Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BMP8A_chr1_39486636_39534869	39532542	CCCCAGCA others(2320): Show CCCCAGCACTTTGGGAGGCCAAGGTGCGCGGATCACAAGGTCAGGAAATT GAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAA AAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGA GGCTGAGGCAGGAAAATGGCGTGAACCTGGGAGGTGGAGGTTGCAGTGAG CTGAGATCGTGCCACCGCACTCCAGCCTGGGCGACAGAGTGAGACTCCAT CTCAAAAAAAGAAAAAAAAAAGAACTATTAAACAAGTTTAGCAATGTTGC AGAATACAAAATCAATATACAATTGATTATATATATTTTTGTAGAGATGA GGTCTCATTATGTTGACTCGGGCTGGTCTCAGACTCCTGGACTCAAGTGA TTTTCCCACTTCAGTCTCCCAACGTGCTGGGATTATGAGTGTGAACCACC ATGCCTGGCCTGTTTTGTGGTTTTCAAAGTATAAGCTGTATACATCTTTT AAACTTATTCCTAAATATTTTATTCTTTTTTATGCTATTGTAAGTATAAT TGTTTTTCTTTTTATTCTGTTTTCAGGTTGTTCATTGCTGATGTATAGAA ATATAATTGCTATATCTACGGCCAGGCACGGTGGCTCACACCCGTAATCC CAACACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAG ACCATCCTGGCTAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAA ATTAGCTCGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATGGCGTGGACCCGGGAGGTGGAGCTTGCAGTGAGCTG AGATGCTGCCACTGCACTCCAGCCTGGGCGACATAGCAAGACTCTGTCTC AAAAATAAGAAAAGAAATATAATTGCTATATATATATGTGTGTGTATTTT TTTTAGAAGAGTCTTGCTCTGTTGTCCAGGCTGGAGTGCAATGGTGCAGT CACAGCTGTCTACAAAAATATTTTTTAAAATTAGCCAGGTGTGGTGGTGT GTGCCTATAGTTCCAACTAGTTGTAAAGCTGAAACATAAGGACCACTTGG GTACAGGAGTTCCAAGACTGTGGTGAGCTGTGATTGCACCACTGCACTCC AGCCTGGGCAATACAGTGAGACCCTGTCTAAAAAAAAAAAAAAAAGAATG AGAGAAACTATTTGCAAATTATACATCTGATAAGAGACCTGTATCTAAAA TATTTAAAGAATTCTGACTCGCTAGGCATGGTGGCTTACATCTATAATCC CAGCATTTTGGGAGGACAAGGTGGCAGGATTGCTTGAGCCCTGGAGTTCG AGACCAGCCTAGATAACATAGCAAGACCCCATCCCAATTAAAAAAAAAAA AAAAAGAAAACCAAAGAACATTACTGAAAAACACTGAAGAAGACCTAAAC AAATGAAAAGATATCCTGTGTTCATGGATCAGAAGACTTAATATTGTTAA GATGATGATACTCCTAAATTCTTCACATTCAGTGCAATCTGTATTAAAAT CCTAGCTGGCTTTTTTCATACGAGTTGATAAGCTTATCCCAAAATTCTTA AGAAATGTAAGAGACTCAGGATAACCAAAACAATCTTGAAAGGAAAAACA AAGTTGGAGGACTCGCATTTCCAGAATTAAAAATTTACTACAAAGCTATG GAATTTAAGACACAGTAGTAATGGCCTAATAACAGACATACAGATCAACA AAATATAATTTAGAATCCAGAAGAAACCCTTACATTTATGGTCAACTATA TTCACCAAGGATACCAAGACAATTAAACAGGAAAAAAACTAGCCTTTTCA ACAAATGGTGCTAGGACGACTGAAAATCCACATGTAAAAGAGTAACGCTG GACCACTTTCCTCACACTATACACAAAAATTAACTTCAAATGGAGTAAAG ACTTCAGTGTAAGAGAGAAAACCATAAAATACTTAATAGAAAGTGTAGGA GTAAATCTTCATAATCACTACACCAAAAGTACAAGTGACAAAAAAAGATA AATTAGACTTTATCAAAATTAAAATATTTTGTGCTTCAAACGACGCCATC AAAAAAGTGAAAAGACAACCTATAGAATGAAAGAAAAGGCCGGGCGCAGT GGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCA CTTGAGGCTAGGAGTTTGGGACCAGCCTGGGGAACGAAGTGAGAGCCCCA TCTCTACAAAAAATAAGAAAAAATTAGCCAGGCATTGTGGTGCATGCCTG TAGTTCCAGCTACTTAGGAGTCTGAGAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp2 others(27): Show HG00642.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp2	a0004 a0008 a0013 others(1): Show a0004 a0008 a0013 a0019	a0004c0004 a0004c0008 a0008c0010 others(3): Show a0004c0004 a0004c0008 a0008c0010 a0008c0032 a0013c0018 a0019c0036	a0004c0004t0004 a0004c0004t0020 a0004c0008t0004 others(8): Show a0004c0004t0004 a0004c0004t0020 a0004c0008t0004 a0004c0008t0011 a0004c0008t0020 a0004c0008t0058 a0008c0010t0004 a0008c0032t0049 a0013c0018t0020 a0013c0018t0052 a0019c0036t0061	a0004c0004t0004g0010 a0004c0004t0004g0025 a0004c0004t0004g0028 others(18): Show a0004c0004t0004g0010 a0004c0004t0004g0025 a0004c0004t0004g0028 a0004c0004t0004g0079 a0004c0004t0004g0081 a0004c0004t0004g0105 a0004c0004t0004g0109 a0004c0004t0020g0080 a0004c0008t0004g0085 a0004c0008t0011g0009 a0004c0008t0011g0084 a0004c0008t0020g0083 a0004c0008t0058g0088 a0008c0010t0004g0029 a0008c0010t0004g0104 a0008c0010t0004g0107 a0008c0010t0004g0110 a0008c0032t0049g0106 a0013c0018t0020g0100 a0013c0018t0052g0099 a0019c0036t0061g0257	30	362	0.0829	-2327	c.67 others(11): Show c.6745_*9071del	BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding		2674		chr1	TogoVar
IL3RA_chrX_1331785_1387689	1373856	CATCTCCA others(2320): Show CATCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAACCAGCCCTGCCCACA CCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTT TTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAAAC GGACTAAGACATCCCATAAAAAGGAGATGAGGACACAGACACACACGGAG GGACGACCCTGTGGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAG AGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCC AGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCA GCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATA AGAAGAGACGAGGACACAGACACACACAGAGGGATGACCCTGTGAGGGCA CAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAAC CAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGG AGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGA CAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGAC ACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGC GTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACAC CTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTT TGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATG GACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGG ACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGA GGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCA GCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAG CCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAA GAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCAC AGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGAGGACA CAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGT CTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCT GGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGAC GACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGG GGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGC CTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCC TCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGA AGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACAC AGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACA CAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGT CTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCT GGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTG TTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGA CTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGG GACGACCCTGTGGGACACAGAAGACGGG	C C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	115	0.0087	-2327	c.875 others(17): Show c.875-4802_875-2476del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
NEU4_chr2_241804193_241822413	241805291	TCCCCCCT others(2318): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGAC CTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGC CAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCTTCCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	319	0.0031	-2325	c.-39 others(11): Show c.-3986_-1662del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3901		chr2	TogoVar
NR3C2_chr4_148073764_148447414	148178145	CTGGCAAA others(2317): Show CTGGCAAACATGGTGAAACCCTCATCTCTACTAAAAATTAGCTGGGTGTG GCGGAGCACGCCTGTAATACCAGCTAGTTGGTAAGCTGAGGTATGAGAAT CACTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCTGAGAATGCGCCACCT CACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTGGAAAAAAGCCTTCA GTAGTTCTGTTCCAAGAAGCATGAAGCTAATATTTCGCTTTGATAATCTG CTTATTGAAAACTGATTTTTTTTCACTTTTAAATGTATGGATAACATAAA ATACGTAAATAAAAATTAGGATATTGAAAATTTTGCCACGATTTCAAGGA TGTTCTGCAATTAGCAGATGCCTGTAACTGTTATGGGTTTGTAGTAGAGA TGTGTTTATTATACTCTGATTGTTACAGTCACAGTTCCTTTCTGAAAAAT TGGGTCAAAATGTTTCTCAAAAGGTTCTCCCGCTTTCTACCAAAGGGCCC TGTGATCTGACCATACCAGCCTGGGTGAGGAAAGGGCAAGGGGTCAAAGG CAGACATTGTCTATATTCTCTCAGCCCAATCGGAAGCCCTGTTCTGGGTG GTGACTGACCAGTTAATCTGGACCCTCCTCTTGGGAATTTTGAATGCAGG ACACTCAGGTGTCAATGACACTGAGAGATAGGCAGAGAGAATATATTAAG TAGAAACCTGTACTGAAAACCACGAGGATGCAAAAGCAACATGTTAGGAC AAAGAGAGGTAGAGTGAAAATAGCAGAAAGAAGCAGGTAAAAAAAAAAAA AAACAAAAAAAAACAACAAAACAAAACAAAGAGAAAGTCCTAGAAATTGA AAGCCTCTTATATCCTGAGTGATATTCCAGCAGTTCACAAAGACTGTGCA ATTATTAATACTGTAATAAAACTCCATTATCTGCAGTGACCTGAAATAAT GTAACAATGTGAGGTGTCATGAACAAAAACCACAAAACGATTTTAACAGA GTTAGCAGTTGTGTATTACAGAAAATATCAGTGAGTGTGTGAAACTGGGA GGTTGCTGGGGGTCCTGGCCCAAAGAGAACTGTGTATTGAGGATGCTACT TGGAAAGAGAAAGGACAGTTCGGATTATAGGTCTCTTGAGACCACCGAGG ACAAATGACAAGATTTCCTATGCCCAAAAAGTCTGAAATGCTAAGCTCTC AGGCCCTTTAAGGAAGGCTAGAATGACAATCTACCAGGACAGACTGCAGT GAAAAAGGTAAAGGAAAACTGAAAGCAACAGAGGGTATCTGTATACCCAA TTTTTCCAACATCCCTGAATTTTATATTTAAAAAGACATAAGAAAAGCAG ACTCCTTGGGTAAGCTCAGCAAGGCATGAGTGAGTTCATAAAACTGCATG TATTTCTGGGGAGGGATGAACATTGGCATTCAATGCCTGCACTGCTTCTG TTCTAAGATGTCATCATTCACAAAATAAGACACCAATTTAATGAGAGTTT TGAAGGAAACTAACAAAAATTAGATGTATATATTGAGCGCAAATTATAAT CACAAGAGTTAAAATTTAAAAGAAAAAAAGTCTTTAAAAGAGATACAGCA AATTCTTTTAAATTCTATCTGCTTTAGAGCCAATCCTGAATTTCCTCCAT GAAATTCTGCAGTGTAAAAACACCAGTTGTTTAATTCAACAGTTATATTA CTATGACAATTAATATGGCTTAATTTATATGTGAAGATGCAAAAACCACA CTTTCACTGACTTATAAAAATTTATTCTTTCCCAACTTTACTGTTCAAAA GTCCCATTGAAATTCTTATTGTCTATAAGCAAGGAGAATGGAAAGAAAAA AAATCTGAGGAATAGTATCTCTTTTATAAAACTCAATACACTTGGGCTTT CTAAACTTCTACAACTACTGCATATCCTGCCTTGGGAGACCCTTTAAAGA CATAAAAATTGTTTCTCTTATTGGATTTCAGATATTAAACCTATTCTCTT GCTGGTGTTGATCCTGTAATTTCTCTCACCAGACCCACACTGTGAGTTTT GCAGGTGACCATGCCAACTAGTTGTAACAAGTTGCTGGCAGGTAAAGCCA ATTTTCTTCAAGTAAAAAGATCTCTCTCTGGGTTTGGTGTGGCAGTCATG ATTCTTTAATTCTTTGGTCTCTGGGTCTTTTGTTTTCTGCTCACTTCTAC ATTTCAGTTTTTAAAAGTATTGCACAGCAGGTAACTTACTGATGGCTTTT TTAAAAAATCTTTTTTCCTCCTTCCTGTTCAGGGATAACTCCTTTGGCCA TCTGTGTGTCTTTATCTCTTCTGCT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	170	0.0059	-2324	c.201 others(21): Show c.2014+14277_2014+16600del	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	4/8			chr4	TogoVar
CST4_chr20_23680640_23694038	23691262	GATGGATC others(2316): Show GATGGATCAGCAGGAACCTGGCAGCAGGAACCATATTACTTATGGGTGCT CATGTTCAGTATTACGACAGGGAACCTTGTTACCTGAGTCCTGGTGACCA TCTCACCCCACTGTGAATCCAGCACCCCTAGAATAGCCATGAAGCCTGGC AGATACAGCAGGTGTCCCCATGGTGTTTACTGCTGGGTGAGGGAGGGAAG GTCTTCAAACAGAGCTTTACATATGCCTCCTAGTTAGACAGGAAATGGGG AGAGATTCCCAGAGAAGGGAAAGAGAGGGAAGTCCCTTACCAGGTGTTTG TGAGCAGAATGGTCATCTCCAAAGGGTAGGAGTTAGTTCTCCTCTGTGTC TCCCACCTTCCTGGGACAGCTGGGAGTCCAGACTCAGGAAGACATACATG CTGTGCAAAGGGTAAACTGAAAGTCAAGCAATCCTCTTGTTTTTTTTTTT TTTTTTTTTTTAATCATCAGAAAGGAGATGCAGGTAACCCAAATAGCGAG AATGTGCTGGTGGGTGGAGTGTGAGGGAGGGAGGCCAGAGTGCTGACCTG TGCCCCATATGTGATGACACCACCAGTGGTCATCTTCTGTCAGGACTCTG GCATGCACTGCAGGGAGGGTCAGCTGTCCTGATGCAGCAAACTCTCTAAT CCCAGTAGGAAAGATACCAATGTAGGTTGCTCTTAGGAGGAGGTACAAGT GCGATGTCCAGTATGGAGTTATAGGAAGTGGCAGGTTGAGGTAGCTGGCC AGCTGCTCCAGATATTTGATGACCTTAGGTAAATGTTGTGTCTGTCGTGC ATCTGGAGAAAGAGGCTACTTTCTAAAGCATAGTTTCTGGGATTTCAGAC CAGCAGAGATGAGCGGACTTCAGTAGCGGTGTATAAACATGTTTGAAAAT GATGGAGTAGCCAGGTGTGATGGTGCACATGTAATCCTAGCTAATTAGGA GAGTGAGTCAGGAAGATTCCTTGAGTCTAGAAGTTCAATTTCAGCCTGTG TAACACAGTGAAACCCCTATCTCAAAAAAAATGACAGAAGACTTTGATTT CTATAGTCCACAGTTTTAAGGACACACTAGGAGGGGGCCAGATAGCAACC ATGGACTGAGGAACAAGCTTGGGGCCTCCAGCACCCATGTAACCTGGAGG AGTCCAGCTGCCCAGGAGGGGGCATGTTTTCCTTCTGCCAGGTGACGAAA GAGAAAGCTGTGTTCCCCTAGGCTGCATGGTGACTACTGATCCGATTATC TGAATTAGTAGGATGAGAAATTAGGTGACAGGCAGAAGTTCTCTGCAATA AATGACCAATAATAAGTGAACACTAAACAATACTATAATAAACAAATGGC CAAGCTCAGAAAGCATCACCTAAAGGTTCAAGTGGTGAGGACAAGCTGGC CAAGAGTTGAGATTCTGCACATCTGGGTTTTGAGCAACTAACAGTTTGGT CTATGGTAGGAGCTGGGACTGAGCAGCCACAGGATTTGGTGACTTCTCAA ATGGGAAGGCCAGGAGTCTCCTTTATGGAGTGCCTGGAATTCTCTGGGGT CAAGCTCGTCTCTTTCACTCCATCCCTCCTTCTTTTCTCCCTCTCCTCAC ACATGGTGGACACGTGGATGCTTCTAAACTATGAGCCAGTGTTGGTAACA CATTTGGTTCTGCTAGAACATGTGGATGCTTCTAAACTGTGGGCCCATGT TGGTAACACATTTGGCTCTTCCACATCATTAGGAAACTGTGATACTCATG GGGAAGCCTGCTGGTAGCCCTGGCTAGGAAAGGCGAGAGAGGGCAGAGCC CAGTGTCAGGTCTGATTGTTTTGCACCCCATGGGGAGAAGGAGAATCCTT TCTCTCAGGGACTAGCACGTGAATGGTATTCATGGTTCTGGAGTGCAAGT TAACATTTATTTTGCAAAAAGAGCGTTTGTCAGTGCAGATTCACTGACTG AAGAACCACATATGAATGGAGGGGAGTAGGGGCGGCCTCCGGGAACTCGG GCTGCTGGTTGCTGCAGCCAGGGATCCGTCTGAGTCCCTGGGCTGCAGCC TGCAGAGGCCTGGCCATGAGGAAAACAGATGACTCTGAGGAGGTGAGTCA TCTCCTCGACATCTCTGGGTGGTCAGACTTTCTTATCCTGTTTGGGTCAC TGCTGGGACTTCCCTGTCACTGTTTGTGTAACCTTAAATATCAATTCCTT TACCAAAGTGCAGTGACCCTGGAGAATGGTTCCTCTTCCTGCTTGGAATC CTGTTCAACTCAATCACTGAGTGCTGGAGCTGGAGCCAGAGGCCATCAGG ACAGCCCTGCTCCCTCCTGTGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02572.hp1 others(4): Show HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0007 a0002c0003t0004g0032 a0002c0003t0004g0007 a0002c0003t0004g0032	7	452	0.0155	-2323	c.-46 others(11): Show c.-4616_-2294del	CST4	ENSG00000101441.5	transcript	ENST00000217423.4	protein_coding		2225		chr20	TogoVar
KRTAP5-5_chr11_1624775_1635930	1632975	CGGAATTC others(2316): Show CGGAATTCATTGCAAAGGAGAAAGAATGTTGTGGAAGTGAGGTGCAGAAC AGACAGGATGCCCTGGGCGAGACAGGGTGCAGGGCGGGCTGCTCACAAGG ATGAGAAGCAGAGACCGGCCTGAGGGAGGCTCCCTTTATGGGACTCTTCC ATGATTATTCCTAAGGAGCTGGGAAGAGGTGTTGCTAGGAAGCATGTTCT GGGTGGTCCTCTGGGTGCATGTGTGCAGTAGCTGTACACGCTTGTTCATA CCATTCATGTCTCATTAGCATCTTAAATCTCCACCCAGAGATGTGCTTTA TACTATTATAAGGGCCCCGTTAAAGAGTTTTTGTGAGTTTAAATACCCTG TACTGGAGGTCCGCCCTATGTAAATGAAGAGAATGAAGTTACAAAGTCAT TTGTTCGCTGTGTGCCCATGGGGAGGACATGTCCTGTCATAGCTGAAGTG CGAATCCGCCTTATGTTCCCTGCCTCCAGACCGTATTTTCCTGCCTCAGT CCCAGAGCCTGCTGCATGGGCATGCAGCTCCCACAAACACACAAGTTCCC ACACTTAGAAGGCTTCATGCCTTGCTGTCACTGTCTTGAAATTCTCTGCT GGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTG GGTGAATCGCCTGAGGTCAGGAGTCTGAAACCAGTCTGGGCAACATGGTG AAACCCCATCTCTACTAAAATACAAAAAAATTAGCTGGGCGAGGTGGCGG GCGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGA ACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGTGCCACTGCGCGCCA GCCTGGGCGACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAGAAAAAAAA GAGAAATTCTAAATAACTTTGTTTATCAGCTTGGGCTTTGGGGGCAAATC TGGTGGGACAGGGGAGTGTGCACACGACAGGGGTTGCACCAGGGGCAGTG TGCACGCGTGTGCATGCAGGGCCCTGGGCACGGTGGGCAGCACAGACCTG GCTGCGTGGTGTGTATCTGAGGGCAGTCCAGGGCACCAGGGGGAGGCTGG GCTGGAACCGGGGCCCAGGAAGGAGTTGGCAGCGGTAGAAGGGCAGTCAT GGCAGCTGCGGCTCACGGGGAGGAGAGACCCTGCGCATGTCAGCAGCAGC CCAGGGTGGGCAGCTGGCTGGTCTGTCTGTCCCCAGAGCTTGGTTCCCCA GCACCTGCTAAATATGTGCTTCCCAGTCCAGGGCTAGGAAAGGAGCTGCC AAGCTCAGGCGGTACACAGTAAATTGTTACAGAATGAAACTGTGTATATG GACGTTAGCATAGAGCAAACCAGGGGGTTATTAGAATTCCTCAAACACTT TTGAACCTTTAGATTTGGAAAACGGCTGCAACATTGCAAAGCAAACATCC ACAAGACAAACTTAGAAATTAAATGTAAAGGAAATGGCTGGGCACAGTGG CTCTTGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACT TGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACATAGTGAGACCTGGTCT CCATGAAAAATAAAAATAAATTAGCCGGGCCCGGTGGTGTGCACCTGTAG TCCCAGCTACTTGGGAGGCTGAGGAGGGAAGATTGCTTGAGCCCAGGAAG CTGAGGCTGCAGTGAGCCATGATTGTACCCCTGCACTCTAGCCTGGGCAA CCAAGTAAGACCCTGCCTCAAAAACCAAAAAGTAAAGAACATTGTAGTTG ATGGAAAAGAATACTATTTTCAAATAAAGCTTCAGGTGAACTGATGATTA AAGGGTAAGACAGGGCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACT TTGGGAGGCCAAGGCAAGCGGATCATCTGAGGTCAGGAGTTTGAGACCAG CCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGC TGAGTGTGGTGGCGCACGCCTGTAGTCCTAGCTACTCAGGAGGCTGAGGC AGGAGAATTGCTTGAATCAGGGAGGGTGAGGTTGCAATGATGCCCACGGT GATGGATTAGAGGTGGAGATCTCATTAGGAACTCACGCTCAGCTTCGTAC AGACACAGATGGTCACACACAAACACCTGCAGATGTGTGCAGACGTGGTT AGGATGCACACGTATGTCCTGTTGCTCTGTCAGTGGAGAGTGTTGACAGC TGTTGTGAGACCTCGGTTCTTGTCTTCTTAGTTTAAAATAATTTAAACAA GACACACAGGAGATGCAGCACAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00733.hp2 others(52): Show HG00323.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0007 a0008 a0009 a0013 a0017 a0018 a0024	a0001c0001 a0001c0007 a0002c0002 others(9): Show a0001c0001 a0001c0007 a0002c0002 a0005c0005 a0007c0008 a0008c0011 a0008c0025 a0009c0009 a0013c0015 a0017c0024 a0018c0026 a0024c0019	a0001c0001t0001 a0001c0007t0001 a0001c0007t0006 others(10): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0006 a0002c0002t0002 a0005c0005t0004 a0007c0008t0005 a0008c0011t0005 a0008c0025t0005 a0009c0009t0004 a0013c0015t0008 a0017c0024t0009 a0018c0026t0001 a0024c0019t0004	a0001c0001t0001g0000 a0001c0007t0001g0000 a0001c0007t0006g0000 others(10): Show a0001c0001t0001g0000 a0001c0007t0001g0000 a0001c0007t0006g0000 a0002c0002t0002g0000 a0005c0005t0004g0000 a0007c0008t0005g0000 a0008c0011t0005g0000 a0008c0025t0005g0000 a0009c0009t0004g0000 a0013c0015t0008g0000 a0017c0024t0009g0000 a0018c0026t0001g0000 a0024c0019t0004g0000	55	445	0.1236	-2323	c.24 others(11): Show c.2422_*4744del	KRTAP5-5	ENSG00000185940.11	transcript	ENST00000399676.4	protein_coding		2046		chr11	TogoVar
SV2C_chr5_76078383_76338956	76170754	TAAAAATT others(2315): Show TAAAAATTAAAAAAACTGAGAAGGCTCGAAGGCGCCGCGGGCTGGGGTCG GTGGCTTAGGGAGCCCGTCCGGCCATGGTGGCCGCGGGTGGTGGTTGGCG CGGCTGCGCTGCGGCCCGGGGCAGTGCGGAGCCGGGACAGTCGCGGCGCT GACGCCCGCGGGCCCCAGCTGCAGCTATGAAGCGGAGCCGCTGCCGCGAC CGACCGCAGCCGCCGCCGCCCGACCGCCGGGAGGATGGAGTTCAGCGGGC AGCGGAGCTGTCTCAGTCTTTGCCGCCGCGCCGGCGAGCGCCGCCCGGGA GGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCGAGGGCAAGGAG CAGCCGCCTGCCTTGGCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCG GCTGCCACCCCGTCTGGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATC GTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGA GGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTC TTCCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCG CCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGG ATGTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAG CGTCTCTGCCCGGCTGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGG CAACCACCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCC ATCTGGGAAGTGAGGAGCGTCTCCGCCGGGCAGCCACCCCGTCCAGGAGA GAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCA GCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCC ACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCG CCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCTGTCCGG GAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGAG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAG CCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAAC AGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAA AGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCT GTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAG AAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAAC CCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTA AGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGC TCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTACCCAGGGACACAAA CACTGCGGAAGGCCTCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTG TTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTG CCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAA ATTAAAAAAAAATACAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02886.hp1 HG02895.hp2 others(4): Show HG01496.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03209.hp2 HG03486.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0003c0004	a0001c0001t0013 a0001c0001t0065 a0001c0001t0068 others(4): Show a0001c0001t0013 a0001c0001t0065 a0001c0001t0068 a0001c0002t0102 a0002c0003t0080 a0002c0006t0147 a0003c0004t0066	a0001c0001t0013g0085 a0001c0001t0065g0233 a0001c0001t0068g0092 others(4): Show a0001c0001t0013g0085 a0001c0001t0065g0233 a0001c0001t0068g0092 a0001c0002t0102g0234 a0002c0003t0080g0084 a0002c0006t0147g0195 a0003c0004t0066g0086	7	234	0.0299	-2322	c.581 others(19): Show c.581-24148_581-21827del	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
HK2_chr2_74829127_74898359	74864959	GCTGCTGA others(2314): Show GCTGCTGAGCTGGAATTCAAAATGAGGCCTGCCTACCTGTCTAAGGTCCA GTGCCTAACCACTGCTCTGGCATGGGCACGTAACCATGCGTGGGCGTTAC GAGAGGGCCCGTCTCAGGATTGCCGAGTCACAGTGCTAGGCCTGCCTCAG ATTCCGGACTTGGAAGGAATGCAGTCATTGGCTATGGTGGTTGTGGCTTC CTATGTGTGTGGAGGAGGGCTGCAGGGAGGAGGGGTGTCAGGGAATGTGT GTTCCAGAGGAGTCCTGTAAGCAAAGCAAGAGAGGACCTCCTTCCTGGGA ACAGGTTCATCAGCAATACTTTATTATTTGTGTTTTCCCTTCAGTCCATC AGAAAATCCTGCACACCACCCGTTCTTGGTGGAGCTGTGGCCTCTGAGTC CAGCTGGGCTGGCCTCGGATGATGACCCACCAGGGGCAGCCTCGCCACCT CGGTCCCCTGTGGTCACTGATTCAGCGGATCGCGTGTATCCTGGACTTGA GAGTGCTGATGAGGCATTTCATCTTTGATATCCCTTTCATCCCTCATGAC AGCCACCACGTTGTGTTTCCTAGAATTTGGCTGAGTTCCCACTACCAGGG AAGGCTCAGAGCTGGAGTGTCTGGAAAAGCCACCCATGGCCATGAGGCAG GCAGGCTAACCCCAGATGAGGGCGATGTTGCTGTAGCTAGCCCGCAGCTG TAGCTAGTGGTGGGGCCACCTCTAGTCACTGGGCAGGAAATGGAAAATTA GTGCCCCTAAGGAGGAATGCTGCCGTCACTGGAGCCAATTCCAGTGACTT TTCTTGGACAGGTTTCTGCAATCCCTTCTGCTTTCGTTGGCCTGGAAGAG TCAAGTGAGGCTGTGGGACAGGGTCTGCCTAGAGCCCGGAGAGAGAGTAC CTAGTACTTACTGAGTGTGTCCTGAGTTCTTGGTCCTGCACCACACTTGT GTGTCTAATTTTTCCCCTCACAGCAACCCAATGAGATGCAATGTTCCCAT TTTAGAGATGAAGCAGCTGAGGCTCAGAGGCTCAGGAACTTGCCTCTGCT AAATAGTGGCCGGGGTTCTGGAGCAGGTGATGTGGGCTCCAGAGCCAGTC TCCGTGTGTCACATCGCCTGACACACTTCTGGTTGTGTGGTCTCTGGTGG ATGATGTCTACCGTTTTCCCTCTTGGGACCCTAGGGACTGTGGGTGGTGT TCTCAGGGAGCTGGTCAGATGTGACTTTTCTCAGGGCCTAAGTGCTGGAG GTGCTGAGTGCACCTGGGTGTAAAACAAACATTCTTGGGTTATTGAGTCA GAGCATCTCCCTGACCTCTGACCCATTCCGCTTCACTTCAGTGCTGTTCT CCCACCAGGAAAGGGGTTGAGTGTTGACAAACATGCCAATAAGTGAACCC CCCAGGAAATTGCCTTGTATCCTTGTATCCTTTGAGAAGGTTGTGGCAGG GCAGCAGAAGACTGGCGGTGCTGCTCGCAGTTGGGGCAGTCACCTGCGGA TGCGCCTTGCCTGCTCCGCCAGCCCCTGCCCTGCTGCAGGTTCCGCGCCT CTTCAGCACTTTCATTCTGTGCCACACAATGGGGCCCTTCCCCATAGTCG GTGGTATTATCACCCAGGATCTGGATGTTTCCTGTCTACACTGCTGTTTC CTGGAGGGTAGGAACTGCACCTTCCCAGTGACACATGACAGTCTTCACCC ATCTGTGTCTGTGGCTCCTTTCTGGAGTCTCACTCATCCTCTTTCCTGCT CCCCCACAGCTTTTCTGTTGCTTCAGTGGCCTGACTCTTGTCGTACATAC ATGCTCTGGGGTCAGCATTCTCTTGCATTCTGATAAGCCTGAGATCCTTT GAGGGGGCACCTGCTTGCCTTATTCACCAGGCCTCAATGTGTTGGTCCTC ATTCCACTCCATCACATGACCCCTCTGGTCTTGCTGCAGGACATGGCCCT CATAATATGCAAACATTAGAAAGTAAATTTAGTACTGCAATTGCAATATG CAAACATAATATGCAAACATTAGAAAGTAAATTTAATACCGTGCTTGCAA TTTGGTGTTCTGGGGGTATGAGGAACAGGATGGAGGCATGCACCCCTGGC ATGGGGCTTGCTGAAAGCACTGAGGAGGTAGTCGGCTCTCAGGAGGGGGT GAGCACATCGTTGGATGCGAAACTGTCTTATATTGTTGATTGAATTATAA AAGTAATGTATATGCGACAGAATACTACTTAGCCATAAAAAGGAACAAAT TAATGGCATTCGTAGCAACCTGGATGGGATTGGAGACCATTATTCTAAGT GAAGTAACTCTGGAATGGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0006 a0002c0023t0006	a0002c0023t0006g0370 a0002c0023t0006g0370	1	394	0.0025	-2321	c.227 others(16): Show c.227-2675_227-355del	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
GOLGA1_chr9_124873275_124946083	124934019	AGTCCTCC others(2306): Show AGTCCTCCTAGTGAATAATTAAATCTGGGGATGATCTTGGGGATCCTTGA CACACATACTTTAATAAAGGTAGATACAGTTCCTATCCCCATTTTATAGA TGTGAAAAATAAGGCAAGGAAAAATGAAGAAATTTGCCCAAAGTCACATA ATAATAATAGAGCAGATATGACTCTATAACCTGACCTGAGTTCCTAAGGG CTACACTTTATTGTCTTTCATGAAACTCCCAGTTCAGTGGAAGAGACAAA CAAGCAAATCATCAATAATAATGCAGTACAGCAGGTGCTATTACAGAGGT TAGCAGAAGACAAGGCACCAAACAGCCAGGAGGGGTAAAGGGTAGGGGGC TGCCAGAGGAGAAGGTCAGGTCAAGGGAGTTTGCTGGAAGTAACACATGA GCTGAGTCTTAAGATGCACAAGAGTCTGTCAGAGGAATGCAGGAGTGAAA GGGGAAATGAGACATTCTAGAGAGAGGAAATAGCATGTGCAAAAATTGTA AGCATGAAAGAATGTGGTCCATTCTAGAAAGTGCAATAAATTCAGTCTGG CTGTGGCACAGGGTGTAGCAAAGTACAGTGAGATAATGCTGGCCATATAA GCTGAGAGAAGACCATGACAGTTTACCATTATGCTATAATAATGAGTCTG TACTTCATCCTGAAAATAATGGGGAAGCCACTGAGTTTTATGAGTTTTAA GTACTGGAGAGACATGAACAGATCTGCTTTTAGAAAGATCACTTTGGGCT GTGCACAGTGGCTAGCACCTGCAGTCCCAGTACTTTGGGAGGCCAAGGTG GGCAGATCGTTTGAGCCCAGGAGTTCGAGACCAGCCTAAGCAACATGGCA AAACTCCGTCGCTACAAAAAATACAAAAATTAGCTGGGTGTGGCGGCACG TGCCTGTAGTCCCAACTACTCACGAGGCTGAAATGGGAGAATCGCTTGAG CCCAGGAGGTTAAGGCTGCAGTGGGCTGTGATCGGGCCACTGCACTCCAG CCTGGGTGCCAGAAAGAGATCCCTGTCTCAAAGAAAAAAAAAGGTCACTT TGGGGACAGGGAACCCAGATAGACTACAAGTTTGTCCCAGAAAGAAAGGC AGCTTGAAATCAAATGATAGTATAGGTTGAGTATCTCTTGCCCAAACAGT TTAGGATCAGAAGTGTTTTGGAGTTTGGATTTTTTCAGATTTTGGAATGT CTGCATATACATAATATAATATTTTGGGGATGGGACCCAAGTGTAAACGT GAAATTATGTTCCATATACGTTTTATACACATAGCCTGAACATAATTTTA TACAATATTTTAAATGATATGCATTAAACAAAGTTGTGTTAAGTATTTAT GTGTAAATTTTCCACTTGTGGCCATGTTGGCGCTCAAAAAGTTTAAGATT TTGGAGTATTTCAGATTTCAAATTTTCAGATTAGGGATGCTTAACCTCTG CTAGTAAATGTACTACTAGAAGATGGAGTAGGGAGGCAAGTTTGAGACAT TTAAGAAATGAAAGCTGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCA AGAGGATTGCCTGAACTCAGGAGTTCAAGACCAGACTGGGCACACGGTGA AACCTCATCTCTACTAAAAATACAAAAAACTAGCCAAGTGTGGCGGTGTG TGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGTGAGGCAGGAGAATTGCT TGAACCCAGGGTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCCAAAAA AAAAAAAAAAAAAGAAAGAAATAGAAGCCATAATACGTGTTGACTGATTG GACACCAAGAAGTGAAAGGAGGGAAGAGCCTAAAATACCTCCAGGGTTTC TGGCTGGTGACTTGGGAAGATGAAGGTGCACATTTGGAGATGGAAATAAT GAATTCAATTTTGTTCATTTAGAATTTGAGATGCCACAGAGGAGGGATCT GTTTGGAGAAACATATGCAGTTGGATATAAGGGTCTGGAGATAGGAACTG AGGATCAGGCTGTATTAAGTTCAAAACTTGAGAAACCCCAAAATAAATTA CTTCCTGAATCTGGGTCAATCTCTGTATTTGGAATACATTACTAAATAAA AGACTTCATTTAGGGTGTCAGCATGAAGGCAAAACAGGTCCATCTGTCAC AGAACCCAGCCTTAAAACTACATCCTTCAGCCCGATGCTCAAATGTGTGC TTATATTTCCTCTTAAATATAGGAGCCAGTGATAATGTAGATCTGGTAAT CTTATTGCTCCATCCCGATAACCTAATAACTTCTGCCATGTAATCTGACC TGGGATCCAGGCAG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19005.hp1 NA19006.hp2 NA18952.hp2 NA19005.hp1 NA19006.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0231	3	374	0.0080	-2313	c.135 others(17): Show c.135+2245_136-2614del	GOLGA1	ENSG00000136935.14	transcript	ENST00000373555.9	protein_coding	3/22			chr9	TogoVar
TM4SF20_chr2_227357038_227384306	227365989	AGTTGCAT others(2306): Show AGTTGCATCAAATAAAAACATGGCATTGTTCCAGTACTGCATTAATCTAA TCAAACTAGTTCAACTGTGTGAGACAGTAAGCCTGTGAAAATCAAGTTAC TTACCTGATGTTTTTCAATGAAAATTCACAATTGGCATTACTGTTGCTTG GAGAATTACACATGAGAGGACCTTTTAAGAGAGCCTGGATGGATATCAGC ATGCAATACAGAGCACCAATGACTGTGATCACACTGAAAAGTGATGAAAG AAACATCTGAAAAATAAAATAGAGCCATTTGCACATGTTATGACATGTTC TTGATCTGTTTCAAGCTTCAGGAGCGTATACAGTCTTTTTTAAATCCAGT CGCCCTAAAATCCTGGATCTTAAGATCACAGTTTATTAGGTGTGAATGAT ACAAAAAGGCAGAGGGCAGTCTCTGCTATTTGATTACACTCAATAAAAGA TGGTTGGGGCTGGGCATGGTGGCTCACACCTGTAATCTCAGCACTGTGGG AGGCCAAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGG CCAACATGGCAAAACCCCCTCTCTACTAAAAATACAAAAACTTAGCCAGG CTTGGTGGTGGATGCCTGTGATCCCAGCTACTTGGGAGGCTAAGGCAGGA GAATCGCTTGAACCCGGGAGGCAGTCATCCGAGATCGTGCCATTGCACTC CTGCTGGGTGACAGAGCAAGACTCTGTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGATGGTTTGGCTTGTCACTGTCTCTGGAAAAT CTCAACTTTCATATTCCTGAGTCTCATCTGTTTCTTCTGACCACTGAGAT CTAGTTCCTCCCTGTTTTATGTACTTCCTACTTCATAGAATCTTGACTGG ATCTTAACTACGTTTATCTTCATGTCTGGTCTCTTGGCTCGCAAGCGTTT GGCCCTGATGCTTTAAGTGAATTTGGCCCTGATGCTTTAAGTGGCCAGTG GCCAGCATCCCACAGTGATCAGTCAACAGCATAGAGTTAGAACAGGACTT CCCAACCTCAGCACCAATGACATTTGCACACTTCGCTGTGGGGCCTTTCC TGTGCAGTGTAGGATATTTAGCAACATCACTCATCTCTACCCACTAGATG CCAATATCATCCCCCGACGCCTTGCCACCTCCAGCCCGGTTCTGACAACC AAAAATGTCTCCAGGCATTGCCAAATATCCTCTTGGGGTGGAGGTGGGTG GGTAAAATAACCCGCCGGTTGAGAGCCACTGTGTTAGAAAGATTGTACAC ATCTTTATTTCGTGAGTCAGTCATGAGAGCAGAAGAAGGCATGGAATTTG GCATAGGAAACTGAATGAAAGTTCGTGTTTGTTTTTCCAAAAATAAGCTC TTAGGCCAGGCACAGTGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGGC CAAGGAGGGTAGATTGCTTGAGCCCAGGAGTTCGAGACTAGCCTGGGCAA CGTAGTAAGAGCCCATCTCTAAAAGAAAAAAAAAAGAAGGAAACTTTTGT ATTGTTTCAGTGAAGTTGTTAGTCACTGATGATTATTTCAAAATCAGCAG AAATGAAGCGAGGGAATGCTTTTCCTTTTTCTTTGCTGGGATAATGCAGC TCCCACAGGGTCTGTGTGTTGTGTTCTTGAGACCTGCCTTTTATGAGTGC AGAATAAGGTGGCTACCTATAGAGTTGTGTTGAGGGATGTTGTGCTCTAC ATATATCATCTCATTTAATTCTTTTCATAATCCCAAGAGGTAGATACTAT TATTATTTCCATTTTATAGATGAGAAAACTGTGTATCATGGAGATGGACA AAACTTGTCAGGCTCTCACAGCTGGGAAACACTTTAATCACTATTCTTCT TCCAGCCAAAAGTTCAGAATGATGGATTTGGAGTCTACTTCAAATCCTGA TTCTTCCATGCTACTGTGACTTGTGCAGTTACTTAAATGTACTCATCAAG AAGTGCCATGGTGTTTATTTTTAACCATCTATTTTTTTTTTTTTTTTTTT TTGGAGACGGAGTCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCATGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTAACCAGGAT GGTCTCCATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTG CTGGGATTACAGGC	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02129.hp2 HG02129.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0123 a0007c0012t0001g0123	1	470	0.0021	-2313	c.250 others(16): Show c.250-2058_401+103del	TM4SF20	ENSG00000168955.4	transcript	ENST00000304568.4	protein_coding	3/4			chr2	TogoVar
MECOM_chr3_169078507_169668712	169596096	GAAAATAT others(2305): Show GAAAATATTATTGACAACTTCTCCATTTTCTCAAAAGGTGTAGTTTATTT AATTCATTGAAATGTTACATGTAACTCTTTAATATTATACTTCCGAGAGA TGTGCAAGTTTCATCTTCAGAAACTGTCACTGGCCTTAGAAGAAAACACT TAGATGTAAACTCTTGTGCCAAGAGCTTTCTGTCCTGGGGCATATTGGAT GAGCACATTCACAGAACATGAAACAAGAGAAGGAAGACAGCTGTAGCCCA GGCGGTGATGGATAACCCTTGATCGGGCAAACGTAATATCTCTGAGGGCT GAAAGTACATTATTAATTGAAATCCTTGGTTAGTTCCTCCTTGTAGACCA CCATATAATTGCATCTCTACCTGAAAAACTGTTTTCAGCAGAATTCATAA TGGGTAAAGTGTCCTCAAAATGCATATGAAGGAAATCTATTTTGCGTACA AGTGATTATATCACAATGTACACATTACAGAGACACTAAATCCTTATTTC CATGACTGTACACAGACCAGAAAATAAATGCAAGCAGTTTACCGCTCACC ATACAGCACAGTAACAATTAAAATGCTGTTTGATCAAAAATTAAAACCTA AAAAACATTAAAACTAAAAAAAAAAGACTGTTCCATAGAATTAGTGTTTC CAGTTAGCAACAAATATAAATGACCTCAGTGTATTCTGATATTAAATACA ACCTCCCCAATATAAATATCTTATAGTTACAAATACCTTAGTTTAATGAA ATGCCTCTTCTTTTGTGACTATATTTTATGAATATAAATTGGACTAGTCA AACACATTAGCATTTTTTTCTTATTCAAATAGAGTGTATCAAATCTTGCT GGTTTAAAAAGAAAAAGTTTCTTAGGACAATGAAAGTTTTATGGGGAGTT GAGGGGTTGGAAGGAGGTGAAGAGGTGCATGTTTCCAAGCTAGGGTATAG GAAAGATTAAATATCTCACTGAACTTCAGCCTGACATGGAAAAGTAACAT CACCTAAAATCTCAATCTTATCAAAGTGTAAGATGAAGTAAAATAGAAGA CAGGGATACATTAAGAGATGTTCAACATAAGTTTTAAAAATAGGTACAGT AATAATGCAATCCACTAATAAACTGAATAAGGAGCCGGGTGGAGAGTCTA ACAACCAGTCATACTAAATGACAGCTCAGAGGGCGAAGAGGTGTGGAAAC TGAGAAGATAGACTTCCAAGTCTTTTCCTGAAAGTGCTTAGATTTTGAGA AGAGTCCAATATTGTCAGACAAAAGAGTCTTTGTGCAACAACACCAGGGA GGTGACGGAAAGCTGCTCAGGAAAACCAACATAGACAGCCCCAGCCTTGT ACACAGGACCCGTGGAGAACTTTGACTTATGGGGCCTGCAGAAAGAACAA TGCTAAATGCAAGAGCATCATATTCAGCCAATATCAGAATGGGCACAGAG CAGATGAGCAGATGTCTTTAAAAAATCATGTTGGGTTTTTTTCTTTCAAA AAATATAATAAGCAGATACACAGACTACAATTTCAAATTGCATCAGTAGT CTTAGACTAGGTCCTCAGACATTTGACCACTCTGGGTGATTTAACCTGCC TCACAAACCTTGATACCTCTGGTTGGCAGGGGCTCTGATTTTGAGTTCTT GGTGAAGTGGCAAAACAGCTCATGAGGGAGTATCAACACACAAGGCCTAA TATCCTGAGGTTCCTGTCCCAGAATAATGAAATAGGAGCCTGTTATTATT AAAGGAAGACTGGTGTCATACAGAGACAATTTCAAATAGAGAAATACACA CTAAACATGGATGGTGGTCCACTGTTTATTCAAATTCAGGATATCTACAA AAACTTAGGCTGTAAATCAAGTAAACACATCAGATAATTGGCACTTCCAG CGTTAGGGAGAGTTGTCCAAGCTTTTGCCCCTACAGGAAACCATAATAAA TAAGAGAAAAACACCCAGTATATCAACCTTTCTGGATCTTCAAAATAGAG CTGCCTCATAAGTTTTACCAGGATGAAAATATTAAAAGATTCATAATAAG GGTACAAAAAATTCATTTTTCTCCTTCACCATTTCCAACTGCCCTGCTAT CAATCTGAAAATAATTTAAGTGTTTAAAGGTATCCAATAAACAAGCAATG TCCTTAAATAAACTTTAAAACCAGGTGCCAATTTTAAATTAGCATTAGAT GCAATTTTATCTTAAAATGGCATCTTCGCAGCTGTAATTTCCATCATATG AAATAAACAGCAAGTTATAAAACTGGCTGAAAATTTTTCAAAAATATACA TCTGCCAATAAAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0102 a0002c0002t0005g0102	1	160	0.0063	-2312	c.37+ others(17): Show c.37+64928_37+67239del	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
PHF21B_chr22_44876162_45015005	44932369	TCCTTATT others(2301): Show TCCTTATTCCTTCCTAGCCAGGGGGCCCTGAACCCCCAACCTGGGCCCTT GGATCTGGAGTGGCCGCCACCACCAGGCACACGTCTTCCAAACAAATCAC AGTAGCAGCAAAATCCAATCGATGGTAGTGCCTCTAGCTGCCTGTCCCCA CTGACCTCCAGACCTCTGTAAAATAGACGGTCATTGAGAAGATCTAATTC CCACAAAAGATGGGTTCACACAGTCCCGCTGGCCTCAGCTTCATCATCCC CACCTCCGACGGCCTGGGATCTAACTGAGGGTGCACCACGGAACGCTGAT GACGGCCTGGAATCTGAGGGTGCACCTCCGCACCTGCACCACGGAATGCC GATGACGGCCCAGCAGGTGCTCCTCTCTCTGCAGAGGCCTCCTGGAGCTA GCCTTGGTGTGGGCAGGGATGCAAGGGTGGGTGGACCCCAGTCACCCCAT CCCCAACCCCTGGCCCTCCAGAGGAAGGGCCCATTTTACTTCCAGTGAAT GGCACAGAGCTTAGGCCACAGCTCACTGGATTTGACAAACATCTACACCC AAGTAACCACCGTGCAGACCAAGATACAGAACATTCCAGCAACCCTAGAG GTGCCCACAAGCCCCTCAAAGGGGGCCCCGCATTCTAACAAGGCACTCGC CAAGGAGAGCAGGTCCTGTCCTCGGGGACAGACTTCTGGTTGGATTGGCA AATGCTCCCGCCCCGCTGTGGAAACAGCTTCAGGTCTCTTCTATTTCTTT TTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCA CTGGCACATCTCGGCTTGCTGCAACTTCTGCCTCCTGGGTTCAAGCGATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTGTATTTTTGGTAGAGACAGGGTTTCTCCATGTTGGT CAGGCTGGTCTCGAACTCCCGCCATCAGGGGATCCGTCCGCCTCGGCCTC CGAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCTCGGCCTCTTCTAT TTCCTGAAGCCATTGGCACTGACTAAACTCAGCAAGTGTTCACTGCACAC CTACCCCGTGCTGGGTCCCTTGTGCACAGATGAGAGGTTCTGCCCGCGAT CTGGGGAAACAGACCAGAAGTGAGCATCAGAACGTGCTGCCCGCAACTCA ACGGAAGTGCACGGGAAGGTCTCGGCTACATAGAAGGGGTAAGCGTTAAG TGGGGTGGGGGAGCCGTCTGAGGTTGGTCACGCACCTCCATGCCTAGTTC ATCTCCACCATTCCAGGAGACGAGTATCTGGAGCTCTTCGTGCAGATAAG AGAGAGAGAGAGAGAGAGACAGACAGACAGACAGAGAGACAGAGACAGAG AGACAGACACATGACTGCCCCAAGCAAGTGAGGAATGAATCTGTGTGTAC CCTGCACCGCGAGGGAAGGGTTTTCCGGGCACAGTAACTGAATACAAATG ATTTACACAACCACAGGGAAGGCTCTGGCAGTCCCCAGGAGACAGGCCAT GGACTCGTGAAGCGTCCTTGTCTATTTACTGAGATCCTGCCATGCTCAGC AGTCGCTGCATTTCCACGCAGTTTGAGGGACTTCCTGGTGAAAACTAACA AGAAAATATATGGCATGTGTAACCACAAGACCAGAGGGGCCCTTCTTGAC CTCTGCTTCCTCTCCTCTGACGTGGGCATGGCAGCCCGTCCCCTCCTGGG GACTGCTGACCCAGTGGGTGGTCCTGGTGGCTGCCACAAGGCAGGGGGCC TTTGCACGGGGCTCAGAGTCCCATCGGCCACTTCCTCCTGACTCTCAGGT GCCGCTGGCCCTCACCTGCACCTCACCCACCTGCTTCCCCTGTCCTGGAG CGTGGCGGTGAGGATGTTAGAACAGCCTGGTACCCAGCCACCCATCACCG CACGCGACCTAAGACAAGACAGGCACATAGAGGAGCGATGACATCATCAC AACAAACATGAATGAGACTCCTTACAGACGTCCACATCCAACAGAAGGGA CTTCCACGAGCAGGAGTTTTTTTCAGGCCAAGAAGGGACAACATCGTCCC AGGCAGAGAGGGACAGTCTAGAGGTATACCAGGATGGCGTGGTCAGGAAC AGAGCCCTCCCCTGCCAGGGCGTCAGGTCCATCTGGGAACGGGCAGGTGT CAGCACATGGACAGACCACACCCATCAAGCTAAGCTGTCTCGACTCTGCA GGTAGGCACTGGGGCTCTAGGAGTTTCCAAGCCAAGGGTAACATCACGTG GGCCCATAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	300	0.0033	-2308	c.121 others(19): Show c.121-14187_121-11880del	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
P2RX5_chr17_3668227_3701155	3685658	CCCAGCCT others(2300): Show CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCA GGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAA CACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCC CAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGC CCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCAC AGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCT CAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCC CCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGC CCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAG GAGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTC CCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC ACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACG TCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	362	0.0028	-2307	c.981 others(15): Show c.981+47_981+2353del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
SPIDR_chr8_47255938_47741306	47389456	GAGGCGGG others(2300): Show GAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACAC GGTGAAACCCCGTCTGTACTAAAAATACAAAAAATTAGCTGGGCGTGGTG GTGGGCACCTGTAGTCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCAGAGCTTGCAGTGAGCTGAGATGGTGCCACTGCAT TCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAA AAAAAAGTTTCCATGGAACAAAAATTTCGCCCAAGTACATTGGGTCACCA TGTGGCAGCAGTAGGCAACCTATCAGGAATAACTGTGGTTAAGAAATGTG GTTGATGTTTTTAAGGTACTGGGAAAGATGTCAGTGGTGTATACCGGGTC TTTCTTCTGTCACTTTAAAATTTTAATAACAATTTTCTGACCACCTTCTC TCTATGGAACACATAGATCCAGATGATTGAAAAATTCATTTTCTCTCCTA CTGGAGAAATGGTTAAAGGATATGAACACACAGGAAGAAATGTGAAGAGC CAATTAACAAGTGCAAAGAGGCTCAACCCTGTGAATGATCTGGGATGTGC ACACTTAAGTAGGAGAGATAAAACATTTCACACCCATCAGATATGTATAC ATTTAAAAGTTTAAAATTACTCAGTGATGCTGATAATGTGCCACAGCTTT CAAACACTGCTGATGGGCATTTCTGTCAGCACAGGGTCTCTACAGAGCCA TCTCCCAGTTGCCAGTGTAGTTGAGAATGGACTGTCCAAGAATCCACTGG GCTAGTGTATACCACTGAGAAGCTAGCATGTATGTGCCCAGTGAAACAAG TATAGTACACACATGTTACAGTTTTGTTTTAATGTGAAAATTTACAAAAC TCTTAAGTGTCTACCAACAGTGAAATAGATAAGTAAAAAGTGGTATAGTC AGAATACTTTATAGCAATGAAAATTAATGATCTACAGCTGCTGTGTCCTT GCAAAATAGTTCATTTGTATGTGTGCTATTAAAAAAAAAAAGCAGATAAT AATGAAATGCCAAATTCAGGAGAGAGTTGCCTCTAAGGAGAACAGGCATA GAAAGAGAAATATAGGACATATCAACCATACCATTAAAAAAAAAAAAAAC TAAAGAAAAACTTGCATCGTGTTAAAATTTGACAGAAGGTGATGGGTACA TCTACTTGTTATTTTTTTTTCCTACCTTTCTGTGCCGTTAAATATTTCAT AATAAATAGTCATTATCTGTATCTTAAAATATTTCTCAAAGAATTTTTCC ATTTTTGGATGATTAAGCTGGGAATGGGGGAGTCAACTTGTTCAAAGTAA CAAAGTAATTAAACAGTTGAGCTGTGATCAAAAACAAATCTGTCTTGTTC CAAAACTTATGGCCCTCCTTTCTCGTTAGTCTGATTCTACAATGTAGAAA GGAAATATAAGCTTGAACCTATGAACCTGCAGTTGCCTTTGACCTATTTC TGACTATTCCCTCTCTCTTCCACCCTCTCTGGCACACACTTGTCTGTGCA CACATGCACACCTGTACATATCCTTTCTGAAAGATCGTGTGTTTCTCACA GTCGGGCTTAGGCCAAGACAGCTGGTGTCCGGTGAGCCAGTAGGTCCTCT CTGTCCGTGGTATGAGAGTTCCTCCGTGTTCATCTGGGGTTATGGACGTG GGGGATATTCTAAAATACCATATGCTAAAATGATGGCTTCTAGTTATCCT TTCCTAAAGGTGTTCCTTCTGCCTTGGTTCCTGTTAGAAATGACTACATG GGCCGGGTGCAGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGA GGTGGGAGGATGGCTTGAGCTCAGGAATTTGAGACCATCCTGGGCAACAA AGTGAGACCTTGTCTCTACAAAAAAAAATTTAAAAATAGCCAGGTATGGT GGCACACATCTGTAGCTTCAGCTACTTGAGAGGCTGAGGTGGGAGGATCA CTCAATCCCAGGAGAGTCAAGGCTGCAGTGAGCTGTGTTCACGCCACCAC ACTTCAGCCTGGGCAACGGAGTGAGATCCTGTCTTAAAAAAACAAAAAAC AAACAAAGTAAATAATTAATTAAAAAATGACTACACGAAGAATCCAGGAT TTGCTCTGTGGGTTAAGACAGTATTTGTCTTTTTGGTTGTCTACAGAAGA CATTCTTGGTGTTCCTCATTGTCTTTTGTATAGAAATCTTCTTAGAAACC AAGAAAAAAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	216	0.0046	-2307	c.526 others(17): Show c.526-6911_526-4605del	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF616_chr19_52108091_52144938	52142631	TGAAAGCA others(2300): Show TGAAAGCAAGTTTACTAAGCAAGTAAAGGAACAAGGCAGGGTGCAGTGGC TCACGCCTGTAATCCCAGCACATTGAGAGAGGCTGAGGTGGGCAGATTGC TTGAACCCAGGAGTTCAAGAGCAACCTGGGCAACATTACAAAACTCTATC TCTACAAAAAATACAAAAATTAGCCAAGGGTAATGGTGTGCACCAGTAGT CCAAGCTAGTTGGAAGGCTGAGGTTGGAAATTGCTTGAGCCTGGGAGAAT TTTTTTTTTTGAGGCAGTGTCTGGCTCCGGTCACCCAAGCAGTAGTGCAG TAATGCCATCTCGGCTCAGACTCTAATTCAACACGGAATGTTGAGCTTCT GAGCGTGATATAGCGGAAGTGCCTTCTCTTCCGGTCTCTCTGGTCTTGGC CGCAGAAGCCAGATGACGAAGGGAACGTCATTGTTTGGAAAGCGTCGCAA TAAGACGCACACGTTGTGTTGCCGCCGTGGCTCTAAGGCCTACCACCTTC AGAAGTCGACCTGTGGCAAATGTGGCTACGCTGCCAAGCGCAAGAGAAAG TATAACTGGAGTGCCAAGGCTAAAAGACAAAATACCACCGGAACTGGTGG AATGAGGCACCTAAAAATTGTATACCACAGATTCAGGCATGGATTCTATG AAGGAACAATACTTAAACCCAAGAGGGCAGCTGTTGCAGCATCCAGTTCA TCTTAAGAATGTCTATGATTAGTCATGCAATAAATGTTCTGGTTTTAAAA AATACAAAAAAAAATACTGAATGTTTACTCCTGAAACTTATGATGCCTAG GTTGAGAAAGACTCAATTTTCCTCATGCTAAATACTTTATACATGTCCTT TATTCATGCATACATAGGACACTTTACACAATATAATTGTTGAAAGTGCT TCTGAAATACTGTTCAAATTGTCTATAATATTTTTACACATGCACTATAA AAATTAAATTTATCAGACAATAAATATTAAATAATTTAATAAAATTGCAT TTTTCAAAGGCTCTAACAATGCATATTTGAGTTATCATATTAAACATTGT ATTCTATGATTTTTCAACTGTAATATAATTTTTTTTGAGATGGGATCTTG CTCTCTTGCCCAGGCTGCAGTGTGGTGGTGCAATCACGGCTCATGCAGCC TCCACCTCCCCAGGCTCAAGTGATCCTCTCACCTCAGTTTTTGTGTTTTT AGTAGAGATGGGGTTTTATAATGTTGCCTAGGCCGGTCTCAAACTTCTGG GCTCAATCTGTCCACCTCAGCCTCCCAAAGTGCTAGGAATACAGGCATGA GCCACAGAGCCCAGCCAAAACTACATTTTAAAAATAATTTTTTATCATTA CACACTCCACTAGAAACCATTTAACCCAATTTATGGACTTACATTTCTTC CATTGAAGAACTTGAAGGATCCAAAAATCGAGGTGACATTCTCAGATTTG TGTGGCAAAAAAAGAATAGAAAAATAACAGATGCAAAGAATGTGTTCCAC CAATATGTGGAGGATCCCTTTTATTTTAAGTTCAGGGAAAGCATTGGAAT GATACAAGAAAATAAACTGAAATTGTATAATGTGGAAACAAGAGCTCTGT TGCTAATATGCAAGTTTATCACTGAGATTTTAACAACACAACATGCTAAT TATACCTTAAAATATGTTTCTCCCAGTCTGGGCAACATGGCGAAACCCCA TCTCTACAAAAAAATCCAAAAATTAGCTAGGTATGCTGGTGTGCACCTGT AGTCCCAGCTACTTGGGAGGCTGAGAGAAGAGGATCACCTGAGTCCAGGA GGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGT GACTGAGCGAGACCCTGTCTCGAAATATTACAATATGTGACAGCGCAGCT TCCATCAGAAATAATTTGTTCCTCTTTTGCCCACACAAAATATTCACCTC CACTTCCTCTAACATTTTTTTTTAAAAAAAAAAGCCCAAACATAACTTTC AGTTGCAAGCAAGGATCTCATGACAGTCTCATGACACTTCTGTTCACTGA GAGCCCAATAGAGTCCTCGTCACTCACGACATTTCATGGTGGAACAGAAA AATAAAACCTGAATTAACCCTCACATTCAGAAAAGGGAAACAAAGAAGGT ACTACCCAGTAGGTCCATAGCAAATGTGCAATTTTGCTGAGAAGATGAGT TAGGGCCTGGTTCCAGGAGGTCAGGAATGAATAACAGTACTTTTCATGGC TACAGTTCTCCTGAGAATAGGTTTCCAGTCCACTATATTTTGTCGTTCTT AACTTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0168 a0002c0002t0003g0168	1	414	0.0024	-2307	c.-52 others(11): Show c.-5283_-2977del	ZNF616	ENSG00000204611.7	transcript	ENST00000600228.6	protein_coding		2694		chr19	TogoVar
ASMT_chrX_1610059_1648081	1639432	ATGCTTCA others(2299): Show ATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGT CCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGAT CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCT GTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTG ATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCAT GTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGT GGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGA GATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTG TGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGAT GATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGT TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCAG TGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGATGTGGACACAG CCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCAT CCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTGTTG GGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGTACATGGACACAGCC TCTCTGTGTGAGATGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCC ATCCTGG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0112 a0002c0002t0002g0112	1	223	0.0045	-2306	c.910 others(17): Show c.910+2875_911-1063del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
TMEM163_chr2_134450759_134724000	134607041	GACAGACC others(2298): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGA AAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAA CTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGATGAAAAG GACAGACCCCGAGAACTGTGCTGATGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGAC AGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACT GGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGATGAAAAGGACAGACCCCGAGAACTGTACTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCC CGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAA AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGA CCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCT GGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCC GAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGATGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAA CTGTGCTGGTGAAAAGGACAGACCCCGAGAATTGTGCTGGTGAAAAGGAC AGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCTGAGAACTGTACT GGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTACTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAA GGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAA CTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAC AGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACT GGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTG GTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	222	0.0045	-2305	c.323 others(19): Show c.323-57255_323-54951del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
EMID1_chr22_29200896_29264597	29237097	TATTTTCT others(2297): Show TATTTTCTATTTGTTTTCCTTGTTCTTTGTTCCTATTTTTGTCTGCCAGA CTTTTTCTGCCTTTTTTTGGCTTTATTTATTTATTTACTTACTTATTTTC TTTTGAGAGAGAGTCTTGCTCTGTCACCCAGGCTGTAGTGCAGTGGTGTG ATCTCTGCTACTGCAACCTCTGCCTCTTGGGTTCAAGCAATTCTCTGCCT CAGCCTCCTGAATAGCTGGGACTACAGGCACCTGCCACCCTGCCTGGCTA ATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACTGG TCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAGAGTG CTGGGGTTACAGGTGTGAGCCACCATGCCCGGCCATGCTCCTCCTTTCTT TATGTAAAATCTGAGTTTCTGGCCAGGCACGGTGGCTCACGCCTATAATC CCAGCACTTTGGGAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGATGGA GACCATCCTGGTGAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAATGTAGCTGGGCGTGCTGGCAGGTGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCATGAACCTGGGGGATGGAGCTTGCAGTGA GTGGAGATCGCGCCACTGCACTGCAGCCTGGGCAACAGAGCGAGACTCCG TTTCAAAAAAAACAAACAAAAAAAATCTGAGTTTCTGACACATAATTTTT GTCCTCTCTGAAGAACTACCTTTATTTTTTCCCAGTTGGCTTTATTTGTG ATTCTAGAATCGGGCAACACTTCATTCCATAAAATAAAATAAGTGCTCCG CTGAAGAACTTCTTTTAATGTTTCCTACAAGGCAGATCTACTGACAAAAA TTCCCTCACTGTTTGTTTGTCTGAAAGTCTTCATTTCCCTTTCATGCATG AAGGATAATTTTTCAGGGTAAAGAATTCTAGGTTGATGTGTTTTTTTCCT CTCAATACTTGGTATATTACTCTCCACTCTCTTGCTTGCATGGTTTCTGC AGAGTTGGTTGTAATTATTATTGTTGCTCCTCTGCAGGAAAGATATTTTT TCCCTCTGTTTTCTTTTCAGTATTTTTTTATCTTTGATTCTCTGAAGTTT TTCTAAAAATTATTATTATTATTATTATTATTATTATTATTATTATTATT ATTATTAGAGATAAGGTCATACTCTGTCACCTCAGAAGCCTTGAGGCTTC TGGGCTCAAGGGATCCTCCCGCCTCCACCTCTCGAGTAGCTGGGACTACT GTCATGTGCCACACCTGGCTAATTTTTTTTTCTGTTTTGAGATGAAATCT CACTCTTGTCCCCAAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACTGC AACCTCCGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAAT AGCTGGGATTACAGGCACCTGCCATCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCT GACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGGTGGGATTACAG GCGTGAGCCACCGTGCCCGGCCATTTTTTTTTTTTTTTTTTTTAATTTTA GAAGCAAGATCTCACTATGTTGCCCAGGCTGGTCTTTCTGACCTCTAGTG ATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC TGCACCCAGCCTGATTTTCTGAAATTTGGATATGATATGCCTACTTGTCA TTTCTTGGCATTTATCCTATATGGTATTCCCTTATCTTCCTAGATCTGTG GTTTGGTGTCTGACATTTTTGGGGGGAAAATTCTGTCATTATTACTTCAA ATATTGCTTGTGTTTCTTTCTCTTTTTTCCTTCTGGTATTCTATTATGCA TATTTACATCTTTTGTAATTGTCCCACAATTCTTGGATATTCTGTTCTAT TCTTTCAGCCTTTTTTCTCTTTGCATTTCAGTTTTGAAAGTTTCCATTGT CATATCATCAGGCTTAGAGATTCTTTCCTCAGCCATGTCCAGTCCACGAA TAAGCCCATCAATGGCATTCTTTATTTCTGTTACAGTGCTTTTTATATCT ACCACTTATTTTTAATTATTTCTTAGAATATCTTTTTTTTCTTTTAAAAA AAATTTTTTTTTAATGTAGAGGCAGGGTTTTACCATGTTACCCAGGCTGG TCTCAAACTCCTGAGTTTAAGCAGTCTACCCACCTCAGCCTCCCAAAGTG TTGGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00609.hp1 others(69): Show HG00099.hp1 HG00558.hp1 HG00609.hp1 HG01074.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18963.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18993.hp2 NA18995.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp2 NA19066.hp1 NA19084.hp2 NA19087.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0009	a0001c0002t0001g0014 a0001c0002t0001g0059 a0001c0002t0001g0060 others(66): Show a0001c0002t0001g0014 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0091 a0001c0002t0001g0108 a0001c0002t0001g0143 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0229 a0001c0002t0001g0285 a0001c0002t0001g0315 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0123 a0001c0002t0002g0183 a0001c0002t0002g0191 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0206 a0001c0002t0002g0266 a0001c0002t0002g0277 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0332 a0001c0002t0003g0184 a0001c0002t0003g0196 a0001c0002t0003g0259 a0001c0002t0004g0001 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0006g0020 a0002c0001t0001g0005 a0002c0001t0001g0029 a0002c0001t0001g0070 a0002c0001t0001g0090 a0002c0001t0001g0133 a0002c0001t0001g0176 a0002c0001t0001g0265 a0002c0001t0001g0274 a0002c0001t0001g0276 a0002c0001t0001g0294 a0002c0001t0001g0296 a0002c0001t0001g0314 a0002c0001t0001g0342 a0002c0001t0002g0021 a0002c0001t0002g0022 a0002c0001t0002g0167 a0002c0001t0002g0267 a0002c0001t0002g0280 a0002c0001t0002g0287 a0002c0001t0002g0299 a0002c0001t0002g0308 a0002c0001t0003g0002 a0002c0001t0003g0109 a0002c0001t0003g0128 a0002c0001t0003g0129 a0002c0001t0003g0130 a0002c0001t0003g0131 a0002c0001t0003g0339 a0002c0001t0009g0243	72	348	0.2069	-2304	c.107 others(19): Show c.1074+2752_1075-4041del	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EPS15_chr1_51349263_51524266	51449479	TATTAAAT others(2297): Show TATTAAATGAATGACAAAATAATCTGCACACCAAACCCCGTGACATGCAA TTTACCTATATAACAAACCTGTACATGTACCCCTGAACCTAAAATAAGAG TTAAAAAAATTCATTGTTCTTTGTTAAAGATGCTATATTAGGCTAAGTTT CTTTTGCAGTAAAGGAAGAGTTTAATTGATGCAAAACTGGCCACACCACA CGGAAGACAGAGTTATTACTCAAATCAATCTCCCCAAGAATTTGGGGGCT AGGGTTTTTCAGACAGTTTGGGGAAGGGGTGGGGGTGGCTAGGCAATGGG TGCTTGCTGCTGACTGGCTGAGGGTGCAATCTTGGGGTACGGGAAATTGT CCTCCTGTGCATTGAATGGCTTCTGGGTGGGACCACAGGAACAAGTCCAG GAGGAAGCCATGGTTGCAAAAAACTCCAAGTGCAGGGCAGCTTGATTCCA GGGTGTGGAAAAGGCATAAGGGAGGCTCCACTGAAGATTCAGTAGGAAAA TTACATGGCCTCGCTGTGAGTGCCTGGCCCGTGGCTGGATGTCAGATGCT GCTCTTCTTCTCTTTCTTACTGGATCACTCAAGAGATGGCCAAGGAGGTA TTCCTAATAGCTCAGAATTTGGAGAGGATGTGTTCTGGTATTTTTGGGCT TCAGCTAGCTGTGGTGAAGGATTGGGCACAACGTGGGACATAAGGCTCCC AACTGCTACCCTGCAGGAGCCAGGGCACTCCTGGGCAGCTCCTAGGATGG AAAGGCCACACTGGGGGGGGCTGTATTTTAGTCCGTTTTTGTATTGCTAT AAATAAATACCTAAGGCTGGGTAATTTATAAAGAAAACAGGCTTAACTGG CTCACAGTTCTGCAGGGTGTACCAAGATGGCTCCAGCATCTGCCTCTCAT GAGGCCTCAGGGAGCATCCAATCATGGCAGAAGGCAAAGGGGGTGCAGAC GTGTCACATGGCAAGAGCAGGAGCAAGAGCAAACCTGAGTTGTAAGCCAC CTATTTGACAGTTACTCCTTTCCTGAGTTTCTTCCATGTATATATGAAAT ATACATGTTAATAAACTTCTGTTTTTCTCTTATCTTTTGTTACAGGGTTC TCAGCCAAGAACTTAAAAGGGTATAGGAAAAATTATTTTTCTTCCCCTAA CATGCTCAAATTGGTACCACCCCTATGAAGGGCAAACTGGCAACATCTAC CAAATTGCAAATGTGTTTCCCCTTCGGCTCTGCAATCCCACATCTGGGAA TCTATCCATATGAAATGCTGTATGAAAAAGATTAATTGCAGCACCGTTTG TATCAGCACCCAAATGCCCATCTACAAAACCTGGTTTAAAAAATTATGGT ATACTCTACACTGGGAAGTTAAGGTAAAAAAATTATTTTTAAAAATGGTA TATCCATATAATGAAATACTATAAAGCATTAAAAAAATCACAAAGAACAT TGTGTGTCTTAACTGTGGTGGTGCCTTCAGGCATATAATTGCCAAAACTC ATCAAATTATATACTTAAATTGGATGCAGTTTGTTGTGGATAGCCTTGAA TAATGCTAACCAGGAAAAAAAGAATCATGGAGCTCTCATAGTGAAAAGGT ATCCAAGATAAACTGTTAACTATGAAAAAGTATAGTGTTGAACAGTGTGT TTAGTGGGTTATCTTTTGTGGTAAGGAGGAAATAATTAGTTATATTTGTT TATATTTGCATTAAGAAATTCTAAGATAGGCTGGGCGTGGTGGCTCACGC CTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTC AGGAGTTCGAAACCAGCCTGGCCAACATGGTAAAACTCCATCTCTACTAA AAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGC TACTTGGGAGGCTGGGGCAGGAGAATTGATTGACCTTGGGAGGTGGAGAC TGCAATGACCTGAGATTGTGCCACTGCACTCCAGCCTGGGAAACAGAGAG AGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAA AAAAAAAGAAATTCTAAGATAAATAAGAAATTAAGAAAATTAGGCATAGA ATAGGGATAAATGGAGCAATTGAGAGCAGGGGTGGAAATGAGATTTTTTT CACTGTATATCTTCTTATATTGATTCTTGAACCATGACAAGTATTTTTAA TACATAAAGCACTTGCACAAAATGGGAAAAATTTGCATACAGACTGTCCC AGAATATATTCTCTTCATTTTAAAGCATTCAAGGTACCTTCAACACTTTC AGAGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show HG00639.hp2 HG02647.hp1 HG02818.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 others(1): Show a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048	4	152	0.0263	-2304	c.562 others(17): Show c.562-3648_562-1345del	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	8/24			chr1	TogoVar
STAU1_chr20_49108339_49193334	49125573	GCGGTGGC others(2296): Show GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCC CGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCAGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATGGCGTGAACCT GGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTCCAGCCTGGGTG ACAGAGTGGGACTCCGTCTCAAAAAGCAAGCAATGAAATTAGTTACCTAC AACAGGTGTGAGGGATTAGGGTAGACAGACGGGATGAGACGGGAATGATA GTTTTGACTTCTGGAAGCATTTACTGTTTTACATATTAAAGAAATAAAAC TAAGTCAACAAAGATGGGGAAAGAATCTAAAATTAAACATGAACAGAAAG TTAGCTGCATATTAAAGTGATTACAATCTCCAAATGGACCAAAGACCTAC ACAGAGGCGCTAACATGCACAACTCTCAGAAGCAAAAACAGGCGAGTCTT CATGACTTTGGGTTTGGCAATTGGTTTTTAAGATATGAAACTAAAAGCAC AATCAACAAGAGGGAAAAAAAAAAGTCACACTTAATCAAACTTTAAAACT TTTGTGTATCATGGACATTATCAAGAAAGTGATTACAATAACACAGATAG AAAATCAGGCTGGGCAGGGTGGCTCATGCCTGTAATCCCAACGCTCTGGG AGGCCAGGGTGGGAGGATCACTTGAGCTCAGAAGTTCAAGACCAGCCTGG CCAATACAGCAAGACCTTGACTCTACAAAAATAAAAACAAAATTAGCCAG GTGTGGTAGTGTGCCCCTGTATGTAGTCCTAGCTATGTGGGAGGCTAAAA CAGGAGGATCACTTAAGCCCAGGAGATCAAGGCTACAGGGAGCTATGATC ACACAACTGCACCCCAGCCTGGGCAACAGAGCAAAACCTCGTCTCAAAAA GCAAAAAAAAAAAAACAAAAAAAAAACAAAAAAACTTAAAAATCTAACCG ATATTAGCCAAGACACTCAAAAAGAAAAATAGAAGACTTACACTACCAGA TTTTAAAACTTCCTATAAAGTCACAACAACTAGGATATGGTTTTGTGTAA GGATAAATAGATCAACAGAACAGCACGAAAAAGACCTGCACATATAAGGT CACTCGATTTTTGGCAAACACACCAAAACAAATTAAAAATCTCTTAAAAA AATAGTACCAGAGCAACTAACTAGGTATCTGCATGGAGCGGGGTGGGGGG AAGAAAAAAAAATCAAACCATGATCTCTAACTCATACCACAACAAAAATT AGACCTAGGATCACTTAAATGTGATCTAAACTAAAATTACAAAGACTTTA TAACAGGAGAAAGCCTCAAGACTGTAAGGCTGGCAAAGAGTTGAACACAA AAGATATCCACCATAAAGAAAAAAGAAATTCCTCAAAATTAAAAACCACT GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGTGGGCAGATCACGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATAG TGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCGTGGTGGC GGGCACCTGTAATCCCAGCTACTTAGGAGGCTGAGACAGGAGAATTGCTT GAACCCAGGAGACGGAGGTTGCAGTGAGCTGAGATGGCACCACTGCACTC CAGCCTGGACAACAAGAGCGAAACACCATCTCAAAAATAAATAAATGAAT AAAATAAAAAATAAACTGCTCATCAAAAGACATTTAAAAAGTAAAAAAGG GGGCCAGGTGCAGTGGCTCACGCCTGTAATACCAACACTGTGGTAGGCCG AGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACA GGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTG ACACATGACTGTAATCCCAGTTACTTAAGAGGCTAACACAGGAGAAATGC TTGAACCCCAGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCAT TCCAGCCCGGATGACAGAGCAAGACTTTGTCTAAAAAACAAAAAAAACTA AAAAAGGGGCCAGGCACATTGGCTCACTCTTGTAATCCCAGCACTTTGAG AAGGCCAAGGCGGGTGGATGGCTTCAGTCCAGGAGTTTGAGACCAGCCTG GGCAACATGGCAAAACCCCGTCTCTACAAAAAAAATACAAAAATTGGCTG GGCT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	366	0.0027	-2303	c.610 others(16): Show c.610-3289_610-987del	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
METTL21A_chr2_207607739_207630394	207609758	TAGAAAAC others(2295): Show TAGAAAACCTATTCCCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCCACGGTCTCCCTCTGATGCCGAGCCAAGGCTG GACGGTACTGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTC CTGCCTCAGCCTGCCGAGTGCCTGCGATTGCAGGCGCGCACCGCCACGCC TGACTGGTTTTCGGTTTTTTTTGGTGGAGACGGGGTTTCGCTGTGTTGGC CGGGCTGGTCTCCAGCTCCTAGCCGCGAGTGATCCGCCAGCCTCGGCCTC CCGAGGTGCCGGGATTGCAGATGGAGTCTCGTTCACTCAGTGCTCAATGG TGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCGCTGCAACCACCTC CCAGCCGCCTGCCTTGGCCTCCCGGAGAGCCGAGATTGCAGCCTCTGCCT GGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCTTGGCCACCCAT CGTCTGGGATGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTG AGGAGCGTCTCTGCCCGGCCGCCATCCCATCTGGGAAGCGAGGAGCGCCT CTTCCCCGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCC GCCCATCGTCTGAGATGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGG GATGTGAGGAGCGCCTCTGCTGGGCCGCAGCCCTGTCTGGGAGGTGGGGA GCGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTG GCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTCCGGCAACCACCC CGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGCAGCCACCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CGCCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCC GGGAGGGAGGTGGGGGGGTCATCCTCCCACCTGGCCAGCTGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGTCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGTCGGCCAGCCGCCCGGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCTTCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGACAGCCCCCCGCCCAGCCAGCCGCCCTATCCA GGAGGTGAGGGGCGCGTCTGCCCGGCCGTCCCTACTGGGAAGTGAGGAGC CCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCG TCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCACGATGACAATG GCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAA TCGGATGGTTGCCGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTT CATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGAT CTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCA CTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAG ATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTT AAGTACCCAGGGACACAAACACTGCGGAAGGCCAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACAC CCAAGAATGATCAATAAAAAAAAAATAAATTAATTAAAAAAAAAAAAAAA AAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(352): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.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 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.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 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.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 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19089.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 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0003c0004 a0004c0005 a0005c0007 a0006c0006 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0002t0013 a0001c0008t0009 a0003c0004t0005 a0003c0004t0009 a0004c0005t0001 a0005c0007t0010 a0006c0006t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0015 others(114): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0002g0003 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0020 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0004g0018 a0001c0001t0004g0039 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0005g0025 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0068 a0001c0001t0005g0082 a0001c0001t0006g0122 a0001c0001t0008g0027 a0001c0001t0011g0117 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0026 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0055 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0087 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0004g0008 a0001c0002t0004g0040 a0001c0002t0004g0127 a0001c0002t0006g0120 a0001c0002t0006g0121 a0001c0002t0006g0123 a0001c0002t0006g0124 a0001c0002t0007g0019 a0001c0002t0007g0041 a0001c0002t0012g0119 a0001c0002t0013g0129 a0001c0008t0009g0063 a0003c0004t0005g0069 a0003c0004t0009g0116 a0004c0005t0001g0095 a0005c0007t0010g0061 a0006c0006t0001g0088 a0007c0009t0001g0115	355	386	0.9197	-2302	c.98 others(10): Show c.986_*3287del	METTL21A	ENSG00000144401.14	transcript	ENST00000411432.6	protein_coding		2980		chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15931585	GAGAGGAA others(2293): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG CAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGCGAG A	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0113 a0001c0004t0113	a0001c0004t0113g0212 a0001c0004t0113g0212	1	386	0.0026	-2300	c.198 others(16): Show c.198+326_199-1985del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DLGAP2_chr8_732628_1713476	1398564	ATCCTCCT others(2293): Show ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGT GCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTG CCACCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCAC CTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCAT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCTACCTCCTCGTCCTCCAGAGTCGTGTA TTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTCATCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCT CCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTT GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCC TCCGGAGTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGT GCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTT ACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCAC CTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGG GTAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAG CGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CATCGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTC G	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	40	0.0250	-2300	c.107 others(21): Show c.107-102795_107-100496del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GALNT9_chr12_132191372_132334589	132232257	TCCCTAGT others(2293): Show TCCCTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCT AGTGCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACAC ACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGCCACACAC TCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTC GATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCGA TGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGACAGGAGACA GCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTG AGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGA CAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGC GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCAT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAG C	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02683.hp1 NA18964.hp2 others(3): Show HG02027.hp1 HG02683.hp1 NA18964.hp2 NA18999.hp2 NA19002.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0001c0013 a0001c0020 others(1): Show a0001c0011 a0001c0013 a0001c0020 a0003c0033	a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 others(1): Show a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0003c0033t0001	a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0013t0004g0036 others(3): Show a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0020t0001g0115 a0003c0033t0001g0114	6	183	0.0328	-2300	c.107 others(21): Show c.1077+13353_1077+15652del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
CRPPA_chr7_16082525_16426538	16132148	CAAAGAGT others(2292): Show CAAAGAGTGATCTTGAGCCTTATGAACTAATGGCATTTGCCTTAGGTTTT GAACTTACATAGGACTGGTTACTCCTTTCTTCTTTTCTATTATCCGCTTT CAGAGTGGTGATGTCCATCGTATGCCTGTAACATTATTGTATTTTGGAAA CATATAACATGTTTGTTTCACAGGTTCCCAGCTAGAGAACAATTTGCCTC AGGAGACCTTGACTACAGTGATGAAGACAGGATCTAAACAAATGAGTCTT AGATACATAATGAAGAAAGCATATATAGAATTCTCTCGTTGAAAGAGAAT AGAAAGGATTAAGAATGACTCAGGACTTTGTAAAGGGAAAATAGTACTCA AAAAAGTAAAATTAGAGAAGTATATGTTTTAATGAGGTTAGAAAGAGGTA GAAAGTGGAAAAAGAGATTGAGTAAATGATTTCTTCATATGAAACTAAAG TCTATAGTAGGTTTTATAATACCATTGACTCTTGAACCACATAAGCTTGA ACTGCATGGGTTTACTTACATGCAAATTTTTAAAAAGGAAATTTACTGAA AATTTTTTTGGAGATTTGCAACAACTTGTAAAAATTGGCAAACATTGTAG CCTAGAAATACCAAAAAAATAAAAAGTTAGGTATGTCATGAATGCACAAA ATATATGTAGATGCTAGTCTCTTTCATCATTTACTATAATAAAATATGCC CAAATCTATTGTAAAAAGTTAATATTTGGCTGGGCATGGTGGTTCATGCC TGAAGTCCCAGCACTCTGAGACGCTGAGGTGGGAGGACTGCCTGAGCTCA GGAGTTTGAGACTAGTCTGGGAAACATAGTGAGACCATGTCTCTACAAAA AATACAAAAATTAGTCAGGCATAGTGGCCTGTGTCTGTAGTTCCAGCTAC TTGGGATACTGAGGTGGGGGGATCACTTGAGCTTGGGATGTCAAAGCACT TGAGGTCAGGAGTTCAAGACTAGCCTGGACAACATGGTGAAATCCCATCT CTACTAAAAATAAAAAAAAGTTAGTTGGGTATGGTGGTGCATTACTGTAG TCCCAGCTACTTGGGAAACTGATGCATGAGAATTGCTTGAACCCAGGAGG TGGAGGTTGCAGTGAGCTGAAATCACACCACTGCACTCAACCCTGGGTGA CAGAGTGAGCATCTGTCTCAAAAAAAAAAAAGGTAAAATTTATCAAAACT CAATGCACACAACCACTTACAGACAATACACAGCACCACTTGCAGTCAAG AGAAATGTAAACAAATTTATAGTATTAAGCTACAACTGCATAAAATTAAG TGTAATACATAGTATACTACTGTAATAATTTCATAGCCACCTCCTGTTGC TATTTCAGTGGGCTCGAATGTTGCAAGTATCTGCTTAAAATGCTGTGTGA TGCTAATCATCTCCACATGAGCAGTTCATCTCTCTAGTAAAATGTGTTAT GATAGTAAAAAGTGATCTCCCATGGTTCTTAGGTATTTTTCATCATGTTT AGTCTAATACTGTAAACCTTGCATAACACCATGGGAGCCATACAAAGTAC CACTGATGATGCTGGAAGTGCTCTCAAAAAGTTAAGAAAAGTCATGGCAT TACCAAACAAAAAAGCTGAAATGCTTGATATGTACCACAGATTTAGGTCT GCAGCTGAGGATGCCTTCCATTTCAGAGGATTCATCTTGTAAAGAAAGAG ATGAGGTAAACTTACCATATCAACAAATACAGTATTGTAAATGTCCTTAT GATTTTCTTAACATCTTCTTAACATCATCCTTATGATTTTCTTTTTTTTT CCGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAAT CTCGGCTCACTGTAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTA ATTTTTTGTATTTTTAGCAGAGACGGGGTTTCACCATGTTAGTCAGGATG GTCTCAATCCCCTGACCTCGTGATCCGCCCGCCTCGGCCCCCTAAAGTGC TGGGATTACAGGCGTGAGACGCCACACACGGACCTTATGATTTTCTTCAC ATCTTTTCCCTAGCTTACTTTATTGTAAGAATGCAGTATATAATACATAC AGCATACAGCAGGGGTCTGCAACCCCCAGGCTACAGACCACTACCAGCCC ATAGCCTGTTAGAACCTAATGATAAATGTAATACACTTGAATCATCCTGA AACCATCCTCCCACCGACCTCTGTCCATGGAAAAATTGTCTTCCATGAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(119): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02602.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0009 others(1): Show a0001c0001 a0002c0002 a0002c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0058 a0001c0001t0059 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0077 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0002t0012 a0002c0002t0020 a0002c0002t0031 a0002c0002t0033 a0002c0002t0049 a0002c0002t0068 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0009t0006 a0006c0008t0063	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0070 others(119): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0098 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0006g0078 a0001c0001t0006g0082 a0001c0001t0006g0090 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0138 a0001c0001t0006g0157 a0001c0001t0006g0172 a0001c0001t0009g0030 a0001c0001t0009g0084 a0001c0001t0009g0163 a0001c0001t0009g0165 a0001c0001t0012g0045 a0001c0001t0012g0068 a0001c0001t0018g0089 a0001c0001t0018g0099 a0001c0001t0018g0122 a0001c0001t0020g0051 a0001c0001t0020g0198 a0001c0001t0030g0129 a0001c0001t0030g0141 a0001c0001t0031g0091 a0001c0001t0032g0028 a0001c0001t0032g0029 a0001c0001t0035g0034 a0001c0001t0035g0097 a0001c0001t0043g0005 a0001c0001t0044g0002 a0001c0001t0046g0004 a0001c0001t0058g0134 a0001c0001t0059g0180 a0001c0001t0066g0196 a0001c0001t0067g0022 a0001c0001t0069g0058 a0001c0001t0070g0131 a0001c0001t0071g0147 a0001c0001t0072g0113 a0001c0001t0073g0140 a0001c0001t0075g0191 a0001c0001t0077g0027 a0002c0002t0001g0226 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0264 a0002c0002t0001g0272 a0002c0002t0001g0282 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0259 a0002c0002t0002g0262 a0002c0002t0002g0275 a0002c0002t0006g0260 a0002c0002t0009g0225 a0002c0002t0012g0221 a0002c0002t0012g0280 a0002c0002t0020g0223 a0002c0002t0031g0236 a0002c0002t0033g0220 a0002c0002t0033g0271 a0002c0002t0049g0219 a0002c0002t0068g0256 a0002c0002t0078g0228 a0002c0002t0079g0233 a0002c0002t0080g0237 a0002c0009t0006g0212 a0006c0008t0063g0036	122	290	0.4207	-2299	c.125 others(21): Show c.1252-42648_1252-40350del	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	9/9			chr7	TogoVar
GGACT_chr13_100525180_100593789	100557000	ATGCCTCA others(2291): Show ATGCCTCAGCCTCCCAAGCAGCTGGGACTACAAGCATACACCACCACGCC TGGTAATGTTTTTCTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCC AGACTGGTCTCAAACTCCTAGCCTTAAGTGATCTGCCAGACTTGGCCTCC TAAAGTGCTGGGATTACAGGCTTTAGCCACCATGCCCAGCCCGAAGTTTC TATTTCAATACTTAACTACAAAGTTACAATAAACAAGACAGTGTGGAATT AGAGAAAAGATATGCATTAAGGTTGATGGAACATTCTTTTTGAGATAACG TGATATGGAATTAGTGGTGCGGGCTGCACAACTTTGTGAATATACTAAGA CCCACTTACTTGTATACTTTAAAGTGGTGACTTTTATGTTGTGTGAATTA CTTCAATTAAAAAACAAAAACTAGTTAAAAAAATCAATGGTACAGAACAG AGTCCAGAAGTAGACCCCTACTTGTAGGGTCAACTGTTTTCAATAAAGAT GCCAAAGTAATTCAATGGGGAATCTATAGACTTTTAAACAATGGTGCTGG AACAACTGCATATCCATATGCAAAAAAAATAGATTTTTAAAAACCTCTTA TCTCACTCCCTATACACTAATTAACTCAAAATGTATCCAAATATAAGAGT TAAACTTTCTAGAAATCTTTTGATAGGACACAAAAAGCACAAATAATAAA AGAAAACATGAATAAGTTTTGACTTCAGAATTTAAAACACCTACTCTCAA AAGACTCGGGTGAGTAAATGAAAAGGCAAATGTAGACAGAGAAAATATCT ACAAAATAGCTATCTGATAAAGGACTGTTATCCAGAATATACAAAGAACT CTCACACCTCAAGAAGAAGAAAAACAATCCAATTAAAAGTAGGCAAAACA AAGGCTGGGCACGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACCTGTCGGGAGTTTGAGACCAGCCTGACCAACATG GAGAAACCCAGTCTCTACTAGAAATACAAAATTAGCCGGATATGGTGGCA CATGCCTGTAATCCCAGCTACTCTCGAGGCTGAGGCAGGAGAATCACTTG AACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCGCTCC AGCCTGGGCAAGAGGAACGAAAAACTCCATCTCAAAAAAAAAAAAAAAAA AAGTGGGCAAAACAGCCAGGTGCTGCAGTCCTCTTTGGGAGGCTGAGGCA GGAGGACTGCTTGAGCCCAGGAGTTAGAGACCAGCCTGGGAAACACAGCA AGACTACCTCTCCAAAAAAACCAAAACCAAACAAACAAAATGTGCAAAAG ATTTAAACTGACACTTTACCAAAGACCTATGAATCTCATGTAAGCACATG AACAGATGGATGCTCACTATCATTAGTTATTAGGGAAATGCAAATAAAAA CCACAAAGAGATACCATTAGAGTGGCTAACATTGAAGACTATTAATACCA AGTGTTGGCAAGATGTAGAGTAACTGAAATGCTCATACATTGCTTCTGGG AATTCAAAATGGTACAGCAACTCTGGAAAGCAGTTTGACAGTGTCTTTAA AGTTAAACATACATTTACCATACAACCCAGCAATTTCACTTTGGGGAATA GACCCAAGATAAATGAACTCATATATCCACATAAAGACCTGTACATGACT GGAGGATGCTATGTGAAATGAAATAAGCCAGGCGTAGAAAGACAGATACT GCATGTTCCTGCTCACATATGGAATCTGAAAAACCTGACCTCCTAGGAGC AGAATGGTGGTTATCAGAGGCTGAGGTAGCTAGGGGGAGAGGGGATGGAG AGAGGTTGGTCAGAGAGCACACATTCACAGTTAGATGAGAGGAGTTAAAA AAATAAAAGAAAAATCTCCAGAATAGGCAAACATACAGAAACAAAAACAA GTAATTGCCTGGAATTGGGGTGTAGGGGTGGTGGGTGTGGAGGATGGAGG AGGAGAGAAATAGGGAATGACCACTAATGGTTATGGAGTTTCTTTAATGG ATGATGAAAGTGTTCTAAACCCACCACGGTGATCCATTTTATGAGTCAGA GCACAGCTCTGATGATGGTAAATGCAGCTCTGCACAACATCCCAAAAAAC CACTGGACTATACATTTTATTTTACTTATTAATTTATTCATTCATTAATT CATTTTTGAGACGGAGTCTCATCTGTTGCCCAGGCTGGAGTGCAATGACA CAATCTTGGCTCACTGCAACCTCCGCCTCCCTGGCTCAAGCGATTCTCC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18984.hp1 NA19088.hp2 HG00673.hp1 NA18984.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0044 a0001c0001t0001g0335 a0001c0001t0001g0336	3	376	0.0080	-2298	c.-11 others(19): Show c.-11+24527_-10-24400del	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
ZNF678_chr1_227558556_227667461	227589041	ACCTTTGT others(2291): Show ACCTTTGTCAGATGGATAGATTTCAAAAATTTTCTCCCATTCTGTAGGTT GTCTGTTCACTCTGATGATCATTTCTTTTGCCGTGCAGAAGCTCTTTAGT TTAATTAGATCCCATTTGCCAATTTTTGCTTTTGTTGCAATTGCTTTTGG CATTTTCATCATGAAAACTTTGCCTGTGCCTATGTGCTGAATGGTACTAC CTAGATTTTCTTCTAGGGTTTTTATAGTTTTGGGTTTTACAAATGTAAAA GTCTTTAATCCATCTTGAGTTAATTTTTGTGTATGGTATAAGGAAGGGAT CCAGTTTCAACTTTCTGCATATGGCTAGCCAGTTATCTTAGCCCCATTTA TTAAATAGGGAATCTTTTCCCAATTGCTTGATTTTGTTAGGTTTGTCGAG GATCAAATGGCTGTGTAGCAGGACGAGCTGCAGACAAAACTCCTCAGACA CTGAGTTAAAGAAGGAAGAGGTTTATTCAGCTGGGAGCATTGGCAAGACT CCTGTCTCAAGAGCCAAGCTCCCCGAGTGAGCAATTCCTGTCCCTTTTAA GGGCTCACAACTCTAAGGGGGTCCACGTGAGAGGGCTGTGATCAATTGAG CAAGCAGGGGGTGCATGACTGGGGACTGCATGCACCAGTAATCAGAACGA AACATAACAGGACAGGGATTTTTACAATGCTCTTCCATACAATGTCTGGA ATCTATAGATAACATAACAGGTTAGGTCAGGGGTCGATCTTTAACTATCA CGCCCAGAGCACGGGGCCGGGCTTTCTGCCTGTGGATTTCATTTCTGCCT TTTAGTTTTTACTTCTTCTTTCTTTGGAAGCAGAAATTGGGCATAAGACA ATATGAGGGGCAGTCTCCTCCTTTATTCCCCCACTTTGAGACTCTCACTC ATTTTATTAGTGGGAGTTCTCACTTTTATCTTTACCATCTGTGTCTCCCT GCATGACAGATAGTGATTTATTGTAATACACTTCTGCTGAAGCATTCTGG TGAACTAGAGTAGCGATGAAACCTTTTACCATTTGAATGAGTGCAGGTAG TAAATAAGGGATCAGTAAGCAGGTTCCTATTACTACTATAATTTTTATTA TAAGAGTTTTAAATCCTCCTAGCACTGGGAACCATTTTTAAACATGGCCT CAGGGTCAAATCCGTGCCACACTTGTACAGGCACTTGCCAGTTTCATCAT GTCTTTAACTGTATCTTCGACTACTTGCCCCTGATCATCTATGTGCAGGC AGCAGTTGGTAAGGTTAAATTTTCTACAGACTTCTCTTTCAGCTGCTAGC AAGTAGTCGAGAGTCAGTTTATTTTGATAGATAACATTTCTCATCTGAGT TTCTTGCCGGGCCAGAACAGTCAAGGTTTTACCAGTTTTATTAGTGATAA TCTCCAAGACAGCAACTACATGATTTGGTTGAGCATGTTAATGGGGGTTG GGTATCCCCACGAGCCGTCTTGTGCCCAAGCGGCAGGCCCATAGTATTGT ATAATTTTTTCAGGAGGCCGTTTATCATCTTTTTAATTATCTATGGCTAT GCTTCTCTTTTCGCAGGAAGCATAGACAGGGAAGCCCAGGAGTTCGCCTG TTTTTATGGGCAGTAGGAAGAAAGATGGTTTAATAGTGCCAATAACACAA CTACCTGTCCACTGATCAGGCAGCTTAGTGTAGGCTCTATGTCCACATAT CCATTATAGCCCGGTGGGGGCCGTCCAGTCCCAGTGGAATTCTGGGTAGG CCTAAATGGTCTGCAGCTTTGGAAATTTACTCTGTGTCGTTTGAACTCCA CCATGTGGTCTTCCTACAGGAAGGGTGAACTCCTTCCCCACTCTTGCTAT ACAGTATTGCCTAATCATTGAGGCTTTTAGGACCTAGAAGTGATCAGGGT GATTCTTTTGGGCCGGGAATTCATTCAGGAACTGGGTCTGTAGGTACTAA TTCTCGGGCTTCCTATGGCCATTGATCTCCTATTACAGTTCCTCCACATA CATAACATGAAGTGACATTGAGAGACTGCGCTACATGCTCGGCTAATTGC AAAAACAAATTTCTTGTTTTTCTTGGAATTTTTGGTACTGGCACATTTAG TTTATTGTAGAAGGTTTGAAATACTGGCTCAGGAGAGCGTTTATAAACTT TTTCTCAAACCACGATATTTACTTGAAGATCCAGTCCAGCTCTATCAATT TTTAGGGTTACACGTTCCCCTTTTTTCTAACGAGGATTAAGGGTTATTAC TAGTTCTAAGGGGTTACACTGACCACTGGTACAGGAAGGGCCACTTTTC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02486.hp1 others(3): Show HG01168.hp1 HG01169.hp1 HG02486.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0001c0001t0003 a0006c0006t0002 a0001c0001t0002 a0001c0001t0003 a0006c0006t0002	a0001c0001t0002g0024 a0001c0001t0002g0324 a0001c0001t0003g0228 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0324 a0001c0001t0003g0228 a0006c0006t0002g0020	6	394	0.0152	-2298	c.-16 others(21): Show c.-164+25322_-164+27619del	ZNF678	ENSG00000181450.18	transcript	ENST00000343776.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NLN_chr5_65717205_65834283	65732256	TAGAAAGA others(2290): Show TAGAAAGACTCTGCCCAGAGGGATGGCCCGGGCCAGATGCTACAGAGAGA GACATGCAGGGAGCTAGTTAGTCAGGGGTTCAGATCTAGGGAGGGTGCAT TTGTGAATTCCTTTTTAGGAAGTGTGTTTGAAGTTAATATGATGAAACTT ACACTTCATATAGAGGAGAGTATGAAAGAAGGGAAAGTGCATCAAACCTG TGCGTTTCACAGTAGAAGCTCCGTCCTCACAGCTTAGTAAACACCAATGA TCCTGTCTCTAATTCTCTGTCTGTAAAAGGTTCTTTTGAACCCCAGGAAA AGTAGTTGACATGAGAAAAGCGTGCTTCTTGGACAGAGGTGAGGGAGTAG GCAGGAGAGTGGTATAAAGTGATAGGTGGTTTGCAGACGCGGGCACGTCA GGGAACCTTTGCAGACAGGTGGCCCTAGCTGATGTCCCTAGACCTTGCTC AGTTGAGTTCTTTGTGCACATCTCCCACTGGGCTCCTCTGGCCCAGAGAT GAGGTTGTCTGCTGAAAGATGCAGTAAAGAGGCTTTAAAGATTTTGTGGC CTTGAACCAATCACACAAGCAAGGCTGAAAGGACTGAGCCTAAAATGGAG CTGCCCCTGAATGATCTGAGTCTTCATCAGGCAGCACCTTGCACACAGAC CATCATCTGATGATGGGAACAAACTTGTGTTTGGGTGAAACAGGCTTCCC CATTGCAGTTACTATAACACCTGTGTGGTAGTAAGGTGCAGAATTACTCA ATGCCCACTTCAAGTTTACCATTGAGATGATTTCCCACCCCCCTCCTCTA ACTGGCACCATTGCCCATAACTAATTTCTTGCTCTCCCCAGGTGCCTCAA GAACCTCTTGGGGGCCTTTATATTCTGTCATGCTTACCTAGCTGATCGGG ACATGGAGTGTCTGTCTTAGTAACCAAGCCTCAGTCAGCTAAAGGAGCTG CATCTGATTCATATCCTAATGTGGACCACCAATCTTGAGCCCCTTGGAGC TCTGCTAGAGAAAGTTGCTGCTACTCTCGAGACCCTCACGTTAAAGGACT GTCAGATCCAGGACTCCCAACTCAGGCTCCTCCTGCCTGCCCTGAGCCAC TGCTCCCAGCTCACCACCTTCTACTTTCATGGAAACGAGACCTCCATGAA TGCTCTGAAAGACCTGCTGTGTCACACAGGCGGGCTGAGCAAGTTAGGCC TGGAATTGTATCCTTCCCATCTGGAGAGTCTTGACAACAGGGGTCATGCC AATTGGGAGATCCTTGCCCCAATTCGGGCTGAGCTGATGTGTACAGTCAG GGAAGTCAGGCAGCCCAAGAGGATCTTTTTTGGTCCCGTCCCCTGCCCTT CCTGTGGCTCATGGCCATCTGAGAAAGTGGACCTCCATCTTTGCTCTTAG GGAAGGCCTGATTAGTGGGATGGATACGCTTTCTTCTGGACCCTTGGGCA CTAAAATCTAGGACACAGGTGCTTTTTTTTTTTTGATGGAGTCTCGCTCT GTCCCTCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCC ACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGT GTTACTGGCATGCACCACCACACCCAACTAATTTTGTATTTTTTTTTCTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCACT GGCACGACTTCGGCTCACTGCAACCTCTGCCTCCAGGGTTCATGCCATTC TCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGTGTCCACCACCACA CCCAGCTAATTTTTGGTATTTTTAGTAGAGTCAGGGTTTCACCAAGTTAG CCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCC CAAAGTGTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACGATGTTGG AGGAGGCTGGCCTCAAACTCCTGACCTCAAGTGATCTGACTACCTTGGCC TTCCACAGTGCTGGGTTTACAGGCATGAGCAGCCTGGCCCGGTCAGGTGC ATCTTAAAGGAAGCACACGGTCATGTGTTTCAGGCACGTGCTGACTGTGA GTGGAAAAACAAAGGTGACTCAGCTGGGGGCAGAACTGGGTGAAAATGCT GACTTGGCATCAATAAAGCCTTCAGGGACCTGTTTCCTAGACTCAGAAAT GGAACCTGAAGTTCTAGAATGATGCAGGAGTTACCCTCGCACGGATGGTT ATTTAAAAATGTCAAAAATAAATGGAACCTGAATGGAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG00735.hp1 others(59): Show HG00438.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01243.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01981.hp1 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18948.hp1 NA18962.hp1 NA18973.hp2 NA18980.hp2 NA18988.hp1 NA18991.hp2 NA19006.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19062.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0007 others(7): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0015 a0002c0003 a0002c0004 a0002c0016 a0003c0005 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(27): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0002t0004 a0001c0002t0054 a0001c0007t0019 a0001c0014t0057 a0001c0015t0004 a0002c0003t0010 a0002c0003t0018 a0002c0003t0049 a0002c0003t0058 a0002c0004t0018 a0002c0004t0041 a0002c0004t0044 a0002c0016t0035 a0003c0005t0021 a0005c0009t0036	a0001c0001t0002g0258 a0001c0001t0004g0266 a0001c0001t0004g0271 others(56): Show a0001c0001t0002g0258 a0001c0001t0004g0266 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0289 a0001c0001t0004g0291 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0305 a0001c0001t0005g0262 a0001c0001t0006g0263 a0001c0001t0020g0018 a0001c0001t0026g0019 a0001c0001t0027g0278 a0001c0001t0027g0295 a0001c0001t0028g0307 a0001c0001t0028g0308 a0001c0001t0048g0265 a0001c0001t0050g0310 a0001c0001t0051g0299 a0001c0001t0052g0284 a0001c0001t0053g0300 a0001c0001t0055g0304 a0001c0001t0056g0260 a0001c0002t0004g0288 a0001c0002t0054g0273 a0001c0007t0019g0290 a0001c0007t0019g0292 a0001c0007t0019g0309 a0001c0014t0057g0306 a0001c0015t0004g0264 a0002c0003t0010g0261 a0002c0003t0010g0268 a0002c0003t0010g0270 a0002c0003t0010g0283 a0002c0003t0010g0286 a0002c0003t0010g0287 a0002c0003t0018g0267 a0002c0003t0049g0269 a0002c0003t0058g0285 a0002c0004t0018g0282 a0002c0004t0018g0293 a0002c0004t0041g0311 a0002c0004t0044g0259 a0002c0016t0035g0257 a0003c0005t0021g0017 a0005c0009t0036g0256	62	336	0.1845	-2297	c.41+ others(16): Show c.41+9859_41+12155del	NLN	ENSG00000123213.23	transcript	ENST00000380985.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRAPPC9_chr8_139722725_140462744	139960609	TCAAGTCT others(2290): Show TCAAGTCTGGACTCTGCCTCTCGCCAGCTGTAGGCCAGGACTCACCAATC TCTCCGTCCTCAACGGAGAAGCCAGAATCCTGCCTGTTAGCCAGAGTTGT GGAGAGGACGGTGACCATGTGGGGGACACCCAAGCACCCCACCTGGCCCT CAGGAAGAGCCCCAAGTGACAGAGCTGCTGTCCCTTCTGCACTCCTGCCA CTGCAGCTGGTGGGGCTCAGCTTGCATGGGGGCTCCACAGCAAGTCACAA TCTGTTCCCAGTGGTGCCCGTGAGGAGCCAGTAGGGACAAATAATGGTTG TTCGGTGGCTTAACCCCTAACGTTTTAGGATTTCCCTTCAGGGTCCACGT GTCCCCAATACCAAGTTCCATAAAACAAGCAAACAAATAACAAAACATCT CCTTTTGTAACCCCTTCAGAGCTAGAGACAGGAAGAAAAAAACAAACAAG GCAGATTACAGGACATGAGATCCCAACACAGAACGTCCTTCTCCTGGTAT ATGCTGAAGAGGAGGACAGCAGGAAACCCACATGTGTCCTCGGACAAACC CACGTGTGTCCTCAGCTGCGCCTGCACATTTCTACCGTCTGCCCACTACA CAGAGCAGGGATAGCTGTGAGCACACAGGCTCTGGTTCAAGGGCCTTCTT TCTATATGATGGCAGTAGCTGCTGCCATCATGCCGGCTGTGGCAGGGAGC ATGGCAGGGAGGCATGGCTGGGGCTGTATACTCCATGGAGCCAGTGAGAG CCCCACCCCTTCTGAATTGGAGTGGGAGCACCTGGGGTGCCACAGCTGCC CAAACCACCACCCAAACCATAGCTGCAGACCCAGGCCTCCTGCTCTACGG AGCAGGCAAGAGCCCCACCCTACTGGGCAGGGCTACAGCCACTGAAACTG CAGCTATGGAGCCAAGCCTCCCTGTGCTCTCAGGGGAGCCAGGAACAGGC AGGAACTGCCTTCCCAGGTGTGGTTGCAGCCATCCTCCCAGGTGCAGGAC CTGGGCGTTTCTGCAGCCTGTAGCCTGCACCCTTGGGGGCCCCAGAAAGG ACCCTCCCCTCATCCCTGCAGGCTCAGGGGTGTCTGCTCCCACTGCCTGG CCTCTCTCAGCTCCTGGTGCCTGCTCTGATCTCAAAGCGGGGGACTTGTG CTGCCTCTTCTGGACCCACCCATGGCTGCCTATGGACCAGTCGGCAGGCA CTTCCTCGCCTGTGAGGTTTATAAAAGCCCCAGACTCAGCCAGGGTAGAA GAGAGGATGACAGAGGATAGCCAGAGGACAAACAGGGCAGAGAGATGACG GGATGACCAGCTGCAGAGACAAATAACCCCTCTGCTGATAGCTGGAGATG ATGGGACAACCAGCTGCAGAGAGGAGCTCCTCTCTCTGCTGAGAACTGCA GACATCAGGACAACCAGTTTCAGAGGAGCTACCCTCTCCAGGGCCTCTTC TCTGCTGAGAACTGAACACTTGAAGGATGACTTGCCTACAAAGAGGAGCT ATCCACTGTGGTCTCCTCTAGCTGTTGTAACACTCAATGACGCTCATCTT CATCTTGTTCACCCTTCATATGTCTTTGTACCTCAGTCTTCCTGGATGCA GGACAAGAACTCGGGCAAAGGCACCACTGGCCGCAGAGATTTCCGGGAAG AAAATCGGCACTCCAAAGATCCCAAGATCCCAGAACAGTAAGATTCAGTG TCTGTAACATATCACATGCTAAATAGCTATTATAACACATCAGAATAAAC TTGATAGCCATCCATAAGCCGTGAAGCTGAGCAAAGGCACCAAGGTGTAA GAACACAAGTTGTATGTTCTCTTTTTTTCATTCATCCATTCATTCAACAC ACACACAGTATTTGTGGTTTTTCAGTAGTATCTATCATCCAAACACCATC ATATCCTGCCTCTTCCATCTAGTCATTGGAACATTTATCCATGTTGCCAG AATAAACTTGGGGTGAGCCTGAAGTTGGACCTTGACATGGTGCCAGACAT CAGTCCCAATCCTGGAGAACCCACTGCCATTCTCCCAGCCCCACTGGAAG CATGTGGCCACGGTGACCAGGAGGACACATGGACTTTCACAGCAGGACCC AAAGAGCTTCTGCAAGAACCCACCAGAGCTCCCTCCCCTGTCAGCTCAGG GAGGCCCAGCATCACAGCCTTGAGCAGCATAAGGGTCCTTATAATGGAGA GAGGGAGGCAGTTGGGTTGGAGCCACAGAAGGAGGCAAACTTATGCAGAG GCTGGAGGGAGGCTGGGCCATGAGCCAAGGAGTGCAGGGGCCTCAGGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00642.hp2 others(15): Show HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG03041.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0019 a0001c0024 a0001c0027	a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 others(9): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 a0001c0002t0002 a0001c0003t0002 a0001c0003t0005 a0001c0004t0001 a0001c0004t0004 a0001c0005t0004 a0001c0019t0031 a0001c0024t0016 a0001c0027t0012	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0071 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0009g0072 a0001c0001t0024g0061 a0001c0002t0002g0003 a0001c0002t0002g0028 a0001c0002t0002g0049 a0001c0003t0002g0020 a0001c0003t0002g0046 a0001c0003t0005g0013 a0001c0004t0001g0085 a0001c0004t0001g0097 a0001c0004t0004g0087 a0001c0005t0004g0079 a0001c0019t0031g0055 a0001c0024t0016g0050 a0001c0027t0012g0012	18	98	0.1837	-2297	c.281 others(21): Show c.2810+25820_2810+28116del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	19/22			chr8	TogoVar
PHF8_chrX_53931680_54049473	53969591	ATGACATT others(2289): Show ATGACATTCTTCACAGAAATAGAAAAAGCAATCCTAAAATTCACATAAAA CTGCAAAAGATGCCAAATAACTAAAGCAATACTGAGCAGTAAGAACAAAG CTGGAAGCCTCATACTACCTGATTTCAAATTATATTACAAAGCTACAGTA ACCAAAACAGCATGGTACTGGCATTAAAACAGATACATGGGCCAACAGAA CAGCATAGAGAATCCAGAAATAAATCCACCCACTTATAGCCCACTCACTT TCCACGAAGGCACCAAGAACATTCACTGGGGAAAGAACAGTCTCTTTAAT AAATGGTGTCAGGAAAACCGAATACCCATATGCAAAAGAATGAAACTAGA CCTTTATCTCTTGCCATATACAAAAAAATCAATTGAAAATGGATTAAAAG ACTTAAATGTAAGACCTGAAACTATGAAACTACTACAAGAAAATACTGGG GAAATGCTATAGGACATTGGTCTGGGCAAAGATTGTTTTGGAGTAAGAAC TCAAAAGCACAGGCAACAAATGCAAGAATACACAAATATAATTACATTAA GCCAAAAAGCTTCTGTACAGCAAAGGAAACAATCAACAAAGTGCAGAGAC AACCCACAGAATGGGAGAAAATATCTGCAAACTATCCATCTGACAAGGGA TTAGGATTAATAACTAAAATATATAAGGAACTCAATAGCAAAAAACAAAT AATCCAATTTAAAAATGGGCAAAATACCAGAACAGACATTTCTCAAAAAA AGACATAGAAATGGCCAACAGGAGCTCCTAAAGGAAGTACTTTAGTAAAA ACACACTGAAGTATACAGACCAGTGACACTATGAAGCAACCATATAAACA AGTCTACAAAATAACCAGCTACCATCATGATGACAGGATTAAATTCACAC GTAACAATATTAACCTTAAATGTAAATGGGCTAAATATGCCCCAATTAAA AGACATAGAATGGCAAGCTGGATAGAGTCAAGACCCATCAGTATGCTGTC TTCAGGAGACCCATCTTAAGTGCAGACACACATAAGCTCAAAACGAAGGG ATGGAGGGAAATTTACCAAGCAAATGAAAAACAGAAAACAGCAGGGGTCA CAATCCTAGTTTCTGACAAAACAGACTTTAAATCAACAAAGATCAAAAAT GACAAAGAAGGGCATTACATAATGATAAAGGGTTCAATTCCACAAGAAGA CCTAACTATCCTAAATATATATGTACCCAATATAGGAGCACCCAGATTCG TAAAGCAAGTTCGTAGAGACCTACAAAGAAACGTAGACTCCCACACAAAA ATAGTGGGAGACTTTAATACCCCACTGACGATATTAGACAGACCATCTAG ACAGAAAATTAACAAAGATATTCAGAACCTGAACTCAGCTCTGGATCAAG TGGACCTGATAGATATCTACAGAACCCTCCACCCAAAAAACAAAATATAC ATTCTTCTCATCACCACATGGCACTTTAAAATTGATCACATAATCGGAGG TAAAACACTCCTCAGCAAATGCAAAAGAACTGAAATCATAACAGTCTCTC AGACCACAGCACAATAAAATTAGAACTCAAAACTAAGAAATTCACTCAAA ACCACACAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTCCTGG GTAAATAATGAAATTAAGGCAGAAATCAAGAAGTTCTTTGAAACTAATGA GAACAAAGAGACAATGTATGAGAATCTCTGGGATGCAGCTAAACCAGTGT TAAGAAGGAAATTTATAGCACTAAATGCCCACATCAAGAAGCTAGAAAGA TCTCAAAATTCACAACTAAAAGAACTAGAGAACCAAGAGCAAACAAATCC CAAAGCTAGCAGAAGACAAGAAATAACCAAGATCAGAGCTGAACGGAAGG AGACAGAGACACGAAAAACCCTTCAAAAAAACAAAAAATCAACAAATTCA GGAGCTTCTTTTTTGAAAAAATTAATAAAATAGATAGACCATTAGCTAGA CTAATGAAGAACAAAAGAGAGAAAATCAAACAGACACAACCAGAAATGAT AAGGGAGATATCACCACTGACTCCACAGAAATACAAACAACCATCAGAGA ATACTATAAATACCTCTATGCACATAAACTAGAAAATCTGGAAGAAATGG ATGAATTCTTGGACACATACACCCTCCGAAGAATGAACTAGGAAGGAACT GAATCCCTGAATAGACCAATAATGAGTTCAGAAATTGAGGCAGTAATAAA TAGCCTACCAACCAAAAAAAGCCCAGGACCAGAGAGATTTATAGCTG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	186	0.0054	-2296	c.244 others(19): Show c.2444-8948_2444-6653del	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	18/21			chrX	TogoVar
VAV1_chr19_6767708_6862361	6858760	TCTTGCTC others(2289): Show TCTTGCTCTGTTGCCTGGGCTAGAGTGCAGTGGTGCAATCTTGGCTTACT GCAACCTCCGCCCCCCAGGTTCAAGTGATTTTCCTGCCTTAGTCTCCCGA GTAGCTGGGACTACAGGCACGCGCCACCATGCCCAGCTAATTTTTTGTAT TTTTAGAAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTC CTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCTCACCTGGCCATTTTTTATTTAATAGTCTTTATTAA TTATTAAAATTGCAGTAAAATATACATTACATGAAATTTATTTTCTTAAG CTTTTTTTTTTTCTTTTTTTTTTGAGACGGTGTCTTGCTCTGTCACCCAG GCTGGAGTGCAGTGGTGCGGTCTCAGCTCACTGCAAGCTCTGCCTCCTGG GTTCACGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTTGCCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATGCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACCACGCCT GGCATTTTTTTTTTTTTTTTTTTTGAGATGGTGTCTTGCTCTGTCACCCA GGCTGGAGTACAGTGGCGCAATCTCGGCTCACTGAAACCTCCGCCTCCTG GGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGG CACCCGCCACCACACCCGGCTCATTTTTGTAGTTTTAGTAGAAACGGGGT TTCCCCATGTTGGCCAAGATGGTCTCGATCTTCTGACCTTGTGATCGACC AGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCGCCC AGCCCTTAGACTTTTAATGCTCATAAACTAAGATTCAGGATCTCCAAGGA AGATTTTGAAGTTCAAAAGCCAGGGAGGCTGAGGGCAGAGGATTGCTTCA GGCCAGGAGCTCGAGACCAGCCTGCACAAAATAGTAAGATCTTCCTCTCT ACAAAAAAAAAAAATAAATAAAAAAATAAAAAAAATAAAAAAATTAGCTC TGCATGGTGGCACACAACTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGGTGGAGGCTGTGGTGAACTATGATTGCA CCACTGCACTCCAGCCTAGGCAACAGAGTGAGACCTCATCTCTAAAAACC AACCAGGCCAGTCACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAG GCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCC AACATGGTGAAATCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGT GGTGGCAGGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGATAAGAGAA TCACTTGAACCTGGGAGGGGGACGTTGCAGTGAGATGAGACTGCACCGCT GCACTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCAAACAAAAACAAA AACAAAGAACAAAAAACAAAACAAAGCAAAGAAACAACCAAGTAACCAAC TGACCAACAAAAGCCAGGGAGTTGCTTTTTGGGTAAATCTGCAGGCTGCT AGCATAACCCTTAGGAGGCAAAAAGATGGGCTGGCCTAAGCTGACAGGGC TGGGGAAGGATCATGGGCTATAAATTAATTTGGGAAAAAGTAGTTCATAC TTCCAAATATATTACCCTACCATACTACTAACAGAGGCACCTCCCGTGTC AAGTATTCAGTGTTGTCTGGCGCCATGAAAGTAAGCACTTCCTACACAGT ATCTAGATTAATCTCACAGCCAGCTTCGTGGTATTTTATCTTATTTTATT ATTTATTAATTTATTTTTGAGATGGAGTCTAGCTCTGTCGCCAGGCTGCA GTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCAAGTTCAA GCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACACACGC CGCCACACCCAGCTAACAGTTGTATTTTTAGTAGAGACACAGGGGTTTCG CCATGTTGGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCTGCCCACC TCAGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCAACTGCAACCGGC CGGGTTTCTTTTTGTTGTTGTTGTTTTTTTTGTTTTTGAGACGGAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02559.hp1 others(6): Show HG01891.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0025 a0001c0001t0002g0041 others(6): Show a0001c0001t0002g0005 a0001c0001t0002g0025 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0215 a0001c0001t0002g0237 a0001c0001t0002g0278	9	306	0.0294	-2296	c.16 others(11): Show c.1654_*3949del	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding		1400		chr19	TogoVar
DEPDC1B_chr5_60591912_60705166	60653742	TATATTTA others(2287): Show TATATTTAAGTCTTTAATCCATCTTGAGTTGATTTTTGCATAAGGTGAGA GATGAGGATCCAGATTCACTCTCCTACATGTGGCTTGCCAATTATCCCAG CACCATTTGTTGAATAGGGTGTCCTTTCCCCACTTTATGTTTTTCTTTGC TTTGTTGAAGATCAGTTGGCTGTAAGTATTTCACTTTATTTCTGGGTTCT CTATTCTGTTCCATTGCTCTATGTGCCTATTTTCACAGCAATACCATGCT GTTTTGGTGACTATAGGTTTATAGCATAGCTTGAAGTCAGGCAATGTAAT ACTTCCAGATTTGTTCTTTTTGCTTAGCCTTGCTTTGGCTATGTGGGCTC TTTTTTGGTTACACATAAATTTTAGGATTGTTTTTACTAGTTCTGTGAAG AATGATGGTGGTATATTAATGGGAATTGCATTGAATTTGTAGATTGCTTT TGGTAGTACAGTCATTTTTACAATGTTAATTCTACCCATCCCTGAGCATG GAATGTGTTCCATTTGTTTGTGTCATCTATGATTTCTTTCAGCAGTGTTT TGTAGTTTTCTTTGTAGAGATCTTTCCCCTTCTTGATTAGGTATATTCCC TAAGTTTTTTGGTGTTTTTTTTTTCTTTTTTTTTGGTGGGGGGTACTATT GTAAAAGGAATTGAGTTATTGATTTGATTCTCAGCTTGGTCACTGTTGGG TTATAGCAGTGCTACTGATTTGTGTACATTAATTTTGTATCCTGAAACTT TACTGAATTCATTGATCAGTTCCAGGAGCTTTTTGGATGAGTCTTTAAGG TTTTCTATGTATACGATCATATCATCAAGAAACAGTGACAGTTTGACTTC CGCTTTACCAATTTGGATGCCTTTATTTCTTTCTCTTCTCTGCTTGCTCC AACTAGGACTTCCAGTACTATGTTGAATAGAAGTGGTGAAAGTCAGCATC CTTGTCTTTTTCCAGTTCTCAGGGGGAATGCTTTCCACTTTTCCCTGTTC AGTATAGTGTTGGCTGTGGGTATGTCATAGATGGCTTTTATTACCTTAAG GTACATCCCCTCTAGGCTGATTTTGCTGAAGATTTCAATCATAAAGTGAT GCTGGATTTTGTCAAATGCTCTTTCTGTGTCTATTGGGATGATCATGATT TTTGTTTTTAGTTCTGTTTATGTGGTATATCACATTTATTGACTTGCAGA TGTTAAACCATCCCTGCATCCCTGATATGAAACCCAATTGACCATGGTGG ATTATCTTTTTGATATGCTGTTGGATTCGGTTAGGTAGTATTTTATTGAG GATTTTTGTATCTATGTTCATCAGGGATATTGGTCTATAGTTTTATTTTT TGTTATATCCTTTCCTGGTTTGATATAAGGGCGATAATGGCTTCATAGAA TGATTTAGGGAGGATTCCCTCTTTCTCTATATTTTGAAATAGTGTCAATA GGATTGGTACCAATTCTTCCTTGAATATCTGATAGAATTCAGCTGTGAAT CCTTCTGGTCCTAGACTTTTTATTGTTGCTGGCTATTTTTTTCTTACCAT TTGAATCTCGCTGCTTGCTATTGGTCTGTTCAGAGTTTCTATTTCTTCCT GGTTTTATCTAGGAGGGTTATATATTTTCAGAAATTTATACATCTCCTCT AGGTTTTCTAGTTTGTGCACATTAAGGTGTTCCTAGTAGCCTTTAATGAT CTTTTGTATTTATATGGTATCAGTTGTAATATTTCCCATTTTGTTTCTAA TTGAGCTTATTTGGATCGTCTCTCTTTTCTTGGTTAATCTTACTAATGGT CTATTGATTTTGTTTATCTTTCCAAAGAACCAGCTTTTTGTTTCGTTTAT CATTTGTATTATTTTTTGTTTCAATTTCATTTAGCTCTGCTCTGATCTTT GTTATTTATTTTCTTCTGCTGGGTTTTGGTTTGTTCTTCTTTCTCTAGTT CCTTGAGGTGTGACCTTAGATTGCCTATTTGTGCTCTTTCAGATTTTTTT ATGTAGCCATTCAATACAATGAATTTTCCTCTTAGTACTGCTTTTGCTGT ATCCCAGAGATTTTCATAGGTTGGGTCACTACCATAGTTCAGTTCAAATA ATTTAATTTCCATCTCGATTTTGTTATTGACCCAACAATAATCCAGGAGC AGGTTATTTAATTTCCATGTCTTTGCATGGCTTTGAGGGTTCCTTTTGGA GTTGATTTCCAATTTTATTCCCCTGTGGTCTAAGAGAGTACTTGATATAA TTTCAATTTTCTTAAATTTATTGAGACTTGTTTTGTGGCCTATCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp1 others(46): Show HG00099.hp2 HG00408.hp1 HG00544.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02293.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA18954.hp1 NA18974.hp2 NA18999.hp1 NA19000.hp2 NA19057.hp2 NA19058.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 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 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063	49	292	0.1678	-2294	c.315 others(17): Show c.315-8503_315-6210del	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DLGAP2_chr8_732628_1713476	1015145	GTGTGACC others(2286): Show GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGAC GACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTG TATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGACG CCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGT GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGAC GACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGG ACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCCAC TGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACA GACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTA TGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGC GCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGA CCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCC TCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGA CAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGAGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACG CCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGAC CAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGAC AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGAC GACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	-2293	c.73+ others(19): Show c.73+107182_73+109474del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNMT3L_chr21_44241339_44266897	44264358	GATGGTCT others(2286): Show GATGGTCTCGATCTCCCGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTAGGATTACAGGCGTGAGCCACCGCACCCGGCCTGTTTTTCTTTTT CTTTTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCAGGCTGGAG TGCAATGACGTGATCTTGGATCACCGCAACCTCAGCCTCCCAAGTAGCTG TGATTACAGGCATGCACCACCATACTCGGCTTTTGTTTTGTTTTGTTTTG TTTTGTTTTTTGAGGAGTCTCCCTCTATTGCCCAGGCTGGAGTGCAGTGG TGCCATCTCTGCTCACTGCAACCTCCAGCTCCCCGGTTCAAGAGAATCCT CAGCTTCCTGAGTATCTGGGGTTACAGGCGTGCACCACCACGCATGGCTA ATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATATTGGCCAGGCTGG TCTCAAACTCCTGATCTCGTGATCTGCCCACCTTGGTCTCCCGAAGTGCT GGAATTACAGGCGTGAGCCACCGCGCCCGGGCTGCCAGGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGTATGGTCTCGAT CTCCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACTGCGCCCAGCCTATTTTTCTTTTCTTTTTTTTTTTT TTTTGAGACAGAGTCTCTCTCTGTTGCCAGGCTGGAGTGCAGTGACGTGA TCTCGGCTCACTGCCACCTCACCCTCCTGAGTAGCTGTGATTATAGGCAC GCACCACCATGCCCGGCTAATTTTTGGGGAGGGGGGTCTCGCTCTATTGC CCAGGCTGGAGTGCAGTGCTGCCACCTCGGCTCACTGCAACCTCTGCCTC CCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTAC AGGCGTGCACTACCACGCATGGCTAATTTTTGTATTTTTAGTAGAGACAA GATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCATGATCC ACCCGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCG CCCCGGCTGCCTGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTCACT ATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTTATCCTGGAAGG GCAGTTTTCTTTTTTCTTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTT TGGAGATAGAGTCTCGCTCTGTGGCCCAGGCTGGAGTACAGTAGCAATTT CAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAACTCTCTTGCCTCA GCCTCCCTAGTATCTGGGATTACAGGTGCATGCCACCACACCCAGCATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCT CGACCTCCTGACCTCAGGTAACCCGCCTGCCTCGGCCTCCCAAGGTGCTG GGATTACAGGTGTGAGCCACTGCGCCCGGCTTCCGGAAGGGCAGTTTTCT AACTTCACACCCCAGAACCTCCTGCAGTAAAGGAAGGTTCTGTCCAGGGC GGGTGCCCTGGCGTAGGCCACAGGACAGGAAGCCCCTCGCATCCATCAGA GCCCCCAGTCCCCGTGCACCCCACTGCTGCTCAGCAGAGACCAGAGCGGT CTCAGCAGGAGAGAGGCCCGGTGCTCTACAGATGGGCCCCAGAAAAGCTG GCCTCTCATGGGGAGCTCTCTGGGAGCTCAGTCCCTGAGGCCACCACTGG CATCGGCCCCTGTGATATACCCACCAGCATGCGGACCACAGGTGCTGGTC ACTGGGGGACCTCTGGCCTCACTCTCCATGCCCCAGAAAGCCCCAAGGAC GCAAACGTGGCAGGGTGGGCCTTAAAGCTCCCCAAGCAGGGCTACGGGGG CTGGTGGAGCACAGTCCCCGCTGTGTGGCTGCCCCTTCCTGGCACTCATG GATGCATCTGGAGTCTTCCTTCTGCATGAGCTCCCATGTCCTCTCCAGCC TGGAAGCCACCCGTGTGCTGGCTTGATGGGGTGACCCACAGCTCACTACA CATTGATTTCTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTATCACC CAGGCTGGAGTGCAGTGGCGCATCTCCACTCACTGCAAGCTTACGACATT CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGATAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	392	0.0051	-2293	c.-49 others(11): Show c.-4919_-2627del	DNMT3L	ENSG00000142182.9	transcript	ENST00000628202.3	protein_coding		2462		chr21	TogoVar
PDZD2_chr5_31634131_32115932	31886118	GTAACTCC others(2286): Show GTAACTCCTGACCTTAGTTGATCCGCCTGTCTTGGCCTCCCAAAGTGCTG AGGTTACAGGCGTGAGCCACTGTGCCCAGCCATTGTCTATACAGTTTGAA TAACACACTGAAAAAACAGATCAGTGCATATCTTCCACAATTAACAATGC ATTTGTTTAGAGCATGTTGCTGCATTGGGTGAACTCTCAGGCTGGCAGCG ACTCCAAGCTTTGGTTGAGTTTGCTAGTGCCAAGTTGTTTATGTGCCTCC CCTTGGCCCCTTCCTTCCCTGCCACTCCTTCTTCCTCCCAGCTTGCTGAG CTTGCTGCCCGGACTCCCTTCCTCTCTCCTCTCTCCTCTCTGCTGAGGTT CTGCCCGCTGGAGAAATTCCTCCCTTTGCCCCTCCACCCTTCTGAGAACT GTGGGTTGTCAGGAGACCAGGAAACTCCCTGATGGAAACTGCTTTTGTGA AGGATGCTGAGATGTGTGGGCCCTCAGCCACGGCCCAGGGTGGAATTGAG GTCTTATTGGAGGACCCAGTGACTGTTACAGGTAGAGCCCAGAGGCACTT CTGCATCAGGTAGATTCTGCACTTGTCTCTGTCTCTTTTTTTTTTTTTGA GACGGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGTGCGATCTCG GCTCACTGCAAACTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGCACTACAGGCGCCTGCCACCACACCCAGCTATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGGTCT TAAACTCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCTGAAGTGCTG GAATTGTAGGCGTGAGCCACCACGCCTGGTCTCTGTACTTATCTCTTGAA TGCCGCCTGGGTGCAAGAACCAGTGCCAGGCTGTGCCATGCATAGTTGGA CTGGGCTGTTCCTTCTGTGCTTGCTTCCTTAATGTTTGCTATGGGCTGGG CTCATTCTTACTGTGGATTTCTGTATGTTGACCAGTTCAATGAGTTCTGA AAATCCTACAACGTAGTGGATATTTTTAAGTACACACTTGGTAGGCTCTA GGGGAAAAGCAGATTTTACACACGCACACACAAACACACATACACACACA AAATCGATATGTAGTGTGAATGGAGAGGCAGTGACAGAGTGGGAATTGTG TTAGGAAAGTGACTCTTGCTTCAGAAATGCTTGGAGCACTTTTGGTGTCC TGGGTCACCCTCTCTGGAAGGACTTTGGGTGTCAGTGGAGAGACCACATT CGGAGCCTGAGAGTGGTGTGCACTTTCATCCACAGGCTTAATTTTGTTTC ATTTTGCTTTTTGAGATGGAGAAAGCAGTGTTGAGGATGGAGGAGAGCTA GGAGGTTGGCAGCTTTTCCAATAGGAACCATTTTTACAGCAGAGAAGTGC CATTCCTGAGATCTGCAGAGTCTGCTTCTCTCCTCTCACTGTCCTGATTA TCAATTGTCCGTTGTTCTGTTGGAACAATAGGGCTGATTTTTCTGTAGGA ATCTGACAAAATTTCGCATAGCTGTACAGAGAACTGCCAGTTAGGGGGAC AGTGTCAAGAATGACACAGGCTCAAATACTGAGGGTTGCCTGTGCATGCC CTGTGTCTCAAAACTGTCCTACGCTTTGCTTTCAGTCATCAGTTTTATGT GCGGGGGAGGGGGGGAACAGCACTTTTTCTAAAGGAAAAATAAAATGGAT TGGTCTGTGGGGGGACAGTTACACATAGCTTTGAAAGGCTGCTTAGCCGA AGAGTGGCGAGAGTCGGGGAGGGAGTGGGAGTTGTTCAGCATTGTTAACT TCCAACATACGATGGGCATTTGGGCACATCAGAGGGATACAACCCTATTT TTCGAGCCTGGGTTCCAGGGGTGCAGCTGTTTTGGGCCATTTACAGCAGT GGAATTTGGATGGCGCAGATATTGCCCATAGAAGCTTTGCCTGCCTGCCT TCCTTTCTTGTTTTGTTTCCTTTTCTTTTTCTTTTTTATTTTCTCTTCTT TCCTCTTTTCTTCTCTTCTCTTTTCTCTTTCCTTCCTTCCTTCCCTTCCT TCCCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGCTATGATCTCAGCTCA CTGCAACTTCCGCCTACTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTACAGGCGTGCCGCCATGCTTGGCTTAATTTTTGTAT TTGTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	216	0.0046	-2293	c.476 others(19): Show c.476+86395_476+88687del	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24			chr5	TogoVar
WWOX_chr16_78094654_79217667	78259447	CTGCCGAC others(2286): Show CTGCCGACTAGCTGGGACTACAGGCACACGCCACTATGCCCAGCTAATTT TTGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTG GGCTCAAGTGATCCACCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGG CATGAGCCACCATGTTCGACCCCATTTTTATAAATGTAAAATTAACTTAG GTTTAAACTATTAATACACAAGGTTGAGAAGTATAGAAGTGGGCATTCTA ATATACTGTGGATGGGAAGAACAATTGATTTTCATAGTTCTGAGATATAA TTTGGAGATCTCTATCAAAAGTTTTATAAACTTTTTTTTTACCTAGGAAT TTCATATCTAGAAAAATATTGTAAAGGAATATTTAAAGATATATCCACAA ATTTATGTACAGTGATGTTTATGCTTATATTATTTATAGACTTTTAAAAA ACTTAAAATATTTAACAATTGAGTTATTTTATGATGATCTAAACTGCATA GGATAAAATCCTATGCAGTTTACAGAAATGTAAACTAAGTGCTTCGTTAA ATGAATCCTAGATCCCGTGCCTTCTGACTGGGTGAGACCTCCCAGCAGGC GTTGCCAGAGAACTTACACAGGAGCGTTTCTGCTGGAATCAGCTCGATGC CTCTTGAGGACAGAGACTCCCAGAGGAAGGAGCAGGCAGCCATCCTTGCT GTGCTGCAGCCTCCACAGGTGACACCTCCTGGTGTGGGAGGGACCCAGGT GAACAGGGTCTGGAGTAGACCCCCAGCAAACTACAGCAGTGTTACTGGGA AGAGGGGCCTGATTGTTAAAAGAGAAACAAACAGAAAACAACAACATCAC TAACAAACAAGTTCCCACAAAGACCCCATCCAAAGGTCAGCAGCCTGAAA GATCGAAGCCAGATAAATTCACAAAAATGTAAGGCTCATTTACATTACAG GCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCAC TTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCTGTC TCCACTAAAAATACAAAAGAAATTAGCTGGGCATGGTGGCAGGTGCCTGT AATCCCACCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGT GACAAAGCTATACTCCATCTAAAAAAAAAAATTAGTTATCTCTGCCCTTT GGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAACCTAGCC TGGGCAACATGGTGAAACCCCGTCTGTACCAAACATACAAAAATTAGCTG GGTGTGGTGGCGTGCCTGTAATCCCAGCTATTGGGGAGGCTGAGGCAGGA GAATCACTCGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACC ACTGCACTCCAGCTTGGGAAACAGAGTAAGACTCCATCTCAAAAAAAAAA AAAAAAAAAAGTTATTGATTAAAATTTAAATATAAATTACAAGTAATAAT GAAAGTATGAAATTTTTATTGATTCATAAATATTTGGTTTTAATCAAATA TGATGTGAAGCTTTAAGTGAAATTATTGATATTCGAAGTTTTTTTTTGAA TGTTTAAATCATTTCACATTCACATTTTTTAAGTAAAATGAAACAACTTG ACATTTTAGCATAGAATGTTTATATGGTGGCCAAAAAAGCAGATTGGTAT CATGCTTTATGTGTGTTCATTCTAGTCCTGCACGTGTAGAAATGTAAGAT TTTAATGTGTGGTAAGGTAGATAGATAGATAGATAGATACATACATACAT ACATACATACATACATATAAAATTAGGTAAGAGGATACTTTTAATGTATG GTAAGCTATGATTGCACCACTGCATTCTAGCCTAGGCGACAGAGCAAGAC CCTGTCTCTAAAAATAAATAAATAAATAAATAAATAAATATTTTGTAAAA GGTATCATAGCTGTATAAAAAGAAAAGACTAAAAAGAAAGCCACTCAAAT TCCATTTCTCTTCTGCAGATTTTTTTTTAGTTTTGTATTTCATCTGTGAT TGACTGTGTATGTATTTTTGCATATATACCTGCAAGCATTTGTCCTTTTA ACCTTAGGAAAAAAAGTCTGATTGCAACTACGTGTTTGGGAATCAGGGAG ACTATGGAAGAACAATCTCAGATCTCAGCTTGAGGCTCCACTTGCAATAT CACAATTTCTAAAACATGTTGTATGTGGGCCCATTTGCCATGTG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0111 a0001c0007t0007g0111	1	142	0.0070	-2293	c.516 others(19): Show c.516+95161_516+97453del	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF473_chr19_50021005_50053776	50051484	CGAGTGGC others(2285): Show CGAGTGGCTGGGATTACAGGCGCCCGCCACCATGCCTGGATAATCTTTTG TATTTTTAGTAGTGTGAAAAATGGGAAAGTTATTCTTCAAAGATTATAAA AAGTCACAATTTCTTAGTATAAGATTGCTATCCACTATTATATATTCCAA ATCAGCTGTCCTAGCTTGCTCCGGCATGCCTGGACAGAACTAGACAAGCC CCAGGACATAGTGCATAGTTAAGGAAGCATCCTTAACTATCCCCTGGGCA ACTTCCTTTTCTTTGTTCTGTTCCCCTTACCCAGTTAAAAAAGTTTTAAA CTAATAGCCAATCGGGTAAAGTGTAAAATGTGAGGTCCTATTCCAGCCAA TGGAAACTGGACACAGCAGTAGGGTAGACACATCAGGTTATAATAACTCT GTCTCCTTAGTTTGGCGGGGTCTCGTGGCTGGACAGCTATTGAGTAGCAC CCTTTCTGCAGGAAGTAAAGCTCACCTTGCTGAGAGATCATTTGTTCCCG CATTAATTCTTTTTTTTTTTTTTTTTTTTTTGCGACACCAAAAACCTCGT TCCCAACAGTAGGGGTTTCACCATGCTGCCCAAGGCTGGTCGCCAACTCC TGACCTCAGGTGATCCACCTGCCTCCCCCTCAAGTGCTGGGATTATAGGC ATGAGCCACTGCTCCTGTCCCATGAGGCGGCCTTTGAAAAAGGCTTTGAG GGATGAGCAGGAGGTCGCCAGGAAGAGAAGGGAAAATATACTATATCTAT AGATCTGGCCAAAATTAAAAGTCTCAACGAGGGTGTGAGGAAACTGCCGT TCTCCTACCCTGCTGGTAGGGAGAGGAATGTCTTCAGCCTTTGAGGAAGT AAATCAGTCAGTCAGTTGGTGATGTTTGCTGAGAACCTTACTGTATACTG GGCAGACGCTAGGGATACAGCGGGGAAAGACAGAGGGCAGGCAGTAACCA TGAGACATGATTGGAAATTATAAGTGCTGTGAAGTAGGCTGGGTGTGGTG GCTCACACCTGCAATCCCAGCACTTTGGGAGGCCAAGGCGAGTGGATCAC TTAAGGCCAGGAGTTCGAGACCAGCCTGGGAAACATGGTGAAACCCCGTC TCTACTAAAAAGACAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAATC CCAGTTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCTGGAAGGCA GAGGTTGTAGTGAGCCGAGATCACACCACCGCACTCCAGCCTGGGCCACA GAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGTGCTGTGAAGT AAACAGGCAGGGGCTGAGATGGGAATGAAGGAGGGACTGTGGGATCAAGA AACATAATTCTTTGAGAACATAATGTGAAATAATATAAATAATATCAACC TCAAGAGAAATGTAGAGGAATACTATGAATTGCAGCTGGAATCTGCCCTA AATGTACATTTCTTCTTCCTGGTGTTTGTGACAATTTGAGTTGGGGTTTT CTTTTAGTCACAGCTGAAGGCATCCTGATGTGCTAGCATAAACAAGATGA GTGTCTTGCTTTTGATGCTTTTAGCTACTCAAGCCAGTAAATTATCATTC TTGTTTGAACTGTGTGAGAGGTGGTCAAGTTCAACATTTGAAGGGAGAGT TGAGAGATACTGAGTGGGAGAGAGGGATAGGAAAAACATGCCTTCTTTCT GTTTAGGTTTCTAAGGTGATAGGAGATAAGCCTGGAGCTGCTCGTGGTCA CCTTGCCACCATGGGGGGAGAACCTGCCAGAAAATGAAACTAACCAAAAA GGAAGCTGAGCTAAGAGGAGTGACCAGATTACTGACATGTCTCTTAAACA CCTGGATCCATCTGTTCCTGAAGGCAAAACTGTTCAATTACATAGGCTAA TAAATTCCCTTTCTTCCTTAAACAAACAGAATACTCTTGGCTGGAAATGA ATCTCTATCTTATACCAGAAATTATTTAAAAATCCAGATGGATCAACAGC CGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGC AGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGA AACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGG CACCTGTAGTCCCAGCTACTTGGGGGGCTGAGGCAGGAGAATGGCGTGAA CCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAG CCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01109.hp2 others(20): Show HG00733.hp2 HG00735.hp2 HG01109.hp2 HG01884.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0024 a0002c0002t0002g0063 a0002c0002t0002g0064 others(18): Show a0002c0002t0002g0024 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0007g0278	23	416	0.0553	-2292	c.44 others(11): Show c.4426_*6717del	ZNF473	ENSG00000142528.16	transcript	ENST00000270617.8	protein_coding		2709		chr19	TogoVar
DHDH_chr19_48928699_48949969	48935479	CCACTGCA others(2284): Show CCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTGGTCTTAGAAATAA ATAAATAGGCCGGGCGCGGTGGCTGACGCCTGTAATCCTAGCACTTTGGG AGGCCAAGGCGGGCAGATCATGAGGTCCGGAGATGGAGACCATCCTGGCT AATACGGTGAAACCGCATCTCCACTAAAAATACAAAAAATTAGCCGGGCA TGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGCGAAGAGTGAGACTCCGCCTCCAAAAAAAAAATT AATTAATTAATTAAAAATTTTAAAAAAGAGAGCGAGAATGGCGAGAGGTA ACAGCCCCTTCCTAAGGACAGCTCCCTAAGGGAGACAGGGGTGTGACCGA CCACCTGGTCCCTGGGTGCTAGGGCGGGGCCTCGAAGTTGTGGGCGGAGC TCGGCTGTCTGGGTGGGCGGGGCTGCTGACCTCTTGACCTACTCCCACCC TAGAGGTGGCCTACATTGGCACCCAGCACCCCCAGCACAAGGCGGCGGTG ATGCTGTGCTTGGCGGCGGGCAAGGCCGTTCTGTGCGAGAAGCCCACGGG CGTGAACGCGGCGGAAGTTCGCGAGATGGTCGCGGAGGCCCGATCCCGAG CCCTCTTCCTTATGGAGGTGAGGGCAGAGGAGCCCTTCCAATATCCAGCG TAAAAGTGCTTGCCATTAAATATGGTTGCCAGTGCGCGGACGGGGTCAGT GCATTTGCCAGGATGTATCTGAATCTCCTTGGCAGCATCTATTACCGTGA AAGCCATTGCTTTTGGCCCTTAGCAAACACGGCAAGGCTTACTGAAATTG CTTGGATCTTTTGTCAGTCTTTAAGAAAAAGATGCCGGCCGGGCGCGGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAGCAC GGGGTCAGGAGATCGAGACCGTCCTGGCTAACATGGTGAAACCCCATCTC TTCTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTCAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACA CAGTGAGACTCCGTCTCAAACAAGAAAAAAAACAAACAAAAAAAAAAACA AGAAAAAGATGCCAAGAGTGAAAGTGGCATAGAATGGCAATGGCTTAGTT TGGGTGGGGTTCCAGGTAGAGGTTGAAAGGACCAAGGAACCCCCTACAAA CCTGCAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAG GTTAAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT TCACCATGTTGGCCAGGCTGGTCTCAAACTCATGACTGCAAGTGATCCTC CTGCCGCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCCCTACCTCAAGGTCTTTCATGTAATCCTATCCGCCAGGACCCCTT AGCCTTGTAAAGTCACACATTCACAGACTCCGGGGATCATCAGGTCGTGG ATATCTTTGGGGGCACCAGTAGCCTACTGCCACAACACCCAGGCTCAGAG CCTGCGCAGAGCCTGCCCCCGGCTCCCCAGTGCCCTCAGGCCTGTGTTCA CGCTCCTCTCGACTGCTCCGAGCCCGGGCGGACCTCGGCCACATCCGTCC TGCCCCGCCCTTCCCCCGTGAGCCCTGACACTCTTGCGTCAGCATTTTTA GAAATTGCTGGTGTGGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGAC CAGCCTGGCCAACATGGCGAAACTCCGTCTCTACTAAAAAAGTACAAAAA TTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTCGAGAGGCA GAGGCGGGCGGATCACGACGTCAGGAGATCGAGACCATCCTGTCTAACAC AGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTAAGATCCCGA	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03704.hp1 HG03704.hp1	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0201 a0019c0030t0001g0201	1	436	0.0023	-2291	c.202 others(16): Show c.202+387_366+1593del	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAL3ST2_chr2_241771822_241809287	241805361	ACCTTCCC others(2282): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	314	0.0032	-2289	c.11 others(11): Show c.1196_*3484del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1075		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805361	ACCTTCCC others(2282): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	-2289	c.-39 others(11): Show c.-3916_-1628del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3831		chr2	TogoVar
WWOX_chr16_78094654_79217667	78259447	CTGCCGAC others(2282): Show CTGCCGACTAGCTGGGACTACAGGCACACGCCACTATGCCCAGCTAATTT TTGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTTTTGAACTCCTG GGCTCAAGTGATCCACCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGG CATGAGCCACCATGTTCGACCCCATTTTTATAAATGTAAAATTAACTTAG GTTTAAACTATTAATACACAAGGTTGAGAAGTATAGAAGTGGGCATTCTA ATATACTGTGGATGGGAAGAACAATTGATTTTCATAGTTCTGAGATATAA TTTGGAGATCTCTATCAAAAGTTTTATAAACTTTTTTTTTACCTAGGAAT TTCATATCTAGAAAAATATTGTAAAGGAATATTTAAAGATATATCCACAA ATTTATGTACAGTGATGTTTATGCTTATATTATTTATAGACTTTTAAAAA ACTTAAAATATTTAACAATTGAGTTATTTTATGATGATCTAAACTGCATA GGATAAAATCCTATGCAGTTTACAGAAATGTAAACTAAGTGCTTCGTTAA ATGAATCCTAGATCCCGTGCCTTCTGACTGGGTGAGACCTCCCAGCAGGC GTTGCCAGAGAACTTACACAGGAGCGTTTCTGCTGGAATCAGCTCGATGC CTCTTGAGGACAGAGACTCCCAGAGGAAGGAGCAGGCAGCCATCCTTGCT GTGCTGCAGCCTCCACAGGTGACACCTCCTGGTGTGGGAGGGACCCAGGT GAACAGGGTCTGGAGTAGACCCCCAGCAAACTACAGCAGTGTTACTGGGA AGAGGGGCCTGATTGTTAAAAGAGAAACAAACAGAAAACAACAACATCAC TAACAAACAAGTTCCCACAAAGACCCCATCCAAAGGTCAGCAGCCTGAAA GATCGAAGCCAGATAAATTCACAAAAATGTAAGGCTCATTTACATTACAG GCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCAC TTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCCTGTC TCCACTAAAAATACAAAAGAAATTAGCTGGGCATGGTGGCAGGTGCCTGT AATCCCACCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGT GACAAAGCTATACTCCATCTAAAAAAAAAAATTAGTTATCTCTGCCCTTT GGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAACCTAGCC TGGGCAACATGGTGAAACCCCGTCTGTACCAAACATACAAAAATTAGCTG GGTGTGGTGGCGTGCCTGTAATCCCAGCTATTGGGGAGGCTGAGGCAGGA GAATCACTCGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACC ACTGCACTCCAGCTTGGGAAACAGAGTAAGACTCCATCTCAAAAAAAAAA AAAAAAAAAAGTTATTGATTAAAATTTAAATATAAATTACAAGTAATAAT GAAAGTATGAAATTTTTATTGATTCATAAATATTTGGTTTTAATCAAATA TGATGTGAAGCTTTAAGTGAAATTATTGATATTCGAAGTTTTTTTTTGAA TGTTTAAATCATTTCACATTCACATTTTTTAAGTAAAATGAAACAACTTG ACATTTTAGCATAGAATGTTTATATGGTGGCCAAAAAAGCAGATTGGTAT CATGCTTTATGTGTGTTCATTCTAGTCCTGCACGTGTAGAAATGTAAGAT TTTAATGTGTGGTAAGGTAGATAGATAGATAGATAGATACATACATACAT ACATACATACATACATATAAAATTAGGTAAGAGGATACTTTTAATGTATG GTAAGCTATGATTGCACCACTGCATTCTAGCCTAGGCGACAGAGCAAGAC CCTGTCTCTAAAAATAAATAAATAAATAAATAAATAAATATTTTGTAAAA GGTATCATAGCTGTATAAAAAGAAAAGACTAAAAAGAAAGCCACTCAAAT TCCATTTCTCTTCTGCAGATTTTTTTTTAGTTTTGTATTTCATCTGTGAT TGACTGTGTATGTATTTTTGCATATATACCTGCAAGCATTTGTCCTTTTA ACCTTAGGAAAAAAAGTCTGATTGCAACTACGTGTTTGGGAATCAGGGAG ACTATGGAAGAACAATCTCAGATCTCAGCTTGAGGCTCCACTTGCAATAT CACAATTTCTAAAACATGTTGTATGTGGGCCCATTTGCCA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0066 a0002c0002t0006g0066	1	142	0.0070	-2289	c.516 others(19): Show c.516+95161_516+97449del	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
ARK2N_chr18_46169034_46271992	46193346	ATGGCATG others(2280): Show ATGGCATGATCTCGGCTCACGGCAACCTCCACCTCCAGGGTTCAAGTGAT TCACCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGTCAGCA TGCTCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGG TCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCACCCACCTCGGCCT CCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGCGCCCAGCCGGGTTTT TTTTTTTTTTTTTTTTTTTTAATGACAGAGTCTTGCTCTGTCACCCAGGC TGCAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTGCACTTCCTGGGT TCAAGCTATTCTTGTGTCTCAGTCTCCTGAGTAGCTGGGATTACAAGTGC ATGCCAACACGCCTGGCTGATTTTTGTATTTTTTGTAGAGATGGGGTTTC GCCATGTTGGCCAGACTGGTCTTGAACTCCTGGCCTCAAGTGATCTGCCC ACCTTGGCCTCCCAAAGTGCTGGGATTACATGCGTGAGCCACGGTGCGGG TCCCCTAACCTTATATTGTAGTGGATATTTACACACCTTTAAATTAGCTC AAATGAAACTTTGAAATCTCTTCTTGGGTTTTAAGTTCAGTGCCCCTAAC TTTTCTTGTTTGTTTCTTTCTTTTTTAAGAGACAGTGTTGCTCAGTTGCC CAGGCCAGAGTGCAAAGGCTCACTGCCACATCCAACTCCTGGGCTCAAGC AGTCCTTCTACATGCCTGGCTAATTTTTAAATTTTTTGTATAGATGGGGT CTGGCTATGTTTCCCAGGCTGGTCTCAAACTCCTTGACTTAAGCAGTTCT CCTGCGTTGGCCTCCCAAGGCTCTGGGATTACAGGTGTCCACCACCATGC CTGGCCCTCTGGTTTCTTTTGATTTTTCCCATGTCTTTCCTGTTATGGAG GGGAGGTTTAAGATTCTTTAATAGGCCAGGTGCGGGGGCTCACGCCTGTA ATCCCAGCACCTTGGGAGGCCGAGGCGGATGGATCACGAGTTCAGGAGTT CAAGACCAGCCTGGCCAACATGGTGGAACCCCATCTCTACTAAAAGGAGC TATTACAGAATCTTTTTTTTGTTTTTTTTTTTGTTTGTTTTTTTTGAGAC GGAGTCTCGCTGTGTCACGCAGGCTGGAGTGCAATGGCATGGTCTCGGCT CACTGCAGCCTCCGCCTCCTGGGTTCAAGTGATTTCTCCTGCCTCAGTCT CCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCTGGCTAATTTTT TTTTATTTTTAGTAGAGACGGGGTTCCACCATGTTGACCAGGCTGGTCTT GTACTCCTGACCTCGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACCGCGACCGGATTCTTGTTTTTATTTAAATTTAA ATTTAATTAATTTTTTTTTTTTTTTTGAGATAGAGTCTCATTCTGTGGTC CAGGCTGGAGTACAGTGGTGTGATCTTGACTCACTGCAACCTCCACCTCC TGTGTTCAAGCGATTCTGCCTCAGCCACCAGAGTACCTGGGACTACAGGT GTGTGCTACCACGCCTGGCTAATTTTTTGTAGTTTTAGTAGTGACGGGGT TTCGCCATGTTGACTAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATTCA GCTGCCTTGGCCTCCCAAAGTACTGTATTTACAGGCATGAGCCACCATGC CTGGCCTCAAATATATTTTCAAAGACTTTAAAATATACACAGAGATGTGT AATAATGATTCCCTGTGTACCTACTTATTACACAGTTTCAATAATTATCC ACATTTTGCCATTTGTTTTTGGTTATGCTTTCTGCTTTCATTAATTTTTT CCTAAATTCTTTTATTTAACCTTTTTTTTTTTTTTTTTTTTGAGATAGAA CCTCACTCAGTTGCCCAGGCTGGAGTGCAGTGTTTCGATCATAGCTTACT ACAGCCTGGAATTTCTGGGAGCAAGCAATCCTGCCTCAGTCTCCCAGGTA GCAAGGACCACAGATGTGCACTGTCATTCCCATTGTAGAGATGGGGCCTC ATGATGTTACCCAGGCTGGTCTCAAACTCCTGGGCTTAAGCAGTCCTCCT GCCTTGGCCTCCCAAAGTGCTGGAATTACAGCTTGAGCCACCACGCCTTG CATCCCACATAAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGGGGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp1 HG03540.hp2 HG01243.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0072 a0001c0001t0007g0073 a0001c0001t0007g0074	3	320	0.0094	-2287	c.-71 others(19): Show c.-71+19022_-70-20173del	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANGPTL6_chr19_10087338_10107678	10101606	AAGACCAG others(2278): Show AAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAA AAATTAGCTGGGCATGGTAATGCATGCCTGTAATCCCAGCTACTACTCAG GAGGCTGAGGTGGGAGAGTCACTTGAACTCAGGAGGCCGATGTTGCAGTG AGCAGAGATTGCGCCATTGCACTCCAACCTGGGCGACAGAGCAAGGCTCA AAAAAAAAAAAAAAAAAAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCC CAGCACTTGGGAGGCCAAGGCAGGTGGATCACGGGGTCAGGAGATCGAGA CCATCCTGGCTAACACAGTGAAATTCCGTCTCTACTAAAAATACAAAAAA AAAAAAAAAAATTAGCCGGGCATGGTGGCGAGCGCCTGTAGCCCCAGCCA CTCCAGAGACTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTG CAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAG ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAATGGCAGAAATGTC TATGAGGCCGGAAGAGAGAAGGGGGAAGCAGGAGGAGGTAAGAAGTGTCA GGGCAAAGTGTGAAGGGTCCTGTGGGCCCGGAGGAGGACTTGGGTTTTAC TCTGAGTCAGGCAGGAGCCATGGAGGGTTCTGGGCTGGAGATGGCCACAT TTACTTCTGGACTCAGACACCAAGCAGGGGCTCACAAGGATCCGGGGGTA GGGTCCTCTCTTTGTCCCCGATCACTGACATGCCCCACCCCCCACAACAG AGATTGAGCAACCCCCCAGAACTGGGACGTGTGTATAACACCCGCTGCCT TTTACACTCTCAGCCTGGGGTGGCGGGGTGGCCTGGGGGCCCCCAAGCCA AGCTGTGGTCGGAGTTTCCCCACAGTGAGAATCAACCTCCACCTACCTTC CCACCCTCTCACCTCTGATGCCCAAGACCCTGAATCCAGCGAAGCTCACA GAACACACAAGAAGTCCAAGGAAGAGCCGAGGGTCCAGTGGGGCCTCTGA GCTAGAGACGGGGAGAGGGCAGTGGGACAGAAGGAGAGAGGAGGCTTGGT AACCACTCCCCAGCCCCCAGAGCCTGGGAGTGGAGCTGGGATGCTGGGCC CAGGAGCCCAAACTATAAATATTTAGCATTTCCCGAATGAGAAATGAGAC AGAATTGCCAGACCCCCCTGCCCAGGCCACCAGAGCCTGATAACACAGGT CAGTGTCCTGGACATCCCTCCCTTTCCCCCACACCCTCCACTGCAGAGCC CAGAGCGTGGGAGGCTGCAGGCCCTGGGGCAGCCAGGCGTGATCCCAGCC CCAGACACGCACACACCACACATAGAAAGAGGAACATCACTGGGGACTTA CCGTGTGTAGGGCTTGGCTCTAAACTCTCCACACCTTTTACGTATTTGAT CCTTACAACCTGAGCTGGATTCTGTATGTACCCTCATTTTACAGCAGGGA AAACTGAGGCTCAGAGAGGGTAAGCAACTTGCCTGCGGTCACACAGCCAA AAAGAGACCAGGATGGGAGCCAGCCAAGGTAGCTTGACTCAGAAACTCAC ACATGTACACCACAGCTGTCACACACATATGGGCACATAACAGAGTGGAC ACAAACACACACACACACATTTGCACGCACGCACACATTAACACCCAGCG AAAGTCTGGGTGCAGTGGCTCATGCCTGAAAGCCAGCACTTTGGGAGGCC GGGGCAGGTGGATTACCTGAGGTCAGGAGTTCGAAACCATCCTTGCCAAC ATGCTAAAACCCCGTCTCTACTAACAATACAAAAATTAGCTGGGCATGGT GGCATGCGCCAGTAATCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATTG CTTGAAGCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGAGCAACCGCA TGCACTCCAGCCTGGGCGACAAGACTGAAATTCCATCTCAAAAATAAATA AATAAATAAATAAATAAATAATAAATAAATAATAATAAAGTGAGGAATTA ATTAATTAAAATAAAAAATAAATATAAAAGACACAGCTGTAAATTTTTAA ATTGTGATAGAAACAATATATTCTTAAAGTGAAAACCCTACCTCAGTTAC ATGTGATTTATGTTTTTTGGATTAATCTGGATTTTATAATTAGAAATAAA AATGTAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGTGGGCAGATCACGAGGTCAGCAATTCG	A A	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00099.hp2 HG02738.hp2 HG00099.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0187 a0001c0001t0004g0188	2	462	0.0043	-2285	c.-13 others(13): Show c.-1334_-11+961del	ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding	1/6			chr19	TogoVar
PPAN_chr19_10101362_10117012	10101606	AAGACCAG others(2278): Show AAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAA AAATTAGCTGGGCATGGTAATGCATGCCTGTAATCCCAGCTACTACTCAG GAGGCTGAGGTGGGAGAGTCACTTGAACTCAGGAGGCCGATGTTGCAGTG AGCAGAGATTGCGCCATTGCACTCCAACCTGGGCGACAGAGCAAGGCTCA AAAAAAAAAAAAAAAAAAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCC CAGCACTTGGGAGGCCAAGGCAGGTGGATCACGGGGTCAGGAGATCGAGA CCATCCTGGCTAACACAGTGAAATTCCGTCTCTACTAAAAATACAAAAAA AAAAAAAAAAATTAGCCGGGCATGGTGGCGAGCGCCTGTAGCCCCAGCCA CTCCAGAGACTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTG CAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAG ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAATGGCAGAAATGTC TATGAGGCCGGAAGAGAGAAGGGGGAAGCAGGAGGAGGTAAGAAGTGTCA GGGCAAAGTGTGAAGGGTCCTGTGGGCCCGGAGGAGGACTTGGGTTTTAC TCTGAGTCAGGCAGGAGCCATGGAGGGTTCTGGGCTGGAGATGGCCACAT TTACTTCTGGACTCAGACACCAAGCAGGGGCTCACAAGGATCCGGGGGTA GGGTCCTCTCTTTGTCCCCGATCACTGACATGCCCCACCCCCCACAACAG AGATTGAGCAACCCCCCAGAACTGGGACGTGTGTATAACACCCGCTGCCT TTTACACTCTCAGCCTGGGGTGGCGGGGTGGCCTGGGGGCCCCCAAGCCA AGCTGTGGTCGGAGTTTCCCCACAGTGAGAATCAACCTCCACCTACCTTC CCACCCTCTCACCTCTGATGCCCAAGACCCTGAATCCAGCGAAGCTCACA GAACACACAAGAAGTCCAAGGAAGAGCCGAGGGTCCAGTGGGGCCTCTGA GCTAGAGACGGGGAGAGGGCAGTGGGACAGAAGGAGAGAGGAGGCTTGGT AACCACTCCCCAGCCCCCAGAGCCTGGGAGTGGAGCTGGGATGCTGGGCC CAGGAGCCCAAACTATAAATATTTAGCATTTCCCGAATGAGAAATGAGAC AGAATTGCCAGACCCCCCTGCCCAGGCCACCAGAGCCTGATAACACAGGT CAGTGTCCTGGACATCCCTCCCTTTCCCCCACACCCTCCACTGCAGAGCC CAGAGCGTGGGAGGCTGCAGGCCCTGGGGCAGCCAGGCGTGATCCCAGCC CCAGACACGCACACACCACACATAGAAAGAGGAACATCACTGGGGACTTA CCGTGTGTAGGGCTTGGCTCTAAACTCTCCACACCTTTTACGTATTTGAT CCTTACAACCTGAGCTGGATTCTGTATGTACCCTCATTTTACAGCAGGGA AAACTGAGGCTCAGAGAGGGTAAGCAACTTGCCTGCGGTCACACAGCCAA AAAGAGACCAGGATGGGAGCCAGCCAAGGTAGCTTGACTCAGAAACTCAC ACATGTACACCACAGCTGTCACACACATATGGGCACATAACAGAGTGGAC ACAAACACACACACACACATTTGCACGCACGCACACATTAACACCCAGCG AAAGTCTGGGTGCAGTGGCTCATGCCTGAAAGCCAGCACTTTGGGAGGCC GGGGCAGGTGGATTACCTGAGGTCAGGAGTTCGAAACCATCCTTGCCAAC ATGCTAAAACCCCGTCTCTACTAACAATACAAAAATTAGCTGGGCATGGT GGCATGCGCCAGTAATCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATTG CTTGAAGCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGAGCAACCGCA TGCACTCCAGCCTGGGCGACAAGACTGAAATTCCATCTCAAAAATAAATA AATAAATAAATAAATAAATAATAAATAAATAATAATAAAGTGAGGAATTA ATTAATTAAAATAAAAAATAAATATAAAAGACACAGCTGTAAATTTTTAA ATTGTGATAGAAACAATATATTCTTAAAGTGAAAACCCTACCTCAGTTAC ATGTGATTTATGTTTTTTGGATTAATCTGGATTTTATAATTAGAAATAAA AATGTAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGTGGGCAGATCACGAGGTCAGCAATTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02738.hp2 HG00099.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	442	0.0045	-2285	c.-47 others(11): Show c.-4788_-2504del	PPAN	ENSG00000130810.20	transcript	ENST00000253107.12	protein_coding		4755		chr19	TogoVar
PNLIPRP3_chr10_116422847_116482957	116480674	CTGTCAGG others(2276): Show CTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCCCTGTGACCTGC ACGTACACATCCAGATGGCTGGTTCCTGCCTTAACTGATGACATTCCACC ACAAAAGAAGTGAAAATGCCCTGTTCCTGCTTTAACTGATGACATTGTCT TGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAGTTCCCCTACTGA GAACCCTGTGACCCCCACTCTACCCGCTAGAGAACAACCCCCCTTTGACT GTAATTTTCTTTCACCTACCCAAATCCTATAAAACGGTCCCACCCCTATC TCCCCTCACTGACTCTCTTTTCGGACTCAGCCCACCTGCACCCAGGTGAT TAAAAGCTTTATTGCTCACACAAAGCCTGTTTGATGGTCTCTTTACACGG ACACGCATGAAATTTGGTGCCGTGACTCGGATCGGGGGACCTCCCTTAGG AGATCAATCCCCTGTCCTCCTGCTGTTTGCTCCGTAGAAAGATCCACCTA CGACCTCAGGTCCTCAGACCCACCAGCCCAAGAAACATCTCACCAATTTC AAATCCGGTAAGCGGCCTCTTTTTACTCTCTTCTCCAACCTCCCTCATTA TCCCTCAACCTCTTTCTCCTTTCAATCTTGGCGCCATACTTCAATCTCTC CCTTCTCTTAATTTCGATTCCTTTCATTTTCTGGTAGAGACAAAGGAGAC ACGTTTTATCCATGGACCCAAAACTCCGGCGCCGGTCACAGACTAGGGAA GGCAGCCTTCCCTTGGTGTTTAATCATTGCAGGGACGCCTCTCTGATTAT TCACCCAGGTTTCAGAGGTGTCAGACCACGCAGGGACGCCTGCCTTGGTC CTTCACCCTTAGCGGCAAGTCCCGCTTTTCTGGGGAAGGGGCAAGTACCC CAACCCCTTATCTCCATGTCTCTACCTCTTCTTCGCCTTTCTGGGGGGCA AGAAACCCCCAACCCCTTCTCCTTCACCCTTAGCGGCAAGTCCCACTTTT CTAGGGGAGGGGCACGTACCCCAACCCCTTATATCTCTGCATGCTGATCC CTTATTTCCGTGCCCCAACCCCTTATATCTCTGTGCCCCGATCCCTTATT TCTGTGCCCCAACCTTGTATCTCTATGCCCCGACCCCTTTCCCGCTTTTC TGGAGGGTAAGAACCCCCGAACCCCTTCCCTCCATGTCTCTACTCTCTCT TTTCTCTGGGCTTCCTTCCTTCACTATGGGCCACCTTCTACCCTCCATTC CTCCTTCTTCTCCCTTAGCCTGTGTTCTTAAGAACTTAAAACCTCTTCAA CTCTCACCTGACCTAAAATCTAAGCAACTTATTTTCTTCTGCAATGCCAC TTGATCCCAATGCAAACTCGACAGTAGTTCCAAATAGCCAGAATATGGCA CTTTCAATTTTTCCATCCTACAAGATCTAAATAATTCTTGTCATAAAATG GGCAAATGGTCTGAGGTGCCTGACGTCCAGGCATTCTTTTACACATCAGT CCCTCTCTAGTCTCTGTTCCCAATGCAACTCATCCCAAATCTTCCTTCTT TCCCTCCCACCTGTCCCCTCAGTCCCAACCCCAAGCATCGCTGAGTCTTT CTAATCTTCCTTTTCTACAGACCCATCTGACCTCTCCCCTCCTCCCCAGG CTGCTCCTCGCCAGGCCAAGGTAGGTCCCAATTCTTCTTCAGCCTCCGCT CCTCCACCCTATAATCCTTTATCACCTCCCCTCCTCACACCGGGTCCGGC TTACAGTTTTGTTCTGCGACTAGCCCTCCCCCACCTGCCCAGCAATTTAC TCTTAAAAAGGTGGCTGAAGCTAAAGGCATAGTCAAGGTTAATGCTCCTT TTTCTTTATCAGACCTCTCCCAAATCAGTGAGCGTTTAGGCTCTTTCATC CAATATGAAAAACCCAGCCCAGTTCATGACTCGTTTGGCAGCAACCCTGA AACACTTTACAGCCCTAGACCCTAAAAGGTCAAAAGGCCGTCTTATTCTC AATATACATTTTATTACCCAATCTGCTCCCAACATTAAATAAAACTCCAA AAATTAAATTCCGGCCCTCAAACCCCAAAACAGGATTTAATTAACCTTGC CTTCAAGGTGTACAATAATAGAAAAAAGTTGCAATTCCTTGCCTCCACTG TGAGACAAACCCCAGCCACATCTCCAGTACACAAGAACTTCCAAACACCT GAACCGCAGTGGCCAGGCATTCCTCCAGAACCTCCTCCCCCAGGAGCTTG CTGCAAGTGCCAGAAATCTGGTCACCAGACCAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0242 a0002c0006t0006g0242	1	288	0.0035	-2283	c.35 others(11): Show c.3522_*5804del	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding		2718		chr10	TogoVar
NALCN_chr13_101048776_101421508	101241792	CCATCCTT others(2274): Show CCATCCTTTCCCTCTGAGGGATGGGATTTTTCCTTCCTGATGTTATGTGG GGCCTCTCTTCTGCCTCTTCACTTTGCACAGGCCTCTAGTCACTTCCATC CTGGACACACTCCTGAAAACTGCAAGTTCTGGTCACAAGGATTTGCAAAT GTCCTCAGGGCAGCCACTGCCTTGGGGCCCACCTGGTATTCTGGACTCAC GTCACATTTAATTTTTGGCCTCAAGAATTTTCCTTAATTTTTTGCACACT CTGCTGAACATTTAAAACGTCTTAATATTTTAAGTGTTTGGTAGAAATGA TTTTTAGTTACCTTGCAGGGCCACTTTGTATGTGCTTCCTATAAGCAGTG TACAATTTTTATTTTGTGTTTAAACATACTCAGATTTTCTAGGGTTTTTG ATAAGAAAATTCAACCTGCTCAAACAAAATGTGCCAAAGTTATACTTGGT CTTACGCTTCCTGTGTATTTTATGTCATTGCTGTTTCATTTTTAACCTTA TCTTGTCTTTTTTTAACTTGGTCAACTATTTGCTAATTTCTTTCCCTATT CATTAATTTGGACGCTCGACTTGGTTTTTCTAATCTCCTGGCTTAATTCT CAATGGTTAGACATCAAACCAATGCTTTTTTCTTATTGCTTCACAACTAA ATTGCTGGCTCACTCATCCCTCCACCCCACACATCTGCAAACTTCATAGT ACACTTCTACCATCCCACTCTCCTTTGATATCACACCCTTTCCTAAGTCC TGGTTTTGCTGAAATCATTTACAAATTTATTACTAGTTTCTTTAATGTTA TCATTTCTCTTTTTTCAAAGATCCCTATTTGACATATTTATTATTATCTA TTGAGATCCAATGCCCATCAATTCTCTCTTCTTTTGTCTAGTCATTGAGA TTGCAATTTACTTATCTTGTGATTAGCACACTTTAAAGTAGTTTTCTCAA ATAAATACAAAGGGTTTTATGCTCTCTTAGTCCTTTTGTATATAAAATGC ATTTTTAACACTGACAGATGAACATGTTGTCTGTGTTCAGATTCTGTAGT TGCAGTTCTATTCTCTCAGTAGTCTATGTATATTGATTCATTACCTTCCA CTTTCCAGTATTGTAGATGAGTCATCCATTGCACAATACATTTATTTTAC TTTTTCAGGTTTAGGTTCAGCCTGTTTAGGGGCTGAACAAGGTTACTTCT TTATGCTTGCAACCTAGGAAGGTCACCAGGACATGAGTAAGCATCTATTT TCATTTAATCTCACTAAAATTTAGTGAGCTCTTTCAGTTTGCAGATTTAT GTTTTTTTTTTTTTTTCATTTATGTAAGCTTTCTTCCGTTGTTTATGACA ACTTTTCTTCTATCTGTTCGCTTTTTCCTTCAGGGACTCCTATTATTCAT AGCTGTGTGGATAGGCTATTTTACTTTGCCCTTATTATTATATCTCTACC ACTTTTTGAGTTATTTTTTCCTGCTTCATCTCCCATATTAAAAACTAGCT CTCAAGGACTATGCCCTTTTTTAACTCATTTTTTGGACATTTTTAGTTGA AGTTACAGAAATTGTATTTTGTGCCCTGCTTACTTTTTCTTGAGACAACA ACAACAACAACAACAACGGATTCTCTCGCCCATCAATTCTACTTGCTTGG GAAATCTCTAGACTAGACATTTGTCTTGATTCTCTGAGTTTCATCCTCAG TTTCTGAGTCTCCCTTTGTGTGTGAGTTAACTTTTCTTTCCTTCACCATG GATACATGTTTTTGATGTAATTGTCGTTTGTCTTTTATGCTATCTTAAGC AGTGGCAAATGAGGGGTAGTAGAGGGCACCATAGTTTACGGAGGCGAAAG ACCTGAAAAGCCATAGCTCCTTTGCTGAACATCTGAAGAAGGCTTTTTGG TGACAGGATTTCCCAGAAATGAGTGGAGTCATTTATTGACCCCCTTCTCC ACCTGGAGTAATTCAGTCTCTAGTGAGCTTCCCTTCCTGGCCCACTGAGA CCCACAGGACTCTGTGGACTGCTCCTGGACCACAAGCAGCATACAGGCAG GTCCAGCTCCTCTGCGGGAAATGAAAGGCTCTCTGCCCTGAGCAGTGGCC TCAGGGGACCAGAGGACTCAGACTTTGCTGCAAGTCCTGCGACAGGTACT TCCTCTCTAGCACAGGCTTCTTAGTTCTGGCCTTGCAATGATATGGGGAA GACTTGAACCTGTTTTCTCTCCTATGGATACTAGGGAATCTCAGGAGAAA CTGAAATTGATGTGTCATGAAGGTCCCATCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(73): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03688.hp1 HG04184.hp1 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18959.hp1 NA18964.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19082.hp1 NA19240.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0023 a0001c0024 a0001c0025 a0001c0027 a0002c0030 a0004c0026 a0005c0016 a0006c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0002t0002 a0001c0002t0019 a0001c0003t0001 a0001c0004t0007 a0001c0005t0002 a0001c0005t0011 a0001c0006t0003 a0001c0006t0004 a0001c0006t0005 a0001c0006t0008 a0001c0006t0013 a0001c0007t0002 a0001c0008t0001 a0001c0008t0016 a0001c0009t0004 a0001c0010t0007 a0001c0014t0001 a0001c0023t0004 a0001c0024t0012 a0001c0025t0004 a0001c0027t0009 a0002c0030t0001 a0004c0026t0001 a0005c0016t0001 a0006c0028t0002	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0040 others(73): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0145 a0001c0001t0001g0175 a0001c0001t0003g0005 a0001c0001t0003g0020 a0001c0001t0003g0042 a0001c0001t0003g0085 a0001c0001t0003g0164 a0001c0001t0003g0168 a0001c0001t0004g0008 a0001c0001t0007g0170 a0001c0001t0008g0012 a0001c0001t0008g0017 a0001c0001t0010g0019 a0001c0001t0015g0125 a0001c0001t0018g0009 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0048 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0086 a0001c0002t0002g0123 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0152 a0001c0002t0002g0173 a0001c0002t0019g0135 a0001c0003t0001g0033 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0051 a0001c0003t0001g0102 a0001c0003t0001g0124 a0001c0003t0001g0130 a0001c0003t0001g0134 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0004t0007g0038 a0001c0005t0002g0082 a0001c0005t0011g0073 a0001c0006t0003g0016 a0001c0006t0004g0174 a0001c0006t0005g0026 a0001c0006t0005g0115 a0001c0006t0008g0047 a0001c0006t0013g0029 a0001c0007t0002g0067 a0001c0007t0002g0071 a0001c0007t0002g0074 a0001c0007t0002g0079 a0001c0007t0002g0129 a0001c0008t0001g0063 a0001c0008t0001g0065 a0001c0008t0001g0083 a0001c0008t0001g0172 a0001c0008t0016g0116 a0001c0009t0004g0096 a0001c0009t0004g0097 a0001c0010t0007g0004 a0001c0014t0001g0049 a0001c0023t0004g0052 a0001c0024t0012g0081 a0001c0025t0004g0027 a0001c0027t0009g0078 a0002c0030t0001g0169 a0004c0026t0001g0088 a0005c0016t0001g0166 a0006c0028t0002g0045	76	176	0.4318	-2281	c.126 others(19): Show c.1267-6151_1267-3871del	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	11/43			chr13	TogoVar
PXDNL_chr8_51314577_51814445	51533462	TTAAAGTT others(2274): Show TTAAAGTTTGAGAAGACCTCTCCCTCCCCCTCCCCCTCCCCCTCCCTCTC CCTCTCCCTCCACGGTCTCCCTCTGATGCCGAGCCAAAGCTGGACGGTAC TGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCA GCCTGCCGAGTGCCTGCGGACGCCGCCACGCCTGACTGGTTTTCGTTTTT TTTTTGGTGGAGACGGGGTTTTGCTGTGTTGGCCGGGCTGGTCTCCAGCT CCTAACCGCGAGTGATCCGCCAGCCTCGGCCTCCCGAGGTGCCGGGATTG CAGACGGAGTCTCGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGC AGTGGCGTGATCTCGGCTCGCTACAACCTCCACCTCCCAGCCGCCTGCCT TGGCCCCCTAAAGTGCCAAGATTGCAGCCTCTGCCCAGCCGCCACCCCGT CTGGGAAGTGAGGAGCGTCTCTGCCTGGCCCCCCATCGTCTGGGATACGA GGAGCCTCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCTGC CCGGCCGCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGCCGCCA TCCCATCTAGGAAGTGAGGCGTGTCTCTGCCCGGCCGCCCATGTCTGAGA TGTGGGGAGCACCTCTGCCCCGCCGCCCTGTCTGGGATGTGAGGAGCGCC TCTGCTGGGCCACAACCCTGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGC CGCCCCGTCTGAGAAGTAAGGAAACCCTCCGCCTGGCAACCGCCCCGTCT GAGAAGTGAGGAGCCCCTCCGTCCGGCAGCCACCCCGTCTGGGAAGTGAG GAGCGTCTACGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGG TCAGCCCCCGCCAGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCAGTCCGGGAGGAGGTGGGGGGATCAGCCCCCACCGGCCAGCCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAGCCCGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGATCAGCCCCCACTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTAGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTATCCAGGAGGT GAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGCCGCCCCGTCCGGGAGGGTGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCTCTCTGCCCGGCCAGGACCCCGTCTGGG AGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAATGGCGGTT TTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGAT GGTTGCCGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTT GTTCTGTACTAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCTGTGA CCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGG GTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTT GAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATCTTAAGTAC CCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAA CCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTG TCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATC AATAAAAAAATAAATAAATAAATAAATAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp2 NA18956.hp2 others(2): Show HG03669.hp1 HG03669.hp2 NA18956.hp2 NA19003.hp1 NA19086.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0023	a0001c0011 a0002c0021 a0003c0003 others(1): Show a0001c0011 a0002c0021 a0003c0003 a0023c0029	a0001c0011t0002 a0002c0021t0002 a0003c0003t0001 others(1): Show a0001c0011t0002 a0002c0021t0002 a0003c0003t0001 a0023c0029t0001	a0001c0011t0002g0100 a0002c0021t0002g0092 a0003c0003t0001g0021 others(2): Show a0001c0011t0002g0100 a0002c0021t0002g0092 a0003c0003t0001g0021 a0003c0003t0001g0082 a0023c0029t0001g0055	5	122	0.0410	-2281	c.380 others(19): Show c.380+21097_380+23377del	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
ARID5B_chr10_61896699_62101944	61915592	TGGAGGGA others(2273): Show TGGAGGGACCAGTTGGTCTAGGTATCATCTAGACACCTGGGGTGCATATT TAGAGCTAATGTACATCATTTGGCTATGGAGATGGTTGAAAACACGGCAA GCTAAGGCAAACTAAGGCCCATAGGCCAACTCTGGTCTACTATCTGTCTT TGTTTGTTTGTTTTTTGTTTGTTTGTTTGTTTGAGACAGAGTCTCGCTCT GTCGCCCAGGCTAGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTTC ACCTCCCAGATTCAAGTGATTCTCCTGCCTCAGCCTCTGGAATAGCTGGG ATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTGTATTTCTAGTAGA GACTGGGTTTCACCATGTTGGTCAGGCAGGTCTTGAACTCCTGACCTCAA GCAGTCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGC CACCGTGTCTAGCCTTGTTTGTTTGTTTTTGAGATAGGGTCTTGCTCTGT CACCCAGGCTGGAGTGCAAAGGCGTGGTCTTGCCTCATCGCAACCTCTGT TGCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTGCCGAGTAGCTGGGAT TGCAGGCAGGTGCCACCCCACCCAGCTAATTTTTATATTTTTTTTAGTAG AGATGGGGTTTTGCCATGTTGGCCAGGCTGGACTACCTGTTTCTGTAAAT AAAGTTTTATTAGCACAGAGCCATGCCCACGTTTACAAATGGTCTCTGGC AGCTTTCGCACTATAGTGGCAGAGTTGGGTGGTTGCAGCAGAGACTATAT ACCACACAGAGCTTAAAACATTTACTATCTGGCCCTTATATAAAATGCCA ACCCCTCATTTAAAATAATATTAATAAAAGTAATAGTAAAACTAGGTCCT GACAGATTAATATGTGACATTTTATTTACTCTTCATAACAGTAATACTGT GAGGTAGATTCTAGTATCATCTCCATTTTGCGGGAGGGTAATTTGAAAGG TTAGGTAACTTGTCCGGGTTTCCAAATTCACTCACCTGGTGAATGACAGA GACTGAATGGGAACTCAAGCTGTTTTAATTCCAAAATGCAGGTGACAGAA ACATTGTGCTGTCCTGTTTACAAGTAGAGGAAACGGGAAGTATAAGAAAA GGGTGGTAAAGTTAGCTGAGGTTTTACTCTGTGAAATAAAACTGCGCAAC AGCTGTATCCGTCTTTCAAGGTCCCATTTAAAAGCCACCTCCTCCTTGAG GTCTTCCATTGACTGTCTAGGAACAAGGAAGCCACAGAGGCACAGGTGTA AGTGCCCTCTGGGTCAGGCAGATAAGATCAATGAGTGACTGGGCCAGGTC TGGGAGACAATATGATATTCAGGGGAACTGGGGAGCGCACGACTGGTTTG AGGCATGCCTCTAAAATGTTCCTCTTGAGCCAGGTGCCATGGCACATGCC TGTAATCCCAGCTACTTGGGAGGCTAAGCGGGGAGGATCACTTGAACCCA GGAGTTCAGGGTGAACCATGATTGCACCACTGCACTCCAGCATGGGCAAC AGAGTAAGATCCTGTTTCTAGTAAAAAAAAAAAAAAAAATTAATTAAAAA AATAAAATGCTCTTCAGTTTCTACCTAGCATTGCTGGGCAGGAATGTCAG TCTGAGATATTGACAAATCTTTCCATTTTTCAAGAGAAGCCAGAAACCTA GATTTTCATGTGATTTTAGTTGACCATTCTATTTATTTATTTATTATTTA TTTAAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGATGCCA TCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCTCTAC GTCAGCCCCGCTGAGTAGCTGGGATTACAGGAAAGCACCACCACGCCCGG CTAATTTTTGTATTGTTAGTAGAGATGAGGTTTTGCCATGTTGGTCAGGC TGGTCTCACTGCACCTGGCCCAATCCAATTTTTAAAACACTCTTTGTGGG CCAAACAAAATGTGTCTTCTGTCCAGATGTGGCCCACAGGCTGCCACCTT GCCATCTCTAGAGCAAAGCTTTGGACTATTACAGTTTTTAAAACTTTCTC ATATTTGGCCCATTTTCTGTAACTAAAGCAAAAAGAACCGTTGGTCCCAA AGGGGCTGTTAAAAATGGGGTGGGGAGAGCCACGTGGATAAAGCCAGGGC TCTGGAGTCTGGAGGGATGGCAGGAAGAGATGTGCAAGAAGAAGAGCTTG GCTCTGCCCTGGAGTCTACATTTAGGCTTGA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	242	0.0041	-2280	c.276 others(19): Show c.276+13187_276+15466del	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSMD3_chr8_112217928_113441939	113044263	TATGAAAT others(2273): Show TATGAAATAGCAAATTTTGTTTTCCTTCACTTTTTCAATTTCAATTTTTA ATAGGAATTTACTTCCTCTAAAGGAATGTTACTGTCTTCAGTGTCTAGAA CAGTCCATAATAGGTAGTAGTCATTCAATAAATTCTGTTGAATGAATAGA TAAAGATTGTTAAACATTTTTTTCTGATTTTGACCCTAACACTATGCCCA GCCTAGACTGATTCACAGCCCAACTCTTGAGAGACACAGAGCAGATATAA TCATACAATATTCTATAAAGTATCTTTTCACTACAAATAAGTAAAATGCC AAAAATTTAGTCATTTCCTTAAAATTTAGTGGATTCTTATATGCCTTATT GAATAACAAAGAAAATGCTGTAATTAGTACTAGTTTTTTGGAACTGGAAT ATAACTGTGAATATATCAACATAAATGTGGCCCACATGTTACCAAAGTTT AAAAACCACTAATTTACACCATCTCATCCTTTTTTAACCTATTTCATTTT CTCCAGTTTCTCCCCAAATATCCTTTGCATTTTATTGTTCTGTAATTTTG TTTATGCTGTTATTTCTTTTGTCTGAAAAGATAAAGTATAGAAAATCTTG TCTGGAGAGTGTGAAACTAGTTAGGATGCTGTTGTAATAATTTTGATTAT ATATTTTGAGGACTTGCCCAACTGACTTGACAAACTACTACTTATCCTTA AATATTCAGCTCAAATGTCACTTTTTCACTTTTCTGTGAAATGTGTGTTT CATCTTGATCCCACAACACTTTATATTGCCTCTATTTTATGTGCAACGAT CTAAAAATCCCATAAATATTTGTCTACATGTATTACTATTATTCCTTAAG GGTAGAGAAAAAAAGTCCAGTATCCATACACTCTTTAAATCTTGGTTAAA TGAAGGGGCTAAACAAAACAAAACAAACAACAACAAAAAAACTGCTTATG ATACCAAGAACAATCGCCTTGCAATGCTTTTTTGAATGCCCTACTAGTTT TCTAAAGGCATACCTGCATATATTGGTTACTCAATCATTCCTGACACCAC CCTTTCCATAATTGTACCATTTTAAAGAATTTTATTCGTTTCAACCAAAA CGTCTCACGTTATTGTCTTTTTGTCCTAACACAAACTTTGGGGTTATTTG GAATACATCTAACTCTTCTTCTAAATATATGCCTTTAAATATGTAAAAGC AGCTGGTCTATATGCCACTAAATTCTAATTTTACTCTAGTCTATGGTTTC TAAATTAAAATCATTGATCCCGTTCCTCTAATTCAAACAAAAAAAATAAA GCCAAAGCAAGTAATAAACAAAGCAATTATAAATCTACCAATCTTAAAAA TTCATATGCTATACCATGAAGACTTCTTCTAGCACCTGAACTGAACACTG GGAACTGGAGTGTGGTTCAGACAGCACACACCTCTGCTAATATGAAAAAT TGTAACTATTTCCATGTTTCTTCTCAGGCTAAAATTCAACTTACACTTGT GCCTCACCAGCACGAAACTCGGCACATCATTTTACTTTCAGTTGTTGTTG TTGTTTTTAATATTAGACGGAAGAGTACAAATTCTAAATACTAAGTTTTT TTCCTGTAAGCCCTAGCAATAATTCTTTTCATAAGACAAGTTGTATATAT TTTTTTCACAGAATTTTCTTTTAGACCAAAATATCTGGGAAATTTGTAAA CGACCCTTTTTACTTTTGCCTGCCTTTAAATGACTGAATCGATTTACTTT TAAATGTTTTACAAACAAACAAACCTTTTATTGAAGTAATTCCAGAAAAA GAAACTCTGGATCCTCAGCTCATGTGGTCTATCGGGAAGTACCCTCAGCC TGGCAAGCGCTTCCACTATTCTCATTGCCCAGTCAGCGGCCTCCTTCAGA CCTCTGCTGGGATACGACTGTCTCAGTCAGGCTGACGCCAACCACACGAG GTGCGACCCCAGGTGTGTGAGGGAAAGGCCCCTACCCCACAGGGAACAAC AGCCACGGGGAAAGGAAAAGCCCTAAAACCCTCTTGCGGAGTTTTAAAAA AGAAAGAAACAAACAACAACAACAAAACAAAACAAAAAAAGCCTTATTTG AACAAACAACAATAACAAAACAAAATAAAAAAACGCCTTATTTGTGCCCT GAGTCTTTCTCCACAAGAGCAGCCACCCAGGTGTCTCCCTCTGAGAGTTC TGAAGTCCGCGGGCCTGAGAGGAACGCAAAACTCCCTCATTCCGAGTCAG TCACAAGAGGCCCCGCCCCCAGCGCTGCTGG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp1 HG01257.hp2 HG01081.hp2 HG01169.hp1 HG01257.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0024 a0003c0002 a0012c0022 a0001c0024 a0003c0002 a0012c0022	a0001c0024t0002 a0003c0002t0001 a0012c0022t0001 a0001c0024t0002 a0003c0002t0001 a0012c0022t0001	a0001c0024t0002g0024 a0003c0002t0001g0021 a0012c0022t0001g0013 a0001c0024t0002g0024 a0003c0002t0001g0021 a0012c0022t0001g0013	3	80	0.0375	-2280	c.918 others(19): Show c.918-27364_918-25085del	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	5/70			chr8	TogoVar
SPATA17_chr1_217626344_217876696	217675515	TGTGGCTG others(2273): Show TGTGGCTGCTAATTTTTGAAAAACAAAATGGATCTCTGAAGCTAGGCAAG AAAAAGATTGCCATGTCATGTATTGCCAAATCTTGGTAGGTCAGAACCAC TGGTAAATACTAATAATGAATTAACAATTGTATAGCAGTTACTACTTTCC AGGCACCATTCTAAGTATTTTAAATATTTTAACTTTTCTCTGTAATCATC ATAACTAATTCTCTGAGGTATAGGTATCATTAAGATTACAACTTAAAATA TGAGGAAAGGGAATCACAGAAAGGTATCTTGCCCCAAATCGCACAGCTAG TAAATGAAAGTGTTAGACATTGAACCCAGGAGGTCTGGCACTCACATTTC TGCCATTGCTGGTCACTTTTAATCTTGGCTTTACTTCCAATCCTCTTTTT CTGAAAATATGGATGAGAACAACTATACTGACCTAGACAGCTCTTAGGGA CATTTTATTACTCATACCCTGTTTACTTGGAAAACTGACCTTGTGGCCTG ATAATTCATGAGCATCCTTATTGGTAGTACATTTCACGCAGGAATTCTAA ATTAAGTGACAATTAACTAAGGAGTAAGTTGAGGCATTCCAATGCAGTGT CACATGCTTCCCCTTGTAGGCAGAATTAGATGGCTCATGACGAAAAACCT CACCATCTAAAAGAATATTCAGGCTGTGGCCTCCCTTATTCCTATTGCCA GCATCAGGATTTGTCATCCATCATAAGCCTAGATGAAACACCCTTCCTGC TCCAATTTTAAATGGATTTTTGAGGAGGATGTAACAAATGATAACAAAGA GAATTTGTCATTTCTTTGCTGGTTGAAGTCCAAGGTGCAGATCACACAGA TTTTTGAAATTTAAAAGTCTGTGTTTAGTTTCATTTATACCTCTACCGTG CCTGTTTTGGGCCCTGAAGCATCAATGGAAAAGAAAAGGGACTCTAACAT TTTTAAAACATTAGGAACAATCACAAAATTATTGCTAGGACTGATAAAGT CAACTGCTGTTTCTAAATTAATGTTTAGAGTATACTAGTCTTCAATAACC TAAACATAATGGGGACATATAATCTGTCACAGACTTTGGAATGTAATAAT GGTAAACTTTATGGGAAATATTTGTTCCTTGTAATGCCTTTGAAAAGCCT CCTTTGTATCATGTCATACATCTTGAGTCTTCCTTTGCTTGTCTGCCCTA GAACAACTGGAGCAATATCACATGAATGCAAATTTCAAGAAGTGCTGGTG TGCAGCATCTTAGAGATCTCTCTTATAAAATGAATTCTGTCACAGGTTTT TATCTTAGTTTCAAAGATCTATGAGGAATGAAAAAAATGGTAATAATCAA AAGCTTACAGAATGTTAAAGAACTACAGATGTAATTAATTGTTTCAAGTA AAATTCCTTTTACCCTGAAATCCCCATACCTGTTATTTATCAATCACCTA TACTCGCTTAGTGAAATTCCACTGGAATCTACAGTTTCAACTGATTCTTT ATTATTTTAAATTATTTAACTTGATTATAGTGCCCCCAAACAATTTTGTT CAGATTGAAATGCTCACATTTAGGGAAACAGAAGCAATAGTAACAAGAGA AACAGTAGAACAGAGGTCATTTAAACAACAAATTTGCCAAATAACATCAC TTTATTGGCTTATTTCCCCTTAGAGCTTTCTCCGCATATAATACAAATTT TAATTTATAAAAATTAATCTAACTTGATATATCAAGTAACCATTTTCTTT TGTTTCCCACTTGTGTCTAAAATACAAAAAAAGTTAGAAAAGATTATATG GTGGCTTTACTTAAAAATGATTAAATATGTGTCAGATATATAAAGATTCG TCTCAATCCCTTAAAGTACTTACCATACTATTTTCATATTTATAATACTA TGAAGTAAGCATTTGTATTTAGAATAATGACCCCGAGATTACATAGTTAG AGATAGATAGGTTAGTTAATTCAGAAAAAGGATACGGAAGGTCTTTTATA TGCTAGACATTATGTTATTGTTCTGGGCATACAGAATGAATAACAGTTTT ATTCATACAAAAAAGGGTATCCCAAAATATCAGCCTATGGAAGAAAAGAA GGGGCCATCTGGACAACACCAAGCTTTTACCTGATGATGGAATAGATATT CTAATGTTCCATCCCCATGTAAAAGTATATTTCTTCCTCCCTCCTTCTAC TTCTAGTACCAATATCATTGTGAAATGATTAAATAGATTTGTAGAGAAAG GAAGTATAAGGCTAGTGAGAGTGGGGAAACA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0136 a0001c0001t0008g0136	1	252	0.0040	-2280	c.291 others(17): Show c.291+6434_292-5462del	SPATA17	ENSG00000162814.11	transcript	ENST00000366933.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 1673 hits)