- others(15): Show c.92-6322_92-3489del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
DLG5_chr10_77785791_77931755	77864098	GTTGCCCT others(2826): Show GTTGCCCTGGCTGCTATGGTCACCACCACCGAGGCTCAGCAAATGAACTG GCAGCTGGGTGGATTTCTCAGCCACCGCCCTTTGTCCTGGGCTCCCTCAC TGTCATGCTCCCACTGACCCTGGAGGCGCATCCTTGGTCTTACAGCTGGG CAGGTCTCACCTTTGCTTCCAGGCCCTGTATGCCTGTGCTTCCAGGAGCC AGAGAGATGTCCAGGTAAACTTCCTGGCCACCTCCAGGCCCTGGCTGCCC GGGAGAGGCAAAGCAGTGGCAGAGCACAGTCATCAGAGCACCACGTCATC CTCACCTACAACTCAGGACACCCAGAGCCACAGTCATCAGAGCACCACGT CATCCTCACCTACAACTCAGGACACCCAGAGCCGTCCAGGAAAGACCCAG GCCCTGCCTGGGGTGAACGAGTGCTTCTTAAAGCACCTAAGCTTCACTAG AGAACCTGCTAGGCAAAATTTCAGGTCCCACCCAGACCCACTGAATCAGA AACCCTGGGAGTAAGTCCCTGCAGCACTCCGTGTGGTAAAAGCCCTCCGG GTGATTCCGATGCCTGCTAGAGTTTGAGAACCTCTGTTCCAGACCAAAGT TGCATTTGCATATTTCTCCTTTGTTTTACTGGCTATCCAGCAGCCACTGC CTTTAAAGAAATCCCCCACTGATGTCCTTGACAATGAAGGCCTAAGGGGG ACACCCCTCTTAGTCAATGAGTACATGACTCCAGTTCAGCGTTTCCCCAG CTTGGAGTGAAAGGAGGTTAGATTCCAATGCTGGAAGCCCAGGCCCCAGA TCTCCAGCCAGATCAAAGACTTGCTTTCGAACCCTTGACTCAGGGTCTGG TTTTCAGAACCCAAACCACCATAAGCAGCCATGGCCAACTACTTCCCAGC TGCATCTAGTCCAGAGCACTTTTCCTGGAAGGCCCAGTCCAAGGGCCACT TCCTCCAGGAAGCTTTCTGTGATTCCCCTCATCAGAACTAACTGCTTCTT CCCTTGAGTTACTTCTTTCTTTCTGCTCTACACAGAACAGAATAGCCAGT CGTGCCAGACAGTGCCTGTCTCCCTGGCAGTGTGATAACATTTGGGGCCG TGTTCACCGTGATCCCTATGAGTACCAAACACCTGCCCCACAAGGAGGAG GCATTCCCATCTCTGATAAATTGGCTTTGCAAAGGATTACCCCTGACCCA AAAGTCTGGGCCAGGAATGAAGGATCAGAGGTCACAGGGCGTCAGTGGCA GCCCCCACTTCCCTGATGGCTCACCCCACCTTCCCCTGTCAACCAGAAGA AGCACTTTCAAGGAATCTTCCCTGGGATATGAGAGAAGCCCTCCAGCAAT TTCTCCTGCCGATAAGCCTGGAGACCTCTCCATTTAATAAGAAATCTTCT GCTATTTCAATCTTCATGGAATTTAAGGCTGGCTTTATAAGTGCTGCCCA AGAATGTCTCTTCTCCTCCTTAAAACCTCCCCAGTTTTCCAAGATGAGAA ATAAAAGGCTACTGAGAAATTAGGTCAGGATGAATGGGGAGGAAAAAAGT ACTGATTGCCTGAAACGAGTGTGCAGTCCCCAGGCAGATCCACCAGGTAG GGTCGGGGGCAGGTCACAACAACAGGCGCAGGAAGCGGGGGAGGGCCTCG GGGAAGCTGTGTGTGCTTAGCTGATGAAAACTGCCCGAGGAGGCCTTGGC ACAAAGACCTGCTGCCTTTAAGGCTGTTGGCAAAGGTGTGGCGAGTTGTG AGTAGGGCCAGGCTGGAGATCCGAGACCCGACAGACCGCCTGAGAGAACG CTGTCTACACGCCCCAGGCTTCAGCCTCCAATTTCTTCTCATGCTGAATA CAACCTGCCATTGTTTTCCCAGCCGTTTCCATTTAGGGAGATGTAAATGG AAAAGTGGAAGTGATGTTTTTATTATAAGGATCTTGCTCTTGCCTTTTCT CAGGTTCCTAAGATCACCATGTGACCTTACCAGCGGCCCCTCCTGCCAGG GCGGTGTGTGCTTGCAAAGACTTCTGCCTCTCATCAGGTGTGGCTGAGCC AGCAGGAACTCCCTGGCAGGTGCTAGAGTGCTCCCAGCCAGGGCCAGCCC CACCAGGCACTCCACCCCGAGGGACTGGTACAAGCCTGGTACAGACATTC TGGTTCCCTTCTCAGGGATGAGGTTGGGCCAGCCCATCTCAAACTGGAGG GCTATTAAGCTGTAGAAACCCTCAGCGTTTCTGATGCAGCAGGGGTGGGA GGAGGCTCAAACCTGCATCTCTAATAAGTGCCCCAGTGGTCCAGCGACCA GGCTTTGTGAGCCACTGGTTTCGGCACAAACAAGCAGCCAACTGTGGTCA ATGAAAGGAGGCCATACTGATGGACTCTGGAACAGGTTCCTTTGCTCATA AGAACCCCGCCTTCTTCTTCTGCCACTCACCGCAGATGGCTACAGAGCAC TTGAAATGTGGTGGATTTGCCTGAGAAACTAGAAATTTAAATTTCATTTT AATTCATTTAAATTTAAGTAGCCACCTGTGTTTAGTGGCGCCCATACTGG ACACTGCAGACCTGGACACTGTCAGGTCTGGATGTGATGGCTGGAGCTGC TGCTACAGACACCCCGCCATGAGACTGTGTGAAGACACCACACAGAGGAG GGCAGAGCTGCATCCCCATGTACTGGCTGACCTCAGCACAGCCTCATATG GGAGCTCATACATTTCCTGATTGGTTAAGGTGGTATGAGTGGGTGTTCCC TGCTGCCTGCACCCAAAGGACAATGGCAATCTCAAGCAGAAGAGCAAGAG AAGCAAAACTCGGTTCCCTGTGAACTCAAGAGGC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0022 a0001c0057t0022	a0001c0057t0022g0111 a0001c0057t0022g0111	1	331	0.0030	-2833	c.373 others(17): Show c.373+2198_373+5030del		DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	2/31						chr10	TogoVar
SESN3_chr11_95160513_95236202	95207145	AAGTTTAA others(2826): Show AAGTTTAAAACACTTACTTCCAAATCAAAGAAATCAACCAACCAATCAGT ATGTACCAATTAAATTCATTGTTAAGCAGCTTATGTAATAGCTCTTTTAA GAACAGAAAGTACAAAAACTGCCTAAAGGGGTTTACAAACTACTTGGTAA AATTAGATATAGACACCCAAAGAGTAATAAACAAAGTAATATATACCTGA ATGCTAGAGGTAAGGTGATACGATGAAAAAGGTACTAAAACCTGAGTTAT TTTCCCTTCTTAGCACTGAAAGGATCAGAGCTTTGATCATTTTTCAAGGA ATTAATTTTCACATTTAAAAAATGAGAGACATTCCGTGGGGCCTTTTTGC ATTAACATTCTATGGTTATACAGAATGCTGTGAAAGATTCTAAATGCTGG TAGAAAGTTTTCAGAAAGAAAATAAGCTAAATGCTTTAAAATTACTTTCC CATTATTTTGCTAGTTTAAAAAATGTTTTATTTTAAAAATAATTTTACTT AACCTATTAATAAACTGATACGTTCTGGATTTTTGGTAAAATGTTATAAA ACCAAGATTAGAAAAAGGTCTATTGTAGATATATATCATATAATATCATA TAATTTACATAATTTAATAGCAGAAGAACTGTAATTTTAAATATGTCTAA AATTCTCTTCAATGTTCTATACTATATGTTTTTTTTGTTTTGTTTTGTTT TGTTTTTTTTGTAGAGACTGGGTTTCATCATGTTGCCCAGGCTGGTCTCG AACTCAAGAGTTCAAGTGATCCACCTGCCTGGGCCTCCCACAGTGCTGGG ATTATAGGCGTGAGCCACCACACCCAGCTAATTTATGTTCTTCATAAATG ATCCAGTGAACAAAGCATACCATACTCTAAAAAAAAGAAATAATAATAAT CTATTTATTGTCAGGATTATGGTATTCAATGATTTTCTTCTTTCCTTAGT TTTTTAAAAAAAATGAATCAAGGGATTATTTTAAGGTATTTTATGTAAAT GGTGAGAGTAGTCTTTTAAATAATCTTTATATGAATAACCTTTATAATCT AGTAGTATGAATAACTTTTGAAAGTCCTCCAAAATAATGTATGGACTTGT CCTCACATATTTTTATTTTAGAAATATATTAAATAATTTTAGCTCCAGCA CGAAGTATTACTGGTCCTGTATATATTAGTGAGGTTTAACTTTATGTAAC TGTTTTGTAGAGAGTTCATATAATCATGACAGGACTTCAAATACAGCTGT TCCTTCCCAAGAATGTAATCTCCAAAAAATACATTTTTTTCTAAAAGAAG AGCTGCATGATCATCAGTGTGCGAAATGTGTTTATAACTATCAGAGCATA TGGGTTGGCTGGTAGGTAGTAATTCCTCACTTAAATGGCTACCATTGACT TTCTTCACAGAATTGAAAGAAACTACTTTAAATTTCATATGGAACCAAAA AAAGCCCATATAGCCAAGATGATCCTAAGCAAAAAGAGCAAAGCTGGAGG CATCATGCTACCTGGCTTCAAACTATACTACAAGGCTACAGTAACAAAAA CAGCATGGCACTGGTACTAAAACAGATATATAGACCAATGGAACAGAACA GAGGCCTCAGAAATAACGCCACACATCTACAACCATCTGATCTTTGACAA ACCTGACAAAAACAAGCAATGAGGAAAGGATTCCCTATTTAATAAATGGC GTTGGGAAAACTGGCTAGCCATATGCAGAAAACTGAAACTGGACCCCTTC CTGATACCTTAAACAAAAATTAATTCAAGGTAGATTAAGGACTTAAACAT AAGACCTAAAACCATAAAAACCCTAGAAGAAAAGCTAGGCAATACCATTC AGGACACAGGCATGGGCAAAGACTTCATGACTAAAACACCAAAAGCAATG GCAACAAAAGCCAAAATAGACAAATGGGATCTAATTAAACTAAAGAGCTT CTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAATCTACAGAAT GGGAGAAAATTTTTGCAATCTATCCATCTGACAAAGGGCTAATATCCAGA ATCTACAAGGAACTTAAACAAATGTACAAGAAAAAAACAACCTCAACAAA AAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGT GGTCAACAAACATATGAAAAAAAAGCTCATCATCACTGGTCATTATAGAA ATGCAAATCAAAAACACATGATTAAATCATGATCATTAAAAAGTCAGGAA ACAACAGATGCTGGAAAGGATGTGGAGAAAATAGGAATGCTTTTACACTG TTGGTGGGAGTGTAAATTAGTTCATCTATTGTGGAAGACCGTGTGGCGAT TCCTCAAGGATCTAGAACCAGAAATACCATTTGACCCAGCAATCCCATTA GTGGGTATATACTCAAAGGATTATAAATCATTCTACTCTAAAGACATATG CACATGTATGTTTACTGCAGCACTATTCACAATAGCAAAGACTTGGAACC AACCCAAATGCCTATCAATGATAGACTGGATAAAGAAAATGTGGCACATA TACACTATGGAATACTATGCAGCCATAAAAAAGGATGTTTGGCCAGGCGT GGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGA TCTCCTGAGGTTAGAAGTTTGAGACCAGCCTGGCTAACATGGCGAAACCC CGTCTCTACTAAAAATACAAAAATCAGCCGGGTGTGGTGGTGTGCACCTG TAGTCCCAGCTACTCTGGAGGCTGAGGCAGAAGAATCGCTTGATTCCAGG AGGCGAAGGTTGCAGTGAGCCAAGAACACGCCAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03491.hp2 HG03492.hp2 others(1): Show HG01261.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0065 a0001c0001t0030 a0001c0001t0065	a0001c0001t0030g0248 a0001c0001t0030g0296 a0001c0001t0030g0297 others(1): Show a0001c0001t0030g0248 a0001c0001t0030g0296 a0001c0001t0030g0297 a0001c0001t0065g0298	4	392	0.0102	-2833	c.79- others(17): Show c.79-16456_79-13624del		SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	1/9						chr11	TogoVar
OR6M1_chr11_123800408_123811349	123808260	CTGGGCTG others(2824): Show CTGGGCTGCACATTTAAAAGGTCCATTAAAGTCTTAGGGTCCTACTATCA GTACTTTTTGACTCCCTGACCCACCCCAAAGATTGTAACTTCTTTTATTC TCCAGTAAATAAACTCCTAAATTATTTGCTAAGTTACTGCATAAAAGTGG CTAATCATGAATACATATACTAATATAATAGCATGGGAAATTACATATGA ACTTTCTATACAAGGCATTTTGTTACCTGTTTTTTGTGTGTCTTGTATTA TTATTTCCATGGGGTTTTTCAGCAGGCAAATTATATTTTACAATTTTTTT CGGTTTTCAATAAAAATAGATCTTTATTGAGTTTTTAGTAGTTGCCAGAC ATGATCGAAAGCAGTTTACTCTTTTAATTTTCATTATAACCTATGAGATA AGCACTACCTTTATTCTTATTTTTTTATTTTACTTTAAGTATATTTTACA TTTTAAGACTCAAGTATTAATTAGATTAATGTGAGATAGTTTGAAGAATT GGGTTCCAATCCTGGTTTTTACCACTTGCAGCTCTTTTTTATTGAATTAA ATTCGTCACCTCTGAGTCATAGCTTCTTTATCAGAGAAATAAAGATAATT CTAATGTTCAAAATGACCTGCCATGAGGTTTAAATTAAATCATATATGTG ACAATACCTAATAGATTCTTGCTAAAAAATTGATTCTTTTAAGAAAGGAG ATGAACAATTAACACTAATTGTTTCTTATCTGAATTAATAACAATAAGTC ATGAAAAGATTAATTTTTAACTGAGGAATATTTCTAATGCATACTTAACC TGAATCATTCCAGATTGGCTTCTGACTCCATTCATTAAGAATATTGAAAG ATTAGAGCGACTATACACAGAAAAGTAAATTTAACAAAAGTTATATCATA TTAGTAAATAAACATATGCAAAAAAGTATACTTACATTGCATCAATTATA TAATGTAAACTTTTCCTGTTTTGTATGTGAGACATAGGTAGAGGCTCAAA CTTTATCATATATAAATGTATGAATTAATTCATAGCATTGTATTTTGTAC TTTGAATTTATTATTATTTTTGCTAATTCTATTTCTAACTCATAGAAATA TCTCTCAAAGATGAAATAACCCTTACTAGGCCACTGACCATCCAACCCCA TAATGAATCCTTCTCATTAGCACTCTCACCGCATATGCATCCAGCCATTG CTTGGATGACTTCAGTGATTAGTAAATTACTATCTTGCTTTACCACTGGC TGGATGAAAAACTCTTATCTTGAGTGGAAAACTCTGTTATGTAACTTCCA AATACATGTTCACGTACTGATTTTATGGATCAAATACTAACCTTTTCACC ATGACAGCCCTTCAAACACCTTTATGTTCTAGATATCCTCCTTGCCCTAC ATTCCAGTGAATTCAGCACAACACAAATTCTAGAGTCTGTTTTTGCAGAT AAAGAAGGTAATACCTGTGGTAAGTAAGTGGCCTTAAAAACTTAGAGTAG ATAGATCTTCCTCAACTTCCATTTATGGAGGCTGAAGCAGGAGGATTGCT TGAGGCCAGGAGTTTGATATCAGCCTGGGCAGTATAGCAAGACCCCATCT CTACCAATATTTTGAAAAAACTAGCCAGGTATGGTGGTGAGCATCTGTGG TCCTAGTTACTCTGGAGATGGAGGTGGCAGGATTGCTTGAGCCCAGCAGT TCCAGGTTGCAGTGAGCTATGACCATGGCGTTGCACTCCAGCTTGGGCAA CAGAGCGAGACCTTGTCTCTAAAATCAATCGATTAATCAATCAAAAACTA TTAAGTCTTAATTCTCAGGTATTTTCCCCATTCAGAGTGACTATATTTTG TCTTTTTGCTTAATTTTCAATTATTTCAATTATTCAGTAACTGAGTTTTT TGAATATAGAATTTCATACAAGCAACTCATCTAGATGTGGCTAAATGGAT TTCTTCTTAAGCATACTTACCAAGGGATGGCTCAGTGAAGGGAACTCAGT AAAGTTTTTGGTGTTTCATTTTACCTTCATGACTATTAGACTATCCTTCC ATTGAAGCTTTTACTCAATGATCTTGAATGTTATAAATGTTTCACCAGAT TAAAGGTGACTTTAATTTTTTTTAACTACTTCTTTCCTTTTCTCAATAGA GTAAAGCTTCCCTTCCTTTCTTCTGTCAGTTTTTGTTAAGTAAGTGGATG AATTATGTTTTTTTCATGGGTTTATTTGCCTTAGAGATTTAGATGAGAAC AGCTCTTGGGGATATGGGTCAAAAGAAGTTAATTAATATTGTTATAAAAG AATGTTGGTTCTGAACTTCCTAATCAGAAAGTTTTAGACTGTCTACAAGT AGAGCAGTTAGGGATTCCTTGGGGATTTTCCCAGACATTTTGCTTCTTCC ATTTAAAGAGAAAAGAATACCTTAAAAATAATCTATAAGGAAGCTAAAAG CATGGAACACTTTTCATCCTTCTTAAGTTTATTGATATAATCAGAAATAT TCTACAACAGTAAATATTCTAGAGTTTCAGATACTATGTACTACCTCTCT CTGTCTACGTTAGCATAATTTTTTAAAAAGTTCCAGTTGAAAATAGGGTC ATAGTAAATTCCACAATGTTTTTCCTCCCTGTCCTTTCCCTGTTGAAAAA GATGAGCCGTTGTGTAATAATCACATCGTGCCATTATCAAAACACCTCAT GTACCCCATAAATATATACACCTACTATGTACCCACGAAAATTAAAAATA GAAAAATTGTAAAAAGATGGGCTCTTGTACAGAAGTCAGCCTTGTACAAC TCTGTTCTTCCATGCTCTTGACCTATCTCTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0000 a0006c0011t0000	a0006c0011t0000g0000 a0006c0011t0000g0000	1	472	0.0021	-2831	c.-47 others(11): Show c.-4742_-1912del		OR6M1	ENSG00000196099.5	transcript	ENST00000309154.3	protein_coding					1912		chr11	TogoVar
LTBP1_chr2_32941953_33404509	32999395	AGACATGG others(2823): Show AGACATGGTGTGTGGAGACCCCGGTCTAAGAGTTGGTGCCTAGATTGGAG CCCAATTTTCACACCTAAAGGATAAGACTGTGAAAAGGGGTCAGGACTCC CAACACTGCTTTCTCCTTCCTCCTCTCTGCTCTTCCACCATCCCAGAATG TGACCCCACACCCAGGCTCCAGGAGGGAAGGCTCAAGTCTCCCTGCCTCA AAAAGATCCAGAGGCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCA GCCTGGCCAATGTGGTGAAACCTGGTCTCTACTAAAAATACACAAATTAG CTGGGCATGGTGGCGCCAAGATCACACCACTGCACTCTAGCCTGGGCGAC AGAGTGAGACTCTGTCTAAAAAAAAAAGATCCAGAGGGAAAAGTTCTCTT TATATTTTCAGGGTTGTGTGTGTGTGAGAGATCGAGGGAGGCACAGACAA CAGCGTTGTGTGTGTTGGAGGGATGGAATGTGGTATCTGGCACCAGGCCA CAGTGCTTCTCACACCTGATGTATGTAAGAGTCAGTCACCTTCACAATGC AGATTCCTGGGCTCTACTCCAGAGAGCCAGTATCAGTAGGGCTTGGGAAG GACCCAGGAATTTGCATTGTTAACAAGTTCTCCCAAATTCTTCTTATGTG AAAGTCTAGGGTCCTGCTCTGAGACAAACACTACTCAAAGGCTGTGATCT GGCTGATTCTCAGAATTACTTGGAGAAACTAAAAAGTACAGGGCTCCAGG CCTTGCCCCAGCTCCTCTAATTCAGTAGGACTGGCGAGGCCCAGGAATCA GAATGTTGTAGTGTAAACATATCTGAAAGCAATAACTTAAGCCTACCCTT AGAATGACCCTATATGGCAGATGCACCTGAATGTGTATACCGAGCTACGG AATCCAGGATTCATTCCTTGTCTGTGAGGGACATCTGAGCCCCACGCTCA TCCTGTGGAGCATGAGCCGTGCATGGGATTGAGACCTTTGGTTTTGGGTT AAATGGAGGTTGCCAGGTGGAGGTGGAAGTTGTTGGGGGAAGGGTGCTAA GTGAAAATGCTATGTAAACTGCATGCTGTTTGCAAGTGGTCGCAGGTTTC CTGCCCAGCACACTGCCACTGGGCCTCCAGCCTCTCCCACTGGACTGTGT GTAAGGCGGTCTCCTGTGCAGCCCGCCGCCACTGGACTGTCTCCTGTCTG TAAGCGCCCAATAAAACCTCATGCCTCATTTGCTGCCTCCAGATCTCTTC TTGCCATTTCTGTTGAGGTTAATAGGGGTTCAGTATAATGCATGTTTAAT AAGTACTCTGGGTTTTTCAAACTGTGTTCTCAGAAACCCTTAGGATTCCC CCAAAGTATATTGGAGGCTACCAAGGGGGAGAGGTAAGAGGAGAACCAAG GTTGTTGACAGGAGGGGGGGTTCAAACACTCAACCCGCTTCATCTGCTTC ATGTATTAAGCTTCAGTGTACAATTGCATTTGAAAAGAGGATTTTTTTTC CAAATTTTGAAAACAAGTCATAGCTGTTCATTGATAAGGGCCTCTTTAAA GTTGGCAGTGTTCTCCTTTTGAGCCACAGTTCAGGACAGCCTCTCGCCCT TGTGACCACCTGTCCTTCCTGACACGCTGACCTTTAGTCCCTGAGCTGCC TCATACCTGGCCCATGATGCTAACTATCCACAATGACCCTGACTCCATTC ACATTGTGGGATTGCCTGGCTCTGCCATTTGCCCCAATTACCAAATTCCT TTACTACTGAAAGAATGCTGGTCACACCAGAAATATGCTTTGTACAAATC ATAGTACCTCAAGACAGTGAGTCTCAAATATGGCTGTGGCTTTCAAATAT TTTTCTGCACGAGAATCATCTGGAGAGCTTGTTAAAGCACAGATTGCTCA GCCCCAAACCCAGAGTTTCTGATTCCATGGGTCTGAGGTGGGACGTGAGA ACTTGCATTTCTCGAAAGATTCCAGGTGGGACTGATGCTGCTGGTCTGGT GACCACACCTAGAACAACTGCCTTAAGATTAAATAATGTTGGATACAGCT TGGGTCCAATTCTCCTGTTAGGTGTTTTCTCACTGAGTAGTTCCTCCTTT GGTGTTAAAATATATGAGGAGAAGAAGTGCTGGAATGAAGAAATCAGTGT CAGTTGGGATTATGGCTCAGTCCTGCTCTGCACTAATTAGGTTTTGCTGG ACTCTCCTGCCCAGCTAACAGCCATTTATGATATTGTTTCTGCAGGACAG TGCATTGCATAGTATGGTCCCCGTGCTGCTCATCGTATAGGCCCTGCCAG AATGGTTGGCAATGACAAGGATCTGACAGTAGCTTCTTATTGCCAGGGCT TGATTAGAATGTGACAAGTCATTGCTGAACATTGGTTACCATAAAGGCAA ATATTTTGTCTTCCCTGAAACAAATAGTAAGAGGAGAAAGTGTCCTGTTG TAGAAACTCCCATCTTTGTAGAGATTTCCATCCTTTCAGTCTTAGACGCT TGCAGAAAGCTGGCATGGTGGCAAGGCAGAGGTGTCCTGTCAGTGGCCAA GCAAACAGCAAACACATGCTCATGGTCACTGCTGTCTAGGTCAGAGGCCT TCAAAGCTTTGATCAAATACAACACCAGTCACTGTTGGGAAATCCTCCTG GACATGTCCCCTCATTTGTTGAAATGTTTTGACCAGGCAAATGACTATAA TTATTGTTATATTAAAAAAATAGCCTTTGAGTTTTTTAACCTCTGTAATG GTTCAGCTCTGTGGTGGAAAATATTTAACTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(54): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp1 HG01884.hp1 HG01928.hp2 HG01978.hp1 HG02257.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03491.hp2 HG03516.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp2 NA18953.hp1 NA18955.hp1 NA18964.hp1 NA18979.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0022 a0001c0026 a0001c0027 a0001c0035 a0001c0038 a0001c0046 a0001c0054 a0002c0019 a0002c0030 a0002c0034 a0003c0028 a0006c0036 a0007c0042	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(44): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0037 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0016 a0001c0003t0023 a0001c0003t0036 a0001c0004t0018 a0001c0004t0041 a0001c0005t0020 a0001c0006t0001 a0001c0006t0009 a0001c0007t0005 a0001c0007t0017 a0001c0010t0001 a0001c0010t0018 a0001c0012t0003 a0001c0013t0022 a0001c0015t0001 a0001c0017t0012 a0001c0018t0001 a0001c0022t0043 a0001c0026t0002 a0001c0027t0039 a0001c0035t0007 a0001c0038t0003 a0001c0046t0001 a0001c0054t0001 a0002c0019t0009 a0002c0019t0017 a0002c0030t0005 a0002c0034t0005 a0003c0028t0038 a0006c0036t0002 a0007c0042t0003	a0001c0001t0001g0060 a0001c0001t0003g0127 a0001c0001t0003g0129 others(54): Show a0001c0001t0001g0060 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0005g0142 a0001c0001t0006g0115 a0001c0001t0006g0134 a0001c0001t0007g0122 a0001c0001t0009g0050 a0001c0001t0011g0154 a0001c0001t0016g0047 a0001c0001t0037g0072 a0001c0002t0001g0059 a0001c0002t0005g0135 a0001c0002t0006g0152 a0001c0002t0009g0045 a0001c0002t0009g0046 a0001c0003t0003g0145 a0001c0003t0005g0146 a0001c0003t0005g0153 a0001c0003t0006g0123 a0001c0003t0006g0131 a0001c0003t0016g0053 a0001c0003t0016g0054 a0001c0003t0023g0044 a0001c0003t0036g0049 a0001c0004t0018g0138 a0001c0004t0041g0133 a0001c0005t0020g0020 a0001c0006t0001g0155 a0001c0006t0009g0048 a0001c0007t0005g0136 a0001c0007t0017g0043 a0001c0010t0001g0005 a0001c0010t0018g0140 a0001c0012t0003g0128 a0001c0013t0022g0074 a0001c0015t0001g0021 a0001c0017t0012g0114 a0001c0018t0001g0058 a0001c0022t0043g0144 a0001c0026t0002g0016 a0001c0027t0039g0038 a0001c0035t0007g0156 a0001c0038t0003g0148 a0001c0046t0001g0004 a0001c0054t0001g0003 a0002c0019t0009g0073 a0002c0019t0017g0070 a0002c0030t0005g0151 a0002c0034t0005g0149 a0003c0028t0038g0036 a0006c0036t0002g0118 a0007c0042t0003g0143	57	164	0.3476	-2830	c.566 others(19): Show c.566-21513_566-18684del		LTBP1	ENSG00000049323.16	transcript	ENST00000404816.7	protein_coding	2/33						chr2	TogoVar
PRKCZ_chr1_2045411_2190395	2093115	GTGAGGAC others(2823): Show GTGAGGACAGAGCTGCAGCTTTAGCCCTGAGAGACCTGGCGGGAGAGGAG GCAGATGGCGAGGGCCCCACCGGCAGAGCTGCTGCCCTGAAAAGCACCTC CTCCTGGTGGACACCAGGTGCATGGTGTGGTCAGGTGTGGAGTGTGGGCC CGCTGGCCTCGCTGCTTCCTGCGCCCTGTTTACCACCCCTCACCCCCTGG CCCCAGCCTTGCTCTTGGCGGGCGGCTAGTGTCCTCTGGCCGCCCTGGGG CAGGTCAGACCGCCGGGGTGTGGAGTGGGGTGCTTGCCTTTTTCTGCCTG ACCCTGCTTCGTGCGGGGACTCTGGGACGCTGTGACTTGGCTCTGGCCTG GTCCAGCCCCCAGTGTCCACTTCTCTGGAAGGCGAAAGGCAGGGTGGGGG TCTCCTTGATGTGGGACTGGAAGCTGCTCAGCCAGTCTCCCTGGAAAAGG TCCTGGTGACAGTCACTGCTCGCTGCAGTGGCTGGTGCCCTCCTCAAAGG TGAGGGTGTCCGGGTGGCTGTTGGTGCGGGGCCGCTGGGACCTGTACCCT CTAAGTTGGGACTTCAGCCCCGCCTCTGCCCCCAAACGTGGTGGGCTGAG ATGGGGGAGGCCCTTGGAAGGGCCCAGAGGAACCCCAGGGCCTCACAGAG GACGTGCTGTGTACGGTGCCTCCTCCCTGCGGCCTGCCCCGCCTGTGCTT GGAGCTGCATCGGGCACAGCCTGCCTTGGCGGGCACGGGACGAGCCGAGG ATCCCCGCGTCGACGTGGAGGTCCGCGGCCGTCAGCGTTGCAGCCCTTGG CCGGGCACTAAGGGCTGAGTGTGGGGCCAGGGCAGAGGGAGCCAGGCCAG CAGCTCCAGGCCCGGGTGGAGGAAGTGCTGCCTGACACGTGTGTCTGCTC CCTGCGGCACGTCCACAGCACCTGCCAGCCCACTTTGGGTGACCCTCCTG TTTGTCCTGTCCTAGCGCAGCCACATCCCTTGGGAGCCTGCTTGTCTCTA GAACCTTCTGCCTGATGCACAACCTCAGAGCCCTCCGTCGCCATCCCTCC CCCGTCCCGGGAGCAGCCCCCCCACTTCCACCTGTCTTGGACGGGAGCTG GAAGGGACGTGGTTCCAGTCCTGCTGTGCCAAGCCTGGTGACCCGAGGGT ACCCTCGGCCTCCCGGCCTGAACTCTTCTCCTACCATGATGGTGCCTGGG ATGCTGTGTGGTGCCCGTGGGCAGTGGCGGAGGCAGTGGCCCCGGCTCGT TGAACCTTGGGCACTGCCCATTCTGAGGCGCCCGCTGTGCCCGGCTCGTT GAACCTTGGGCGCTGCCCGTTCTGAGGCACCCGCTGTGCCCGGCTCGTTG AACCTTGGGCGCTGCCCGTTCTGAGGCGCCCTCTGTGCCCGGCTCGTTGA ACCTTGGGCGCTGCCCGTTCTGAGGCGCCCTCTGTGCCCGGCTCGATGAA CCTTGGGCGCTGCCCGTTCTGAGGCGCCCGCTGTGCCCGGCTCGATGAAC CTTGGGCGCTGCCCGTTCTGAGGCGCCCGCTGTGCCCGGCTCGTTGAACC TTGGGCGCTGCCCGTTCTGAGGCGCCCGCTGTGCCCGGCTCGTTGAACCT TGGGCGCTGCCCGTTCTGAGGCGCCCGCTGTGCCCGGCTCGTTGAACCTT GGGCGCTGCCCGTTCTGAGGCGTCTGCTGTGGCCCTTACCGTCTGGCTTC TCTGCTGGCTCTTTTGGCCTTGGATTCATTTCTGGAGCTGCAGAGTCACT TCTCTTAGAGCCTGGTTTTGGCCCTCTCTCTCCTGCCTATAAAAAGCCCT GCCCTGGGTTCCCTGCTCCATGCCAGTTCTCTCCCTGCCCCCGCCGGCAT GACACGGACACTGGTGCCCGAGTGATGCCTGTGGGTGATGCAGACACTGA CTGTCACCCCAGCCCCCCATGTGCTGCTCCGCCACACCCCAGGCCCCGTA GCAGGGTGGTGGTTTGGGCAGCTGGGTTTGCTGGTCCCCTGGGAGTCCAA GCAACATCACCACTGGGTCCCAGATATGCCGTCTCCCTGGGGCACCTGTG CTTCTGGTACCCAGGGTGGAGTCTGGTTGTCTCCTTTCCAGACCCTTCTA GGTCTGCGTTGGCCTGGCTGGTTTCCCTGAGGTTCCCTCTGTAGGGGAGG GCCTGCCCTCCTGGCAGGGGCCCTTGTGTGCGTCCTGAGCTCACCATGGT TTTGGAGGTGGCTGGGCAGTGGCGGGCAGAGCCCCATGCTGTCCTCTGCC TTTGAGGTGGGCACGGCACACGTGAGAGCTGAGCATTGGTGGAGGAGGCC ACAACCGGTGCCCAGTGGTTGAGTCGCTGGTGCCCACCGAGGGCCCAGGG AGTGAGGGACCCCCTGAAGAGGTAGCTGGGAGCCAGACCCTCCTCCCGTG GATGCCTTTTCAAGTCCCTGTCAGTTGTTCAGAGAAGAGGGGGAGGATTC GCGCTTTGCGTCAGATGCGTGCGTCCTGCATGGGTGGTGCCGGCCGGCTG TGCCCAAAGTCATGCCCTGCCCCTGTCTCCCGCAGCCTGGCATGGGCTCA CGTCCGTGTGCTTGTCCAGCCTCCACTCGCCACAGCTCCCCTCCCCTCCC CTCCTTTTCCCTCCCCACCTTTCCGCTCCCCTCCTCTCCCCTCCTTTCCG CTCCCCTCCTCTTCCCTCCTCTGCCCTCTGCTCCCCTCTCCTCCCTTCCC CTCCTGTCCCTTCCCCTCCCTTCTCCTCTTTTCCCCTCCCTTCCCCTCCC TTCTTTTCCTTTCCCCTCCCCTCCTTTCCCCTCCCCTCCTCTCCCCTCCT CTCCCCTCCCTTCCCCTCTCCTCCTTTCCCC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	286	0.0035	-2830	c.334 others(19): Show c.334+33526_334+36355del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT9_chr12_132191372_132334589	132232337	AGACAGCG others(2821): Show AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGT CCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCT ACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACAC TCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCCTACTGCCACACACT CCATGGGGCGACAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTACTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAG GAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGAGGA GACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGC GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTG GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAG GAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGA GACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC ATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGG AGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 NA18952.hp2 others(1): Show HG00408.hp1 HG00408.hp2 NA18952.hp2 NA19067.hp1	a0001 a0001	a0001c0011 a0001c0013 a0001c0034 a0001c0011 a0001c0013 a0001c0034	a0001c0011t0001 a0001c0013t0004 a0001c0034t0004 a0001c0011t0001 a0001c0013t0004 a0001c0034t0004	a0001c0011t0001g0057 a0001c0011t0001g0129 a0001c0013t0004g0124 others(1): Show a0001c0011t0001g0057 a0001c0011t0001g0129 a0001c0013t0004g0124 a0001c0034t0004g0158	4	183	0.0219	-2828	c.107 others(21): Show c.1077+12745_1077+15572del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
SBK3_chr19_55535656_55550543	55547717	TTGAACCC others(2819): Show TTGAACCCAGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCACCACTGCA CTCCAGCCTGGGCAACAGAGCGGGACTCCGTCTCAAAAACAAACAACAAA CAAACAAACAAATAATAACAACAAAACAAAAACAAACAAACAAAAAAGTG CTGTCATGAACACCCATTGGCTAAACTTCACAGATGTGGCCACTTGGCCA TACTTTCTTGATCTTTATTTCTTTGTCGGCGGGGGCATACAAACTAGTTT CAAGTAAATGATAAATATTGAAGTCTTTTGGAAGTGGAAATGCTGAGCTG CCTGGTGTGTTTGCTTTAAAATCATCTGGCCGGCTGGGCGCGGTGACTCA CGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAG GTCGGGAGTTCGAGACTAGCCTGAACAACATGGAGAAACCCCGTCTCTAC TAAAAATACAAAATTAGCTGGGCATGGTGGTGTATGCTTGTAATCCCAGC TACTTGGGAGGTTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGT TGCGGTGAGCCAAGATGGCACGATTGCACTCCAGCCTGGGTAACAAGAGC AAAACTCTATCTCAAAAACAAACAAACAAAAAAGTCTGGCAAAAGAAAAG AAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGGGGGGTGGTGG GTGGGTGGTGAGACAAGTGAGAGGGAAGGGACTCATTTTATTCCTCTGTT TCTGGTTATGCTGGAAATTTTCCTTCATGAAAAGCTACAAGTTATAAACT AAACTACAGGCATTGTGATGAATTGTGCCCAAACATTTGAGAGTACCTAT CTGTAAAAGTAAGGAAAATTTCTAGCTCAGCTACAGTAAAATTGTCATAA TGACTTTTTTAACAAAATTGAAGATGAGGCCAGGTGTGATGGCTCACGCT TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAAATTGCCTGAGGTCG GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACA GATACAAAAATTACCCAGTCGTGGTGGCGTGTGTCTGTAATCCCAGCTAC TCAAGAGGCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGC AGGGAGCCGAGATGGCGCCACTGCACCCCAGCCTGGGCGACAGAGCGAGA GTCTGTCTCAAAAAAATAAAATTAAATTAAATAAAAAATAAAAAATTTAA GATAGGGTCTTGCTGTGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAA GTGATCTTCCTACCTCGGTCTACCAAAGTGCTGAGAATACAGGTGTGAGC CACAGTATCCAGCCCAACAATTTCTCGAAATCAGATAATAACAAGTCTGT CTTCAGTTTCTCACATTTATTTTTTTTTAAATGCCTTGGCTGGGCGCGGT GGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCA CCTGAGGTCAAGAATTCGAGACCGGCCTGACCAACAAGGTGAAACCCCCC TCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGCAGGTGCCTGTA ATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAG GTAGAGGTTGCAGTGAGCCAAGATGGACCACTGAACTCCAGCCTGGCGGC AGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA AAAAATGCCTTATTTGCTTTATGAGTCAGGAATCAACGTCAACATCCCGT ATGACTTTCAGGGAACTTTTTACCACTGTGCCTTTTACATTATTTGAATT TTTCCTGTGAGTATGTGTTATTCAAAAAATTTTAATGAAATAATACAGTG ATGATGATACAGTAATATAGTAACACTCGGTGCTTACTTGGTGCCAGGCC CTGGTCACGCTCTCTCGGTCTCTCTCTCTTTTTCACTTAAGACTTTGTGG AGTCCTCCCAACAAGCCCTGGGTCGGTAGAATGATGGTTTCCAATTTCCT GATGGGGACAGTGAGGCATGAAGCAGCAGAGTCATGGGCCACAGAGCCGC AGCCAGGGAGAGGCAGAGCTGGGATGCCTTGAGATCTGGTGACTCCAGGC TCCTCTGTGCCCCCTGCCCACGCAGCTCCCGTGAGGCCGACCTCAGGTGC CCGGCCCGGCTCGAGCTGAGCTCCTCCACTGGAGACCCGGGGCTGGCTGT GCGCCGACAGGCAAGCGCATCTGCTACCCTAGAGCCGGCCACCTGGGTCC CCCGGGAGGAGAGTGAGAGGGGACGCTGCGGGCCTCCAGCCCTCCCCCAG ACGCTCGCTGGTGATCCGAAGAGCTTTGCACCTCCCCATTTAGTAACGCC GCTCTGCGGGGTCACCCGGAGTGACCTCGGCACGCAGGTGTGGTGGGGGA GGTTGCAGTCCTGCAGCCCCAGGGTACACACACACCCCTCATTAAAGCTG GGCGGTGTGCCTCTCTCCTCCCCTCCGTCCTGCCCACCAGCCTCCGAGGC CTCCTTTTGTGACCGTTTCCTGGCTTTGTCCCCTCCTGGCCGAACGAGGG CACACAAGTTAAGTGTGTTAACAACAACAGCAATAATAATAGTGTCCAAC ACTCATACTGTACTCGGTGCTGTGGCTTGTGTTTTCATCTATTATTGTCA TTGTTGCGAAGAGTTTTTGCAGGGATGGGGTCTCACTATGCGGCCTCTAC CCTCTCACTATGTTGGAATTCGAGGCTGGTCTTGAATTCCCGGGATGCCT CTGCGCTTCAGTTTTCTCCTGTCTGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	438	0.0023	-2826	c.-50 others(11): Show c.-5000_-2175del		SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding					2175		chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1070350	GCCCCCAG others(2819): Show GCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGG TATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGT GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAG CCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTG AGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGC CCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACT GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0050 a0001c0005t0002g0050	1	118	0.0085	-2826	c.224 others(18): Show c.2241+457_2241+3282del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
STK17A_chr7_43578108_43632379	43589652	GTCATCCA others(2819): Show GTCATCCATGACTTTCACCTTTCCTTTCTCCTCTCATCTCTGCGTACAAC TCACACCTGCCAGGGAGTGCTAATAAATCTTGACTTTGAGTGTCTTTTAA ACATATTCTCTCTTCCCAGTCCCTACGCTGGTACTTGAGTGCAGACCTAC TGCTTTGAATTATTTTATTGGCCTCTCTGTTTCTAGTTATCACTGGCAAT CCACTCTTCACAACACTATTAGAATTACCTGTTTTGTTTTATTTTATTTT ATAATTTTATTTTAATTTTATTTAATTTTAATTTTAATTTTATTTTATTT TATTTTATTTTATTTTATTTGAGACAGGGTCTCATTCTGTTGCCCAGGCT AGAGTACAGTGGCATGATCTCGGCAGCCTAGATGTCCCAGGCTCAACTGA TCCTCCCATCCCAGCATCTCAAGTGCCAGGACCACAGGTGCACACAACCA CGCCTGTCTAATTTTTGTATTTTTTGTAGTGACAAGATTTCGCCACGTTG CCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAATCCGCCTACCTCAGCC TCCGAAAGTGCTGGTATTACAGGCATGAGCCACCGTGCCCAACCAGAATT ATCTTTTCTAAACAATTATTTTCAGTATTCTAATAGGTTCCAGTTTTAAG CCTGATGAAGCCCAAACTCCTTAGCAAACATACCTACCTAAAGATACTCA CCCTGTCTCCCTAAGCAGTGTTTTTAGGCACTGATAATGCAAAGGACTTA GGGAGCTCGGACTGGTGGGTCTCAATCAAATGTCACCTCCTCTTGTTATA ATTGTTTATGTATCTTACCTTTCCCACCTCTCTGGAATATGTTTTCAGTG AGTAGTTCTGAAATGTATTCATTTCTGATATTCATCCCAAAATATTTAAT GAAAACCTAAGTTCTCAGTTTTGTACCTATTAGCAAAATATAGATGTTTT TGAAATGAAAAAATATACCTGAAAATTATGGCAACTGTTTATTCCAGGAA GAAGTTTGGCTTTTGAGTCAACAAAAAAAGTAGATGTGCAACAAACATCT TATGCCCTTTGGACCTCATCAGCCCCAAGAGAGCTGTATATAACCATGGC CCATAATGTCAGGGAAACATCATTTTTAAAATGTTTTGTAGAGGACTCAA TAACCTAAAGTTAAAGGTTGAGGTACAGTCACAATTTTTACCATAAAGTC ATGGTAAAATATGCATGTTGGAGCCCTTTTGAGGTATGGAATTTAGGGAA CTCTGTCAATGTAATTCTGAGCATATACACTGGGACTTTGCAGCTTGAAT GCTGAATCTCCTGTTTTCTTTATACAATGTGGCTGTGTAGAACAGCTCCA AGAAATCCGTTATTATCTTCTCTGACTCCTCCTTGAGTGGTTTGAAGGGT CCCCCTCCCATTGCACCAGTCATTTAGAGATGAAGGCATGCATGCTTCCT CAAATCATTGCGACCTGCTGTCATAATGTCAGTTTCAGTGGTATGTGGTA TTAGAATGATGGAAGAGTTTTATTCAGCATAGGATAGAGCAGGGGTCAGC AAACTACAGCCAGCCACCTATTTTTGAAAGCCTTGCAAGCTGTTTTTACA TTTTTTATGTTTTACATTTTTTAATAGTTAAAAAAATTAGAATAAGAGTA ATATTTAATAACATGAAAAGCTTATGAAATTAAATTTCAGTGTAAAAGGT TCATTGGAAGCCAAACATACCCATTCATTTACCTTTCTTGTATGGCTGCT TTTGTTCTGCAACAGTGGACTTGAGTCATTGCTGCAGAGACCCTCTGGTC CACAAAGCCAAAAATATTTACCATCTTGCTTGCCCTTCACAGAAAAACTT GCTGACCCTAGTATAGTACAGGATATGTTGGAAAGAAAAGAATAAATCTA GAACTGTGAGGAATGTTTCCAGAAAAACAAAGGTGGTGTCAGTGTAGTCA TTGATATGAAAGGAGAGCCGTGGGAACTGCATTCTAGCACCTAAAGGAAT GGGTGAGGAGCATGAGCAACAGATGAATAAGTATGGGGAAGAGGCCCCAG AATTTAGCAATGGCTGTTCTGTAACAGGGCTCCCACAGTTCACAGGTTAG CAATGTGTGTGAGTCCGTGTTTAATTTGCCCTGTTAAATTCTAACTTCTA GGTTTTGATCTTTCATTCTAGACTACTGACATAATTTTGAGTTCCAATTC TGTTTGCTGAATTAGCTGTCTTTCCATTTGGTCTTTAAAAATAGACTTTC AGGCTATGTAATAAGTAGTTTTTTACTTACTGCACAGTACTTTATTGCTT TGAATGTCAGGTGTGGCAACAGTAAACATTTGTGTGTGTGATATGTGTTT GAGGGCCGTTCTACTGAGTCATTTCTAATTTACCAGGAACATGTTTGCTG CCAATTATATGTTGAGACTTCATTTCAGACGAATTTTTTACAAATTAAAC TTTCTCTTCTCTTGAAACTTCAGACATGTAGGTATGAAAATATCAAATTA ATAACAATTGTTTTCTGTCTTAAAAGAATTCAGAGATCATTGGGAACCTT TTAAAACTTGATGGAGATGTTAGCCTAATGATTTTGTGGGATAAAATGAA AGGTATTAATTACTCTTTGAGGAATTCATTTATAGTTACTCTCTCCCATA TCTGTAGAAGTCTTTCATATTTCTGTGAACAAAAGAACTTTTATCTGAAT AAGGGTGCTGCTAGGTAGGTTGTTACCAAATTGAACAGCCATAGGGCTAT GCTTAAGGATTTGTCATTCCACATTTATATTACTAATGATAAAAACATGG AGGACATGAAAATTATATTTGCAGTTA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0221	1	392	0.0026	-2826	c.206 others(17): Show c.206+6204_207-3423del		STK17A	ENSG00000164543.7	transcript	ENST00000319357.6	protein_coding	1/6						chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44600466	GCCATGTT others(2815): Show GCCATGTTGCTAAGGCTGGTTTCAAACTCCTGGGCTCAAGCCATCCTTCG ACCTCAGCCTCCCAAGCACTGGGATTACAGATGTAAGCCATGGTGCCTGG CCAAGATCAAGTTTTTGACAGAAACCTTTTCTCTGTAAATGTTTTGCACT TTCATATTTAGGTACCTCAACTTGGGCAAGGTTGTTCAGTTAACATATAC AGATACAGACACACACGCATATGTGTCTGTGCACACAAACTGTTCCTAGG TTGTTAGATGAAATTGGTTTGTTATTCCTATAGTTTTTTGGTATCAAAAT TAATGTTTAAAATTTCTTTAGAGAGTTTTATGGTGACTTTTAGAAAATGT TTTCCCTTTCTTTTCTATCAGATGGAGATTAAAACTACTACAATTATAGT ACAATGTTGAGTAGACTCGGGAATTTATGTAAGATGTGGCTAACAATTTT GATAACTGTACATTAGAGTGTGTCAAGACAATGAGGCTTCTTTGATATTG TCTTTTCTTCTTCTAATTACCAGGTTTCTGTCATATCCTAAATTTAGGGA GGGAATAATATTCATCTCCAAATTAAGTATAACATCTAGCTATATTTTGA TACTTTTTAGTTGATACATATAATATAACCAATATCAGTTAAAAAGTACC AAAATATAGCCAGATGTTTTACTTAATATATATAAAGGTATGCCATTACT CTTTTAGAAAAAGTCATATGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGATGGGCAGATCACCTGAGGTGAGGAGTTTGAGACCAGCCT GACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGG CATGGTGGTACATGCCTCTAATTCCAGCTACTCGGGAGGCTGAGGCAGGA GAATTGCTTGAACCCTGGAGGCGGAGGTTGCGGTGAGCCAAGATTGCGCC ATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAATA ATGATAATTAATAAATAAATAATAAATAACAAAATTTTAAAAAATCATAA AATTGGAAGAAACCTAAAGAGGTCGCTAGTATAATTTATTTTCTTGGAGA TACTATGTTTCTGGTAAGAGGAAAGCTATAGCCTCTGTTCTCACATGTAG TGACTTTTGTTATCAAATAATTCCATATAGGTAAATAAACTCTTTCTTAC TATTCTCTAAATTCCATTCATTATTTTATTTTTTTCTTGCTCTAAGACAT TGAATACCTTTGTTTTTTTAAGTTATTTTTAAAACCAGAAGATTTAAACT TAATATTAAACATTTCCTCTCAATTCTCTTAATTACTTTTTAATTTTTCC TACTAAGAAGGACAGTTTGGAAAACACAAAGCTAAAAGGAAAAGTAATCA TGATTCCATGTCTAGAGGTAATAGCTTAACATATGTCCTTTGATTGTTTT TTCTCTATATCTGTACTTTTTAAGTTGTGTTTTACAAAAATGATACCATA TTGCATATGCTATATTGTAGTCTGCTTTTTAAAAATATATTTATTTATTT ATTTATTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGG TGCCATCTCAGTTCACTGCAACCTCCACCTTTCAGGCTCAAGCGATCCTC CCACCTCAGCCTCTCTAGTAGCTGGGACTACAGGTGCACACCCCCACACC TGGCTGATTTTTGTGTTTTTTGTAGAGATGGGGTTTCACCATGTTGCCCA GTCTCGAACTCCTGAGCTCTAGCTCCCAAAGTGCTGGTATTAGAAGCATG AGCCACCATGCCTGGCCCTGCTTTTAGAAAATTTATTAGCCAATTTTGAT AATAAACATTCCTCCACCTATTATTTTTAATGACTACCTAGTATTCTATA GTGTGAATGCACCATAATTTACTCAACCTGTTTTCCAACATTTTTATTAA GAGAACAACAAAAATGTTAAAATAATTTTATAGTAAACACACATATATCC ACCATTTAGATTTTACAACTAACATCTTATTATACTTGCTATTAGTCTGT TCTCACACTGCTCTAAAGAACTACCTGAGACTGGGTAATTTATGAAGAAA AGAGATTTAATTGACTCACAGTTCCACAAGCTTAACAGGAAGTATGACTG GGAGGCTTCAGGAAACTTACAATCATGGCGGAAAGTGAAGGGGAAGCAAG CACGTCTTACTACGGCAGAGCTGGAGAGAGAGAGAACAAGGGAGGAAGTG CCACACTTTAAACTATCAGATCTCATGAGAACTCCCTCACAAACATGAGA ATAGCATGAGGAAAATTCGCATCCACGATCCAGTGACCTCCCACCAGGTC CCTCCCCTGACACCTGGGGATTACAATTCGACATGAGATTTGGGTGGGGA CACAGAGACAAATCGTATCACCTGTTTTATCACATACCAGTCAAACTAGC TATCTCTCCATTATTTTTTGTGTATTGCCAAGTAAGTGGTAGTCATTAGT ATATTCCTCTCACCCAAGTATTTAAGCATCATTAACCAGAGTTCAGTATG TGCTTATGTACCCAACCTATATATACACACACACACACATATATAGATAC ACACACATATATATATGTGTTTATATATATCTTTGTTTTTTGAGACAGAG ACTTGCTTTGTCACCCAGGCTGGAGTGCAGCAGCATGATCTTGGCTCACT GCAGCCTCTGCCTCCTGGCTTCAAGCAATTCTCGTGCCTCAGCCTCCTGA GTAGCTGGGATTACGACATGTGCCACCACACCTGGCTAATATTTTGTATT TTTTTAGTAGAGACAGGGTTTCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp1 HG02486.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0002g0042 a0001c0001t0001g0105 a0001c0001t0002g0042	2	198	0.0101	-2822	c.377 others(21): Show c.377-103808_377-100987del		CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
CLIC4_chr1_24740447_24849321	24832196	TTTGATTT others(2815): Show TTTGATTTTTTATTTTTTTTATTTTTTATTTTTTTTTTCTTTTGAGCAGT AACGTTTTATTTTTTATTTTTTTATTTTTTATTTTTTTTATTTTTTATTT TTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCA TAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTC TCTGGTTTTCCTAGGCAGAGGACCCTGCTGCCTTCCGCAGTGTTTGTGTC CCTGGGTACTTAAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTG CCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCAT TTAACCCTGAGTGGACACAGCACATGTCTCAGAGAGCACAGGGTTGGGGA TAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTAC AGAACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCAG CAACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTC CACAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCA CACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCCGGCAGAAGTGCCCCTCACCTCCCAGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGATAGGGCGGCTGGCCGGGCGGGGGGCTGTTCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCC TCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGC CCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCCCCCCCG CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGG AGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCT CACTTCTCAGACGGAGCGGCCGGGCAGAGACACTCCTCACCTCCCAGACA GGGTTGCGGCCCAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGTGGG GCAGAGGTGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCT CCTCACTTCCTAGATGGGATGGCGGCGGGGAAGAGGCGCTTCTCGCTTCC TAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTTCCACACTGGGC AGCCAGGCAGAGGGGCTCCTCACATCCCAGACGATGGGTGGCCAAGCAGA GACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATC TCGGCTCTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGTAGCGAG CCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTG AACGAGACTCCATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGG ATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACC CCATCTCCACCAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGCGCGCGC CTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAG GTTGCAGTGAGCCGAGATGGCAGCAGTACCGTCCAGCTTTGGCTCGGCAT GAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGG GAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAG GGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGA GGGAGAGGGAGACGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAG AGGGCGAGCAGTAACGTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(317): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0146 a0001c0001t0001g0218 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0199 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0239 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0248 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0006g0111 a0001c0001t0006g0159 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0240 a0001c0001t0008g0127 a0001c0001t0008g0173 a0001c0001t0008g0217 a0001c0001t0008g0223 a0001c0001t0009g0265 a0001c0001t0009g0266 a0001c0001t0009g0267 a0001c0001t0010g0090 a0001c0001t0010g0169 a0001c0001t0010g0195 a0001c0001t0011g0307 a0001c0001t0011g0309 a0001c0001t0012g0197 a0001c0001t0012g0204 a0001c0001t0013g0298 a0001c0001t0014g0004 a0001c0001t0015g0110 a0001c0001t0016g0087 a0001c0001t0017g0312 a0001c0001t0018g0288 a0001c0001t0019g0113 a0001c0001t0020g0198 a0001c0001t0021g0230 a0001c0002t0001g0305	320	344	0.9302	-2822	c.415 others(17): Show c.415+5097_416-4826del		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
HRNR_chr1_152207076_152229193	152214266	CGGAGCCA others(2813): Show CGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCACCCTGAGCCAGAC CCATATGGGCTGTAGCTGGAAGACTGCCCAGAACCAGACCCATGTCGGCC ACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGTTGGCCGTGGC CCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCTGGAAGATGAA CCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGACCTAGA GCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCATGCTGAG TGTAACCAGAGGACTGCCATGAGCTAGACTCGTGGTGACCAAATCCAGAA GACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAGACCAACCGGA GCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCGGACCCAT GTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTGGCCATAG CTAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTG ACCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGTCCTGATGTAG AACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACTACCATGCTGA CTGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGACCAAAGACAGA AGAGTGACCCGAGCGAGACTCATATGGGCCACGGCTGGAAGAACGACCTG AGCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCGAACCGGACCCA TGTCGGCCGCGGCTAGGGGAATGGCCAGATCCAGACCCTTGTCGGCCGTG GCCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCGGGAAGACG AACCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGATCTA GAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAGACCCATGCTG ACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGACCAAAGCCAG AAGACTCGCCTAAGCCAGGCCCATGTTGGCCACTGCTGGAAGACCGACCG GAGCCAGACCCATGTCGGCCATAGCTGGGAGACTGCCTTGACCCAGACCC ACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCCTGTCGGCCAT AGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGAC TGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGC AGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTT GACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAGCCA GAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCACCC TGAGCCAGACCCATATGGGCCGTAGCTGGAAGACTGCCCAGAACCAGACC CATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGT TGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCT GGAAGATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTAGATGACTGTC CTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGAT CCATGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCATGGTGACC AAATCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAG ACCAACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAA CCGGACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTG TTGGCCATAGCTAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGC TGGAAGACTGACCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGT CCTGATGTAGAACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACT ACCATGCTGACTGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGAC CAAAGACAGAAGAGTGACCCGAGCGAGACTCATATGGGCCACGGCTGGAA GAACGACCTGAGCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCAA ACCGGACCCATGTCGGCCGCGGCTAGGGGACTGGCCAGATCCAGACCCTT GTCGGCCGTGGCCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAG CGGGAAGACGAACGTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTG TCCTGATCTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAG ACCCATGCTGACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGA CCAAAGCCAGAAGACTCGCCTAAGCCAGACCCATGTTGGCCACTGCTGGA AGACCGACCGGAGCCAGACCCATGTCGGCCGTAGCTGGGAGACTGCCTTG ACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCC TGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTG GCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACT GTCCTGATGTAGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTA GATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTG ACCTAAGCCAGAAGAGTGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01433.hp2 HG01884.hp1 HG02109.hp1 others(5): Show HG01433.hp2 HG01884.hp1 HG02109.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG03486.hp1 NA18906.hp1	a0004 a0006 a0012 a0004 a0006 a0012	a0004c0008 a0006c0022 a0012c0051 a0004c0008 a0006c0022 a0012c0051	a0004c0008t0004 a0006c0022t0004 a0012c0051t0004 a0004c0008t0004 a0006c0022t0004 a0012c0051t0004	a0004c0008t0004g0011 a0004c0008t0004g0175 a0006c0022t0004g0039 others(1): Show a0004c0008t0004g0011 a0004c0008t0004g0175 a0006c0022t0004g0039 a0012c0051t0004g0176	8	418	0.0191	-2820	c.454 others(9): Show c.4543_7362del	p.Ser others(15): Show p.Ser1515_Ser2454del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	7438/9629	4543/8553	1515/2850			chr1	TogoVar
HRNR_chr1_152207076_152229193	152215156	CGGGAAGA others(2813): Show CGGGAAGACGAACCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTG TCCTGATCTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAG ACCCATGCTGACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGA CCAAAGCCAGAAGACTCGCCTAAGCCAGGCCCATGTTGGCCACTGCTGGA AGACCGACCGGAGCCAGACCCATGTCGGCCATAGCTGGGAGACTGCCTTG ACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCC TGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTG GCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACT GTCCTGATGCAGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTA GATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTG ACCTAAGCCAGAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGG AAGACCACCCTGAGCCAGACCCATATGGGCCGTAGCTGGAAGACTGCCCA GAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCC AGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCT GACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTA GATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACC TGAGCCAGATCCATGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACT CATGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCA CTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGA GTGCCCGGAACCGGACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATC CAGAGCCCTGTTGGCCATAGCTAGAAGACTGACTTGAGCCAGAGCCATGC TGACCGTGGCTGGAAGACTGACCTGTGCTAGATCCCTCCTGGTCAAAGGT TGATGACTGTCCTGATGTAGAACCATGCTGTCCTTGGCTACAGAAGTGCC CTGAGCCACTACCATGCTGACTGTAAGCAGAGGAATGTCCTGAGCCAGAC TCATGTTGACCAAAGACAGAAGAGTGACCCGAGCGAGACTCATATGGGCC ACGGCTGGAAGAACGACCTGAGCCAGACCCATGTTGGCCGTGGCTGGAGG AGTGCCCCAAACCGGACCCATGTCGGCCGCGGCTAGGGGACTGGCCAGAT CCAGACCCTTGTCGGCCGTGGCCCGAAGACTGACGGGAGCCAGACCCATG CTGACCATAGCGGGAAGACGAACGTGAGCTAGATCCGTGTCGTTCACCCC TAGATGACTGTCCTGATCTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGA CCTGAGCCAGACCCATGCTGACTGTAACTAGAGGACTGCCCTGAGCTAGA CTCGTGGTGACCAAAGCCAGAAGACTCGCCTAAGCCAGACCCATGTTGGC CACTGCTGGAAGACCGACCGGAGCCAGACCCATGTCGGCCGTAGCTGGGA GACTGCCTTGACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGA TCCAGAGCCCTGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCAT GCTGACCGTGGCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAG CTCGATGACTGTCCTGATGTAGAACCATGTTGCCCATGGGTAGAGGAATG ACCTGAGCTAGATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAG ACTCTCGGTGACCTAAGCCAGAAGAGTGACTGGAGCCAGACTCATATGGG CCACGGCTGGAAGACCACCCTGAGCCAGACCCATATGGGCTGTAGCTGGA AGACTGCCCAGAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACT GGCCAGATCCAGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCA GACCCATGCTGACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTCG TTCACCCCTAGATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGG AGGAGTGACCTGAGCCAGATCCATGCTGAGTGCAACCAGAGGACTGCCAT GAGCTAGACTCGTGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCC ATGTCGGCCACTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGT AGCTGGAAGAGTGCCCAGAACCGGACCCATGTCGGCCGCGACTAGGAGAC TGGCCAGATCCAGCCCCATGTCGGCCATAGCCAGAAGACTGACTGGAGCC AGAGCCACGGTGGCCATAGCTGGAAGACTGGCCTGTGCTAGATCCCTCCT GGTCAAAGGTTGATGACTGTCCTGATGTAGAACCATGCTGTCCTTGGCTA CAGAAGTGCCCTGAGCCACTACCATGCTGACTGTAAGCAGAGGAATGTCC TGAGCCAGACTCATGTTGACCAAAGACAGAAGAGTGACCCGAGCGAGACT CATATGGGCCACGGCTGGAAGAACGACCTGAGCCAGACCCATGTTGGCCG TGGCTGGAGGAGTGCCCCAAACCGGACCCATGTCGGCCGCGGCTAGGGGA ATGGCCAGATCCAGACCCTTGTCGGCCGTGGCCCGAAGACTGACGGGAGC CAGACCCATGCTGACCATAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0191 a0001c0191	a0001c0191t0013 a0001c0191t0013	a0001c0191t0013g0191 a0001c0191t0013g0191	1	418	0.0024	-2820	c.365 others(9): Show c.3653_6472del	p.His others(15): Show p.His1218_Ser2157del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6548/9629	3653/8553	1218/2850			chr1	TogoVar
H4C11_chr6_27819092_27829480	27823802	GTCAGCCA others(2809): Show GTCAGCCACCGAGCCCGGTCACTTTTTTGTATTCCCCACAGTATTGATGT ATATCTTCTGCGTTCAAAAGCAATTTTTTAAAGCCTCATAACGTGGTAAC AGAATACTTTGCACATTACAAAATTCAGAACACGGAAACAAGAAGCTCGC TTTTTTTTCCCCCCTATTTCGGTTTGGCCCTTTAGATTTCCCCTCCCCCA CCGGGGCGGGACTTCCCGCCGACTTCTTTCAGGTTCTCAGTTCGGTCCGC CAACTGTCGTATAAAGGCGCTGCCTCAGGCCAGAGGCCTCACAAAGCGTT GGGTGAGACTCCTCTTGCTCGTCATGTCTGGCCGCGGCAAAGGCGGGAAG GGTCTTGGCAAAGGCGGCGCTAAGCGCCACCGTAAAGTACTGCGCGACAA TATCCAGGGCATCACCAAGCCGGCCATCCGGCGCCTTGCTCGCCGCGGCG GCGTGAAGCGCATCTCCGGCCTCATCTACGAGGAGACTCGCGGGGTGCTG AAGGTGTTCCTGGAGAACGTGATCCGGGACGCCGTGACCTATACAGAGCA CGCCAAGCGCAAGACGGTCACCGCCATGGATGTGGTCTACGCGCTCAAGC GCCAGGGCCGCACCCTCTACGGTTTCGGTGGTTGAGCGTCCCTTTCTATC AATAAAAGGCCCTTTTCAGGGCCACCCTACTTTCTCAGCTGAAGAGTGGT AACACTGAGGAGTGGTTTTGGTAGGTACGGAATTTTGCTTGGTTCTGAGT CAGTTCTGGGGGGAACAGTTTTTTGAACACAGCGGCACACGTGTGGCCAT TCACCCGGGGTCACTGTAGGCAGGACTAATTACGAGATGTAATGTCTAAA CTTGCTCAAAATTCGTAAGCTTGTTTACGTAATGGAGAAAATACTCGTAC ACAGAATGTGCAGTACCAGAAACGTTTATGTAACCCCCGTAGTGAGCTTG ACAGTGGTAATCGGAAATCGTTTTTGAAAAGCCTCCAAATCCACAAGTAT TTGTGGGTTTTTTTTGTTTCGTCTTTGTCTGCGAGTTGGAGTGCAGCGGC GCGATCTCGGCTCACTGCAACTTCCGCCTCCTGGGTTCAAGCGATTCTCC TGCCTCAGCCTGCCGAGTAGCTGGGATTACAGTTTTGCGCCACTACACCC AGCTAATTTTTGTATTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGAT GGTCTCGATCTCCTGACCTCGCGATCCGCCCGCCTTGGCCTCTCAAAGTG CGACCTCTTAAAGAATTTTAAGATAATTTTTTACTTTCCTCCACCCTCAT TAAGGTATGACAACTTACATGTACAATCTGATCTGACATATATTCATTGT GTAATGATTACATCGAGCTTAACATCCACCTCACTTTCTGTGGTGAGAAC ATTTAAGGCCTATCAGCAATTTTCCAGTATCAAGTACATTAACTATTATC ACCATGCTTTAAAGTAGATCTCCAGTATTTATACCTCCCGAGTCCCATTG TTACCTCCATCCTTGTTCTCTGGCAATGACAATTTTACTCAGTTCAACAT TTTTAGATTCCTCATGTAAGTGAGATCACGCAGTTTTTGTTTTTCTGTGC CTAGTTTGTTTTACTTTGCATAATGGTCTCCAGTTTCATCTATAAGAAAT GACAAGATTTATTTTAAGGCTGAGTAGTATTTCATTGTATATATGCCCCA TTTTCCTTATCCATTCATCTGGCATTGGACACTTGATTTGAGTTTAAATT CATAAATGGAATCTAGTGAGTAAAAGCTATTTTTTGTTTTCTTTTTGGTG AGGTTCAGTCACTTATTGTTATGATGATGAAAATGATGGATGTGTCATTG GTGACATCAAAAGATCTGGAAGGACAATAATAGTCGCATTGATTCAGTTG AAGCAAAAGTACAAAACTCTGTAGTCCAAGTAATTACCACAAAGGAATTG TAATCATACTTTTTTTTTAATTTGAATTTTTGTTAAGGGAAAAAAATTGT ATTTTACATGAAAAACAATTATTTATTTATTTATTTATTTATTTTATTGA TCATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATAGGACA ATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTT TTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGT ACTTGAGATTGGGGAGTGGTGATAGGCGGTGATAGGTGAGATAGGCGGTT TTTCCCCATCTCAGTAGATGGAACGTACAATCGGGTTTTATACCGAGACA TTCCATTGCCCAGGGACGGACAGGAGACAGTTGCCTTGCTCTTGTCTCAA CTGCAAGAGGCATGCCTTCCTCTTATACTAATCCTCCTCAGCACAGACCC TTTACAGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCAAGAGG CCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTGGCTT TCCTAGGCAGAGGTCCCTGTGGCCTTCTGCAGTGTTTGTGTCCCTGGGTA CTTGAGATTAGGGAGTGGTGATGACGCTTAAGGAGCATGCTGCCTTCAAG CATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCT GAGTTTGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTC ACAGATCAACAGGATCCCAAGGCAGAAGAACTTCTCTTAGTACAGAACAA AATGAAAAGTCTCCCATGTCTACCTCCTTCTACACAGACACGGCAACCAT CCGATTTCTCAATCTTT	G G	transcript_ablation transcript_ablation	HIGH	HG02148.hp1 HG02148.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	396	0.0025	-2816	c.-32 others(10): Show c.-322_*2182del	p.0? p.0?	H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding	1/1						chr6	TogoVar
EPRS1_chr1_219963600_220051505	220048133	GCCTGTAA others(2807): Show GCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACCTAAGG TCGAGAGTTTGAGACCAGCCAAGCCAACATGGAGAAACCCCATCTCTAGT AAAAATACAAAAAAATAGCTGGGTGTGGTGGTGCATGCCTGTAATCCCAG CTACTCGGGAGGCTGACGCCAGAGAATCGCTTGAACCTGGGAGGCAGAGG TTTCGGTGAGCTGACATCACGCCATTGCACTCCAGCCTGGGTAACAGGAG CAAAACTTCATCTCAATAAAAAAAAAAAAAAAAAAAAAGAAGCCTACTTT CAGGATAGTGGGACTTATAGCAGAAAGTCTTAGGTCTTAGAGTTACCATC TTGTTGGATGCTTTTACTAGTTCCAATCATTTTTTAGTTATGTTGGATTT TCTAGGTAAATATCATTTTCTTCCTATCCAAAATTTACATGACCTATATC TTATCTCTTTCATTGGCTAGAACTTCCAGAATGATGTTAAATGGGAGCAA TAATAGTGTCGAATAAGAGAGTATTTGCTTTGTTCCTGACTTTAGTGGGA ATGCCGCTAATGTTGCATTATCAAGAATAGTGTCTGTGGCCGGGCACGGT GGCTCGCACCCGTAATCCCAGCACTTGGGAGGCCGAGGTGGGTGGATCAC CTAAGTAGAGGACTTCGAGACCAGCCTGATCAACATGGTGAAACCCTGTC TCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAATC CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCATGAACCTGGGAGCTG GAGGTTGCAGTGAGCAGAGATCATGCCACTGTACTCCAGCCCGGGGCAAC AAGAGCAAAAAGTCCGTCTCAAAAAAAAAAATGTTAAAGAATAGTGTCTG TAAGCCAGGTGTAATGGCTCATACCTGTAATCCCAACACTTTGGGAGGCT GAGGTAGGCAGAACACCTGAGGTCCGGAGTTCGAGACTAGCCTGGTGAAT ATGGTGAAACCGCGTCATTTTACTAAAAATACAAAATTAGCCTGGAGTAG TGGTGCATGCCTGTAGTCCCAGCTACTTGGCAGTCTGAGGCAGGAGAATC ACTGGAACCCAGGAGGCAGAGGTTGCAGTGAGCCTAGATGGCACCATTGC ACTCCAGCCTGGGCAATAAGAGCAAAACTTTGTCTCAAAAAAAAAAAAAA AAGAATAGTGTCTGCTAGGTTGGCTGCAATGGCTCTTGCTGGTAATGTCA GCACTTTGGCAGGCCCAGATGGGAGGATCACCTGAGACCAGGAGTTTGAA GGTACAGTGAGCTATGATCGCGCCACCGCACTATAGCCTGGATGACAGAA CAAGACCCTTTCCCTGAAAATAAAAATAAAAAAAGAATAGTGTTTGCCGC TGGTTTCTTATATATTCTTAGGTTAACAGGGTTTTTTTTTTTCTTTTTGA GACAGAGTTTCGCTCTCGTTGCCCAGGCTAGAGTGCAACGGCATGATATT GGCTCACTGTAGCCTCCGACACCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCAAAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATT TTTGTATTTTTAGCAGAGATGGGGTTTCATCATGTTGGCTAGGCTTATCT CGAACTCCTGACCTGAGGTGGTCTGCCCGCCTCGGCCTCCAAAGTGCTGG GATTACAGGCCTGAGCCACCGTGCCCAGCCCTGGATTCTTTTTAAAATCA AGAATGGGTATTGGATTTTCACTCCTTATTATTGTGTACATAAACAGGAG ATACAGAGATGAAAGGTGAAGTCCCTGTCCTCAAGAAGCCTTTTTTTTTT TTTTGAGATAGAGTCTCATTTTGTTGCCCAGGCTAGAGTGCACTGGCATG ATCTGGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCAATTCTCTTGC CTTTGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGC TAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGCCCAGGCT GGTCTCAAACTCCCAACCTCAGGTGTTCTACCTGCCTCAGCCTCCCAAAG TGCTGGGATTCTGTGCTGGGATTACAGGTGTGAACCACCACGCCCAAACT TTTTTTTTTTTTTTTTTAGACAGAGCAGGCTGTAGTCCAGTGGCACGATT ATAGCTCACTGCAGTCTCAATCTCCTGGGCTCAAGCGATCTTCCCACCTC AGCCCCCCAAGTAGCTAGAACTACAGGCATGCTCACCATGCCTAGCTAAT TTTTTATTTTCTGTAGGTATGGGGTCTGTGTTGCCCAGGTTGGTCTTGAA CTCCTGGACTCAAGCAATACTCCTCCCTCAACTGCTCAAAGTAGTGGGAT TACAGGCATGAGCCACCGTGCCTGACCAAGAAGGCTACAGACTTTGGGAG GCCGAGGTGGGTGGATCACCTGAGGTTGGGAGTTGGAGACCAGCCTGGCC AACATGGTGAAATCCTGTCTCTACTAAAAATAGAAAAATTAGCCTGGCGG GCATGGTGGCACACACCTGTAATTCCAGCTACTGGGGAGGCTGAGGCAGG AGAATCGCTTGAACTCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGC CACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTGTCTAAAAAACAAA ACAAAACAAAACAAAAACACAAGGTAAATAAAAATTGCTACACAGTGAGA TATATGTAGCAATAGAAATATGTTCATATTAAAAACATTTTGGGGCCGGG GTGCAGTAACTCACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG02132.hp2 others(2): Show HG00597.hp2 HG00621.hp2 HG02132.hp2 NA18955.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0058 others(2): Show a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0126	5	358	0.0140	-2814	c.-45 others(11): Show c.-4559_-1746del		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding					1629		chr1	TogoVar
RPH3AL_chr17_207389_357807	253675	CGTTACTA others(2807): Show CGTTACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGG AGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCATGGCGTCTGTCCTGTTCCATCCCTAG GAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGCTGCACGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTA CGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTA GGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCT GTCCTTTTCCATCCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGG GGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCT ACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCT AGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTC TGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAG GGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCC TACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCC TAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGT CTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGA GGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACC CTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCC CTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCG TCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATG AGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTAC CCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATC CCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGC GTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTAT GAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTA CCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCAT CCCTAGGAATGTGACTACCCAACGTACTTCCTATGAGGGGAGCCGCACGG CGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACT ACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCA TCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACG GCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGAC TACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCC GTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCC TATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTT CCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGC ACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTT CCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGT GACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTT TCCATCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0023	1	133	0.0075	-2814	c.439 others(17): Show c.439-9204_439-6391del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
SLC9B1_chr4_102895928_103024705	102901660	CTTAGTTG others(2805): Show CTTAGTTGCCTTTACCGTGTGCAAGTGGTTCTTGACTACAACAAGACAAC ATAAAATACTAAGGTTTCTTATGGTTCTCTAGGATTTGTTGCCCTTCTTC TCATTGTTCTCCCTATTCAGGGGGCACTGTGTTATAGCAGAACTGACAGC AGGCTTGGAATCTAGCAAACCGGGTTTGAATTCTATTTTTGCTGCAACCA GGCTAGTGACCTTGTACAAATGACTCACACTCTCTAACCTTCTACTTACT TATGTGTAAAATGAAGAACAAAATACTTATCTTACTGAATGGTTGTGAAA ATTAAATATGAGAATGCAAAGAACAGCTGGCACACAGTAGGTATTCAGAT AGTAGTAAGTTTCTCTCTCCCTCACTCCTCATGCCCTGCCAGGTCAGAGA ATGAGTTCCTTTGAAGTTTTCGTTTTAGAATGACTGTACTGGGTCACAAG TTTTTTTCCCTAGTCACCTTCTACCACATTATTTTTAATAACATAAAGCA AATTTCTTGCTAACCCTCTTTCTTTGTGTTTAATAATCTAGGCATGAAAT TGCCTTAAAATTTTGGGGAATTAAATACCAATATATAACATATTTTCTAT GGAGTTGCAAAGTAACAACATAATGGTGGAAACATTACCTCTGATATGGA ACATTATGGCAAAAGAACCCCTCAATTTAAGATCAATTTCTATATCCTAA ATCAATAATTTAAAATGGTATCATTTTTATATCGTAACTTTTAATGTACT GAACGTGAGCCAGTGTGCTGGAGGATGCTAGGGAGAAAAAGATAATCATG CAGAAAACCAACTTGAAAGAATCTTACAGTTTAGAAGAGGATTTGAACAT AAAAGAACTTCCAACAGAAAAAACAAAAAACAAAAACCAAACCCATTGAC TTTTAAGAGATGATTATGATAATGGTGAAACTAGAAATAATATTTATATA GTTATATGGCATTCATCATATGGCAGGTATCATTCTTAAAGCTTTCCATT TATCAATTCATTTAATTCTTACGACAACCTTATTATGTGAGGACTTTATT AGATGATAAATGATTTCCTCCTAGTGACTGAGATTTAATATTATTTCTTT AAAAGAATCCAATTGCCAAGCTGATCTTACATTTGTAAACTAAATTATTT ATTTACTCTCCTAATAGCTTCATTTTTCCACTCTAATTTTTATCAGTAAC TCGAAACTGAAGAACAAGAGAAAGAGCTGAACCTTAGCCAATTTTATGTT AGCAGCAGAGAACGGTGGAAGAGGATAAAGGTGAAAATAATTTAAAATTG AAATTTAAATATTTGTTGATCTTATTTACTTGTGACATTATCGTTATCTA TTATTGCTGTTGTGACTCTACTTGTATAAATAATTAATTTTTTATGTCTT GCCAGTTCCTGGAACCAGCTTGATATTCTTTGTGTAGAAGCTAGCCTGAA GCCAGCAGACAGGAATAGGCAGAAGCAGAATAATACTGCAGGACTCGAGT GAGTGGTCTCTTTCCTCATACCTGCTTTTCTTTTTTCCCTGCTTTATGAA AATTATGAAATAATAAAACAAAATTGCGAGAGTATTGTTGGAAGGAGAGA GAACAGATACTCCTTTTGTAGATTTATTATTCCCTACAGTAGACATTAAA AATAAAAAGTTATTATTTATATTACTTGAAGGTAAGATAAAATAACAACA TTGTTAATTGAGCACCACCATATGCCAGAGAGAGTGCTAAGCACTTTACG TGGATTATCTCATTGAATCCTGACAACACTGCTAAGAAACAGATACAGTC ATAGACTTCATTGTAAGATGAGAACACTGAAGGACTGAGAGATTAGAAAA TAATTTTCCTGAGGTTATAGGCAAGTAACATGGTATTCAAAACAGGTAGT CAGGCCCTATGAACCTGCTTTTCTAACATGATAATAGAGGTTTTTTTTGC ATGAAAATTTAGGAGCTTCTGTTTTGGAATAACAACTAAGAAAAGAGCCA CAGGAAATTAAGGTATATTATGCTGCCAAGTTAAACAGTCTAACAATAAG TAGCAATATATTTTAGGAGGAGGAGAATATCCTTGAATAAGAGGGCAAAA TTACAAGGTTTCCCTTTCTGTTCATTCATTCTTGCAGGCATGCAATACAC ATTTGGCTCCTGCATGTCAGGCACTGTGTTAAGTGCCAGGGAGAAATAAT GAAAAACAACTGCAACAACCAGACACTGTCCCTGTCCTTACGTAGTCTAT CAAGGGGGCAGGGGCAGGGATTTAGCCATTAACCAAATAGAATACAAATA AATGTGTAATTAAAAACAATAAATGTGCATTTGTGTGATGGAGTGAGTGG CAAGGTAGGAAAAGTATTTTTTAAAAAATCAATGTGTCTCTATTTTACTT TACTTTTTTTTTTTTTGGAGACAGGGTCTCATTTTGTCACCCAAGCTGGA GTGAAGTGGTGTGACCTCAGCTCATTGCAGCCTCAACCTCCTGAGTTCAA GCAATCCTCCTGCCTCAGCCCCCAAGTAGCTGTGACTACAAGTGCGTGCC AACACACCTGACTAATTTTTTTGTATTTTTTGTAGAGACGAGGTTTTACC ATGTTGCTCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCTGCCTGCC TCAGCCTCCCGAAGTGCTAGGATTCCAGGCATGAGCTACCATGCCTGGCC TGTGTCTCTACTTTTTAAAATCATAACATTTAGCTTTGTTATATTCAGCA AAATATAAAAACTCCAATTTTCAGATATATTCTTATTATATATTTTAGGA AAATAAAAAACAT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	318	0.0031	-2812	c.133 others(18): Show c.1332+1042_1333-329del		SLC9B1	ENSG00000164037.17	transcript	ENST00000296422.12	protein_coding	11/11						chr4	TogoVar
DLGAP1_chr18_3491032_4460307	3635430	CGCCCGGC others(2801): Show CGCCCGGCCTGTCTGTCCCATTTTTTTGTCAGCAAATAGGAGCTCCACCT TCTTGGCCAACTCATTCATTCATTCTTGCAGCAGTGGGTGTGGTGACCTC TACTGTGACTAGCTGAGGACAACCTCCTGGGGACCAGGGAAGCTGCTGGG GATGTACTTTAATGAGAATACTCACCAGCAGATGGCCACCATCTCTGTCT TGCAGTCAGTTACTTGCTAACAACTTCCTTATGTTTAACCCAATTCTCTC TTGGAATGTAACCCCCTAACTTTGAATTCTAATCTTCAAAAAGAAAGAAA CTGGCAATATCCAATTTGTAAGCCCTCATTCTTCCCCTCATAACTATGTT TAAATAGTCAGCAATTCCATGAATTCAATCTCCTCATCCCATGGATGACT TGGTCTTGACAGGCCTTCCTCAATAATCACTGGATTTTCTGCCTCTAATC CAGACCCTTCCTAATTCACTCTTCGAAATGCCTTCTGAGTTGTATTTTGA AGAAAGCAACTCAATACTTCATTCACTGGCTTAAAGATCTTCAATATCTC CTCATTTCCTAAAGAATGAAATTCAAATTCCTTGAGGGGATTTTGACAGT TGGGCCCTTTATCTTCTGCCTCTTCCTATTCTCTCCCCACATACCTTTCG CTCTTTTCTCAGATATGTGTATGGTCCTGTTTCCCTGACTTGACACATGC AACCCTTCTGCTTGGAGTTTCCACTCTCCCTTTCTTTACCTGGCCAACTC CTATCATCCTTCAGGTGTGCTGTCACCTCTCCTGTGAAGCCTTCCTAGGT TATCTGCTTTGTCCTCATGCTCTCTTAGCCTTTAAAGGCTGTCTTTTACA CCTTTCATTAACTAATTATAGATTTCTGTCTCCCCAAGAGATAAGAACCC ATGTCCTCACTATTTCTGAGTCCAGACCCTATAGAGTGCCCAGTTCAATA GAATTTGTTTTCAATTATACTTTTGTATATAATTTTTGTTGGTTTGTTTT TTGAGACGGAGTCTCGCTATCTTCTAGGCTGGAGTGCAGTGGCACTATCT CGACTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCTTCA GCCTCCCGAGGAGCTGGGACTACAGACGCACGCCACAATGCATGGCTAAA TTTTGTATTTTTTTTTAGTAGAGATGGGATTACTCTATGTTGGCCAGGCT GGTCTCAAACTCCTGATCTCAAGTGATTCACCCGCCTCGGCCTCCCAAAG TGTTGGGATTACAGGCATAAGCCACCATGCTCGGCCACTTTTACATCTTT TTTTTTTTTTTTTTGAGATGGGATCTTGCTCTCTTGACAGGCTGGAGTGC AGAGGAGTGATCTCCGCTCACTGCAACATCCGCCTCCCAGGTTCAAGTGA TTCCCCTGCCTCAGCCTCTCAAGCAGCTGGGACTACAGGTGCACACCACC ACACCTGGCTAATTTTTGTATTTTCAATAGAGACGGAGTTTCACCATGTT GGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCAT CCCAAAATGCTGGGATTACAGGCGTTAGCCACTGCGCCCGGCCACTTTTA CATGTCTTAAATGAGTTCATATGTCTTTCTAAGGAAACTCAATCTTTTCC TAAGAACAAAACTGAACTATCACAAAATGAACCCCTGGATGTCCCTGATT ATCCAATAGGCAACAGTGATACCCCATCCTTTTGATTGTTGTAAAATTTT GCAGTGTATGTTTATGGATATTTGCAGGGATAGTGAGTGAGCAAGAAAGG GGCAAAGGCTGATCAAGGAATTTCATTTCTTCCTAATTTTAAGACCCACA ATCTGGTAATATAAAATGATACGTGCAAATCCCTAGAAAAGTCTCCATCT GAGGCTCTCCTCTTGTTTGCCTTCTAGAAACACGTTTAGTTTATTTGGTA AAGGAGACACACTTCGCTCCTGGTAGCACTTTCCTATATCTACGATTTTG CTCTTTTAAAAATGTTTTTCTAGGCCAGGCGCAGTGCCTCACAACTGTAA TCCCAGGACTTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGCCCAGGAGT TCAAGACCAGCCTGGGCAACATGGCAAAACCCTGTCTCCCCCACCAAAAA AAAAAAAAAAAAAAAAAATTAGCCGGGCATGGTGGCATGCACCTATAGTC CCAGCTACTCAAGACACCAAGGTGAGAAGATTGATTGAGCCTGGGAGGTC GAGGCTTCAATGAGCCATGATTGTGCCACTGCAATCCAGCTTAGGCAACA AAGTGAGATACTGTCTCAAAAATTAAAAAAAAAATTCTAGTTATTTAAAT ATTATATCAATATAATACACAGAGTTTTGTTAAAACTTATCCAATTCCAA ATATATTAGAAAGACTAATGCCTGACTTACGTTTCTTTGGCACCTAATGT ATTTTCAATTCATAACTCTATGGTTTGTTGCATTATCACTATTGTAGGTT TTTGTGCTAGGTAGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGC TCTGTTGCCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGCAAGC TCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCT GGGAGTACAGGCGCCCGCCACCCCGCCAGGCTAATTTTTTGTATTTTTTA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAC CTCATGATCCGCCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp1 HG02258.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0028 a0001c0001t0002 a0001c0003t0028	a0001c0001t0002g0047 a0001c0003t0028g0036 a0001c0001t0002g0047 a0001c0003t0028g0036	2	80	0.0250	-2808	c.159 others(21): Show c.1592-55990_1592-53183del		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12						chr18	TogoVar
ASMT_chrX_1610059_1648081	1637297	TCATGAGG others(2790): Show TCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAG CCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCA TCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGG ACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAG GATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCC TGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCT GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATC CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGA TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACA TGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGT GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGG GGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGA GGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCT CCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCT CTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCT CCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGA CCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCATCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAAGGACT GTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA GGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG02273.hp1 HG00639.hp1 HG01175.hp2 HG02273.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0002c0002t0002 a0001c0001t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0002g0168 a0001c0001t0005g0165 a0002c0002t0002g0217 a0001c0001t0002g0168 a0001c0001t0005g0165 a0002c0002t0002g0217	3	223	0.0135	-2797	c.910 others(16): Show c.910+766_911-2681del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CASP8_chr2_201255536_201292709	201281925	TTCAAATT others(2785): Show TTCAAATTCTTTTTTTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGT TTCTCGCAGAGGGGGATTTGGCAGGGTCACAGGACAATAGTGGAGGGAAG GTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGG ACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTAAGATTAGGG AGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACA AAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGC ACATGTTTCAGAGAGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGA TCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCC CATGTCTACTTCTATCCACACAGACCCGGCAACCATCCGATTTCTCAATT TTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGCCATTGTCATC ATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGAAGC GCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCGCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGATAGGGC GGCTGGCCGGGCGGGGGGCTGTTCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCCGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCAGCCGGCCGGAAGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGAAC CCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGC GGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCG ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGATGGCCGACCACCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGA GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACT TCCCAGACGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGG GGCGGTTGCCAGGCAGAGGGTTTCCTCACTTCTCAGACGGAGCGGCCGGG CAGAGACACTCCTCACCTCCCAGACAGGGTTGCGGCCCAGCAGAGGCGCT CCTCACATCCCAGACAGGGCGGTGGGGCAGAGGTGCTCCCCACATCTCAG ACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGATGGCG GCGGGGAAGAGGCGCTTCTCGCTTCCTAGATGGGATGGCGGCCGGGCAGA GACGCTCCTCACTTTCCACACTGGGCAGCCAGGCAGAGGGGCTCCTCATA TCCCAGACGATGGGTGGCCAAGCAGAGACGCTCCTCACTTCCCAGACGGC GTGGCGGCCGGGCAGAGGCTGCAATCTCGGCTCTTTGGGAGGCCAAGGCA GGCGGCTGGGAGGTGGTTGTAGCAAGCCGAGATCACGCCACTGCACTCCA GCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCATCTGCAATCCCG GCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGAGCTGGAG ACCAGCCCGGCCAACACAGCGAAACCCCATCTCCACCAAAAAAAAAACGA AAACCAGTCAGGCGTGGCGGCGCGCGCCTGCAATCGCAGGCACTCGGCAG GCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAG CAGTACCGTCCAGCTTTGGCTCGGCATGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp1 others(214): Show HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0005c0006 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0002 a0001c0002t0009 a0001c0002t0016 a0001c0004t0002 a0002c0003t0007 a0002c0003t0014 a0005c0006t0002 a0006c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0169 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0002g0042 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0013g0268 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0047 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0106 a0001c0002t0002g0108 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0139 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0220 a0001c0002t0002g0270 a0001c0002t0009g0005 a0001c0002t0016g0140 a0001c0004t0002g0002 a0001c0004t0002g0038 a0001c0004t0002g0121 a0001c0004t0002g0129 a0001c0004t0002g0132 a0002c0003t0007g0030 a0002c0003t0007g0043 a0002c0003t0007g0056 a0002c0003t0007g0125 a0002c0003t0007g0134 a0002c0003t0007g0138 a0002c0003t0007g0214 a0002c0003t0007g0215 a0002c0003t0007g0226 a0002c0003t0007g0269 a0002c0003t0014g0267 a0005c0006t0002g0107 a0006c0008t0002g0109	217	386	0.5622	-2792	c.803 others(15): Show c.803-2880_803-89del		CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
DCHS2_chr4_154226742_154496799	154346511	AACATGTC others(2785): Show AACATGTCCTTATTTAGTCAACATATATAATTATTTTTAATGAATTATAC ATGAATTCTACCTAATTGCCCATTTAATAAAGAAAGTCACCAGATCAGGT GCCTATGTAAGTAACTGTTCATGCTTAAAGTCGAATTCCTGGAACCCTGA AAAGTCATTTATTGAGCTGCTTCTACTTAAGACCACAAAATTTGTCCCTG GCCAGTGGGAAACTATCTTATGTTCAAAAACTATAGAAAAATAATTCATA ATTCCTAGATACCCATCGAAAAGTCTACCCCATATTTAACTGTACTCATT TGCATTTTAAACCCATACTCCCCCTCTTGATGTGGAGTGTTTACCATAAC AAGCTGCAAACTTTGTGTCACAAAACTGGACATTTAAAATACCCTGATTT TTAGTGATAATGTCCGACTTCAGATTTGTATGTATCTAACTCTTGTGAAC CTGCTTAGGATGATATATTAAAGATACGTCTGTGACAGTTAGAAGACCAC TTTAATCAATGTGATATATTCAGAGGATATAATCATTATTTCAGTTTAAA ATACGAGTCTCCCTCCTGCATCAGTACTGCACAAACAAATGAGTGACATT TGTAACGTTTTTAATCCTTGCCTTCAAATGCTATGAATGTTAGAGTTCTG ATTCTATATGCTAATTTTATGTTCTCAGTGCTAGGTTTATTTGGGAATGA TTTTGATTAAATCTTAGCAGAACCAGACTTCCTACATAAACCTGGCATCC TAGATATTTTCCATATGGGGAACGGCTTCTTAAAAGCAAGGCAAGAAATC TATTATTTAGGGTTGATGGAGTAAGAAAAGAGCATGGAGTCAGATTTTTG CATCAGATACAGCTGGGTTCAAATCTTGGTTCTATCAATCCCTAGTTTGA TCTTCAGCAGTTTCTTAAGTGCTCTGAGCTTCTGTTTATCACTTTAAACA GACTGAAGAATCAGACTAATACCATTTACTGTGCAGAACTGCTATGAGGA TAAAATTACATCGTATATATAAACAAAGTACTGTTGTACTACAGTATAGT ACTACAAAGTACTGTAGCATAGTGTCTGACATATACTGACTCCTTAATAC AATACTAGTTCCCTTCCTTCTCTCCTAAGGACTACAAGGTATTAGATGGG TAATTCCATGCACCAAGAAATAATCAATAATGAATGATTTAAAAATATTT TGGGGAAAGGGAAAGTAGGAGGAACTTGAGTAGCATCAATACTTCACTGC AAAGCATGCATAGGAAGTCCGCTGGAAGAGCTGACCAGTGGCCAATCTGA CCTGGTAGCCTGCCACCAAGGAGCATTTTGGGAGAGGCTGTAATGACACT CATTCCAACATGTCTAGCCCCTTTACTTAAATGGTACAGATTTCTGGTCC ATAGACTTATCTAAACCAGTCCTGGATAGATGTATATTTTGCATTTGTCC CACTACTGTAGGTGGCAGACTCTTATAGTTTGCATGGGGTTTACAATGTG TTCCCCTAAGTTAATATTTCAAAATCTTTTCAATAAAGCTTTCTGATTTT ATAAAGCTGGATACTGACACAAGTTGGCAACAGGGATGTGGGCTGATAGT CCCTTTTTGGGAGGCCCAAATACATTTCCAGTGGACACAGATGGCTTAAC TATTATTCTCTCTCACTTTGTCATTTGAAACACTGATCATTTGAGAGAAT CAACTCTGAACACCACTATTTACACCAATGCACCACCAACAACAGACATA ACACTAATTTAAATATTCAGTTTAAAGGAAATAATTTACTTAAAGCAAAA CCCAAAACCCTTGAAGACCTGAACCTGACAGTGGTCCTCACAGTTGCGGG AGTACCATGGAAAGGTCATAAATTTGGCAATAATTGAGAAAAGAATCGAG TATTATTTTAAGATAACATAATTTTAGAAAGGTAATATAGTAAGTTGGAT CATGTCTCACCAAATTTATGTCCACTTGGATCCTCAGAATATGACCTTAT TTGGAAAAGGGTTTTTGTAGATATAATTAGTTAAGGATCTCAAGAGGAAA TTATCCTGGTTTTAAGGGTGCCCTAAATCCAATGACCGGTGTCCACACAC AAGGAAGGACACAAGAAGACACAGAAAAGAAGGACATGCAAAAATGGAAA CAGAGATGAGAGTAACACTGCCATAGACCAAGGAGTGCCAAAGATCACCA ACAAACACCAGAAGCTAAGGGAGGTTCCAGAAGAAACTAATCCTGTTGAC ACCTTGATTTCAGACTTCTGGCCTCCAGAACTGTTAGAGAATGAGATTCT GCTGTCTAAGCCACCCAGTGCGTGGTGCTTTGTTATGGCAGCCCTAGGAC ATGAACACCAGCAGGAGGCGTATGGTAAGGTGGGAACTCTGAAGCCAGAC TGTCTCAGTTCACATTTTGGTTGTCACTTTCTCATTACGTTTATGGGCTG TTGATCTTTTTTGGATTCATTTGCTCATTTGTGAAATGGAGATAAAACTA GTTCCTATATCAAAGGTTTGGCATGACAGTTAAATCAGGCAGTTAATGCT CAATAAATATTGCCAAAAGACAAAATGACAACAAATTTAGTTTAAAGATC TTAATTGGCTTTTATTTGCAATTCTAGAGTTGAGAAACACCTCGATGTGT TCCAGTGAGCTGAGCAGAAGTGGCTGGCTTTATAGACAGAAAAGGAAAAC AGAAACAGGGAACAAAAAGTCATTTCACAGTTACTTTCCTTGTAAAGGTT AAATCAGATGGGACTTTCTTATCATGCCAGCTAAAATTGGCTC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG02145.hp1 HG02922.hp2	a0050 a0104 a0050 a0104	a0050c0045 a0104c0103 a0050c0045 a0104c0103	a0050c0045t0001 a0104c0103t0018 a0050c0045t0001 a0104c0103t0018	a0050c0045t0001g0044 a0104c0103t0018g0135 a0050c0045t0001g0044 a0104c0103t0018g0135	2	192	0.0104	-2792	c.247 others(21): Show c.2477-14199_2477-11408del		DCHS2	ENSG00000197410.14	transcript	ENST00000357232.10	protein_coding	3/19						chr4	TogoVar
ADAMTS19_chr5_129455298_129743683	129545578	CATGAACA others(2784): Show CATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACA TGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACC ACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTC AGGCAACAACAGGTGCTGGAGAGGATGTGGAGAAATAAGAACACTTTTAC ACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATCTGACCCAGCCATCCC ATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAGAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGT CCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCACAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTGGGGGCAGGCGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACGAGTTTGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAAAAAAAATTAAAAAAAAGAGAAGATAAATAAAAACAAAAT CAGTACCTTGACCCATCTTCGTGGGACTGTAGAATTATAAAGACGGAAAG AGTGTTAAAAAAGTAAGCAGAAAGCAAATGCATGAAAAAAAGGCAAAAAC TGTAATCAGAGACTTCTAATCAATATTTATGAATGCTGGAATAAAATGAA ATGGTATCTTCAGTGTGTTGAGAGTCAATAAAGTTGACTTTATAACAACT CAGTTACTATTCAGTTATGAATACATGCAAAATAATAAAAATGAAAGCAA AAGAAAAAACAAGCAAAGTTTACCATTCATAGATAGATCCTCATTGGAAG AGATGCTGAAGAATGTACTTAAAGAAAAAGAATAGTGAGATGTCTAGAAA GTAAATTATAACTGAGAAAATAAATTGCTAAATAAATAGGCAAATTGCTA CATAAGCCCTGATGGTTTTTAAAAGAAACCGTCTAATTTTAGATTTGAAA AATCAAGATGGAACCATAATTTCAGATTAAAAACACATGAAAAATTGAAG GGAGAGATTGGATTAAAAGAATGTTATATTCTTGCCTTTTTCAGGAGGAA GAGCTTTAGACATTCTAAGGATATGTGGTAGGCAGGAAAAGTAACATCCC CTGCAAAGATGTTTATGCTCTAATTTCCAGAACCTGAAAATATGTTATCC CATATGGAAGAAATGACTGTGCAGATGTGATTGTATTAAGGATCTTGAGG GGGCGAGATTATCCTGGTGTGAGGAAAAGAGAGAGAGTGGAAAGTCAGAG AGGGTCATATGAGGATGGAAGCAGGGGGCAGAGTGATGCAATCATTGACC TTGAAAATAGAAGGAGGCCCTCAGTCAAGAAACCTGGGTAGCCTCTGGAA GCTAGTGAAGGCAAGGAAACATATTCTCATCTAGAGCTTTCAGAGGGAAC ATGATACTGCTGACACATTGATTTTAGTGCAGTAAAGCCCATTTCAAAAT TCGGGCCTTCAGACTGTAAGTTAAAGTTTTGTGTTGTTTTAAGTCACCAT ATTTATGGAATTTTTACAGCAGCAATAGAGAACAAATATATCATACTTTA GAAAGTAAAAGGAATCATACATCAACCACAATTTAATGTTACTTTCAAAG TAGCCAAAAAAAGTGAGTGAAAAATAAAAGGAAGAAAGAGAAAAAGAAGA ACAAAGAAATATAACTTGGCATTGAATCTATAAATAGATTCAATGCCATC CCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTT AAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGCCAATCCTAA GCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTACAC TACAAGGCTACAGAAACCAAAACAGCATGGTACTGCTACCAAAACAGACA TACAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCACATATCT ACAACTATCTGATCTTTGACAAACCTGACAAAAACAAGCAATGGGGAAAG GATTTCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAG AAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATTAATTCAA GATGGATTAAAGACTTAAACGTTAGAACTAAAACCATAAAAAACCTAGAA GAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAAGACTTCAT GTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGG ATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGA GTGAACAGGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATC TGACAAAGGGCTAATATCCAGAATCTACAATGAATTCAAACAAATTTACA AAAAAAAAAACAAACAACCCCATCAAAAAGTGGGTGAAGGAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02896.hp2 others(4): Show HG01243.hp1 HG02486.hp1 HG02896.hp2 HG02970.hp2 HG03453.hp1 NA19030.hp1 NA20129.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0008 a0004c0007 others(1): Show a0001c0001 a0001c0008 a0004c0007 a0006c0012	a0001c0001t0001 a0001c0008t0002 a0001c0008t0004 others(2): Show a0001c0001t0001 a0001c0008t0002 a0001c0008t0004 a0004c0007t0008 a0006c0012t0001	a0001c0001t0001g0017 a0001c0008t0002g0013 a0001c0008t0004g0011 others(4): Show a0001c0001t0001g0017 a0001c0008t0002g0013 a0001c0008t0004g0011 a0001c0008t0004g0012 a0004c0007t0008g0026 a0004c0007t0008g0027 a0006c0012t0001g0109	7	226	0.0310	-2791	c.132 others(19): Show c.1329-6229_1329-3439del		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
BRSK2_chr11_1384934_1467689	1429577	TCAGCAGT others(2780): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACT GTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTG CCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTG GTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03209.hp2 HG03453.hp1 HG00438.hp2 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0073 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0073	3	360	0.0083	-2787	c.92- others(15): Show c.92-6275_92-3489del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNF267_chr16_31868807_31922357	31910157	GCTAACAC others(2780): Show GCTAACACTTTGTTATTTTTACATAAATATTTATTATAGATATTGGCGTA CAGTTTTCATCTTTTGATGTATCTTTTTCTGATTTGGGTATTATGGTAAT ACTGGCCTCAAAGAATGAGTTGGGAAGTATTCCTTCCTCCTGTGTTTTGG AAGTTTTTGAGTAGAGCTGGTATTAGATCTTTAAATGTTGGGTAGAATTT AGTGGTGAAGCCATCAGGTCCTGGGCTTTTCTTTACTGGGAGACTTTTTA TTATGGCTTTGAACTTGTTACTTCTTATTGGTCTGTTCATGTTTTGGATT TCTTCGTTGTTTAATCTTGGTAAGTTGTATATATCTGGGAACTTACCCAT TTTTGTTAGATTTTCCAATTAGTTGGCATACAGTTGTTAATAATAGCCAC TAATAATCTTTTGAATTTCTGCAGTGTCAGTTATAATGTCTCCTTTTTCA TCTCTGGTTTTATGTGGGTCTTCTTTTTTTCTTAGTCAAGCTAAAGGTTT GTAAATTTTATTTATCTGCTTAAAAAAATCAACTTTTCATTTCATTGATT TTTTTTGTATTTTTTATTTGAATTTTATTTCTGCTGTGATGTTTATTATA ATTTTTGTTTTGCTGTTTTTTCTTTAAGATCCAACATTAGGTTATATGAT TTTTTTCTTTTTTGATGTAAGCACATATATCTATACATTTCTCAGTACTG CTTTTGCTGTATCCCATAGGTTTTGGTATGTGTTTTTTCATTATTTGTTT GAAGAAATTTTTCAATTTCGTTCTTAATTTCTTTACTGATCCAATTTTCA TTGAGGAGCGTATTGTTTAATTTACATTTGTTTGTATAGTTTCCAAAATT CTTGTTACTGATTTCTAGTTATATTCCATTGTGGGCAGAGATGTTTGATA TTATTTCACTTTTCTGAATGTTTTAAGACTTGTTTTGTAACCTAAAATGT TGTGTATCTGAAAATTATCTATGTGCTGAGAAGAATGTGTGTTCTGTAGC CATTAGATAAAATGTTCTGCAAATATTTATTAGGTATATTTGGTTTATAG CACAGATTAAGTCTGATGTTTCTTTCATGATTTTCTATCTGTAAGATCTG TACAATGCTGAAAGTGGTGTGTTGAAGTCTCAATTATTATTGTATTGGGG CCTCTCTCTTTAGCTCTAATACTCTATGTCTCAGTGCTTTAGTGTAGGGT GCATGGATATTTAAAATTGTTATATTCTCTGACTGAATTGATCCCTTTAT CATAAAATGACATTTGTTCTGTCTTCACAGTTTTTATCTTGAAATATATT TTATCTGATGTAAGTATAGCTACTTTGGTTCTTTTTTTTTGTTTTCATTG GCATGGAACATTTTTCCATTCTTTTATTTTTCAGTCTATGTGTATCTTTA TAGATGAAGTGTATTTCTTGTGGGCAGCAGATAATTGGGTCTTCCTTTTT CTTTTTTTCACCCATTCTATGTCATCTAATTGGAGTGTTTAGTGCATTTC CATTCAGCATTATTATTGATAAGTATGTGTTCACTCCTGCCATTTTGTTA TTTGTTTTTGCATCTTCTCTTTCTTTTGTCCTTCCTTTCTGTCTTCATTT TAGTGAACATGATTTTTCTTGGTGGTATGATTTAATTTCTTGCTTTTTGG TTTCTGTGTCTGTTGTATGTTTTTTTATTTGAGGTTACCATGAAACTTAC AAATACTATCTTATAACCTATTGTTTTAACTGCTGACAACTTCACACTGA TTGCCTAAGTGAACAAATAAGCAATAAGAAAACTAGTAAAAACTCTACCT TTAACTTTGCTTCCCCATTTTTCAACTTTTTGTTGGTTCTCTTTATGTCT TATTGTACTGTCTTTGTCTTGAAACATTGTTGTAGTTGTATTGAGTCATC ATTGAGTATTTCTACTTGAGTATTTTACACACCACAGTTACCATATTATA ATACTCAGTTTTTCTCTGTGCTATTACCAATGAGTTCTGTACCTTCAGAT GACTTCTTATTGTTCATTAACATTCTTTTCTTACAGATGGAAGAGAATGC CCCTTAGTATTACTTGTAGGACAGGTCTGGTTTTAATGAAATCTCTCAGT GTTTGTCTGGGAAGGTCATTTTTTTCTCCTTCATGGCTATGGAATATTTT CACGGGATAGACTATTCTAGTGTAAAAGCTTTGCTACTTCAGCACTTTAA ATATGTCATGCTATTCTCTCCTGGCCTGTAAGATTTCCACTGAAAATCTG CTGCCAGACGTACTGGAGTTTCATTGTATGCTGTTTCTTTTTTCTTGCTG CTTTTAGGATCCTTTATTCTTAATTTTTGGGAGTTTGATTATTAAATGTC TTGAGGTAGTCGTCTTTGGGTTCAATCTGCTTTGTGTTCTGTAACCTGGT TGTACTTGGATATTGATATCTTTATAGATTTGGGAAGTTCTCTGATCGTA TTCTTGAAACTTTCTACCCCTGTCTCTTTCTCTCTTTAAGGCTAACAACT CTTAGATTTGCCCTTTTCAGGGTGTTTTCTAAATCTTGTAGGCATACTTC ATTCTTTTTTGTCTTCTCTACATATTTTCAAATTGCCTATGTTCAAGCTC AATAATTTTTTCTTTTGCCTGATCAGTTTTGCTATTAAGAGACTGATGCA TTCTTCAGTATGCCAATTGCTTTTTTAACTTCAATTTCTGCTTGATTCCT TTTAATTATTTCAACCTCTTTGTTTGATTTATCTGATAGAATCTGAATTC CTTCTCTATTTTATCTTGAATTTGTTTCCTCAACACAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA21309.hp2 HG02723.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0148 a0002c0002t0002g0149	2	216	0.0093	-2787	c.227 others(17): Show c.227-4315_227-1529del		ZNF267	ENSG00000185947.15	transcript	ENST00000300870.15	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPATA5_chr4_122918078_123324433	123052145	TTTTTTCT others(2778): Show TTTTTTCTCCTCTGACTGTGTATTTTCAAATAGTTGGGCTTCAAGCTCAC TGATTCTTTCTTCCTTTTCATCAGTCCTGCTGTTGATATTCTCTATTCCA TTTTTCATTTTGCTCATTGTATTTTCCAGCTCCACAATTTTTGTTTGATT TTGTTTATGATTTCAGTATCTCTGTTAAATTTCCCTGATACATTTCTGAA TCGATTCCGTCTGTTTTCTTGAAGTTCATTGAGCTCTCTTAAAACAGGTA TTTTGAATTCCTTGTCTGAAAGGTCACATATCTCTATCACTTTAGGGTTG GCCTCTGGTGCCTCATGTCCATTTGTTGAGATCATATTACCCAGAATCTT CTTGATGCTTGTGAAATTGCAGGCTGTCTGTGCATTGAGGGATTAAGTAT TTATTTTACTCTTCACAGTCTTCCTTTGTTTGTGCCTGTCCTTCTTTAGA GACCTTCCAAGAATTCTAAGCCAACTGAGTATTGTGTTTCCTGAGCCTGT GACCACTTCAGCTATCTAAACACTAGGAGACTGTATTAGGGTTCTCCAGA GGGACAGAACTAATAGGATTATGTGTATATGAAAAGGAGTTTATTAAGGA GAATTGACTCACATGATCACAAGTGAAAATCCCACAGTTGGCCATCTATA AGCTGAGGAGCAATGAAACCAGTAGTGGCTCAGTTCAAGTCCCAAAGCCT CTAAGGTAGGGAAGCTGACAGTGTAGCCTTCAGTCTGTGGCTGAAGGCCT GAGAGCCAATGGCAAACCACTGGTGTAGGTCTGAGAGTCCAAAGGGTGAA GAATCTGGAGTTTGATATTCAAGGGCAGGAAGCATCCAGCACAGATGAAA GCCAGAAGACTCAGCAAGCCGGCTTATTTCATCTTCTTCCACCTGCTTTT TCTAGCCACACTGGCAGCAGATTGGATGGTACCCACCCAAACTGAGGGTG GGGCTTTGTCGCCCAGTCCACTGACCCAAGTGTTAATCTCCTCCGGCAAC ATCCTCATAGACCCAACCAGAAACAATATTTTGCATCCTTCAGTCCAATC AAGTTGACAATTAATATTTACCATCACAGAGACTCTCTGAGCCCAGGCTT GCCACAAATCTCACAGGATCTCTTTGGTTGATATGGCTTTCTGGCCCAGA TGGACCTGGGGTAGACCCAAGGCAGATACTCCGGCTGCGTGGAAATGCTG GCCAGGGATCTGAGTCCAGAAGACTGTCCCAATCACCCAGATGAGTGTGC CTTTCAGCATATTTCTGCACAGGCAGGATGGGCTGCTAACTGCAGTGAGA GGGCCTGGAGTTGAGACTGGGCTGCGTTGGGATCTGCTGTGTGAAGGAGA CTGGCCCCGACTTATTTGCTCATATCAGCATGCATCACTCAGCTGGTCAT TGCAAAAGTGCTTGACTGTAACAGGGGGGTCTGGTACTGAGACTGGGCTC CCTTGGAATCTGCTGTGGGATGGAGGTTGGTGTTCTTGTCACATTGGCTC AGATGGGCATGTGTCTCCCAGCAGGTCCGTACATAGATGGGATAGCTCCC AGACTGCAGCAGGAGGGGCTGGAGCTAAGACTGGGCCCCCTTGGACTCTG CTGTAGGGACGGATTTGGAAAGCTTGTCTTGTTGGCTCAGAGTGGCATGC ATCTCCCAGCAGGTCTCAGCACAGATAGGATAGTTCCTCTACTGCACTGG GCGGGGCTTAGACTGGGTCTCCTCAGGATATGTTGTGGGATAGAGGCTGG TGAGCATGTCGGGGAGGATCAGAGTCCCAGGCCATGAGATTTGTGTGAAT CTCCCCCTGGTTTCTTGTGTAAGCAACTATAAGCTGGGACCTCAGCTAGG GAGGCCTGGAGCAGTGTCACAGTTCAACTTCCAGGTTCACTACTGAGACC AGTTATCAGTGGGCTGATGAGCTTTTCTGCCAAGGCATTAGTGTGCATGA TTTCTCTGAACCCTTTGGCAGATGATTTTGGTTGCAGGCTCAAGGTCAAA TGGGGCTATAGTCAAGCCCCTTGAGAGACAGGGCTACTTCTGGGCTTGAA TGCAAAAGCAAGCTCAGTGGAGCAGATCAGTCACTTGGGTGTTAGTGTAC CCTCTCAAAGTGACCCTCCTGTGTCTTAGGGTTTCACAATTGTGGATGGA TGGATAATTCTTTTTATTGTGGGCATATATGAGCAGGTTACCTTCTATTT CGCCATCTTGGTGGTGTCACTCTATGAACTACATACTTAAGAGAAATTGC TACACAGAATATATTGAGCATCCTTTTTTTTTTTTATGAATTAAGTCATT ATCGTGAACATCAAAAATAGTAATGTTACTTTGGGAGGCCGAGGCAGGCA GATGACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTGAAACCC TGTCTCTACTAAAAGTACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCT GTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATGGTGTGAACCCAG GAGGCGGAGCTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCTGG GTGACAGTGCAAGACTTCATCTCAAAAAAAAAATTAGTAATGTTAAGTCA AATTTGAATTATTCTACACCCCACTCTCATCTTCACATTTTGCTATCCAC AACACATTAATTTTATATTTTTAATTGTTTTTGTGGCTATCTTCTCATTT CCATTGCACTCCTTTGCCTTAAACTTGTTCCTCATTATTTTTCCCCTTTA CTATTCTAAGCATTTTATAACTGTTCTCTCGACTTC	T T	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18982.hp2 NA18966.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0008g0091 a0001c0001t0008g0092	2	262	0.0076	-2785	c.208 others(19): Show c.2080-4240_2080-1456del		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYE3_chr7_100302702_100327196	100311106	CAAAAAAA others(2776): Show CAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAAAGAAGGGTCAGAGGTC AGGAAGGAGAACCTGGGGAGGGTGTGTGGGAAGAATGGAGAAATTCAGGC TGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGC AGGCGGATCACGTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGT GAAACCCCCGTCTCTACTAAAAGTACAAAATTGAGCTGGGCATTATGGCA GGCACCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATAACTGG AATCCGGGAGATAGATGTTGCAGTCAGCTGAGATTGCACCACTACACTCC AGCCTGGGTGACAAAGCAAGATTCTGTCTCGAAACAAAAAAAAAAAAGAG GGCCTCAGAGAGCCAGGGACCAGGGAAGGATATGACGCAGTGTTCTGAGG ACAGAGAGAGGGAAGAATGGGGAGGGGAAGGAGTGGCACATGGGGTTGAG CAGAGGAGAAAGTCAGAAAGGTGGCTTGGAGAAGCCAGCAGTCTGAGAGG CTGGGGAGGATGGAGAATGGTTTGGGGTTTGGGGTCGGGGTCTAACGTGA TCAGTTGCAGAAGCATTACACGGTGGCCTGGTTTCTTTACTCAGCCCCTG GGGTAGATCCCAGCCCCCCACGTAGGTCCCTTGGCTGCAAAAGGAAGAGG GAGTGTTTGGATGAATCTGATGATGAGCCAGAGAAGGAGCTCGCCCCTGA GCCTGAGGAGACCTGGGTGGCAGAGACGCTGTGTGGCCTCAAGATGAAGG CGAAGCGACGGCGAGTGTCGCTCGTGCTCCCTGAGTACTACGAGGCCTTC AACAGGCTGCTTGGTAGGAGGACACCCCAGAGAGCACCTCCAATCCTGTT CTTTCTAAAAAGAGGAAACTTCCAATAACCACACTTTTCCAATGGGAAAA ATATGCCCCAGTGGGTGAGCTCTCCATGCGGGAGGACTCTGAAGTGATCA CTCATGAGGGACACTTAGGAGTCAACAGAGGATTAGGTAGACTTGATAAA GGTCGGTGCTTGGGATAAGAAAGCTTGGTTTTGGGCCAGGCGCTGTGGCT CCCGCCTGAGATCCCAGCACGTTGGGAGGCTGAGGCAAGAGGATTGCTTG AACTCAGGACTTTGAGGCTGCAGTGAGCTATGACTGCACCACTGCACTCC AGCCTGGGTGACAGAGCAAAACTCTGCGTCAAAAGAAAAGCCAAGGCTGG GCACAGTAGCTCATGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGACAGG AGAATCGCTTGAGCCTGGGAGGAAGAGGGTGCAGTGAGCCAAGATCGTGC TACTGCACTCCAGTCTGGGTGAGAGAGTGAGACGCTGTCTCAAAAAAAAA AAAAAAAAAAGAAGAAGAGAAAAAAGAAGGGTCAGAGGTCAGGAAGGAGA ACCTGGGGAGGGTGTGTGGGAAGAATGGAGAAATTCAGGCTGGGTGCAGT GGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCGGATCA CGTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCCG TCTCTACTAAAAGTACAAAATTGAGCTGGGCATTATGGCAGGCACCTGTA ATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATAACTGGAATCCGGGAG ATAGATGTTGCAGTCAGCTGAGATTGCACCACTACACTCCAGCCTGGGTG ACAAAGCAAGATTCTGTCTCGAAACAAAAAAAAAAAAGAGGGCCTCAGAG AGCCAGGGACCAGGGAACGATATGTCGCAGTGTTCTGAGGACAGAGAGAG GGAAGAATGGGGAGGGGAAGGAGTGGCACATGGGGTTGAGCAGAGGAGAA AGTCAGAAAGGTGGCTTGGAGAAGCCAGCAGTCTGCGAGGCTGGGGAGGA TGGAGAGTGGTTTGGGGTTTGGGGTCGGGGTCTAACGTGATCAGTTGCAG AAGCATTACACGGTGGCCTGGTTTCTTTACTCAGCCCCTGGGGTAGATCC CAGCCCCCCACGTAGGTCCCTTGGCTGCAAAAGGAAGAGGGAGTGTTTGG ATGAATCTGATGATGAGCCAGAGAAGGAGCTCGCCCCTGAGCCTGAGGAG ACCTGGGTGGCGGAGACGCTGTGTGGCCTCAAGATGAAGGCGAAGCGACG GCGAGTGTCGCTCGTGCTCCCTGAGTACTACGAGGCCTTCAACAGGCTGC TTGGTAGGAGGACACCCCAGAGAGCACCTCCAATCCTGTTCTTTCTAAAA AGAGGAAACTTCCAATAACCACACTTTTCCAATGGGAATAATATGCCCCA GTGGGTGAGCTCTCCATGCGGGAGGACTCTGAAGTGATCACTCATGAGGG ACACTTAGGAGACAACAGAGGATTAGGTAGACTTGATAAAGGTCGGTGCT TGGGATAAGAAAGCTTGGTTTTGGGCCAGGCGCTGTGGCTCCCGCCTGAG ATCCCAGCACGTTGGGAGGCTGAGGCAAGAGGATTGCTTGAACTCAGGAC TTTGAGGCTGCAGTGAGCTATGACTGCACCACTGCACTCCAGCCTGGGTG ACAGAGCAAAACTCTGCGTCAAAAGAAAAACCAAGGCTGGGCACAGTAGC TCATGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTT GAGCCTGGGAGGAAGAGGGTGCAGTGAGCCGAGATCGTGCTACTGCACTC CAGTCTGGGTGAGAGAGTGAGACGCTGTCTCAAA	C C	exon_loss_variant exon_loss_variant	HIGH	HG01943.hp1 HG03209.hp2 HG01943.hp1 HG03209.hp2	a0003 a0003	a0003c0012 a0003c0023 a0003c0012 a0003c0023	a0003c0012t0001 a0003c0023t0001 a0003c0012t0001 a0003c0023t0001	a0003c0012t0001g0135 a0003c0023t0001g0160 a0003c0012t0001g0135 a0003c0023t0001g0160	2	344	0.0058	-2783	c.545 others(15): Show c.545-248_983-248del		SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE3_chr7_100302702_100327196	100311491	AAAAAAAA others(2775): Show AAAAAAAAAAAAGAGGGCCTCAGAGAGCCAGGGACCAGGGAAGGATATGA CGCAGTGTTCTGAGGACAGAGAGAGGGAAGAATGGGGAGGGGAAGGAGTG GCACATGGGGTTGAGCAGAGGAGAAAGTCAGAAAGGTGGCTTGGAGAAGC CAGCAGTCTGAGAGGCTGGGGAGGATGGAGAATGGTTTGGGGTTTGGGGT CGGGGTCTAACGTGATCAGTTGCAGAAGCATTACACGGTGGCCTGGTTTC TTTACTCAGCCCCTGGGGTAGATCCCAGCCCCCCACGTAGGTCCCTTGGC TGCAAAAGGAAGAGGGAGTGTTTGGATGAATCTGATGATGAGCCAGAGAA GGAGCTCGCCCCTGAGCCTGAGGAGACCTGGGTGGCAGAGACGCTGTGTG GCCTCAAGATGAAGGCGAAGCGACGGCGAGTGTCGCTCGTGCTCCCTGAG TACTACGAGGCCTTCAACAGGCTGCTTGGTAGGAGGACACCCCAGAGAGC ACCTCCAATCCTGTTCTTTCTAAAAAGAGGAAACTTCCAATAACCACACT TTTCCAATGGGAAAAATATGCCCCAGTGGGTGAGCTCTCCATGCGGGAGG ACTCTGAAGTGATCACTCATGAGGGACACTTAGGAGTCAACAGAGGATTA GGTAGACTTGATAAAGGTCGGTGCTTGGGATAAGAAAGCTTGGTTTTGGG CCAGGCGCTGTGGCTCCCGCCTGAGATCCCAGCACGTTGGGAGGCTGAGG CAAGAGGATTGCTTGAACTCAGGACTTTGAGGCTGCAGTGAGCTATGACT GCACCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGCGTCAAAAG AAAAGCCAAGGCTGGGCACAGTAGCTCATGCCTGTAGTTCCAGCTACTCG GGAGGCTGAGACAGGAGAATCGCTTGAGCCTGGGAGGAAGAGGGTGCAGT GAGCCAAGATCGTGCTACTGCACTCCAGTCTGGGTGAGAGAGTGAGACGC TGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAGAAAAAAGAAGGGTCAG AGGTCAGGAAGGAGAACCTGGGGAGGGTGTGTGGGAAGAATGGAGAAATT CAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCC AAGGCAGGCGGATCACGTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAAC ATGGTGAAACCCCCGTCTCTACTAAAAGTACAAAATTGAGCTGGGCATTA TGGCAGGCACCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATA ACTGGAATCCGGGAGATAGATGTTGCAGTCAGCTGAGATTGCACCACTAC ACTCCAGCCTGGGTGACAAAGCAAGATTCTGTCTCGAAACAAAAAAAAAA AAGAGGGCCTCAGAGAGCCAGGGACCAGGGAACGATATGTCGCAGTGTTC TGAGGACAGAGAGAGGGAAGAATGGGGAGGGGAAGGAGTGGCACATGGGG TTGAGCAGAGGAGAAAGTCAGAAAGGTGGCTTGGAGAAGCCAGCAGTCTG CGAGGCTGGGGAGGATGGAGAGTGGTTTGGGGTTTGGGGTCGGGGTCTAA CGTGATCAGTTGCAGAAGCATTACACGGTGGCCTGGTTTCTTTACTCAGC CCCTGGGGTAGATCCCAGCCCCCCACGTAGGTCCCTTGGCTGCAAAAGGA AGAGGGAGTGTTTGGATGAATCTGATGATGAGCCAGAGAAGGAGCTCGCC CCTGAGCCTGAGGAGACCTGGGTGGCGGAGACGCTGTGTGGCCTCAAGAT GAAGGCGAAGCGACGGCGAGTGTCGCTCGTGCTCCCTGAGTACTACGAGG CCTTCAACAGGCTGCTTGGTAGGAGGACACCCCAGAGAGCACCTCCAATC CTGTTCTTTCTAAAAAGAGGAAACTTCCAATAACCACACTTTTCCAATGG GAATAATATGCCCCAGTGGGTGAGCTCTCCATGCGGGAGGACTCTGAAGT GATCACTCATGAGGGACACTTAGGAGACAACAGAGGATTAGGTAGACTTG ATAAAGGTCGGTGCTTGGGATAAGAAAGCTTGGTTTTGGGCCAGGCGCTG TGGCTCCCGCCTGAGATCCCAGCACGTTGGGAGGCTGAGGCAAGAGGATT GCTTGAACTCAGGACTTTGAGGCTGCAGTGAGCTATGACTGCACCACTGC ACTCCAGCCTGGGTGACAGAGCAAAACTCTGCGTCAAAAGAAAAACCAAG GCTGGGCACAGTAGCTCATGCCTGTAGTTCCAGCTACTCGGGAGGCTGAG ACAGGAGAATCGCTTGAGCCTGGGAGGAAGAGGGTGCAGTGAGCCGAGAT CGTGCTACTGCACTCCAGTCTGGGTGAGAGAGTGAGACGCTGTCTCAAAA AAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAAAGAAGGGTCAGAGGTCAG GAAGGAGAACCTGGGGAGGGTGTGTGGGAAGAATGGAGAAATTCAGGCTG GGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAG GCGGATCACGTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGA AACCCCCGTCTCTACTAAAAGTACAAAATTGAGCTGGGCATTATGGCAGG CACCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATAACTGGAA TCCGGGAGATAGATGTTGCAGTCAGCTGAGATTGCACCACTACACTCCAG CCTGGGTGACAAAGCAAGATTCTGTCTCGAAAC	A A	exon_loss_variant exon_loss_variant	HIGH	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0005 a0003c0011t0005	a0003c0011t0005g0180 a0003c0011t0005g0180	1	344	0.0029	-2782	c.545 others(15): Show c.545-217_983-218del		SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
SPDYE3_chr7_100302702_100327196	100312247	GATTGCTT others(2775): Show GATTGCTTGAACTCAGGACTTTGAGGCTGCAGTGAGCTATGACTGCACCA CTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGCGTCAAAAGAAAAGC CAAGGCTGGGCACAGTAGCTCATGCCTGTAGTTCCAGCTACTCGGGAGGC TGAGACAGGAGAATCGCTTGAGCCTGGGAGGAAGAGGGTGCAGTGAGCCA AGATCGTGCTACTGCACTCCAGTCTGGGTGAGAGAGTGAGACGCTGTCTC AAAAAAAAAAAAAAAAAAAGAAGAAGAGAAAAAAGAAGGGTCAGAGGTCA GGAAGGAGAACCTGGGGAGGGTGTGTGGGAAGAATGGAGAAATTCAGGCT GGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCA GGCGGATCACGTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTG AAACCCCCGTCTCTACTAAAAGTACAAAATTGAGCTGGGCATTATGGCAG GCACCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATAACTGGA ATCCGGGAGATAGATGTTGCAGTCAGCTGAGATTGCACCACTACACTCCA GCCTGGGTGACAAAGCAAGATTCTGTCTCGAAACAAAAAAAAAAAAGAGG GCCTCAGAGAGCCAGGGACCAGGGAACGATATGTCGCAGTGTTCTGAGGA CAGAGAGAGGGAAGAATGGGGAGGGGAAGGAGTGGCACATGGGGTTGAGC AGAGGAGAAAGTCAGAAAGGTGGCTTGGAGAAGCCAGCAGTCTGCGAGGC TGGGGAGGATGGAGAGTGGTTTGGGGTTTGGGGTCGGGGTCTAACGTGAT CAGTTGCAGAAGCATTACACGGTGGCCTGGTTTCTTTACTCAGCCCCTGG GGTAGATCCCAGCCCCCCACGTAGGTCCCTTGGCTGCAAAAGGAAGAGGG AGTGTTTGGATGAATCTGATGATGAGCCAGAGAAGGAGCTCGCCCCTGAG CCTGAGGAGACCTGGGTGGCGGAGACGCTGTGTGGCCTCAAGATGAAGGC GAAGCGACGGCGAGTGTCGCTCGTGCTCCCTGAGTACTACGAGGCCTTCA ACAGGCTGCTTGGTAGGAGGACACCCCAGAGAGCACCTCCAATCCTGTTC TTTCTAAAAAGAGGAAACTTCCAATAACCACACTTTTCCAATGGGAATAA TATGCCCCAGTGGGTGAGCTCTCCATGCGGGAGGACTCTGAAGTGATCAC TCATGAGGGACACTTAGGAGACAACAGAGGATTAGGTAGACTTGATAAAG GTCGGTGCTTGGGATAAGAAAGCTTGGTTTTGGGCCAGGCGCTGTGGCTC CCGCCTGAGATCCCAGCACGTTGGGAGGCTGAGGCAAGAGGATTGCTTGA ACTCAGGACTTTGAGGCTGCAGTGAGCTATGACTGCACCACTGCACTCCA GCCTGGGTGACAGAGCAAAACTCTGCGTCAAAAGAAAAACCAAGGCTGGG CACAGTAGCTCATGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGACAGGA GAATCGCTTGAGCCTGGGAGGAAGAGGGTGCAGTGAGCCGAGATCGTGCT ACTGCACTCCAGTCTGGGTGAGAGAGTGAGACGCTGTCTCAAAAAAAAAA AAAAAAAAAAAAGAAGAAGAAAAAAAAGAAGGGTCAGAGGTCAGGAAGGA GAACCTGGGGAGGGTGTGTGGGAAGAATGGAGAAATTCAGGCTGGGTGCA GTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGCGGAT CACGTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCC CGTCTCTACTAAAAGTACAAAATTGAGCTGGGCATTATGGCAGGCACCTG TAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGAATAACTGGAATCCGGG AGATAGATGTTGCAGTCAGCTGAGATTGCACCACTACACTCCAGCCTGGG TGACAAAGCAAGATTCTGTCTCGAAACAAAAAAAAAAAGAGGGCCTCAGA GAGCCAGGGACCAGGGAACGATATGACGCAGTGTTCTGAGGACAGAGAGA GGGAAGAATGGGGAGGGGAAGGAGTGGCACATGGGGTTGAGCAGAGGAGA AAGTCAGAAAGGTGGCTTGGAGAAGCCAGCAGTCTGAGAGGCTGGGGAGG ATGGAGAGTGGTTTGGGGTTTGGGGTCGGGGTCTAACGTGATCAGTTGCA GAAGCATTACACGGTGGCCTGGTTTCTTTACTCAGCCCCTGGGGTAGATC CCAGCCCCCCGCGTAGGTCCCTTGGCTGCAAAAGGAAGAGGGAGTGTTTG GATGAATCTGATGATGAGCCAGAGAAGGAGCTCGCCCCTGAGCCTGAGGA GACCTGGGTGGCGGAGACGCTGTGTGGCCTCAAGATGAAGGCGAAGCGAC GGCGAGTGTCGCTCGTGCTCCCTGAGTACTACGAGGCCTTCAACAGGCTG CTTGGTAGGAGGACACCCCAGAGAGCACCTCCAATCCTGTTCTTTCTAAA AAGAGGAAACTTCCAATAACCACACTTTTCCAATGGGAAAAATATGCCCC AGTGGGTGAGCTCTCCATGCGGGAGGACTCTGAAGTGATCACTCATGAGG GACACTTAGGAGTCAACAGAGGATTAGGTAGACTTGATAAAGGTCGGTGC TTGGGATAAGAAAGCTTGGTTTTGGGCCAGGCGCTGTGGCTCCCGCCTGA GATCCCAGCACGTTGGGAGGCTGAGGCAAGAGA	G G	exon_loss_variant exon_loss_variant	HIGH	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0188 a0003c0011t0002g0188	1	344	0.0029	-2782	c.763 others(16): Show c.763+377_1201+376del		SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF665_chr19_53157424_53198358	53185916	AGGGTTTT others(2775): Show AGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTAATTTATTTTTTTT TTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCA TAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTC TCTGGTTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTGTTTGTGTC CCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTG CCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCAT TTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGA TAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTAC AGAACAAAATGAAAAGTCTCCCATGTCTACTTCTATCCACAGAGACCCGG CAACCATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTC CACAAAACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCA CACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAAGCGCCCCTCACCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCACCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGACGGCCGGGCAGAGGCGC CCCTCACCTCCTGGATAGGGCGGCTGGCTGGGCGGGGGGGCTGTCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGA CTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGACCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTTCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGACTGGCCAGGCGGGGGGCTGATCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCC CCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGG CCAGGCGGGGGGCTGATCCCCCCAACTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGTCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCCTCCCTCCCG GATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCTGGGCGGA GACGCTCCTCACTTCCCAGACGGGGTGGTTGCCGGACGGAGGGGCTCCTC ACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTTTCCTCACTTCTCAGA CGGAGCGGCCGGGCAGAGACGCTCCCCACCTCCCAGACAGGGCTGCGGCC CAGCAGAGGCGCTCCTCACATCCCAGACAGGGCGGCGGGGCAGAGGTGCT CCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCT AGATGGGATGGCGGCGGGGAAGAGGCGCTCCTCGCTTCCCAGATGGGATG GCGGCCAGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGA GGGGCTCCTCACATCCCAGACGATGGGTGGCCAAGCAGAGACGCTCCTCA CTTCCCAGACGGGGTGGGGGCCGGGCAGAGGCTGCAATCTCGGCTCTCCG GGAGGCCAAGGCAGGCGGCTGGGAGGTGGTTGCAGCGAGCCGAGATCACG CCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCC ATCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGG CTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACCCCGTCTCCACC AAAAAAAAAAACGAAAACCAGTCAGGCGTGGCGGTGCGCGCCTGCAATCG CAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTG AGCCGAGATGGCAGCAGTACCGTCCAGCCTTGGCTCGGCATCAGAGGGAG ACCGTGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGCCCCTTTGTTTCTTATAGG AGATGCTGGGTAATCCAGATTAAATTTTTGACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(383): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0002c0002 a0002c0003 others(18): Show a0001c0001 a0002c0002 a0002c0003 a0002c0012 a0002c0013 a0003c0004 a0003c0009 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0008c0014 a0009c0011 a0010c0010 a0011c0016 a0012c0015 a0013c0020 a0014c0019 a0015c0018 a0016c0017 a0017c0021	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(54): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0002c0002t0002 a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0002t0034 a0002c0002t0037 a0002c0003t0002 a0002c0003t0003 a0002c0003t0007 a0002c0003t0010 a0002c0003t0011 a0002c0003t0020 a0002c0003t0035 a0002c0003t0036 a0002c0003t0039 a0002c0003t0048 a0002c0003t0049 a0002c0003t0050 a0002c0012t0019 a0002c0013t0002 a0003c0004t0004 a0003c0004t0042 a0003c0004t0044 a0003c0004t0045 a0003c0009t0004 a0004c0005t0001 a0005c0006t0001 a0006c0007t0006 a0007c0008t0001 a0008c0014t0018 a0009c0011t0006 a0010c0010t0006 a0011c0016t0001 a0012c0015t0001 a0013c0020t0041 a0014c0019t0016 a0015c0018t0002 a0016c0017t0040 a0017c0021t0038	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(351): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0261 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0371 a0001c0001t0005g0073 a0001c0001t0005g0093 a0001c0001t0005g0131 a0001c0001t0005g0134 a0001c0001t0005g0160 a0001c0001t0005g0237 a0001c0001t0005g0248 a0001c0001t0008g0034 a0001c0001t0008g0146 a0001c0001t0008g0173 a0001c0001t0008g0174 a0001c0001t0008g0308 a0001c0001t0008g0310 a0001c0001t0014g0251 a0001c0001t0014g0300 a0001c0001t0015g0018 a0001c0001t0022g0287 a0001c0001t0023g0359 a0001c0001t0024g0192 a0001c0001t0025g0193 a0001c0001t0027g0284 a0001c0001t0028g0313 a0001c0001t0029g0142 a0001c0001t0030g0302 a0001c0001t0031g0166 a0001c0001t0032g0101 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0019 a0002c0002t0002g0030 a0002c0002t0002g0035 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0152 a0002c0002t0002g0158 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0191 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0306 a0002c0002t0002g0319 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0348 a0002c0002t0007g0036 a0002c0002t0007g0190 a0002c0002t0007g0223 a0002c0002t0007g0258 a0002c0002t0007g0266 a0002c0002t0007g0324 a0002c0002t0009g0039 a0002c0002t0009g0069 a0002c0002t0009g0285 a0002c0002t0009g0286 a0002c0002t0012g0259 a0002c0002t0012g0334 a0002c0002t0012g0345 a0002c0002t0016g0256 a0002c0002t0017g0043 a0002c0002t0017g0045 a0002c0002t0021g0028 a0002c0002t0034g0180 a0002c0002t0037g0260 a0002c0003t0002g0215 a0002c0003t0003g0002 a0002c0003t0003g0009 a0002c0003t0003g0010 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0029 a0002c0003t0003g0064 a0002c0003t0003g0080 a0002c0003t0003g0108 a0002c0003t0003g0115 a0002c0003t0003g0116 a0002c0003t0003g0118 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0003g0121 a0002c0003t0003g0123 a0002c0003t0003g0125 a0002c0003t0003g0126 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0157 a0002c0003t0003g0175 a0002c0003t0003g0177 a0002c0003t0003g0178 a0002c0003t0003g0182 a0002c0003t0003g0184 a0002c0003t0003g0211 a0002c0003t0003g0220 a0002c0003t0003g0294 a0002c0003t0003g0326 a0002c0003t0003g0372 a0002c0003t0007g0214 a0002c0003t0010g0021 a0002c0003t0010g0107 a0002c0003t0010g0253 a0002c0003t0011g0117 a0002c0003t0011g0154 a0002c0003t0011g0325 a0002c0003t0020g0272 a0002c0003t0020g0337 a0002c0003t0035g0176 a0002c0003t0036g0122 a0002c0003t0039g0230 a0002c0003t0048g0150 a0002c0003t0049g0212 a0002c0003t0050g0257 a0002c0012t0019g0135 a0002c0012t0019g0270 a0002c0013t0002g0153 a0002c0013t0002g0210 a0003c0004t0004g0008 a0003c0004t0004g0025 a0003c0004t0004g0037 a0003c0004t0004g0047 a0003c0004t0004g0048 a0003c0004t0004g0097 a0003c0004t0004g0151 a0003c0004t0004g0181 a0003c0004t0004g0231 a0003c0004t0004g0243 a0003c0004t0004g0252 a0003c0004t0004g0262 a0003c0004t0004g0263 a0003c0004t0004g0264 a0003c0004t0004g0335 a0003c0004t0004g0336 a0003c0004t0004g0368 a0003c0004t0004g0369 a0003c0004t0004g0370 a0003c0004t0042g0042 a0003c0004t0044g0274 a0003c0004t0045g0347 a0003c0009t0004g0217 a0003c0009t0004g0218 a0004c0005t0001g0003 a0004c0005t0001g0355 a0004c0005t0001g0356 a0004c0005t0001g0360 a0004c0005t0001g0362 a0005c0006t0001g0033 a0005c0006t0001g0373 a0005c0006t0001g0374 a0006c0007t0006g0011 a0006c0007t0006g0139 a0007c0008t0001g0141 a0008c0014t0018g0026 a0009c0011t0006g0076 a0009c0011t0006g0213 a0010c0010t0006g0271 a0010c0010t0006g0338 a0011c0016t0001g0317 a0012c0015t0001g0349 a0013c0020t0041g0137 a0014c0019t0016g0189 a0015c0018t0002g0159 a0016c0017t0040g0179 a0017c0021t0038g0279	386	408	0.9461	-2782	c.-46 others(17): Show c.-46+4614_-45-2974del		ZNF665	ENSG00000197497.11	transcript	ENST00000396424.5	protein_coding	1/3						chr19	TogoVar
PPP1R15B_chr1_204398381_204416817	204412721	TTTGAGAC others(2771): Show TTTGAGACGGATTCCCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAAT CTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCC CAGCCTCCCTAGTAGCTGGTACTACAGGCGTGTGCCACCACGCCCAGTTA ATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGATG GTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGTGCTCGGCCAATTTTTGCATATTTTT ATAGAGACAGGGTTTCGTCGTGTTGCCCAGGTTGGTTTCAAACTCAGCTC AAGTGATCTGCCCGCCTCGGCCTCCTAAAGTGCTGGGGTTACAGGCGTGA GCCACTGCGCCCAGCCTGACAGATATTTCAGGGTTCTCCTATTGTTCAGT ACTATGTAGACCATCAACCTGAGATCTTATGTAAAAGTTGGGCAGTGCTG CGTACATACATGTCTGGTGTGGGGCAAACTAAACTCACAGAGAAGCAGCT CAGTCCCCAGAACTATTTACTCTCTTTTATGCTTCCAAGCAGGCAACATA TTCAATTCATATTTATTAATACTTCCTTAGCAACCAGAACCACAGAATAC AACAGCCAAAAAGGAAACATGGACCACTATCCTTTGAAAAAAAAAATGGC TGGTAATTTTAATTGCTGTATTTGATTATCTCTTGTGAGTTTGGTCTTAG TTCATTTCTTTATTTCTGCTAAAACTCTGTAATAGATACCCCTGAAGTCA AGTACCAATTACAGAGGGAGGGTGGCAGTTATGAGCACTAGGGACAGCAG AAAAATCTTTAGGGAGCTGGGAGGAGACCAGCAGCTCCTCCTGCCTTACT GGGCCTGTTCAAGGAACAACCACTTCTTTTTTTCTTTTTTGAGACGAGTC TCGCTCTGTTGCCCAGGATATAGTGCAGTGGTGTGATCTCTGCTCACTGC AACCTCCGCCTTCCTGGGTTCAAACTATTATCCTGCCTCAGCCTCCCTAG TAGCTAGGACTACAGGCACATGCCACCACGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGAGTTTCACCATGTTAGCCAGGATGGTCTCAATTTCCT GACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCACGTTCGGCACAACCACTTCTTTCTAGGAAGCCAAGAGGA CCTCAGTTTCTGTTGTTTATCCTGTATTATTATCCATACCTCTGGAAAAT CTCAATCCTATGAACTTCAGAAAAATGTATTAATAATAGAGGTCAGTTTC ATAATACAGATCCAAGTAGGCAAATTTGTTACCAGAAGCCTGTTTCTTGT AAAGTGAGGCTAGTAATTCCTCTTTCAATGGATTGGTAAGAAAACTAAGT TTTCTCAGTGCCTAGCCTAGACAGAGTAGGAGCACAAAGATTAGCTAATA TTCTTGTGTGGTTCTGCTTTACAGTCTTCAGTTGTTTCCTCATTGCCTGC AGAATAAAGGCTCTATGCAGCCTGCCCTCCCACTGTACTCTTCCAGCCTC CTCTGTCACTTGTCTTCATGCATGTTATATTCTAGGAACATTGGACTTAC CTGTACTCCTTGCTTCCTGCCTTTACTCATGCTGTTTCTCAGCCAAGAAA AGCTTCACCTTTCCTGTTACATACCTACTCATCCTTCAAGATCCAATTCA AATGTCAGCTTCTCCTTGAAGCCTTCATTGACCTTTCCAGCCAGAATTAA TGGATCCCTCACAGTACTTATATTATTCCGCTCTATTAGAGCACTTAACA CATTGCATTACATATACCTGTAAGTATTCTCTCTTGCTGGTCCCTGAATT CCTTGAGGGCTGTATCCAACTATCTAGAAAAGTGGTTCCCAAAGTATGGT CTGGGCACCCCTGGGGATCCTCCTTTGAAACCCTTTCAGAGGGTCCTTAA GGCCAAAAATATTTCCATAATAATTCTCAGCTTTTTTAACTCTCATTTTC TCATGTATGTACAGTGAAGTCTTCTGGAAGATACATGGTGTGTGAACTGT CAACAGAATGAATGCAAAAGCAGATAGATACGAGATTCTAGCTGTTTTAT ATTAAGCCAGATACTAAAGACATTTGGAAAAAATGTAAGACAATGCCACT TTTCTCACTAAGCTTTTTATGTTTTGAAAAATAATTGAACATTACCAGCC TGGGCAACATGGCAAAACCCTGTCTCTACAAAACATACAAAAATTAGCCA GGCATGACGGTGCACGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGG GAGGATTGCTCAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTG CCACTGCACTCCATCCTGGGCAACAGAGTGAGATCCTGCCTCAAAAAAAA AAAAAAAATTAACATGTAATTGGTTATTTTTAAATGAATTTTAAAATTTT ATTGTATTTTTCATTAAAGACAGAGTTTCATATGTTGCCCAGGCTGGAGT GCAGTGCGTATTCACAGGGGCAATCACAGCACACTATGGCCTTGAACTCC TGGGCTCAAGCAATCCTCCTGCTTCAGCCTCCCAAGTAGCTGGAACGACA GGTGCACACCACCACACCCAGCCTAAATGAACATTTTTCAGTTCCTCGGT CTTGAATTCATAAATAGGAAATATTGATAGCTATAAACCACATAAAGGTA TAAAGATAGTTATTTGGGGTCCTTAGTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	394	0.0025	-2778	c.-40 others(11): Show c.-4088_-1311del		PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding					905		chr1	TogoVar
IRAK2_chr3_10159919_10248745	10184487	TAGCCTTC others(2766): Show TAGCCTTCTCTAATGGCCCCAGTGACCCAGGGCCTCTCAACCAAAGAGAA GCTGTCTGCATCCCCTTCCCCCAGCACACCCAAATTCCATGGTGGAATTT GAACAGGAAGCCACAATAAAAAACTCCTACTTGAGATGAGAAACACGAGG TAGTTACTTGTCTATAGCAGTCAACAAATCTGGCAGAGGAGCAATTGTAA AACTCCCTTCCCTGTTTTTTTGTGGAGTTTTTGTGTGTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATT CTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCAT GCCCGGCTATTTTTTTATTTTTTTTTATTTTTAGTAGAGACGGGGTTTCA CCGTGTTAGCCAGGGTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCTGCGCCGGGCCAAAACT CCATTCCCAGGTAAAGGAGTAAGTTCTTTGCTTGGCCCATCTGGCAGCCC TTGGTTCTCAGTGATCTGTGATTCGCGAAGCATCCTAAGCATCAGTATCA CCTGGGAACTTGTTAGAAACGCAAATTATTGGGCCCCACCTCATCTGCTG ATTCGGAAACTCTAGTGGTGAGGCCCAGCAGTCTGGCTTAAGTTCCCCAG ATGATTCTGATGCACCTTGAAGTTTAAGAACCACTGCTCGGCCCGGCGCG GTGGCTCATGCATGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCGGAT CACCTGAGGTCGGGAGTTCGGGACCAGCCTGACCAACATGGAGAAACCCT GTCTCTACTAAAAACACAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTA ATCCCAGCTACTCAGGAAGGCTGAGGCAGGCGAATCGCTTGAACCTGGGA AGCAGAGATTGTGGTGAGCCAAGATCGCACCATTGTACTCCAGCCTGGGC AACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAACCAC TGCTCTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTTGTGA GGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACATCGTCTCTACTAAAAATACAAAAATTAGGCCAGGC GTGGTGGCTCAGGCCTGTGATCTCAGCTACTTGGGAGGCTGACGCAGGAG AATTGCTTGAACCTGGGAGGTGGAGGTTTGCAGTGAGCTGAGATTGTGCC ACTGCACTCCATCCTGGGCGACAGACTACACTCCGTCTCAAAAATAAATA AAAATGGAAATACAAAAATTAGCCAGAGGTGGCGGTGGGCACGTGTAATC CCAGCTACTCGGGAGGCTGAGGCAAGAGAATCTCTTGAACCAGGAGGCAG AGATTGTTGGGAGGCAGAGATTGCAATGAGCCAAGATTGTGCCACTGCAC TTCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAACAACAACAACAACAA CAACAAAACACTGCTCTGATACCTGGTCCTCCGTGATTTCTGGGAAGTGG AGCTTCCACGTTCATTATTCTCTGTGGCCTTATCTGAAACGGAACTGGAA AGAATGTGCTTTTATTTAGGGCTCCTTGGCTTTCACAAACCACCTCCTGC TGGTGTGGGTTTGGGGACTTGAGTGGAGCTGTAGGAGTCAAATAATCTCC AGCTTTTATCAGATTCAGCTGTGGTTTCTTTGGCAACACAGTTCTGTCAA AAAACTAGAAGCTTCTGCTCTCTTGGCTTCTAATCAGTTCTGCTGTGGTA ATCACAGCCGAAGATCCAGCCTAGACACATCTTAATTCTCAGCCCTGAAG TGTTTGGTCTGTTATTTCCTGGCTTCTGCGCTTAGCCTCGCCTCCTCACC CCCCAATTTAATGTGCTTACCTGGAGCTTCCCTTGAAGCCACCTGAAACA GTAAGTTGGATGGGAAGGCAGGACTCTTAATTTGACTTTTGCCTTTGAGC TCTCTGTATTTGGCAGAGAACCTCTTCTGAGGGTCAGTAGTAGAACTCAG AAAGGTGGAGCAGAGATTAGATTATTAGAAAGGTTAGTACCACAGTCTTC CCTGCTGCTGAGGCAGACTCTTGAGATCCCCCAAGATGGGGATTCTTGTT GACTTGGATTGTTAGCTACAGGCTGGGTCTTTGTTTTCTTTCTTTCCTTT TTTTTTTTTTTTTTTTTTAAATAGAGACAGAATCTCGCTTTGTTGCCCAG GCTGGAATGCAGTGGGGCAGTGGTACAATCTTAGCTTACTGCTGTTTTGA ACTCTTGTGCTCAAACAGTCCTCTTGCTTCAGCCTCCCAAGTAGCTAGGA CTATAAGTGCAAACCACCATGCCCAGCTAACTTTTTTTTTTTTTTTCAGA TTTTGGAATTTTTGCATTATATCCTTAGTGGCTGAGCATCCCTAATTCGA AAATCCAGTATCTGAAGTGCATTTCTTTTGAGTGTCATGTTGTTGCTCAA GAAGTTTTGGATGTTGGAGCATTTTGGATTTCAGGTTTTCAGATTAGGGT GACTCCAACTGTTATCACTATTTTCAGTCCCTCTATAGGTTGGCTTTGCA GTGTTAACAAATGTACTTACATTTCTTCCATAAGCTATAGGCAATGTCTC CCGATGCCCCATTTTGTAAAATGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02717.hp1 others(4): Show HG02258.hp1 HG02258.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 NA19030.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0003c0004t0001 a0001c0001t0001 a0001c0001t0007 a0003c0004t0001	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0279 others(4): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0007g0059 a0003c0004t0001g0017 a0003c0004t0001g0018	7	292	0.0240	-2773	c.277 others(17): Show c.277+6472_277+9244del		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
OTULINL_chr5_14576792_14621180	14589014	GGAGACAC others(2766): Show GGAGACACATGGACGGGATCCTGATTACATGATACATTTCGTTCATTCAA GAAATATGTATTAACTGTCTATTGTGTACTTAGGCACTCAGAAAGCAGAG TGAAAACAGTCAGTCCCAGTCCTTAAGGCATTTACTGTCTACGCAGGGAG ACAGACGCTAATCAAACACAAACACAATTGTGTAAACTGTGACAAGTGCT GTGAAAAGGACACCGTGTGCTATGAGAGAGGAAAACAGGGATTTGCTCAA GCCTGGAGGTTGGAAACAGAGAAGTGATGTTTGAGCTGAGAGCTGGAGAA TGAGTGGAATGAACTAGGGCATGGTTAGAAGGAAGAATGTTTCAGACAGA GGGAAGAGTACAGGCAAAGCAAGGTAGGGAGGCAGGCGTGAGCTCTAGGA GGAAGTGAAGGCACTCCTCCTATTGGAGCAAGGGGAGGAGGTGAGAGAAG AGGGAGGGGTCAGGGTCAGACCATGAGGGGGACTGGGCGTGGGTGACCAA CTGTCCCAGCTTGCCTGGACTGAGAGATGTGCCAGTATGTGGGGCTTTCA GTGCTAAAACTGGGAGAGTCCCAGGCAAACCAGGAGGAGTTGGCCACCTT CCCTGGAGGCCAGGGTAATGGTCAGGTTCCTTTCTTTATTAATTTCAGAG AAGTTGGCCAAGCACGGTGGCTCATGCCTGTCATCCCAGCACTTTGGGAG GCCGAGGTGGGTGGATCACTTGAAGTCAGGGGTTCGAGACCAGCCTGGCC AACATGGTAAAACCCCTATTTCTACTGAAAATACAAAAATTAGCCAGGTG TGGTGGCAGGTGCCTGCAATCCCAACTATTGGGGGGCTGAGGCAGGAGAC TCACTTGAACTTTGGAGGCAGAGGTTGCGGATCATGCCACTGCACTCCAG CCTGGGCGACAGAGTGAGAATCAATCTGAAAAAAAAAAATTTTTTTTCAG AAAAGTTCCTTTTTAGATAGGCATAGCTTCCAGCCATAGAAAAACAACAG CTGTGACTAGTAAAAGTAACCGCTTACTTTGGCCAAAGGGAAATGGGCAC AAAACAGACACACAAAACAGACACAACACTTACTTTTAGTTGGATTACTT GACCAGTAAGATTTTTCTTTATCTGGACTGATTTCTCCTAATGGTAACTT TGGAAATTGATTGGCATCTGATGATGTATTTGAGATAACAGAAGCAGCTA AGGGTAGGGGATGCTATTACTCTACAGCAGGATTTCTCAACACTGGCAAT GTTGGAATTACTGGGGAGCTTAAAAAAGATACCTGGGCCCCAGCCTAATA AATCTGAAAATCCACTGGAGCCAGGGCCAGGGTCCTGGGGGTCTTGATGG AATGCAGATTATGTTTCCAAGGGGTTTGAGAATCTATAGTTCTAAGAAGT CCCAGATGGTATTGATGTTGCTGTCCTGTGGACTTTGAGTAGCAATGTTC TATAAAGTTTGATGAGGTTATTTTTGAAGCCACTGGTCTCCCTTTAGGAG AGCAGATCTATAGGCCCATGTAAAGGTATATGAGTCCATGATAGGAGACA GGGGTTAAAGACTTAGGGCGGGGAGGTGGCCAAGGAGGCTTCTGCAGTGT GGTCCCATCAGCAAGATCACACTGAACCCAGGGGGACAAATCTTGACTTC TCAGTTGGTCCCAGGGGATGGGTGAGAGGTTATGGGTTGAGTTGTGGCTT TATAAGCCACTGACTGTCACTACTATTCTTGGTTACAGAAGAACCAGCTC CTGAGGTCTCTGGCTAGGATGCTACTATAGGTAATGACCATTTTTTACCT TTCTGACAATTTGTTAGGGTCCTTTCCAGCTGACATCAGGGGCTAGCAGG ATGTGGGTCTTTCCTACAAATGAGAAAAGCCATGGAAAGAGTTTTACATT GTAAAGAGTTTTGCATTGTAAAGAGTTTTGCACAGGAGATGATACATCCA TCGAATGTTTAAAAAACAAACCCACACTGGCTGTGGAGTAGAAAACAGAA CTGGGGAAGGGAGACCAATCAAAAGGATTAGTAACTATTAGTGATGGTGC CCAAATGATTCTGAGTAATGGAAAAGTCACCCCCAGGGCAAAAGGCCTGA GAGTTGAACCAGACCACGTGCCACCAAAGCCCTGGCAGGTCAAAGCAGTG AGCCAAATCAGTAATGAAATCTAGCAGAGATAAATGTCAGGTCCTGCCTG GGTCTAAAGATCCCAGAACTGGCCCACATGATCTGGATAATCCTTTGTTT CCCTTCCCATGTTCTGGACTGAAAGGTAGATACAGATGTCAGAGATTAAA AATATATTTTTCTAAGTCAGCTCAGTGACATAAAATCCACGTGTCTTAGT TGTGTGGCCAGTTGGGCTTGCTAGCAGTGCCCAAGCTGAACTCCATCCTA AAGTTCTAGGCCTCCCTCCCAAGGAGAGGGCAGGCCCAAGGATTCCTTCT GTGCGGGCAGGTCTGTGGGGTGAAAGGGGCTGAGCTGGGCATGCCATTTT AAAAAAATCTGCCACTCAGATCAATCTCTCACCTTCAGGAAGGAGTAAAG GCGGTAGTAGGGGAGCCAGAACCCCACCTCCAGGAAGGCCTCTCCACCGG GAAACTTGAGAGTGAGTGAAACCCCTGGCCCTCTCTTCCCTTCAGAAGAT GGGGAAACACACCCCAGCACAGGTCCAAAGGGCTTTAAGCTGACAGCAGG TTGAATGTGAGTCAGTAGCTTTTGGGTTGTTTGTAGCTGTGCAGTACAAT CACAGGCTGCATTGCTGTGAATGT	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	380	0.0026	-2773	c.64+ others(15): Show c.64+7057_65-9178del		OTULINL	ENSG00000145569.6	transcript	ENST00000274217.4	protein_coding	1/7						chr5	TogoVar

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Search Results (Total: 1673 hits)