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
RELN_chr7_103466789_103994658	103824628	GTGTGTGT others(1685): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTT GCTTCATTTTAGCTAGAGTTGCTATTTTATTTCAGTGGGAAGAATTTCTG CTATGCCAGTTCAGTCTTCCATGATGCCAGAAATCCTCTACAAACATATT TTTATGTGTCTGAAATTGTACCACAGAAACAAATATTTTGTTTATGTCAC TTAATATTCCAAGCATCTCTCATTGCTATACTATCTTCATAAATACTAAT TTTTAAAAGAAATATAGAGTGGTAGTATAGGATGGTGGTTTAAAGAACAC GTTTTGGATCAAAACACACCTGTCTTTGCGAGTTTTTGAAGCTCTTGCTT CAAATAATAGGTGGTTCTAGGAGAGTAAAGGAACTTAGTAGGCTGCCTGG TACACCAGTACTCAATAATTAAAATTTCTTTATTATTACTATTATGACCA TCATTATCATAAAATGGGGTTTCAAATTCCATTAATGCTCATTTTCATAT TAATAGTCTTCCAGACTAGCTAATTTTTAATATTAGGTACATGACAGTAA GTTTTCATGCGTAAGGGCACATTTGAAAAGATGCAGAATCTAAAATCTTG TAGCAGGGAAGTGGAAGATCAGCAAGGGGAAAGCAGGGACTGAGATCCAG GCATGGGGCAGACAGAGGAAAATGCCTTAGCCCAAGGCAGCCAAAGAGCA GCACTAAGTCCTGGGCACTGTAAGGGATGATAACCAGAGGCAATTCTCAC TTGTCATATTTGGCTACCATTGCCCATAAAATAAAAAACCATAGAAACTG CTGCACTGGCAAATAAAACTAAAATGAAAAATTAGGTAACCAGCTGTTTA CATAAAATTGTCTTATTTGGTGAGTTTAGAAGTTATGATGGTTCAAGTTC ACATAACAATGGCAAAAAACTTAGTTTTGCTTTCTTCCTTCTATGTGTCC TTTGAATTGCATGGTTAATTTCTGTAAATGTCACGGTAATATTTGGGGAA ATGATAACAGATTATCGAATCTTGTGCTACACAACAGAACTTTCTGTAAT AATGGAAACGTTCTACATTTGTGCTGTTCAATAAAATAGTCATTAGCCAT ATGTGGCTACTGAGAACTCAAAATGTGGCTGGTACAACTGAGGAACTGAA TTTTTTATTTAATTTTAATGAATTCAAACTTAAATAGCCACATGGCTTAT AGCTACCATGTTAGAAAGTATGGTTCTAAACAAATTTTAGAATGTGTGTA TGTGTGTGTGCCTGTATGTGTGCTATGGTTTAAATGTGTACCTCAAAGTT CGTGTGTTGGAAACATGATTCCCAATGCAACAGTGTTGAGAGGTAGGACC TTTAAGAAGTGATTAGGTCATGACAGCTCTGCCCTCATGAATGGATAAAT GCCATTATTGTGGGAGTAGAGTAGTTACCTCAGGAATGGGTTCCTGATAA AAGGATGAGATGGGTTCCTGATAAAAGGATGAGATGGGCTCCTTTCTTCT TTCAGGTATGCTCAGTTTCTGCCATGTGATGCCTTCCACCATGTTATGAC ACAGGAAGAAGTCCCTCATCAGATGCAGCCCCTTAATCTGGGACTTCCTA GTCTCCAGAACCATTAGCCAAAAATCTTCTATTGTTTATAAATGATCCTG TCTCAGGTATTCTGTTACAGAAGCACAAAACAGACTAAGACAA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	184	0.0054	-1692	c.473 others(17): Show c.473+7217_473+8908del		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	3/64						chr7	TogoVar
SLC12A7_chr5_1045384_1117063	1070113	GGGCATCA others(1685): Show GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCC CCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATC ACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC AGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGT GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGT ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACG GTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	118	0.0085	-1692	c.224 others(19): Show c.2241+1828_2241+3519del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
DNMBP_chr10_99870577_100014947	99947861	TTTTCTGA others(1684): Show TTTTCTGATTTTATAGATCTTCTATAGGTGTGTAAGATATTAAGGTTAGG AGAAGCTGAGCGAAGTATATGGAAGCTCTTATTTTTGCAGCTTTCTATAA ATCTAAAATTATTTAAAAATGAAATTTAAGAATGTTTTTACGATGTTGAT GATAGGGGAAGCTATGTATGTGTGGGGGCACGGGATATGGGAAATCTCTG TACCTTCCTTTCAATGTTGCTGTTAATCTAAAACAGCTCTTACAAAAAAC AAGTCCTTTAAAAAAGTCTATTATCAGGTAGAGAATATTTTTACATGTTA TTAAAATATATAATCATATCACGACATTGTGGCTCACAACAACAAACCGT GCATTTATCATACACAAATATAAAACCTCTGAAAATGTTAGTGTAATACT AGCACAGGAAAACTTGTCATCTTTGATTATGATCTCTACTACTATTCAAG AATGTGTAAGTAAAAGTTTTTTAAAATACAAGGTTATAATTTAGGAACTC CCAGGAATTCCAACTTCTTACTCCTGAATCTCAAATATTATTATCCTTCA GGAATTTGGAAACATTAGTTGACTACAAACAACTGACAGAAACAAATGCA AATTCTTTCTAGAGTTCAGGTGTCTTCACCTCAACTCTTAAGATTTTCCA AATACTATGACCAGCACACAGTAAGATAATCAGACACACAAAGAGCCTAG ACCACAAAAATGAGAACCCATGTGACATCAAAAACAGTCCCACTAACACT GAATATCTTGGAATCATACACAGACTATAAAACAGCTATGCTTACCATAT GGAAAGAAAATAAAAACCAAAGCTGGGCATGATGGCTCACATCTGTAATC CCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCTAGGAGTTC GAGACCAGGCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAA AAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATTCCAGCTACTCGGGAG GCTAAGGCAGAAGAATCACTTGAACCCGGGAGGCAGAAGTTGCAGTGAGC CAAGATCACGCCATTGCACTGCAGTCTGGGCAACAAGAGTGAGACTCCAT CTCAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA AATGCAGAGTTTTAAGAAGAGGCAGTAGCTACACTAAAAACCTCACTGTG GGTCTGGCACAGCACTGGTCTGACAAGGGGCCTGCCATCTCTGCACTGAT TCCCAGGTCCCAAGTAGACCAGTTCAAAGTAACAACAGAAGTAGGAGATC TCTGAAAACTCTGGGAGGTAGAGCAGGCAATTCAATTCAAATCAATTCAG TTAAACTCAACTCCCTTCATTAGGTATTTGAGTCCCTACTATGTATAGAA CATCATACCAGGTGTGTGGGAAATGACACACTGAATAATAGATAAAACCT GTCTTCTCAGTAAGCATATTAACAACTAAATATAATATTGATCAGAATTA GATAAATGTTATATTGAAAGTTCTTTAAATCTTAGGCCTTAAATTTTAAA ATTATAACTTATACAGAACCAGATTAGAGAAGTAATGCCTGGTGCTCAAA CTGGTTAATTTCCACCTCTTGAGGGATAGCTTATATTGTTGGATACACCT TTTATGAAGACAGAAAAAAATGACCTTATGAGAAATTGGCTG	T T	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0073 a0001c0004t0002g0073	1	274	0.0037	-1691	c.226 others(19): Show c.2260+5662_2260+7352del		DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	4/16						chr10	TogoVar
VAT1L_chr16_77783564_77985107	77931611	AAAAAGTG others(1684): Show AAAAAGTGATTTTATAATGGAAAATTATTTTTGTAAGCATGGATTGTTGT ACAGTGGAATCCTAGTAGGAAATAATGAAGTCTGAATATGTAGTGATATC TTATAAGCCCCTAGGCAGGGGGCAATATGAAAATCACACAGCTGGAAAAA TATATATTGATCTTACTAAATGCTAGCACATGCTAGAGTTAGTAGGGTTA GTAGTAATTATATTTAAGTTCAAAGTGTTAGGGGAAAATCACCTAAGCAA CTATGTGAACTTTGACTTGCTATTTTTTATAGGAAAACTTTGATGTACTG TGAAAACATTGTATCTTTACTGCTATGTTTTGGGATTGCCTGTTTTACCA CTAAGGGAGTAGACATGTATTATTTTGCCTTGGATTTTCATTCATTCATC CACGCCTGAGCATTTAGTTCATGGGAATGTTTGGATTCTTATTCTTTCAT GGCAAGGAAGGAAATGCATTATATAAGCCTGAAATACAGTAATTTTTTTT TTTTTTTTTTTGAGATGGAGTCTCGTTCTGTCACCCAGGCTGGAGTACAG TGGTGCGATCTTGGATCATTGCAAGCTCTGCCTCCTGGGTTCAGGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCAC AGCTGGCTAATTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTGTCCATCTCCTGACCTCATGATCCTCCCGCCTTGGCC TCCAAAAGTGCTAGGATTACAGGCTTGAGCCACCACTCCCAACCAAAATA CAGTAAATTTTTAAAATGCCAGATTAAACTAAGTTAGATAGGTTTCTTTC CTGCAGGACTTCTTGTTGACAGAGTATACAGCATTTTCCTACTTATTTGA CTGTGGAAACTCTTTTCTTCATATCTCACTGAATACAAGTTCACAAGATT TTGGTGTCCCATCCTATATCCCATCAGATTATCAAATCGTAGCAACACAA TATCTTACACTTGAGAGAAAAGCAGGACAGTCCTTTATGATTTGGTACCT GCAGTAGAAACAGAGTGTCTGGTGAAAGGAATGCCACCTCCTACCAATTC AGCAATCCCTGAGATCCACTCATTTGTGCTGGCCACAGTACCTCCAAGCT TCTCTTCCTCTCTGTTCTGCCCACAAACCTGCATTCTTGCCTGCCTCCTG GATTCACAGAAATCCAAAGGGAAAAAACAAAGGAGGTCTTTCTTTACCAG GAGTGCTGAGATAGCTCGCAGGAGAATGAATGGTAGGATTCAAGCATGTT AGAACTCTACAGAAACAGAGGGACATTGGTATGATTCCAAGCACTTGGGG ACAATTCTCCCCCACACATTTCATTGGCTAGAACTGATCGCATGGCCCCA CCTGACTCCAAGGAGGCTGGGAAGTGAAGTCTTCCTGAGTGTTTAGGAAA AAGAGAACCAGATATGGAAAAGTACAAATCTTTCCACCTCAGGACCCTAA GTTCTTAGTCATTCCAGTGTCAGAAGAAATTAATGTGATGGAATACTTCA ACTATCACTCCTTGAAGTTTCATCACTCTCTCTCATTTGGACTTATAGTA AACCCCTATCTTAGTTCCCATTGTCGCCTAAGAAAACAATAGTTCAGCAT GGTAGAGTAACTTGTCCAAGGTTCTTTTAGCTAATAAGTGAC	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0146 a0001c0001t0008g0146	1	342	0.0029	-1691	c.107 others(21): Show c.1078-40235_1078-38545del		VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
GSK3B_chr3_119816321_120099447	119936323	AAATATAT others(1683): Show AAATATATATAAAAAATATATATATATATATATTTTTTTTTTGAGACAAA GTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTAGGATCTCAGCTCAC TTCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCGGCCTCCTG AGTAGCTGGGATTACAGGCGCACACCACCATACCTGGCTAATTTTTGTAT TTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACT CCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGTGTGAGCCAATGCACCTAGCCTTGGGTATCGTATGTTGATTAAAAA AATCAAGTCATCAAGGAGCTATAACAATTATATACACAAATGCACCAATC AACACAGCCCCCAATACATGAAACAAAGACTAACAGAATAGAAGGGAGAA ATGGGCAGCTGTACAATAGTTGGAGACTTCAATATACCACTCTCAATAAT GAACAGAACATCAAGACAGATCAATAAGGAAACAGATAACTTGAACAACA CTAAAAACCAACTGGACCCAACATACATATACAGAATACAGCCACCCCCA AATAGCAGAGAACACATTATTTTGCACCTGAGCATAGGTCTATGCAGGAT AGACCATATATTAGGCCACAAAACAATGTTAATAAATTTTAAAAGACTGA AATCATATGAAATATCTTTTCTGACCACAATGAAATGAAACTAAAAATTA GTAATGAAGGGAAACCAGAAAATTCACAAATGTGTGGAAATTGAACAATT CACTGTAGACAACCAATGGTTTAAAGAAGATAACAGACAACACACTTGCT ATAGTTTGGACTGTTTGTCCCCCTAAACCTCATGGTAAAACTTGATCCTC AGTGTTGGAGATGGGGTCTAATGGAAGGTATTTGGACCACAGAGGTGGAT CCCTCATGAATGGAATTGTGCCTTCCTCTTGGTAATGAATGTGTTCTCAT TCTATGAGTTCCCTCCCACTACAACTGGTTGGTAAAAAGAGCCTGACACC TCTCTGCTATCTGGCCACGTAACCACTGCATATGTTGGCTCCCCTTCACC TTCCACCACAAGTGGAGGCAGCCTGAGACTTTCACTTTCTAGCTAGCAGA ATTGTGAGCCACATAAACCTCTTTCCTTTACAAATTACTTGGCCTCAGGT ATTCCTTTATAGCAGCACTAAACTGACTAAGATAATACTCTTAAACAAGA AAAATTTTTACATAGTTAAGACATAATACCAAGACTTACGGGATGCAGCA AAGACAGTGCTCAGAAGGAAATTTACAGCTGTAAATGCTTACATTAAGAA AGAAGATCTCAAATCATTAATCTAACTCTACAACCGGAGAACTACAAAGA AGAAACTGAACCCAAAGCTAACAGAAGGAAGGAAATAAGAAATATATGAA TAGAGATGAATAAAACAGAGAACAGAAAAAAAACAGAATCAACAAAACTA AAAGTTTTTTTTCTTTTCAATCAACAAAACTGACAAACCCTTAAAAGAGT TTAGATGTAGGGATAGACTGACAAATAAAAAGAAAAAGAATTAAAATCAG AAATGAAAGTGGGGCCATTACTACTAACCTCACAGAGACAAAAAGGATGA AAACAGCATACTACAAATAATCGTATGTTAACATATTAGAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp2 HG03209.hp2 others(1): Show HG02145.hp2 HG02895.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092	4	300	0.0133	-1690	c.366 others(18): Show c.366+9255_366+10944del		GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	3/10						chr3	TogoVar
NBPF9_chr1_149047186_149108551	149081362	CCCGCCTC others(1683): Show CCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGAGTGAGCCACGTTGC ACGGCCCCTACTCCCTGCTCTTGATGCTGTCACTTATAGGTAGCACAGGT TCTATTAGGAGCAGACTCCTCTTGAAGCCCCTCAGAGCAGGTACTGGCTA CTATCACCAAGTTCCCCTCAGAGTCACTAGAACAGAGCTTTGCCTCTTGG GCCTCAACGGAAATTTGAACTGAATAAAAGTTCACTAGTCCTAGACATTT AGAACAACAGACTAGATGTTATTTGTCTGCAGGATCTTATAAGGTACAGA GAGGATTCTTGAAAACATGATTGAGCCTCTTGGAGAAAACAGGTCGTTCT GTGCCTGTGTTAGAAATCAATAACTGTGAGTTTAACTCTAGTCCCACCCC CATCTGATTGCAAACATGGAAAGTTGCTAAATACTTTGGTACCTCTGTCT TCCAACTTTAACCAAATGTTAAAATACCCATTTCTGTTTTCCTAGAAGTA CAGGAAGGATGAAATTATTTTTGATGGAGAGAGCATTTAGTGTCTCAGAG AGAAGACAGGACATCATTCATCACTTTCATGACGGTGAGCCTATAGATCT TACTGTATTTCTTCTGTCGGTTGGCCAGGAAGCCGGCCAGTTGAGTTAGA AAACATCTCTCTTTGAGGTTTCCGAACTGCTGTTTGTTCTCTGCCAACTG GGGGCGCAATTTCTCGTTGATTTCTAGAATGTTCATCTCTGCCTTCTCGC TGGACCAAGGGCCGGCTGATACCACCATGCTGACGTTTGTGGCAGAAGAG GTGGGGCCAGGGACTGGGGAGAAGAAACCCAAACATATGATGGGTTAAAA ACTGGTGAAATCAAATAGGTTTAATCAGGACTGAGGGATGTCAGTAACTG AAATTCTTACCTTACTGTTGTGAAAAATGTGATCACTCCCACAGCACTTT AGGATCCTTCACCACAAAAACAAGGTTTGAGGTGCCTCAACTCAGAGCTG AAAGCACTGCCAGTAGCTCAGACTCTGATAAGAGTGAGGTAGATTGTGGC CAGCGTGCCAGGTAACCGTCTGCAGTTGCAATAACAGAATTAGAAGGTGG GGGTGTCATGGAATCTTAGGAGCCCTGCATTCCAATTGCCCAGGCTTTGC TGAAACACAGGCACCCTAGTCTCACCTGAGGGTCACCACCAATGGGGATC ATTCCTTCAGCATTCACTCTCAGTATTCGTGTACCCTTGTGACAATGCCA CAGACCCGTGTCTTTCCCAATACATCTAAGCATATTCCTCACTGTTTATC TCTTGTCTGTACAACATCATCAAGGCAGAAACAGTTTCCCAACAGGTTAT ATTTTCTTAATGGTAGTCATGAAGTCATAAATAAAAAAATGGAATCATTT AGTATGTTCTCTTGTTTTGACTTTTTTTTTTTTTTTGAGACAGAGTCTCA CTCTGTCGCCCAGGCTGGAGTGCAGTGACGCGATCTAGGCTCACTGCAAG CTCTGCCTCCCAGGTTCACGCTATTCTCCTGCCTCAGACTCCCAAGTAGC TGGGAATACAGGCGCCCGCCACCACGCCTGGCTAATTTTTCTTTTCTTTT TTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTG TGTTAGCCACGATGGTCTCGATCTCCTGACCTCGTGATCTG	C C	exon_loss_variant exon_loss_variant	HIGH	NA19005.hp2 NA19005.hp2	a0020 a0020	a0020c0023 a0020c0023	a0020c0023t0075 a0020c0023t0075	a0020c0023t0075g0225 a0020c0023t0075g0225	1	344	0.0029	-1690	c.-19 others(16): Show c.-194-622_175+602del		NBPF9	ENSG00000269713.9	transcript	ENST00000698832.1	protein_coding	7/30						chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1888157	GGGTTGCG others(1681): Show GGGTTGCGAGGAGACAGTGAGTGGGGTGAGGGTTTGCGAGGAGACACTTA GTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGTGGTGAGGGTTGCGAGGA GATGCTGAGTGGGGCTGTAGGTTCTGAGGAGGGGTGGGGTGAGGGTTTGT GAGGATATGCTGAGTGGGATGTTGACTGTGAGGAGACACTGAGTGGGGTG AGGGTTGTGAGGAGATACTGAGGTGATAGTTTTGAGGAGACAGTGGGGTG AGAGTTGTGAGGAGACACTGAGTGTGGAGGGCTGTGAGGAGGCACTGAGT GGGGTGAGGGGTATTGAGGAGACACTGAGTGGGGTAAGAAGTCTGTGGAG ATACTGAGTGGGGTGAGGGGTCTGTGAGGAGACGCTGAGTGGGGTGAGGT ATGGGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGTGTCACTGAGT GTGGTGAGGTTTGTGAGGAAACACAGAGTGTGGTAAGGGTCCTGAGGAAA CACTGAGTTGGGTGAGGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTT GTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGG TGAGGTTTGTGAGGAGACACTGAGTGGGGTGAGTATTGTGAGGAGACACT GAGTGGGGTGAGAGTTATGAGGAGACACTGAATAGGGTGAGGTTTGTGAG GAGACACTGAGTGGGGTGAGAGTTATGAGGAGACACTGAGTTGGGTGAGG GTTGTGAGGAGACAGTGGGGTGAGGGGTCTGTGACGAGACACTGAGTGGG GTGAGGGGTCTGCGAGGAGACACTGAGGTGTGAGGGGTCTACAAGGAGTC ACGGAGTGCAGTGAGAGTTGTGAGGAAACATGGAGTGGGGTGCGGGTCAT GAGGAGACAGTGATTGGGGTGAGGGGTCCGTGAGGAGACACTGAGTGGGG TGTGAGGGGTCTGTGAGGAGACACTGTGAGTGGGGTGAGGGTTGTGAGGA GACGCTGAGTTGGGGGGTTGTGAGGAGAGCGTGGGGTGAGGTTTATTAGG AGACACTGAATGGGGTGAGGGTTGTGAGGAGACATTGAGTGGGATGAGAG GTGTGAGGAGACACTGAATGTGGTGAGGGTTTGTGAGGAGATACTGCATG GGGTGAGCTTTCTTAGGAGACACTGAGTGGGTAAGAGTTGTGAGGAGACA CTGAGTGGGGTGAGGGGTATGTGAGGAGACAGTGATGTGAGGCATCTGTG AGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGACACTGAGTGGGGT GAGGGGTCTGTGAGGAGACACTGAGTGGGGTGAGGGGTCTGTGAGGAGAC ACTGAGTGGGGTGAGGGGTATTGAGGAGACACTGAGTAGGGTAAGGAGTC TGTGTGGAGACACTGAGTGGGGTGAGGGGTTTGTGAGGAGACACTGAGTG TGGGTGAGGGGTCTGTGAGGAGTCATGGAGTGTGGTGTGAGTTGTGAGAA AACTCGGAGTGGGGTGAGGGTCGTGAGGAAACAGTGGGGTGAAGGTTTGT GAGGAGACCCTGAGTGGAGTGAGGGTTGCGAGGAGACATTGAGTGGGATG AGGGTTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGCAGACACTTC ATGGGAGGAGGGTTTGTGAGAAGACACTAGGTGGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0206 a0001c0002t0020g0206	1	363	0.0028	-1688	c.118 others(19): Show c.1182+2455_1183-3720del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ZC3H7A_chr16_11745597_11802258	11772152	ACCACTGC others(1681): Show ACCACTGCACACCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAA AAAAAAGAATTTGCACCATTAAAGAGGAATTGTGGGATATATGTGGTGTA GCAGGAGGATAGGTGATCCAGAGACGGGAGCTGGAGAAGCCCATGAAGAT TGAGACAACCTCTCTGGAGGTGTGAACTTACAACTGGACAAGAACATACA ACTCTAACTTCCCCAGGCCCCATCAAAGCTGCAACTCACTGAGAGCTTCC ACGCACCTTACGTTATGGTATCATATGCTATCTATTTGGTTCTTAAAACA GCTCTCTCAGATACATCCTACTGTGATCACCATCATACAGATGAGGAAAA TGATGCACTATGATGAAGTAACTTGCCCAGTATCACAGAGCTGGTAAGAA TCAAAGCCAGCTCTGTCAGTCTTTTGCACACTGACACCATCTATTACACC ACCCCTGGAAAACAGCTCGGAATTTCTCCCTATCATCACCATCATCCTAC CACTGCTGCTACTGATTTATTTTACTTTATGGGAGGGGTCAGAGAAGTCT TTTTTTTTTTTTTGAGACAGAGTATTGATCTGTCACCCAGGGTGGAGTGC AGTGGCATGATCTTGGTTCACTGCAATCTCCACCTCCCGGGCTCAAGTGA TTCTCTTGCCTCAGCCACCCAAGTAGCTGCGATTACAGATATGCACCACC ATGCCCAGCTAATTTTTGTGATTTTTGGTAGAGGCAGGGTTTTGCCATAC TGGCTAGGCTGGTCTCGAACTCCTGGTGATCTGCCTGCCTCAGCCTCCCA AAGTGCTGTGATTACAGGTGTGCGCCACTGCACCCAGCAGAAAAGGCTTT CTATACAGGGATGGACACTAAGTATTTTAGGCTCTGTAGGCCACACGGTC CCTGTTGCAAGGACTCAACTATGCTGTTGCAGTGCAAAAGCAGCCACAGA CAGCACATAAAATGAATAGTCACTGATGTGTTCCAGTAAAACTTTACTTA CGGACCCAGAAATTGGAATGTCATATAATTTTATTGATTGACTGATTGAG ACAGGGTCTCGCTGTGTTGCCCAGGCTAGAGTGCATGGCACAATCAGTGC TCACTGCAGCCTCAACCTCCTGGGCGCAAGTGATCCTCTACCCTCAGCCT TCCAAGCAGTGGGACCACAGGCACGCACCACTATGCCAGGCTGTTTTTAA TTTTTTGTAGAGATGTGCCCTTGCTATGGTTACCCAGGCTAGTTTCATAT AATCTCCATATGTCACAAAATATTATTCTCTTTTTTGTTCTTCTCTCAAC CATTTAAGAATTGTAAAAAATATTCTTAGTTTGCAAGCCATACAAAAACA GGTAATAGGCCAGATTTAGCCTGTGGGCTACAGTTGGCTGAACCCCGCTT TAAAGTATGTGGTTGCTAGAGGATTATCTTTAAGAATAAGAAGTCCTGAG GCCGGGCATGGTAGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCACGAGGTCAGGAGATCAAGACCATTCTGGCTAAGGCAGT GAAACCCCATCTTTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGC GGGCGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATGGTGT GAACCCGGGAGGCGGAGCTTACAGTGAGCCAAGACTGCG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02055.hp1 HG02109.hp1 others(4): Show HG01169.hp1 HG02055.hp1 HG02109.hp1 HG02970.hp2 HG02976.hp2 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0263 a0001c0001t0001g0264 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0296	7	390	0.0180	-1688	c.903 others(16): Show c.903+396_904-1166del		ZC3H7A	ENSG00000122299.12	transcript	ENST00000355758.9	protein_coding	9/22						chr16	TogoVar
ZNF883_chr9_112983129_113017192	113015506	TTCTCAGC others(1679): Show TTCTCAGCAAACTATCTCAAGGACAAAAAACCAAACACCGCATGTTCTCA CTCATAGGTGGGAATCGAACAATGAGAATACTTGGACACAGGAAGGGGAA CATCACACACTGGGGCCTGTCATGGGGTGGGGCGGGGAGGGATAGCATTA GGAGATATACCTAATGTAAATGACGAGTTAATGGGTGCAGCACACCAACA TGGCACATGTATACATATGTAACAAATCTGTACGTTGTGCACATGTATCC TAGAACTGAAAGTATAATAAAATGAAATAGCCTAACTATACTTTTAAAAA AAAAAAGTGCATTTGCCTCCCCTTTGCTCTTCTCTCTTTGCCCTTCTGTC ATGTGATGCCTTCCATCATGTAATGATATAGCAAAAAGGGCCTATCTAGA TGCTGAAACTTGGATATTGGACTTTCCATTTTCCAGAACTGTGAGACAAC AAATATCTGTTCATTATAAATGACCAAGTCTATCATATTCTGTTATAGCA GCACCAAATAGACTGACAGATGTTTTAACAATAGTAATTCTTCCAATTCA CAAATATAGGATGTCTTTCCATTTACATGTCTTTCAAAATTTCCCAATGT TGTGTAGTTTTCCATGTCTACGTCTTTTATTTCCTTTGATAAGTTTATTC TAAGTATTTTATTCTTTTTGATGCTATTGTAAATGGAATTGTTTTCTTAA TTTCCTTTTTGAATAGATTATTGTTAGTGTATAGAAACACAACTGATTTT TACATGTCGATTTTGTATCCTGCAAGTTTTTTTATATCCTGCAAATTCAG TAAAGAATTTGCTTGTTAATTCTAAGAATTTTTTGTAGACTTCTTAAAGT TTTCTATATATGGGCATACCTTATTTACTGTGCTTCACTTTATTACACTT AGCAGATAATGCATTTTTACAAATTGAAGGTTTGTGGCAACCTGCACTGA GCAAGGCTATCGGTACCGTTATTCCAACAGTATGTGCTTGCTTGATGTCT CTGTGTCACATTTGGGTAATTCTCACAATATTCCAAAGTTCTTCATTATT ATTATATCTGTTATGGTGATCTCTGGTCAGCAATTATGGATGTTATTATT GTGATTGTTTTGGAGTGCCACAGACCATGCACATATAAGACAGCCAACCT AATCAATGTTGTGTGTGTTCTGACTGCTTCACCTACTGGCCATTCTGCCA TCTCTTTTTCTCTCCTTGGGCCTTTCTATTCCCTGAGATAAAACAATATT GATTAATTAGGCCAATTAATAACTCTATAATGGCCTGTAAGTGTTTAAGT GAAAGGAAAAGTCACACATCTCTCCCTTTAAATCAAAAGCTAAGCCAGGT GTGGTAGCTCATGCCTATAATCCCAGCACTTTGGGAGTCAGAGGCAGGAG GGTCACTTGAGTCCAGGAGTTTGAGACCACCCTAAGCAACACAGTAATAT CCTGTCTACAAAAATTGTTAACAATTTTTTTTTTGAGACAGAGTCTCACT CTATTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCACTGCAAGCT CCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCAGGTAGCTG GGACTACAGGCGACCGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01256.hp1 HG02074.hp2 others(25): Show HG00621.hp1 HG01256.hp1 HG02074.hp2 HG03490.hp1 HG03491.hp1 HG03669.hp2 HG04115.hp2 NA18941.hp2 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18957.hp2 NA18966.hp1 NA18975.hp2 NA18983.hp2 NA18985.hp2 NA18990.hp1 NA19000.hp2 NA19001.hp2 NA19012.hp2 NA19060.hp2 NA19076.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0019 a0001c0001t0023 others(6): Show a0001c0001t0008 a0001c0001t0019 a0001c0001t0023 a0001c0001t0031 a0001c0001t0042 a0001c0001t0078 a0001c0001t0080 a0001c0001t0085 a0001c0001t0095	a0001c0001t0008g0009 a0001c0001t0008g0052 a0001c0001t0008g0106 others(13): Show a0001c0001t0008g0009 a0001c0001t0008g0052 a0001c0001t0008g0106 a0001c0001t0008g0162 a0001c0001t0008g0163 a0001c0001t0008g0221 a0001c0001t0019g0032 a0001c0001t0019g0204 a0001c0001t0019g0205 a0001c0001t0023g0167 a0001c0001t0031g0028 a0001c0001t0042g0053 a0001c0001t0078g0165 a0001c0001t0080g0166 a0001c0001t0085g0168 a0001c0001t0095g0164	28	446	0.0628	-1686	c.-62 others(11): Show c.-6239_-4554del		ZNF883	ENSG00000228623.9	transcript	ENST00000639662.2	protein_coding					3315		chr9	TogoVar
RPTOR_chr17_80539838_80971368	80720778	TCTGCTTC others(1678): Show TCTGCTTCTGTGGCCGTGGGTGGGGCCTGACGATTTGGCTTTCTTGGGTG TCCCACAAAATTGCTGCTGCGGCCGCTTCTGCTGCTGTCTGGGTTGTCTG CCTTTGAGAACCCCTGGTATGGACAGTGTGGTGTGAGAGGCAAGCAGGAT ATTCATCTTATGGTTTGGGGTCACTCTGCTTCTTACGTGTCGGGAGAGAC ACTTCCCCGACCCCTTGTTTTCCATCTCTAATTTTAGCCGTCTAGGGCAG AAACAGTCCCGGGTAAACACCAAGGCCTCGTGGGAGGCACCTAGGAGGTG AGGAGGGGCTACGTCTGCCGGGTCTCCAAGCAGGAGTGAGAACCAGCTAG ACAAGGGGAGGCCTGGGAGTGCGAGGGGGCTCTGGTGACAGGAAGTAGTC CCCTCTGACCCGGTGACACCGTGGGGAGCAGGTGATGTGGTTCCAGTGCT CTGTCATCCTGGGGTCAGTAGGATGAAAGATGTCGTAGCAGCACAGGCAG CACTGTGGAAACTGTTCTCACGACTGTGAGTCATTGAGGCTCCTGGACGC GGCGGAAGTGCAAGCGGGAAAAAGGATGGCAAGTTGAGTAACCTCAGGGG TAAGCAAGGAGGTGTGAGAATCACTCACTTCCTCGGCAGGGCCTGCACGC ACCTGGTGCAGGAGCAGCAGAAGCCATGCTGGCTCTTCCTGCTGCGTGTG CATCTGGCCCTGGAAAGAGGCACACCCAGCAGCGGGCTCTCCTGGCTCAC CCGGGGCCGTCAGGGCGCTGCAGTTTGCAGGAGCATCCTTTGGGCTCTTA CCTCAGTCGGTGGGGCTGGGCAGCTGGGTGTCTCCAGCCCATCATGCTGG AACATGCTGGAAGCTTCCTCAGGGTACTCGGGCTTATTTTGGTAGTCATA CACATGAAATGCACTTTGGGGGAGAAGGATGAAATATTTTGGTTAATCCA CTGAAAAAATGAATGTTGAGGAACACAGCCAGCTTTCCTGTTATTTATTA ATAGGCTTAAGATAGCCAGAAGGACATTTCTGCTAGAAAGTTATTGCCAG CTGAAAAAGAACAAGTCTTCATTATTATCCAATTTGGTATATATATATAT ATTTCAGGTTTTTATGAAGCTAAGGGCAAAGGTCAGCTGCTTCCTATTCC TTGTGGATTGTGCTGCTGATGGGAACTTCCTTTGACTTCACAAATACAAG GGATTGGAAGTGCATTCTTTGTTATCTCATATGTAAGATGAGGCTTTTAA CACGATTTTCTTTTAGTTAATTTTAAAATATTTTATTATAAAATTCATTT TTTTTCAAATGGTGCAGATAAGCATAAAATAAACAATAAAAGTTCTTCCT TTCCTTCCCTCCAAGCCTTTGTGTGGCACGTTCTTGGCATGTTGCAAAGT GCCGTCATCATCATCATCATCATTGAGTTTGGAAGAGGAAATGATAAGTT TTATTTTTCCCTTCTCAAATTTTTGAATTTGAGGTGTCACAGGCAATCAA ATGAAAATAACCAACTCTCTGTAGAGGTGGTAGTTGCAGCTGAACATTTT TGGGACTTCAATGTTTAGGCAGTATTTAAAACCAGGGAGTTATATTTGAT TGCCTGGGAGAAGATGTGGAATAAGAAGAATGGAATAGGCCCCTGACGAT AAGTTTTTAAGGGGAGGGTGGAAGGGAGGGGTCCCA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG03516.hp1 HG02630.hp2 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0021 a0001c0005 a0001c0009 a0001c0021	a0001c0005t0083 a0001c0009t0006 a0001c0021t0065 a0001c0005t0083 a0001c0009t0006 a0001c0021t0065	a0001c0005t0083g0017 a0001c0009t0006g0142 a0001c0021t0065g0112 a0001c0005t0083g0017 a0001c0009t0006g0142 a0001c0021t0065g0112	3	196	0.0153	-1685	c.508 others(17): Show c.508-9781_508-8097del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33						chr17	TogoVar
DPH7_chr9_137549444_137583925	137565630	ACTCTGTC others(1677): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	340	0.0029	-1684	c.641 others(16): Show c.641-2160_641-477del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
TEF_chr22_41376942_41404326	41378673	CGTTGGCC others(1677): Show CGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCT CAGCCTCCCAAAGTGCTGGGATTACATGGGTGAGCCACCACGCCCAGCCC TGTATTGGTTTAATCAGTTTCCTTGGAATGTCCTTTGTCTAGGTTAGCTT CCCCTAAAGGTGTTTAAGTTTCGCCACACACAGAATTCTCACTAACAATT CTACAACACAACAAATTTTCTGTACACAATTAACTATTTTCACTACAGAG AGTGACACAGGCACCACACTAACCTCTGGGATAATGGATATGCCAACCAG TTTTAGTAAAATTATGAAAACTAAATTTGTTGAAGGTTTGCAACTGTGCG CCTACGCAAATTGGCTCACAGAAACCCCGTAAGGTAGGCCAGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGACGCGGGTGGATCACCTGA GGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTAAAACCCCGTCTCTA TAGAAAATACAAAAAATTAGGCGGGCACGGTGGCGGGCTCCTGTAGTCCC AGCTACTCCGGAGGCTGAGGCAGGAGAATGGCGGGAAGCCGGGAGGCAGC GCTTGCAGTGAACCGAGATCCCGCCATTTGCACTCCAGCCTGGGCTACAG AGTGAGACTCTGTCTCGGAAAAAAGAAAAAAAAAATTAGCCGTACGTGGT GGTGCACGCCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCG CTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCGCCATTGCA CTCCAGCCTGGGCAACAAGGGCAAAACTCCGTCTCAAAAACAAAAAACAA AAAACAAAAACACCATAAGGTAGAGCCTGCCCTAACTCCATTTGGCATAA AAGGAAAAAACGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGATGCCGAGGCGGGTGGATCACCGGAGGTCAGGAGTTCGAGACCAGCC TGACCAACATGGAGAAACCCCGTCTCTACCAAAAATACAAAATTAACCCC GTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGACGCATGCCTGTA ATCCCAGCTATTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAG GCGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCA ACAACAGCAAAACTCCGTCTCAAAAAAAAAAAAAAGAAAAAAAGAAAAGA AAAGAAAAGAAAATAAAAAGAAAAGGAGGCCTGAAAAGGTAAAGCAATCG AGGCATCAGATTCAGAAAATGACTGAGGTTCAATTACAGTGGCAGTGAGA GCTTGAATTTTGGAATCAGACCTATCATCCTGTCTCTACCACCACCCAAA GTCCTTCAAATCTCTTGCTTTCCAGGCCTGGTCAGCTACCCAACTTCTTT TTCCTCCTTACCCCGCCGCAAAATTATTTTTATTTATTTATTTTTTTGAC ATGGAGTCTCCCTCTGTCGCCCAGGCTTGACTGCAGTGGCGCGATCTCGG CTCCCTGAAACCTCCACCTCCCAGGTTCAAACCGATTCTCGTGCCTCAGC TTCCCCAGTACCTGGGATTACAGGCGCCAGCCACCATGCCCGTCTAATTA TTTCTGTACTTACAGTAGTGTCGGAGTTTCGCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	386	0.0026	-1684	c.-33 others(11): Show c.-3371_-1688del		TEF	ENSG00000167074.15	transcript	ENST00000266304.9	protein_coding					3268		chr22	TogoVar
ADARB2_chr10_1172313_1742525	1235528	CCCGGTGT others(1676): Show CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTAC TCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGA TTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGC CAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTG ATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTG TGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGA AAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGG AGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTG GGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCA AAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCC ATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTT ACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCT GCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGAT GGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGC TGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCC TGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTA ATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAAC TCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTC CCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0039 a0004c0005t0002g0039	1	106	0.0094	-1683	c.136 others(19): Show c.1362-3366_1362-1684del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144624617	GGTTCACG others(1676): Show GGTTCACGGAGCACTCACTGCACACTGCGGCATCCCCTGTCCCGGCGGCC CGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGC CCGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGG CCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCG GCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGC GGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGG CGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCG GCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCC GGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGT CCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCT GTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCC TGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCC CTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCC CCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCATC CCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGGCAG CCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCA GCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGC AGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGCACACTGCGG CAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCG GCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACACTGC GGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTG CGGCAGCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACTGCACACT GCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACAC TGCGGCAGCCCCTGTCCCCGCGGCCCCGTTCACGGAGCACTCACTGCACA CTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCAC ACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCA CACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACTCACTGC ACACTGCGGCAGCCCCTGTCCCGGCGGCCCCGTTCACGGAGCACCCACTG CACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACCCACT GCACACTGCGGCATCCCCTGTCCCGGCGGCCCGGTTCACGGAGCACTCAC TGCACACTGCGGCAGCCCCTGTCCCCGCGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0182 a0001c0006t0001g0182	1	246	0.0041	-1683	c.-81 others(19): Show c.-81-20605_-81-18923del		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11						chr8	TogoVar
HIP1_chr7_75528298_75743941	75706463	TATATATC others(1676): Show TATATATCTTCTTTTTTTTTATTTTTTTTTTATTTTTTTATTTTTTATTT ATTTATTTATTTTATTATACTTCAAGTTCTAGGGTACATGTGCACAACGT GCAAGTTTGATACATAGGTATACACGTGCCATGTTGGTTTCCTACACCCA TCAACTCGTCATTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTC CCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACT GAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACT CATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATT TTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTT TGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAT AGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCT GGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGA CTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTG TTCCTGTTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA ATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGAT TTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTT TGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCC CACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTC ATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAA TTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAAAGTTCATA TGGAACCAAAAAAGAGCCCGCATCGCCAAGTCAATCCTAAGCCAAAAGAA CAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTA CAGTAACCAAAACAGTATGGTACTGGTACCAAAACAGAGATATAGATCAA TGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCT GATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTAT TTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAA CTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAA AGATTTATACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAG GCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACA CCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAA ACTAAAGAGCTTCTGCACAGCAAAAGAAACTACC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG02976.hp2 others(3): Show HG02145.hp2 HG02630.hp2 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0003 a0001c0001t0004 a0001c0002t0004 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0004 a0001c0002t0011 a0004c0008t0019	a0001c0001t0003g0099 a0001c0001t0003g0162 a0001c0001t0004g0100 others(3): Show a0001c0001t0003g0099 a0001c0001t0003g0162 a0001c0001t0004g0100 a0001c0002t0004g0103 a0001c0002t0011g0102 a0004c0008t0019g0101	6	254	0.0236	-1683	c.120 others(19): Show c.120+30655_120+32337del		HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30						chr7	TogoVar
NEDD4L_chr18_58039226_58406539	58117787	GCAGCAGC others(1676): Show GCAGCAGCTGCCACAGTGTCTTTGTAGTCACACTACACACCTATATACTC CATGACATGGAGTGTATAGAATGTTTCCCGTCTTCCTCGTCAGTGCTGCC AGGAGAAGCTTCCCCTCTCCTAACCTCTGGATAGTGGCTGGCTCTGCTTT ATTCAGGCATTGCTTTCATTTTTTAGAACAGCTGCTCCAGTATGCTTAGT GTGAATGACAGCCCAGCAGAAAGAATGGACTTGACACTGGAGACTGCACC ACTCCACATTTCTTTGTCCCCTCAAGATGACTTAACTAGCTCCCTTCCCT TTTCCTTCATGCAATAGCCTCAGAAGTTCGGCTGGCATTGCCAAGTTGTT AGAGTGAACCTTAACCTGTGTATGACTCAGAATTCACATCTGCTGTGTCA GTGAACACACAGATCTCTTTGTGAACACATGGTTATCAAGAGGCACATGC TCTTACGTATCCTGCCGGATTCTGGTAAGGCGCTGCTTGCGCAGTAAGCA CTTGTCAGGTGCTTATGATGCCTGTGACGTGAGGCTGTGGATGCAGAATT TGTGGTCTGAACATTTTTGAGTAGATAAAAATGGAAACTGAAATTGGTGA AGCAGACTTGTGGCTTTTCCTACTTTCTCATCTCTTTTATGGATATAACT AGAAGCTCTGCTTCATCAATGAGTGTGTTAAAACAATTTGTTTACAAAAT CCTATTTATTAAAATAAAAATCTGAAAGAACTGCGCTGCTGCTTTTCAGT GCTCGCCACTCTAGGAACCTGTATTCCTCCTCTTGTTCATCCTCCCTTTT CTTCTTTTTTGTTTTGTTGTTGTTTGTGTGTATGTATGTGTCTGTGTGTG TGTGGCGGGGTGGTGGGGGCGGTGTTGCCAAATCTTTTGCACTGAATCTT TGAAGATGTCCTGAAATACTTACCAAATCACTAGAGCGAAGAGAAGCCCA TCTGATTTCTTCATCTCCCAGCTGAGGAAGGACACACTTTCTCCCACTCT CCAGTGAAGGCCCCTGTGTCCTGTGGGTGGGGGAGCTGACATCACACTCA GTGCTGACATTTCTTGTTCCCTGGGTGGGCGCTGATTCCAGATCCTCTTC AGCCCCCCAAGCGGAACTGGGTTTCTCTTGAAGGTCCTAACCTCAGCTCA CACCACCTGCTACTACCTTTCTGGGTCTTGGATTTTGTTGTTACCCAGGC CCGGGGTCATCCCAAAGGCTCTTGATAGCCCTGTGGCTGTGCTTGCTAAT ACACTGTCCTCATCTTTTGTCAGCGAAGTAAATCCAATAATGTTTCCTTC TCTTTAATCCAAGCCAGTCTTCATTGAAAACACTTCACCTCTAAGCTCTC AGGCTCTGCAGTCTGCCCTCTCCAACCTTACCCCTCATGCCCCACCTTCC CTTTGTCCCCATCTTTCCCTTCTGTTCCAGTCATTCTCATGGGCCATGGA GAGTGGAAGCCTGGGAGGGCTTTGCCAAAGTCCAGTTGCCTGCTCACTTT CCTAAGGGCCAGAGCAATGGGGGAGGTGGGGGAGGTGTGGGCACCTGTAT ACATTTGTGTTGAAAAAGGTACCCAGGCTATTCTGAGGTCCTTTTCTGCC CCCAGCCTGGTTTCTGGGCCTCCCTGGAGTCTCTCTTTCTGGCATTTGTG TTCTGGAATCGCTTATCAGCCTGGACTCCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	118	0.0085	-1683	c.49- others(17): Show c.49-47977_49-46295del		NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr18	TogoVar
YIPF4_chr2_32272904_32321594	32315724	GGCAAGAC others(1676): Show GGCAAGACTCCGTCTCAAAAAAAAAAAGAAAAATATAAAGCTGGATCTAT ACCTCACTCCTTATACCAAAGTACATTACCCTTGTATCAAATATTTTAAA AACTGGAATAAGCTTTTCATATAATCTTTGAGAAGATGGGGCTTTCAAAG CGTTAAATGAAACACAGAAGCCATGGCCAGGCACGGTGGCTCATGCCTGT AATCCCAGCTCTCAGGGAGGCAAGAGGCAGGAGCATAGCTTGAGCCCAGG CGTTCAAGACCTGCCTGGGCAATATAGCGAGACCCCGTTCTCCCCAAAAA GGAAAAAAAAAAAAAAACCAAAAAAAAAAAAAAAGTATAAAGCACAGAAG CGAAAGGAAAAGTGATGAAGACACTTGAAGACCTGTCATTTAAAATGATT CTACAGGAAAAAGATGAACTACAAATTGGGGAAAAATATTTGTAGGACTT ATGTAGACAAAGGACTAATTTTCTTAATAAAAACATTTATCAGTAAATTT AAATGGGCAAAGGAAATACTTGGACAATCATATCATGTATGTAATATTAA TATTTATAAATCAATAAAATGGGCTAGGGATATAAATCAGCAATTCAAGG GGAGGGTAAAAAGACCAACTAATATATGTAAAGATGCACAAATTCATTCA TGATTAAATGTGAATTAACAACGTTGGCCTCTCGGATTCCCAAAACTTTA AAAGATTAATAATATCCAGTATTGGTTGGGATTATAAGCAGATATGATAT TTCACTGATAGAGACCAGCATGACTGTCTCAATTGTTAAACTATTGAAAT GCATCTGTGTCAATGGTAAATAGTATTATTGTAAGTACAACACTAAAATT AATAAATTGTGTAAATTCTAATATGGATTAATTTGTCTTTTGTGACAACT ATTGATAACCTCTTTGTTGTAATGACACCTAAGAAACATTTGTAACATCT GCTAGCTTGGCCTGCATCTTGGTAAATAATGTAGCTGCATTATGTATTAC CTATGAAGCATTCCTTGCTGTAACAGTTGCTACTGCTTTTAAATACTTTT AGTCTAGTTTTTTTTTTTTTTTTTCAAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGATGTGATCTCGGCTCACTGCAACCTCCGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCTTGTGCCACCATGCCCAGTTAATTTTTGTATTTTTGGTAGAGACAGGG TTTCACCATGTTGGCCAGGTGGTCTCTGTCTCTTGACCTCGTAATCTGCC CACCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCC GCCCTAGTCTAGTTTTTTATTTGGTTTTACTGTTAGTGCGTTGTAATTCT TAGGTAAAAAGTAAGTAAAGTGGCTGGGCACAGTGGTTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGTGCACCGATCATGAGGTCAGGAGATTG AGACCATCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAATACAAAA AATTAGCCGAGTGTGGTGATGTGCACCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGAGAATTGCTTGAACCTGGGAGGCGGAGATTGCAGTGAGCCG AGATCGCACCACTGCACTCCAGCCTGGTGACAGA	G G	splice_region_variant splice_region_variant	LOW	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0117 a0001c0001t0086g0117	1	398	0.0025	-1683	c.10 others(13): Show c.10099_*11781del		YIPF4	ENSG00000119820.11	transcript	ENST00000238831.9	protein_coding	6/6						chr2	TogoVar
DPH7_chr9_137549444_137583925	137566634	TCTGTCTG others(1675): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCT CCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	340	0.0029	-1682	c.641 others(17): Show c.641-3162_641-1481del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
RHOD_chr11_67051847_67077017	67075336	AACAGAGC others(1674): Show AACAGAGCGAGACTCTGTCTCAAAAAAAAAAATAAATAAATAAATAAAAG AAAAAAGAAAAGACCCACTTATGTGCTTAGTGCTGTGCTTAGTCATTTTC CATGAAGTATCCCATTTAGTAGTCACAGGCCCCAGTGAGCTAGGACCAGG TACACACCCACCTCACAGATGAGGAGGCGGAAGCACAGAGGGCTCGGTCA AATGCTCATGACCTCAAGAAGTAGCAGGGCCGCAGCTGGACGTGGTGGCT CAAGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTAGATCATGAG GTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTAC AAAAAATACAAAAATAGCCAGGTGTGGCAGTGTGTGCCTGTAATCCCAGC TACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAGGT TGCAGTGAGCCTAGACTGTGCCATTGCACTCCAACGTGGGTGACAGAGCA AGACTCCGTCTCTAAAAAAAAAAAAAAGAAGAAGAAGTAGCAGAGCCAAG GTTTAAGCCCAGGACAGTCTGACTGTCCAGAATCTTGGCTGTCAGCCACT ACACTGGACCCCTGTCCTGAGTCACCTCTTCCCCAGACCCCCAGCCCTGG ACCCCTGCTTTGTACCAGTATTTCCAGACCCCAAGGAGCTCAGAGTTTAC AGAGACAAGAAGGCCTAGAATTGTCTTTCAGGGATTGGGGGCAACATGGC AGGTGCAAGGCTGTGAAGACCACGTGGTTTGACCCAGACACCAGCAGAGC TACAGCTCACAGAAGTCCCGCTGAAGCAGGCTGAGCAGCACCTGAGGATC CCAGCAGAAGGAACAGGTGCTGGGATTTATTGGGTTCCCACCCCATGCCA GACGCTTGATTGATGAGATGCCATTATTAGACCCATTTCAGAGAAGAAAA TAAGGCTCAAAGCAGGAGAGTGGTCTGTGTAGGGTCATGTGGCCAGAGGT AGGGCTGAAGTTCAGCTCAGCCTCTCATGGCACTTCACTGAGGACACGTG CTGGGAGATCAAGGTCAGTGAGGAACCGAGCTCTGTGGGCAAAAGAGAAA CAGGATGGTCTGGGGAGCTGAAAGATCCAGTGGTGTGCAGAAGTTGGGGA GAGGCATCTGGGGCCACCAAATAAGAGGAGGGAAGTCGGCACCTGCCTGC TGTGCGGGGGAGAGAGTTCCTGGGAGAGACAGTGGGACTCAGGAGCACAC ACATCGGACTTTCCTTCCCTGCCAAGGGCTGCCCTCCTCTCCTTCTTTGA GAGCTCATCACCACCTGAAATGGTCCTGTCTGTCTCCCCATGGTCATGCC AGCTCTCTGAGAGCACAGGCTGGGCTTGTTGCAATCTCCTGTGCCAGCCG GGCGCAGTGGCTCATGTCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGA GTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGA AATCCCGTATCTACTAAAAATAGAAAAAATTAGCCGAGCGTCGTGGCAGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTTCTTGAA CCCCAGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAA	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0002 a0005c0008t0001g0002	1	394	0.0025	-1681	c.37 others(11): Show c.3735_*5415del		RHOD	ENSG00000173156.7	transcript	ENST00000308831.7	protein_coding					3320		chr11	TogoVar
ASMTL_chrX_1398139_1457909	1408124	GCAGGAGG others(1673): 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 GGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp1 others(9): Show HG00099.hp2 HG00323.hp1 HG00639.hp1 HG01081.hp1 HG01192.hp2 HG01257.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 NA18970.hp1 NA18988.hp1	a0003 a0008 a0019 a0003 a0008 a0019	a0003c0002 a0003c0005 a0008c0018 others(1): Show a0003c0002 a0003c0005 a0008c0018 a0019c0021	a0003c0002t0001 a0003c0005t0001 a0008c0018t0001 others(1): Show a0003c0002t0001 a0003c0005t0001 a0008c0018t0001 a0019c0021t0001	a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0079 others(9): Show a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0079 a0003c0002t0001g0140 a0003c0002t0001g0144 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0090 a0003c0005t0001g0146 a0003c0005t0001g0179 a0008c0018t0001g0182 a0019c0021t0001g0101	12	185	0.0649	-1680	c.164 others(19): Show c.1645+2928_1645+4607del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408229	GCAGGAGG others(1673): 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 GGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0163 a0003c0002t0001g0163	1	185	0.0054	-1680	c.164 others(19): Show c.1645+2823_1645+4502del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
C1orf159_chr1_1076823_1121089	1077301	CGGGAGGC others(1673): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGC GGGGTGGCTGAGGCTATGGGGACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	326	0.0031	-1680	c.39 others(11): Show c.3912_*5591del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4521		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077301	CGGGAGGC others(1673): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTG AGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTG GGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGACGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGG GACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGC GGGGTGGCTGAGGCTATGGGGACTCCGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA18522.hp2 HG02622.hp1 NA18522.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0013 a0005c0007t0013	a0005c0007t0013g0056 a0005c0007t0013g0057 a0005c0007t0013g0056 a0005c0007t0013g0057	2	324	0.0062	-1680	c.-49 others(11): Show c.-4975_-3296del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2996		chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974553	GGCCCAGG others(1673): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATC GTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0125 a0002c0008t0002g0125	1	150	0.0067	-1680	c.532 others(19): Show c.532-46296_532-44617del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
LMNB1_chr5_126772136_126842020	126790294	AGGGGTTT others(1670): Show AGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGT GATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTAAGCCA CCACATCTGGTCTGCTGTGTTATTTTTAATTTGTGCAGAATGCAGGAGTT GTCAGAAGCAACATATGTTATAGCAGAAATACTTACATAGTCCCCAGCAG AACTCAGTAATATACTGTGATTAGTTTTTTTTGCCTATCACACCTTTTGA TCACCTATAAAAATAGTACTTTTTCCCACTTACTTTTTTGTATAATTATA TAGAGTCTATGCCAGTTGTTAGAACATCAAATCATTTAGGATCATTTTTA AATTAATTTTACCTCATTAAATAAAGAATTACCTTTGGGTACCTTGTGTT TTTCTACAGTCTAGTTGTATTGTATAAGCATTGATAGTTTGGGTATAGAA TTCTAGGTTGTAAATGCTATTTTCTTAGACTTTTGAAGGCATGTTTTGGC CGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGCAACCAGCCTGGCCAA CATTTGTACTCTACTAAAAGTACAAAAAATTAGCCGGTGTGGTGGTGGGT GCCTGTAATCCCAGCTACTCAGGAGGCCGAGGCAAGGGAATTGCTTGAAC CCGGGAGGTGGAGGTTGCAATGAGCCCAGGTCGCGCCATTGCACTCCAGC CTGAGCGACAAGAGCGAAACTCTGTCTCAATAAATAAATAAATAAACAAA TAAACAAATAAATAAATAAAATGAAGACGTGTTCTTTAGTTTTCTAGCTT TCATTGGCTGCAGAAGTAATGATGAGTGAAAAATTTAAAAGCTTGTAGGA TCTTCTTTTGATCCAGTTCTAAAATTTCACAGGGATGTTCCTTGTTGTAG ATCTCTTTTCATCCATTGTGTTGATCATCTGATTGAATTCTTTTGGTCTT GAAATTTATGTCCTTCAGTTGTTGGAAATTTTCTTGAGATTTTCTCCTCT TTTATTACCATATGAGACTCCTAGTATTCAAATGTTGGATCTCTTACATT GATCCTTTGGTTTTCTTCCCTTTTTTAAAAAATATTTTTTCTCTACTAAG AGATGTTCTCAATTTTGTTTTCCAATTTTTGCTATTGTATTTTAAATTTC TAATAGCTTCTTTTTATTCTGTCTCTTTTTTTTAAAGATAGGGTCTTACC CTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTACAGCCTCA ACCTCCTAGGCTCAAGTGATCCTCTCACCTTAGCCTCTGGAGTAGTTGGG ACTACTACTGGAGTAGTTGGGTGTGTGCCACTACACCTAGCTAATTTCTT GATTTTTTTCATAGAGACAGGGTCTTACTATGTTGCTGGTCTCAAACTCC TGAGCTCAAGTGGTCCTTCTGCCTCAGCCTCCCAAAGTGTTGGGATTACA GGTGTGAACCATCATGCCTAGCCTTTTTTATTCCCTTGATGTCTCTTTTT TTGTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGG TGCGATCTTGGCTCACTGCAACCTCTGCCTCCGTGTTCAAGTGATTCTCA TGCCCCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCACCATGACACCG GGCTGATTTTCGTATTTTTAGTAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02615.hp1 HG02630.hp1 HG00639.hp2 HG02615.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0242 a0001c0001t0001g0330 a0001c0001t0001g0331	3	374	0.0080	-1677	c.359 others(19): Show c.359+12435_360-12798del		LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
ABAT_chr16_8669617_8789570	8732191	TTTTTGTT others(1669): Show TTTTTGTTTTTTTTTTTTGTTTGTTTGTTTTTTTAATTTATTTATTTTTT ATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATA GGACAATAGTGGAGGGAAGGTCGGCAGATAAACAAGTGAACAAAGGTCTC TGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCC TGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCCTGCTGCC TTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTT AACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGGGGGTA AGGTCACAGATCAACAGGATCCCAAGGCAGAAGAAGTTTTCTTAGCACAG AACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCA ACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCA CAAAACCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTCGGGCACA CCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGAGGCCGGGCAGAGGCGCC CCTCACCTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATGCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCTGGCAGGGGGCTGATCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACGGGGTGGCTGCCAGGCGGAGACGCTCCTCACTTCCCAGA CGGGGCGGCTGCCGGGTGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCC GGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCCGGGAAGAGGT GGTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACT TTCCAGACTGGGCAGCCAGGCCGAGGGGCTCCTCACATCCCAGACGATGG GCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGC AGAGGCTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGG TGGAGGTTGTAGCAAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGCAC CATTGAGCACTGAGTGAACGAGACTCCGTCTGTAATCCCGGCACCTCGGG AGGCCGAGGCTGGCGGATCACTTGCGGTTAGGGGCTGGAGACCGGCCTGG CCAACACAGCGAAACCCCGTCTCCACCAAAACCAGTCAGGCGTGGCGGCG TGAGGCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCA GGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTC AGCATGAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGAGGGAGAGGGA ACTGAATCTTAATCTACTTTAGGTTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02257.hp1 others(4): Show HG01891.hp1 HG01891.hp2 HG02257.hp1 HG02451.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2	a0002 a0002	a0002c0007 a0002c0008 a0002c0009 others(1): Show a0002c0007 a0002c0008 a0002c0009 a0002c0012	a0002c0007t0018 a0002c0008t0002 a0002c0008t0003 others(2): Show a0002c0007t0018 a0002c0008t0002 a0002c0008t0003 a0002c0009t0002 a0002c0012t0002	a0002c0007t0018g0317 a0002c0008t0002g0013 a0002c0008t0003g0015 others(4): Show a0002c0007t0018g0317 a0002c0008t0002g0013 a0002c0008t0003g0015 a0002c0008t0003g0028 a0002c0009t0002g0003 a0002c0012t0002g0339 a0002c0012t0002g0346	7	362	0.0193	-1676	c.-41 others(17): Show c.-41-3507_-41-1832del		ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15						chr16	TogoVar
UGP2_chr2_63836896_63896560	63861180	AGGTTAAT others(1669): Show AGGTTAATGTTTTAAATTAGAGCAAGAAAGGACAAGCCAGCATATGTAGC TTATTTGACCATTTCATTGTTTTCCAGAGAGGTTATGAGAGTGTCTTGGT CTTGGCCAAGCTTACACGTTGGGCATGGACAGGGATGGGAAATAGATCAG AGTTACGAGGAAGTACGGGGCCTGTTCAAGAAGGTATTGGAGCTGACGAG TTCTCTTGAGCGCTAATTTAAAACCTGTTGAAGTCACATGGCTGGCACTG ACCCCTGGTGGTGATGTATTTTCATTTCTATACAAAATATTCTCTAAAGA AGGCTTTTTTACCAGCACAGGCAACATAGACCTCACCTCTACAAATTTTT TTTTTTTAGTTAGCTGTGCATGGTGGCATCTACCTGTAGTCCCAGCTACT TGGAAGGCTGAGGTAGGAAGATCACTTGAGCCCAGGAGTTTGAGGCTACA GTAAGCTATGATATCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGAT CCTGTCTCAAAAAAAAAAAAAAAACAAAAAAACGACTTTTTCATTTCAAT ATTTAATAGGATCAAAAGAGTGAAGGTATATTTGTGAACAGGGAGGAGTT ATGTAGGGTCATAGGGTAGAGAATTGGCATGAAGAGAATAGCATGCATCA ATGTGGTATTTAGCTCCAATGGATTTTTTGTTTTGTTCCATAAAATTGCT GAGACTTTTTCTTAGTCTATCAATACAAAAAACATTAAAAGCTATTGTTT ATTTATAAGGAAGTCTGAGGAAGTTACAGTTTATGTGTGCAGAGTACAGA TACATAGCATTTTTTTTTCTGAAGGTGAACCGTAGTACACTGTGCATTTA AAGTTTGCACATTAAAAGAAAAAAATCTTGAGGCAATCTGGCCAAGCATC TGATATAGTATGCCATATAGGATGATTTGCTTTGAGCATGTGAAGATTTC CCAGCTGCAACTAGCCAATGATAAAGCCATTAGAGACTTGTTTTGTGTGT ATGTGGAGATACACACACAAATGAGATTCTAAAAAGTATTCCACAAAAAG GAATTAGTGGCATTTAAAGAAATGGCTCTGAGGACATGGCTGAATACCAA AGAGTCTCATCATTTCTTTGACATAAAGTTTTAAAACAGTAATATATAGA AATACTGACACTAAGCAGACATACTAATTTAGCAAATATTGCCAAAGCTT CAACTTTTGATTTCATGATGAATTGAACAGTTTTTGAATTTCCCTCGGGA TTACCTTCCTTCACATTCCTTCGTGTACAGGACTTTCAGAAATGGGGACC TGATAAAGGAACTGACAACAAGCCCATGATTATTAATTCCATACTGGTTA CATGTCTATAATTTCACTTTAGAAATAGCAATAGCAAATACATGGAACTT TAATGGCAGTTACATATTTGATTTGATAGACTCCCGGTTTTATTGTTGGA CCAGGGTCTCTAACTACTGCCTTTGTGTCCAAAGTAGAGGACAGTCCAGT CCCACAGAATTGAATTCATTAGGAAAATCAGAGTGTGGGTTTAGGTGGTA ATACTACTATTTGAACATTGCCAGTCCCTCCAATTCCAATTTCCACCCCA CAGAGAAAGTATGGTGTTAAAGAAATGGTGTTAAAGTTTCTGAAACTTCT TTTGCCCACAGGCAGGCTAACAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03139.hp2 NA19240.hp2 HG01109.hp1 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0289 a0001c0001t0001g0030 a0001c0001t0001g0289	3	334	0.0090	-1676	c.255 others(17): Show c.255+3247_255+4922del		UGP2	ENSG00000169764.16	transcript	ENST00000337130.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CLOCK_chr4_55422903_55551909	55531548	TACATCAA others(1668): Show TACATCAATTAGCTGGGCGTGGTGGTATGCGCCTATAGTCCCAGCTACTC TGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGTAG TGAGTCGAGATCACGCCACTGTATTCCAGCCTGGCGACAGAGCAAGACTT CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATTAACCCAATCC TCCTCAAACTCTTCCAAAGAACTAAAATGGGAGAGAACATTTCCAAACTC ATTCTAAAAAGCCGCCATTACCCTGATATAAAAACCAGACAAAGATACCA CAAGAAAAGAAAACCACGGTAATAACCATAATGAATAGTGATTTTTTAAA TGTTAAAAAAAACAAAAACAAAAACAAAAAAAACCCCAGCAAACCAAATT CAACAGCACATTAAAAGGATTATATACCATGACCAAGTGGGATTTATACC AGAAATTCAAGGATGGTTCACAATACAAAAATCAATTAGGGTAATATACC ACATTAATAAAATGAAGCACAAAAACCACATGATTCCAATTGACGAACAA ATGCATTTGACAAAATTCAACACCCTTCCATGATAAAAACACTCAATAAA TGAAGAATAGAAGGAAACTACCTCGACATAATAAACACCATATATGAATA TCCCACAGCTAACATCCTATTCAATGGTAAAAGACTGAACACTTCTCCTA GGATTAGGAGCAAGTCGAGGATGCCCACTCTCATCACTTCTATTCAACAC AGTACCAGAAGTCCTAGATAGAGCAATTAGGCAAGAAGAATAAATAGAAG GCACTCAAATAAGAAAGAAAATTATCTCTGTATACAGATGACATGATTTA TATGCAGAAAGCCCTAAAGAAGAATCCACAAAAAAACTGTTAGTACTAAT ACATGATTTCAGCAAAGTTTCAGGATCCGAAATCAACACACAAAAATCAG TTGCATTTCTATACACCAAAAATGACCAACTGGAAAGGAAAATTTAAAAA AAAAAATCCCAATTTACTATAGTATCAAAAGAGGAAAGGCAAACCATGGT GGCTCAAACCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGAGAACTG CTTGAAGCCAGGAATTTGAGACCTTATCTCTCTATAAAAATACCAAAAAA TTAGCCGAGCGTGGAAGCATATACTTTTAGTCCCAGCTTCTTGGGAGGCT GAGGTAGGAGGATCATTTGAGCCCAGGAGTTCAAGGTCACAGTGAGCCAT GATTGTGCCACTGCACTCCAGCCTAGGTGACAGAGACCCTATCTCTTTAA ACAAAGAAAAGGGGTCGGGTCGGGGGGGTAGTGTGGATAAAAATACTAGG AATAAACTTAACCAAGGAGATAAAAGACTTGTACTCTGAAAACTACAAAA CATCGCTAAAAGAAATCAAAGAGAGAATACAAATAAATGGAAAAACATTC CGTGTTTTTAAACTGAAAGAGTTAATACTGTTAAAATGTCCATACTACCT AAAGCAATCTATAGATTCAATGTAATCCCTGTCAAATTCTCAATGACATT TTTTTTGCAGAAATAGAAACAAAACCATCCTAAAATTCATACAGAATCTC AAGGGACCCCCAAGTAGCCAAACCAGTCTTGAAAAACCACCAAAAATTTG GAGGCCTCATACTTTCTTATTTCAAA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0069 a0001c0001t0031g0069	1	338	0.0030	-1675	c.-29 others(21): Show c.-290+13559_-290+15233del		CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	1/22						chr4	TogoVar
WWTR1_chr3_149512235_149663025	149550684	GAGGGACT others(1668): Show GAGGGACTGCTGTTCAAGATACAGAGTAATAGAAAAACAAAGCAAAACAA AATACAGGAAAAGCAAGGGTTATAAAAGACTGCTTGAATATCTGCTGACA TTTTCCATAAGCACGTGATGATTTAAAAAGAAAATTTCAAAGATGGCTTA ACTTCCGTATCAGTTTTCACAGGTAGTTAGCAAAGCCTTGCTAAATTAAC TTCAGTTACATATATTCCAAATTATCTATCTTTTAGTTTTTTTTTTTCTT TAAAAAGCTTGCTTCTATAATAAAACCACATCAACTATTCCAAATAACAC TTCTAACATCATCCTTTAAGAGTAGAACAGGTAAAGCCGGCACGGTGGCT CAGGCAGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAAATCACCTGA GGTCGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTA TTAAAAATACAAAATTAGCTGGGCATAGTGGTGCATGCCTTTAATCCCAG CTACTCGGGAGTCTGCGGCAGGAGAATCGTTTGAACCCAGGAGGCAGGAG GTTGCGGTGAGCCAAGACCACGCCATTGCTCTCCAGCCTGGGCAGCAAGA GTGAAACTTCGTCTCCAAAAAAAAAAGAGTAGAACAGGTAGAGGCTGACA TTGTTTTTAAAACTTGAATGCAGTCTCTTCAAAATAGGTAAATATGCAAC ATTCAAAGGCATACACTGGGTAATACACTTGATATGGCATCTGGGAAACT TCCTCCTTGGAACAAGTGTTTAATTCAGTTTGATATTTGGGCCAGTAAGT TCATATAAACTTCATCAGAAACACTTTCCAGGAACCTAAACCCAACATGA GAGGGGAGCATAAAAGCTTCCAAAAGTTAGAATGCAAAGCTTTACAATCA CCTCATTCTCTTCTTCTCTGTCACAGAGGGTGACCAATTATCCTGGTTTG CCTGGGACTGAGGGGTTTCCCAGAACACAGGTCACAGTGCTAAATCTGGG AAAGTCCCAGGCAAATGGGATGGTTTTTCACTCCAGGCCTATGGCCATCC ATAGACCTAGGGCTAACTCAGGGCAGCAGAACTCAAATTTCCTATTTCCA CCCTAATGCCTTCCCTTAAAAAGAGAACCAGGAGCCAGTACAAAATGACC TTTCATTATTCAGAACTGTCAGGCTATCCAGATTAGCTGTCAGTGTGTCC TCCTTGGATTAAAAATTGGTGGTTGTCCTTTTGTATCCATATTATGTGAT AATTGGAATGGGAATATTACATACTCATTTTGTCTGTAATTTTTGAAGGA AATCAAGCACTATTTATGACATTTATTTTATGACTGCATTATATCACCCA TAAACATGCACTTGGTTAAATGCAAAAGTCAGGAAAACCTTTCCTGTTGG ACTCCTGGTTGAGCCATACATCTGAAGTAAAGCTCTTTTAAGAAACATTG AACTATTCTCTTCCTGTGATTTGAACTAACTCTCATGTTCCTGGACTTGT GCTCTTTATAAACAAGACCTGGGAAAGAGCAAAGTCTCCCCCTACCCCTC AGGACCAATCACAATGATATGGATCTTCCTTTCTTACAAAAATGGAACAA AAATAATTTTAGTGCATTTCAAATCTGATTAAGGCACAGAGTAGGCACTA AATACATTCTCCCCAAAGTAAGGTTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp1 others(60): Show HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG01109.hp2 HG01169.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18946.hp2 NA18949.hp1 NA18957.hp2 NA18970.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18993.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19074.hp1 NA19082.hp2 NA19085.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0047 a0001c0002t0003 a0001c0002t0015 a0001c0002t0017 a0002c0003t0018 a0002c0003t0022 a0005c0006t0001	a0001c0001t0001g0230 a0001c0001t0001g0272 a0001c0001t0002g0192 others(60): Show a0001c0001t0001g0230 a0001c0001t0001g0272 a0001c0001t0002g0192 a0001c0001t0003g0236 a0001c0001t0004g0036 a0001c0001t0004g0056 a0001c0001t0004g0084 a0001c0001t0004g0099 a0001c0001t0004g0120 a0001c0001t0004g0148 a0001c0001t0004g0153 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0243 a0001c0001t0004g0247 a0001c0001t0005g0207 a0001c0001t0005g0264 a0001c0001t0006g0289 a0001c0001t0006g0293 a0001c0001t0006g0294 a0001c0001t0006g0297 a0001c0001t0006g0305 a0001c0001t0006g0314 a0001c0001t0006g0329 a0001c0001t0006g0331 a0001c0001t0007g0043 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0083 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0097 a0001c0001t0007g0169 a0001c0001t0009g0308 a0001c0001t0009g0309 a0001c0001t0009g0327 a0001c0001t0012g0199 a0001c0001t0013g0301 a0001c0001t0021g0001 a0001c0001t0021g0002 a0001c0001t0033g0087 a0001c0001t0041g0107 a0001c0001t0042g0319 a0001c0001t0045g0303 a0001c0001t0047g0287 a0001c0002t0003g0038 a0001c0002t0003g0060 a0001c0002t0003g0126 a0001c0002t0003g0146 a0001c0002t0003g0163 a0001c0002t0003g0185 a0001c0002t0015g0027 a0001c0002t0015g0183 a0001c0002t0017g0323 a0002c0003t0018g0008 a0002c0003t0018g0018 a0002c0003t0022g0013 a0005c0006t0001g0286	63	334	0.1886	-1675	c.569 others(17): Show c.569-9822_569-8148del		WWTR1	ENSG00000018408.15	transcript	ENST00000360632.8	protein_coding	3/6						chr3	TogoVar
DLGAP2_chr8_732628_1713476	990309	AGACCCCC others(1667): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCC CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTG CACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCC CCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAG ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGC CCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCA CCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCC TGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGAC CCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCC GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	-1674	c.73+ others(17): Show c.73+82388_73+84061del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
RIPK1_chr6_3063494_3120187	3090978	CGCGCCTA others(1667): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCA GAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAA CCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGC CGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGC GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCT AGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTA CCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACC GCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCG CACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGC AGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGA ACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTG CCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAG CGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACC TCGGAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	340	0.0029	-1674	c.915 others(17): Show c.915+1352_915+3025del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC144A_chr17_16685241_16782881	16733958	CGAAACCC others(1665): Show CGAAACCCCATCTCTACAAAAAGTACAAATACATTTAGCTGCGTGTGGGG GTGTGTGCCTCTAGTTCAGCTACCCAGGAGGCTGAAGTGGGAGGATCACC TGAGCCCGGGAGGCCAAGGCTACAGTGAGTCTTGATTGCGTCACTGCCCT CTAACCTGAGTGATGGAGTGGAGACCCTATCTCGAAAAAAAAAAAAAAAA AGCCTAATATAATGCTTAGATTTAGCATTTATGAATAAATGTAATTCTTA TATAACTGATGAGAAAAATGTTAGAAAAATAAATAGCTATAGAATATTCT CAGGAAAAAAAGAACTTAAAGAACGTTGGAACATTTCCTCTGTCCAGATA TATGCAAAGCTACAGCTTTTACTATAGGGTGGTGTATAGGTTAGATGTCA GAGTGTAAAGCCAATTTTTTAATGTAGTCAAATTTATTAATCTTTAATGC CTTTGAGTTTGTTGTAATTTGGAGACCGTCTTTTCCAATTCTGAGATGCT TAAAAATTCTCTAGTTATTTATGTTCTACATTCATGGATTCATTGTCTTC AAATAAACTTATGAAGTTTTGGGAATTTATGCTCTATGAGGTTTGAAGTT TCGATAGAATATTTTTTTCCAGTTGGATATCCACTTATGGCAATCTTTTC ATTGTATACATTATTTAATTTCAGAGAAAATCATAATCTGTCATTTTATT GAGTGCTACTGAATGTTTCCTTTCTTACTTAGATTTCTCATAGGCATCAG AAAGAAAAGGATCTCTTTCATGAAGATTGCATGTTGCAGGAAGAAATTGC CTTGCTGAGACTGGAAATAGATACAATAAAAAATCAGAACAAGCAAAAGG AAAAGAAATATTTTGAGGACATTGAGGCTGTGAAAGAAAAGAATGATAAC CTTCAAAAAATTATAAAACTAAATGAGGAAACATTAACAGAAACAATACT CCAGTACAGTGGACAGCTGAACAATCTGACAGCTGAGAACAAAATACTCA ATTCTGAACTGGAGAATGGGAAACAGAACCAAGAAAGACTAGAAATAGAA ATGGAATCATACCGTTGTAGACTAGCTGCTGCTGTACGTGACTGTGATCA AAGTCAGACAGCAAGAGACCTAAAACTTGATTTCCAGAGAACAAGACAAG AGTGGGTTCGTTTACATGACAAAATGAAGGTTGATATGTCTGGCCTACAA GCTAAGAATGAGATTCTTTCTGAAAAACTTTCTAATGCTGAAAGTAAAAT TAACAGCCTACAAATTCAGCTCCATAACACAAGAGATGCTCTTGGAAGAG AGAGTTTGATTTTGGAACGTGTGCAAAGAGACCTCAGCCAAACACAGTGT CAGAAGAAAGAAACTGAACAAATGTACCAAATTGAACAAAGCAAACTGAA GAAATACATTGCCAAGCAGGAATCTGTAGAGGAGAGATTATCTCAACTAC AAAGTGAAAATATGTTGCTTCGACAGCAACTGGATGATGCTCACAAGAAA GCTAACAGTCAAGAAAAGACAAGCAGTACTATCCAAGACCAGTTTCATTC TGCTGCCAAAAATCTTCAAGCTGAGAGTGAAAAGCAGATTCTTTCACTAC AAGAGAAGAACAAGGAGCTGATGGATGAATATAATCATTTAAAAGAAAGA ATGGATCAATGTGAGAAAGAGAA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA20805.hp2 NA20805.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0025 a0008c0020t0001g0025	1	318	0.0031	-1672	c.241 others(13): Show c.2419-731_3359del	p.Ile others(5): Show p.Ile807fs	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	12/17		2419/4278	807/1425			chr17	TogoVar
COL23A1_chr5_178232618_178595393	178394895	TGTCCTCC others(1665): Show TGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGG CTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGA GAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCA AACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCC GGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCT TGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCG CTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCC CGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTC GGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCC GAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTC CAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCC CCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGG CTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGG CGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGC CCCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCTCTGGGCAT TCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCT CCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGC TCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCT CCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCA GGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCA GGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCG GCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGC ATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTC CTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCA GCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCT CTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTC CAGGCTTGGTTCCGGCCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp1 others(27): Show HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01261.hp1 HG01361.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG02145.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02896.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG04184.hp1 HG04199.hp1 NA18951.hp2 NA18953.hp1 NA18971.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0001c0004 a0002c0002 others(7): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005 a0003c0007 a0003c0023 a0004c0006 a0006c0020 a0009c0016	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0005 a0002c0002t0001 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0013 a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0003c0023t0010 a0004c0006t0003 a0006c0020t0012 a0009c0016t0002	a0001c0001t0002g0056 a0001c0001t0003g0006 a0001c0001t0003g0170 others(27): Show a0001c0001t0002g0056 a0001c0001t0003g0006 a0001c0001t0003g0170 a0001c0001t0004g0065 a0001c0001t0004g0203 a0001c0001t0005g0095 a0001c0001t0005g0113 a0001c0004t0001g0070 a0001c0004t0005g0059 a0001c0004t0005g0060 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0075 a0002c0002t0001g0186 a0002c0002t0011g0038 a0002c0003t0001g0129 a0002c0003t0002g0097 a0002c0003t0002g0121 a0002c0003t0002g0211 a0002c0003t0003g0157 a0002c0003t0013g0114 a0003c0005t0002g0005 a0003c0005t0003g0145 a0003c0007t0001g0012 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0023t0010g0236 a0004c0006t0003g0130 a0006c0020t0012g0085 a0009c0016t0002g0108	30	236	0.1271	-1672	c.362 others(19): Show c.362-89648_362-87977del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL23A1_chr5_178232618_178595393	178395071	CGTCCTCC others(1665): Show CGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGG CTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGA GAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCA AACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCC GGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCT TGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCG CTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCC CGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTC GGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCC GAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTC CAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCC CTGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGG CTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGG CGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGC CCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCAT TCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCT CCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGC TCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCT CCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCA GGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCA GGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCG GCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGC ATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTC CTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCA GCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCT CTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTC CAGGCTTGGTTCCGGCCCCGGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00639.hp1 others(27): Show HG00408.hp1 HG00423.hp2 HG00639.hp1 HG00738.hp2 HG01167.hp2 HG01346.hp1 HG01346.hp2 HG02015.hp2 HG02132.hp2 HG02523.hp1 HG02735.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18999.hp1 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005 a0003c0007 a0004c0006 a0005c0008 a0013c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0005 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0004c0006t0004 a0005c0008t0002 a0013c0010t0002	a0001c0001t0002g0028 a0001c0001t0002g0165 a0001c0001t0003g0027 others(27): Show a0001c0001t0002g0028 a0001c0001t0002g0165 a0001c0001t0003g0027 a0001c0001t0004g0021 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0174 a0001c0001t0005g0161 a0001c0004t0001g0094 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0005g0106 a0002c0002t0001g0020 a0002c0002t0001g0104 a0002c0002t0001g0177 a0002c0003t0001g0036 a0002c0003t0001g0134 a0002c0003t0002g0034 a0002c0003t0002g0138 a0002c0003t0005g0151 a0002c0003t0008g0231 a0003c0005t0002g0163 a0003c0005t0003g0125 a0003c0007t0001g0030 a0004c0006t0004g0135 a0004c0006t0004g0136 a0005c0008t0002g0050 a0013c0010t0002g0117	30	236	0.1271	-1672	c.362 others(19): Show c.362-89824_362-88153del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
LILRA2_chr19_54568790_54595287	54580178	CTTGTGCC others(1665): Show CTTGTGCCGGTTTTCTTTTCTTTTTTTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGTGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAG AGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCC ACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTT TACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATG AACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCA CATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAG TCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCT TTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGAT GGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACA CTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAA AGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTT TTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTT TGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGT TTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTT CGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGA GTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCG AAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTC TTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTT TGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCC ACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTAT GGTTTTAGGTTTAACGTTTAAATCTTTATTCCATCTTGAATTGATTTTTG TATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGC CAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTT GTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTA TTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTAC CAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTC AGGTAGTGCTACAAACCACTGCTCAAGGAAATAAAAGAGGACACAAACAA ATGGAAGAACATTCCATGCTCATGGGTAAGAAGAATCAATATCGTGAAAA TGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAG CTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCAT ATGGAACCAAAAAAGAGCCCGCA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02615.hp1 HG01243.hp2 HG02258.hp1 HG02615.hp1	a0010 a0018 a0028 a0010 a0018 a0028	a0010c0026 a0018c0030 a0028c0015 a0010c0026 a0018c0030 a0028c0015	a0010c0026t0023 a0018c0030t0023 a0028c0015t0027 a0010c0026t0023 a0018c0030t0023 a0028c0015t0027	a0010c0026t0023g0094 a0018c0030t0023g0095 a0028c0015t0027g0054 a0010c0026t0023g0094 a0018c0030t0023g0095 a0028c0015t0027g0054	3	427	0.0070	-1672	c.125 others(19): Show c.1255+4084_1256-5146del		LILRA2	ENSG00000239998.7	transcript	ENST00000391738.8	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD2_chr4_37239743_37454463	37312344	CATCCTTT others(1665): Show CATCCTTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATT GTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGT GTATAGGAATGCTTGTGATTTTTATACATCGATTTTGTATCCTGAGACTT TGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACAGTGGGG TTCTCTAGATATACAATCATGTCATCTGCAAACAGGGACAATTTGACTTC CTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTTCTGCCTAATTGCCC TGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCAT CCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATT CAGTATGATATTGGCTATGGGTTTGTCATAGATAGCTCTTATTATTTTGA GATATGTTCCATCAATACCTAACTTATTGAGAGTTTTTAGCATGAAGGGT TGTTGAATTTTGTCAAAGACCTTTTCTGCATCTATTGAGATAATCGTGGT TTTTGTCTTTGGTTCTGTTTATATGCTGGATTACATTTATTAATTTGTGT ATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTG GATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAATATTTTATTGA GGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTT TTGGTTTTGTCTCTTCCTGGCTTTGGTATCAGGATGAGGCTGGCCTCATA AAATGAGTTAGGGAGGATTCCCTCTTTTTCTGTTGATTTGAATAGTTTCA GAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTG AATCCATCTGGTCCTGGACTCTTTTTGGTTGGTGAGCTGTTGATTATTGC CACAATTTCAGATCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCT GGTTTGGTCTTGGGAGGGTGTATGTGTTGAGGAATTTATCCATTTCTTCT AGATTTTCTAGTTTATTTGCGTAGAGTTATTGGTAGTATTCTCTGATGGT AGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTA TTGTGTCTAGTTGATTCTTCTGTCTTTTTTTCTTTATTAGTCTTGCTAGC GGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCTTGGATTCATT AATTTTTTGAAGGATTTTTAGCTGTAGGGATTTTTGAAGATGCTATTTAT CAAGTTGAGGAAGTTCGTTTCTATTCCTTGTTGATGAGTTTTTTGTTTGT TTGTTTGTTGTTTGTTTGTTTCTGAGATGGAGACTTACTCTGTCACCCAG GCTAGAGTGCAGTGATGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGG GTTCAAGTGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGC ACCTGCCCACACGCCCTCCTAATTGTTGTATTTTAGTAGAGACAGGATTT CACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCATTATCTGCACA CGTCGGCCTCCCAAAGTACTGAGATTACAGGCGTGAGCCACTGCGCCTGG CCATTGCTGAGTTTTTATCCTGA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG02109.hp2 others(3): Show HG01099.hp2 HG01884.hp1 HG02109.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 a0002c0003t0006	a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0288 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0288 a0001c0001t0013g0088 a0001c0004t0001g0092 a0002c0003t0006g0057	6	296	0.0203	-1672	c.152 others(19): Show c.152-13589_152-11918del		NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
COMMD1_chr2_61900674_62141058	61940869	TAGTAGAG others(1664): Show TAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCG TGAGCCACTGCGCCCGGCTGGGGTGAATTCTTTCGCTCCCTTTTTCCTTT CCCTTTTTTTTGTTAATAACCCCCCCTTTTTTTTTGGGATGGAGTCTCGC CCAGGCTGGAGTGCGGTGGCGCGATCTTGGCTCACTGCAACCTCCGACTC CCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTAC AGGCACTTGCCACCATGTCTGGCTAATTTTTGTATTTTCAGTAGAGATGG GGTTTCACCACGTTGGCCAGGCTGGTCTTGAGTTCCTGACCTTAGGTGAT CCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCT TGCCTGGCCTACTCCAGTGTTTTATTAAGCATGTGTAAGACCATGAGGGA CAGCAAATTTGATAAGGCTTCTCAGGCAATTATATGATTCTGTGGGAGGG GTACCCATGTAAAAGGGGCCCCTTTAGCCTTCAGATTTACCATGAACTGC GTTATGGACATATTAGGTAGGAGAATATCCTGGTCATTATAAAGCTAGTT CCATATGGCTTGCATATGAAGCATATCAACTGTTTCATCTGCGGTGCTCT ACTTGGTATTTTATAGGGAGAGCAGGAAGTCCCGTTCTCAGGGCAAACCT TACAGTGGCATTTATTTGGTCCACTAGGCTGGTTGTTGTCTCAGGAATAA CTTTCTGTGCATTTAGATCACATACATTCATCAGTGATTGTTTAATAGTG AGCTTTGGGTCCTGCATTAACCCAAACAAGCTCTTTCATTCTGTAGCATT TAAAATTAAGAATTTTGTCCTTAAAATGGTCATTTTTACAGTCCCTTACT ATAAAAGTTTCTCCAGAATCTGATGATACCAATCTATGAAACAGAACAGT TCCTTTACATTATATCCTCTGATTTTAATAGTTACTTGGTTGTGCCCTTC CCCAACATTGACTATCTTCTTGGTAACCACAGGCCTCAGAGGTAACTTTA TTTGTCCTGGCTTACTTTTTCTTTTTATCCATTTAGTTTTATTTGTACAG TTTTTCCTTTATTTTAAAGTGATGCTTAAATAGTCTCTTAACTAGGAAAA AAATTTACATTTTCTTCAGCAAAAAACACATCCTCGTGTTTGTTTATTTA TTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGA TCTTGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGGCCAGCT AATTTTTGTATTTTTAGTAGAGATGGGGTTGCACCATGTTGTGCAGGCTG GTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGT GCTGGGATTATAGGCATGAGCCACCACGCCTGGCTGTTTGTTTGTTGGTT TGTTTATTTTTGAGACAGAGTCTTTCTCTGTCACCCAGGCTGGAGTGCAG TGGCACTCATGATCTGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAG GGGTGAGCCACTGTGCCTGGCC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	286	0.0035	-1671	c.180 others(19): Show c.180+35012_180+36682del		COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2						chr2	TogoVar
DLGAP2_chr8_732628_1713476	1237649	TCACACAT others(1664): Show TCACACATAGCGTCATGTCTAGTTCTCTCTCACATGGCACCGTGTCTAGT TCTCTCACATGGTGCCATGTCTAGTTCTCTCACATGGCACCGTGTCTAGT TCTCTCACATGTTGCCGTGTCTACTTCTCTCTCACACATAGCGTCTTGTC TAGTTCTCTCTCACACAGAGCATCGTGTCTAGTTCTCTCACATGGCGCCA TGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACATGGTGCCG TATCTAGTTCTCTCTCACGCATAGCGTCATGTCTAGTTCTGTCTCACACA GAGCATCGTGTCTAGTTCTCTCACATGGCGCCGTGTCCAGTTCTGTCACA TGGCTCCGTGTCTGGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTGCCA CATGGCGCCGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCA CATGGCGCCGTGTCTAGTTACGTCTTACACGGTGCTGTGTCTAGTTCTCT CTCACACATAGCGTCATGTCTAGTTCTCTCTCACACAGAGCATCATGTCT AGTTCTCTCTCACATGGCACCGTGTCTAGTTCTCTCACATGGTGCCATGT CTAGTTCTCTCACATGGTACCGTGTCTAGTTCTCTCACATGTTGCCGTGT CTAGTTCTCTCTCACATATAGCGTCTTGTCTAGTTCTCTCTCACACAGAG CATCGTGTCTAGTTCTCTCACGTGGCGCCGTGTCTAATTCTCTCACATGG CGCCATGTCTAGTTATCTCACATGGTGCCGTTTCTAGTTCTCTCACATGG CGCCGTGTCTAGTTCTCTCACATGGCACCATGTCTGCTTCTCTCACATGG CGCCGTGTCTAGTTCTCTCACATGGCGCCGTGTCTGGTTCTCTCACATGG TGCCGTGTCTAGTTCTCTCCCATGGCGCCGTGTCTAGTTACCTATCACAT GGTGCCGTGTCTAGTTCTCTCACATGGCGCCATGTCTAGTTACCTCTCAC ATGGTGCCGTGTCTAGTTCTCTCTCACACATAGCGTCATGTCTAGTTCTC TCTCACACAGAGCATCATGTCTAGTTCTCTCACATGGCGCCATGTCTAGT TCTCTCACGTGGCGCCGTGTCTAGTTCTCTCACATGGTGCCGTGTCTAGT TCTCTCTCACACATAGCGTCATGTCTAGTTCTGTCTCACACAGTGCATCG TGTCTAGTTCTCTAACATGGCACCGTGTCTAGTTCTGTCACATGGCGCCG TGTCTAGTTCTCTCACATGGCACCGTGTCTAGTTCTCTGCCACATGGCGC CGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACATGGCGC CGTGTCTAGTTACCTCTCACATGGTGCCTTGTCTAGTTCTCTCTCACACA TAGCGTCATGTCTAGTTCTGTCTCACACAGTGCATCGTGTCTAGTTCTCT AACATGGCGCCATGTTTAGTTCTCTCACATGGTGCCGTGTCTAGTTCTCT CACATGGCGCCGTGTCTAGTTCTCTCACATGGTGCTGTGTCTAGTTCTCT CTCACACATAGCATCATGTCTAGTTTTGTCTCACACAGAGCATCGTGTCT AGTTCTCTCACATGGCACCATGTCTAGTTCTGTCACATGGCGCCGTGTCT AGTTCTCTCACATGGCACCGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01071.hp2 others(22): Show HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03710.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0012 a0002c0001 a0002c0004 a0002c0006 a0003c0005	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 others(19): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0014 a0001c0003t0017 a0001c0009t0012 a0001c0010t0025 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0003c0005t0004	a0001c0002t0002g0021 a0001c0002t0006g0011 a0001c0002t0009g0039 others(22): Show a0001c0002t0002g0021 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0010t0025g0012 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0003c0005t0004g0037	25	40	0.6250	-1671	c.74- others(17): Show c.74-21200_74-19530del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
MUC5B_chr11_1218066_1267172	1243036	AACTACCA others(1664): Show AACTACCACAACCACGGGCTTCACAGCCACCCCCTCCTCCAGCCCAGGGA CGGCACTCACGCCTCCAGTGTGGATCAGCACAACCACCACACCCACAACC AGAGGCTCCACGGTGACCCCCTCCTCCATCCCGGGGACCACCCACACCGC CACAGTGCTGACCACCACCACCACAACTGTGGCCACTGGTTCTATGGCAA CACCCTCCTCTAGCACACAGACCAGTGGTACTCCCCCATCACTGACCACC ACGGCCACTACGATCACGGCCACCGGCTCCACCACCAACCCCTCCTCAAC TCCTGGGACAACTCCCATCCCCCCAGTGCTGACCACCACCGCCACCACAC CTGCAGCCACCAGCAACACAGTGACTCCCTCCTCTGCCCTAGGGACCACC CACACACCCCCAGTGCCGAACACCATGGCCACCACACACGGGCGATCCCT GCCCCCCAGCAGTCCCCACACGGTGCGCACAGCCTGGACTTCGGCCACCT CGGGCATCTTGGGCACCACCCACATCACAGAGCCTTCCACGGTGACTTCC CACACCCTAGCAGCAACCACCGGTACCACCCAGCACTCGACTCCAGCCCT TTCCAGCCCTCACCCTAGCAGCAGAACCACCGAGTCACCCCCTTCTCCAG GGACGACCACCCCGGGCCACACCACGGCCACCTCCAGGACCACAGCCACG GCCACACCCAGCAAGACCCGCACCTCGACCCTGCTGCCCAGCAGCCCCAC ATCGGCCCCCATAACCACGGTGGTGACCATGGGCTGTGAGCCCCAGTGTG CCTGGTCAGAGTGGCTGGACTACAGCTACCCCATGCCGGGGCCCTCTGGC GGGGACTTTGACACCTACTCCAACATCCGTGCGGCCGGAGGGGCCGTCTG TGAGCAGCCCCTGGGCCTCGAGTGCCGTGCCCAGGCCCAGCCTGGTGTCC CCCTGCGGGAGTTGGGCCAGGTCGTGGAATGCAGCCTGGACTTTGGCCTG GTCTGCAGGAACCGTGAGCAGGTGGGGAAGTTCAAGATGTGCTTCAACTA TGAAATCCGTGTGTTCTGCTGCAACTACGGCCACTGCCCCAGCACCCCGG CCACCAGCTCTACGGCCATGCCCTCCTCCACTCCGGGGACGACCTGGATC CTCACAGAGCTGACCACAACAGCCACTACGACTGAGTCCACTGGATCCAC GGCCACCCCGTCCTCCACCCCAGGGACCACCTGGATCCTCACAGAGCCGA GCACTACAGCCACCGTGACGGTGCCCACCGGATCCACGGCCACCGCCTCC TCCACCCAGGCAACTGCTGGCACCCCACATGTGAGCACCACGGCCACGAC ACCCACAGTCACCAGCTCCAAAGCCACTCCCTTCTCCAGTCCAGGGACTG CAACCGCCCTTCCAGCACTGAGAAGCACAGCCACCACACCCACAGCTACC AGCTTTACAGCCATCCCCTCCTCCTCCCTGGGCACCACCTGGACCCGCCT ATCACAGACCACCACACCCACGGCCACCATGTCCACAGCCACACCCTCCT CCACTCCAGAGACTGTCCACACCTCCACAGTGCTTACCACCACGGCCACC ACAACCGGGGCCACCGGCTCTGTGGCCACCCCCTCCTCCACCCCAGGAAC AGCTCACACTACCAAAGTGCTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04228.hp2 HG04228.hp2	a0058 a0058	a0058c0108 a0058c0108	a0058c0108t0001 a0058c0108t0001	a0058c0108t0001g0012 a0058c0108t0001g0012	1	350	0.0029	-1671	c.621 others(9): Show c.6212_7882del	p.Leu others(15): Show p.Leu2071_Ala2627del	MUC5B	ENSG00000117983.17	transcript	ENST00000529681.5	protein_coding	31/49	6270/17911	6212/17289	2071/5762		INFO_REALIGN_3_PRIME	chr11	TogoVar
UBR5_chr8_102247273_102417700	102320326	TCTAGAAA others(1664): Show TCTAGAAAATCTAGAAGAAATGGATAAATTCCTCGACACATACACTCTCC CAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGA TCTGAAATTGTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGG ACCAGATGGATTCACAGCCAAATTCTACCAGAGGTACAAGGAGGAACTGG TACCATTCCTTCTGAAACTATTCCAATGAATAGAAAAAGAGGGAATCCTC CCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAGCCGGGCAG AGACACTACCAAAAAACAGAATTTTAGACCAATATCCTTGATGAACATTG ATGCAAAAATCCTCAATAAAATACTGGCAAACTGAATCCATCAGCACATC AAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGG CTGGTTCAATATACGCAAATCAAATGTAATCCAGCATATAAACAGAACCA AAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGCCTTTGAC AAAATTCAACAACACTTCATGCTAAAAACTCTCAATAAATTAGGTATTGA TGGGACGTATCTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCA ATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGC ACAAGACAGGGATGTCCTCTCTCACCACTCCCATTCAACATAGTGTTGGA AGTTCTGGCCAGGGCAATTAGGCAGGAGAAGTAAATAAAGGGTATTCAAT TAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTA TATCTAGAAAACCCCATCATCTCAGCCCAAAATCACCTTAAGCTGATAAG CAACTTCAGCATAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAG CATTCCTATACACCAATAACACACAAACAGAGAGCCAAATCATGAGTGAA CTCCCATTCACAATTGCTTCAAAGAGAATAAAATACTTAGGAATCCAACT TACAAGGGACGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCA AGGAAATAAAAGAGGATACAAACAAATGGAAGAACATTCCATGCTCATGG GTAGGAAGAATCAATATCGTTAAAATGGCCATACTGCCCAAGGTAATTTA TAGATTCAATGGTATCCCCATCAAGCTACCAATTACTTTCTTCACAGAAT TGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCGTC GCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCATGCTACC TGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACT GGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAA ATAATGCCACATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAA CAAGCAGTGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACT GGCTAGCCATATGTAGAAAGCTGAAAATGGATCCCTTCCTTACACCTTAT ACAAAAATTAATTCAAGATGGATTAAAGACTTAAACGTTAGACCTAAAAC CATAAAAACCCTAGAAGAAAAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0235 a0001c0014t0001g0235	1	328	0.0031	-1671	c.178 others(19): Show c.1784+1314_1784+2984del		UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	14/58						chr8	TogoVar
ATF1_chr12_50759101_50826162	50822052	GTATTAGG others(1663): Show GTATTAGGCCAGGCGGGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAG GCTGAGGCATTGGGATTGTGTGGCACCAGGAGTTTGGGACCAGCATGGGC AACATGGTGAAACCCTGCCTCTACAAAATGTGCAAAAATTAGCTGGGCAA GGTGGCAGGAACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTAGGAGGA TAGCTTAAGCCCAGGAGGTCAAGGCTACTGTGAGCTGTGATTGCACAACT GCACACCAGCCTAGATGACAGAGCAAGACCATGTCTCAAAAAATGTGTAT TATGGCTTGGAATTATATAATGAGTTGTCATGATGGCAGTTCAAATTCCC ACAAAAGATGCTATAAAGCTGATAAAAAGTGAATTAGACTAAGGGCTTGA CAGCTACTTTAAAGGAAAAATCACAGGTTATAGTAAAACAAAAATTATTT CATAGCTTTACGAAGTACATCAAAACCTAATCATAATAATCATTACATTA TTTACTCTGTTGTACAAAGTAGAGTTTTTTTGTCGTTTGTTTGTTGTTTT TTTGAGACAGAGTCTCGCTCTATCACCCAGGCTGGAGTGCAGTGTCCCAC TCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTGCCTCA GCCTCCCAAGTAGCTGGGATTACAGGCGTGCGTCACCACGCCAAGCTAAT TTTTGTATTTTTAGTAGAGGCGGGGCTTCATCATGTTGGCCAGGCTGATC TCGAACTCCTGACCTCAAGTGATCCGCCCACCTTGGCCTCCCAAAGTGCT GTGATTACAGGTGTGAGCCACCTCGCCTGGCCTGTTTTTAATAAGTACTG TTTGTTTTACTATAAAAGTGAAGGAACGCATACCTCAAGGTAGTAGAATT CAGAAGGCTGTTCTAGGAGAGTTTGGCAGGAATTTTTGAGGGACAGTCAT TTGGAGGAGGTTTAGGCCATTTAACACCCCCTCCTCCCACTTTTTTTTTT TTCTTCTGGAGACACAGTCTTGCTCTGCTCTGTTGCCCAGACTGGAGTGC AGTGGTGCAATCTTGGCTCACTGCAACCTCCATCTCCCAGGCTTAAGTGA TTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGGTTTATAGGCCTGTGCCAC CACACCCGGCTAATTTTTGTAGTTTTTAGTAGAGGTGAGGTTTCTCATGT TGGCCAGGCTAGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGCCATCCC CTCCTCCCACTTTTGAGAGAGAGATTCTGATAACCATCTCCCTTTATTGG TGTAAATTTTTTTGTAGCAGACATAGGTAGGCATTAGAGACCGTATCTCT CTGCCATTGCGTGGTTGAGATCCTTTTCCTCTCTCTATATAGAGGAAATA TATAAATATATGTATATTTTTATATATATAATCTATTATATATAATATAG ATTATATAATCTATATTATATAATCTATATTATATATAATATAGATTTTA TATATATAATCTATATTATATTATATATAATATATATTATATTATATATA ATATATATTTTAATTATATATATAATAAAAATATATAATTAAATTATATA ATATATATATAAATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	382	0.0026	-1670	c.22 others(11): Show c.2274_*3943del		ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding					891		chr12	TogoVar
DHRSX_chrX_2214506_2505976	2280626	AAGAGAGA others(1663): Show AAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGG GGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAA ACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGA AAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAG GAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAG AGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGA GGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAA CGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGG AAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGG AGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAG AGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC GAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGA GAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAG AGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAG GAGGAAATGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0028 a0011c0007t0001g0028	1	50	0.0200	-1670	c.388 others(18): Show c.388+9206_388+10875del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
PPP2R2D_chr10_131896008_131964834	131918092	TTGTAGGG others(1663): Show TTGTAGGGACCTCAGGCGGGTGGAATGTCAGTGTTTGTAGGGACCTCAGG CGGATGGAATGACACAGTGTAGGGACCTCACGTGGGTGGAATGGCACAGC GTTTGTAGGGACCTCAGGCAGGTGGAATGACACAGTGTTTGTAGGGACCT CAGGCAGGTGGAATGACACAGTGTTTGTAGGGACCTCAGGCGGGTGGAAT GACACGGTGTAGGGATCTCACGTGGGTGGAATGACACAGTGTTTGTAGGG ACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCAGGCGGGTG GAATGACACAATGTAGGGATCTCACATGGGTGGAATGACACAGTGTTTTT AGGGACCTCACACGGGTGGAGTGACACAGTGTTTGTAGGGACCTCAGGCG GGTGGAATGACAGTGTTTGTAGGGACCTCAGGCCGGTGGAATGACACAGT GTAGGGATCTCACGTGGGTGGAATGACACAGTGTTTGTAGGGACCTAACG CGGGTGGAGTGACAGTGTTTGTAGGGACCTCAGGCAGGTGGAATGACACA GTGTTTGTAGGGACCTCAGGCGGGTAGGATGACACAGTGTAGGGACCTCA CGCGGGTGGAATGACAGTGTTTGTAGGGACCTCAGGCGGGTGGAATGACA CAGTGTTTGTAGGGACCTCACACGGGTGGAATGACACAGTGTTTGTAGGG ACCTCACGCGGGTGGAATGACACAGTGTGGGGACCTCACGGGGGTGGAAT GACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCT CACATGGGTGGAATGGCACAGCGTTTGTAGGGACCTCAGGCGGATGGAAT GACACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGG ACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCAGGCGAGCG GGATGACACAGTGTAGGGACCTCAGGCGGGTGGAGTGACACAGTGTTTGT AGGGACGTCAGGCGGCTGGAATGACAGTGTAGGGACCTCAGGCGGGTGGA ATGACACAGTGTAGGGATCTCACGTGGGTGGAATGACACAGTGCTTGTAG CGACCTCAGGCGGGCGGAATGACACAGTGTAGGGACCTCAGGCGGGTGGA ATGACAGTGTAGGGACCTCACGTGGGTGGAATGGCACAGCGTTTGTAGGG ACCTCAGGCAGGTGGAATGACACAGTCTTTGTAGGGACCTCAGGCGGGTG GAATGACAGTGTAGGGACCTCACGTGGGTGGAATGGCACAGCGTTTGTAG GGACCTCAGGCAGGTGGAATGACACAGTCTTTGTAGGGACCTCAGGCGGG TGGAATGACACAGTGTAGGGATCTCGCGTGGGTGGAATGACACAGTGTTT GTACGGACCTCAGGTGGGTGGAATGACACAGTGTTTGTAGGGACCTCAGG CGGGTGGAATGACACAATGTAGGGATCTCACGTGGGTGGAATGACAGTGT TTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCA GGCGGGTAGGATGACACAGTGTAGGGACCTCACGCGGGTGGAATGACAGT GTTTATAGGGACCTCAGGCCGGTGGAATGACACAGTGTTCGTAGGGACCT CACGTGGGTGGAATGACAGAG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02056.hp1 HG02818.hp2 others(14): Show HG02015.hp1 HG02056.hp1 HG02818.hp2 HG03453.hp1 NA18950.hp1 NA18952.hp1 NA18960.hp2 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18992.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0033 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0098	a0001c0001t0003g0015 a0001c0001t0003g0091 a0001c0001t0006g0047 others(13): Show a0001c0001t0003g0015 a0001c0001t0003g0091 a0001c0001t0006g0047 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0115 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0033g0134 a0001c0001t0065g0092 a0001c0001t0066g0172 a0001c0001t0067g0167 a0001c0001t0098g0096	17	394	0.0432	-1670	c.101 others(19): Show c.101-16352_101-14683del		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
ABHD8_chr19_17287131_17308425	17287380	GAGATTGT others(1662): Show GAGATTGTACCATTGCACTCCAGCCTGGGCAACAGAGCGAGAGTCTGTCT CAAACAAACAAACAAAAAAACAAATGCCACATCAACATCAGGACGTTAAC CTTTAGACCCTATATGGTCTAAAAAGGGGAGGCATGAATAATCCACCCCT TGTTTAGCATATCATCAAGAAATAACCATAAAAATGGGCAACCAGCAGCC CTGCCCTGTCTATGGAGTAGCCATTCTTTTATTCCTTTAGTTTCTTAATA AATTTGCTTTCACTGTACTCTATGAACTCGCCCTGGATTCTTTCTAGCGT GAGATTGGAGAACCCTCTCTTGGGGTCTGGATCGGGCCTTTCTGGTAACA CTTTGGCAGCTTGGTGCTGTCAAAATGGATGGAGCCTGCCAGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCAC AAGGTCAGGAGATTGAGACCGTCCTGGCTAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGACAGGCATGGTTGCAGGCGGCTATAATC CCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTG GAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACA GAGCGAGACTCTGTCTCAAAAAATAAATAAAATAAAATGGATAGAGGCTG CTTTTACCGCCCAGACATGGGACACCCACATGGCGGGTTGGACTGGGGGA TCCTCAGCTGCACTCAGGATATCTACCCAGCTCAAGAGCCAAGTTCACTG CTACCCAGCCGTGAGACCTCTGATCAGTATTTTATCTGCCTGAGCATCAG TTTCCTTGGTTGTACAGTGGAGGCAGTAAAGAGGTCCTACTCCAGGGGAT CATTGTAAGGTCATGTTGGGGCTGGGTGTCACGCTTGTAATCCCAGCACT TTGGGAGGCTGAGGCGGGAGCATAGCATGAGCCCAGGAGTTTGAGACCAG CCTGGGCAACATAGCAAGACTCTATCTCTACGAAAAGTAAAAACATTAGG CGGATCTGGTGGGTGGGCCTGTGGTCCTAGCTGCTTGGGAGCCTGAGGTG GGAAGATTGCTTGAGCCTGGGAGTTGGAGGCTTCAAGGAGCTACCATCAC AGCACTGCACTCCAGCCTGGGCGATATCAAGATCCTGTCTCTTAAAAAAA CTATAAAAATTTAAAAATAAGGTCATGTGAGCAAAGTGTGTGGCTCAGAG CCCAAAGTGTGTGGCAGTGCAGCCCAGGCGAGAACTTGCTGGAGGAAGGG GAGGTGTGGGGGCCCTCAAGGGGCCGCCTGTGTGATGAGGCGTGAGCAGG GCTGGGACCCTCCTCAGGATCATTGTGCAACCCCAGCCTCCCCTGTTGCT TCTGGGAACCTGTTTATCCACTATAAAATGGGATTATTGGCCGGGCTCGG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATC ACCTGAGTTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCA TCTCTATTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTA ATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAG GCGGAGGTTGCAGTGAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG02258.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0288 a0001c0001t0001g0289	2	386	0.0052	-1669	c.36 others(11): Show c.3612_*5280del		ABHD8	ENSG00000127220.6	transcript	ENST00000247706.4	protein_coding					4750		chr19	TogoVar
ANKLE1_chr19_17276901_17292646	17287380	GAGATTGT others(1662): Show GAGATTGTACCATTGCACTCCAGCCTGGGCAACAGAGCGAGAGTCTGTCT CAAACAAACAAACAAAAAAACAAATGCCACATCAACATCAGGACGTTAAC CTTTAGACCCTATATGGTCTAAAAAGGGGAGGCATGAATAATCCACCCCT TGTTTAGCATATCATCAAGAAATAACCATAAAAATGGGCAACCAGCAGCC CTGCCCTGTCTATGGAGTAGCCATTCTTTTATTCCTTTAGTTTCTTAATA AATTTGCTTTCACTGTACTCTATGAACTCGCCCTGGATTCTTTCTAGCGT GAGATTGGAGAACCCTCTCTTGGGGTCTGGATCGGGCCTTTCTGGTAACA CTTTGGCAGCTTGGTGCTGTCAAAATGGATGGAGCCTGCCAGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCAC AAGGTCAGGAGATTGAGACCGTCCTGGCTAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGACAGGCATGGTTGCAGGCGGCTATAATC CCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTG GAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACA GAGCGAGACTCTGTCTCAAAAAATAAATAAAATAAAATGGATAGAGGCTG CTTTTACCGCCCAGACATGGGACACCCACATGGCGGGTTGGACTGGGGGA TCCTCAGCTGCACTCAGGATATCTACCCAGCTCAAGAGCCAAGTTCACTG CTACCCAGCCGTGAGACCTCTGATCAGTATTTTATCTGCCTGAGCATCAG TTTCCTTGGTTGTACAGTGGAGGCAGTAAAGAGGTCCTACTCCAGGGGAT CATTGTAAGGTCATGTTGGGGCTGGGTGTCACGCTTGTAATCCCAGCACT TTGGGAGGCTGAGGCGGGAGCATAGCATGAGCCCAGGAGTTTGAGACCAG CCTGGGCAACATAGCAAGACTCTATCTCTACGAAAAGTAAAAACATTAGG CGGATCTGGTGGGTGGGCCTGTGGTCCTAGCTGCTTGGGAGCCTGAGGTG GGAAGATTGCTTGAGCCTGGGAGTTGGAGGCTTCAAGGAGCTACCATCAC AGCACTGCACTCCAGCCTGGGCGATATCAAGATCCTGTCTCTTAAAAAAA CTATAAAAATTTAAAAATAAGGTCATGTGAGCAAAGTGTGTGGCTCAGAG CCCAAAGTGTGTGGCAGTGCAGCCCAGGCGAGAACTTGCTGGAGGAAGGG GAGGTGTGGGGGCCCTCAAGGGGCCGCCTGTGTGATGAGGCGTGAGCAGG GCTGGGACCCTCCTCAGGATCATTGTGCAACCCCAGCCTCCCCTGTTGCT TCTGGGAACCTGTTTATCCACTATAAAATGGGATTATTGGCCGGGCTCGG TGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATC ACCTGAGTTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCA TCTCTATTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTA ATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAG GCGGAGGTTGCAGTGAGCCA	G G	splice_region_variant splice_region_variant	LOW	HG02258.hp1 HG02922.hp2 HG02258.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0004 a0001c0001t0028g0004	2	406	0.0049	-1669	c.82 others(10): Show c.829_*2497del		ANKLE1	ENSG00000160117.16	transcript	ENST00000404085.7	protein_coding	9/9						chr19	TogoVar
SLC39A4_chr8_144407414_144421844	144420175	GTCTCTAC others(1662): 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 TGACCAACATGGAGAAACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(10): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG02055.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG03225.hp2 HG03239.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0013	a0002c0002 a0002c0025 a0004c0005 others(2): Show a0002c0002 a0002c0025 a0004c0005 a0006c0006 a0013c0013	a0002c0002t0001 a0002c0025t0001 a0004c0005t0001 others(2): Show a0002c0002t0001 a0002c0025t0001 a0004c0005t0001 a0006c0006t0001 a0013c0013t0001	a0002c0002t0001g0025 a0002c0002t0001g0030 a0002c0025t0001g0057 others(6): Show a0002c0002t0001g0025 a0002c0002t0001g0030 a0002c0025t0001g0057 a0004c0005t0001g0060 a0006c0006t0001g0028 a0006c0006t0001g0062 a0006c0006t0001g0063 a0006c0006t0001g0064 a0013c0013t0001g0065	13	422	0.0308	-1669	c.-50 others(11): Show c.-5055_-3387del		SLC39A4	ENSG00000147804.10	transcript	ENST00000301305.8	protein_coding					3332		chr8	TogoVar
C7orf50_chr7_992006_1143247	1127627	TGTCACCC others(1661): Show TGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGC TGGAGTGCAGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGC ACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGA TCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTC GGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCAC CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCACAATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCA TCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC GCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCC ACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCAC CATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTG TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGGGCTGGAGTGC AGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGC GATCTCGGCTCATCCCACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02055.hp2 HG00099.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0307 a0001c0001t0005g0306 a0001c0001t0003g0307 a0001c0001t0005g0306	2	326	0.0061	-1668	c.-1- others(14): Show c.-1-1909_-1-242del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1127701	AATCTCGG others(1661): Show AATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATC TCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGG CTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCTCACCGTCACCCGGGC TGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC AATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCTC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGG GCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTG GAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGC AGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGC GCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCTGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCA TCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCG TCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCGCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(38): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02273.hp1 HG02602.hp1 HG02615.hp1 HG02735.hp2 HG03098.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp1 NA19054.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0003 a0001c0001 a0009c0003	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0009c0003t0011	a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 others(38): Show a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0275 a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0135 a0001c0001t0007g0137 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0008g0116 a0001c0001t0008g0132 a0001c0001t0009g0117 a0001c0001t0009g0128 a0001c0001t0009g0131 a0001c0001t0009g0133 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0148 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0010g0134 a0001c0001t0010g0136 a0001c0001t0010g0138 a0001c0001t0010g0149 a0001c0001t0011g0261 a0001c0001t0011g0276 a0001c0001t0011g0277 a0001c0001t0026g0175 a0009c0003t0011g0274	41	326	0.1258	-1668	c.-1- others(14): Show c.-1-1983_-1-316del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
SCGN_chr6_25647215_25706783	25659787	CCAGGCTA others(1661): Show CCAGGCTAAAGTGTTTTAGGACGTTTTGTTCTAGGAAGGACTAAAACAGA GCATGGGTTGTTCTGGCAAGTTCTTTGCCATATGCAAGAGGTCAACTGAA AAGATGACAGCCTGATGGGAAGAGGTGAGGACTGACAGCCCCTCCGAGTC AAGACTACAAAAAAAACAGAAACATTTTCTCAGCCAGTGATGGGAAAATG ATAAAGGAGAATTTCCATGTAAGAAGCTGGAGCACAAAAGAAAAAAACAA GGTCCCCAAAGAGGAAGAAGCTAGCAGGCCAGCAAGGAAGCCAGGGGCTA AAGGTTATAGTACATTTTTTTCTGCCTCCCAGGGCCGTTGTGAAGATCCA GGGAGATAATATTTGTTAAAGAGCATGGCTTAGTGCCCATCCTCTGGCTG GCAGTCCAAAAATGTTTATTCACCTGCTCTTCTTTCCTATTCTTAGCAAC TGGATGTGGCAGCTGTTAATTCCCCACCACAATTCTCTTTCCACCGTCTC CTCTTTTCTTTGTAACCCATTAGGGAGAGGTCTCAGTGGAAAGGAAGGCT GGACAAAGATGCCTTCCACCAGCCTGTGATGGAGGGCAAAGACCAGGTCT CTTTTGCTGACTATAATATCACCAGGGGCCAGAATTGTGTTTGGCACATG GTAGGTGCTTGACAGAAAGCAGTCTTTTCTGGGTTTTATACCTGAAAGCA ACATGTTGTGGTGGGCTAAAGTGTTTTAGGACATCTTGCACCTGGGTTGT TCTGGCAAGTTCTTCCTTATCTCAGGATGTTGCATTACCAGCACATGCTG GGGTTATTCTTGAGAAATACAAGTGAGAAAGGCAGAAGAACTGAGTTAGC CCAAGGCCACCCAGAGAACTGTCCTGTACACATGTGCATGGATGATGCAT CCAGAGAGTGTGCTGAAGGCTGAGTCACCTCCACCCCCAACACCAACAGG GAGGATAATGAGTCAACAGGATTACCTCTTCTCAGCCCTTCTAACTTACA GCTGGAGGGCTTGGGACAAGAGACAGCATGATAGTATTAGGGAGAATGAG TTTAGCATAAATTTCAGCAAGTCTAGAATCTTACAATTGGGCACTGTTTG GGATTATCTATGCTTCTCAACCCTTGCATCAGAATTCATTCTTTATTGTT GGTTACATATGTCACTTTTACTGTAGTAACCATAAAATCCACCAAAGAAG ACAATTAAGGTTCTACATAGAAGGGAGTTGTAACATCTTTGGTTAACTCG GCAATTACCTTATTACTTTGGTCTCCTCTTTAATTATTTCTCCCTTCTCA TTATGTTTTTTTCCTCAGAGAATACAAAAGAAGATTAAAAATGAGTTACA GACACCTGGGGGCCCAGAAGAACTGGACTTTTCAGTTAAAAAATGTAAAA TCTCTGAGTTATTGGGAAGAAAATCTGTAATTACAATACAGTCTTTTGTC ACAACCAAATACAACACTGTTCAAATTTGTTCTTTCAGCACCCTAGTCTC TAAGCTTCTTTTCATCAATATTTTAGTAACTCATTAACTGTAAATTGTAC CTAGTCAAGATTCTGATTAGTGCTTGGTTGCTCAAGAAATCTCCAGCATT GCTCTCTCTTCTACAAAAGGGTAAAATCACTTTAAATGGTCAAGGAACCT GCTTTCCATGTTTGAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	368	0.0027	-1668	c.154 others(15): Show c.154-1762_154-95del		SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
ZMYM2_chr13_19953727_20094115	20075969	TACAGGCA others(1661): Show TACAGGCATGAGCCACCATGCCAGCCACTTTTTTTTCTTTAATCTCCCCA CCTTATCACTGTTAGCTAGATGTGTATATTTCTGTTTTTCATGAATGTGA TGAAAGAGATAGTTTTGTCAGCTAGGAACACTAGACCATATTATATACTT CTACATCTTACTTTCTCTTCATCTACTTCCCAGTAAATTGTGGCAGTCCC TCTAAGTCAGCAGGAACAGGCCTAACTATGTATGTATCTCATTGTGTGCT ATATCACAATTAATTTAGTAATTTCCACAATGATGAGCATTCTCTTTGTT TTATGAAATTTTGCTGTTATAGACAGTGTATACTTTCCTTCCTCCTCTGC TCCCCTCCTGCCCCACACAAATCTTCTATAATTATCCTAAAGAACTGATG CATTTGTTTCTGAGATATGATTCCAGAAGGGGTATTATTGGATCTCAAGA AAAGTATATTTTTTATTTTTAAAGATATTAACAGATTTCTTTCCCAAAAT GTTTGAGGATCTTTTTGTGTTTATTGACCATTTGCTTTTCTGTGAATTGC CCCATCGTTTATCTTTTTTAGTTTGTGAGTTTCTTGTTTATTATAGACAG TAAGTCTTTGTCATTTTTCCAAATTTTTCTCCAGAATTTTTATTTTTTAC TTTCTACATGTTAAGTCTTTTATATGGAGGGATGTGTTTTTTAAGAAGAA AGAACTTTATTTACTAAATTAAAAAATATAGTAAACTCACAGTGTGGCTT GTTAATTTAATTTGTATGTAAATGGGTAGTTTTCAAATAATTAAATTCTA TTAAAATACATAGAGGATTTCTAAGCTTATTTAATCCTTATTCAGAGGAA TTTAAGATTTATTTTTTATTTTATTTTATTTTTTTTGAGACGGAGTTTCA CTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCACACCGCATC TCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCT GGGACTACAGGCCACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGAC AGGGTTTCACCGTGTTGGCCAGGTTTGTCTCGTTCTCTTGATTACAGGCG TGAGCCACCACGCCTGGCCTCTTTATTTTTTAATAGCAGTGATGAGGTTG ATTCAGGCTATTTGAAACCTTCTTTCATTGGTTAATTTAGCAAACATTAA GTGCTGTTGTATGCTGGATACTGGACATTGGAGTAGGCTTTGGAGACTGA GATAAGCATGTTGACAACTTACATTTACTGACTGTTTACTGCTTTCCACA TACTATGCTACGTGCTTGATGTGTCATTCAGTCCTCTCAACAACTTTACT ATAATTATCAGCATTTTTTTATGAGGAAGTAAAGTTACTTGCCCAAGTTA CACAGCTCATAAATTTTGAATCTGGTGAGCAGTTTGAATTAAAAGCCATT ACAATATGTTCCACTGAAAGAGTTGAAATACACAGACAAATAATATTTAA ATAATGTTATGCTCGTGTTGTATACAGACTTGGTAACACAGAATTGGGAC TAATTAATTCTACCTAAGTATATACAATGAAAAAGTATAGGAATTTAGAT GACATTGAGTTTTAAATTTTAAATTGAGTTTTGAAGTACATATAGAAATT TATTCAGCAAAGGGATGAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01099.hp2 others(14): Show HG00639.hp2 HG00735.hp2 HG01099.hp2 HG02145.hp1 HG02257.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0004t0011 a0001c0004t0014 a0001c0004t0027 a0002c0005t0016	a0001c0001t0007g0127 a0001c0001t0007g0260 a0001c0001t0007g0261 others(14): Show a0001c0001t0007g0127 a0001c0001t0007g0260 a0001c0001t0007g0261 a0001c0001t0008g0259 a0001c0001t0008g0273 a0001c0001t0008g0274 a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0019g0042 a0001c0001t0021g0040 a0001c0004t0011g0036 a0001c0004t0011g0037 a0001c0004t0014g0269 a0001c0004t0014g0270 a0001c0004t0027g0262 a0002c0005t0016g0263 a0002c0005t0016g0264	17	286	0.0594	-1668	c.345 others(19): Show c.3454-6045_3454-4378del		ZMYM2	ENSG00000121741.17	transcript	ENST00000610343.5	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 2609 hits)