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
WDR72_chr15_53508741_53764663	53542066	TCTGCAGG others(1766): Show TCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCA ACGTTCAGAATCAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGA AGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAA GGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAG GGAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGCC AGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCA ACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAA TAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGG CCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACAA CCGGTACCAGTCGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGAC TAGGAAGAAACTGCATCAACTAACGAGCAAAATCACCAGCTAACATCATA ATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATGTAAATGG ACTAAATGCTCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTC AAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGAC ACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAAATGG AAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACT TTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTA AAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATATATATGCACT CAACACAGGAGCACCCAGATTCGTAAAGCAAGTCCTGAGTGACCTACAAA GAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCACTG TCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGA ATTGAACTCAGCTCTGCACCAAGCGGACCTAATAGACATCTACAGAACTC TCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACC TATTCCAAAATTGACCACATACTTGGAAGTAAAGCTCTCCTCAGCAAATG TAAAAGAACAGAGATTATAACAAACTATCTCTCAGACCACAGTGCAATGA AACTAGAACTCAGGATTAAGAATCTCACTCAAAACCGCTCAACTACATGG AAACTGAACAACCTGCTCCTGAATGACTTCTGGGTACATAAGAAAATGAA GGTAGAAAGGAAGATGTTCTTTGAAACCAACGAGAACAAAGACACAACAT ACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATA GCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCT AACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAG CTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATA GAGACACAAAAAACCGTTCAAAAAATTAATGAATCCAGGAGCTGTTTTCT GAAAAGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAA AAGAGAGAAGAATCTAATAGACGCAATAAAAAATGATAAAGGGGATGTCA CCACCGATCCCACAGAAATACAAA	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0222 a0002c0001t0002g0222	1	316	0.0032	-1773	c.314 others(21): Show c.3149-20517_3149-18745del		WDR72	ENSG00000166415.15	transcript	ENST00000360509.10	protein_coding	18/19						chr15	TogoVar
ADARB2_chr10_1172313_1742525	1237784	CCCTCCCG others(1765): Show CCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT CACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT CCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCCCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTG GCGATACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTTTA CTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0035 a0002c0002t0021g0035	1	106	0.0094	-1772	c.136 others(19): Show c.1361+2575_1362-3940del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
EPHB1_chr3_134790260_135265467	135123692	CTTATTGT others(1765): Show CTTATTGTTAAGTTGGGGATAATAATGCCTCATAGAATTTTGAGAGAAAA TAGTGACATAGTATCTGTAAAAAGACTGTTCGTGCTGTTCAGAGATGTTA CAAAGTATTCAGAATCTGCCTCTTCTCATCTCCTCTGCTGATGTCATTCT GGCCCAAGCCACCATCACCTCTCCCCTAGATGACTGCTGTGTCCTCCTGA TTGGTCTACCTTCTTCCACCTTTATCCTCTTCTAGCCTGTCCTCCACAAG GCAGCATAAGTCTAAGCATGCCATTTCTCTGCTCAGAGCCCTCCTTACAG TAACACCTCATTTACAGTAAAATTCCTGGCAGGCTGAAACCAGGACTTAT GAGTCTGCCTCCCCCACTACCTTTCTAATCTTTATTATGACCCCTCTACT TCTTGATTGTTATATGGCAACCATGCTGCTTCCTTGATCTTCCTCAAAGA AGGAACCAAGTACATTCCCACCTCAGGGCCTTTGCACATGCCGGTCCTTT GGGCTGGGGAACACTCCCTCTAGATATTTGCATTGCTTCTGTCTCATCAC ACTCAGGTCTCTGTCCAGATGGCCTCTGCTCTGAGAGAGCTCCCCTCACC ACACCAGCATGCTGTCTCCCCTCCTCCTTCTCTGTGTATCATCAGAGCCC TATGACTGCTGATACTATTCATTTATCTACGTATTGAAATGTTTTCTGAC TCCTTCACTAGAGAATAAGCTCCATGAGGGCAGTGTCTGTGTCACTGTCT TCACATTCATCATTACCATATAACAATGAGTTAAAAATTACAGCTGCCAA TAGAGAAGCCATCCTAAGTGACTGGCACTGTTCTAAACCTTTACTTACAC TGCTCAATTGGTAGTCCATTACAACACTCCTATGGGTTGCTGTGATCATC ATGCAGATTTTACCAGTGAATATGCTGAGGCTTAGATAGGCTATGCCAAA ATCCAGAATTCAACTCAGTTCTGTCTGTATCTGAAGATCTGTGACCTCCC ATCCTTAGTAATTTGCTACTGGGGTTCATTTAAAGCTGATTTCAAAGGTG GTATAAAATTTTCTCTGATAAGGTTGTGCTCACATGGCTGTTAGAAAAAG TAGACCAACATGATTTCCCTGAGCTTTAATGCCCTCTCCTCCTTGCCCCA GTGAGATATCCTACACTTTGAGGACAGGAGCCTCAAAGGATGCCTGAGCT TGCGGTGAGACAGGCATCAGCCAACCTTCTAGCCAGCACCTGCTGCTTTG GACCCTCAGCACAATTCCCTCTCTTGAAGGGACACCTCAGAATTTCAGAC ACCACTTATTCCATATTGAGCAAAACCATGTCCCATATGTCTGGTATTCA TTGTCGGCAGATTGCAGACAATGCTTGGTCTGTTTTTTTCTGAAGATCCT GAGCCCTTCCAAGCTTCTGCTATTGAGAGGTGGATGTCTTTGGCATCCTT TAAATTACTTACCAGTCTGTCCACTTTGGTGCCACTAGTTTCCACAGGCC CCTGGTAACTTATTCCTCGTTTCCCATATTGCCTCAGTAACCTCCCTCCC CTATGGTAAAACAGGGCAACTCTTGCACCACTGACCTCTGTTATTGGGAT CTTATTATGATGCCTGACATAGAATCTTTAGAAGCACCCCCACTGTTGGC CAGAGAACTCAGTGAAAGGGACAGAGAACACATAGGCTTATGCCACTCTC CAAGGTCCTGAACCAACATGCTGCAAAATATCACAGCCCTTTCCTCTATG ATGCTGGTCATTCCTGTCTGATG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp2 HG06807.hp2 HG02055.hp2 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0002t0025 a0001c0003t0003 a0001c0002t0007 a0001c0002t0025 a0001c0003t0003	a0001c0002t0007g0026 a0001c0002t0025g0118 a0001c0003t0003g0006 a0001c0002t0007g0026 a0001c0002t0025g0118 a0001c0003t0003g0006	3	134	0.0224	-1772	c.962 others(17): Show c.962-9020_962-7249del		EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
PALLD_chr4_168492052_168933441	168698305	ACTGTAGT others(1765): Show ACTGTAGTCAATAAGAAATTAATTGTACATTTTAAAATAACTATAAGAGT GTAATTGGATTGTTTAATTGGAGTATAATTGGATTGAATAACTAAAAGAA TAAATATTATAGGGGACAGATACCCTGTTCTCCATGATGTGATTATTTCA CACTGCATGCCCTTATCAAAACATGTCATGTACCCAGTAAATATATATAC TTCCTATGTAACCACAATTTTTTTTAATTTAAAGAAACAAAATATGGAGA TACCATCTCCAGCAACAACTATATTCCTGCTGGATGCCCACATGAGGCCC CACCAGACTGCTCCACCGAGTGAGCCTTATATTTCCCAGATTCACTCAAG ACCTTACCCACTGAGTGCCCCGTGGGGCTTTTGGAAACTTTCAAGGACGT TGAATCTAGTTGATGGCCCAAGATGGTTCTTGGGATCTTTTTCCTAACAG TGACAAGGTTACTTTTTCTTTAGTCAGCCAAGATTTGTGCTCACTACTTA ATTTTTTTAAACTAAAGAATGCATTTTTTAAGGATACATACATATATGGT AAACACATAAAGAAAATCGAAGGAATTATTATCTCAAAGGAGAAGGAAAA TTAAATTGGGGAGAGCCTATGAGGTATTTCTAAAGCACTGGGAATGTTTT ATTTCATAGACTTGAGGATAGATACACAGGGGTTCATTTCACTGTTATTC GTTAAATGGTACATTTTAAATATCCTTCTTTATATATGATATTAAATACA ATTGACAATTTAAAAAAATCCTTTGCAATTTTTTTCTTTTCTGAGACAGA GTCTTGATCTGTTGCCCAGGCTGCAGTGCAGTGGCATGATCTTGGTTCAC TGCAACCTCTGCCTTCCAGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCA AGTAGCTGGAATTACAGGCATCCACCACCACGCCCAGCTAATCTTTGTAT TTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTCGAGCTG CTGACCTCAGGTGATCCACCAGCCTCAGCCTCCCAAAGTGCTAGGATTAC AGGCGTGAGTTACTGCACCCAGCCTCCTGTGCAAATATTGATACAAGCAT TACATTTACCCACACTGGATTTCATCTTGTTGATTTTAGCTCAGAGTTCT TTTTTACCAACTGTGTTAGCCAAACCATGTGGTGTGAAAGGTAAAAGCTG GATTTCTTTTTTAGGGACTTGGGACAAAAAAAAAAAAAACAGTTGCAAAG GAAGCCATTTATGAAAATGTCCCCTTATTACCCAGGGAACCCAGTAATCT TATCCTTGCTGCCTCATCATTTTATGAGTTTCCACAAACAAAATGGTTTT TATTTGTATTTAACCAAGTGTTAAGTAGGTCCAGGAACTTGAATGCAATT CAAGGTTGCCTTCTGGGAGATATTGCTGTGATTTTGTAATTTTTAGGTAA CTATAAAGAACAGAATTTATCACCAGTAAAAACAGTTTCTGATTTAGTAA TTTATTAAATGCCCTCAAATCAAAACCTTAGGAAATCCAAACATGGGAAA ATTAGATTAAAATGCATCATAATTAAGGTTATTAATAACTTTAAATTTTT CCATTTATACTGGAGACAGTTTCTTTAGTACAGATAAGTAAGTCTCTAAA TCCCTTTATGTGACATAAGCAGTCATTTTCTGATTTCCATTCCTTACCAA AATTTATTTTACAGATGTCTTATACGTCTTTGTTCGAGTGAGATGCCACC AGATGAAAATTCAGTATTACAAC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0142 a0002c0003t0002g0142	1	156	0.0064	-1772	c.150 others(19): Show c.1501+7017_1501+8788del		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
TAS2R38_chr7_141967631_141978773	141970723	TATCACAC others(1765): Show TATCACACATACACAAATGCTACAAATCAATAAACTCTTATAAATCAATA ATAAAAAGATAACTCAATATTAAAATGGGCAAACAAATAGTTACTTTATA ATAGAAAAAATACAAATAGCCAAGAAGCACACAAAATTGTTCTCCATATC ATCAGTTAGAAGACAAATGCAAATGGAAACCACAATGAGATACCATTTCA TCCCCACTAGAATGGCCAAAATCAAAAAGACTGACAACACCAAATGTTGG TGGGAATGTGGAACAGCTCTCCTACATTATTGAGGGGAGCATAAAATGTC AGAATCACTCTGGAAAACTCTTTAACAGTTTTTATAAAGTTAAATGAATA TAAATTTTTTAACACAGTAATTTCACTCCTAGGTATTTACCTGAGAAATG AACCTATGCCTACAAAGAAATGGATTCAAGAATGTGTATAGAAACTTTAT TCATAGTAGCCCCACACTGTAGGCAATGGAAAATGTTCAGCAATAGTGAG TAGGTAAGCAAGCAGTGACTCATATAATATTATGGGTGAATCTCAGAAAC ATAATGTTAAAAATAAAGCCATACAAATAAACATATGAAAAGATGCTCCA CCTCTACACCAACAGGGCATCTAGAAGAGTGGATCTCAACATTGGCTGCA CCCCGAAATCACCTGAGGAGCATTAAAGAATAAAAGCCTCATTTCATCTC AAGAGATTTGATTTGATTGGTTGTATTTGGCCTGGACATTGAGATTTTTA AAAAGCCCCTTAGATAATTTCAATGTGCAGCCAAGAGCGAGGACCTAGGT CTTTAAGGGAATCCTGGGACAACTTCAGTGTCCACCAAGGAAAGGAAGCC AGATGAAGTTGCAAATTTTGTAGCCACTGCAGGTGAAGAAATGGCTAATT TTTGGAGGAAAACTGAGGTGAAGATCTGGATCTATTAAGACCAAGTGCCT GAGAGGAGGAAACAGTTCTCTGGCCCCACAGCTGGCAGAACTAAGAGCCT TGGTGGTGAGCTGCTACAACTGTGAAGCCTGTGAACCACGAAGCCTATCA AGATTTAAATGTCTGGTATACCTTGTTTTCTCCTGAGTCTTTCAGTACCT GATTTGAGGAAAGCCTTCCTGGCTGGGTTCCTGTGCAGGAATACAGACAA TGCCAAATCTCTACAAATTTACCTTTCAGCTAGGTGATTTTGGTAGGGTC TCCAACCAGAGAGACCAATACTTGGTACCAGGCAAAGCACCATCTTCAAA GGCAAATTGGGCATAGCCAGAAAGCCCACACAGGGCACCTACTGGCATCC AGGTCACCTACTGAGCAAATATCTGCTTCTCTTCCATCATTATAGAGTAG GTAAAAGTGCATTTCTGGATCAGTGTATTTTCAGACAAAACGACCCCTAT CCTCTCGTGCCTCTTGAAGTTGAAGTTATGTGGTACCTCTTGAAGCTGGA ATTATGACATAATTATCATTCCAAGTTTGTCTTTGTTTCCATGAAAATTG CGAAGTTTGAAGAGGATTATATCCTTATTGTAGTAGTGAATATTTCCAAA AATGATGCTAGCACAAGTTCCGAGAAAGAGGTTTAACAGTCATGTTAAAA GCCAAACATATTATCTTGGGATTTAGATATTATTTCAGAAGAGATGATTT CTCATGGTTTGATTTATACCAATAATAAGCTATAGTATATAAAGGATTTA CACCAAATACTTAATTATTTTGTTCATTTTATCAAAACAAACCTAGGGTA CCAACATTATTCTTGCCTAGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	438	0.0023	-1772	c.19 others(10): Show c.193_*1964del		TAS2R38	ENSG00000257138.1	transcript	ENST00000547270.1	protein_coding					1907		chr7	TogoVar
DTHD1_chr4_36276616_36352511	36297420	GGCTCTTG others(1763): Show GGCTCTTGCCCTTAGACATTCATTTCCAAGTATTGATTTTAATTTTTGAT CAGATATAAATATCAGTTCTTCTTCTCCCTTTTCCCCCAAGCCGAAGCAA TTAATTTTTTTTGTGTGTGCTTCTTGACTATTTTCTTGAGCCAACAAGCA AAAGGGTTTTGGTTATTGCTACCAATAACCAAATAACCAGAGAGTGTTAT GCCTCTCTCATGGCCAGTGATGCCCTTCTGAGATTCCAGCTTCATGACTT AGTTCAAGCTCCCTCCCTGTGCAGCTGGAGGTTGTATCGTATGTCTGGGA ATAGATATTAAACTGTACCTCAAGCCCCTGGCACGTGTGCATGGGTGGGG TTGAAAAGAAGAGGCTGATAGGGGGAGGAGCACCCACAGAATCAATTCCT CGAGTTCCCTAGTGAAGAAAGAGAATTCTTGCTTTTTAGATCCTTGAGTC CAGATCTAGGGGGGATTTCTTTTTTAGCTTTTGAGTTCATATAATTGTGT GTGTGTGTGTGTGTGCACGTGTGTGTGTGTGTGTGTTTATGTGACATTTT GTCCAGAATTCCTGTGGAGTGGGAAAGTGGCTATTTGTCATCAGTTAAAT TGGCCAAGTTGCTAGAATAAGCCACTTTTTTTTTGCCTTTGTACATAATC TGTCTTCTAGAAAATCTTTCTTCTGCCACATTTAACTGATATACTCTTGC CCATTCTATAAGTTCCAGTTCAACTCTTTCTTTTTCTGTCCAGATATCCT AAGCTCTCTAGGAGGAATCAAGTGCTCTTTTTTTTGTGTGTGTGCCAACC CCATCCTTTGTACACATCCCACATTCTACTACTGTAGCAATAATATATAT TCTTTTTTACATGTCATGACTTAGCACAATTGCAACATAGTAAGTGCTAA AAACATTAGGTAAATTAAATAAATTAATGAGCAAACTCGTGGAAATGTAA ATTGTATTGCAAATTCATCTGCACTTTTTGACAATGTTAAATTGATACAT TACAATGTGCTATGTTGTTATTAGTCTCAGACATAGTAGGTGCATTTTTT TCCATCTAGTGGAGCATAAAACAAGCAAATGAGACTCCATCTCAACTGTT TATTTAACATTCTTTAATCAAAGAATGAAAGCCAGTTGGACATTTTCTAT GGAAACAGAAACACAAAAAGCAATCCATACCCCATGTAATGAAAAAGATA AAAACTATTTGAGGCCAAAGCATAGTCTGAATATTAAGAATGAAAGGTCT GTATTGTGTTATATTCCTTTATGTCTGAATGATTTCTAGTGAAAGGATGA GAGTCATTTAATTATGAGCCAGAAAAGATTTCTCATAGCAGTAAAGAGGA ACAATACTTTATTAAATAGGAGCTTATTACTTACTATGCAATCAATATTT TAGAGAGTTAGACAGGAAAATGGTTTTTGCCCATGAAAAATGACATTTCC TACACAATGCAATTGTTTTTAAGATTAAGTTGTTCAAATGTAATATGTGA TTCATGCCTGAGAATATTTATAAAATATATGTAAGTCACACCATATAATG AAATGGACAACTAGTAAAGCTAATATCAAACAATAAACTGATCATTATTG ATAAAAGTATGCATCTCCTTACTTGCCCCACCTCATTCCATCCCCTTTGT CCTCACCACAGTCACTCATCCCCACCAAATTTAACCACTATTCTGAAATT TTCAATTATTCTTTTGCTTTTATGTATTTCTCTGTTTGATCACATATACT TATATTTGTCCTGATACATTT	G G	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0214 a0004c0007t0006g0214	1	308	0.0033	-1770	c.164 others(19): Show c.1643+2382_1643+4151del		DTHD1	ENSG00000197057.10	transcript	ENST00000639862.2	protein_coding	5/9						chr4	TogoVar
SPRYD7_chr13_49907702_49941340	49938982	AGTCACAT others(1762): Show AGTCACATCTTCAATGAAAAGCCAGACACTAAATGGCCGTGAATTGGACA TTACTATAGAGAGGCAGAAGGGCCATAGTCTTTCCTAGCTGGAAAAGTAA TTTGCTGGGGCGCTGCCCGGTGCACTTTGCCCCCATCCTAGCAACTCGAG TGTGCTCAGCAGAATGAAGTTAGCAAAACTGGTTAGCTCCTGAAACAGAC TTCCCTGTCTTGGCAGATTAACACCATCCATGAGCTCACTTTTCCTTCTA ATATCTGGGATTCTAATATCCATTCATTATTACTTTCAAAGGAATTATCC TCTCTTTTTGAAAAGCACAACGTTAAAGATGTTTTGACACTCTTTCACAG CTATCGCTTTAAATAACAATCACAAATAAAGCCAAAAATAGTTTCTCAAG GTCATTTATCTAAGTCATAAGCAATAAGAAAGAATGACTACTTCAAAAAA AGAGTCTGTCTGCTTCCAAGACATGCCAGGAACTCGAGAACTGAGAACAA TAATGTAAAGCTTGTGTTTCAGAGTTGAGATTAGCATTATGCTTAAGATT TTCTTTAATGTTTTTTATGCCAGCTGGACGTCTTCTGTTAGTGAATTTCC CATTCTGTACTGGGTCATACGAAATGAGTTTTTAAAAACTCATTAATCAG TTATTAAACAAAACATTTTTCCTTAGACTAATCCAAACCACATTTGTGAT CTTTTTAAAAATCAGAAACATTAACAAAAACTCATTTTTCTAAAAACTGA CATATTTCTGGAGCCTTGACCAATTCATTATTATAATTTTGAGTAACTAA TAGTGATTGACATTTATGTAGTGCTTATTATTGCCAGGCACTGTTCTAAG TGTTTTTTAAAAATAAACTAATTTAGTCTTTGTAACAACCATGTGAGGGA AAAACTATCCTCCACTTTACAGATGAGGAAGCTGAAGAAAAAATAAGAAA TGTACTCAAAAGTTGCACAGTCAATGAAGGATGAAGCTAAATTCAAACAG ACATTCTGGCTCTAGGGTCTGTGTTCTTAACCACTCTGCAAACTGCCTCC TAGGGTGTTACATTTAAAAATACATTCCTAGGTCTGGTGCGGTGGTTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGATATGGACTGCCTGAGC TCAGGAGTTCGAAACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACT AAAAACAAACAAAAAAATTAGCCGGGCATGGCAGTGTGTGCCTGTAATCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAGGCGGA GGTTGCAGTGAACCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGA GCAAGACTCTATCTCAAAAAAAAAATAAAAAAATAAAAAATGAATATACA TTCCTAATTTGTATTTGTCTCCTTCTATCCCCTTTCCTCAGAGACTGACA TTTAAATTTACTTGGCATGAATTGTGCTCATTTAATCTGGATTTCCTGAA TTATAAGTTATATTACCTAGATTGAACAACCAAAAATAAATAAGGAAAAT AACGTCAACCTTGTAACTGCAACAGACTGCCATTAGTTGGTTCTCTTAGC GGTGCCTTTGAATATTAATATTTTGCAGGTTTGTCCTTAACAGGCTGTCT CTACCGGAAAAAAAAAACGATATTTAGTACTTTTTTTCTTCTTTTTCTTT TTTTGAGACAGGGTCTCACTCTGTTGCCCAGACTGGAGTGCAGTGGCACC ACCACGCCTGGCTAATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01167.hp1 others(7): Show HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG02145.hp1 HG02257.hp2 HG02896.hp1 HG03195.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 others(3): Show a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0020g0068	10	380	0.0263	-1769	c.-45 others(11): Show c.-4516_-2748del		SPRYD7	ENSG00000123178.16	transcript	ENST00000361840.8	protein_coding					2643		chr13	TogoVar
TAF11L8_chr5_17585364_17595960	17587249	TGGCTTTC others(1762): Show TGGCTTTCTCACAAGAAATACTACTCTGGTGAAACTCTGTTGCCTTTCGT ATGTGTTTTCCGTCTTTTGGCTGCAGGAGGAGTTGAGGCTGAGGCCTCAC TGTCACCTTCTGTGAGGTCCATGACATCCTCACTCCTGAGCTCACCTTCC TGATCCCTGGGTGCTTCCAAGTTCCCGTCTAGGTCCTCAGGGATTCCATC CTTCTTGCTGCCCTTCAGACCTCGGGGCATGGCGAGCATCTCAGCAGACA CACCTGTTTGCCTGCCGGTCTCCATGGGTGAGATTCAAGTCTGCTCCGTG ACAGCAGCTGTACAGGCAGAAGTTCCGGCTGGGGTGGTTTGATTGTGGAT CTGCGATGAGAACCTTTCAAAGATTTTAGCTGCTGTGTTTCTGCTGAGCC AGTTTCGCCGTAACCGGACACGGCTCCCGGCCGCCCCTTCCCACACACAA ACACACACACTGAATTTTCTCGCTTCCACAGTGTGAAGAAACTTGTGGAA GGAGAGTATGTTAGTTTTAGGTCAATGCAGAACGAATTCTCACCAATTTT GGGTATTTAAAACAAACACCAGCTCACAGGTCAGAAGTTCTGCTAGGCCA AGTGACTGCCTCCTGCTCAGAGTCCCACGAGGGACCTCCAGGATGGGTCT GGCTGTGCGGTCGTTGCCTCCACCTGAGAAGGGTCTGGCTTCGATCCGAT TCGAGTTGGTGGCAGAATTCAACAATGCCTCAGGGTTGCGAGCCCCAGGC CCACTTGTTTGTTCTGCCTGCTGCCGTGAGGATGCTCTCAGCTCCTACCC GTGCTGCCCAGGTCTGGGCCGTGAGGCTCCCTGGGTGTGCACAGCCAGTG CTGGGGAATCTCCCACAGGGGAGCGTAATCACAGGGGGGTCCAGTCCTCC CTTATAAAGGGCTCTGATGACTGCATTAGACCCAGCCCTTAGCAGCCGTT GGTTCAGGATACCCCCCAATCTAATGAGGAAGTCGGGCGGGCACATCAAT TCGTGCTTCCGCCCATACCCAAGGGAGGGGCAGACACAGGGCGACTCTCT GAGGGGCGGGAAATGCAGGGGGCATTTCAGAATTCAGTCCTCTTCACAGA ATCGCAAAGTTCACATCTCACAACAGTAAAGAAAGTATTTACAGTAAAAA TGAGACATTTTACGAAGTTGAGCATTAGAAAACTTCGATGTCTGAGAAAA AAAACTCTCTAACGCACAGGGAAGAAAGCGGTTTATCAAATACTCTGAAA ATAAAATGGGCTGGGTGAGGGAAACGTGAAAATATTATTTTCAATTTTAT TTTACGTCACTTTATTTTAGTTTATTTTATTTTATTTTGTTTATTTTCTG AGACAGTGCCTCGCTCTGTCCCCCAGGCTGGATTATAGCGGCCTCATCTC AGCCCACTGCAGCCTCGGCATCCTAGGCTCAACGGATTCTCCTGCCTCAG CCTCCAGAGTGGCTGGGACTAAATGTGCGCGCTACCACGCCGGGCAAATT TTTGTATTTGCTCAAGTAGAGACGAGGTCTCGCCATTTTGGCCAGGCTGG TCTTGAACTGCTGACTTCAGGTGATCTGCCCCACCTTGGCTTCCCAAAGT GAAGGGACTATAGGCGTGAGCCACCGCGCCCAAACTATGATAGTTTCACA CTGAAGCCTGACGCTGCTCTGCCTTAGGATTTTTCCTGAGTTTTACTTCC TTGTCAGGATGAGTTGCTAGTTCATATTTTCTGTTGGATCTTTTAGAAAG GCGTTACTGATGAGATTATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	102	0.0098	-1769	c.13 others(11): Show c.1346_*3114del		TAF11L8	ENSG00000283967.1	transcript	ENST00000640803.1	protein_coding					3114		chr5	TogoVar
DLGAP2_chr8_732628_1713476	1641907	CCCCGCCG others(1761): Show CCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCACCTG TGTCACCCTCGACCCCGCCGGTCCCCACCTGTGTCACCCTCGACCCCGCT GGTCCTCACCTGTGTCACCCTCGACCCTGCCGGCCCCCACCTGTGTCACC CTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTC ACCTGTGTCACCCTCGACCCTGCCGGTCCTCACCTGTGTCACCCTCGACC CCGCCGGTCCCCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTG TCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGG CCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCT CGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCTCAC CTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCC GCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTC ACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCAGCC CTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCG ACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCT GTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGC CGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCAC CCTCGAACCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCT CACCTGTGTCACCCCTCGAACCCGCCAGCCCTCACCTGTGTCACCCTCGA CCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTG TGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCCCC GGTCCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCACC CTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTC ACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGACC CCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTG TCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGG CCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCT GGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCAGCCCTCAC CTGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCC GCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTC ACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCC CTCACCTGTGTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGG AACCCGCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCT GTGTCACCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGC CGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGTCCTCACCTGTGTCAC CCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCT CACCTGTGTCACCCTCCAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	-1768	c.181 others(20): Show c.1810+8870_1810+10637del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
TAF11L8_chr5_17585364_17595960	17586866	CAGCGGCC others(1761): Show CAGCGGCCTCATCTCAGCCCACTGCAGCCTCGGCATCCTAGGCTCAACGG ATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGGACTAAATGTGCGCGCTAC CACGCCGGGCAAATTTTTGTATTTGCTCAAGTAGAGACGAGGTCTCGCCA TTTTGGCCAGGCTGGTCTTGAACTGCTGACTTCAGGTGATCTGCCCCACC TTGGCTTCCCAAAGTGAAGGGACTATAGGCGTGAGCCACCGCGCCCAAAC TATGATAGTTTCACACTGAAGCCTGACGCTGCTCTGCCTTAGGATTTTTC CTGAGTTTTACTTCCTTGTCAGGATGAGTTGCTAGTTCATATTTTCTGTT GGATCTTTTAGAAAGGCGTTACTGATGAGATTATGGCTTTCTCACAAGAA ATACTACTCTGGTGAAACTCTGTTGCCTTTCGTATGTGTTTTCCGTCTTT TGGCTGCAGGAGGAGTTGAGGCTGAGGCCTCACTGTCACCTTCTGTGAGG TCCATGACATCCTCACTCCTGAGCTCACCTTCCTGATCCCTGGGTGCTTC CAAGTTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTTGCTGCCCTTCA GACCTCGGGGCATGGCGAGCATCTCAGCAGACACACCTGTTTGCCTGCCG GTCTCCATGGGTGAGATTCAAGTCTGCTCCGTGACAGCAGCTGTACAGGC AGAAGTTCCGGCTGGGGTGGTTTGATTGTGGATCTGCGATGAGAACCTTT CAAAGATTTTAGCTGCTGTGTTTCTGCTGAGCCAGTTTCGCCGTAACCGG ACACGGCTCCCGGCCGCCCCTTCCCACACACAAACACACACACTGAATTT TCTCGCTTCCACAGTGTGAAGAAACTTGTGGAAGGAGAGTATGTTAGTTT TAGGTCAATGCAGAACGAATTCTCACCAATTTTGGGTATTTAAAACAAAC ACCAGCTCACAGGTCAGAAGTTCTGCTAGGCCAAGTGACTGCCTCCTGCT CAGAGTCCCACGAGGGACCTCCAGGATGGGTCTGGCTGTGCGGTCGTTGC CTCCACCTGAGAAGGGTCTGGCTTCGATCCGATTCGAGTTGGTGGCAGAA TTCAACAATGCCTCAGGGTTGCGAGCCCCAGGCCCACTTGTTTGTTCTGC CTGCTGCCGTGAGGATGCTCTCAGCTCCTACCCGTGCTGCCCAGGTCTGG GCCGTGAGGCTCCCTGGGTGTGCACAGCCAGTGCTGGGGAATCTCCCACA GGGGAGCGTAATCACAGGGGGGTCCAGTCCTCCCTTATAAAGGGCTCTGA TGACTGCATTAGACCCAGCCCTTAGCAGCCGTTGGTTCAGGATACCCCCC AATCTAATGAGGAAGTCGGGCGGGCACATCAATTCGTGCTTCCGCCCATA CCCAAGGGAGGGGCAGACACAGGGCGACTCTCTGAGGGGCGGGAAATGCA GGGGGCATTTCAGAATTCAGTCCTCTTCACAGAATCGCAAAGTTCACATC TCACAACAGTAAAGAAAGTATTTACAGTAAAAATGAGACATTTTACGAAG TTGAGCATTAGAAAACTTCGATGTCTGAGAAAAAAAACTCTCTAACGCAC AGGGAAGAAAGCGGTTTATCAAATACTCTGAAAATAAAATGGGCTGGGTG AGGGAAACGTGAAAATATTATTTTCAATTTTATTTTACGTCACTTTATTT TAGTTTATTTTATTTTATTTTGTTTATTTTCTGAGACAGTGCCTCGCTCT GTCCCCCAGGCTGGATTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01981.hp2 others(4): Show HG00438.hp1 HG00438.hp2 HG01981.hp2 HG02132.hp2 NA19057.hp2 NA19086.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0000 a0003c0010t0000 a0001c0001t0000 a0003c0010t0000	a0001c0001t0000g0000 a0003c0010t0000g0000 a0001c0001t0000g0000 a0003c0010t0000g0000	7	102	0.0686	-1768	c.17 others(11): Show c.1730_*3497del		TAF11L8	ENSG00000283967.1	transcript	ENST00000640803.1	protein_coding					3497		chr5	TogoVar
TAF11L8_chr5_17585364_17595960	17586870	GGCCTCAT others(1760): Show GGCCTCATCTCAGCCCACTGCAGCCTCGGCATCCTAGGCTCAACGGATTC TCCTGCCTCAGCCTCCAGAGTGGCTGGGACTAAATGTGCGCGCTACCACG CCGGGCAAATTTTTGTATTTGCTCAAGTAGAGACGAGGTCTCGCCATTTT GGCCAGGCTGGTCTTGAACTGCTGACTTCAGGTGATCTGCCCCACCTTGG CTTCCCAAAGTGAAGGGACTATAGGCGTGAGCCACCGCGCCCAAACTATG ATAGTTTCACACTGAAGCCTGACGCTGCTCTGCCTTAGGATTTTTCCTGA GTTTTACTTCCTTGTCAGGATGAGTTGCTAGTTCATATTTTCTGTTGGAT CTTTTAGAAAGGCGTTACTGATGAGATTATGGCTTTCTCACAAGAAATAC TACTCTGGTGAAACTCTGTTGCCTTTCGTATGTGTTTTCCGTCTTTTGGC TGCAGGAGGAGTTGAGGCTGAGGCCTCACTGTCACCTTCTGTGAGGTCCA TGACATCCTCACTCCTGAGCTCACCTTCCTGATCCCTGGGTGCTTCCAAG TTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTTGCTGCCCTTCAGACC TCGGGGCATGGCGAGCATCTCAGCAGACACACCTGTTTGCCTGCCGGTCT CCATGGGTGAGATTCAAGTCTGCTCCGTGACAGCAGCTGTACAGGCAGAA GTTCCGGCTGGGGTGGTTTGATTGTGGATCTGCGATGAGAACCTTTCAAA GATTTTAGCTGCTGTGTTTCTGCTGAGCCAGTTTCGCCGTAACCGGACAC GGCTCCCGGCCGCCCCTTCCCACACACAAACACACACACTGAATTTTCTC GCTTCCACAGTGTGAAGAAACTTGTGGAAGGAGAGTATGTTAGTTTTAGG TCAATGCAGAACGAATTCTCACCAATTTTGGGTATTTAAAACAAACACCA GCTCACAGGTCAGAAGTTCTGCTAGGCCAAGTGACTGCCTCCTGCTCAGA GTCCCACGAGGGACCTCCAGGATGGGTCTGGCTGTGCGGTCGTTGCCTCC ACCTGAGAAGGGTCTGGCTTCGATCCGATTCGAGTTGGTGGCAGAATTCA ACAATGCCTCAGGGTTGCGAGCCCCAGGCCCACTTGTTTGTTCTGCCTGC TGCCGTGAGGATGCTCTCAGCTCCTACCCGTGCTGCCCAGGTCTGGGCCG TGAGGCTCCCTGGGTGTGCACAGCCAGTGCTGGGGAATCTCCCACAGGGG AGCGTAATCACAGGGGGGTCCAGTCCTCCCTTATAAAGGGCTCTGATGAC TGCATTAGACCCAGCCCTTAGCAGCCGTTGGTTCAGGATACCCCCCAATC TAATGAGGAAGTCGGGCGGGCACATCAATTCGTGCTTCCGCCCATACCCA AGGGAGGGGCAGACACAGGGCGACTCTCTGAGGGGCGGGAAATGCAGGGG GCATTTCAGAATTCAGTCCTCTTCACAGAATCGCAAAGTTCACATCTCAC AACAGTAAAGAAAGTATTTACAGTAAAAATGAGACATTTTACGAAGTTGA GCATTAGAAAACTTCGATGTCTGAGAAAAAAAACTCTCTAACGCACAGGG AAGAAAGCGGTTTATCAAATACTCTGAAAATAAAATGGGCTGGGTGAGGG AAACGTGAAAATATTATTTTCAATTTTATTTTACGTCACTTTATTTTAGT TTATTTTATTTTATTTTGTTTATTTTCTGAGACAGTGCCTCGCTCTGTCC CCCAGGCTGGATTATAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	102	0.0098	-1767	c.17 others(11): Show c.1727_*3493del		TAF11L8	ENSG00000283967.1	transcript	ENST00000640803.1	protein_coding					3493		chr5	TogoVar
PCGF3_chr4_700832_775089	745270	CGGGGGTC others(1759): Show CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG GTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03516.hp2 NA18906.hp1 others(1): Show HG01884.hp2 HG03516.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0315 a0001c0001t0004g0316 others(1): Show a0001c0001t0004g0244 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0359	4	366	0.0109	-1766	c.462 others(16): Show c.462+587_462+2352del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
DNASE2B_chr1_84393484_84420018	84417289	TAGAAAAC others(1758): Show TAGAAAACGGGATAATTTTATTGATTCCCTTTAGGAAAAACGAGGAGAAT ATGGGAGATATTAATGAATGAAATTTAAGTTCTAAATCATGATTTTAAAT ACCGGAATGAAATTAACCAGGCATGGTGGTGAGTGCCTGTAGTCCTAGCT ACTCAGGAGGCTGAGGTAGGAGGATCCTTTGAGCCGAGGTGTTTGAGGTT ACAGTGAGCTATGATCACACCACTGCACTCCAGCTTAGGCAACAGAGCAA GACCTTGTCTCAAAACAGAAACAAAAACAAACCCCCTCCAAAACTAGAAT GACGTATTTCACTTAATGTAATGTCCTCCAGGCTTATACATGCTGTTGCA CATGACAGGATCTCATCCCTTTTTATAGCTGAATAGTATTCCACTGTGTA TATATACCACATTTTCTTTATCCATTCTTCCATTAATGGGCATTTAGGTT GATTCCACATCTTGGCTATTGTGAATAGTACTGCAATAAACATGGGAGTG TAGATGTCTCTTTGATATTCTAATTTCATTTTCTTTGGATATATACCTAG TAGTGGGGTTGCTGAATCATACAGTAGAGCTACTTTTAATTTTTTGAGAA ACTTCCATACTGTTTTCCATAATAGCTGTACTGATTTACATTCCCACCAA CAGTGTGTAAGAGTTTCCCTTTCTCCTCATCATCACCAGCATTCATTATT TTTTGTCTTTTTGATAATAGCCATTTTAACTGGGGTAAGATGATATCACT GGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCG GGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAATGAACATGGAG AAACCCTGTCTCTACTAAAAATACAAAATTAGGTGGGTATGGTGGCTCAT GCCTGTAATCCTATCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CTGGGAGACGGAGGTTGTGGTGAGCCAAGATTGTGCCATTGCACTCCAGC CTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAACACACACAA AAAAAAAAACAGGATGATATCTCATTGTGGTTTTGATTTGCATTTTTCTG ATGGTTAGTGACTGATATGGTTTGGCCATATCCCCACTCAAATCTTGAAT TGTAGCTCCTATAATTCCCATGTGTTGTGGGAGGGATCCAGTGAGAGGTA ACATAATCATGAGGGTGGGTCTTTCCCATGCTGTTCTAATGATAGTGAAT AAGTCTTAAGAGATCTGATGGTTTTATAAATGGCAGTTCCCCTGCACACG CTGTCTTGCCTGCTGCCAGGTGAGACATGACTTTGCTCGTCCTTTGCCTT CCACCATCATTATGAGGCCTCGCCAGCCAAGTGGAACTGTGAGTCCGTTA AACCTCTTTTTCTTTATAAGTTGCCCAGTCTCTGGTATGTCTTTATGAGC AGCATGAGAACAGACTAACACAATGACATTGAGCATTTTTTCATGTACCT GGTGGCCCTCTGTATGTCTTCTTTGGAGAAAAGACTACTCAAGTCTTTTG CCCATTTTTAAATCAGATTATGTTTTTTACTAATGAGTTGAATTCCTTAT AAATACTGGATATTAATCCCTTGTCAGGTGTATAATTCACAAATATTTTC TCCTATTCTGCAGGCTGTCTGTTCACTTTACTGATTTGTTTCCTTTGCTA TAAAGAAGCTTTTTGGTTTGATGTAGTCCCAATTGTTTATTTTTGTTTCT GTTGCTCATGCTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	426	0.0024	-1765	c.24 others(11): Show c.2422_*4186del		DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding					2272		chr1	TogoVar
GNB1_chr1_1780286_1896087	1842390	CCTGCACT others(1758): Show CCTGCACTCCAGCCTGGGCGGGGTGACAGAGTGAGACTCCATCTCAAAAA AAAAAAAAAAAGAAGTCCTGGTCCTGTCTCTGCTAGAACACAGACAAACC TCACAAATATGCTAAGTGACAGATGCCATACACAAAAAGCCACATATATA CAACCCCATTTACATGAAATATCCGGAACACACAAATCCAAAGAGACAGA ATGCAGTGGTTGCCAGGGGCTGCATGTGTCTGCGTGTGCATGCACATGTG TGTGCAGTGGACAATTATTTAATGGGTACAGGGTTTCCTTTTGAGGTGAT GAAAATGTCATGGAATTAGCTAGAGACGGTGGTTGCAACACATTGTAAAT GTACTAAACGGCACCGAATCATTCACTTTAAAATGGTTTATGTTATGTGA ATTTCACCTCAGAAAAAAAGTTGGGTGTGAAAAGGCACACAGGAGTAAAC AGTGAATGATGCAAACTACCCCAGACTTCAGGAAGCGAAGCCTCGCTCCG GGGCAGGGTCCTATGAGCATACCCGAAAAGTGCCACCAAATCAAGTTTCA AAGCATGGGTCTCAACCTCAGCACAATGAACATTTTAGGCAGGGGTGTGT GTGTGTCCCCAGGAGGATATCTGGCAGCATGCCAGTAGTGCTCCTTTCCC CAGCTGTAACAGCCACCTGGCATCCCGAGAGGCAATACTGACCCCAGTTG AGAACTCTTCAACTGTCACAATTATCTCAACCACTAAATATAAATCTTTT CAAGTACTTTCCAGATCAAGGGACAGGTAGGAAGAGAAATACTACTAAAA AAAATTATACATAATCTGCTCTATTTTATCATTATTAATTATTTTTTTGA GACAGGGTCACCCTCTGTCAGCCAGTCTGGAGTACAGTGGCACAATCATG GCTCACTGCAGCTTCGACTTCCTGGGCTAAGGTGATCCTCCTGCCTCAGC CTCCTGAGTAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAATTA AAAAATATATATATATTTGTAGACATGGGGTCTTGCCATACTGCGCAGGC TGGTCTTTAACTCCTGGGCTCAAACGATCCTTGCAGGTCGGCCTTCCACG GTGCTGGGATTGCAGGCACAAGGCACCGCACCCAGCTGCTCTATTTTAAT GCCTAGATTGCCCTGTGGCTCAAATCATGACTCAAGATTGGAGTAAGGAT GCTAAAAGTGCTATCAAATCACCTTAGCCTGGATTCACATGGAGAGTTGT CTGGACCCATTTCTGGCTAAAAACAAGATGACCCAAATGTATGCTCTTTT TCTGACTATCCAGCTCATAGAACCCCACACTAAGGACAGGACTACCAGTC CCACAATAATGTAACCCTAAACCAGTAGCACTACCCTTAAAGAACATCAG GAGCTGGGCTCGCACCTCCCAGTGCTTTGGGAGGCCGAGGCGGGTGGATC ACCTGAGGTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTC TCCACTAAAAATACAAAAATTACTGGCCGGGTGCGGTGGCTCATTCCTGT AATCCGAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACTCGATGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGG GAGGGTGAGGCAGGAGAATGGCGTGACCTCGGGAGGCAGAGCTTGCAGTG AGCTGAGATTGCGTCA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	336	0.0030	-1765	c.-95 others(17): Show c.-95-4917_-95-3153del		GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11						chr1	TogoVar
PCGF3_chr4_700832_775089	744929	CGGGGGTC others(1758): Show CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0217 a0001c0001t0021g0217	1	366	0.0027	-1765	c.462 others(16): Show c.462+246_462+2010del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
TAF11L8_chr5_17585364_17595960	17586955	GTGCGCGC others(1758): Show GTGCGCGCTACCACGCCGGGCAAATTTTTGTATTTGCTCAAGTAGAGACG AGGTCTCGCCATTTTGGCCAGGCTGGTCTTGAACTGCTGACTTCAGGTGA TCTGCCCCACCTTGGCTTCCCAAAGTGAAGGGACTATAGGCGTGAGCCAC CGCGCCCAAACTATGATAGTTTCACACTGAAGCCTGACGCTGCTCTGCCT TAGGATTTTTCCTGAGTTTTACTTCCTTGTCAGGATGAGTTGCTAGTTCA TATTTTCTGTTGGATCTTTTAGAAAGGCGTTACTGATGAGATTATGGCTT TCTCACAAGAAATACTACTCTGGTGAAACTCTGTTGCCTTTCGTATGTGT TTTCCGTCTTTTGGCTGCAGGAGGAGTTGAGGCTGAGGCCTCACTGTCAC CTTCTGTGAGGTCCATGACATCCTCACTCCTGAGCTCACCTTCCTGATCC CTGGGTGCTTCCAAGTTCCCGTCTAGGTCCTCAGGGATTCCATCCTTCTT GCTGCCCTTCAGACCTCGGGGCATGGCGAGCATCTCAGCAGACACACCTG TTTGCCTGCCGGTCTCCATGGGTGAGATTCAAGTCTGCTCCGTGACAGCA GCTGTACAGGCAGAAGTTCCGGCTGGGGTGGTTTGATTGTGGATCTGCGA TGAGAACCTTTCAAAGATTTTAGCTGCTGTGTTTCTGCTGAGCCAGTTTC GCCGTAACCGGACACGGCTCCCGGCCGCCCCTTCCCACACACAAACACAC ACACTGAATTTTCTCGCTTCCACAGTGTGAAGAAACTTGTGGAAGGAGAG TATGTTAGTTTTAGGTCAATGCAGAACGAATTCTCACCAATTTTGGGTAT TTAAAACAAACACCAGCTCACAGGTCAGAAGTTCTGCTAGGCCAAGTGAC TGCCTCCTGCTCAGAGTCCCACGAGGGACCTCCAGGATGGGTCTGGCTGT GCGGTCGTTGCCTCCACCTGAGAAGGGTCTGGCTTCGATCCGATTCGAGT TGGTGGCAGAATTCAACAATGCCTCAGGGTTGCGAGCCCCAGGCCCACTT GTTTGTTCTGCCTGCTGCCGTGAGGATGCTCTCAGCTCCTACCCGTGCTG CCCAGGTCTGGGCCGTGAGGCTCCCTGGGTGTGCACAGCCAGTGCTGGGG AATCTCCCACAGGGGAGCGTAATCACAGGGGGGTCCAGTCCTCCCTTATA AAGGGCTCTGATGACTGCATTAGACCCAGCCCTTAGCAGCCGTTGGTTCA GGATACCCCCCAATCTAATGAGGAAGTCGGGCGGGCACATCAATTCGTGC TTCCGCCCATACCCAAGGGAGGGGCAGACACAGGGCGACTCTCTGAGGGG CGGGAAATGCAGGGGGCATTTCAGAATTCAGTCCTCTTCACAGAATCGCA AAGTTCACATCTCACAACAGTAAAGAAAGTATTTACAGTAAAAATGAGAC ATTTTACGAAGTTGAGCATTAGAAAACTTCGATGTCTGAGAAAAAAAACT CTCTAACGCACAGGGAAGAAAGCGGTTTATCAAATACTCTGAAAATAAAA TGGGCTGGGTGAGGGAAACGTGAAAATATTATTTTCAATTTTATTTTACG TCACTTTATTTTAGTTTATTTTATTTTATTTTGTTTATTTTCTGAGACAG TGCCTCGCTCTGTCCCCCAGGCTGGATTATAGCGGCCTCATCTCAGCCCA CTGCAGCCTCGGCATCCTAGGCTCAACGGATTCTCCTGCCTCAGCCTCCA GAGTGGCTGGGACTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	102	0.0098	-1765	c.16 others(11): Show c.1644_*3408del		TAF11L8	ENSG00000283967.1	transcript	ENST00000640803.1	protein_coding					3408		chr5	TogoVar
DLGAP2_chr8_732628_1713476	1401497	GCTCCCTC others(1757): Show GCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCACTC CCTCCTTGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTG TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCT CCAGAGTCGTGCATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTG CTTACTGAGTGCCACCTCCTCATCCTCCGGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGA GCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGC CCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACC TCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT CATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTT CTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCC GGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAG TCGTGTATTGCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCT CGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTC CTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCC AGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTGAGCGCCC CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTG TCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAG AGTCGTGAAGAGAGTGTAAAATCGCTGATCACTCCAGGTGGTGAAGGGTG GATGTGAAGTAAGGAGATTAAGGCGACTTACTCGTCGTCCTGCGTAGTGA AGAGATTGTAAAAAGAGGGCTACATCCAAGTCCTCATGCGTGGAGGATGA ATTGAGAAGATCCCC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	-1764	c.107 others(19): Show c.107-99867_107-98104del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
GNA14_chr9_77418079_77653322	77616901	ACTCTGTC others(1757): Show ACTCTGTCGCCCAGGCTGGAGTGTGGTGGCACGATCTTGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCTTCAGCCTCCTGAGTCG CTGGGACTACAGGCACCCACCACCACGACCGGTTAATTTTTTTGTATTTT TAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTG ATCTCACAATCCACCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCG TGAGCCACTGCGCTCGGCCTCTAGCCACAATGTGGTTATAATTGTGAATG GGATATTCACAATTATAAAGATGTAGCAACCTGAAAATGTCTAAAAACAG AACTGTTTGTTGACTGTCTACCTCCACCCCCTCACTCCACCAAATCCATT CTCCAACCTCTCTCACCCATCTCAGTAAGTGACACTACCAAGGACCCAGT TGCCTGAGCCAAAAACCTGGGAGTCATCCTGATGACATCCTTGCATACTC CTGGGCCATCTACCAATACATCCAATCAACTCTACCTTCAGAACGTATAT CAAATCTAACCAATTTGATCAACCCCCTTCACTTTTATGCTAGTCCAAGT CACCATGACAGGTCACCTGGACATTCCATAACATCTCAACTGGTCTTCCT GCCTCCACCATTACCACATGTTATCTGTCCAGCAATCAGAGCTTTCTTTT TAAAAAGACCATCAAATCACTTCTCCACGCCAATCATGACTCTTCTTGGC CTCCCCTAACACTTAAATTAAAATCCAAACTCCTACTTCCCAGCCATGCT GCCTATCACTCTCTCTCTTGCTCAACTCCAAACACAATGCGTTCCTGTTC TTCCTCAAACCCACCAAGCCCATTTCCACCTCAGGCTGTCTCCCCAGCCT AGAATGCCCAGTCACTTCCTGGTACATTGTTCCCTGGGTCTTCATATAGT TTATACCATCTCTTAATCCAGTCTCCCCTCCATTGTCACCCTTCAGAGAA TTACTCCTGGCAAAATTAGGCCCACCAGTTCCCAGGTCTCCAGCCTCCAC TCTCTAATCTCTTACTCTGCTTTATTCATAGTACTTACCTAACCCAAAGG CATCCTTCATGTCTATTTACTGTTAAATCACAGTAAAGACACCATAAGAC CAGGGCCTTTGTTCTCTTCTAAGTACCTGAGGCCTAGAATAGGACCTAGC CCACAGAAAGCTCTCAGATATTTGAAGGACTAATTGATTTAAAAAACAAC AACAACAACAAAACCCACTAAAGCATGGCTGCTTTCTGAAAATCTTCTCT CATAGCACACATTCTCTTGACACTGCTTTGCCTTTGTGATTCTTAAAGGA TCATTTCATTGTTGAATTAGTATCTTAAAATGTTTTCTCCGTGCTACTGA AGCAGGTAAGAAACAAGTGATCTCATAAAGGTAAACTACTTAAGGAGCAC AGGTGCTTCTCATGATAGATTTCTAGAATTTCAGATCTAAGGTTTTAGTG ATGATCCATTGCTATGGTCTCATTTTACAGTAGCTCTCCAGGGTTCGGTG CTGTGCTGTCTAATATGGTACCCAGTAGTTACGTGGAGCCATTGTGTACT TAAAATGTGGATAGTGAATGAATATAAGGTATCTCACTGAAAATTTTCAT TGTTGATTATATGCTGGATGATTACATTTGAATATATATATATATATATA TATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01934.hp2 HG01070.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0162 a0001c0001t0003g0161 a0001c0001t0001g0162 a0001c0001t0003g0161	2	240	0.0083	-1764	c.124 others(19): Show c.124+29005_124+30768del		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
PCGF3_chr4_700832_775089	744756	CCCGGGGG others(1757): Show CCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18979.hp1 NA19080.hp1 HG03195.hp2 NA18979.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0061 a0001c0001t0001 a0001c0001t0061	a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0061g0006 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0061g0006	3	366	0.0082	-1764	c.462 others(15): Show c.462+71_462+1834del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744759	GGGGGTCG others(1757): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp2 HG03017.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0052 a0001c0001t0002 a0001c0001t0025 a0001c0001t0052	a0001c0001t0002g0172 a0001c0001t0025g0116 a0001c0001t0052g0037 a0001c0001t0002g0172 a0001c0001t0025g0116 a0001c0001t0052g0037	3	366	0.0082	-1764	c.462 others(15): Show c.462+93_462+1856del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744873	CGGGGTCG others(1757): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03579.hp1 HG02630.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0288 a0001c0001t0019g0356 a0001c0001t0004g0288 a0001c0001t0019g0356	2	366	0.0055	-1764	c.462 others(16): Show c.462+267_462+2030del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745215	GGGGTCGC others(1757): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0302 a0002c0002t0013g0302	1	366	0.0027	-1764	c.462 others(16): Show c.462+531_462+2294del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
TAF11L10_chr5_17592232_17602828	17599621	TGAGGTGA others(1757): Show TGAGGTGATGTCTTCTTTTAGTTTTTATATGTGTTTCTCTGAAGATTGGT GACGTCGAGTATATATATATGCCTGCTGGTCACTTGTATATCTTCTCTCC CGAGATGTCTATTATTTAGGTCCTTTGCCCAGTTTTAAAATTGTGTTGTT TCTTGCTGTTGAGTCCTTTGAGTTCATGGTATATTTTGAACAGTAACTAA TTAATCCCTTATTGGATATAGTGTTTGCAAGTATTTTTTCTCATGATGAT TTTGTCTCTTCATGGTGTTAATTATTTCTTTTACTGTGTAGAATTTTTTT TTTCATTTGGATGCAATCCATTTGTCTATTTTCCCTTGTGCTGCCTATGC GTTTGGGACATATTTCAAAAATTATTGGCGTAACCAATGTCAATGAGGAT GTCCCCTGTTTCCTTCTAGTAGGTTCACAGTTTAAAGTTTTGACTATAGT TTGTTTGATTCTTGTGTATGGTAAGAGATTAGGGCCCAATTTCATTTTAC TGCCGGTAGATACCCAGTTTCCTATCACCACTGATGGAAGAGACTGTCCT TTTGTCATTGTGTGTTGTTGGCGCATTTGTAAAACTGTAATTGGCTGTAC ACATTTCGAGTGATTTCTGGGCTCTCTGCTCTGTTCCATCGGCTTTGATT TCTGTTTCGATGCCATTCTTATGCCATTTTTGTTCCTACCGCTTGATAGA ATATTTTGAAACAAGGAAGGCATGGATTTTTTAATTTTCTCTATGGTTTG CCCTATGACAGCACCACTCAGACAGATGTCAAAGAGATATAGATTCTTTA CTTTTTCAGTTTTTTACTGATTGTTAAGACAGAGTAATGACATGGAATCT TTTTTATGGGCCATCCTGAAAACTGGAACTCCATTTTATTGTTGCTATAT GTTTATTAGAGTTTATCTTATTTTCAAGATATTTGATCAATTACTTGTTC ATATAATGACAAGTAGGGTTCAATTGTACAAAATATCCAATGGTCAAATC CTACAGAGAGAGAAAATTTTGTTTTTTATTTCTGTATTTCTTATATAATC ATTTGAAAAATAAAGTAAAAATAGAATATTATCTAGAATAAAATATAATA TTATTATATGCATTTCTGTTTTAAAGAAGGACAAAACAGAGATCAATATG TTATTTCAGTCATAAACAAAGGTTACTTTGGGACCAGTTCTTTGGAGGTG AAGGTGTGGAAATGAATGCAGAGGTTAGACAGGGTTTCTGGGGTCTTTGT TTCTCTGTCTAGTTTTCCATCTGGCTCCTAGAGTGTGTTACTATTCCAGC ATCCTCAAAGATCGCTCTCTGACATGAAACAATTTTGGCCAGAACGTGAA AAAAATCATCGTAGAGGAAAATCTGGTATTTAATTCAATTGTTTTTTTTT TGCAAGCTCAAAAACAGTTGATTCCCCAGACAAAGTTATGAAAAGTACAA ATGTTTATAAGGGGATCTATTCCAATGCTTTTAGAAAGCCAGGGCCTTCA GGAAAAAGTATTATAAGGGAAGACTCTGTTTTATCTCCTACAAGTCATAT AGAAGCAAAAACATCCTAAGTCATAGCAACTTCAGGATACAGTGTGATTT CATCATAGTCTCTGAAAAGAGTTTCCTTTTTCTTTGTAAAAACAGCTCAC CATTCACACGATGCTCGAGGCTCGTGTACCATTCTTCTCCCAACCAGGAT GCCCCAGAACAATGCCTTAGCATGCGTGGACCTCAGAGTTCCAAATATGA TGGTGATGATTGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	352	0.0028	-1764	c.-35 others(11): Show c.-3557_-1794del		TAF11L10	ENSG00000284356.1	transcript	ENST00000638842.1	protein_coding					1794		chr5	TogoVar
ZNF208_chr19_21961095_22015943	21971662	CGTACTAA others(1757): Show CGTACTAAAGCTTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAG TATGAATTCTCTTATGTTCCATAAGGTTTGAGGACCAGTTGAAAGCTTTG CCACATTCTTCACATTTGTAGGGTTCCTCTCCAGCATGAGTTGCCTTATG TTCAGTAAGTCTTGAGGGCCAGCTGAAGGCTTTGCCACATTCTTCACATT TGTAGGGTTTTTCTCCAGCATGAGTTGCCTTATGTTCAGTAAGGCTTGAG GGCCAGCTGAAGGCTTTGTCACATTCTTCACATTTGTAGGGTGTCTCTCC AGTGTGAATTTTCTTATGTTCCATAAGGTTTGATGACCAGTTGAAAGCTT TGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTACCTTA TGTTTAGTAAGGATTGAGAATGTACTAAAGCCTTTGCCACATTCTTCATA TTTGTAAGGTTTCTCTTCAGTATGAATTTTCTTATGATAACTAAGGGTTG AGGATGACTTATAGGCTTTGCCACATGCTTCACATTTGTAGAATTTCTCT CCAGCATGAGTTTTCTTATGTTTACTAAAGACTGACAACCAGCTGAAGGC TTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTACCT CATGTTTAGTAAGGATGGAGAACATACTAAAACCTTTGCCACATTCTTCA CATTTGTAGGGTTTCTCTCCAGTATGAATTTTCTTATGATAACTAAGGGT TGAGGGCCATTTATAGGCTTTGCCACATTCTTCACATTTGTAGGGTTTCT CTCCAGTATGAATTACCTTATGTTTAGTAAGGATTGAGAACTTACTAAAG GCTTTGCCACATTCTTTACATTTGTAGGGCTTTTCTCCAGCATGAATTGC CTTATGTGTAGTAAGGGTTGAGACCTTACTAAAGGTTTTGCCACATTCTT CACATTTGTAGGGTTTCTCATCAGTATGAATTCTCTTATGTTTAATAAGG ATTGCAGATCGGTTAAAAGCTTTGCCACATTCTTCACATTTGTAGGGTTT CTCTACAGTATGAATTTTCTTATGATAACTAAGGGTTGAGGACCACTTAT AGGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATT ACCTTATGTTTAGTAAGGACTGAGAATGTACTAAAGCTTTTGCCACATTC TTCACATTTGTAGGGTTTCTCTCCAGTATGAATTCTCTTATGTTCCATAA GGTTTGAGGACCAGTTGAAAGCTTTGCCACATTCTTCACATTTGTAGGGT TTCTCTCCAGTATGAATTACCTTATGTTTAGTAAGGATTGAGAACTTACT AAAGGCTTTGCCACATTCTTTACATTTGTAGGGCTTCTCTCCAGCATGAA TTGCCTTATGTGTAGTAAGGGTTGAGACCTTAATAAAGGTTTTGCCACAT TCTTTACATTTGTAGGGCTTCTCTCCAGCATGAATTGCCTTATGTGTAGT AAGGGTTGAGACCTTACTAAAGGTTTTGCCACATTCTTCACATTTGTAGG GTTTCTCACCAGTATGAATTCTCTTATGTTTAATAAGAATTGCAGATTGG TTAAAAGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTACAGTATG AATTTTCTTATGATAACTAAGGGTTGAGGACCACTTATAGGCTTTGCCAC ATTCTTCACATTTGTAGGGTTTCTCTCCAGTATGAATTACCTTATGTTTA GTAAGGATTGAGAAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03942.hp2 HG03942.hp2	a0027 a0027	a0027c0030 a0027c0030	a0027c0030t0001 a0027c0030t0001	a0027c0030t0001g0170 a0027c0030t0001g0170	1	404	0.0025	-1764	c.160 others(9): Show c.1608_3371del	p.Phe others(14): Show p.Phe537_Thr1124del	ZNF208	ENSG00000160321.16	transcript	ENST00000397126.9	protein_coding	4/4	3520/9088	1608/3843	536/1280			chr19	TogoVar
SLC13A4_chr7_135676231_135733186	135678137	TGGAAGTT others(1756): Show TGGAAGTTCCCAGGGTGGGACGTTGAAACCCTGGGTCCTGGGCCTTCCTG AATCACAGCCTCGGTGGGAGGATTTTATGAAAGGTACAGTGCAGTTGCAT CATCTTACACAGTTGTACAGGACTGGGACCAAAAAAGGTGCCATGTAAAT AGTGCATGCAATTGTGTTCAGTGTTCGTTCAGTGAGGACAGCCCCACTGA GCTACCTGTGTACTCAGGTGGTCTCGGTTCCCTTTGCGTTCTAATGGTTT GAGTTTCTTGCTGTATTGAGAGTGATTCTAGTGTTTAGAGACTTTTTCAA ACATCACGGTCTCCAGATGTGAAGCCAACTACCTCATTTATTGTATGGTT GAACAAACAGATTTGTTCTGATGTTGGAAGGAAAACTAGCTGCTTTTGAT TTGTTAAAAGATGGTACATGAGTGTTTGTGATATGTAAATACTAATGTGA AAGATTGTATACCATGTACTTAATGTCTGACTTAGTGGAATTTCAAAGGC AACTTTGACTAAGCAAATTTGATAAAGAATTGGTTTAAGAATAAGATGCA ACTATACTTAGTGACTTTGGCTCACAGTTTCATCATCCATAAAATATTAG AAGATAAAATTAAATTATATTTGCAAGAGACACAAGACTATTAAGGAGGG CTAGAAGTTATCCAACAGTGGAGTGATTTAGATGACAAGGAGTTATTAAT CATATTTGCCATTTCCTGTCACTGGAATGGGTAACCTTGCTTGGCTTGAA TCTCCAGTTCTGGGAAAGAACAGTGCTGTGCTTGAGAGCAGTTTAGTAGA CCAGACTGAAATAAACGCTCTTTCTAAATTGGCTAGTTGAATGCATTCAC TACTCGGAACACCTGGCAGCAGTTGCTGGCACAGCTTTCCCTTCAGGAGT GAGTCAGGTTCTCACATAGTTGAATACTGGCCAGTAATTCTAAGTCCACT TAATTCTAAATCAACTTTTCTTTCTCTTTTTACTTATACTCCCAGAATCT TACAGATTGCACCTTTGTCCTATTGTCTGACTTAGGGGCAAAGGATCTGT GTTCTGTGATGGTTCATAAATGTGATGTTTGGCTGCTCTGATAATAAGAG TAATACCCTGACTCTTGAAAATTTAAAGCAAATGACTTTAGAGATGTTGG CTGGATCAAATCAGCTGTAGCGTACCTAACATTGGTATTTCATTTGGGCT TGTGAGGTCTTAACTATTATATTGGACAAATAATTTTGGTCTAACTCACA GGGCAGAAGCACTGATGTTCCCATTAACCATGGTCAGTCACATTCTGTGG TTGAAGCACATGTTTGTGGTGGTTTCTTTTGCTCCAAAAGAAATTTTACA ACTCACAGATGCTTGATCAATTAAGGGAGTGATTTTATAGATAAATTATT GTGGGAAAACAGCACGTGCTATCAGTAGTAACTTAAAATCACTTAAAACA GTGCAGTAATTGTAGGGGACTCCCTTTCCCCTAAGATATATTTAGCAAAC AACTGATGGGAGAAATAAAAAATATGTAACACTAACAAACTAGAGGGATT GAGAGCTATCTCCAGTCATGTAGCAAGGATATCTATCATGGAGAAAACGG CATGGTCTTCAGGAGGAGAAAGAAGCCTTGATTTCCAGACAGTTGTTTTC TCATGGGACACGTTTATTGAGCATTTACAGCTTACCACATTGTAGAAGTT GCTGGGGGATTTCAAGAGCCATAGACAGCTCTTCTCCCTCAAGGGGCTCA TGTAGGGATGTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0233 a0001c0001t0006g0233	1	372	0.0027	-1763	c.16 others(11): Show c.1663_*3425del		SLC13A4	ENSG00000164707.16	transcript	ENST00000682651.1	protein_coding					3093		chr7	TogoVar
STK19_chr6_31967363_31986446	31984683	GCACAGAC others(1756): Show GCACAGACATGTTGGGGACCAGCCTCAACGCCACCCGTAGGGTTCCTGAA GTCCATTGGTGACACAGGAATGAGAAGAGACAGGTTAAGAGTTCATAAAG AGTGGGGGCCAGGGGGCCAATTGCAAAATGGAGGCTGCAAAAGGCTCAGA GCTCTGGTCTCCACACTATTTTTTGAGTACAGTCACTCAGATCTAAGAAG CAGATGTTCAGGGAGAAACAGTGAAAGGGAGGCAGTGGGTCATAGGCGTA ATCTATAGCAATAGAGTTTTAAATGAATCTCCTTTGTGCTCAAACAGCAT GTCTTTAAATTATCGGAGAGTAGCTGGTGGAAGTGGGCTTAGCTAGAAGA CTGCATGTCTGTCCAATGCTTCAAAGGAGGGTCTTTCTCCTTGAACAGAG TGTTTACAGATAAGACAGGGGGTCTCACTCTGAGCATGGGAACATGATGG CAATTAGGAGGCTTTTCTTCTCAGAGGCCTCTTGTGGCTTTCCACAACTT ATTGTCTCATATTTTTATGGACAGTTTATACAGGCACCCCACAAGTCCTT TTCCCAACATGCCCCCCTCCCTTTTTTTTTTTTTAACCGCTATTGCTATT ATGGCTTATTTGTGGTGTTTGGTCTGTTTTCAGAAGTGTCTTTTGCATCT GTAGACTAAAAGTAAACAGCATAAACAGATACACATTAAAGTAAAATTTG TAATAGTTGATCCTTTAATGGTCTTAATCTGTTTAAGAGGATTTATGTTT GAAAGTCCGTCAGTAGCTCCAATGAGAATGTCAGTCTCAGGCAGGAGGGT TAAATGAGCCTGAGATGCTTTAAAAACCTGTTTTTTTAAAATTTGGTTAT ATTTAATGTTAAATTTTTATTTTTTTCTTTTAGATGATGTCTAACTTTTT AAAAATGATGTTTAGTAGTATTATACGAATGGGGAGTTATGTAGAAATTG GAAGTATTTCAATTACATTGTACTTCTAATTGATGTTTTAAGTTTATTGT ACGATCTTCCATTTAAATAACAGTCTGTCTAAGATCATTTGTTTGATTTG TCAATTGTTGGTCTATTTGGGTCTGAGAATTCCACAATTTTGAGGAATTT TTTGTTAACTATTTATATATTTTGTAGTTTGAACAGAGGAGTGTAAAGCA ATTCCAGCAGCCGCAGCAGTAGCTGTGACTGCAATAAGGCCCATAAGACT GTTATAAGGGTAAAAATAAATCTCTTTGTTTTGGTAAACACTTTTTTTTA AAACATTTTTGTGACAATATGAATGGAAGGAGAGGCTTTCTAAGGTCTAT TGAGGGAAACCAGTATCCAAACTCCTTTCTTAGTTTTTATCAGTAACACA GATGTTTTTACACCGAACGTGGAATTAATACAGGTGAAAAGGTGACAGTT TTGACAAGTAATAGTTTGAGAATTAGGTCGAATGTCAATATTTTTGACCA TTAACATAAAAGGAGGGTTGACACAACTCTGAATGGGCACTGTTTTGTTG GAAGAAAACTGATACGCAAATTGAAGTTTTTAACCTTTTTTTTTTAAAGA TAATATATTTTTTTCTAAACTTAAATATGAGATTGGGCCATTATTAACTT TCATAATTTGGAGTGTTTAGGGCCTATTATTGGATTAATTATTTTGGGAT GTGGGCCAGCTGTACTAAAATTGGTCCAAATTATGGGAAAATGAGCACGT TTTTCAGTGTAAGTAGTGTTACCTTTTTGATAGTATAGTTTCTGTTTTAG TTTTGTCTTGTATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01069.hp2 others(10): Show HG00099.hp1 HG00280.hp2 HG01069.hp2 HG01070.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02148.hp1 HG02258.hp2 HG03017.hp1 HG06807.hp1 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0141 others(5): Show a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0141 a0001c0001t0001g0148 a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0111 a0002c0002t0001g0121	13	433	0.0300	-1763	c.36 others(11): Show c.3635_*5397del		STK19	ENSG00000204344.16	transcript	ENST00000685781.1	protein_coding					3238		chr6	TogoVar
STMP1_chr7_135657514_135681416	135678137	TGGAAGTT others(1756): Show TGGAAGTTCCCAGGGTGGGACGTTGAAACCCTGGGTCCTGGGCCTTCCTG AATCACAGCCTCGGTGGGAGGATTTTATGAAAGGTACAGTGCAGTTGCAT CATCTTACACAGTTGTACAGGACTGGGACCAAAAAAGGTGCCATGTAAAT AGTGCATGCAATTGTGTTCAGTGTTCGTTCAGTGAGGACAGCCCCACTGA GCTACCTGTGTACTCAGGTGGTCTCGGTTCCCTTTGCGTTCTAATGGTTT GAGTTTCTTGCTGTATTGAGAGTGATTCTAGTGTTTAGAGACTTTTTCAA ACATCACGGTCTCCAGATGTGAAGCCAACTACCTCATTTATTGTATGGTT GAACAAACAGATTTGTTCTGATGTTGGAAGGAAAACTAGCTGCTTTTGAT TTGTTAAAAGATGGTACATGAGTGTTTGTGATATGTAAATACTAATGTGA AAGATTGTATACCATGTACTTAATGTCTGACTTAGTGGAATTTCAAAGGC AACTTTGACTAAGCAAATTTGATAAAGAATTGGTTTAAGAATAAGATGCA ACTATACTTAGTGACTTTGGCTCACAGTTTCATCATCCATAAAATATTAG AAGATAAAATTAAATTATATTTGCAAGAGACACAAGACTATTAAGGAGGG CTAGAAGTTATCCAACAGTGGAGTGATTTAGATGACAAGGAGTTATTAAT CATATTTGCCATTTCCTGTCACTGGAATGGGTAACCTTGCTTGGCTTGAA TCTCCAGTTCTGGGAAAGAACAGTGCTGTGCTTGAGAGCAGTTTAGTAGA CCAGACTGAAATAAACGCTCTTTCTAAATTGGCTAGTTGAATGCATTCAC TACTCGGAACACCTGGCAGCAGTTGCTGGCACAGCTTTCCCTTCAGGAGT GAGTCAGGTTCTCACATAGTTGAATACTGGCCAGTAATTCTAAGTCCACT TAATTCTAAATCAACTTTTCTTTCTCTTTTTACTTATACTCCCAGAATCT TACAGATTGCACCTTTGTCCTATTGTCTGACTTAGGGGCAAAGGATCTGT GTTCTGTGATGGTTCATAAATGTGATGTTTGGCTGCTCTGATAATAAGAG TAATACCCTGACTCTTGAAAATTTAAAGCAAATGACTTTAGAGATGTTGG CTGGATCAAATCAGCTGTAGCGTACCTAACATTGGTATTTCATTTGGGCT TGTGAGGTCTTAACTATTATATTGGACAAATAATTTTGGTCTAACTCACA GGGCAGAAGCACTGATGTTCCCATTAACCATGGTCAGTCACATTCTGTGG TTGAAGCACATGTTTGTGGTGGTTTCTTTTGCTCCAAAAGAAATTTTACA ACTCACAGATGCTTGATCAATTAAGGGAGTGATTTTATAGATAAATTATT GTGGGAAAACAGCACGTGCTATCAGTAGTAACTTAAAATCACTTAAAACA GTGCAGTAATTGTAGGGGACTCCCTTTCCCCTAAGATATATTTAGCAAAC AACTGATGGGAGAAATAAAAAATATGTAACACTAACAAACTAGAGGGATT GAGAGCTATCTCCAGTCATGTAGCAAGGATATCTATCATGGAGAAAACGG CATGGTCTTCAGGAGGAGAAAGAAGCCTTGATTTCCAGACAGTTGTTTTC TCATGGGACACGTTTATTGAGCATTTACAGCTTACCACATTGTAGAAGTT GCTGGGGGATTTCAAGAGCCATAGACAGCTCTTCTCCCTCAAGGGGCTCA TGTAGGGATGTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0066 a0001c0001t0028g0066	1	392	0.0026	-1763	c.39 others(11): Show c.3973_*5735del		STMP1	ENSG00000243317.8	transcript	ENST00000507606.3	protein_coding					1722		chr7	TogoVar
PEAK1_chr15_77103158_77425104	77296279	TGCCCTGA others(1755): Show TGCCCTGAAATTATGTACATCTAATATGTATCAATAAAAATAAATAAATG GGACCAGGCGAGGTGGCTCACGCCGGTAATCCCAGCACGTTGGGAGGCCA AGGCAGGCAGATCACTTGAGGTGAGGAGTTCGAGAGCAGCCTGGCCAACA TGGTGAAACCCCCATCTCTACTAAAAATATAAAAAATTAGCCAGGTGTGG TGGCAGGCATCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATT GCTTGAACTCAGGAGGCGGAGGTTGAAGTGAGCCAAGATCACGCCACTGC ATTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAATAAATAAA TAAAAGAAAATAAATGACAAATTGAAAAAAAAGTAAAATGCAGGTATCTA AATCTGAAAATTGAAATAAAATAAAATAAAATGGTAGAGGACGAGTTTAT CCTAGGGCAGATTATTAACTATGATCTAGGATTGTTCTTAGGAGGTCTCA TGTTTAAAGAGGCCCATATTTTTCTTTTAACACTGAAAAATTAAGAAAAT ATTAAAAATGAAGAAAGGGATATAGGGAGAGAACGAGACAAAGGAGGGAC AAGCACACACACAGAACTTTGGCCCAAAGTACCAAGTACTACAGCTTAGA GAATGCCCCAGGAGATCAATCACTGTCACATTATGACATCAGAGATCAAA ATTCCCGTTTAGTCTAAAATGACCAAAATTGGACTTAATCAGAAGTAATC AGCTGTAAAATATGCAGATCTGAAAGGTTCAGACTATGCTCCACTGTCAT TCCCAGTTAGGATATCAAATTGAATTTGCAAGTTTAGATGATTTGTATTT GCTAAAATTAGGTCTCAGGATACACAGAGAATGTGAAATGCTCCCTGAAG CAGCTGACTTGATATATGCTCTGAGGAAGTACTACTGCCATTCACAGAAA AAAGCATATGTTTCATAGCAGCTACTTTAAAATCAATGTTTTCACTGCCT CTGATAGTAACAGAAGTAAAATATTTGTATTTCAAATTCACTCCAAGCTG AAAATTTAAAAAATGAATCTTCTTATAAACTTGTGTTGGCAAAGTATACG CTATTAACACCTGTGACTGCCTCTTCCCCAAAGCATATGTCACTTCAGCT GACATAACAGCTTGTCCTCCTTGGAGGAATTCAATCACCTCATCAATAGT ACTGGTCAAGCAGATGAAAATATTTCTCATGGGGCAGTTTATCTTAGTGC AATAAGATGTTTCTAAAACTCTTTAAAATCTGTAAGCATGTGAAATCTGG TGAAACCTCATTTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCA CGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGTGTG AATCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTTC AGCCTGGCAACAGAGTGAGATTTTGCCTCAAAAAAAAAAAAAAAAAAAGG CCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCTTGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA AGCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCTG CAGTCCGGCCTGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02965.hp2 others(2): Show HG02055.hp2 HG02559.hp1 HG02965.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 others(1): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 a0001c0001t0046	a0001c0001t0023g0313 a0001c0001t0023g0316 a0001c0001t0024g0317 others(2): Show a0001c0001t0023g0313 a0001c0001t0023g0316 a0001c0001t0024g0317 a0001c0001t0040g0315 a0001c0001t0046g0314	5	326	0.0153	-1762	c.-60 others(20): Show c.-602-11537_-602-9776del		PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9						chr15	TogoVar
ZNF516_chr18_76352682_76500242	76392936	CAGGTGGT others(1755): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp1 HG01261.hp1 others(13): Show HG00323.hp2 HG01109.hp1 HG01261.hp1 HG01261.hp2 HG02165.hp1 HG02486.hp2 NA18943.hp1 NA18960.hp1 NA18982.hp1 NA18983.hp2 NA18993.hp1 NA19077.hp2 NA19081.hp1 NA19085.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0021 a0007c0015	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(13): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0042 a0001c0001t0068 a0001c0001t0081 a0001c0001t0143 a0001c0001t0145 a0001c0002t0011 a0001c0004t0015 a0001c0004t0049 a0002c0021t0198 a0007c0015t0044	a0001c0001t0002g0216 a0001c0001t0006g0309 a0001c0001t0014g0161 others(13): Show a0001c0001t0002g0216 a0001c0001t0006g0309 a0001c0001t0014g0161 a0001c0001t0022g0200 a0001c0001t0031g0203 a0001c0001t0032g0290 a0001c0001t0042g0306 a0001c0001t0068g0210 a0001c0001t0081g0209 a0001c0001t0143g0146 a0001c0001t0145g0059 a0001c0002t0011g0045 a0001c0004t0015g0308 a0001c0004t0049g0198 a0002c0021t0198g0098 a0007c0015t0044g0147	16	346	0.0462	-1762	c.181 others(21): Show c.1811-14395_1811-12634del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76392982	CAGGTGGT others(1755): Show CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0284 a0001c0001t0042g0284	1	346	0.0029	-1762	c.181 others(21): Show c.1811-14441_1811-12680del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
DHRSX_chrX_2214506_2505976	2280403	AGAGGGAG others(1754): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGG GAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGA GGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGA GAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGA GAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAG GAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGA AAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGAGGGAGAGAGAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGG AGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAG GAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	50	0.0200	-1761	c.388 others(18): Show c.388+9338_388+11098del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
COL23A1_chr5_178232618_178595393	178394846	AGCATTCG others(1753): Show AGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCT GTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTC TCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAG TCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAAC GTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGC GGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGG TTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTC TGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGG CCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGC TCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAG AGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAA ACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCG GCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTT GGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGC TCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCC GGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCG GCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCG AGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCC AAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCC CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCTCTGGGCATT CGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTC CGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCT CCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTC CCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAG GCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAG GCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGG CCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCA TTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCC TCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAG CTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTC TCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCC AGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGC AGGCGCTCTGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0169 a0002c0003t0003g0169	1	236	0.0042	-1760	c.362 others(19): Show c.362-89687_362-87928del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL23A1_chr5_178232618_178595393	178394895	TGTCCTCC others(1753): 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 CAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGG CAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTC CGGCCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02622.hp2 others(2): Show HG02258.hp1 HG02451.hp2 HG02622.hp2 HG02647.hp1 NA18973.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0002c0003t0001 a0004c0006t0003	a0001c0001t0002g0049 a0001c0001t0003g0214 a0001c0004t0001g0007 others(2): Show a0001c0001t0002g0049 a0001c0001t0003g0214 a0001c0004t0001g0007 a0002c0003t0001g0152 a0004c0006t0003g0062	5	236	0.0212	-1760	c.362 others(19): Show c.362-89736_362-87977del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL23A1_chr5_178232618_178595393	178394983	CGTCCTCC others(1753): Show CGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGG CTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGA GAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCA AACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCC GGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCT TGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCG CTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCC CGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTC GGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCC GAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTC CAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCC CCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGG CTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGG CGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGC CCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCAT TCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCT CCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGC TCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCT CCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCA GGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCA GGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCG GCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGC ATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTC CTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCA GCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCT CTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTC CAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGG CAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTC CGGCCCCGGCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG01256.hp2 others(5): Show HG01106.hp2 HG01243.hp1 HG01256.hp2 HG01928.hp1 HG01978.hp2 HG02145.hp1 HG03471.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0002c0002t0001 a0002c0003t0003	a0001c0001t0002g0083 a0001c0001t0002g0189 a0001c0001t0003g0067 others(5): Show a0001c0001t0002g0083 a0001c0001t0002g0189 a0001c0001t0003g0067 a0001c0001t0014g0224 a0002c0002t0001g0001 a0002c0002t0001g0052 a0002c0003t0003g0126 a0002c0003t0003g0173	8	236	0.0339	-1760	c.362 others(19): Show c.362-89824_362-88065del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
TRIM9_chr14_50970266_51100105	50971537	CAGTCCAA others(1753): Show CAGTCCAACATGGCCCCACAGTGACCGCATGACAGCACAGCCCTGGCAAA GGGTGGCATCCTGCCTGATGGGGCCTGAGACAGCACTCCTGCACTGTCCA TGTACTTTGCTTCCTGCTGAGTGATCCTTGAGTGTTGTCACGGAATTTTT TTTGTATTAAGATATAATTTACATGCCATGTAATTCACCTTCTTGAAGTA TATATTTCAGTGGTTTTTAGTATATTCGCAAGATTATGCAACCACCACCA CTATCTAATTCTGTACTGGAAATTTGATAAAATGTTGATCCTTTTTCTTT TTTCCCAGGGGCCCAAACATCTATTTCTGGTTTTTTTTGGTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAGGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATG CCCGGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCACCACACATCTA TTTCTGTAGTTTTTCTTAGCACAGCCATGGTAGGGTGAAGAAGTAACAAA CTGAAAGGCCCAGACTGAGGTTTCTGTACATCTATTTAGGTGCTTTTGTT GTTCACTCATATTCAGTGCTCCAAATTCTGTGTTTATCCAAAAAATTGGT TCTTCAGATAAACACAACATTTAGGTCGCCTCAGTTGTATGTGATGTATT ATGTCAGATCCACGCTTCCCTAAACATCAGCCTTAGTGGAAATAGCTAGC ACATATTTTGAGAAATACATACAGGTGTCTTTAGTGTGTTCACATAAATC ATAAGGTAGTGTGACCAGAGAATTTGTTTGTTTATTATAGTTCCATTGAT TCATAATCAGAAATCTGGATTCAATAGCAAGCCCTCCTTTCTTCTCAGTG AGTTGAATAGATAGGCAAAAGATTAATGCCTACAGCAGAGGGAGGAATAA AGGGACCTCATTTCTAGAAAATAAAATGATTTCTTGCAAATCACTTATTC ACTCCTATAAGGAAATATGAGGAATTACAAGTTCCATTAACTTCAGTACC ACGAGAAGAGTAAAACATAAGCAATGCGTTCCATTAGGTAGTAAACAGAA GAGCAGAAAACCAGAACAGAGATGGGACCAACAGAGGAGGAAGAAAAAAG TAACATGGTAGTGGAAATGATGGCACCAGCGGCCCATCTGGAGCCACTGC TGCAAAGACTCTGGCTGCAGGGGGCAAGGTGAGCCTGGGGCTGTCTGCTC AACGGAGCCAGTAGGGGCCGGGAACAGGCGAGAGCCCTGCTCCCTACTGA GTTGGCAGGGCCAAAGCCCCAAAATCCCAGGCGCAGCTGCGGCAGCCCAG CCATAACTCTGGACTTGGGCATCCCTGCGCTCTTGGGGGCCTGGGAAGCT CCCCTCCCCCCGTAGGCTCAGAAGTACCTGCTCCCGCTCCTTGGCCTCTC CCTGCTCCTGGTGCCCCCTCCAGGGTGGAGCAAAGTTGTGGTCAAGCCTG GGCGCTGTCGGAAACCCCCCAGGTGTGTGTGTGCTTGGGACAGCACTGTC ACACCAGCCTTCTGCCACCTCAGCCCCCTCTGGACTTTGGGTGCTGATGA GCATGGGAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	342	0.0029	-1760	c.39 others(11): Show c.3994_*5753del		TRIM9	ENSG00000100505.14	transcript	ENST00000684578.1	protein_coding					3728		chr14	TogoVar
SDHA_chr5_213320_262082	259698	CAGCATTA others(1752): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGC TCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTC CCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGT GTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGG CAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGA GCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGA GCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTC CGCCTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT CCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCG TGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCG ACAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCC CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTG TGAGCTCCGCCTCCTGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAG CTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAG CATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCC GCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCT CCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCG TGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCG TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCGCAG AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCCGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	266	0.0038	-1759	c.32 others(11): Show c.3279_*5037del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					2617		chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79919815	ACGGGAAC others(1752): Show ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAGGAGAGACAGGAAC CGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGT CAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG GGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGA ACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGTGAGA GGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGT GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAG GAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAG AGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGA CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGG TCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCA GGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAG GAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAA CCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGG TCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAG GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGG GAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGA TGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGG TCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGA GGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAAC CGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGG TCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAG GAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0291 a0001c0001t0043g0291	1	352	0.0028	-1759	c.392 others(16): Show c.392-2174_392-416del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
EPB41_chr1_28909569_29125041	28977939	GTTTCATT others(1751): Show GTTTCATTTTATATTCTCTTTTTTTTTTTAAGAACATAGATGCAAACTCT CCTTAATCATTCATTTTTATGTTTTTTCTTGTATAGACTGAGTTGTAGCA TCTTTGCTGGATACTGCATTGTTTGAATTCCTGATTGTTTTCTAGCATTT AATGTATGGTATTAACTGAAGTTGGTTTCAGTAGAATTCTTTTGCCTTTC TACCTCTGTGCCTGTTCCTTAATTATGTTTTCATTTATTCTTATGTTCGG CTTGTTTTTTACATATGTCCCATTATGTGGCAAAATGTCTCAATTCTGTA CTCATAGATGTTATCCTCTAACTCTTCATATGTCTTAATTGGGTTTGGAT CATAATCCCAAAAGACACAATCCTAAACACCATAATCCGAAATGTTAAAA TCCTGAAAGATCAAAATCCCTGAATCCTAAATCCCTGAAGTCTAAAATCC CTAATGTCTACAATCCCCAAAATCACAATCACAGGGTAGTTGCTTCATGT TAGGCAGAACTATTACTTTGTTGTGTTTATTTGGAAATTAAATATGGTTT AAGGAGATGCATATAGATGCCAAGTGGACAAGGGGTAGACTTATAGACTT AATTTTGGAGATGTCAGTTTGACTGGATTAAGGAATACCTAGAAACCTGG TAAAATATTCTTTGGGGTATGTCTGTGAGGATGTTTCCAGAGGAGATTAG TGTGTAAGTCTTGTGGATTAGGTGGGGAAGATCTGCCCTCATTTTTGGTG GGTATCATTAAATTGGCTGGGGGGCCCGGAAAGAACAAATAGAGAAGACA CGTGTCTCTGACAGCTGGGACAGACTTCTTCTGCTGTGTTGGGCATCAGA ACTATAGGCTTCTCAGCCTTTGGACTCAAGGACTTATACCAGTAGCCCCT CCAGGTCTTGAGGATGAGAGTTATACCATCAACTTTTCTGGTTCTGAGGC CTTTAGTCTTGGACTGAGCTATGCCACTGGCATCCTAGAGTCTCCAGCTT GCACACAGCCTGTTGTGGGACTTCTCAGCCACCACAATCATGTGAGCCAA TTCCCCTAGTAAATCCTCTGTCATGTATCTATATACATATCCTATTGGTT CTGTCACTCTGGAGAACCCTGACTAATACAGATTTGATATTAGAGAAGCT GAATGTCATTCCTTTTACTTGCAACACAATGAAATATCTGTGAAATTGTT TCCTCACAGAAAGGCTGTGATAAGTTAAGTGTATGAGGCTACTTAGTGGT GAAAGATAAAAGTTTAAAAGCTAATTATTATTGCTGCTGTGAAAGCAGAG TATTGCTTAACTGCAATGGCCAAGCAATACCAAAACTTTCCAATGGACCA CATATACTTACAAAATTTGTAGACCACAACCACTCTCCAAATACAAGTGC GGTGAGTGTTTTGAAGACCATACAAGAATTGAAAATGCATGCGAAAAATA CAAGAGATCTCCCCTGCCAAATTATATTCAATTGTGTACGACTACTGCCC CTTCACACATGCCCCTTCATACTTGCCTTTAAAAAACACCCTTCATTACA GAATAAAAAGAATTTGACAAGCTCGGTGACCTTCTGAACCAAATACACTT GTCGATATTGAGGTTCCTCCACTGTTGCAAAACATGTTAAATGGTGAACT ATTCTTGATTAGGGATTTGACTGTCAAAGAGGATAGACTTCTTATATTTA CCACTAAATCTAATATAGCAAAACTAGCACATGCTTCACTTTGGCTAATG GATGGTACT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01109.hp1 others(9): Show HG01069.hp1 HG01071.hp1 HG01109.hp1 HG02055.hp1 HG02559.hp2 HG02622.hp1 HG02896.hp1 HG02965.hp2 HG03579.hp1 HG03669.hp1 NA18906.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0007 a0001c0002t0019 a0001c0002t0036 others(1): Show a0001c0002t0007 a0001c0002t0019 a0001c0002t0036 a0001c0012t0007	a0001c0002t0007g0199 a0001c0002t0007g0200 a0001c0002t0007g0201 others(9): Show a0001c0002t0007g0199 a0001c0002t0007g0200 a0001c0002t0007g0201 a0001c0002t0007g0202 a0001c0002t0007g0203 a0001c0002t0007g0205 a0001c0002t0007g0206 a0001c0002t0007g0213 a0001c0002t0019g0190 a0001c0002t0019g0197 a0001c0002t0036g0305 a0001c0012t0007g0198	12	312	0.0385	-1758	c.-7- others(15): Show c.-7-9488_-7-7731del		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
NR4A1_chr12_52046442_52064503	52062426	CGCTGCTG others(1751): Show CGCTGCTGCAGAGGGCAGCCTGAGAGAGACTTGTCAGAGGCAGGTGGCCA CTGTGTGGTCCCTGGACAGTCAGCAGTGACATCCTTTTGCAGCCATGAGG CAGTTGTGCCAGGCACGTCAGAGTTGTGCCCTGGTGAGGCAGTGCTGGGT GGCCTTGTGTGAGCTGGGCCTGGGATCCTAAGAGAGTTTTAGCTTGGACA TCTGGACGAGCCCCAGCCCCTCTCTCACAAGTCCCTGAGTGCAGCAGAGC CCCAGGGCCATTGGGCCTCCTCAGAGGATGAGGTTGAAGGGGTGAGCCCT GGGTGTCTATCTGGCACCCAGCCCTTCAGGGGCCTGGCCTTGCAGCCTCA TAGCTCAGGGAGCAGCTGCTCTGTCTTCCCCGGGGCAGCCAGTGCTCAGC TCTGGGCTGCAGTCTCTGCCCCAAACCTCTGCCTCCATCCCTGCTCCAGC TTCAGGCTCTCAGGCCTCTTCCTGGGCCCCAGGATGGGAGACTGTCTGGT TTGGCCTAGGCTGGCCAGTGGGACTTTGAAACCTCCAGCCTCTGATGGTG GGTACAGGAAGGAGTCAGTGCAAAGCAGAGGAAAAGCCCTTTTCACTCTC CAATATCTCCTTTCCCACACAAGCCAGAGACCTTCTGAAGGCAGGAGGCA CATTTCCAGGTCCCCAGCTGGACTTGGAGCCGGCGGGAAGCCTATGGGCC CCTGGAGGCCCTGGCCTTGGCTTCCACCTCCTGCCGGCCACTCCTGGGCC CCTGCTGTGTTCATCCTCCCCAGCACCCTGGCTCCCCGTCGTCTCCTCCT GGGCCCTGACCCTGCCAGACCAAGGGTGCCACTTGAGGTCTCCTCAAGGT CTGACCCAGGCGCTGGCACTGTCCAGCCCCAACTCAGGACCATAAATCAG GCCTGGCGTGGCCGCAGGGGCTGGGGGTGGCAGCTGGGACAGGGAGGGGA GTGCGGGGGGGCCTGTCCTGGTACATGCTGCGTTAGCAGGGAGCAGTGCC CAGCTGCAAGCCAGGCGGGCAGGGTGCTGACTGTTGCTGCACTCCTAGCC TGGAGAACATCAGAGGAAAGAGGCCTCCAATCAGGGAGCCCAGCCTTGGC ATAGCCAAGCAGGAAACCTGGACTCCACCCCAGGGCCCCAGGTAGCTGGG ATACCACAAGGACAGATAGAGATGGCCCCTGCCCCGCAAGAAAGCAGGGA CAGAAAAACAGCTCCCCAGTGGCAGATATAGAGACTGCCTTATCTGGGGC AGATAAACAGCCCCCTAACCGTTTGCAAGCACAGTCGCCCAGAATCCTCT TCCTTAAAGAACGACAGATGCTCAGAACGGCCTGCCAAAGGAATAGATCT TGCAGCAAGGAGAGACAGTCCCGCACCCCCGAGGGACGGAGGCACAGAAA TAAAGCCCGGCTTCTACCCCAACTTGGCCAAACACAGACCTTTCTGGAAA AAAAAGAAAAAAAGAAAAAAAGAGAAAAAAGCCACAAAACACTTCCCCAA CATGGACAGATCCCTGGGTCCTCAGGAGAACAGACAGCACACAAGCTGCT CCCGGCTTGGTCCTAGTCTCCGGGCTGCCTGGTGAGGTTGGCAGGTTGGG GCTGGGAGGTGCCCCTTTCTCACGCTCTCTGCCACTCTTTCATCCGCCCA GACATTTTCCCCGTCAGGGAGGGTGGGGGCTGGAAGTGACATCCCAGAAA GGGTGGGAGGTGGAAGAGCCCCTGCCCACGGTCCAGGGGGCAGATGTCAG AGAGGGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0032 a0001c0009t0010g0032	1	422	0.0024	-1758	c.34 others(11): Show c.3483_*5240del		NR4A1	ENSG00000123358.20	transcript	ENST00000394825.6	protein_coding					2924		chr12	TogoVar
ACAP1_chr17_7331529_7356477	7337591	TGCCTGTA others(1750): Show TGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAATGGATCACCTGAG GTCAGGAGTTCTAGACCAGCCTGGCTAACATGGCGAAACCCCATCTCTAC TAAAAATGCAAAAATCATCCAGGCTTAGTGGCACCCATCTGTAGCTCCAG CTACTCAAGAGGCTGAGGCAGAGGAATCACTTGAACCTGGGAGGCGGAGG TTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGGCTAGGCGACAGAGC GAGACTCTGTGTCAAAAAAAAAAAGACTTAATTTTGGACTTCCTTGTTCT GCTCTTGAGCTCCTGCATTGTGCCAGGCCCTGGGCATTCAGGGAGGACAA GATCATTTCTGCTCCCACGGAGCCCAAAGGCTGACTAGAAGACAAACCAG TGAAACGTTTCAATTCAAGACAGTAAGGTGTCCCCTGAGCACTCTATCAA ACAGCATGTTCACACAAATACACACTCAAATGCTCTCTCATTCCCCTTAC TTCGCTTTACTTTTCTCTGCAACATTTACCTCTGACACATTATGTATTTG CTTGCTATATATTAGTTCTCTATTGCTGTGTAACAAATTGTCACAAATTT AGTGGGCAACATTGTTTTATGGGCAACATGGTGAGACCTCATCTCTACAA ATAATAATTTTATTTTTATTTTTATTTATTTGAGATGGAGTCTCGCTCTG TCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTTACTGGAACCTCCA CCTCCCAGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGA TTACAGGTGTGCACCACCACACCTGGATAATTTTTTTTCTTTTTGTATTT TTAGTAAAGACAGGGTCTCACCATGTTGGCTAAGCTGGTCTTGAACTCCT GACCTCAAATGATCTACCTGCCGCAGCCTCCCAAAGTGCTGGCATTACAG GCTTAAGCCACCGCACCCGGCCTACAAATAATAATTTTAAACAATGGACT GGATGGAGTGGCCACAGCTGTGATCCCAGATGCTTCAATACTGGGCTCAA GTGATCCTCCCTCCTCAACCTCCCCAGTAGCTGTGCTACAGGCACATGCC ACCACGCCTGGCTTTTTTAAATTTAAATTTATTTTTTGTAGAGATGGGGT CTCCCTATGTTACCTAGGCTGGTCTGGAACTCCTGGCCTCAAGTAATCCT CCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCACAC CTGGCCTGAATTTTTTATTTTGAGTAAATTATTGACTCAGGAGACTAGTG AGGAGAGGTCTCATGTACCCATCACCCAGCTTCCCCCAGTGGTGACATCT TATACAATACTAGTACATTATTAAAACCAGGACATTAATAGTGTCACATT ACAATTAACAATAAACTCGGCCAGGTGTGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAAA CCATCCTGGCTAACACTGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTATTCGGGTGTGGCGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATGGCGCGAACCCGGGAGGTGGAGCTTGCAGTGAGTGGA GGTCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGTCTCAAT AAACAAAAACAAACAAACAAAAAACCCCAATAAACTCTAGCCAAGCTCAG TGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0188 a0001c0002t0002g0188	1	446	0.0022	-1757	c.111 others(16): Show c.111+245_111+2001del		ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
PDE11A_chr2_177618244_178077777	177990728	ACTCTGTC others(1750): Show ACTCTGTCTCAAAAAAAAAAAAAAGGAAAAAAAAGGCGGAGGGTAGCGTG GTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGTGGAGGTGGACAGAT CACAAGGTCAACAAAAATTAGCTGGGCACGGTGGTGCGCTCCTGCAGTCC CAGCTACTTGGGAGGCTAAGGCAGAAGAATTGCTTGAACCCAGGAGGTAG AGGTTGTGGTGAACTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAG AGTGAGACTCCATCTTAAATAAATAAATAAATAAAATAAAGAACAAGTAT TTAAAATATATCTTGGCTGGGCACAGTGGCTCACGCCTGTAATCCTAGCA CTTTGGGAGGCCAGCATGGGTAGATTACTTGAGGTCAGGAGTTCGAGATT AGCCTGGCCAACATGGTAAAACCACCATCTCTACTAAAAATACAAAAATT AGCTGGGTGTGGTGGTACTCACCTGTAATCCCACCTACTCAGGATTGGGA GGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAG CCAAGATTGTGCCACTGTACTCCAGCCTGGGCGACAGAGTAAGACTCTGT CTCAAAAAGTAAAATATAATATATTGGGCCGGGCATGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCATGAGGTCAGGA GTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCAGGCGTGGTGGCAGGCACTTGTAATCCCACCTACTC GGGAGGCTGAGGTAGGAGTATCACTTGAACCCAGGAGGCGGAGGTTGCAG TGTGCCGAGACCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACT CCATTTCAAAAAATGATAATAATAATAATAATATACCTTATATTTGGAAA TGAAAATATATATACTCTTTTCATATGCAAATTATAGAAAGTCACATCAA ACAACTTTTTCATGGCTGGTCAGGATAGAATTCTTCTAGATTTTTATGAT GGCATGAGTTTTTAAGTGCTGCAAAACATCTATATAAAGAGCATTATCTT CTTCCAATAAGTTTTTTGAGATTTCTTTTTAATTGGGTACATACTTAAGG GAAGAGATTTGGGCCATAATACAATCTCCTATTCTCAGCTCCAGTCCGAC AAGAGACCCTAATTAAATTTCTAACTGTTCTCTAAATAACACATTTACCC TTATAGTAAAACTCATTTATAATAATGCTTTGGGGGGAGTACCTGATAAC CTCTTAGAGGCTTCCTAATTATAAAAGACTAAATAATATATTACTGCTTT TTTTTCTAATTCTAAAATAATACATCTCACATAATCTTAATAAAGACAGT AGAGATAAAAATAGCACCAAAAAATCTACAGATCAATTTCATTATCCATA TTAAGTGCTAACTGAACCCAGCATTATATCAAAATAATACACTACCACCA AACAGGATTCATCTCAGAAATAAAAGTAATACAAGACCAAAGTTTAACAA AGTTTTCAAACAGTATATAAATTAATACAGTGGAAAATAAAAATTGCCCA GAAATCAGATGGTGGTTAAGTGTGGAAAAAGATTCCAGGGCATCCACTTG CTTTAACTGTCAAAACGCCTGCATCAAAAACACTTGAATCAAAATGTTCT ATGTATATAGATGGTAAACAGAAGTTACCAAAATATTTCTACCATTCATG CTATTTGC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp1 HG03139.hp2 others(3): Show HG02258.hp1 HG02965.hp1 HG03139.hp2 HG03209.hp2 HG03654.hp2 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0011 a0002c0002t0001 a0002c0002t0012 others(1): Show a0001c0003t0011 a0002c0002t0001 a0002c0002t0012 a0002c0002t0035	a0001c0003t0011g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 others(3): Show a0001c0003t0011g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0012g0102 a0002c0002t0035g0021	6	170	0.0353	-1757	c.107 others(21): Show c.1071+21817_1071+23573del		PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19						chr2	TogoVar
TXNRD1_chr12_104210779_104355307	104336912	ACAATGTA others(1750): Show ACAATGTAGATACCATGCTATTAACTATTATCTTATGCCTATGCAGTCTT CTGTCTTCCTTCACTTCAAAAGGTAAAACTTTGAAGTCGAAGGGTCTCAT GCTTACGTTCTTATGTTTGCCACCTATTTATGAATGCATACACATTATAC AGTGTTCGTGGTTTAATTGCAGGTGGCATCCTCATTATGTAGAGCTCTGC AACTTTTTAATAATCTCTTGTTTTTTGAGACCCTTTCCACATTATTACAT GGAAATCTATTTTAAGTGCTTTTTAGTAGTTCCTCCTATGGATACGCTTT ATTCATACCATAAACCCGGAATCGTCAGGGCGAATATGTGTAAGAGTACC ATATGCAATATATTACAGTCCTTTTGTCAACAGAACAACCTCCTGATTGT TTCCAGGGAGTGATGGAACCTTAGACAAGCTCTGCACCCCACAGCCTGAG TTGCCTCATCTGTTATGACGAGATTGCACTAGATAGTCTAGTCAGAGTCT GCGCTGAAAATCTATCAGCTCAACAGTAGAGTGCATCAGATTTCTCTGCT TTTGGCAGAGGTAGCCAGAGTTTGAGATTTCAAATTTATCCAAAATAATT TCTACACAGGTATTTTAGAGTGCCAGACATTTTTCTTTTGCTTTCAAAAA TGTTTTCAGACTTTGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGTGGGTGAACTGCTTAAGCTCACAAGTTCGGGACCA GCCTAGACAACATGGCAAAACCCCATGTCTATTAAAAACAAAACAAAACA AAAATGTTTTCAGACTTTAATGGTCTTGCACTATTTATCCTCAAAACCTT ATTTAAAATTACTTTTAAAATTTTATTTGTATTTTATTTTTTAGAGACAG GGTCTTACTTTATCACCCAGGATAGAGTGCAGTGGTGTGATCATAGCTCA CTGCAGCCTCGACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCC AAGTAGCTGGGACTACAGATGTGAGCCACTGTGCCCAGCTAATTTTTTTT TTTTTTTTTTTTTCCTGTAGGGACAGAGTCTCCCTATGTTGCCAGGCTGG TCTTGAATGCCTGGCCTCAGGTGATTCTCCTGCCTCAGCCTCCCAAAGTG CTGGGATTACAGGCTTGAGCTATGATGCCCAGTCAAAATTTTAATTTGAA TGACTACTCTTAAGGGTCCCAGCTATTACAGATAGCCTCTGTGGAGCTGA GATGATCAAATACAGGACGTGAGGACACCCTGCCCTTTGATAATATTTTC CAGAACATTTTGGTGATTAAAGACTTGTAGGCATCTTTGCCTTTTGTATT TTTTCTCATAAAATTGAGTAAACACTTGTAGCTGTCCCTTGTCTCTTTGT TCCTGTTTGAAGTGAACATCATACTCTATGTTTTGGTTCATGTTGGGGAG TCTTTAGCCTAAGTAGCTGTTAGCAGCAGTCATTAAAGTCTCTGGCCATT TTTCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCG AGGTGCGTGGATCACCTGAGATCAGGCATTCGAGACCAGCCTGGCCAACA TGGCGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGG TAGCGCCTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATC GCTTGAATCCAGGAGGCGGAGGTTGCGGTGAGTGGAGATCGCGCCATTGC ACTCCAGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	302	0.0033	-1757	c.174 others(18): Show c.1747-2225_1747-469del		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF670_chr1_247029637_247083811	247067863	AAAAGCTC others(1750): Show AAAAGCTCCAGCACAGCAAAGGATACAATCAACAAAGTGAAGAGACAACC CACTTAAATGGGAGAAAATATTTGCAAACTATGCATCTGAACAGGGATTA ATAACCACAATATATAAGAAGCTCAAACAACTCTATAGGAAAAAAATCTA ATAATCTGATCAAAAGATGGGCAAGGCTGGGCGCAGCGGCTCACGCCTGT AATCCCAGCACTTTGAGAGGCCGAGGCAGTAGATCACTTGAGCTCAGGAG TTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATA CAAAAATTGGCCAGGTGTGGTGGTGTACATCTGTAATCCCAGACTCAGGT GGCTGAGGTAGGAGAATCGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAG CCAAGATCACACCACTGTACTCCAGCAGCCTAGGTGACAGAGTAAGATTC TGTCTCCAAAAAAAAAAAAAAAAAAGATGGGCAAAAGATATGAATAGACA GTTCTCAAAAGAAGACACACAAATGGAAAACAGGCATATGAAAAGATGCT TAACATCACTGATCATCAGAGAAATGCAAATCAAAACTACAATAGGATAT CATCTCACCCCAGTTAAAATGGCTTAAATCCAAAAGACAGGCAATAGCAA ATTCTGGCAAGAATATGGAGAAAAAGGAACCCTTGTACACTGTTGGTGGG AATGTAAATTAGTGCAACCACTATGGAGAAAACTTTGGAGATTCCTCAAA GGACTAAAAATTGAGCCGCCATATGATCCTGCAATCTCACTGCTGGGTAT ATACCCAAAAGAAAGGAAACCAGTATATCAAAGAGATATCTGCACTCCCA TGTTTGTTGCAGTGCTGCTTACAATAACTAAGATGTGGAAGCAACCTAAG TGTCCATCAACAAATGAATGCATAAAGAAAATGTGCTAATATACACACAC TGGGGTACTATTTTGCCAAAAAAAAAAAAAAAAAAAAGAATGAGATCCAG TCGTTTGCAGCAACAACACGGATGGAACTGGAGATCATGATGTTAAGCAA AATAAGCCAGGCACAGAAAAACAAATATCGCATGTTCTCACTTATCTGTG GGATATAAAAATCAAAACAACTGAACTCATGGGCATAGAGAGTCGAAGGA TGGTTACCAGAGGTGGGGAAAAGTAGTGGCGAGCTGGAGGAGAGGTGGAG ACAGTTAATGGCTGACAAAAAAAAAATACTTAGAAAGAATAAAAAAGACA TACTATTTGATAGCACAAGGTGTCTACAGTCAATGATAACTTAATTGTAC ATTTTAACGTAACTTAAAGAGTGTAATTTGATTGTAACTCAAAGGATAAA TGCCTGATACCCCATTCTCCATGAGGTGCTTATTTCACATTGCATACCTG TATCAAAACATCTCATGTAATCCATAGATATATACACCTTGTATGTCCCC AAGAAAGTTAAAGAAGACAAAAAAAGGTAACAAATGCTGGCAAGGATATG GAAAAAAAGAGAATCCTTGTACACAGCTGGTGGGAATGTCAACTAGTACA ACTACTATGGAGAACAGTTTGAAGGTCTTTCAAAAAAAAACTAAAAAGAA ACCTGCCATATGATCCAGCAATCCTCCTGCTAGGTATATAGCCAAAAGAA AGGAAACCAGTATGTCAAAGAGATATCCACACTCTCGTTTGTTGTAGCAC TGTTTACGATAGCCAAAATTTGGAAACAACCTAAGTGTCCATCAACAGAT GAATGCAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0026 a0001c0001t0040g0026	1	326	0.0031	-1757	c.3+8 others(14): Show c.3+8974_3+10730del		ZNF670	ENSG00000277462.2	transcript	ENST00000366503.3	protein_coding	1/3						chr1	TogoVar
DMD_chrX_31114222_33216549	32969205	CTTTATAA others(1749): Show CTTTATAAACCACCCAGAAATATAATATCTATATGTATATAGCCACCACC CATATATGTACACACACACAGTTTATCAATTTTTGAAGTGAAATAACATA TAAATTAACAAAAATTCTCTCACGTGCTACCACATACATAGATAAAATAT GTATGTATTTTATACATACATATATGCATGTATACATACATATACATAAA ACATGTATGTACCACATACATAGATAAAATATGCTACCACATACATAGAT AAAATACTTGCCCAGATACATAGATAAAAATTCAAGTACCATCAAAGTCT ACCTTCTTCCTATCTATAAAGCTATAAAATGAGTGGTATGAGACTAAACA GAAATGTTCTGTGCTTTTTGGCACAAACGCATATTTGTTTATTTATTATG TATGTATTTATAGTGTTTTCATACAAATAGAACAATTTGACATATATATA ATAAACTAGAACACATATGCACATATGTATGTACATGTATGTATGCATAC ATATGCACATATATATGTTCTACTTTTGTGCAATTAATACTACATAACGA TCACATTTCAACATCTGTTTATATAAATTCATCTCTTGTTTAAAACTGTA GTATAAAGGGCACAGGCATGGACTACCACCAAGCTATGTCCATTTAGATT ACCTATTTTACTATTACCTAGCTACAAAGAAAACCCATGTCCATCTAAAC CCTTACTCATGTGAAAACATAAATGAAGGGCAAACTCCTTGAAGTAGAAT TGCTATGTAAATATGTAATTATACTTTTAATTTTGAAAGATAATGCCAAA TTAATCTCAAGAGTCTGGGCTTGTGTTACTCCATAGTCAATGATGGCGAT GGTCCTCAACTCTTGCCTCCAAAATGCATTCATTCTTGAATAACTTTGAT CAGATGAGACACTTATGATCTCAATGCTCATTCTCCTACTACTCTTTGGA TAACCTTGTTTGACATTTTTTTTTACAGTGTGTAAAGCAAAGAGAAACTC CAAACTCTTTACAAATATGCTTTGCTAAAGAATAAGACCTATTTGATAGC ACAACAGGGTAAGTATAGTCAATAATAACTTAATTGTAAATTTAAAAATA ACTAAAAGAGTGTAATTGGATTGCTTGTAACATGAAGGATAAATGCTTGA GGGGTGTATATCCCATTCTCCATGATGTGATTATTTCACATTGCATGTCT GTATCAAAACATCTCATGTACCCCATAAATATATATATCTATTGTGTACC CACAAAAATAAGATACTAAAAATACAAAAATTAGCTGGACATGGTGGCGC ACACCTGTAATCCTAGCTCCCCAGGAGGCTGAGGCAGGAGAATCGCTTGA ACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCA GCCTGGGTGACAGAGCGAGACTCCATCTCAAATAATACTGATAATGATAA TGATAATGATAATAAAAATAATAACGAAATTCAGTGGATTCTGAATAAGG CACAATAAGAAGAATTTTCTTTTTCTTTATTTAGTCTTAACACTGAAAAG TCTTAATGAATGTGTATCTACCATGTGAAATTAGACAGAATTTAACAGTT TAAAATATTAATGGAAATATTTTTCATTTAATCTATTTGTTCTAAACAAT TGCTAAAATATTTTGGTTACATCTAACCTCACAAAGGCAACCATTTTCTA TTACTTTTCTATATTCACTTTTTTCCTATTATTTACTGGGTTTCTTCTGT TATTGTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp1 HG01255.hp1 others(33): Show HG00609.hp1 HG01069.hp1 HG01255.hp1 HG01258.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18943.hp1 NA18952.hp1 NA18977.hp1 NA18994.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19060.hp1 NA19085.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0015 a0020 a0021 a0022 a0023 a0028	a0001c0001 a0001c0002 a0001c0054 others(22): Show a0001c0001 a0001c0002 a0001c0054 a0002c0005 a0002c0009 a0002c0012 a0002c0016 a0002c0052 a0003c0003 a0003c0014 a0005c0045 a0005c0057 a0006c0006 a0007c0019 a0008c0010 a0009c0013 a0010c0031 a0012c0040 a0014c0017 a0015c0056 a0020c0034 a0021c0035 a0022c0025 a0023c0041 a0028c0046	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(26): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0002t0013 a0001c0054t0001 a0002c0005t0007 a0002c0009t0010 a0002c0012t0002 a0002c0016t0001 a0002c0052t0025 a0003c0003t0001 a0003c0014t0001 a0003c0014t0010 a0005c0045t0018 a0005c0057t0001 a0006c0006t0001 a0006c0006t0008 a0007c0019t0001 a0008c0010t0009 a0009c0013t0022 a0010c0031t0001 a0012c0040t0001 a0014c0017t0001 a0015c0056t0021 a0020c0034t0001 a0021c0035t0001 a0022c0025t0006 a0023c0041t0001 a0028c0046t0029	a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0013g0012 others(33): Show a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0013g0012 a0001c0002t0001g0025 a0001c0002t0001g0051 a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0013g0097 a0001c0054t0001g0100 a0002c0005t0007g0092 a0002c0009t0010g0023 a0002c0012t0002g0098 a0002c0012t0002g0122 a0002c0016t0001g0060 a0002c0052t0025g0095 a0003c0003t0001g0067 a0003c0014t0001g0059 a0003c0014t0010g0015 a0005c0045t0018g0118 a0005c0057t0001g0109 a0006c0006t0001g0001 a0006c0006t0001g0047 a0006c0006t0008g0031 a0007c0019t0001g0052 a0008c0010t0009g0004 a0009c0013t0022g0066 a0010c0031t0001g0096 a0012c0040t0001g0048 a0014c0017t0001g0114 a0015c0056t0021g0045 a0020c0034t0001g0013 a0021c0035t0001g0106 a0022c0025t0006g0108 a0023c0041t0001g0046 a0028c0046t0029g0126	36	126	0.2857	-1756	c.93+ others(17): Show c.93+49178_93+50933del		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
ZNF670_chr1_247029637_247083811	247067864	AAAGCTCC others(1749): Show AAAGCTCCAGCACAGCAAAGGATACAATCAACAAAGTGAAGAGACAACCC ACTTAAATGGGAGAAAATATTTGCAAACTATGCATCTGAACAGGGATTAA TAACCACAATATATAAGAAGCTCAAACAACTCTATAGGAAAAAAATCTAA TAATCTGATCAAAAGATGGGCAAGGCTGGGCGCAGCGGCTCACGCCTGTA ATCCCAGCACTTTGAGAGGCCGAGGCAGTAGATCACTTGAGCTCAGGAGT TTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATAC AAAAATTGGCCAGGTGTGGTGGTGTACATCTGTAATCCCAGACTCAGGTG GCTGAGGTAGGAGAATCGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGC CAAGATCACACCACTGTACTCCAGCAGCCTAGGTGACAGAGTAAGATTCT GTCTCCAAAAAAAAAAAAAAAAAAGATGGGCAAAAGATATGAATAGACAG TTCTCAAAAGAAGACACACAAATGGAAAACAGGCATATGAAAAGATGCTT AACATCACTGATCATCAGAGAAATGCAAATCAAAACTACAATAGGATATC ATCTCACCCCAGTTAAAATGGCTTAAATCCAAAAGACAGGCAATAGCAAA TTCTGGCAAGAATATGGAGAAAAAGGAACCCTTGTACACTGTTGGTGGGA ATGTAAATTAGTGCAACCACTATGGAGAAAACTTTGGAGATTCCTCAAAG GACTAAAAATTGAGCCGCCATATGATCCTGCAATCTCACTGCTGGGTATA TACCCAAAAGAAAGGAAACCAGTATATCAAAGAGATATCTGCACTCCCAT GTTTGTTGCAGTGCTGCTTACAATAACTAAGATGTGGAAGCAACCTAAGT GTCCATCAACAAATGAATGCATAAAGAAAATGTGCTAATATACACACACT GGGGTACTATTTTGCCAAAAAAAAAAAAAAAAAAAAGAATGAGATCCAGT CGTTTGCAGCAACAACACGGATGGAACTGGAGATCATGATGTTAAGCAAA ATAAGCCAGGCACAGAAAAACAAATATCGCATGTTCTCACTTATCTGTGG GATATAAAAATCAAAACAACTGAACTCATGGGCATAGAGAGTCGAAGGAT GGTTACCAGAGGTGGGGAAAAGTAGTGGCGAGCTGGAGGAGAGGTGGAGA CAGTTAATGGCTGACAAAAAAAAAATACTTAGAAAGAATAAAAAAGACAT ACTATTTGATAGCACAAGGTGTCTACAGTCAATGATAACTTAATTGTACA TTTTAACGTAACTTAAAGAGTGTAATTTGATTGTAACTCAAAGGATAAAT GCCTGATACCCCATTCTCCATGAGGTGCTTATTTCACATTGCATACCTGT ATCAAAACATCTCATGTAATCCATAGATATATACACCTTGTATGTCCCCA AGAAAGTTAAAGAAGACAAAAAAAGGTAACAAATGCTGGCAAGGATATGG AAAAAAAGAGAATCCTTGTACACAGCTGGTGGGAATGTCAACTAGTACAA CTACTATGGAGAACAGTTTGAAGGTCTTTCAAAAAAAAACTAAAAAGAAA CCTGCCATATGATCCAGCAATCCTCCTGCTAGGTATATAGCCAAAAGAAA GGAAACCAGTATGTCAAAGAGATATCCACACTCTCGTTTGTTGTAGCACT GTTTACGATAGCCAAAATTTGGAAACAACCTAAGTGTCCATCAACAGATG AATGCAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02818.hp1 HG02970.hp1 others(6): Show HG01243.hp2 HG02818.hp1 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0039 a0001c0001t0009 a0001c0001t0012 a0001c0001t0039	a0001c0001t0009g0024 a0001c0001t0009g0027 a0001c0001t0009g0029 others(6): Show a0001c0001t0009g0024 a0001c0001t0009g0027 a0001c0001t0009g0029 a0001c0001t0009g0032 a0001c0001t0009g0033 a0001c0001t0012g0025 a0001c0001t0012g0028 a0001c0001t0012g0030 a0001c0001t0039g0023	9	326	0.0276	-1756	c.3+8 others(14): Show c.3+8974_3+10729del		ZNF670	ENSG00000277462.2	transcript	ENST00000366503.3	protein_coding	1/3						chr1	TogoVar
ERC1_chr12_986223_1500931	1085899	GTTGTTGT others(1748): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATG CCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACA GGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAA AGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATT ATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGG CCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAA TATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGC TGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGT TGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCAT TATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGC CTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTG TTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02886.hp2 others(2): Show HG01952.hp2 HG02055.hp2 HG02886.hp2 HG02896.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0057 a0002c0002t0002 a0001c0001t0057 a0002c0002t0002	a0001c0001t0057g0156 a0002c0002t0002g0087 a0002c0002t0002g0089 others(2): Show a0001c0001t0057g0156 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091	5	162	0.0309	-1755	c.108 others(19): Show c.1086+2329_1086+4083del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
LHFPL3_chr7_104323603_104913561	104834345	AGGAATAA others(1748): Show AGGAATAACTGAGTCCTCAAGAGGACTTTCTTGGCTTTCAGCCTCATGCT CCTCCTGAATCCTCACCTCACTCCCTTCTGTGTCTCTTAGCTGCCCTCAT ACATCACCAGTGCTTTTGCCTTCTGACCTTAAATATTCTGAAGCATCATT TGCTTATTGAAATCACCCATTTATGTCAGTGGGGTCTAGCTAAGCAGAAG AGACCAAGATGGCAAGTTCAGCTGCTGAAGTGTCGCAGTTGCCCTTGTCA AGTGGAGACAAACACATACAAAGGAGGGATGGGAGGTTGATGGAAGGAAG ACATACGCCCAAAGCCAGCTCATCAACTTCCAATTTTCTATTGACTTGTC AATTAAACACATGTGTGCACAATCCATTCAGCATGGCCCATGCAGGTCCT GCAGGCGGAGAGGGCTGCTTCAGCTTCATGATGGTTTCGGTGGAACATGC CCAAGGGATTCCTTTAATAGTACTCTATAGCACTGAGAAGTTTGTTCATC TCAATTGTTCTCTAATCACTTAGGTCCATTGTAACCTTGGAGAGGTAGAG AGAGGTGCCTTTTATTTTGGTGCAGGTGGGAGATCATTATCAGCCTGATT TATATTCATTAAACAATTGTAAATTCACATTTTCTTTTTGTCATTCTTTC TTCCTTGCATTCTCTTCATCAGTATAGGTTCTGTTGTGAATTTTCCATAG CAGTTTAACCTCCAGTGTGGTCTCTGGAGTCAGATGTCCTGAGTTCAAGT CCTGACACTTCTATTTACCAGCTGCGTAGCCTTGGGTGATACATTTTGTC ATTTGGACCTCAGTTTACTGATCCTCACTAATGAGAATGAGAATACTGAC TACCTGATTGGTTTGCTGAGACTAAATGAGTTAATTCTCATAAAGTGCTT AGTATGATGCACAGAGTAAGTGCCCCTTAAATATCGTTCCATCAACCAAC ATTTGCTGTGTGTTCTTCTAGTCAAAGTGATTTTTAGGTTTGTTCTTCAT GGAGCCCTACACTTTGCATCTAGGCAGGTAATGTCCAGAGCCTAGGAGAT TCTCTGTAGGCACAACAGCACCAGCAAGAAGGTAAGCTTAGATGAGCTAT GATCCTGGAGTGGCAGTCACTCCTTCATCTATTCATTTCACTCAGTAAAT ATTATTGAGCACCTACTATGTGCTAGGCACAGTTCTAGGAGATGGCAAAC TAAGTAGACAAAATTCCTGTTCTCCAGAACTTTGTTTTCTTTTTTTTTTT TTGAGATGAAGACATTTGTAATTTATTCTCTATGAATACAAATATATATA AACACACATAGAATCTGTTTTTACAAAAATTGTATCAAATTCTTCATATT GAAAATGGCTCACTTCACATGATGTATTTGACCATTGTTTCATATTGATC TACACGTTAAATTATTATTATTTTTTTTTACTTTAAGTTCTGTGATACAT GTGCAGAACGTGCAGGTTTGTTACATAGGTATACATGTGCTATGGTGGTT TGCTGCACTTATGAACCTGTCACCAAGGTTTTAAGCCCCGCATGCATTAG GTATTTGTCCTAATGCTCTCCCTCCCCTTTCCCCAAATGGGAGGAGACAG AAAATAAATAAACGTAAAAGGCAAGAAAATATTAGAAAGTATAAAGTGCT ATGCAGAGAATTTATCCTGGGTAGTGTGCTAAGTAGTGACCAAGTAGCTA CCCTTGGTTGTATGTTCAGGGAAGGCCTCCGAGGATCTGATATTTAAGCT GGCATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 HG02451.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0076 a0001c0001t0009g0002 a0001c0001t0009g0076	2	86	0.0233	-1755	c.683 others(19): Show c.683-71841_683-70087del		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2						chr7	TogoVar
ZNF670_chr1_247029637_247083811	247067865	AAGCTCCA others(1748): Show AAGCTCCAGCACAGCAAAGGATACAATCAACAAAGTGAAGAGACAACCCA CTTAAATGGGAGAAAATATTTGCAAACTATGCATCTGAACAGGGATTAAT AACCACAATATATAAGAAGCTCAAACAACTCTATAGGAAAAAAATCTAAT AATCTGATCAAAAGATGGGCAAGGCTGGGCGCAGCGGCTCACGCCTGTAA TCCCAGCACTTTGAGAGGCCGAGGCAGTAGATCACTTGAGCTCAGGAGTT TGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACA AAAATTGGCCAGGTGTGGTGGTGTACATCTGTAATCCCAGACTCAGGTGG CTGAGGTAGGAGAATCGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCC AAGATCACACCACTGTACTCCAGCAGCCTAGGTGACAGAGTAAGATTCTG TCTCCAAAAAAAAAAAAAAAAAAGATGGGCAAAAGATATGAATAGACAGT TCTCAAAAGAAGACACACAAATGGAAAACAGGCATATGAAAAGATGCTTA ACATCACTGATCATCAGAGAAATGCAAATCAAAACTACAATAGGATATCA TCTCACCCCAGTTAAAATGGCTTAAATCCAAAAGACAGGCAATAGCAAAT TCTGGCAAGAATATGGAGAAAAAGGAACCCTTGTACACTGTTGGTGGGAA TGTAAATTAGTGCAACCACTATGGAGAAAACTTTGGAGATTCCTCAAAGG ACTAAAAATTGAGCCGCCATATGATCCTGCAATCTCACTGCTGGGTATAT ACCCAAAAGAAAGGAAACCAGTATATCAAAGAGATATCTGCACTCCCATG TTTGTTGCAGTGCTGCTTACAATAACTAAGATGTGGAAGCAACCTAAGTG TCCATCAACAAATGAATGCATAAAGAAAATGTGCTAATATACACACACTG GGGTACTATTTTGCCAAAAAAAAAAAAAAAAAAAAGAATGAGATCCAGTC GTTTGCAGCAACAACACGGATGGAACTGGAGATCATGATGTTAAGCAAAA TAAGCCAGGCACAGAAAAACAAATATCGCATGTTCTCACTTATCTGTGGG ATATAAAAATCAAAACAACTGAACTCATGGGCATAGAGAGTCGAAGGATG GTTACCAGAGGTGGGGAAAAGTAGTGGCGAGCTGGAGGAGAGGTGGAGAC AGTTAATGGCTGACAAAAAAAAAATACTTAGAAAGAATAAAAAAGACATA CTATTTGATAGCACAAGGTGTCTACAGTCAATGATAACTTAATTGTACAT TTTAACGTAACTTAAAGAGTGTAATTTGATTGTAACTCAAAGGATAAATG CCTGATACCCCATTCTCCATGAGGTGCTTATTTCACATTGCATACCTGTA TCAAAACATCTCATGTAATCCATAGATATATACACCTTGTATGTCCCCAA GAAAGTTAAAGAAGACAAAAAAAGGTAACAAATGCTGGCAAGGATATGGA AAAAAAGAGAATCCTTGTACACAGCTGGTGGGAATGTCAACTAGTACAAC TACTATGGAGAACAGTTTGAAGGTCTTTCAAAAAAAAACTAAAAAGAAAC CTGCCATATGATCCAGCAATCCTCCTGCTAGGTATATAGCCAAAAGAAAG GAAACCAGTATGTCAAAGAGATATCCACACTCTCGTTTGTTGTAGCACTG TTTACGATAGCCAAAATTTGGAAACAACCTAAGTGTCCATCAACAGATGA ATGCAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	326	0.0031	-1755	c.3+8 others(14): Show c.3+8974_3+10728del		ZNF670	ENSG00000277462.2	transcript	ENST00000366503.3	protein_coding	1/3						chr1	TogoVar
DUSP11_chr2_73757213_73785103	73783350	GATTCAAG others(1746): Show GATTCAAGGAGAAGAAACTAAAAGAGAAGAGCCTTGGACCACATCCTTTC CTACAATGGGCAGTCAACGAACTTTGCCGTTCAACCAAGTTACAAAAGAA GGCTCTTTAATCCCTTCTTTGGCCCTTAAAAGCGGCAGCAGGGCCGGGCG CCGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCAGGGGAAGACCG ATCACGAGGTCAGGTGATCGAGATCATCCTGGCTAACAGGGTGAAACCCC GTCTCTACCAAAAATACAAAAAATTAGCCAGGCGAAGTGGCAGGACTCAG GAGGCTGAGTCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTG AGCCGAGGTCACGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCC ATCTCACAAAAAATACAATAAAATTAAAAAGCAGCAGTAAATTCATTAAT CAGATTCACTGAAATAGTTTTAGAACAACTGTAATTGCTCAACTTAAACA TCCCTTTCCTTTCTCCCCAAGGATATTGTGTATGTACTATATAATTATAA ATGCATACTATTACATATTATGAAATGTAACATATAAAATATAAATGTTA GTTAATTATATTAGTGAACATTTATGAGAAACATTGAGATGATCTCCCTA ACATGAGAGCCTGGGGGAAAGTGGGACTATCATGTCTGTCTTGCAGATTT CACCTCCCCAGAGCTCAGCCACTTAGTGCTGTTACACCTTTCCTACCACC TCTGCCAGCCAATCCTGTCTTGTGGGGAATCTGACCTCCCTATTGGCTAT CGCAGACCTTTAAACTGCCTGCTTTGTGACATCATTCTCCCACCAAACCG ACCACCACCTGGTAGCATCTTGGGGTTTCCTGGGCGTGGCCTGTAAATTT GTATCATCACAAGGGGCCAGTGACCAGTAACCAGTGACCAGTGGCCTTCA TACTGGACACATGCACTGGTTGGCTTCAGCCACCCAGACATCCGCTAGTA TCGTCTCTTCTTCCCTTCTATCTGCAGTTGATGTTTCTTCTTCTCTGACC ATGTCAGGTAAAGAGAGAAACTTTTTAAAAAGGTTTTCATGAGATTTCTT TGCCACTAAATTTAGATTTCTTTCCCCCTATATTCCCAAACAGCTTGGAA TAACAGGGAAAGTATTGAAGTAGAAATCCAGAGACCTCATTTCAGTTTTG GCTTTGACATTTACTAGCTGTGTGACTTTAGATAACTTTTATTCTCTCAC AAAATCTGTTTCCTCATCTATTACACTAGGATAATAGACTGGTTATTCCC CCTGGCCCTTTTCTTTTCTAATACTGAGTCTTAAAGGGTATACGTATAGA AAATGAAATCAGAGACTTTCTGAGAGTGTTCATTTCAACAGAAACAGAGA AAAAACCAAAGTGGTCTAGAAAACTAGCAATATATTCTGAGATGTTTCAT GTGTAATAGCCTCCCTCCACTAATATTTCAACTTTCGTATTTTAAATTTA GTGATGTTTAGTGATGTTTTAAATAATATTCAGCCAGGCACGGTGGCTCA CACCTGTAATCTCAGCACTTTGGGAGGCCATCTCCCTCACTAATATTTCA ACTTTCCTATTTTAAATTTAGTGATGTTTACTGATGTGTAGTGATGTTTT TAATATTCAGTTGGGCGTGGTAGCTCATGCCTGCAATGTCAATGCTTTGG GAGCCTGAGGTGGGAGGATCGCTTTGGGCCTAGGAGTTCCCGGCCAGTCT GGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG02258.hp2 HG02280.hp1 others(1): Show HG01169.hp1 HG02258.hp2 HG02280.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0113 a0001c0001t0001g0018 a0001c0001t0001g0113	4	386	0.0104	-1753	c.-51 others(11): Show c.-5129_-3377del		DUSP11	ENSG00000144048.11	transcript	ENST00000272444.8	protein_coding					3248		chr2	TogoVar
MB21D2_chr3_192791815_192922856	192827118	GATCTCCT others(1746): Show GATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACTGCGCCCGGCACCCTGTCTTTCTTAAAGGGCAA AAAGTATAAAAGAAAGCTTCCTCTCAAATTAAGAAGCAAAATTTCACACT TTCCAAGCTCCCCAACCTATTAACTTATAAATAGAACTTGATTCAGATCC ACAGTCGTTTATTGAAATTGACTCATGACCACTGGTCTGCCCAGCTGGTA TAATCACTGGCAGATTGTGTTCCCTGGGCTGGCTCACCTCCACGACGGGA ACAATGATTGTGAGGGTTTAAGATGATGTGTGTGGAACACATAGCCCAGT GCTGACACTTAGAGAAGTCTATTGAAGCTGGAGAGGTACTCTACGTCCCA GCTTCTTATTTAAACCTCACAGAAGCCCTGTGATGTAGGAATTATGGTCA CTATTTCCCAGACAGAGAAGTTAAGTGGCTACTCAGGGGCATGAAGGTGG AAAGTAGAGTCAGAAACTAAAACCAGGTCTCGCTCATTCCAAATCTTACA TGCTTTCTGCAACAAGATGTTGGTGTTTATCTCTAGAACATTCTGTTCTG TCTACACTTAGTGTCCTTTAAGGCACTCTTCTGAATAAACTGAAAGTTTT GCTTCCCGCTCCCCACCATAAAAGTTGAATGACATATGTGCATAGAAGTT CACTGGTAGCTTTTTGTTTGATATGGTTTGGCTGTGTCCCCACCCAAATC TCATCTTGAATTTTAGCTCCCATCATTACCACCTGTTGTGAGAGGGATCA GGTGGGAGATCATTGAATCATGGGATTGGTTTCCCCCATAATGTTCTCGT GGTAGTGAATAAGTCTCATGAGATCTGATGGCTTTATCTGGGGAAACCCC TTTCGCTTGGCTCTCATTCTCTTGTCTGCCGCCATATAAGACATATCTTT TGCCTTCCGCCATGTTTGTGAGGCCTCCCCAGCCATGTGGAACTGTGAGT CCATTAAACCTCTTTTTTCTTTATAAATTACCCAGTTTTGGGTATGTCTT TATCAGCAGTGTGAAAATGGACTAATACGACGTTCTTTGGATTCTGGCTG AATGCAAATTTGTTTTATTTTCTAATTAGGAGCCCTCCAGCCAAATTATA GGTCAACAGCCCAAAGGGCAGCACAGTGAAGTGTGGGTTTTAAAAAGCCA CATACAGTGACGCATGGAGAAATGAAGATCAGCACTTGAGTCCTACCTGG AGTGTGCTCTAGAATGGGACAGGAGGCCAAGGATCCAGCACACCTGTGCA GCAGGAGTGGGGCCCAAGATGCCTGTGTCCCTGACTCACAAGACCTAGCA AGTCATTTCCTCATCTGGGGCCTGTTTTCTCATTTGGAAAATGGTAGATT TGGACAGGTTGATATATTTTTTTAAGTCATACTTATTAAGGTATACTTTA TATACAATAAAACTCACCCCCCCCATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTAGAGCGCAGTGGTGCAATCTC GGCTCACTGCAGGCTGCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTAGGACTACAGGCGCCCGCCATCACACCCGGCTAATT TTTTTGTATTTTTTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGAT CTCA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp1 HG03540.hp2 HG02615.hp2 HG02896.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0109 a0001c0001t0005g0177 a0001c0001t0005g0192 a0001c0001t0002g0109 a0001c0001t0005g0177 a0001c0001t0005g0192	3	298	0.0101	-1753	c.212 others(19): Show c.212-29221_212-27469del		MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1						chr3	TogoVar

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Search Results (Total: 2609 hits)