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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KIAA1522_chr1_32736830_32779970	32760811	GAACTCCT others(1992): Show GAACTCCTGACCTCGCGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGA TTACCGGTGTGAGCCACCGCACCCGGCCATGTGGGTGTGGTTTTGAGAGT GCCCACCTGCGGAGGTGGCCCCAGTGGGACGCTGCCTGCTGCCTGAGTCT CTGCCCTGGTAAACTGTCTCTGAGTTGAGGAGCCCGCAGGTGTGCTTCCC GGTGTGCCCTCCGTGCTGGGGGCGTGGCCACCAGGAGCAAGGTGTCTTCT CAGATCCAGGAAGCCTCCTCCCCCAGGCATGTTGGGGATGGGGGTGTGGT ATGGGATGCTTCCCTCATGGCCTCAGCCCTAGGCTGCACCTCTGGACTGC CAGGGGCAGAAATCCCTGGAACAAGGACTCTAAGCGTGGCTGTGGGCAAG GTCTTTCCACTCTCTGGACCTCAGTTTCTTTGTGAAGTACCCCTCCCAGT CACCTGAGACTCAGGTTGCTGAGCCCCTCCCCAAGCGAGCCACAGGTGTA TAGATCTGGGGTGACTCGGAGAGGCTGCGAGCTCTGACTTGGGTGGGGAG GGGGAGGGGTGTCGCTGGGGCAACCAGATGTTATCAAGTGTAAGCCCTTG GATCTCTGGGAATTTGCAGCTGTGGCCCTGACTGCCAGCTGTGGGCCTGG GACCTTGATGAGCTGATGTTCCTCCACCCCCATCTTGGCAGGAGCTCAGC CCTTAGTTTCCCTGGTTAGAGGGTAGCTGAAGATGACTGTCCTGTGTGGT GAAAGGCTCCAGTTTTAGAGCCAGCCAGAGTTCAGGAAGTCACTTAGCTC TCTGAGCCTCGCAGGCCCATGATCAATTACTAGGAAAGTACCTTCCAGTA CCTGCCTCGAAGAACTTTTGTAAGAGCCATGAGGACAGAGACTACGTTTT GCCTTTCACCACGACCTGGCATGGTGCCTGGCATGAATTAATCACCCTGC AAATGTCGGTCTACTGGTCTTTTCTGTTTGTGTGAGACTGATAAGAAGAG TGGGTGGGTGGGTGGATCTGGCCTAAGAGGGGAAGAGTGGGGAAGGTAGG TGGTCGAGAAACCTCCAATTTGTAGGGATGATGGGGTCCCATGACCCTTT TTCAGAGGGGAGATCAGGTTTGTAGCTGGCACAGTGCACAGAACGTGGCT TTTGGATTCAAGTTGTTCTGAGTGAGAATACTGCTTTGCCATTTACACCA TGGAGGCCAGAGAGGGCAGCTTTATAATGCTTGCTCCCTCTGGTTTCCAT TTCCTCATCTATAAAATGGGAATAAAAGTGCCTACTTCTTAGGATTATTG TTTAGATCTCATTGATTTGTTGATGTGACTATTCAGCTCCACAAATGTTT GTTCTCTGGAGAGCAAGATCTCAGCTTGTACTTGAGTAGTCTCCAAGAGG CCAGTGTTAGGGTGGCAGCAACTGGGGAAGGAACTGCAGGGGGGTCGTGT TGCTTGGGAGCCTCTGTGAATTTTTAGTTCCCTAGGGACTCAGAGAGAAA GATGCTATGACAGAGAGGTGTCCTTAGGCACGGCTGGTGGGATACTGCAC AGATACATATATATAGTTCACAGACTCTCTTTCACAGTCTCTGCTATGTT TTTTAGAGTTATCAGGGGAATCTTTTTTTTTTTTAAGCTTTATTTTTATA TATTTACTTTTTTTTTTTTAGAGACAGGGACTTACTGTGTTGCCCAGGCT GTAGTGCAGTGGTACAATTATAGCTCACTGTAACCTCGAACTCCTGGGCT CAAGCCCAGCCTCCCAGGAAATCTTTTATTTATTTTTTTTTTTGAGACGG AATTTTTTTGCTCTCTTGCCCAGGCTGGAATGCAATGGCTGCGATCTCGG CTCACTGCAATCTCTGCCTCCCGGATTCAAGCGATTTTCCTGCCTCAGCC TCCCAAGTAGCTGGGATTACAGGCGCCCGCCACCGCGCCTTGCTAATTTT TGTATTTTTAGTAGAGACGGGCTTTCACCATATTGACCAGGCTGGTCTCA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	348	0.0029	-1999	c.236 others(17): Show c.236-6961_236-4963del		KIAA1522	ENSG00000162522.11	transcript	ENST00000401073.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR39_chr2_132411805_132651582	132488843	TCAGCACC others(1990): Show TCAGCACCTCCACTTCTTCTCCCTGCAAGGGAGGGTGGGAATACTGTGAT TGCCCGCAGGTTATCTGAGTGTAGTGAGGTGTGCACCCTGTGGGACCACT GTCCCATCCTGTTCTTTTTCTCTCTCTCACTATTGAGGACCCCTATGACG CGGAGTCTATCATGGTTGCAGCCTGCTCCACGTTTACCTCTTTGACCTGG AATTCCACCAGGGCCTGTGACACTTGCTGCCAGGGTCCTCCTCTCCTTAG ATGACATCGAACTCCACAGTCATTCCATATCCTACCCTGCGAAGGTACTT CCTGGGGTTATTCTTCTTTACAGCAGTCTGGTACACAAATGCATCTTCCT CGGTATCATTCCTCTTGGTGAAACCATATCTGTTTCTTACGCTGAAATAT TTTATTGTCTCCAAAACCTTCCTTGCAATGACCTTTTCCCCATTGGCAGG CGCCGGCGCTGTCCGTGGTGCTGGGCTTGGTGCCGGCAGCACCGAGGGCA GGGACGAGGGCGGTGGGGGCCGCTGGCGGCTCCTGGGCCGGGGACTTGCT GCTCCTAGCTCTGGTGACTGTGACTGGGGCTGGCGGCAGGCCGTGGGGCT GCTCAGGGTTCCCTGCGGGCCGCTCCCTCCTGGACTTTCTTGACTGTGTG ACTATATTCTTAATTTTCCCGGAGGACTTTTTGATGAGCCTTTAGAGTAC TCTGTGAACTTCATTTTGACTCATCAGTGTGGCTGCAGGTACCGGGTAAG GAAAACCTTGGGTATGCATGGCTGGGGTGGGGACCAGAGTAGGGGGCAAG ACACATTTGTATGATCAGTTAAATAAGAGTGTTGATACTGGGTGGATCAA ACCTTTATTCTAATTCTTTTTACATATTTTCCTTTTATATATGCACTGCA GTGCCCTAAAAAATGCCATATTAGGAGTGCTGTATTTTTAATTTTTAGTA CAAAAATTACTTTTCTGTATTAAAAATGTATTTGTATTAAATTTATGATC AATTTAGTCAGTTACTGACAGCTGAAAAGCTACTTCAGAGAGGAGAGGAG GCTCAGCCTAGATTCCCTTTGGACACAGGCCCAGGAGCTTGCAGGCAGAG GATCAGCTCTGGGAGGCCCCAGAGAGAGTTTATGGTGAGCAGAATCCTCA CCAGGTAGTCCCCAGGCACCTGGCATGTGGCACCGTGCTTGCTCCTGTGC TCACCTGCTTTCTGTCCTGCAGTCAGCAAGCCACTCTCTTCTGCCAAAGC CTGGCTCACTGGGGACACAAAGGTCTTCCCTACTAGTTGAAAGAGCCAGA GAAATTCATCTCCCTTAAGGAAGGAGAGGAGAGAGAGAAATAGAAGTTTG GAGGGGCAGGATGCAGCCTATTAATGCACATATACTTTTCTTTGCTTCAC TCTAGAGTTTGGAGATAGCGAGAGATGAAAAGAAAGAAATGGAAAGGGAT ATTATGAGGGAAAAACCCACTAAGAATGAGATATTCTTAATAATCTAAAG AAATCCAGTTTTCTTTTTTTCAGGTCAAATCCTGCTTGTCCTCGGAATTC TTTAACCATCAGCTGTAGATTTAGACCGAGGAGGTTTATTCGATATTTAA CGTATACTTAATGGTCATCTGCTGTATTCCAGACACTTCTACACAACGGA GGGTTTGATAGTGAAAAAGAGACAAAACTCTTTGACCTTGTGGAGTTAAC ATCTAGTCGGAGAGACAGGAAGAACCAGTACCTAGAGCATGCCGATCGCT GGTGAATGCTACAAAGAACAAGCATTAAGTGACCTGGGAATGTGAGGCAG GAGGGGGAGGATGATGGCTATTCTAAGAATGATCAGGGAGGCCTCAGAGG CCAGATGATGTGGGCACAGGCCTGAACAGGGTGAGGGAGGTAGGGTTTCA AGGGACTGAGTGGGTTTGCTTCTAGTAGCCCCTCCTCAGCCAAAGAGGAG CCTCCAGGGACCCCTAATCCAGGCTAGACAGGAGGTACTGCTGTGCAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0025 a0005c0008t0001g0025	1	208	0.0048	-1997	c.856 others(19): Show c.856+70951_856+72947del		GPR39	ENSG00000183840.8	transcript	ENST00000329321.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC44A5_chr1_75197129_75616114	75409676	ATTGATAT others(1990): Show ATTGATATTTCAGGAAATAGCCTGAACTATGAAGCAAACATTTGCACCTC AAAATATACCCAATGGTATCACTTCCCAAAACACAATGCTACTACAGATG GTCATTGATAATTATGTAGGGCAGGAGTCTCCCAATGCCTCTTTAAGAAT CATGCCCAAGGCAGCTTCAGCCCAAGGTTGTTTCAGAACTTATTCTCTTG ATTGTCTAGTAGCTTTTGCCACTTCAGTTAACATCCTACATGACATACAT ACATACATATATACTTGCAATACACACAAGCATACATTTTCCAGGATTCC TCAGCTCACATTTTTCACCTGTTCCTACCTCTCAATGCTCTCAAAATTAA CCTATTCTTATTCCAATAATTCAGATATAATGTGTCTTACTTTTAAATCC TCTTACCAGGTGTCTTTAATACTATAGTGTGAATTATAGAGAGTATATGT TATATATGTTACACATTTCAGAGTGAAATTGCCCATATTTGTATTAACTA CATTTTAAAAGATGTCCCAAAGCAGAGAAATATAACGCACAAATTTCTTG CAGAAATTGTGGCATCAGATGACGGGTGGCAGGCAAAGGAGGTAAAGAAA AGGATAGACTTGGCCATAATTATGCCATTTCTGAATTATTCATGCAATTA ATTACCTGCCATGCCTATTTATAAGGCAAGTCATGGGTTCCAACATATAC TATCGCATCTTTTCATTTGTGATAAAAAAAAAATAGAAGCCAATCTCTAT GCCCAACAAAAGATTAAGGGTTCATTGAATGAAGAAGACCCATGTGGTAT CAACTCAAGTGAAGTCATCTTAAATAAACCCATGTTTCTAGGAGATCATA TCTTTTGTCTAGAATTAGAACTGTCTTTTGAATAAAGAAAGGTCCAGCCT CTTTCCTTATCAGCCTTTATAATATGCCATAATGGTGTGTGGCAGGGGAG CTGAGAAAAGGAAAGGTAGAAATTGGGTGGAAGATAGAATCTAATGGCCA CATACAAAGTCACAAGCTTCAAAACGGTTCTCAACAGTTGGTGACAAACT GGTATAACTGATTTTTTGCTTTGTTTTGGGGGAGGGAGTTTGTAGAAATC GTGCTTATTACACTTATTTACATTTTAAATGAAAATAGATTTGTATTGTT TTCATTCATTCACCCAAAATTTCTTGAGCAGCTGCTCTGTGCTAACGGTG TGACACTAAGGCCACAAAGAAATAGTGAGACCCTGTCTCTGCCCTTGAAT AGTTTGCAGTCCAGTGAGAATGAGAATTTTGTCATATCTCTTGAGGTAGT GATAGTGCATGGGGTGTAATCATAGTAAGACATGGGGAAAAATTAAAACG TGATGATCAAAGTATAGTGTGGAAGTTACCAGCTTTGGGGATTCAAACTG GACTACTGGCATAATGATGTACTTATTTTTCAATGCTAGAAACATAGTCG ATGTCCGAGTTTTATCTAGGTCCTTGGGACTAGAGAGCAGATTAGATAAA AAACAGTATTCATCATTCCCTACTCATTTCAATGTATCAATTTAAGCACA TTTAGAGAGTTGAGAAGGAAGAAAGGGGTCTCAAGTCCAATGAGGCAGGA AAAGCTAAATATGCCCCATGAAGTAGGCTATGCAAATTTGTCTAGTGTCA ATGTACTAGTCAATTCTCCAAACTTCAAGAGATATCTGAAGGTTATGTAA TCTTCACATATTTTCACCTGCCTTTGGAGAATGCATAATTACGTTTCCCC CTCTAAAGGTCAGAAGCAAAACAATATCAATACTTCAGCCCAGATAGTAT ATAAAGAGAAAAAATAGTGTGCAAGTTGAAAGAGCATGAAGTACCAACTA TTTGATATATTGGAGATAGGGAAAGGAATAAACAGCCACAAAAGGGGAAA TAGAGGGATTCTTTATTTCACAATTGTCAACCCATAACAGAGCCAAATCA CCACGTACAGAGAGAACAAAACCATGATCCTCAATGAAAAATAAACTC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	156	0.0064	-1997	c.14- others(17): Show c.14-15052_14-13056del		SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	2/23						chr1	TogoVar
ATP11A_chr13_112685038_112892168	112787407	GTGTAGAC others(1989): Show GTGTAGACCCCTGTGGAGACCTACTTAATTCACACCGGGTGTCCTGATGT GTAGACCCCTGTGGATACCTACTTAATTCACACCGGGTGTCCTGATGCGT AGACTCCTGTGGATACCTACTTAATTCACACCGGGTGTCCTGATGTGTAG ACCCCTGTGGAGACCTACTTAATTGACACCGGGTGTCCTGATGCGTAGAC CCCTGTGGAGACCTACTTAATTCACACCAAGTGTCCTGATGTGTAGACCC CTGTGGATACCTACTTAATTCACACCGGGTGTCCTGATGCGTAGACTCCT GTGGAGACCTACTTAATCCACACCGGGTGTCCTGATGTGTAGACCCCTGT GGAGACCTACTTAATTCACACCGGTGTCCTGACGTGTAAACCCCTGTGGA GACCTACTTAATTCACACCGGTGTCCTAATTCACACCGGTGTCCTGATGT ATAGACCCTTGTGGAGACCTACTTAATTCACACCAGTGTCCTCATGTGTA GACCCTTGCGGAGACCTACTTAATTCACACTGGGTGTCCTGATGCGTAGA CTCCTGTGGAGACCTACTTAATTCACACCGGATGTCCTGATGTGTAGACC CCTGTGGAGACCTACTTAATTCACACCAAGTGTCCTGATGTGTAGACCCC TGTGGATACCTACTTAATTCACACCGGGTGTCCTGATGTGTAGACCCCTG TGTAGACCTACTTAATCCACACCGGGTGTCCTGATGTGTAGACCCCTGTG GAGACCTACTTAATTCACACCAAGTGTCCTGATGTGTAGACTCCTGTGGA GACCTACTTAATTCACACTGGGTGTCCTGACGTGTAGACTCCTGTGGAGA CCTACTTAATTCACACCGGGTATTCTGACATGTAGACCCCTGTGGAGACC TACTTAATTCACACTGGTGTCCTGACGTGTAGACCCCTGTGGAGACCTAC TTAATTCACACCGGTGTCCTAATTCACACCGGTGTCCTGATGTATAGACC CTTGCGGAGACCTACTTAATTCACACCGGTGTCCTCATGTGTAGACCCTT GCGGAGACCTACTTAATTCACACCGGGTGTCCTGATGCGTAGACTCCTGT GGATACCTACTTAATTCACACCGGTGTCCTGATGCGTAGACTCCTGTGGA GACCTACTTAATTCACACCTGTGTCCTGATGTGTAGACCCCTGCGGAGAC CTACTTAATTCACACCGGGTATTCTGACATGTAGACTCCTGTGGAGACCT ATTTAATTCACACCGGGTGTCCTGATGTGTAGACCCCTGTGGAGACCTAC TTAATTCGCACCTGGCATCCTGACGTGTAGACTCCTATGTAGACCTATTT AATTCACACCGGGTGTCCTGGCGTGTAAACCCCTGTGTAGATCTACTTAA TTCACACCCAGCATCCTGACCTGTAGACCCCTGTGGCGACCTACTTAATT CACACCCGGCATCCTGACGTGTAGACTCCTATGTAGACCTATTTAATTCA CACCAGGAGTCCTGATATGTAGATCCCTGTGGAGACCTACTTAATTCACA CCTGGCATCTTGACGTGTAGACTCCTATGTAGACATACTTAATTCACATT GAGCATCCTGACATGTAGACCCCTGTGTAGACCTACTTCATTTACACCAG GTGTCCTGATGTGTAGACCCCTGTGTAGACCTACTTAATTCACACCGGGT GTCCTGATGTATAGACCCTTGTGGTAGACCTACTTAATTCACACCGAGTG TCCTGATGTGTAGACTCCTGTGGAGACCTACTTAATTCACACCAGGTGTC CTGATGTGTAGACCCCTGTGGATACCTACTTAATCCACACCGGGTGTCCT GATGCGTAGACTCCTGTGGAGACCTCCTTAATCCACACCAGGTGTCCTGA TGTGTAGACCTCTGTGGAGACCTACTTAATTCACACCGAGTGTCCTGACG TGTAGACCCCTGTGGAGACCTACTTAATTCACACCGGTGTTCTGACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18966.hp2 HG00408.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0036 a0001c0002t0002 a0001c0005t0036	a0001c0002t0002g0088 a0001c0005t0036g0172 a0001c0002t0002g0088 a0001c0005t0036g0172	2	254	0.0079	-1996	c.162 others(17): Show c.162+2188_162+4183del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
CDK14_chr7_90591321_91215590	91118896	CCATGTCA others(1989): Show CCATGTCAGCCTGGCCCAGTCATCACATCACGTGTGCTACGTAGTGACCA GCCTGGGATGGCAACTTCTGAAAAGGCCATCTTTCTTGATTGCCAGATGG AAATGCCTAGTATTTTTGGAAAATTTTTAGTGTGTGTGTGTATATATATA TACATACATACATATATATACATATACATTCTTAATGTAACACAAGTCTC TGAAACAAATAGAGAACAAATGTTACTGTGGAGAAGGCTTTTTATGTGCT GATTTGTAGAGAAAAGTGTGTCTTTGTTCTGATATTCAGTAATTAAGTGT TCAGGCCAGACATGGTGGCACATACCTGTAATCCCAGCACTTTGGGAGGC CGAGGCAGGCAGATTGCTTGAGCTCAGGAGTTCGAGAACAGCCTGGACAA CATGGTGAAAGCGTATCTCTACAAAAAATACAAAAATTACCTGGGCGTGG TGGTGGCATGTGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGG ATGGCTTGAGCCTGGGAGGCTGAGGTTGCAGTGAGCTGAGATTGCACCAC TGCACTCCAGCCTGAGTGACAGAGCCAGACCCTGTCTCAAAAAGTAAATA AATAAAATAAAAAGTGTTCAAGTAACTCAAAGGATATATGCAGCATTGCA GTAGTTCCTCTTCCTTCCTCCCTCTCTTAGTTTGAAATATGTTAACAGGC TAAATTGATAGCATGGTAAAGAGAGCAAATTTTAAACTGTACACATTGTC TTGTGGGTAATCTGCCAGTATCTTGAGCTACTTCTGGACTTAGCTTTTGA ATACCCTCAACATAGGGGTCAATTTTGGCCTATCAGGGGCATGGTGGAAA GTTATGAATGATTTGGAGATAAAAGATCTCCAGATAAAGTATGATGTATA AATGACAGTCAGAAGATGTTACTGTTAAACTTGCCACTCCATAGGTAAGA GTCTTCATTCTTCATGTTATTTCTCCCTGTTGAATAAAAAGCACAACTCT CGGTTGCATTTGTACTCCCACTCTGAATTTCAATTGGTCAGACAAAGAGT GGGGCTAGGTTTTTGACAAGCTACCTCCTGGTATTGAGAATGGTTTTAAT TCATGAGGGTTACAGCATATGCTTTTTTAAAGTATTTAACCTGCATTATC ATAATGAGGGCCCTGGCTTTATAAATCCCTTCACCAATTCAGTGGAACAA AACAAAAAGTGGACTTTATTTGTGCTGCTACCTCATACACACATGCACAC AAGCAAGCCTGAATTTCAATTGCAAGGCTGTGTTCCTCTTCTTGGCTCTT TTGAGATCCCCTGACCTGAGCCCAGCCAGTCAAAGCTGCTAGAACGTGTT TCAGCTCAGCTCCTCTTTGGGAAATCAAATCAAGCTCACAGGACAGAAGG GTTGCTCAGAAAGTCTCAAAGGTTGCTAATTGAAAAGAGATTTTTTTAAA AGGTGCTCAGAACTACAGTCATCAGTATATAAAAGCCTTTACAAAAATGT AAAAATGTATTTTCTTCACATATATTTTTTAAACTAGATGTCAGGTTATA ACACAGTAGAAGCTTTTCCTCTAGAATTATTTGATAGCAATACAAATATT TTTTCTATGACGTTTGCCTTTTTCACATCAACTTGTAAAGCTTTTTTTTT TTTTTTGAGATGGAGTTTCACTCTTTTGCCCAGGCTAGAGTGAAGTGGCA TAATCTTGGCTCTCTGCAACCTCTGCCCCCGCCTGGGTTCAAGCAATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATACCACCACGC CTGGCTAGTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCC AGGCTGGTCTCGAACTCCTGACCTCAGTTGATCCACCCACCTTGGCCTCC CAAAGTGCTAGGATTACAGGCGTGAGTCACCGCGCCTGGCCCAATAAAGC TTTAATATTATTGTTGGTGTAGTTTTCTTCCCATCCAAATGCCTCAG	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	168	0.0060	-1996	c.28 others(16): Show c.28+693_*28+2688del		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
DOK6_chr18_69395888_69854087	69482342	TTTAAACT others(1989): Show TTTAAACTGGGCTTGGCACGAGTCTTCCAAATGGAAAATTATCAGAAAAC TAGAGAGGGGTTCATCCAAGTGTTATAAATAGAACGGGACTGACAATTTT CTTACAGCATATTTTGGGGAAAGAATTGAAGAAAAATTAACTTCATGTAT GTTTGTATCCCATGGAATTTAGAACATTAAGTGTCCTCATGACATTATAT GCTGGAAAAACAATTCTGTTCTAGGCTGAAGCTGCCCATTACCAAAGTGA GATTATATAGTAAAATTGGAAATGACAAAACAAATTAATATTTCATGCAG CATAAATATGATCCATTTTAGAGGTTTTAGTTTGTGTATCTTATGTATAT CTCTGCTATGCATCCTTATGTATATCTCTGCTAGCTAGGAGCTTCTGTTA TAAAAATTATTCTATAAAATAAGAAACTATATGAAAAAGGATGAAATAAA AAAAGTGATATAAGAAATATGAGTTCTGTAATTTAAAAGAACCTCTGCAG TAATTTACTAAATGCTGTTCTTTTAAAAATTATTTATTATTCTTTTTATT TTTTTAACTTTTAAGTTCAAGGGTACAAATGCAGGTTTGCTACACAGGTA AACTTGTGTCATGGGGGTTTGCGGTACACAGATTATTTCATAACCCAGGT ATTAAGCCTAGTAGCCATTAGGTATATTTTCTGATACTCTCCCTCCTCCT GCCCTCCACCCTCCGACAGGCCCCAGTGTGTATTGTACTCTATGTGTTCA TGTTTTCTCATCATTTAGCTCCCACTTATAAGTGAGAAAATTTACTGTTT TGTTTCCTGTTCCTGTGTTAGTTTGCCAAGGGTAATGGCCTCCAGATCCA CCCATATCCCTGCATGAACCTATATCTAGAAAACCCCCATAGTCTCAGCC CAAAAGCTTCTTAAGCTAATAAACTTCAGCAAAGTCTCAGGATACAAAAA ATCAATGTGCACAAATTACTAGTATTCCTATACACCAACAACAGTCAAGC TGAGAGCCAAATCAGGAATGAACTCTCATTCACAATTGCCATAAAAGGAG TAATTGCTGTTCTTTAATGATACAGTGATGTTATTAGATGAAAGAGTTTT GAGGCCCCATCTATCTTAGAAGACTCATTCTCTTGACTCTCTTGAAAGCT GTTTCAGCCTCTTTGGAAGGAATGAGCATCTATCTTTCCATAGCATTGGG ACAGACTACGAAGTACTCAGTTGTCTGCTGATTTCCTCTCTAGTCTTTGC TTTTCTTGGCTGCTGCTTTCTTCTGATCCCTTGTAACACTAGAGTCCTTG TAACTCCATTCTGCTCAGTGAACTGCAGGTGCCATTCAAAACTCAAGAAA GTGTTCCCTCCAGATTGTGATAGTAAGTTTGCAGGATAGACTTGCTTAAT TACAACAGTGCCTTAGCAGGCATGCAGGCTTTCCTCATGCTTGCCTAAAC GAAATTTAGAAACGGAAAGGGTTAGAGATGCATTAGTCTTTGCGGTTTTC TCATACTGGTTGTGGCATCTCCGCTGTTAATTGCTTTCCTTTAGTGATTA ATATAATTTTTCCATCCATTAATCTATATGCCAAACTGGGTTTGTTCGTT TGAATAACTTAAATATCTACATATTTTTATTTTTTAAATTAGCAAAGATG TTTAACAGTTTAACAATGAATCCTAATGTTTTATTTATCTGTTGTGTCAG AAAGCAAGAAGTTGAGGGATCCTGCTCTTAGTGGATATCATTGTGACCCT AATATATATTGAATTATTGTTCACTTAATTTATAAATCCTAAGTCCTGAG CCTTTCCATAAAAAAAATAATTAAATGTTCAATAGGTCTCTAAAATCCGA GACTGGCTGAAATGTTATTCTTATAAAGCATTTTGATTAACTGGTTTCTA TGTAATACGTATATGTCTTTAAAAGACTCAATGCTTTCTTTGCTTTAAGT AACTAAGATACTTATTTTATAGAAGGAATCCAAATAAATGTTTCAGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0168 a0001c0003t0018g0168	1	170	0.0059	-1996	c.66+ others(17): Show c.66+81035_67-80147del		DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASMTL_chrX_1398139_1457909	1408124	GCAGGAGG others(1988): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAG TGAACTATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTC AAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGC TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGG AGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCAAAT GCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACT GCACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTC AAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGG TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0074 a0002c0012t0001g0074	1	185	0.0054	-1995	c.164 others(19): Show c.1645+2613_1645+4607del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408229	GCAGGAGG others(1988): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAAC TATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGC TGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGCTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTC AAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCAAATGCTGG TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGG AGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAAT GCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACT CCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTC AAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGG TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp2 HG01123.hp1 others(23): Show HG00733.hp2 HG01081.hp2 HG01123.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02896.hp1 HG02922.hp2 HG03195.hp2 HG03239.hp2 HG03669.hp1 HG06807.hp1 NA18522.hp2 NA18998.hp2 NA19057.hp1 NA19074.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0003 a0002c0004 others(9): Show a0001c0001 a0002c0003 a0002c0004 a0002c0009 a0002c0012 a0002c0031 a0002c0033 a0003c0002 a0004c0006 a0005c0037 a0005c0038 a0006c0016	a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 others(10): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0002c0012t0001 a0002c0031t0001 a0002c0033t0001 a0003c0002t0001 a0003c0002t0003 a0004c0006t0001 a0005c0037t0001 a0005c0038t0001 a0006c0016t0001	a0001c0001t0001g0053 a0001c0001t0001g0129 a0002c0003t0001g0176 others(23): Show a0001c0001t0001g0053 a0001c0001t0001g0129 a0002c0003t0001g0176 a0002c0004t0001g0038 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0096 a0002c0004t0001g0138 a0002c0009t0001g0008 a0002c0009t0001g0072 a0002c0012t0001g0095 a0002c0031t0001g0131 a0002c0033t0001g0171 a0003c0002t0001g0047 a0003c0002t0001g0150 a0003c0002t0001g0159 a0003c0002t0001g0165 a0003c0002t0001g0170 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0003g0100 a0004c0006t0001g0016 a0005c0037t0001g0162 a0005c0038t0001g0113 a0006c0016t0001g0166 a0006c0016t0001g0169	26	185	0.1405	-1995	c.164 others(19): Show c.1645+2508_1645+4502del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ERC1_chr12_986223_1500931	1088904	GAAAGTGC others(1988): Show GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTATTGTTGTTGTTGA AAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTAT TATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTG GCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCA ATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTG CTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTG TTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCA TTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATG CCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAG ATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTT GTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATT ATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTAT GCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTAC AGGCAATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGA AAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTAT TATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTG GCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCA ATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTG CTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTG TTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCA TTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATG CCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAG ATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTT GTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATT ATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTAT GCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTAC AGGCAATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGA AAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTAT TATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTG GCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCA ATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTG CTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTG TTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCA TTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATG CCTGTGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAG ATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTT GTTGTTGTTGTTGTTATTATTATTATTATTATTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0130 a0001c0001t0083g0130	1	162	0.0062	-1995	c.108 others(19): Show c.1086+5325_1086+7319del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18						chr12	TogoVar
LHX4_chr1_180225264_180283984	180259322	AATGCCTG others(1988): Show AATGCCTGTACATGGATGGAAGGAGCCAGCAGAGGTGAAGCTAATGACAC AGAAGGCAAAGGGGATGGTTGCTGGGAGTCTCATTACGTGAGAAGGAATG AGCTGTGTCTGGTGGAGGTGCATGGTTCACCTGTGGGTGGCAGGCAGGGG CTGGGGCCCCGGGTGTGCGAGTGGAAGGCACAGTGGGAGGTGGGGAGGGT CCAAGCCGGGCTTCCCTCTTCCATGGGAAATGGGAGGGCGCCAGCAGCTG AGCCTGGGGCTCAGTGGGGGAGCGGGTGGGAGGTGCATTCTGACCCCCGG CCCCCGAGGCACCATCAGTCCGGTGGGCAGGGGCTGCTTTCCTGGCTCTG TGGATGCCCGTGCTGGGGTGGGGCAGGCGCAGGGCGGAGAGAGGGCAGGG TCCAGGGTGTGTGGGGAGGGACAGGTGGGATCGCCCTGGGGTCTGCTGGG TAAGGAAGGAGGGAAGCGAGGGACAGTGACAAGCCCAAGGGGAAGGGCAG TCCCTGGGTTGTGTGAGTCAGTGCCCTGGGGAGCTGGAAGAACAGCGGGG TCCAATGGTGGGAGGGTTGGAAGTGACCCCTGGAGCTGTGGCAGTTGCTG GTAACAACAAGGTCTGGGGGAGTGAGCGGTGGGAGGGAGGGTAGAGGCCA CAGCCTTCAGGAGGTCAAAGAATTGAGAGGGAGGGCCTGGAAGGATGGTC TATGTGGGGACTGCAGTCACCAAGGGTGTGGTGGGAGTGAGGGTGAGCCT GAGTTAAGTCACCCAGGCGGGAAGCAAGTGGAGCAGGGTGGCAGTGCAGC CACGGGGTGAGTGCCGGGGCATTGGGCTGAGGGCTGGAGGTGAGGGTCGG ATGAGATCACATGTGCAGGGCCCACTCTGCACAGGACACAGGTTGGTGCT AGGAGAATGGCAGCTGCCTTTATTACCAGCGTCTCAGTGACCCACTTGTG GTACATCATGCGGGTCTGCTCAGAGGTCGGAACTTACCATCAGGAATGTG CCAGACAGCCAGGGTGTAGGATTTATGCACCCCTGGTTCTAGAAGGCTCG GTCCCTGCAGGGCCTGCCTGCTGCCCCCTTTCTACAGGGTCCAGACCCTC AAGCCTGTCTTGCACTGGTGAGCAGCCCAGCCAGGTGGTCGGGAGCAGCA GGGGTGGACAAATCAACAGCAGCAGGAGCTCAGGCGGAGCTCAGGTGCAG AGGCTGGGACCCAGCACACAAGACCTAGTCCTCTCCTGGGGTCCAGAGTG GCCCATGAGAGTCAGCCGAGAAGTCTCAGCTCTTCTCTGCCCACACCTGG GCCAGCCGGAGGATGTGGAAGGTGGACAGCGGGCCAATTACATGTGTTGG GGTTAACACACTGGGGGGTGAGGGCTTCCCTGGCCACCCCAGCACTGCAG GGCTGGGAGCCTCATGCAGGGGGCTCAGAGCCACATGAGGGGGACAGGCC CTCTCCTCGAGCTCCAGCCTAGGTCAGGGCACCAAGGCCGGGTTTGCTGC CCTTGAAGCCCGCCGCATGTCCGCTGTGTTGTGTCAGAAGCACCGACTGC AAACCCCGGTTCTCTCGCTCGTTGCCCTTGGGAGCTAGGGGTCGGCACCT CACCTCTCTGAGCCCCAGTTCTTATCTGTTAAAAGGTGTCACAGTACCCA CCTTTCAGGCTAGGAGCTCAGGAGACAGTCTGGAGGCAGTGTGATGGCGA CAGCAAGTGGGATGTAAAGTCTTGTGGTTTAGTAAACCATGGGCCTCATT TCAACCCGGGACTTAATGCCCTTCTTAGAAAAGCTTTTGGCTGGGCACAG TGGCTCACACCTGTAATTCCAGTGCTTTGGGGGCCAAGATGGGAGGAGGC GGCGAGCAGGTGTGTCGGGAGGCTCGGGAGGCCGGGGAGAGGGGAGCTGA CCGCTGGGCTGCAGCACAGCTCTGGATGAGTGGGGCGCTGCCCTGAAGGG TGCGGGGAGTGGGCGGTAGAGAAGGGAGGCAGGCAGGGATCATAGC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01891.hp2 HG02717.hp1 others(2): Show HG01069.hp2 HG01891.hp2 HG02717.hp1 HG02965.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0021 a0001c0001t0010g0043 a0001c0001t0010g0140 others(2): Show a0001c0001t0010g0021 a0001c0001t0010g0043 a0001c0001t0010g0140 a0001c0001t0010g0142 a0001c0001t0010g0149	5	402	0.0124	-1995	c.249 others(17): Show c.249-7035_249-5041del		LHX4	ENSG00000121454.6	transcript	ENST00000263726.4	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
PCSK5_chr9_75885673_76367975	76304743	CATTTTAG others(1988): Show CATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCC ATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCA CAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGA AAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAA GCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGG CAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAG TTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTA TCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTC ATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCA TGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCAC AACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAA AGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAG CACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGC AGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGT TTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTAT CTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCA TTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCAT GTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACA ACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAA GTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGC ACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCA GAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTT TAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATC TCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCAT TTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCATG TGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAA CAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAG TAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCA CTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAG AATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTT AATTACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCT CATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCATT TTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTAGCCATGT GCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAAC AATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGT AGGATTCTGAGAGTTTAATTACCGTATCCATGTGCCCCTATGTTAAGCAC TTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGA ATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTA ATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTC ATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp1 NA19030.hp2 HG03486.hp1 HG03516.hp1 NA19030.hp2	a0016 a0017 a0016 a0017	a0016c0028 a0017c0027 a0016c0028 a0017c0027	a0016c0028t0062 a0017c0027t0005 a0017c0027t0057 a0016c0028t0062 a0017c0027t0005 a0017c0027t0057	a0016c0028t0062g0074 a0017c0027t0005g0013 a0017c0027t0057g0042 a0016c0028t0062g0074 a0017c0027t0005g0013 a0017c0027t0057g0042	3	166	0.0181	-1995	c.360 others(19): Show c.3604+2968_3605-1466del		PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADARB2_chr10_1172313_1742525	1238228	CCCCTCTG others(1987): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGC ATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGG TGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTC CCTCTGGCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGG TGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGT TCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0042 a0002c0002t0008g0042	1	106	0.0094	-1994	c.136 others(19): Show c.1361+1909_1361+3902del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
DLGAP2_chr8_732628_1713476	1400411	AGGGTAGT others(1987): Show AGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTC CTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCA TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTG CTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTA CTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATATTGAGTGCTTACTGA GCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT TGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTC CTCCAGAGTCGTGTATTGAGAGCTTACTGAGCACTCCCTCCTTGTCCTCC AAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGCAT TGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCA CCTCCTCATCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCG TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTTCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCGGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGCCTG AGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	-1994	c.107 others(20): Show c.107-100953_107-98960del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EYS_chr6_63714980_65712226	65550134	CTACTATA others(1987): Show CTACTATATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGGGATAAGACCATCTTTATTTCCCAGTCTTTGTCTAGGTTTCTACTA TTCTATTTTCTCCATGCAACATATCTTTGAACAGCTTAGACTGGTCAGAT ATCTGCAAGATTGCTTTTTTTTTTTTTTTTTGCTTCTGAGAGTTGTTTTT TATTTATTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACA TTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCA CCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTC CCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCC TGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATG CGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTC CAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGG CTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCT ATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAG TGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTAT ACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATT TCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG AACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCAC ATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTA ACTGGTGTGAGATGACAAATCATGGGTGAACTCCCATTCACAATTGCTTC AAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACC TCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGACACA AACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGT GAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCA TCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAG TTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCA AAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACA AGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATA GATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAA CTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATT CCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAG CTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATG GATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAA ACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCC AAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCT AATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGA ACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGAC AAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAA AAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGTCATGAACAGACACT TCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCA TCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02451.hp1 HG02451.hp2 others(19): Show HG01169.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0009 a0001c0012 a0002c0008 others(19): Show a0001c0009 a0001c0012 a0002c0008 a0002c0021 a0003c0002 a0003c0019 a0004c0017 a0005c0010 a0006c0022 a0007c0018 a0008c0007 a0009c0006 a0010c0003 a0012c0005 a0013c0020 a0014c0004 a0015c0011 a0016c0014 a0017c0013 a0018c0016 a0019c0023 a0020c0015	a0001c0009t0001 a0001c0012t0002 a0002c0008t0002 others(19): Show a0001c0009t0001 a0001c0012t0002 a0002c0008t0002 a0002c0021t0001 a0003c0002t0002 a0003c0019t0001 a0004c0017t0001 a0005c0010t0001 a0006c0022t0001 a0007c0018t0001 a0008c0007t0001 a0009c0006t0001 a0010c0003t0001 a0012c0005t0001 a0013c0020t0002 a0014c0004t0002 a0015c0011t0002 a0016c0014t0001 a0017c0013t0001 a0018c0016t0001 a0019c0023t0001 a0020c0015t0002	a0001c0009t0001g0012 a0001c0012t0002g0021 a0002c0008t0002g0020 others(19): Show a0001c0009t0001g0012 a0001c0012t0002g0021 a0002c0008t0002g0020 a0002c0021t0001g0008 a0003c0002t0002g0019 a0003c0019t0001g0006 a0004c0017t0001g0002 a0005c0010t0001g0015 a0006c0022t0001g0011 a0007c0018t0001g0007 a0008c0007t0001g0009 a0009c0006t0001g0004 a0010c0003t0001g0016 a0012c0005t0001g0014 a0013c0020t0002g0022 a0014c0004t0002g0024 a0015c0011t0002g0018 a0016c0014t0001g0005 a0017c0013t0001g0017 a0018c0016t0001g0003 a0019c0023t0001g0010 a0020c0015t0002g0023	22	24	0.9167	-1994	c.-33 others(21): Show c.-332-56135_-332-54142del		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42						chr6	TogoVar
CTXND2_chr1_150882136_150918292	150915759	CGGTGAAA others(1986): Show CGGTGAAACCCCATCTCTACTAAAAATACAGAAAATTAGCTGGGCATGGT GGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATGG CATGAACCCAGAGGTGGAGCTTGCAGTGAGCCAAGATCACCCCACTGGTG ACAGAGTGAGATTCCATCTCAAAAAAAAAAAAAAAAAAGGCAAAAAGTTA TTTGATTACTGCCTTGTTTCCCATTCCTTCTTTCCAAAGGTAATCGCTAT AAAGTCCATTTGTGCATATATATATATATATATACACATATATCTATCCA AATATTTTCCTTTCTTTTTAATCTAAACTTTTTGAATAGGCTATCCATTT TCGTGTTTCAAATTTCTTTTTTTTTTGTTTCTTTTTTTTTTTTTTTTGAG TTGGAGTCTTGCTCTGTCGCCCAAGCTGGAGTATAATGGCGCAACCTCGG CTCACTGCAACCACTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCC TCCTAGTAGCTGGGATTACAGGCACCTGCCACCATGGCTGGCTCATTTTT TGTATTTTTAGTAGAAACGGGGTTTTACCATGTTGGCCACGCTGGTCTGG AACTCCTGTCCTCAGGTGATCCACCTGCCTCGGCCTCCCAACGTGCTGGG TCAAATTTCAAAAGGTACAAAATGGTGTACTGTGAAAATTCTTACTCCTC TTCAACCTTCTGTTCTCTCTTCACAAACAACCAATGTTAACAATTTCTTT TTTTTTTTTTTTTGACATGGAGTCTCACTCTGTCACCCAGGCTGGAGTAC AGTGGTGCGATCTCAGCTCACTGCAACCTCAGCCTCCAAGGTTCGAGCAA TTTTCCTGTCTCAGTCTCCCGAGTAGCTGGGACTACAAGTGCCCACCACC ACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGCCAGGCTGGTCTCGAACTCCTGACATCAAATAATCCACCCACCTCAGC CTCCCAAAGTTCTGGGACTACAGGTGTGAACCACTGCACTCGGCCCAACG TTAAAAATTTCTTGTGTATCCTTCCAGGGATATTTTATGTATATGTGAGA AAAAAATATATATTATTACCATTAGTTACACAAATGATGCTGCACTATAT ACCATGTTCTGCACCAATTTTTATTTAATATTGTATCTTGAAGATCATTC CACATCAATACACACACAGCCTCCTTAGCTTCTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCTGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTG AGTAGCTGGTACTATAGACGCCCGCCACCACACCCAGCTAATTTTTTTGT ATTTTTAGTAGAGACAGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTTGTGATCCACCCGCTTCGGCCTCCTGAAGTGCTGGGATTAC AGGCGTGAGCCCGGCCTAGCTTTTTTTTTTTTAAACACGGTTAAAGAGTA TTCTATTGTTTGAGTGTGCCATAATTTAACCAATGCCTGCCAATAGAAAT TTACATTATTTTCAAATCTTCTGCTGTTTCAAATAATTATGCTGAAGAAA ATAATTTAGCACTTAAATCATTTCAAAAGTATGCAAATTCAAAAGTATGT AAAAGCCAGGCACGGTGGCTCCACTGCACTCCACTTGCACCACTGCACTC CAGCCTGGGCAAGAGAGTGAGACTCCGTCTCAAAACAAACAAAGTATGTC ACTTAAAGTCCTAGAAGTTGAATTGTTGATTTAAAGAATATCGCAGGGCT GGCCGGGTGCCGTGGCTCACACCTGTAATATATATATATTGCAGGGCTGG GCAGCAGTTGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGTGG GCGGATCCCTGAAGTTAGGAGTTTGAGACCAGCCTGGCCAACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	372	0.0027	-1993	c.32 others(11): Show c.3278_*5270del		CTXND2	ENSG00000283324.1	transcript	ENST00000636087.1	protein_coding					2468		chr1	TogoVar
BCL2L13_chr22_17633757_17735855	17643915	CTTTTTTA others(1985): Show CTTTTTTATTTTGAGACAGAATCTCACTCTGTTGTCCAGGCTGGAGTGCA GTGGTGCAATCTCGGCTCACTGCAAACTCCGCTTCCTGGGCTCAAGCCTG ATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGAATACAGATGCACACCGC CACACCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGATTTCACCATGT TGGCCAGGCTGGTCTCGAACTCCCGACCTTAGGTGATCTGCCCATCTGGT CTCCCAAAGTGCTAGGATTACAGGCATGAGCAACTTTGCCTGGTCTTTTA ATGTTTAAAATTACAGCTTTTTGATTTGTGATGGATTTATCTGTGAATTT TTATTTTTCTCTTTATAAACTGGGATTATAGTTGTGTTCAACTCTGTATT ACTGGAGCATTTAATAATTCTTTTTTTTTTTTTTTGAGACAGATTCTTGC TCTGTCACAAGGCTGAAGTGCAGTGGCACTATCTCGGCTCACTGCAATCT TTGCCTCCTGGGTTCACGCCATTCTCCTCTCTCAGCCCCCTGAAGTAACT GGGACTACAAGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGT AGAGACAGGGTTTCACCACGTTGGCCAGGATGGTCTCAATCTCTTGACCT CGTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTATAGGTATGAG CCACCACGCCCGACTGCATTTAATAATCTTATAATATTTTAGTGGAAGGA AATTTAGAAACAGGTTTTTGAAATAATTTATTAAAATGTGTTAAACTATA GGGTGTTTTGGTTTTCGTTCTGTGAGGTTAGAGAATACAGTATAAGTGTG ATACTCTAAATTAGTATATCTAATGTGAGTGCTAGGAATTTCTTTTTTTT TTTTTTTTCTTTTTGAGACGGAGTCTTGCTCTGTCATCAGGCTGGAGTGC AGTGGCACAATCTCAGCTCACTGCAACCTCTGACTCCCTGGTTCAAGGGA TTCTCCCACCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACACGCCACC ATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCCTAACCTCGTGATCCACCCACCTCGGCT TCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACACCCAGCCTAGGAA TTTCTTTTTAAATAGGCATCCAAAGTAATTTGATGGGACAAGTTTGGGAA ACAAATACAAAAGACTGTCATGTTGCTGCATATTTGCTTTACATAAGAAC TAATAGTAGGATTTTTTTTTTTTTTTTTTTTTGGAGGCAGAGTCTCACTC TGTCACACAGGCTGGAGTGCAATCTAGGCTCACCGCAACCTCTGCTTTCT CGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GCACACACCATCACGCCTGGCTAATTTTTTTATTTTTAGTAGAGACAGGG TTTCACCATGTTGGCCAGGCTGGTCTCTAACTCCTGGCCTCAAGTAATCC ACCCACCTTGGCTTCCCAAAGTGCTGGGAAGTATAGGCGTGAGCCACCAT GCCTGGTTTATAGTAGGATTTAATAGCTGCTGTGTACCTTCTGATTATGT TTCATAAAATGTGTCTAATTCCTACAATATAATCAGCACTGGTAGCATTC TGGAACTTGGACTGGTACTTGTAATAGAAATCTGGTTTAGAAAAGAAAAT GAACCATATATTGTAGAATTGTGGATATACATTTGTTGTTAAAGGTTCAT GGATGTTTTATTTGTGGCTGGTTTTGGAGATGACACCAAATGAATACATA AACACAGCATGAAGTTAGTCTAGGTTTCCTTAGGCTGTTTGGCTAGCAAC CACAGTTGGCCCTCTTTATCCAGTTTCCATATCTCTGCAGATTCCACCAG TCTTGATTGGAGAATATTTAGGGAAAAAAACACAAATAACAAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02280.hp1 others(2): Show HG01884.hp1 HG02055.hp2 HG02280.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0042 a0001c0002t0012 a0001c0002t0042	a0001c0002t0012g0003 a0001c0002t0012g0004 a0001c0002t0012g0305 others(2): Show a0001c0002t0012g0003 a0001c0002t0012g0004 a0001c0002t0012g0305 a0001c0002t0012g0306 a0001c0002t0042g0005	5	306	0.0163	-1992	c.-51 others(17): Show c.-51+5030_-51+7021del		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6						chr22	TogoVar
FAM162B_chr6_116747197_116770719	116748518	ATTTCTTA others(1985): Show ATTTCTTACCACATCTGCACAGTACTCCATTGTGTGAACCTAGCATTATT TATTCAATCAATCCTCTACTGATGGACAATTAAATTGTTTTCAGTCTTTG CTACTGCAAATAGTATGACAGTGAAAATCACTGTAAACTGTTAGGTCCAT AAACATGCAGTTTTGCTAGAAACTGTCCAATTTCCATCCGCAAGGGTCAT ACTATCTTCTATTCAGAACAGCAACATATAAGAATACCTACCACATCCCA GCCTTGGAAACATAGTATGTTGTTCAGGTCACTTTTTAAAGCAGTTTTAT TTTCATATAATTTCTATATACCACTGTAATTTTTATATACCATAAAGTTC ACCCATTTTATGTGTACATTTTTCTTTGTAAATTTACCCACTTGTGCAGT TGTGCATTACAACAATCCAGTTTTAGAACACTTCCATTAAATCCTCAGTA AATTCTGCTGTGAGCACTTTTAACCAAATACTTGATGTAGACTTATGTGG GGGGGTTAACACAGATGGCATAAAATCTGGTCTCAAAAAACATGTAATAA CAAACATGGTTAAGTGTTCTTAAAGATTTTTTTCCTCTATTTTTTCTTTT TTTAAGATATTAACATGATAGGTTTCTCTCTCTTTTTTACTCTGTCTCTC TTACTGTTCATTTAGATCTCAAGATGATAAGTAAATTTCTCCTCTCTTTG TCTCTCTCTCTCTGGAGCACTGTGATGACTGGTTTTATGTGTAAATTTGG CTAGGCTATCGTACCCAGTTTCCAATTAAACATGAATCTAAATGTTGCTG TGAAAGTATTCTGTAGTTGGGTAAGCATCTATAGTCAGATAAGTCTAATT AAAGGAGGTATCTTTGATAATCTGGGTAGGTGTCATCCAATCAGTTGAAA GGCCTTAATAATAAAACTGAGGTTTCCCTGAGGAAGAAAAAAAGTTGCCT TTGGACTGTAGCTTCAGCTTCTGCCAGAGAATTCTCAGCCTGCTGGCCTG CCCTACAGGTTTCTGATTTGCCAGCCCCTGCAATCAGGTAAGCTAATTCC TATAATCTATCTGTCTGTCTGTCTATCTATCTATCTATCTATCTATCTAT CTATCATCTTTCTATCTTTTACATATACATACATATGTACATGTAAGTAT ACACACACTTTCAATTATCTTAAAAATATGCTACTCCTTAAAAGTCTTTT TACACCTTCAAGATTCCTGAAATTTCTAAATATTATTGAACAGCTCAAAG AGAATATTTATAAGGATGAATATGATATATATTCTACCAGAGAAATAGGA CATTATATCTCCTATTGTTCCATTTGTCTGGTAGAACTCTGATATGTGCA CCCCATCACTACCAAACTCCAGTTCAACCATATGGATAGTGTAACCTTTC TGGGATTCTGCCTTTGTGTTGATGTTCTCTCAGCCTTTACAGGTCTCATG TTTTTGACTATTCTCTCCAGCATATAACCACTTAGGATAACTGGATATGC CCATGGCAAATAGCAGCATCAGATATGCTTATTAACACTCTAGATTTTTA CTTTGTTATCTATGACTATCTATGACAAGGATCTTCCTTCTTTTCCCAAC AGTTTAACCAAGTATTTTAAAAGATGTTTAAAAAAATATTTTGTCCAGAT TATTTAGTCCAATACTAGAAGACTTTCTCTGGACATCTCATCTTCTATGT AACCAGAAATGGAAATCATCATATTCATTCTTATAGATATTCTCTCTGAG TATCTCAATATTTAGAATATTCCAGGAATCCTCAAGGTATAAAAAGACTT TTAAAGAGTAGTATAATTTTAAGATAATTGATTTCCAGTTATTTTAACCC CATATATACTCCCTCCTACAATGTATATGCCCAAGAATGTGGTCTGACGG TTCTCCTTTCTCACCTCTCCTCATAACCAACCTTACACTATTGTGCAAAA AGAGAGCACTTCACTCTCATTCTGAACCTTACTCATGCTGTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	474	0.0021	-1992	c.20 others(11): Show c.2087_*4078del		FAM162B	ENSG00000183807.8	transcript	ENST00000368557.6	protein_coding					3678		chr6	TogoVar
IL31_chr12_122167029_122179221	122167940	TAGTAGCT others(1985): Show TAGTAGCTGAAACTACAGGTGTGCACCACCACACCTGGCTAATTTTTGTA TTTTTTAGTAGAGATGAGGTTTTACCATGTTGGCCAGGCTGGTCTCAACT CCTGACCTCAGGTGATCCACCAGCCTCAGCCTCCCAACGTGCTGGGATTA CAGGTATGAGCCAACACACCTGGCAAAAAAAAATGTTTTAAGTAATTAAA AAAAAAATAGAAGTGGGAAGGCCGGGTGTGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTCAAGGTCAGGAGTTTG AGACCAGCCTGGCCAACCTGGTGAAACCCCATCTCTACTAAAACTATAAA AATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATTGCTAGAACCTGGGACGTGGAGATTGTAATGAGCC GAGATTGCATCATTGCACTCTAACCTGGGCAACAAAGGCAAAACTCTGTC TCAAAAAAAAAAAAAAAGAGGTGGGTTCTCACCATGTTGGGATCTCGCCA TGTTGCCCAGGCTGGTCTCGAGCTGATCACTCAAGTGATCCACCCACCTC AGCCTCCTAAAGGGCTGGGATTACAGGGGTGAGCCACAGCACCTGACCTA TTTTAAGTAATTTTAGATTTATAGAAAATTTATAGACAGTACAGAGAGTT CCTATATACCCTTCACCCAGCTTCCCCTAAGTGGGAATTTGTTAAGTAAC TGTGCACGTTTATAAAAACTAAGCGATTAACACTCATACAATATTAATCA CTAAACTACCAACTGTCTGAATTTTCTCCATTTTTTTCACTAATGTCTGT TTTCTGGTCCAAGAGTCAGTCCAAGTTCCCACATTGTGCTTAGTGCTTGT ATCTCCTTAGTCTTCAATCTGTGACCATTTCTTAGCCTTTCCTTGTTTTT CATGACCCTGACACTTTTGAAGAGTGCCAGTCAAGGATTTTGTGAATTGA CCCTAGGTTGGGCTTGGCAGGTGTTTTCTCCTGATGGGACTGGGATGGTG GTTTTGGAAGATCACAGAGAAGTGAGGGAGGTACCTTCTCATTGTGTCAT GTGAGGGGTGCGTGATACCCAAGCGTGGGCTCACTGGCCAGAGGTGGTGT CTGAGATGCATCTCCCCTGCCACCTTACCGTATTCCCTCTTGTGCTCTGT TCTTTAGAAGGGAGTCACCAAGTCCCACCCGCCTTCAAGATGAGGGAAGT TAAGCCCCACCTCCTGGAGGGAGGAATATCGAAGATTTGTGGACATATGT TAAAGCCACCACCATGGTTTGAAGGGAGATTCTTTGAGGCTATGCAGATT TCCTGTTTCTCCTTAAAGTTTCACCTGCTAACTTCAGCATTCTTCTGTGG ATCCTGCCTGAGGCAGTTATTACTGTGGTGTTCTAATGATGATTTTCTAT TTCCCTCATTCCTTCTATATTTATGATTTATTAATTAGAATTCTAGTTGG GCGCAGTGGCTCATTCCTGTAATTCCAGCACTTTGGGAGGCCGAGACAGG TGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCG CCTGTAGTCCCAGCTATTCTGGAGGCTGAGGCAGTGGAATGGCGTGAACC CGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA GAATTCTATAAGGAACATTTGAACCTTTTCCCTAATTTATTTATCTTGTC AACCATTTATTTTGTTGTTGTTTGTTGTTGTTGTTTTGAAACAAGGTCTC ACTCTGTTGCCCAGGCTGGAGTATAGTGACGCCATCTTGGCTCACTGCAA CCTCCACCTCCTAGGTTCAAGCAAGTGGTACCTCAGCCTCCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-1992	c.24 others(11): Show c.2480_*4471del		IL31	ENSG00000204671.2	transcript	ENST00000377035.2	protein_coding					4088		chr12	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(1985): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02015.hp1 HG02559.hp2 others(1): Show HG00140.hp2 HG02015.hp1 HG02559.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0017 others(1): Show a0002c0002t0001 a0002c0002t0007 a0002c0002t0017 a0002c0002t0043	a0002c0002t0001g0250 a0002c0002t0007g0312 a0002c0002t0017g0261 others(1): Show a0002c0002t0001g0250 a0002c0002t0007g0312 a0002c0002t0017g0261 a0002c0002t0043g0268	4	366	0.0109	-1992	c.462 others(15): Show c.462+36_462+2027del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(1985): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0322 a0001c0001t0024g0322	1	366	0.0027	-1992	c.462 others(16): Show c.462+299_462+2290del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
VPS28_chr8_144418617_144433548	144420175	GTCTCTAC others(1985): Show GTCTCTACTAAAAATAAAAATAATTAGCCGGGTGTGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGAAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGC CAACATAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAATACAAAATTAGC CGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGCGACTCTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCA CCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCCATCTCAAAAAAAA AAAAAAAAAATACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCC CACCTATTCAGGAGGCTGAGGCAGGCGACTCTTGAACCTGGCAGGTGGAG GTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGACAACAAGA GCGAAACTCCGACTCAAACAAACAACAAAATACAAAACTTAAGCCAGGCT GGCGGCATACCCCTGTAGTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAA TCACTTGAACCTGGGAGGTTGAGGCTGCAGTGAGCTGAGATCATGCCACT GCACTCCAGCCTGGGCGACAGAGCCAAACTCTCTCTCAAAAAAAAAAAAG AGAAAGAAAAGAAAGAAGGGTGACTGCCAGGGCTGGGAAGGGGAGAATGT GTGTGAGTGTTTAATGGGGATGGAGCTTTACTTTGTTTGGATGGAAAAGT TCTGGAGGTAGACGGTGGTGAGGTTGTACAATAATGTAAATACACTTAAT GCCCCTGAACTGTGTACTTAAAATCAGTTAAAATGGCAAAATTTGCTATA TTTTATCACAGTAAAAAAAATAAAATAGGCCGGGCACGGTGGTTCACGCC TGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCGAATCACCTGAGGTCA GGATTTGAGACTAGCGTGGCTAACATGGTGGAACCCCGTGTTTACTAAAG ATACAAAAACTAGCCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGT ACTTTGGGAGGCGGAGGCCGGCAGATCACGAGGTCAGGAGATCCAGACCA TCCTGGCTAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTA GCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCAGGGAT GGTGCCACTGCACTCCAGCCTGGGTGGCAGAGAGAGACTCTGTCTCAAAA AAAAAAAAAAAAAAATTGGCTGGGCATGGTGTCTCCCGCCTGTAGTCCCA GCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACCCAGGAGGCGGAG ATTGCAGTGAGCCGAGATCATGCCATTGCACTCTAGCCTGGGCGAAAGAG GGAGACTCCATCTCAAATAAAAAATTTAAAATTAAAATTAAAAAAAAAAA AAAAAAAAACAGGCCGTGTGCGGTGGTTCACACCTGTAATCCCAATACTT TGGGACGCCAAGGCGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCC TGACCAACATGGAGAAACCCTGTTTTTACTAAAAATACACAATTAGCTGG GCATGGTGGCAACACATGTAATCCCAGCTACTCAGGAAGGTAAGGCAGGA GAATTGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACC ATTGCACTCTAGCCTAGGTGACAGAGCGAGAGTCCGTCTCAAAAAAAAAA AAACAAAAATTAAATTTAAAAAAATACATGCCTGGCACCCAGTGGCTCAC ACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGG TTGGGAGTTGGAGACCAGCCTGACCAAACATGGAGAAACCCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01175.hp1 others(9): Show HG00323.hp2 HG01070.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG02055.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG03225.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	12	408	0.0294	-1992	c.16 others(11): Show c.1638_*3629del		VPS28	ENSG00000160948.14	transcript	ENST00000292510.6	protein_coding					3441		chr8	TogoVar
C19orf47_chr19_40314536_40353397	40350282	AACTGCAT others(1983): Show AACTGCATGATCTTGGGCAACTAACTTAACCTCCCAGCGCCTCAGTTACT GCATCTGCAATATGGGAATGAAAACACAAATTAATCATTCTGCACATAAT TCTTAAGCATGTACTATATATGTGCCCAACACTGCTAGACACTGGGGATA CCTCAATGAACAATACAGACAAAAATATCTCGGCCTGGCGCAATGGCTCA CACCTGTAATCCAAGCACTTTGGGAGGTGAAGTGGGTGGATCACCTGAGA CCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAGCCCCATCTCTACT AAAAATGCAAAAATTAGCCAGGCATGGTGGCGCGCCCCTAAAATCTGAGC AACTCGGGAGGCTGAGGTGAGAGGATTGCTTGAACCCAGGAGGCGGAGGC TGCAGTGAGTTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTG AGACCCCATCTCAAAAAAAAAAAAAAAATCTGGCCTTATGGACTGTGTAC TACACTCTAGTGGGGGTAAGAGGCAATGGGTAAATAGGTAAGTAGATTAT TGGATGTATTAGAAGGGGCATGGGGAATGTGGGGTCAAGGTTATAGTTTT AAATAGGGTGGTCAGGGAAAGCTTTCTGAGAAGGTGACATTTGAAACAAA TACTTGAAGGAGAAGAGAGAGTAGGGCTGGGCACGGTGGCTCACGCCTGT GATCACAGCACTTTGGGAGGCTGAGGAAGGTGGATCGCTGGAGCTCAGGA GTTTGAGATCAGCCTGGGCAACATAGCGAAACCCCATCTCTACAAAAATT AGCCAGGTATGGTGGTGTGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GAGGTGGGGGGATCGCTTGAGCCTGGGAGTTCGAGGCTGCAGTGAGCCAT GATTTTGCCAATACACTCCAGCCTGGGCAACAGACGGAGACCCTGTCTCA AAACAAAAAAACAAAACAAAACAAAAAAACGGCCAGGCGTAGTGGCTCAT GCCTATAATCCCAGCACTTTGGGAGGCCAAGGCTGGCAGATCACCTGAGG TCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCTCGTCTCTACT AAAATTACAAAAAATTAGGCAGGCATAGTGGCAGACACCTGTAATCCCAG CTATTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCGGAGG TTGCAGTGAACTGAGATTGCGCCATTGCACTCCAGCCTGGGCGACAGCGA GATTCTGTCTCAAAAAAAGAGAGAGAGAAAGAAAGAGTGACATGGCCCTC TGGGGGAACAGCATGCTGGGCAAAGAGAACAGCAAAAGCAAAAGTCTTGC GGTAGGAGCAAGCTTGGAATATTTAAGGAATAGCAAGGAGGTCAGTGAGA GAGGAGAGGGGCAAGAGACGACATTGGAGGGGTGATGGGGCACATCGTGG AAGGCCTTGTGAGCCATGCAGAAGGCTGGCTTTTACTCCCAGTGAGGTGG GTGCCACAGGAGGATGTGGAGCCGAGGAGGGATGCGGTCCAGTGTGACAT GAAGCCATCACCCTGAGCTGTGGCAGCTCCAGAACTTCTACCCAGGATCG ACTAGTGAGAGGCAGCCTTATTGGAAAGAGAGCCAGAATCTTCTTCAGTC CGCACTCACATATCCTTTATGTTGGGAGAAAGTTTCAAATATCCCTGTCA AAGATCGAGACCGGGCGTGGTGGTTCACGCCTATAATCCCAGCACTTTGG GAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTCGAAACCACCCTG ACCAACATGGTGAAACCTCATCTCTACCAAAATTATATAAAATTAGCTGG GCGTTGTGGCTTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGG AAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACAC CACTTCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	384	0.0026	-1990	c.-39 others(11): Show c.-3982_-1993del		C19orf47	ENSG00000160392.14	transcript	ENST00000683109.1	protein_coding					1886		chr19	TogoVar
FAM149A_chr4_186099704_186180337	186173611	CCTCCCAA others(1983): Show CCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTTCCGCGCCTGGCCAGCT GACTCCATTTCTATAGCAATGAGACACATTAGGCAGCAGCAGCAGCAGCA GCAGCAGCGACCACCAGGTCCATGCCTCTTTTCCGTGGTCACAGCTCCAT GTGTCCGGGGAAGATTGCTAATGCTTAGTTTCCTGCACAAAGCAAACCAA AGCATTTTTGAGAATTTTCTACATTATTCCTAAACATTAGCAATAGAAAC TTTTAAGAGCAAATGCCAGTCTTAATTCAGCAGCTCTCCCACTTGAGGAA TAGTTAGATATGTGAGTAGCCTGGAGCCCATGTTATAGGGCTGCTGGTTA GGTGCTCTCTGGTGCATCATTACTGCTCAAAGCATGACCCACTTGCTCTT TCAGATCCACTCAGGGTATTTTATGTCCATTTCCAGGAACCATCCAACTC CTTCCCTATTCAGTCCAAACTTCCTTTTTTTTTTTTTTTACTTGAAGTTC AGGGGTACATGTGCAGGTTGTTACATAGGTAAACTTGTGTCGTGGGAGTT TGTTGTACAGATTATCACCCAGGTATTAAGCCTAGTATCCATTAGTTATT TTTCCTGATCCTCTCCCTCCTTCCACCCTCCACCCTTTGATAGGCCCTAG TGTGTGCTGTTCCCCTCTGTGTCCATGTGTTCTCATCATTTAGCTCCCAC TTAGAAGTGAGAACGGATGGCATTTGTTTTTCTGTTTCTGCATTAGTTTG CTAAGGATAATGACTTCCAGCTCCAGCCATGCCTCTGCAAAGGACATAAT CTCATTCTTTTTTATGAGCTCAAGCTTCGTAGTAGGGAAAACACCGGATA TTCAGTCTAAACTAACATTAAGGTAGGGTATCCAAGATAAAATGTTTTTT CTTTGAAAACCACTGAATATACTTTATGGTAGCTTTACCTTGTTTGGCTC CAGAGGTTTGCAAATAAGAATCTATTATTTATATATATATATTGGTAAAA GACAAAATATTTTTTAAAAAGTGATCTTGAGTCTTCTAAACATTAAATTG GAAGATAAAGTGCCATTTTAGAGATTACATAGAGACTTGGCCCTGTCATT GATTTTAAAAATGACCTTCTCATTGCACTGATTTTTACTCCATGTTAAAG TTAGTATTTTATTTATACATTAAATTAGATTTAGAGATTAGTAAATAATG CTTATATCAAGGATGGTGCTTTTTAAGCTAATTAGGTAAAAATTAGGGCA GTGTTTTATAATCTACTTTAATAAATGAGTCTTACCTTAGAATTAATCTA TTAAAAATTAAAAAAGAAAAATTGAACTACTTCTGAGATAGATTTTTAAA TTCAGATTAGTGAATTTTACACTAATTGAATTACATTAATTAAAATGCCT GTTAGTTTATCCAAAACCAAAGAAAGAATGAAGAAATTTTAAAACAATCT AAGAAAATGTAAAATACCATAGAAAACTGCTAGATTTTGTGAATTTAATA TAAAAGGAAGTATCCATATTGATATTATTCTGAACTAGATGGAATTTCTA CACCAATTCAGAAGTACGTTTTTATATATCATTTGGATATTATATTTTTT ATTGTTTTATTATAACTACAGATCATTGTGTAGGATTTTTGATTCCTTAA TTTCTAATAAAATATAAAAGTGTTAAAAGAGTTTTCAAAAATGTGTAACA TTTATAAAAGTATTTTTAGATTCCCAATTTTTGTATCATTTGTGCAAATA TCTCTCTATTCTGCAGTTTCTAATACATAGGTATTTATTATTTCTAACTA CATAGTAAACTTTCCCCAGTAAATTCTAAGTATATGTCCATATATATTTG CAAAGGCTTTACATAATTTATGAATACTCCGTTGTAATGTTTGTTTCAGA AGATTATGCTCCTGTGTGGTAATCATCATGGATTTGATTTCATCAAACAT TTATTAAGCACTTTCTTGGTGTAAGATTTTGTTCTAAGCAT	C C	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(92): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01981.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02258.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19068.hp2 NA19077.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0013 a0014 a0018 a0021 a0029	a0001c0001 a0001c0005 a0001c0010 others(11): Show a0001c0001 a0001c0005 a0001c0010 a0001c0014 a0002c0004 a0002c0007 a0004c0003 a0004c0008 a0005c0006 a0013c0027 a0014c0017 a0018c0061 a0021c0046 a0029c0041	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(23): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0077 a0001c0005t0001 a0001c0010t0021 a0001c0010t0064 a0001c0014t0016 a0002c0004t0001 a0002c0004t0010 a0002c0004t0081 a0002c0007t0001 a0002c0007t0011 a0002c0007t0021 a0002c0007t0053 a0004c0003t0006 a0004c0008t0006 a0004c0008t0034 a0005c0006t0001 a0005c0006t0006 a0005c0006t0025 a0013c0027t0065 a0014c0017t0006 a0018c0061t0025 a0021c0046t0016 a0029c0041t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(91): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0234 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0006g0030 a0001c0001t0006g0380 a0001c0001t0010g0333 a0001c0001t0010g0335 a0001c0001t0010g0337 a0001c0001t0010g0360 a0001c0001t0010g0377 a0001c0001t0010g0378 a0001c0001t0077g0083 a0001c0005t0001g0136 a0001c0010t0021g0240 a0001c0010t0021g0241 a0001c0010t0064g0251 a0001c0014t0016g0004 a0001c0014t0016g0010 a0001c0014t0016g0011 a0002c0004t0001g0001 a0002c0004t0001g0120 a0002c0004t0001g0150 a0002c0004t0001g0258 a0002c0004t0001g0310 a0002c0004t0001g0311 a0002c0004t0010g0318 a0002c0004t0010g0350 a0002c0004t0081g0053 a0002c0007t0001g0264 a0002c0007t0011g0239 a0002c0007t0011g0252 a0002c0007t0011g0255 a0002c0007t0011g0262 a0002c0007t0011g0263 a0002c0007t0011g0272 a0002c0007t0011g0274 a0002c0007t0021g0273 a0002c0007t0053g0302 a0004c0003t0006g0218 a0004c0008t0006g0159 a0004c0008t0006g0166 a0004c0008t0006g0189 a0004c0008t0006g0192 a0004c0008t0006g0213 a0004c0008t0006g0215 a0004c0008t0006g0235 a0004c0008t0034g0172 a0004c0008t0034g0175 a0005c0006t0001g0385 a0005c0006t0006g0193 a0005c0006t0006g0194 a0005c0006t0025g0015 a0013c0027t0065g0198 a0014c0017t0006g0191 a0014c0017t0006g0195 a0018c0061t0025g0246 a0021c0046t0016g0003 a0029c0041t0001g0045	95	390	0.2436	-1990	c.16 others(11): Show c.1625_*3614del		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14						chr4	TogoVar
PLD3_chr19_40343695_40383485	40350282	AACTGCAT others(1983): Show AACTGCATGATCTTGGGCAACTAACTTAACCTCCCAGCGCCTCAGTTACT GCATCTGCAATATGGGAATGAAAACACAAATTAATCATTCTGCACATAAT TCTTAAGCATGTACTATATATGTGCCCAACACTGCTAGACACTGGGGATA CCTCAATGAACAATACAGACAAAAATATCTCGGCCTGGCGCAATGGCTCA CACCTGTAATCCAAGCACTTTGGGAGGTGAAGTGGGTGGATCACCTGAGA CCAGGAGTTTGAGACCAGCCTGGACAACATGGTGAAGCCCCATCTCTACT AAAAATGCAAAAATTAGCCAGGCATGGTGGCGCGCCCCTAAAATCTGAGC AACTCGGGAGGCTGAGGTGAGAGGATTGCTTGAACCCAGGAGGCGGAGGC TGCAGTGAGTTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTG AGACCCCATCTCAAAAAAAAAAAAAAAATCTGGCCTTATGGACTGTGTAC TACACTCTAGTGGGGGTAAGAGGCAATGGGTAAATAGGTAAGTAGATTAT TGGATGTATTAGAAGGGGCATGGGGAATGTGGGGTCAAGGTTATAGTTTT AAATAGGGTGGTCAGGGAAAGCTTTCTGAGAAGGTGACATTTGAAACAAA TACTTGAAGGAGAAGAGAGAGTAGGGCTGGGCACGGTGGCTCACGCCTGT GATCACAGCACTTTGGGAGGCTGAGGAAGGTGGATCGCTGGAGCTCAGGA GTTTGAGATCAGCCTGGGCAACATAGCGAAACCCCATCTCTACAAAAATT AGCCAGGTATGGTGGTGTGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGA GAGGTGGGGGGATCGCTTGAGCCTGGGAGTTCGAGGCTGCAGTGAGCCAT GATTTTGCCAATACACTCCAGCCTGGGCAACAGACGGAGACCCTGTCTCA AAACAAAAAAACAAAACAAAACAAAAAAACGGCCAGGCGTAGTGGCTCAT GCCTATAATCCCAGCACTTTGGGAGGCCAAGGCTGGCAGATCACCTGAGG TCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCTCGTCTCTACT AAAATTACAAAAAATTAGGCAGGCATAGTGGCAGACACCTGTAATCCCAG CTATTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCGGAGG TTGCAGTGAACTGAGATTGCGCCATTGCACTCCAGCCTGGGCGACAGCGA GATTCTGTCTCAAAAAAAGAGAGAGAGAAAGAAAGAGTGACATGGCCCTC TGGGGGAACAGCATGCTGGGCAAAGAGAACAGCAAAAGCAAAAGTCTTGC GGTAGGAGCAAGCTTGGAATATTTAAGGAATAGCAAGGAGGTCAGTGAGA GAGGAGAGGGGCAAGAGACGACATTGGAGGGGTGATGGGGCACATCGTGG AAGGCCTTGTGAGCCATGCAGAAGGCTGGCTTTTACTCCCAGTGAGGTGG GTGCCACAGGAGGATGTGGAGCCGAGGAGGGATGCGGTCCAGTGTGACAT GAAGCCATCACCCTGAGCTGTGGCAGCTCCAGAACTTCTACCCAGGATCG ACTAGTGAGAGGCAGCCTTATTGGAAAGAGAGCCAGAATCTTCTTCAGTC CGCACTCACATATCCTTTATGTTGGGAGAAAGTTTCAAATATCCCTGTCA AAGATCGAGACCGGGCGTGGTGGTTCACGCCTATAATCCCAGCACTTTGG GAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTCGAAACCACCCTG ACCAACATGGTGAAACCTCATCTCTACCAAAATTATATAAAATTAGCTGG GCGTTGTGGCTTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGG AAAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACAC CACTTCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	364	0.0028	-1990	c.-27 others(19): Show c.-279+1516_-279+3505del		PLD3	ENSG00000105223.21	transcript	ENST00000409735.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
ADCY8_chr8_130775301_131045909	130838502	GAGAAACT others(1981): Show GAGAAACTCTAAGGCCCTCCAGTTTGACAAAGGCCAAAGAAAGAGGACTA GATCTGAGGGGTCCTGTTTCATTGTTGCCTGTATCACAACAAGGGGCGGT GCATGGCTTTTTGCAAATTATGAATCATTTATTGGATAAAAAGCCATTGA AATGATTGTGTCCTTGGAACAAAAACTTATGTGGTCACAACAGTTAATTT ATAAAATGTAATAAGCATTTATTGAGTGCCTATTACAATCAAGACATGGT GCTAGGCACTGGAAATTCAAAGGAGAGTAAGAGATGGCCCAGGCCTAAAG GAAGTCGTGGTCTAAAATGTAAAGCAGACATAAAAATACAAACAATAATC ATGGTGGAAAGTGCTTTGCCAGCAATGTGACCAAATGCAATGTGGGTACA GAGGAAGGACAAAGCGTTGTGCATTCTGCAGGCACATCTGAAGAAGGCTA TACAGGGGACATGAGTTTGAACTGGACCTTGAAGGACAGAGAGGATTTCA CACAGTAGAAAATGGAAAGGGACGGGCATTTTAGGAAGACAGAATAACAT GAATGCAAAAGTGTAAAGGAACAAGGTGTCAGGAGGATTGATTCCTTAGG TCATATTAGAGAATCATACAACTACTCATAAAGAGAACTAGTAACACAAG CAGAAGAAAAGATTTGAAGGTGTTGCCCTCCTCCTTTCTCTAACAAGGCT GCTGAAGGTATAATAGGCAAATATAATTGTACATTTGCACAATGTGTTGA TGGGTCTTTCTCGTTTTGTTGCCTCAATCAATTGTGGCAGCATGCTCTTG CCTTCTTTACTCCTATCCCCCATTCCATCTAAAGGAATCACCCACTGCCT TGCATGGTTTAGGTAACTTTTTACTTTAAAGTAGAAAGGTGAACCTTTTG GAGGTGATATGAACCGTGGGACATCAAACAGAATGAGGCCCCTGGACAAC ATCAGAGGAATCTCCTCTGTGCTTTTTATACCTTGAGTGAATAGTGGGGG GTGGGACCAGGAAATGGGAGAACAACAGGAAGCTACAGAAGTATTATGGC TTTGTGAAAGCTTTGTGAAAACATTTCTCTTTTGCTGGGTCTGGACCCAT AAATTGCATGTGTCCTGTAACTTGGGAAGAAACTGGGCTCAATGCAATTA CTTAGTTTCTGTCAAAAAACAAGCAATTTTTGTGTTATATTACTCCAGGA ACTTAGAAGGCCCACAGCTCCTAAAGTGTCCCCTAAATGGATCCTGGGTA TAAGGGGCTCATAGGTATAGTAGGACAGAGTTAAGGGGCAAAACCACACT GTAAAAAATCCTCTAGTATGGAAATCTGTACTTTATTCTGCAGTCCGTAA GGAACCACGGATGAGTTTCTTGCTTGTAATGGATTCATTAGGTCAGTGCC TAAGAAATAAATTGCGGTAGGGTAGAATATACGATGTATCAGGATTAATT GAGAAAAGCTGAGGACTTAAAGACAAGATCTTGGCAAATATACCCAATAA ACTTAGCAAGATATAAAAGTTGGACAACATTGTCTAGTTTTATGGGGAGG TAAGAAAGAGAGAGGAGTCAGAGGTAGCACTAATATTTCCACTTTGTATT AATCTATTAAGTAAGAAAAAACTTAAAGTATGAGGAAAAGGCAGTGAGTT CTTTTTTTAGGCCTATCAAGCTTTAGGTATAGAAGGGGTGATTCAGGAAG GATGTTTAGTGAGCAATGACATAAATGAGGCTGGGGTTCAGAAGGCAGAT GGGGTCTGGAGACACACATTTAGCATCATTCAGCTGAACTTACAGGTGTG GAAGAAACCACTCAAGCAGAATACAAGTAAAGACAGAAGATACAGAGACT AACATTGAGAGCCTACCATGTTTGAAGGACTGTGGAAGAAGAGAAATAAG AATATTGATTAGGCATTTTTGGGGATGTGAGGAGGAGAACTAGAAGACAA TAGTGAAGAAACATGTGCCCGAAGAATAAAGAGCTCTAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00639.hp2 others(47): Show HG00140.hp2 HG00423.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01981.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02148.hp2 HG02602.hp1 HG02602.hp2 HG03017.hp2 HG03239.hp1 HG03654.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18939.hp2 NA18942.hp1 NA18949.hp1 NA18950.hp2 NA18955.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18994.hp1 NA19001.hp2 NA19004.hp1 NA19012.hp2 NA19058.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19085.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0019 a0002c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0015 a0001c0003t0001 a0001c0003t0003 a0001c0004t0003 a0001c0019t0004 a0002c0013t0004	a0001c0001t0001g0136 a0001c0001t0003g0041 a0001c0001t0003g0155 others(46): Show a0001c0001t0001g0136 a0001c0001t0003g0041 a0001c0001t0003g0155 a0001c0001t0003g0160 a0001c0001t0004g0001 a0001c0001t0004g0165 a0001c0002t0001g0042 a0001c0002t0001g0121 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0002g0052 a0001c0002t0002g0191 a0001c0002t0003g0019 a0001c0002t0003g0033 a0001c0002t0003g0046 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0122 a0001c0002t0003g0127 a0001c0002t0003g0129 a0001c0002t0003g0135 a0001c0002t0003g0147 a0001c0002t0003g0151 a0001c0002t0003g0157 a0001c0002t0003g0167 a0001c0002t0003g0179 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0004g0028 a0001c0002t0012g0239 a0001c0002t0015g0244 a0001c0003t0001g0065 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0205 a0001c0003t0003g0068 a0001c0003t0003g0200 a0001c0003t0003g0206 a0001c0004t0003g0073 a0001c0019t0004g0236 a0002c0013t0004g0011	50	246	0.2033	-1988	c.250 others(19): Show c.2503-4041_2503-2054del		ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	11/17						chr8	TogoVar
VAPA_chr18_9909016_9965021	9932977	GGGCGCCT others(1980): Show GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAGAATTGCTTA AAACCAGGAAGTGGAGGTTGCAGTGAGCGGAGACTGCACGAGTAAGACTC CGTCTCAAAACAAACAAACAAAAAAAGTGTACCTTAAAAAAAAAAAAAGC CTGGGTGATCTTGATAAGTAATCCTAAGATATTATAATAATTCTGTATCA GTTTTCAAGTCCACAGCAGAATTGGGTACAGAGAGAGAGAACCCAGGGTA GGCTCATTGAGAGAGTATTTAGAGGTGGAGCCTGACTACAAAGGCCATGA AGGACAGACCATAGAGTTCTTGGTGACACTAAATCTTCCCTCAGCAGGTA TAGCCAAAAACCTCAAGAGCTAGGAAAAAGATGTTTTAGTGAGTCTTGCG GTAAGGAGGCCTGGGAGGAGTGCTTTTCATGTTTCTTTGCTAAGTCTAAT TCATCAGTTCCTGGGAAAGAGAGATGGGAAATAAAGATGAAGGAATGCAT GCACTCTGCATGTTGCTGCTTTCTACTACATCTTTAAGCCTTTAGCACAA TTGGAAGAAGAGAGAATTCTTTCTTTTTTGAGACAGTGTCTTGCTTTGTT GCCCAGGTAGGAGAGCAGTGGTGTGATCTCAGGTGACTGCAACTTCCGCC TCCTGGATTCAAGTGATTTTCCTGCCTCAGCCACTTGAGTAGCTAGGATT ACGGGCGTGTGCCAACATGCCTGGCTCATTTTTGTATTTTTAGTAGAGGC AGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTG ATCCATCTACCTTAGCCTCCCCAAATGCTGGGATTACAGGCGTGAGCCAC TGCGCCTGGCCAGAAGATATAATTATTTCAATCCACATGGCTAAAAATAG TTTATTGGTACAAACAGTTATATCCCTAGGAATCCATACAACTATGCAGA ATGACTTTTTCTTTGAGGGGCCTAGATTGCTGGTTTCTGTGTATTAATAT TTCTTGAGAAAACAACGTATCAAAACACTTTCTCCCACAGAAACCTGACT TATTAAAACCTTCAGACAAACTGGTTACTGATTACGCAAACATGCCCTTG GATTGTTCTACTTAATTAGAATTTGGCTTTTCCAGTTTTTAGTGTAGTGT ATTTCCATTTACAGTCACTCAAAGCTATGCTTCTTCCAACAACCTTCTCT GGTTAATTCTCTGTACTACATGCTCATTTCTCTTTTTCCCTGTGTCCTTT TGACGCTTTGTTTTTTGAATTTGCTTCAATTTGTGCACATTTTTATATAT GTTTTCAAGATCGTCTTTGTCTTGTTATGTGGTCTGCAACCTAAATTAGA GTATAACTCCTATAAACTTAACCATGTTGTAAGTTTTCGTTTTATTCACA AATTTTTGGTTCATAGTGATTAGCTTATAATCATTAACTCAGTGAAGGTT GCTAATGGAATTTTATTTAGCTTAAGCTGTATTCTGAGGCATTTTATCCA GTACATTTCCTGCTGCTGTGTATTTGGCCCCTTGAAAAAGTTGTCTTAAC CTTGATAGCAGTTAATGGACTTCTCAGACACACCTTATGAATAAGACTTT ATTACATAATTATTTCTTACATTTATTTACCCGTGTTTATCTTTTTGAAA GTGTAGAGATATATCTTAGAAATAATCTAAAGTTAGGGAAATAATTTCTA TAATGCCATGTACATATTTTGTGTAACTGTTGATTGATTCTTTGTATAGT CTGTTATATTGGACTCATGTTACATAAATTTAGCATGACTTACAACCACA TGGAACCTTAGAAAACTTAAAAGACGAGAAATTATAAATGCTTAAAAATT GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCTT GAGGTCAGGAGATCGAGACCATCCTGGATAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0049 a0001c0001t0008g0050	2	386	0.0052	-1987	c.232 others(17): Show c.232+1038_233-1124del		VAPA	ENSG00000101558.14	transcript	ENST00000400000.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
AHRR_chr5_316714_443285	357348	TGGAGGCC others(1977): Show TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAG AGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGA CACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTG GAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAG CGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCG ACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCC GGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCA CGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGA GGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCG CCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGAC TGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGG GCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACG GAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGG CCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCC CGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTG AGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCG CGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCGT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCA AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAG TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTG GAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAG CGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCG ACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCC GGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGG	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0028 a0003c0004t0028	a0003c0004t0028g0217 a0003c0004t0028g0217	1	268	0.0037	-1984	c.244 others(17): Show c.244+3507_244+5490del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
NCK2_chr2_105739912_105899272	105822290	ATCAGCTT others(1976): Show ATCAGCTTAACAGCTCCTGTGGCTTCCAGCTCCACCCATGGAGGCCCAGG ATGGTGCTCAGAGTCGCCTTGTGTTGGGGATCCCCAGCTTAACATCAGAC CTGCCAAAAGAGAAGTTCTCTGTACAGGCCAGGGGACTTTGTATTTAACA GCCACTTCCTGTGTGCTGAGGCCATCTCTAAGGTCCCTGACGCTTCCCAC AGCGCCCCTGTTCAGGGCGAAACATCATAAAATTGTGATTTAACGTTCTT GCATAGTCAATAACATAATTATTTTCTCTTAGTTGTGGTGGTGATCAAGG TTATGCCAAGCATTTTTTCTTTTCTGTCATAGCTGATACACCCTAGCAGT GTGGCTTCCTAGAAAGCTGAAGAAACAAAAACAAAAAAGCCAATTCTGTA CCCCTCGACCTTCTTTTCCTTAGATAGAAACTGAATACATAACATTCCAT TCATTTTTCAGTGATTCTCTGAATTGTACCTTAGAATTTACAAAGGAATT TTCGTGAATTCTCTTTAATGCCAGGTGATATGGATAGTCCTCCCCTGAAT TGTATAGCAGAAAATGAGCCCAGAGAGGTTACTTTCCTTGCCTAGTACGG CCCAGCGTTGGATGGTGACCTGTGTCTCACACCTGAATGTTGGATTCCAG ATACTCTGTCCTTGTCCTTAAGAGGCCCTGGGCCGGCCGTGTGGCGGATG TGTATGTAAGAGAACAGCATTAAATAAACAGGCCACACAGAGCTTGAAAT GAGCGCATTGCTGCAGTTGAGGTTCTCAAACTAGGAAAAGCAGAGAGAAA TTTTTCTTGACTTCCTCCAGAAAAACAAAAAGTCCTCTCATGCTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCACAATGGAGGGGGTG TTGTAGGGCTTTTAGTAAACTGGACCTTGAACAGGTAATTACAAACAAGC CCCAGTAGGAGAATACTTTCTGGGATTACCACTGGGATGTACAGAACTGA AGGGAACACGTGGAACTGCAGAAGTGTCATTCAAGTTGGGCGTGTCTGGT GGAGGGTGTGGGAGGGGAGTGTGTCCCAGTGCCCTTGTGCTCCCCATTCC CGTGCTGCAGGTGCCTCACTGGACACACCAAAAGCATTTTGAGTTTGAGA TTTCTGCCTATCAGAATCAATTTTCCGGTTGACTTTTATTATAACTAACG TTGAAATGGTTTCTTTAGAAATGTTCCTGGCTCCAGGATGTCAAAATGGT TATAAAACATGATGAATAAATCAGATCATAAGAGGTCACAGTTTATGGGG AATGAATTCTGGGACCATGTTAACAAAGAGTATATTAACAAGATGCCAGT TTTGGATGGAAACGAATAACCCTTAGTGCTTGTTGGGGCAGAAGGTACCC AGGCCTTCCTGTAAGGTCCGTGGCCATGGAGGCAGGCCTTGTATCTCCCT GGAAAGTAAAATATGCCTTCTCAGCTTCTCAGAGTCACACCTGACCAACA GTCACACTGACAAGTTAATTGGTGAGATTTGAGCTTGATTGCTGCCTGCA AGCAGTAAGGATGATCCTAATTATGAATCTGCTCTGGCTGTTTCGTGATC AAACGCCTTGTTCCGTGACCTTCCCGTGTGAAGGTCTACCCAGGTCACAG TGTGAACAACCCATGGTCCGGAGCAGTCCCTGGCCGGCGTGAACTCCAAG TCAGGAGTCTGCAGTGGTGACGTCCCTCTTGAGTGTCCTCAGGTAGGCTC TCCCTTACAGGGATGTGGCCAGGGACAGGGAGAGGCTCTAGAGTTGACGT TTTTAGTAGTTTTTCTAAATTGTTTATCTTTTTTGCCAACATTCCATTTT GGGTTTTGCTTGTGATTGTTACCTTATTTCACATGTGTGAGTGCCCCCTC CCTTTATTGACCACATAGCAGAATGCCCCGTCCGTAAATGTCACGTTTCC ATAGAGTACTGCTTTCCACTTGGGCCCCTGACGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG02976.hp2 HG02723.hp1 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0323 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0323	3	334	0.0090	-1983	c.-17 others(17): Show c.-17+5679_-17+7661del		NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
EXOC4_chr7_133248078_134070761	133422573	AAACTGCA others(1974): Show AAACTGCATGAAGCTGATTTTAGAACCACATTTTCTTAAAATGGAGGTTA TGTAGGTTACATGTTTTACTGGCTCATGGAGCTCTTCAAAATGACCCAGT TCAGAATGACATTCAACTTAGAGCTGATTGAAATGGGCATTGGTGGAAAA TCCCTTGGGGATTTGTGGAGCAATTAAAAATAACCTAGGAATCTAATTCT TTTTAATAATAGAAAAAAAATCTGTAGTTAGAATTTTAGAGAAGTATGTG AAAGTTTTATCTTACTACAGAAATTATGGGAAATGCTTACTTTTTAAAAG GAGAAAGGGAAAGAATCTCATGTTGAAAATTGTCATTAGGTAAAGTAATA GAATTAATGGAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGG CAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCCAAAAAAAAAAAAAAAAAAAAAAAAAATAGAATTAATGGAGCAATCC AAAATGAGCTAAATAAGTTTCTTTGTGAGAATTCTTCTAGAGATTAATTC TAGAATTCTTCTAGAGACTTCATAATATATGGTAAAACTAATATTGCTGC TTAGATATTCTGTGTCGTCTTTTGTCCTCACTTTAGGTAAGCAATATGTA CGCCATAGCACTCTCTATCTTACTTTACATCACTTTGCTCATTTGGTGAT TGTGTAGGTGTGAGTATGTGCATGTGTGTAGACTTTTGTCAGTTTCCTTC CTGCTAAATTTTAAGCTCATTGAAAGTAAGAACCATGTGATTAGCTTATT ATTATTATGTACCCTGTACCTAGTGCTGTTCTTGGACATAATAGTGAGAG GTGACAACGTGCTAGCAGCCCTCGGTCGCTCTCTGTGCCTCCTCAGCCTT GGCATCCGCTCTGGGCCCTCTTTGGGGCTGGCAGAGGCTGAAGCCGGCTT CCTCTGCTCGTGGGGAGGTGTGGAGGGAGAGGCGCGGGTAGGGGCCAGCG CTGCGCGCAGGCCTTGTGGCCGGCACGGGATCTGGGTGGGCACGAGCTCG GAGGGCCCGCACTTGGCACAGCCAGCTGGCGCCTGCTGGACTTGATAGGG GGACGAGCTCCCTCTGGGCTGCGGAGTGCCTGGGCTAGGTGCCGCAAAGT CCTGTGGCGAGTGCTAGCGAGAGGTGAAGCCGGCTGGGCTTCTGGGACAG GTGGGGACTTGGAGAACTTTTCTGTCTAGCTACAGGATTGTAAATGCACC AATCAGCACTCTGTCAAAATGGACCAGTCAGCTCTCTGTAAAATGGACCA ATCAGCTCTCTGTAAAATGGACCAATCAGTAGGATGTGGGTGGGGCCAGA TTAGGGAATAAAAGCAGGCCACCCGAGCCAACAGCAACCTGGTGGGGTCA CCTTCCACGCTCTGGTAGCTTTCTCTTTGTAATAAATTTTGCTGCTGCTC ACTCTTTGGGTGCCTGCCGCCTTTATGAGCTGTAACACTCTTATGAGCTG TAACACTCACTGTGAAGTTGTGCACCTTCACTCCTGAGGCCAGCGAGACC ACGAACCCACCAGAAGGAATGAACAACTCCAGACGCGCCGCCTTTAAGAG CTGTAACACTCACCGCGAAGGTCTGCAGCCTCACTCTGAAGTCAGCGAGA CCACGAACCCACCAAGAAACTCCGGACACATCTGAACATCTGAAGCAACA AACTCCGGACACACCATCTTTAAGAACTGTAACACTCACCGTGAGGGTCC GTGGCTTCATTCTTGAAGTCAGCAAGACCAAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0082 a0001c0004t0004g0082	1	102	0.0098	-1981	c.118 others(21): Show c.1182+47575_1182+49555del		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
AHNAK2_chr14_104932253_104983374	104944681	TGCCTTGG others(1973): Show TGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGG GGCCCTTGAGGTCCACTTTGGGCGTCTTTAAACTGGGCATCTCCACTTTG GGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCCAGGAG TTCCACATCCACTTGGACAGCCTGGACCTCCAGGTCAGCGGAAGGGGGCT GAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGAGAGGCTC ACGTCGGCCTCCACCTTCGGCGCAGACACATCCAGCGAGGCCTCGATGGA CCTGCCTGGGGCCGACACCCCGAAGGAGGGCATCTTGAACTTGGGCATTT TGAACTTGCTGTCTTTGGCAGTCACATCCTTTTCAGCCAGGGACAGGTCC CCCTCCAGCCGCGCACCATCCAGCTTGGCTCTCGGGGCCTGGACGTCCAC CTCCACGCTGGGCAGAGACACCTCCACATCAGGGACTGTCACTTCCGCCT TGGGGACTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCTC TTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAG GTGCCCTTTGAGGCCAGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCA CGTCCACCTGGCCAGCCTGGACCTCCAGGTCCACAGAAGGGAGCTGAATG CTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTC GGCCTCCGCCTTCGGCGCAGACACATCCACCGAGGCCTGGATGGACTTGC CTGGGGCAGACGCCCTGTACGACGGCATCTTGAATTTGGGCATTTTGAAC TTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTC CAGCCGTGCACCATCCAACTTGGCTCCTGGGGCCTCGACGTCCACCTCCA TGCTGGGCTGAGACACCTCCACGTCGGGGGCCGTCACATCCATCTTCGGG CCTTTCAGGTCCAGCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGCG ATCTACTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCC CTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGTCC ACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGAT GTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCAGGTCGGCCT CCACCTTTGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTGGG GCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCT GTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCC GTGCACCATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCG GGCTGAGACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTT CAGGTCCAGCTTGGGGCCCTTGACATCTATCTGGGGTCCCTTGCGATCTA CTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTG AGGCCAGCTCCCTCGGGAACGTGGCCCTCTGGGAGCTTCAGGTCCACCTG GCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAG TGGTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACC TTCGGCGCAGACACATCCACCGAGACCTCAATGGACTTGCCTGGGGCAGA CACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTT TGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGTGCA CCATCCAGCTTTGCTCTCGGGGCCTCGACGTCCACCTCCACGCTGGGCAG AGACACCTCCACGTCGGGGGCCGTCACCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02273.hp2 HG02273.hp2	a0170 a0170	a0170c0105 a0170c0105	a0170c0105t0002 a0170c0105t0002	a0170c0105t0002g0076 a0170c0105t0002g0076	1	356	0.0028	-1980	c.879 others(10): Show c.8790_10769del	p.Glu others(15): Show p.Glu2931_Ala3590del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	10906/18335	8790/17388	2930/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948404	CTCCACCT others(1973): Show CTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTTGCCAA GGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGAACTTG CTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCCTCCAG CCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTCCACGC TGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCT TTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAGGTC CACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTT TGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCCACC TGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAGGTC AGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCA CCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCA GACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTC TTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCG CACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGC AGAGACACCTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAG GTCCAGTTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTT TGGGCATCTTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGG CCAGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCC AGTCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGG TCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTG GGTGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATAC CCCGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCA TCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGA CACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGC ATCTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGC TCCCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCT GGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTG AGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCGC AGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGA ACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAG CTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCT CCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTT CAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCT CGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACC TCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTC CCCCTGCATGGAGGGGAGGCTCACATCAGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00099.hp2	a0120 a0120	a0120c0214 a0120c0214	a0120c0214t0002 a0120c0214t0002	a0120c0214t0002g0062 a0120c0214t0002g0062	1	356	0.0028	-1980	c.506 others(9): Show c.5067_7046del	p.Ala others(15): Show p.Ala1690_Glu2349del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7183/18335	5067/17388	1689/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950587	ACAGAGAC others(1973): Show ACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTC AGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCAC TTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGA GGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGG CCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGT GGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCT TCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCAGAC ACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTT GGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCAC CATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGA GAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTC CAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGG GCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCG GCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGC CTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCT TGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGT GCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCC GAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAG TCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCC AACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACAC AGCCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCT TGGGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATC TTCAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCC CTCAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGA CCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGG TCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGA CACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACG ATGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACA TCCTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGCTT GGCTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCA CATCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGGGG CCCTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTGAA ACTGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTCGG GCAGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCTTC AGGTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCC CTGCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACACAT CCACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCGAACGACGGC ATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTT GTCGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCCT TCTGGGCCTGGACATCCACCTCCATGCTGGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0051 a0051	a0051c0051 a0051c0051	a0051c0051t0001 a0051c0051t0001	a0051c0051t0001g0024 a0051c0051t0001g0024	2	356	0.0056	-1980	c.288 others(9): Show c.2884_4863del	p.Pro others(14): Show p.Pro962_Leu1621del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5000/18335	2884/17388	962/5795			chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950828	CAGGTCAG others(1973): Show CAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGG CCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCT GGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTT GCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCA GCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACG CTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTC TTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGT CCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCT TTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAA TTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGT CAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCC ACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGC AGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGT CTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGT GCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGG CAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCA GGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACT TTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAA GCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGC CAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTG GTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTT GGGTGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACG CCCCGAACGATGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTG GCAGTCACATCCTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACT GTCCAGCTTGGCTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAG ACACCTCCACATCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCC AGCTTGGGGCCCTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGG CATCTTGAAACTGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAG CTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCC TGGACCTTCAGGTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTT CAGGTCCCCCTGCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTG CAGACACATCCACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCG AACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT CACGTCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCA GCTTGGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACC TCGCCATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTT GGGGCCCTTAACATCTATCTGGGGGCCCTTGAGGTCCACTTTGGGCATCT TGAAACTGGGCATCTCCACTTTGGGCAGGTGCACTTTGGGGCCGGCTCCC TCGGGCACAGGGCCCTCCGGAAGTTTCACATCCACTTGGCCAGCCTGGAC CTCCAGGTCAGCGGAAGGGGGCTGAATGCTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03942.hp2 HG03942.hp2	a0065 a0065	a0065c0203 a0065c0203	a0065c0203t0002 a0065c0203t0002	a0065c0203t0002g0201 a0065c0203t0002g0201	1	356	0.0028	-1980	c.264 others(9): Show c.2643_4622del	p.Ser others(14): Show p.Ser882_Leu1541del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4759/18335	2643/17388	881/5795			chr14	TogoVar
ASMT_chrX_1610059_1648081	1639631	AGATAGGG others(1972): Show AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTC TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCT GATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATG TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCATGTCCCA GTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGATGTGGACACA GCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCTGTGAGGTCCA TCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTGTGTGTGTGTT GGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	223	0.0045	-1979	c.910 others(17): Show c.910+3075_911-1190del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
MFGE8_chr15_88893683_88918379	88916401	TTGCTTGA others(1971): Show TTGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCAAGATCGCGCCATT GCACTCCAGCCTGGGCAACAAAAGCGAAACTCCATCTCAAAAAAAAAAAA AAAAAAACAACCCTAAAGAATCCACATACACACACACACACACACACAAA CACACAACTATTAAAGATAATAAATGAGCTAAGCAAGGTTGCAGGATACA CAATTAATATACAAAAATCAGTTGTATTTCTTACACTAGAAATAAACAAT CCAAAAACATAATTTTTAAAAATCCCATTTACAATAGGATTAAAAAGAAT AAAATACTTAGGAATAAATTTAACAAAAGAAATACAAGACATGGCGGGGC ACGGTGGTTCATGCCTGTTATCCCAGCACTTTGGGAGGCCAAGGTGGGTG GATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCGAAAC CCTGTCCCTACTAAAAATACAAAAAGTAGCCAGGTGTGGTGGCTGGCACC TGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCTG AGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTG GGTGACAGAGAGAGACTTCGTCTCAAAAAAAAAAAAGAAAAAGAAATACA AGTACGTTGAACACTACAAAACATCATCAAAAAAATTAAAGAAGATCTAA ACAAATGGAAAATTATCCCCTGTTGATAGGTTGGAAGACTTGTATTGTTA AGATGCCAGTACACCCCCAAATTGATGTACAGACTCAATACAATCTCTGT CAAAATTCCATCTGCCCTTTTTGCGGAAATTGACAAGTTGATACTAAAAT TCATACGGAGGCCTGGCGCAGTGGCTCATGCTTGTAATCCCAGCACTTTG GGAGGCCAATGCGGGAGGATCACAAGGTCAGGAGATCGAGTCCATCCTGG CTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG TGTGGTGGTGGCCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAACCTGGGAGGCAGAGCTTTCAATGAACCGAGATCACACC ACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAATCACACGGAAATGCAAGGGACCCAGAATAGCCAAAACAATC TTGAGGAAAAAAAAAGAACAACATTGAAAGACTAACATTTCTCAATTCCA AAACTTACTACAAAGCTATAATAATCAAGTCTTCTAATTAGAATTTACTG TTCCCAACCTGTCTCTCTTAAATTTGCAGTCTCTCCTATAGTTCTTATCA AACTTTGCCTCATATTGGAATGATGGTCGCAATACCTGTCACTCGATTGT AAGTCCTGGTATATGGAATAATGTCATATGTATTCTTGTCACCCTAGCCC AGCACCTTTTATGTAGAAAGAGATCCATCAGCAGTGTTACTTTCAGTCGC CTCCCTGTGACCAAGCCTTCTCCCAGAGAAGGAAGCTGCCCTGCTCAGGG ACATATGACCCATCCCCAAACCACAGGCTCCCTCATGGTCTTCAGGGTTG AGCCAAGAAGGCTCACCAGTCACCCTCTGGGGTTAAATTAATGATACATA CATAGTAAACAAATAAAAACACTGGTAAAGCCAGGTGCGATGGCTCACGC CTGTAATCCCAGCACTTTGGGAAGGTAAAACACCATCTCAAAAAACAAAC AAACAAAAAATTATGCTAAGTGAAAGAAGCCAGTCACAAAGACCATGTTG TGTATTACTCCTTTTCTATGAAATGTCCAGAAAAGGCAAATCTATAGAGA CCAATGTTAGATAAGCAGTTGCCAGGGGCTGGGGTGAGGGGAGAATGAGG AATACTGTTCGTAGATACAGAGTTCCTTTTGGGGGATGATGAAGATGTTT TGAACTTAGTGATAATGGTTGTATGACCT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG03486.hp1 HG02451.hp2 HG02572.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0001 a0001c0002t0005 a0001c0003t0001	a0001c0002t0005g0056 a0001c0003t0001g0163 a0001c0002t0005g0056 a0001c0003t0001g0163	3	436	0.0069	-1978	c.-50 others(11): Show c.-5060_-3083del		MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding					3023		chr15	TogoVar
RIN3_chr14_92508781_92693994	92646634	TTCACCAT others(1971): Show TTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCG GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCT CCCGGCCATGTGTGTTTGTTTTTAACTGACAAGACCAGAAAAGGCTGAGG ATGAAAACCACATATAATCTCACCCCTGCTGCAAGTTCAGGGTGTGTTTC CTTCCAGTTTCTTTTCCTTAATACACCTAGACGCAACTGAAAATACAGTT TTGGTTTCTTGCCTTCTGATTTTGTGCGAATATATTTGTGACTTTCAGTT TTTTCCCTAGAGCCCAGAGCCAAGGAATGTCTAGTTAAGGCTAAAGATTT ACTGGGTTTCCAGTCCGCTGGATGATCTTGTAGTTACAGGAAGTTCATGA GGCATATATGTTTCTTATCATTAGTGTCATCAGTTTTATTTGTTTGGCAT GCCACTCATTTTCCTATGAGAAGAATGCAACAAATGTCCAAAGAGTTGCA CCAGGCCTGCTTTTGAGATAGGGATGATGTTGCTGAAACTCAGCTATTGA CTTGCAGGCTGAGTGCCATGTGATGGCTCACAGTGTGCCTTCATGAGCCG ACGTAAGAAAGTCCAAATTCGGACTTGGAAAAGCCAGCGTTCGAAAGTGC AGGCTATATAAGGTGTAATCTTGGACTTTAAGAGCTTACCAGTTAGTCAA GGCCAGAAAACTAACATAAGGAGGAGCAATTCAGCCCTCAACTATATTCA GCAGTTGATTACAAGCGTCCAAGGAATTTAGAGAATAGGGATTACTCGCA GTGGTTTTCAAACATGTTACAGTGTGTATGTGTTTAATACTTCAAAAATA TGTTTAGGAAAGGCATCTGTTCTGTGGCTCTTCCAAGTTTGCTTGTAACT TGCTTTTTCCTTTACATCAGATGATGAGCATTTTCCTAGTTATTAATAAT TCATTGAAAACTTGACTTTGACTGACTGTGTAACAGCCTCTGTCTTTGGG ATGCCACATGAATATTTATTCACTGGCCTTGTTGGATTTTTTAGTGTTTC CGTGGCATCTGGAACACTTTGCCTTTACTCATCCCCTTCCTGTCCTGCCA CCAGCCCCAAGCTCCCCAGGGGTAGAGTCTGAGTTTGCCCTCAGGACCTA CAGCCCAGCCTGTGATGTGGCCCAGGTTCTCTGAGGGTAGAAAGAGTGGG CATCTGGCAAGAGGTGTCCCCAGCCAACGCTCAACAGGCCTTGGGGCCAG CAAAATCGTGGCCTCAGTCTGAGGCCAGGGCAAGGATGGGCCCTTCTTTA GGGGAACTCTCGCAGCAGAGCCAAGGCTCAGTATGGTGCCTTTGGGGACT GGACCCCACAGCTTTGCCAACCAAACCACTAGGATTGCATGACACAGGGT TCTGTTTCTCCCCTGGCCTTGGCGTTCTCAGGCTGCAGAGAAAGTTACTC ATTTCCCTTTTTTTTTTTTTTTTGGAGCATAAAGCCCTGCAATGCCACTG TGGTTCCCTAACAGGTCCCAAGACCCCAGGATGCAGCCCATTAGCTCCTG GCTTCCCCCACTCCTTGGAGTCACATTGGCTTTGAGAACTTTGCCCTGCC AGGGTTTGCCAGGGTGCAAACCCCAGGCCTGTCTTGGGGCAGGGAAGCTG TGTCCCAGGTACCCAGGCCGAGAGCCTATTTGCCTGAACCCGTGTCTGCT CTGTTCCTGCCAAAATCCACACCTGAGCAATGGGAAATGTTGTCTTCTGT TCTGTGCCTAATGGAGCCATCCTGTCCCGTGGCAGGCTGCCCGGCTGGTG GCCCATCCGTTTACGGGGCTCCTGTGCCCTCCTTCCTGCCTCCTCTCACT GTCTTGTATTTACACATCCTCCCATGGTTCAGGTTGTCCCCATCTTGCCC TTGAAACTAACCTTGCCTGTGTCCCCTTCCTCAGAGGCCTGACTCTCCAC TCCGGCTAAGCTAATCCACTCATGGGTGC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0059 a0005c0059	a0005c0059t0001 a0005c0059t0001	a0005c0059t0001g0115 a0005c0059t0001g0115	1	334	0.0030	-1978	c.533 others(17): Show c.533-4947_533-2970del		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	5/9						chr14	TogoVar
SLC15A4_chr12_128788194_128828958	128817903	TGAGCTGC others(1971): Show TGAGCTGCAGCTACGTGCCCTACCAAGGGTAAACAAGGTTTTCACATGAC TGGCCAAAAGATACCACCAAAATCAATTTGGAGAAGAAAAGCTAAAAGAA TAGAATTGTGTACAGCATACCAAACAGTTGGCTGACAGAAGAATTCCTTA AAATGGGGTGTCAGTTTTTCCTCTAGAAAAAAAAAAAATGCATCATTTGC TCTTTTCATCTGTAACATAAGATTTTCGTCTTTCAGGTCACTATTTCAAA TAATCCATCCACCAAGAACGATTGTGACCTTTGAAAAAGGTGAAACACTG GGGGAAGATACGGCCTGACATGATTTACACGAACATACGTCTCCCTTGGA CTCACAGCTCACACATCCTCTTTCAGAAGCCAACTAGGCCTCCTTCTCAA AGCTATGCAGCCTCACCCCATTGTCTCTCCTATCAGAATGTTTCCCAGAG GCTCTACCTGGGAGATGAAGAGGTAAGTGACAAAGAACCATAAAAAGCAC CTTAAAAATACAAACAGGTTTCCTCTAAATGAAAAGGACCAAACCAGGAC AAATTAACCCTCGCCTGGGGCACAACAGAGTGTACTTCAGGCCTGCACAC CTCAGGGTCCCCAGCCAGGCCTCCTGCCATGAAGCAGCCGCACCTGGAGG GGGACCTGCCACCTGGTCACGGGCAAGCACCCTGGCATAAGGGTACTTTT CCCTTCAAATGTTTTTTCACTATGATTCACATACCATAAAATTCACCCTT CAAAAGTGTACAATTCAGTAGTGTCTAGTATATTCAGAGATGTACAGCCA TCACTGCCATCCAAGTCCACATTCTCATCACACCAACAGGAACTCCTGTT CCCTTTAAGTCAGTCCCACGCCCCTCTCCTGGCCCGTGGCAACCCTTAAT CTACTTCCAGTCTCTGTGGACTCGCCTCTTCCGGGCATTCCACATCAATG GAATCACACAACTGGGGCCTTATGTGTCTGGCTTCCTTCATGCAGCCGAA TGTTTTCAAGGCTCATCAGTACTTCATTTCTTTTTTAATGGCTGAAAAAT ATGCCATTGTATGGATATACTATATTTAGTTTATACATTCATCAGTGAAC ATTTTCTTATCTTTCATTTAAAAAAATTCCAAATGTATAGAAAAGTTGAA TTGCAAAATGCACACCTCTCTACCCTTCACTTGGAGCCTCAGCACTTTTT TCTATACATAAAAAATACTGGCCGAGCGCGGTGGCTCACGCCTGTAATCC CAGAACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCG AGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAA AATTAGCCAGGCGTGGTGGCTCACACCTGTAGTCCCAGCTACTCAGGAGG CTGAGGCAGGAAAATAGCTTGAACCAGGAGGCAGAGGTTGCAGTGAGCTG AGATCATACCGCTGCACCCCAGCCTGGACAAGAGAATAAGACTTGGTCTT AAAAAAAAATACTTCTGGGTGATCTACATACAAATAAGCTCCAGCAACCA ATTTCACCCCCAAAATTTCATCATGAATCTCCTGGAAATAAGGACATTCT TTTAACGGCAGTGAAATTACCACACCTAAGAAAGGCAACATTGGTCCATT ATTAGCTAATAGGCGGTCTACAAACTATCCCAAGCATCCAAGAAGAACGG CCATGAAAGCAGCTGGGATCCAATCACTCAGCACGCGCTGCAGGGGGCGG CCAGGTCTCCCGAGTAGCCTTTCATCCACAAGGTCCTCTTTTAACATGAC AGCATTACGTCGGAAGAGATCAGGCCAGCTATCTTTCGGAAGAAGGCACA TCTCCTTTCAACATCCACATTTAATTATGGATGAAAGAGCGCATATTCTG TCAGATTCATCTGAGATAACCGAGCACCATTTCCTCCTCATTTTAAGAAG TATCAATTACTCGCCTGTTATATCCTGGA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	418	0.0024	-1978	c.546 others(17): Show c.546+3517_547-2834del		SLC15A4	ENSG00000139370.12	transcript	ENST00000266771.10	protein_coding	1/7						chr12	TogoVar
C2orf73_chr2_54325884_54366581	54338356	GCTCAGGA others(1970): Show GCTCAGGAGTTCAAAGCTGCAGTGAGCAATGATTGTGCCACTGTGCTCCA GCCTGTGCAACAGAGCAAGACCCCATCTCTAAAAACAAATTTTAAAATAA TAAAATAAAAACCAAAAACAATGAACTTAAATGTACTCATTTCTAACTAT CCAAGAAATAATAAAGAATGTATATTTCACATATTTGTAAACTGTTCCTT TAAGATGACAGGTTTCTTTTTAAAGGTTAGCCTGGTTAAGAAAAAAACTG GTTGACGGTAATGCTGTCTTTATAATAAGAGTAAAGAAAATAAACTTGCC TAAATATTTTAAATGACACCTGTTGTTTTAAGTGTTTTTGCTAAGATAAT ATCTTTAGGATGCAAGACGAGATTGGTTGGTTTTATTTGTTTAGAAGATT TTTAAGATTTCGTACATTTCTACCTAGGAACATAAAATTGGGGATGCTAA AAAAAGTAAGTTGTTTTAGCTCAGTCACTTCCAAAGAAAACTGGTTTGAT TGTCTTATATTTTTGGCTGGGTGCGGTGGCTCATGCCTGCTATCCCAGCA CTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCAGGAGTTCGAGACCAG CCTGGCCAACATGGTGAGACCCCCCCCCATCTCTACTAAAAATACAAAAA ATTAGATGGGCATGGCGGTGCGTGCCTGTAGTCCTAGCTATTTGGGAGGC TGAGGCAGGAGAATTGCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCA AGATCGTGCCACTGGACTCCAGCCTGGCAACAGAACAAGACTCCATCTCA AGAAAAAATAAAATAAAATAAAATAAAAATATTTTTAAATATTGGTACTT TAAAGGAGATTATACTAGGTTGGTATTTTCAAAAGTTTAATTTTCAGAGC ACTGACCCTTGCCTACATGCTTAACAAAATAAATTTGCAAAGTCAAATAT GTTTTGGAAAAGCTGTATTTTTATAAACCTTTCTCAGAGCTTCACAATTC ACATTGGTATATAAAGGTTCTGAGAAATCTTGTGATAAACTTATTTAACT TTGCTTTTCTCACTATTTCCCAAAGTCATTTAACTGTGGACTCCTTTGTA TAACACCTATTAATATGCTGGAGAACTAGTGTTCCACAGAACACAATTTT GGAATTTTTTATGGGGGGGTGCATTATGAACTGCTTAAAAACATTTTTTT AAAGCACTCATAGCATCTATAGCAAAATAGAGATGAATTTAGGTACAGTG TAACCAATGTGACCTTAGCTGCCCTAGTGTTTGTGATAGTACTTCAATTT TTTAAAGCCACTGAGCTCTACCAACAAAATGCGATTGTTTATGTTTAGGT TTTGTCAAAAGCCCACATTTCCTTGGGAATCCACAAAGTATGATTTTATG TTCCACAGATGACCACCACCAGCCATCTTGGCTACGCGATTGTGGCTGTG GAGCTTGGCTTACGACCTCTTGCATTCACTTAACTAGTTCCTCTAGGATA CTTCACTTGCTTTTTACTACTTCTCCTCTGAGGATTCTCCCTTAATTTCT CAAAGAATGGAAAATAGGTAATCTTTACTAAAACATCTCTGAGAGCTTAG GGATACTAGGAGTATAACATAGAGACTGCCTTACACTGGCTTCCAAATGT GACTAAGGGACCCACAGTGCAACAGCCCTTGGCCTTCCCAGAGCTGCAGG TTAGAAGGAGCCCCGTCATCCGGAATCTCCAGGCAACTCCTGACCATGGA ACCCAGTGACTATCATCCTGGGGCAGGAAAGAAGACAGTCCTTAGACTGG TAGGGATAACTCCTCTCTGGGTCCAAAGTTTGAGTTAGGCAAAACCCCCT CTACAATCTGCAAGATATGATCTGTTCCCCAGAGCCTAGACAAAGCCATC ACGCTAGGTAACTTCCCAGCTTATTTTGTCATAAATAACTGTGTTAACCC CCCACAATCCAATGTAAGTGATGGTACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(214): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0012	a0001c0001 a0002c0002 a0002c0005 others(8): Show a0001c0001 a0002c0002 a0002c0005 a0002c0008 a0003c0003 a0004c0004 a0006c0007 a0007c0011 a0008c0009 a0010c0014 a0012c0013	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(14): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0002c0002t0001 a0002c0002t0002 a0002c0005t0010 a0002c0008t0002 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0004c0004t0001 a0004c0004t0005 a0006c0007t0001 a0007c0011t0001 a0008c0009t0004 a0010c0014t0001 a0012c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(104): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0008g0059 a0001c0001t0011g0120 a0002c0002t0001g0066 a0002c0002t0002g0021 a0002c0002t0002g0128 a0002c0005t0010g0094 a0002c0008t0002g0015 a0003c0003t0001g0003 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0054 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0126 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0142 a0003c0003t0001g0146 a0003c0003t0003g0010 a0003c0003t0003g0037 a0003c0003t0003g0041 a0003c0003t0003g0075 a0003c0003t0003g0093 a0003c0003t0003g0127 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0145 a0003c0003t0003g0161 a0003c0003t0003g0162 a0003c0003t0003g0163 a0003c0003t0004g0026 a0003c0003t0004g0125 a0003c0003t0004g0144 a0004c0004t0001g0008 a0004c0004t0001g0009 a0004c0004t0001g0016 a0004c0004t0001g0019 a0004c0004t0001g0028 a0004c0004t0001g0046 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0124 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0152 a0004c0004t0001g0153 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0157 a0004c0004t0001g0158 a0004c0004t0001g0159 a0004c0004t0001g0160 a0004c0004t0005g0008 a0004c0004t0005g0027 a0004c0004t0005g0051 a0006c0007t0001g0017 a0006c0007t0001g0129 a0006c0007t0001g0140 a0006c0007t0001g0141 a0007c0011t0001g0038 a0008c0009t0004g0078 a0008c0009t0004g0079 a0010c0014t0001g0077 a0012c0013t0001g0006	217	414	0.5242	-1977	c.234 others(17): Show c.234+3334_235-3386del		C2orf73	ENSG00000177994.16	transcript	ENST00000398634.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF18_chr19_7343937_7477478	7396554	AAAATACA others(1969): Show AAAATACAAAAATTAGCCGGGCATGGTAGCGGGCGCCTGTAGTTCCAGCT ACTCTGGAGGCTGAGGCAGGGGAATCACTTGAACTCGGGAGGCAGAAGTT GCAGTGAGCCGCGATCGGGCCACTGCACTCCAGCCTGGCGACAGAGCAAG ACTGTCTAAAAAAAAAAAAAAAGAAGTGTCAGGAGCACAGGCTTGAGGTC AGATCCGAGCTGGGTTCTGGTCCCAGTTCCACCACCTGTTAGCCGTGTAA CTTCACTAAGTTTCCGTCTTCCCATCTTTAAAATGGGAATAAGGGTTGGT TGGGGTTTCTATGAAGTAATCTGTGTAAGGTGCATCACAGAAGTGTCTGG CATATGGCAAACTTTCCATCAGTGTTATACACCCTTTGCATATGCGAATG CTCCCAGGCTTGGATGTTTAGGTTAACATTCCAAATTATAAAGAGTTTGG AAAATTTGAGCATCTCGGATGTTGTTTGGACCGAGTCAGGGTTTACGCTT TATCAGTAGTTTCCTATTTCTGTAGGTCAGCAAGCCTTTTTGCGAAAAAA AAAAAAAAAAAAAAATGAAGATGTGTTTGTTCTAGAGCAAAAAAGAGCAA ACAGCTGGCAGGCATAATACATTTCATTTTTGTAAACGTTACTTTGTTTT GGTTTTGTATAGCTTATTTAGTTTTTGTTTTCTTCTGAAATTAGTATGTG ATTTTACTTAAAATTTTTTTTTTCTTTTTAGAGACAGGGTCTCACTCTGT TGCCCAGACTGGAGTGCAATAGCACAATCATAGCTCACTACAGCCTCGAA CTCCTGGGCTCAAATAATCCTCCTGCCACAAACTCCCAAGTAGCTGGGAC TACAGACACGCGCTTCCATGTCTGGCTAATTTTTAAAAATTTTTTGGGCC GGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCCGGGGG GGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGATGGCGT GTGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCA GCCTGGGCAACAGAACGAGATTCCATCTCAAAAAAAAAAAAAAATTTTTT TTGTGGGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAAGTCCTGGACTCA AGCGATCCTCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAG CTGCCACAGCCTGTGGTTTTTGTTTTTGTTTTTTTAACTGACAGATAACA GTGTATGTATTTATCATGTGCAACGTGACATATTCTTGAAAAATGCAAGA GGAGCGGATGTTAAGCACTTTCACCACAAAAATGAGAGCTATGCGAAGTG CTGCATTTGTTACTAAGCTAGATTTAATCATGCCACTGTGTATATATACT TCAAAGTGTGTTTCCTTTTTCTTTTTCCTTTTGTTTTTTGAGACGGTCTC GCTCTGGCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTACAA CCTCCGCCTCCCAAGTTTAAGCAATTTCGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGT AGAGGCGGGGTTTCGCCATGTTGGCCAGGCTGATGTCGAACTCCTGACCT CAGGTAATATCCCCTCCTTGGCCTCCAAGAGAGCTGAGATTACATGCATG AGCCACCACGCCCGGTCATATTTCATTTTTAAATGGCATACCTTAGAGAA GCAGAAAAGAGACCGGGCACCATGGCTCACACCTGTAATCCCAACACCTT GGGAGGTCGAGGTGGGCAGAGAGGCCAGGAGTTCGAGACCAGCCTGGCCA ACAGGGTGAAACCCCATCTCTACTAAG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02683.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0134 a0001c0001t0002g0052 a0001c0001t0002g0134	2	298	0.0067	-1976	c.967 others(19): Show c.967+13368_967+15343del		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	10/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ASMT_chrX_1610059_1648081	1638264	ATCCATCC others(1969): Show ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCT TCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAG TGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTG TGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGT GTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGAT GGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGT CCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGC ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	223	0.0045	-1976	c.910 others(17): Show c.910+1792_911-2476del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
LUZP4_chrX_115284715_115312563	115307964	AGTATTTC others(1969): Show AGTATTTCCAAGATGTGTGTATGAGTTATTGTGTATGTAGATGATGTCTG ATGCAGGCATCATTTTAATGCAAAAGGTCCCACCCTACTTATATTAGCAG TATACACATAATCTGCTATAAAAATGAAAATGTTTAATACTGATGACAAG CAATCCATATTTCTGCATTTATTAGGGATTTGTACACATTTTACTTAATT TTACATATCAATTTTTGTTTGTCATGTGGCATAATACTTCCATTAAGGCA CTAAAAATTCTATTTAAATTATTGTCCATTGGCATATTCCTATCATTTTG CAAATACATTTTAAAATATAATGAATAAGTCCACTCAGTTTTTTTCCTTT ATGTTCCATTATAATTTTTTCATATTCTCAGCACAAATAGATACCACCTG AATGGTTAAGGTTAAATTAATCAATGTAGAGCTATTACTAAAGAATACAT AAATTACAGAAAATTAACATGTATTAATTGATATTTTGGAGATTAATTAT TCTACTCCATAACTTTCTACTCTAATATGTATTAGAATAACAATAAATTG ACCAGATGGGTTTAATAGCACCCTTCAGAACTAAAATTTGCTTCTATACC AAGTATAAAATAAAGATTTCAGTGATTTCATGATCCCACTCAAAATCTTC CCCTCAGGCCAGGTTCACCAGAAGGTAAAGATATGCCAGAGAGGCTACAT TTCTGCTTTAAACAAACAAGTTAAATCCAGAAGGCCATTGTGGCCTTAAT AAATAGCTGGGCCAACACTTCAAATAAAATATGATAGCATATTCAGAATA TTATTTATTTATGAAGTTTGGAATAACTTATTTTCATTTTTGAAAAACTA ATATGCCTCCCAATAAAAACTCTAAACAGGATGTATGCAAACAAGGTGTA AATTTGAATTTTTAACTCCCTTAAAATACCTGATAATTGCAGCTTTTTGT CTTCTTTCCTGATATGGTAATAATACTCATAGTCAAATGCCTTCCTTGGC TGGACTGATAGGTAGAGAGGGATAGCAGAACAAAAACTGTCTTTTGTACC CCCACTAGGTGTGGCAAAATGAAATGTGTGGCAAAATATGCATATCTTTA CATTAGTTGGGCTGTCCACCTGATTAAAGCTTTTCTAAACATAGATAATA GCTTCGGAGGAAATTACGTATTTAATTTAGTAGTGCTTGCTATTTGAACT CCAATTATAGAGTGACAACTAATATCTCATCATTTAGCATCTCTCTGGAT TTTAATACTAGACAGCATTCCAAGTAATTCTTAAAATAGATTCAGGCTTG ATTATAATTGACAATCAGATCTTTGGGTCTCAAATCCCTAATATATTGTA TGTCATTCTGAAGACAGACGTTTTTTCTGATACTTGATTTTATTATTTGA TTTTCCTATTTTTATTCCCAAATTCTTCACTTTTCCCTAGCCCCATTTGT TGCCTAGTTGTTCGTATTTTTCTTATTTCTTGAAAGAAGATGCCAGTGAG AATCTGGTTTGCATTTTTCTAAGGAATTGGCCTCTAATGCGGCATAAGTA GCATGAGTAAGTGGAAGTGACATAAGAATAAGAAGACATGTCTCCATGTC CCAAATCTGTCAAAGTATATGACATTGGACAAATTAGTTAATAACTATGC ATCTCAATTTCCTAATATGTGAAAGGAGGAGTTTGGACTACATGACTTTA AAAACCTCTACCAACTAAAAACATCATATGAGTCATGAAAAATGAATGAT TTATTCATTTTTTCATTAAAAAAATTGTGGTTAAAAAGATACAAAATTTA CCATCTTATCCATTTTTAAATGTACAGTTCAGTAGTAAATACATTCAAAT TATTATGCAATACATCTCTAGAACTTTTTCATCTTGTAGATCTTAATTCT ATACCCATTAAACAACAACTCCCCTTTTCCCACTTCCCTCAGCATTCCCT ACCATTTATTTTTTTCCTACAATTTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01515.hp1 others(8): Show HG00323.hp1 HG00735.hp1 HG01515.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 NA18968.hp1 NA19081.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0003g0036 others(3): Show a0001c0001t0003g0010 a0001c0001t0003g0023 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0044	11	280	0.0393	-1976	c.11 others(11): Show c.1161_*3136del		LUZP4	ENSG00000102021.11	transcript	ENST00000371920.4	protein_coding					402		chrX	TogoVar
PHYKPL_chr5_178203471_178237802	178217958	CTGTAATC others(1969): Show CTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA AATACAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGC AGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAAA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAACAGT CATATAGACCCAAGGACACAAGCATACCAACATGCAAATGACTGTCCCAG AAGGAGAGGAAAGGGGCAGAACAAATATGAAAACGTTAAAAACCCTATGT AACTTGCAGTGAATTGAATGTTTGTGTCTCTCCCAATTCATGTGTTGAAA TCCTAACCTCCAATGTGATGGTATTAAGAGGTGGGGCCTTTAGGTTATTA GGTCACAAGAATAGAGCCTTCATGAATGCGAATATGGTTTTCTAAAAGAG ATCCCAGGGAGTGCTCACCCTTTCGACAATATGAGGTACAGCGAGAAGCT GGCTGTCAGCAACCCGGAAGAGGACTCTCACCAGAACCCCAACCATGCTG GTGCCCTGATCTTAGATTTGCAGCCTTCAGAACAGTGAGAAATCTGTTTA TAACCCACCCAGTCTATGGTATTTTGTTATAGTTATAGCATCTTGAACTC ACTAAAACATAACTTTTAAAGAAGTTAAAGCAGCAGTTAAATATCTTCCC ACAAAACACAAGGCCCAGATGGCTTTATAGGTGAGTTTTTACCTTCAAAG GACAGATCATCCCAATTTTATGTAAAAGAAAAAGAAGAAATATTTCCCAA TTTATTCTATAAGGTTAGTAGGACCCAGTTACCAAAACCCAAGGTATAAG AAAAAAATTTGAGCCAACATTTTACTCCTGAAAACAGAGCAAGACTCCGT CTCAAAAAACAAAAAAAAGTAAAGGAAAACACTGTAGTATGACATGCACA AAGGATGTAATTGGATTCCTGATTCACATCGTGTACAAAAATAAACTCCA GATGGATTAAGGACCTATATGTCAAAACAAAATGTTAAAAGACTTAAGAG GAAACATAAATGAATATATTTTATAACTTGGAGTAGGGAGAGATATCTTA AACAATATATGAAAAACACCGTCTATAAAACAAAATGATAAGAGTTGACA ATGTTAAAATTTAAAACTTTATAAATATGTAAAGGGAGTGAAGACAGGTT ATAAACTGGATGAACATATTCACAAATACACAATAGACAAGGGATTAGCA TAATAGATATGTATGTGTTGGTATATACACACACACACAGACACACACAC ATACAAACAGACACAAAACTCCCACAAATAAAATTAAGCACTGGTAACTC AATAAAAAAAAAATGGGCAAAAGACACAAAAGACACAAATAGGCATTTTT TTTTTTTTTTCTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACG CCCGGCTAATTTTTTCTATTTTTCAGTAGAGATGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCGGCTTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGACCACAAATGG GCATTTCATTGAAGAGCAAACAAATGGTCAATAAACATATGAAGAGATAC TTCACGTAATCTGAAATCAGGGAATGGCATATCAAGACCATACAAGCTAC TGTTTTACGCTCCACTTGACTGGCAAAAATTAAAAGGCACTGAAGAAGAT ATAGGCCGGGTGCAGTGGCTCATGCCT	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	440	0.0023	-1976	c.927 others(17): Show c.927+2421_928-2529del		PHYKPL	ENSG00000175309.15	transcript	ENST00000308158.10	protein_coding	8/12						chr5	TogoVar
GPR39_chr2_132411805_132651582	132567851	CGAGATCT others(1968): Show CGAGATCTGATGGTTTTAAAAAGGGGAGTTTCCCTACACAAGCGCTCTTC TCTTGTCTGCCGCTATGTGAGACATGCCTTTCACCTTCTGTCATGATTGT GAGTCCTCCCCAGCCATGTGGAACTGTAAGTCCAAGAGACTTCTTCCTTT TGTAAATTGCCCAGTCTCAGATTTGTCTTTATCTGCTGGTGACACTGGTT CTGATTTAACTGGCCTTGAGTAGGGATGAAGAGTTCCCATATGATTAAAA TGTGCAGCCAAGACTGAAGATCACTGGTCTAGGATAATCATGGCATTTCA ACTCCCCTTGCCAGTGGTTAAGATAGGGCAAACAATGCCAGTTTGGCAGA TGAAACATGAGAATGCAGGGATGGGAGTGGGGAGATTTAGAAAAAGTGTC TCACCTTTAGGAAGTGATGATGTTTCTTTCCTTTTCATGGTCTTGGAGTT GTTGGGCGGGGGTGTGATGCTTGTCGCCATTGCAGCTATCTTTTGACTGT GAGTGGATATACCAGAGGACATAGATTTCTATGATGAGGTTTGCATGATG CAATGTTAAAAACAACCTAGGTTGGCCAGGCACGGTGGCTTATGCCTGTA ATCTCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGCCAGGAA TTCGAAACCAGCCTAGCCAACAGGGCGAAACCCTGTCTCTATTAAAAATA CAAAAATTAGCCAGCCTTGGTGGTGGGCACCTGTAATCCCAGCTACCCAG GAGCCTGAGGCAGGAGAATGGCTGGAACCCGGGAGGCAGAGGCTGCAGTG AGCTGAGATTGTGTCACTGCACTCCAGTCTGGGTGACAGAGCAAGACTCT GTCTCAAAAAACCTAGGTTTTCAACAGTGTCATCGAGCTGCTAAACAAGT CAAATTTGGAACCCCAGCCCTCTAGTTGGGGAGAGGTGGCTTGATAGCAT GCCCTGCTAAACATGCACAGCACCTTCTGCTGGGTGTAAAGCTCTCTTAG CTCTAAAGCTGTTCACTCATCACAGGAGAGCTGCCAAGAGCCAGTGGCCT TGCTGGGCAGGCCTTATCTGCTACTGAGGGCTTTGGGCAGTGAACGAAGA CAGAATTTGGGCAGATTCAGGCTTGACTTCTGGTCACTGTGTGAATTGAC TCAATGAAATGCATAGACTAAGCGCCTTGGTTTTATCATCTTTACAATGG GACTAGCACCCAAGGGTTGTTGCTATGGTTCCATTTAAAGAACTCAGCAC AGTACCTGGCACGTTGTAACTTCTTAGTAAGTGGCAACTTTTACACTTTT TGGTATATTTACTCTCCTTATGCTGCAATGAGCAAGAGGTGAAATAATTG GAAAGAATAACAAGAGAGATGTTTGATTTTTGGAGGACTAGTACTCTAAC AGTTTTGAAAGACTGAACAAGTTTTTCCTGTGGTCCCCTCTGCCTGAAAT TTATCAAAATAATTTGAGCCTGATTCACCAAGTCAGCACAGATGTTGGGC CCAGTGTGACTGGCTGAGCTCTATATTCTAGCTCTGCCAGCTGATGGGTT TGATGGATGCGTGGAGCCCACAAAACCCCTGCTACTGGTCGTGCAAAGGC TGTGTCTGAGCAGCGGGACCACACCTCCCTTAAGGCTGAGTACCACTTGG GACAGCAGCTGTGGTGGGGAGGGGGGCTGTGGAGCTCTGTGGGGATGGGG TCCTCCGGCTTTGAGGGCTGAGTTCTGGAGTCCAGTGTCACCTAGATCCA GAGTCCTGACCATACTGGGTGGGGCAGTGGGGGTGGGGGGGGTCCCATCG TTCCCTAGAGCTGGCTGTCAACCTGACTGATACAGTTTGGCTCTGTGTGC CTACCCAAATCTCATCTTGTAGCTCCCATAATTCCCATGTGTTGTGGGAG GGACCCAGTGGGAGATGATTGAATCATGGGGTCAGGTCTTTCCTGTGCTA TTAACTTTAGAGTGAATAAATTTCAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03453.hp2 HG01109.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0208 a0001c0001t0012g0077 a0001c0001t0001g0208 a0001c0001t0012g0077	2	208	0.0096	-1975	c.857 others(19): Show c.857-77226_857-75252del		GPR39	ENSG00000183840.8	transcript	ENST00000329321.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKE_chr17_56829151_56874567	56872593	GGGCCTTT others(1967): Show GGGCCTTTGGGAGATAATCAGGATTAAATAAGGTGGTCAGGGTGGGCCTC CCATTATCAGGCTGGTGAAAGGAGCCATGACCTTCAAACTGATACTAAAT CTTGACCATGATTTAGGTAATGGCAATGGACTCTGGACCAATAAAGCCCT CAGACAACTGGACGGAGGGGGAGATCAGACAAATAAGAACCTATTATTTC TAAATAAGTGAGACATTATGTAAATGGGAACATATAAACAGAGCCGTATG GTCTGGAGTCAAGTAACATACATATTAGCAGGGCATGTGATCATTTATAA AACAATTTTATATAAAGTATTCCCCATAGAAACCCAATGGAGGAGGCAGA GTAGATATAATTTTTCTAAATGAGTACATTGCGATTCAGAAAGGCTGATG ACATGCCAGGGTTGCACGGAGCTGGGATACTGATCCAGTCTTGTGACTCC AAAATTTAGTGGAGTTTGTTGTTCATTTTTTTCCCCCACTAAGTTATGCC ACCTTTTTCCTAGGTCAGGGGTTCCTAGCCTTTATTATATCATAAGCCAG CCTCTATAAGAAGTTGGCTATAGCTACAGACACTTCCTCCCTCCCTCTGA CCCTAGCAGTTTGGCGCATACAGCAGAATTTTGCAGCCAACTTGGAGGGC CTCCGAGACTCCAATTAAGAACCTCTGAACCAAAGATACCAGTCCTAGCT GAGGTATCTCAGACATATTTAGTATAAACTGGCAATGAGCTTGTTCTGTC TGGTTATCTTCTGTCTGTGGCCATTTTCTATTCTGATTCATCCACAAGCC CACAGAGAAGTCAGTAACACACAGGTTCAGAAAAGCCAGTGGTGGAGAAA TGTTTCCGGGAGAAAAAACAGTGGCACTAGGGTTGCGCCTCTAGGGAGGT GCCATTCGACATGTTCTGGGAACAACATGCTGGACAAGCTGGCAAGAAGA AAAGACTGATGCGTGGCCAGGCGCGGTTGCTCATGCCTGTAATCACAGCA CTTTGGGAGGCCGAGGCGAGTGGATCACCTGAGGTCAGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCTGGGTGTGGTGGCGGGTGCCTGTTGTCCCAGCTACTTGGGAGGCTG AGGCAGTAGAATTGCTTGAACTCGGGAGGAGGAGGTTTCAGTGAGCCAAG ATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCA AAAAAAAAAACAGATGAACAATCCAGTATTATTGAGAGAAAGGTGTAAAG TGAATCCCATTATCCGCCAGTTGGGGGTGACATGAATGCCATAGCTATTC TTTGTCATATCTGCATTTGCACATTGCCACGTTGAATGGTTATGCTTTAA AATTGGAGAGTTGGAACCAAAAACAGTTCACTGTACTTGATAAAGTAACT CATGTATGTCATCAACAACTAAGGATGACTGTTTCCTCTTCAAATATGCC CCGAGTATTTATCCAATAAACAAAACTAGTTATTTTCTATAGTGGTACTA TAGAGTCATTCCATTTGCTTCTAGAGTTTCCAGTGAACCAATGCCTAATT TCAGTGAGCTCTCTATGATATAGTTAAGGGTATCATGGTCATGTTCTGGT ATTATATCTGCATCATTATATAGAGTAGTTCAGTCTCCATAATCTATATC AAACCAAAGACTTTGATTACAGAGGGAGTCTGGACCACTGCTGAGATTAG TCCCAGTTTTTCTTTTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTG AGACAGAGTCTCAATCTGTTGCCCAGGCTGGAGTTAAGTGGAACAAACAT GGCTCACTGTAGGCTCTCCCTCCAGGGCTTAAGTGATCCTCCCACTGCAG CCTCCCAAGTAGCTGGGACTACAGGCGTGCATCACCATGCCTGGCTAATT TTTGTATTTTTGCTTAGTAGAGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18967.hp2 NA19010.hp2 others(2): Show NA18951.hp1 NA18967.hp2 NA19010.hp2 NA19058.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0021 a0001c0004t0001 a0001c0001t0021 a0001c0004t0001	a0001c0001t0021g0079 a0001c0001t0021g0080 a0001c0004t0001g0004 a0001c0001t0021g0079 a0001c0001t0021g0080 a0001c0004t0001g0004	5	324	0.0154	-1974	c.98 others(12): Show c.9803_*11776del		DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding					3027		chr17	TogoVar
HTR3E_chr3_184092064_184111995	184099474	GGAGGCCG others(1967): Show GGAGGCCGAGGCGGGTGGATCATGAAGTCAGGAGATTGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAGAAAGAAATATGCACAATTATTATATGTCCATT AAAAATAAAATAAAACTTTTTTAAAGCCTCAAACTAGAACGCTGGTGATA GAGTTGGGTAAAGTCAAGTAAGAAGGAAGGTTGGGGCAGTCGGGGTGAAA ACAGGTGTGTTCTCTCCGGGGCCCCGGGACTGTAATCCTATCGGATGACT ATCAACATTCCAGGCACAGTTTGCATATAGATTTGGGCATGCTTTGCATG GAGACAGAAATATTAGAAAGGAGGCTGGAGCTCTAGCTCAGCTTTGCTAC ATTAGCTTCCAGAATTTGCATTCCAGCTCACCCCATCCTCCCGGGCCTCG GAAGGAAGAGCCCAGCGTCTGGACCCCTCTCGGTGATCCCCTCCCCATTC TTCATCTCATCCCTGGGGACGTATAGCACAGCAGCAGCAGACAAACCTGG GTTCAGAACAAGTCCGGCTTCTGCCTTTTATTGGCTGTCTGACTGTAGGA AGTTACTTCCTCTTATTGCACCTTAGTTAGCTCGTTTATTACATGAGGGT AAAGCAGTATCTACCTGATAGGGGATTGGGAGGATTAAATGAGGTAATCC ATTTTTAAAGGGCTTAGAATATACCTGACACACAGCCAGTGCTCAACAAA TGTTAGCTTTCATTTTATCACGGGCGACCCCACGCCCTGCCTTGGGGCCC CTCTCATATAGGGAGCACAGGGTTGCTCTCCTTCATCTCACACATTCGAT GTCCACTACAGGAAGGGGCGTTACTTTCACCATCAATTGCTCAGGGTTTG GCCAGCACGGGGCGGATCCCACTGCTCTGAATTCAGTGTTTAATAGAAAG CCCTTCCGTCCGGTCACCAACATCAGCGTCCCCACCCAAGTCAACATCTC CTTCGCGATGTCTGCCATCCTAGATGTGGTGAGTGCTGACCTCTCTAGCC CTCCTTGGTGTCCTTAACCTTTTTCCAGCCCCTGGCAAAGTGGCCCCCCA AAGCCCTTATCCACATTTCTGCTTCCTCCACCACTGCTGGATGGCATTTG CCTGGCATGGGGATCTCAAAGAAGCTCTGTCCAGGGCAGCAGGGTGAGGT ATAACAGCACATGGAAGAGAATCTTTTCTTCTCTCTCTGGCTGTATACCA GTGACCAGGTTCTAATCTCAGAGGTTTTGATTGGATGAAACCCAAGCCTC GTTTTTGTTTTGTTTTTGTTTTTGTTTTTGTATTTTTTGAGATGGAGTCT CACTCTGTTGCCCAGGCTGGAGTGCAATGGCACGGTCTTGGCTCACTGCA ACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGATTTCAGGCATGCGTCACAACACCTGGCTAATTTTTGTACTTTT AGTAGAGACGGAGTTTCACCATGTTGGCCAAGCTGGTCTCAAACTCCTGA CCTCAAGTGATCTGCCTGTCTCGGCCTCCCAGGCATTACAGGCATGAGCC ACCGCGCCCGGCCACATCGATATTTTTAAGCTTCTCGAGTTATTCTCATA TACAGCGAGGGTTGAGAAGGACTACTTTACTCCCGCCCTGCTGTGAACTC TCCTGTCCGTAGCCTAACACATGGGTTTGGATAGAGCTTTTGTTCTGGAT CACATATCCCCTTTATATACCTTGGGAGTTGGTAAACAAGCATGGGAAGT GGGGGAGATGGAACAGACTTCTTAC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00609.hp1 HG00609.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0182 a0006c0007t0001g0182	1	422	0.0024	-1974	c.68- others(14): Show c.68-1010_235-37del		HTR3E	ENSG00000186038.9	transcript	ENST00000415389.6	protein_coding	2/9						chr3	TogoVar
ADARB2_chr10_1172313_1742525	1235668	CCCTCCCG others(1965): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTC CTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAA AGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCT TTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTA CACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCA CAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATT AAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAG GTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCAT GACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTT GCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCA CCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTC TTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTT CACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTT ACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAG CCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTG AAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAA CGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC CTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCC GGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG GTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGT TTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCTCC CTCCCGGTGTTTACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0103 a0001c0001t0057g0103	1	106	0.0094	-1972	c.136 others(19): Show c.1362-3795_1362-1824del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ATAD5_chr17_30826966_30900869	30874120	GTGCCACT others(1965): Show GTGCCACTGCACTCCAGCCTGGGCGACAGTGTGAGACTCCGTCTCAGAAA AAATAAATAAATAAAACCAGTCTTTGGACTGGTATTCATACATGATCAAG CAGTCCTTGGTCTATATCAAAATAAGAAAAATAAGGACAAAGGCCAGGCA CGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGG ATCACGAGGTCAGGAGATTGAGACCATCCTGGCCAATATGTTGAAATCCC GTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGTGCTTGT AATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGAA GGCAGAGGTTGCAGTGAGCTGAGATTGTGTCACTGCACTCCAGCCTGGTG ACAGAGTGAGACTCCATCTCAAAAGAAACAAAAAAAAAAAAAAAAAGAGG AAAAAATGGTGTTTTTTATAAATTGATATCTGTTCAACTATTTATTTATT TATTTATTTATTTATTTATTTATTTATTTGAGATGGAGTCTTGGTCTGTC GCCCAGGCAGCAGTGCAGTGGAGCGATCTCAGCTCACTGCAACCTCCACC TCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATT ACAGGCACCTGCCACCATCCCCAGCTAATTTTTGTATTTTTAGTAGAGAC ACGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTTGTGAT CTGCCTGCCTTGGCCCCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTG TGCCCTGCCAAATATTTTTATATTTTAAGATATTGCATCTCTTACCTGTG GTGTTGAAATGTTCTATATTTTTGAAATGATGGTCATGTCTGTGACAGCT TTTTTAACCTCGAGATTTTCAGTAAGCTTATTGAACACCTCTAATATACA AGGGCTATGATAAGATCTATGGAGATAGAGGGTAGAAAAAAAGAATAGGA CACAGATATGGAACTGTGATCATGAGATGGTATGTGAGGAAGATCCTGTT CTGAGGCCATACAGTAATTAGGATTTGTAAGGACTAAATCCAGGTACCTA GAGGGGAAGAGAGGATGTATTATGTGGAAAAATGCCATGGGGCTTTTGGA GAATAGAGGTGAACTATTTATTTTTTAACTTCGTATCTATCTTCCAAAGC ATCTCTAAAAATACATTTTATTGGCTTGCAATATTAATTTACTGCAGGTC TAAATTAAAGTTGAACAACAAAGTTCTGTAATGTGCTCAGTGTATACTGT TATTTTCCCTCCACCCTCTTCTTTCTTTAAGCAGGTGTAGAAAAAAATGA ACAGAGGTACTGTGAACAGTATTTGTTGTAAGAATGTGTATTTCTGGCTG GGTACAGGGGCCCACGCTTGTAATCCTAGCACTTTAGGAGGCTGAGGCAG GCGGATCGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGACAACATGGCAA AACCCATCTCTACTAAAAATACAAACGATTAGCCAGGCGTGGTGGTGTGC TCCTGTAGTCCCAGCTACTTGGGGGGCTGGGCAGGAGGATCACTTGAGCC TGGGAGGTGGAAACTGCAGTGAGCTGAGATCATACCACTTCACTCCAGCC TGGGTGACAAAGTGAGACCCTGACTCAAAAAAAAAAAAAAATGTGTGTTT CTTTGGAGTAGAGTGTCTTTTCTAAATGACTGGCTTGGCCGTGTGCGGTG GCTCATGCCTGTAATCCGAGCACTTTGGGAGGCCGAGGCGGGTAGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAATATACAAAAAATTAGCTGGGCGTGGTGGCGAGTGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTG GAGCTTGTAGTGAGCCGAGATCA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03704.hp2 HG03239.hp1 HG03704.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0217 a0004c0004t0001g0218 a0004c0004t0001g0217 a0004c0004t0001g0218	2	286	0.0070	-1972	c.360 others(18): Show c.3608-2227_3608-256del		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM163_chr2_134450759_134724000	134527352	GAGGAAAC others(1963): Show GAGGAAACCTTAGAAAGTATATTATAAAGAAATTTTAGAAGTTTAAGAAA AAGAAAAACCTTCAGAAAAAAATACAACAAATCCTTAACATGTGCAAAAG ACACTTGCCAAAAAAAACAGCCCCAGATCCCCAAATCCCGCTGCTATCGC TGAGGGTTGAGGAGTGAAGGGGAAGAGCAGCTGTGGCAGGAAATTGAAGG TCTAAGGGCTTTACAATTTCCAGAAAAGTATGTGACAGTGAGCCCAACAC CACAGGGCTCTCCACTTCCCGCTCTCCCGGGATCCTGAGCAAGGCTATAG GAATGACTTGTCCTAGCCTTGGGAATCATTCCGGTCCTGGCTGAAACCAC AAACACGGGCTGGGAAAATGACAGGATTGAGATGGGATGCCCATAAATAA ATCACTGTAACAGCATGGAAAGCCCTCTGATGAGGTGATATTTAAGAGGA ACATACGAAAATAATTAGCCAAAGACACAATCAAAAGAGTAGCGCCAACA TGTATGTTAGATATAGGTCCAAAATGGGCTAAGTCTTGGAAAAAATATTT CCAAATGCCATTCAGAACAAAATTCTCAGGTTAACTACAACCCAAGAAGA ATGGTCAATGTTTACATGAGACAAAAGACAGAATAGCACCACTTCTGGCC TGTCAACTGGGCAAGGAACAGAAAATAAAACTAATTAAGAGGACACAGAA GTCCAACAAGACAGAACGAAAAAGAAACACCTGGTCCTTCTAACACCATC CAGATCCTAAATCACATTATCCCAAATGGTGAAAGATCATTCCATGTTGT TATGGAAAAACTCCCAGTAGCCTTTTAAAAAATCAGGGCAAACAGGAAAC TATTCTAGAAGTTGGGAAATGGGTCTTGGTGTTTGTAAGCAGATCTTAGA AATTCAAGACCGATGAAAGGCTTACTTCAATTATCAGATGGCTTACTTAA CAGATTTAGTCTAACAATTCCAAAATGAAAAACATTTTGTTCAGCTCACC TAGGTTCACCAGGAATAAATCTAACTGGCCTAACTCCATTTCCTTTAGAG ATGGCTTCCCTAACCTAGTAAACCAGGAGAATGCCTCAGATGATACATTT TGATTTTAACAAGGCATCTGATAAGAGTTTCTTATAACATTGTTATGAAT GAGATAGAAAAGTTAGGGTATGGTGAGGTGAACTAAACTCTGGTTAGACA AACATTCTGGAAAATCTTGATCAGCCAAACAATTTGGAGTAACATCTCTA GGGTCAATTCTTAAGCCATTTGAAAAGTGAAAAAAAGTTGTAATGATACC ACTTTGCCTCTTCAATTGTCCATTTTTAAAAATGAAAACAGCCAGTGCTG GTTGGAATACAAAGTGTCAATCTCAGTGGACAATTTAGTAATATGTCTCA CACTTCTGATTAGAAATTGCATTTAAAGAAATATTCTTCCTAAGGAAATA ATCAGACACAAGATTGTATAAAGCCCTTCACTGCTATGTTATAATAGGAG AAGAAAAACCATACTTGGGTATTTAAGGTGAATGGTTAATAACGGTGCAT CAATAAGATGCAACATTGACACTTAAAAGGAAGTACATCAAGATTTTCAA TAACAAAGAAATGCTCACTTTAGAAAGTGGGGGGAAAAGCAGGATGCACA ACAGAACACGTACCATTAGCTCAGCTTTATAAAAATGTGTACCAACCCGG CCAGATGCTATGGCTCACACCTGTAATCCCAGCATTTGGGAAGCCAAGGC CAGTGGATTATTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGT GAAACCCCGTCTCTACTAAAAATAAAAAAATTAGCTGCGCCTGGTGGTGC ATGTCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCACTTGC GCCCATGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTATACTCCA GCCTGGGTGACAGAGTCTCGC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	222	0.0045	-1970	c.458 others(19): Show c.458+21248_458+23217del		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	4/7						chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805535	GCCCAGGG others(1962): Show GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	314	0.0032	-1969	c.13 others(11): Show c.1370_*3338del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1249		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805535	GCCCAGGG others(1962): Show GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	319	0.0031	-1969	c.-37 others(11): Show c.-3742_-1774del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3657		chr2	TogoVar

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Search Results (Total: 2609 hits)