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	cds cds pos length	aa aa pos length	distance	status	chr	external
CSRNP2_chr12_51056205_51088596	51084595	GGAGTTCG others(3852): Show GGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAA AATACAAAAATTAGCCGAGGGTGGTAGCACGTGCCTTTAATCCCAGCTCC TCGGGAGGCCGACCCAGGAGAATGGCTTGAACCCGGGAGGCGGAGGTTGC AGTGAGCCAAGACTGCACCATTGCCCTCCAGCACGGTCAACAAGAGCGAA ACTCCGTCTCAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAAGGGGAAAA CCAAGATTAAGAAGTCAAAAGTTGTATGTGATTTGCCAAGGACACATAGC CTTGGTTTCTTCTTTGTTGTCTTTCCCTTGAACTATAAGGCTCGGCAAGC TCGAGCTGCATTCTCTTGTCCCCCGACCCCCACCCCGCCCCCTCATTTTG TTCTGTCATCTTGTTTGCTTCTACTTTCCCCCTTCCATACTCTGCTTGAA TACACTGGCCTCATTGCAGCTCCTTCAACTGGGCAATCATTCTCTTACCT CAGGGCCTTTTGTCTGGCTTCCACCAGCTAGCCACATACTTACTCCCTCA CATAATATCTGCTCGAATGTCCCCATATCCGAGATCTTCCCTAACCATAT TTCTTTTTCCCTGCATTAAGAGACAGGATTTCACTCTGTCACCCAGGCTG GAGTGCAGTGGCGCAATCACGGCTCACAGCAGCCTCAAACTCCCGGGCAC AAATGCCTAACCATATTTCTAAAATGGTGCTTCTCCTTAGTTTCTATCCC TGTGCCTTATATTTCTTCTTAGCATCCACGTATTTGTTTTTGTCTTGTCT CACTTGACTAAATTCGGTGAGAGCAAGGAATTGTTTTGTTTACTGTATCC TCAACACACAGTACAAAGCCTAGTAGTTGACATTTAAGAGTATGATAGAT ATTTATTGGATAGATGGATGGACAGCAGGATTTAAACTCACGTTAGGCTG GTTCCAAAACCTGGTACATTTTTCACTGCAACCAAGAAACTATGAAGCCA GATCCACTAGCTACCAAGCCATCTCAGCTTTAGAAGTGAGAGGCTGGATG GCTTGGGAAAACATGCTAAGAATTTCAGTTCTCTCCCCTAGGTGACATCA GAGACTCCAAGAAGCTAGGACACTACACTGCAAAATAAAAAAGCAGTAGA TCAGAAAAAAGCAATCTTTTGGTAACATGCACTTGTCATCTCTCTTTGCT GAAATTCAGAGGCAATATAATGAGTGATCAAGAGCATGGATCCTGGAGTG ATCGAGAGCATTGATCCTGGAGCCAGACTGCCTGAATATAAACCCCACTT CCTCTACTTACTAGTGGCATGACCCCGGGCAAGGGACATAAGTTTTCTGC CTTAGCTTCCTCATTTGCAAGCCAGGAATAACGATGTCTATCTCATTGGG TTTTGTGAAGATTAAACAGCTGATATATTGGAAAATGTTTACAACAGTCA GTGCTGTGTAAATGTTAGCTATTTTTAATCATAAGCTTTCTATTCAGTTG TGTAGAAGGTTTGGTTCATGATCCCATTCTTCCTGTGCATACAGAAGACA AAAGGGAAGAGAAAACTATCCTAGACCACTCTATAGAATCAGTAGGCTGA GTAACAAAAAACCAGCCTGATGCCCATGTTGAGGATGCTAAAAAAGTGTC TCATATGCCTACACATCCAGTGTTCCAGCAGTCATGGAAATTCATCAGGG TACCATCAGCCCCAGTGCCCAATGCATTAACCTCAATTGGTTAATGCCAC CAAACTAGAAGATAGCCAAACCAATGTTAGTACATCCTTTGAGAAGACGG CAGAATTCAATTTGGCAATAAGCTCTTGATCAGTCAGAAGATCATCTGGG CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCTGAGG AGGGAAGATTGCTCGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGG AGGGAGACTCTGTCTCACAAGAAATTTTTAAAAATTAGCCAGGTGCAGTG GCATGCACCTGTGATCCCAGTTACTTGGGAGGCTGAGGTGGGAGAATCAC TTGAGCACAGGAGGTCAAGCTGCAGTGACAGCTGTGTTCATGCCACTGCA CTCCAGCCTGAGTGACAGAACAAGACCCTCTCTTTTTTAATTAAAAAAAA TAATAAAATAGAGATGGGGGTTCTCCCTGTGTTGCCCAGGCTGGTCACGA ACTCCTGTGCTCAAGCAATCCACCAGCCTCAGCCTCCCCAAGTGCTGGGA TTACAGGCCTGAGCCACCACACCCGGCAGAGACTCTGTCTCTAAAAATAA AAATAATAGGCTGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTGGG GAGGCCAAGGTGGGTGGATCACTTGATGCCAGGAGTTCAAGACCAGTCCA GCCAACATGGCGAAACCCCATCTCTACTAAAAATAGCTGGGAATGATGGC ACGAGCCTGTACTCCCAGCTACTTGGAAGGTTGAGGCATGAGAATCGCTT GAACCCAGGAAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCAACTGAACT CCAGCCTGGACAACAGAACGAGACTCTGTCTAAAACAAAAAACAACAACA ACGAAAAAAATCATGACCCGAGCAGTGTTTTCTTTTCTTTCTTCCTTTTT TTTTCTTTTCTAATAGAGAGAGGGGTCTCACGTTCCCCAGGCTGGCCTTG GACTCCTGGGTTCAAACAATCCTCCTGCCTTTGCCTCCCAAAGTGCAAGG ATTACAGGCATGAGCCACCACGCCTGGCCCTGGGAAGTGTTTTATACTTT GGTCTTGCAGCTATGACTGTGTGTGAAGGTGATCTTATAGTCAGTAGTAT CCTTAGATTATTGAGCTAATGAACAGGTGTATAGTATTCAGTATAAACTG TTTTACACTCATAATCCCTTTAAAACTCTCAAATAACTCTATGAATTAAG TATTACCTCCTTTTTAATACTTAATTCATAGGGTTAAGATGATAAAATTG AGGCTTGAAAGATTACTCTGTCCAAAGTCATATCCAGGAAGAGAAGGATC TGGGATTTGAATGCAGGCCTATCTGACACCAAAATATATACTGTATCAAC TACCTCTTACCACCAAAAGATAAACGAGAACACATTCCCCAGAGAGGTGA AAATAAATAGGACAGAGGATATAATATGTTGAAATTCTTAGAGAAAAAGA GTTAAAATAAAAATCTAAGGCATTGTGTTTGTTTTTCTGAAAAGGTATCT GTAGACTTAGCCCTAAAGTTGTTATGCTACTTCACTAATTGACATTTAAT TATATTATATTCCAGATCTAGAGAGACAGGCACCTCTTTGTGACTAATTC CACACTAACAAAAAGAGAACAGTATGTGTAAATCTGAGAAAAAGAGTGCC ACAGCAAACTGAAAGCACAAACACCAAAGAAGTCATATGCGCCATTGCAC TCCAGCCTGGGCGACAAAAGTGAAACTCTGTCCTCCCACCACACAAAAAA AGGAAAAGAAAACAAGAATCTACATTAATTAAAATGTGCACCTCATCTTA AACATATCTAATACATGAAAACAGAGATTCGCATAATAGGTAAACCAGTT ATAACTCATGTCCCAAAATACCATATCAGTAAAAAATAGTACAATAAGAC AACAAATAATACAATAATATTAGTTTAAATAGCAAGTTCCCTTATAATTG ATATTAATCCAATTGAAAACTTTAATTCATATAAACTTTTCAGTGTCTGA ATTTGAAAATGCAAATGCTAGACTTACTTGAAATTTTTGGCCAGGCGCGG TGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCGCAGGTGGGTGGATC ACAAGGTCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	420	0.0024	-3859	c.-52 others(11): Show c.-5202_-1344del		CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding				1000		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1013789	GGCGCCTC others(3851): Show GGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTG AGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGAC GCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGT GACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCC ACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GCGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAG ACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGA CGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGT ATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGG TGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACC AGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTC CACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCA GGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCATTGT GTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG TGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGC GCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAGA CCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGCC TCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGAC CAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACT GTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGT GACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTG ACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCA CTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCAC TGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACT GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGAC GCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTC CACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACG ATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGC CTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGAC AGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTG TGTGTATGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACA GACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGAC GACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTG TGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACG ATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGAGACCA GGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACT GTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACG ACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATG CCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGAC CAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCT CCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCA CTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGA CGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTA TGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGC GCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGTGACCA GGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCC ACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCGGGA CAGATGACA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-3858	c.73+ others(19): Show c.73+105824_73+109681del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					chr8	TogoVar
DLGAP2_chr8_732628_1713476	1013676	AGACCAGG others(3850): Show AGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGAC GCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGT GACCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTG CCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGAC CAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGAC AGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGA CGATGCCTCCACTGCGTGAGACCAGGACAGACGATGCCTCCATTGTGTGT ATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGG TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTG TGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGC CTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCC ACTGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGA CAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACT GTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACG ATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGT GACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGAC CAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCT CCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAG GACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCA CTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGA CGATGCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGT GAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGC CTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTC CACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACA GACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAG ACGGTGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGA CGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGT GTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCC ACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCA GGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGA CAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGAC GGTGCCTCCACTGTGTGTATGACCAGGACAGACGATGCCTCCACTGTGTG TGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACG ATGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGT GACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCT CCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGA CGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATG CCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACC AGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTG TGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACA GACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGC GCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCC TCCACTGTGTGTATGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGAC CAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCA CTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG02895.hp1 others(4): Show HG01071.hp2 HG01496.hp1 HG02895.hp1 HG02922.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0001c0011 others(2): Show a0001c0003 a0001c0009 a0001c0011 a0002c0001 a0002c0004	a0001c0003t0001 a0001c0009t0012 a0001c0011t0015 others(4): Show a0001c0003t0001 a0001c0009t0012 a0001c0011t0015 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003	a0001c0003t0001g0027 a0001c0009t0012g0006 a0001c0011t0015g0002 others(4): Show a0001c0003t0001g0027 a0001c0009t0012g0006 a0001c0011t0015g0002 a0002c0001t0005g0035 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0004t0003g0009	7	40	0.1750	-3857	c.73+ others(19): Show c.73+105734_73+109590del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
PCDHB16_chr5_141177387_141191226	141187378	CTGGGGAG others(3841): Show CTGGGGAGTGTCCTTGGCAGGTTCTGGGTTTGGACGTTATTCGGTGACTG AGGAAACAGAGAAAGGATCCTTTGTGGTCAATCTGGCAAAGGATCTGGGA CTAGCAGAGGGGGAGCTGGCTGCAAGGGGAACCAGGGTGGTTTCCGATGA TAACAAACAATACCTGCTCCTGGATTCACATACCGGGAATTTGCTCACAA ATGAGAAACTGGACCGAGAGAAGCTGTGTGGCCCTAAAGAGCCCTGTATG CTGTATTTCCAAATTTTAATGGATGATCCCTTTCAGATTTACCGGGCTGA GCTGAGAGTCAGGGATATAAATGATCACTCGCCAGTGTTTCGGCACAAAG AGATGGTCTTAAAAATATCAGAAAATACAGCTGAAGGGACAGCATTTAGA CTAGAAAGAGCACAGGATCCAGATGAAGGTCATAACAGTATCCAAAACTA CACGATCAGCTCCAACTCTTTTTTCCATATTAAAATTAGTGGCAGTGATG AAGGCATGATATATCCAGAGCTAGTGTTGGACAAAGCACTGGATCGGGAG GAGCAGGAAGAGCTCAGCTTAACCCTCACAGCGCTGGATGGTGGGTCTCC ATCCAGGTCTGGGACCTCCACTATACGCATTGTGGTCTTGGATGTCAATG ACAATGTCCCACAGTTTGCCCAGGCTCTGTATGAGACCCAGGCTCCAGAA AACAGTCCAGTAGGGTCCCTTATTGTTAAAGTGTCTGCAGGAGATGCAGA CTCAGGAGTCAATGCAGAAGTATCCTATTCATTTTTTGATGCTTCTGAAG ATATTTTAACAACGTTTCAAATCAATCCTTTTTCTGGGGAAATCTTTCTC AGAGAATTGCTTGATTATGAGTTAGTAAATTCTTACAAAATAAATATACA GGCAATGGACGGCGGAGGCCTTTCTGCAAGATGTACAGTTTTGATAAAAG TATTAGATTCCAATGACAATCCTCCTGAACTGATCATATCATCACTTTCC AACTCTGTTGCTGAAAACTCTCCTGGGATAGTATTGGCTGTTTTTAAGAT TAAAGACAGAGACTCCGGAGAAAATGGAAAGACAATTTGCTATGTTCAAG ATAATCTGCCTTTTTTTCTGAAACCGTCTGTTGACAATTTTTACATCCTA ATGACTGAAGGTGCACTGGACAGAGAGAGCAAAGCTGAGTACAACATCAC CATCACCGTCACTGACTTGGGGACACCCAGGCTGAAAACCGAGCACAGCA TAACCCTGCAGGTCTCCGACGTCAATGACAACGCCCCCGCCTTCACCCAA ACCTCCTACACCCTGTTCGTCCGGGAGAACAACAGCCCCGCCCTGCACAT CGGCAGTGTCAGCGCCACAGACAGAGACTCAGGCACCAACGCCCAGGTCA CCTACTCGCTGCTGCCGCCCCAGGACCCACACCTGCCCCTCGCCTCCCTG GTCTCCATCAACGCGGACAATGGCCACCTGTTTGCCCTCAGGTCGCTGGA CTACGAGGCCCTGCAGGCTTTCGACTTCCGCGTGGGCGCCTCAGACCGCG GCTCCCCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTACTGGTGCTGGAC GCCAACGACAACTCGCCCTTCGTGCTGTACCCGCTGCAGAACGGCTCCGC GCCCTGCACCGAGCTGGTGCCCCGGGCGGCCGAGCCGGGCTACCTGGTGA CCAAGGTGGTGGCGGTGGACGGCGACTCGGGCCAGAACGCCTGGCTGTCG TACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGTGTGTGGGCGCA CAATGGGGAGGTGCGCACCGCCAGGCTGCTGAGCGAGCGCGACGCGGCCA AGCACAGGCTGGTGGTGCTTGTCAAGGACAATGGCGAGCCTCCTCGCTCG GCCACCGCCACGCTGCACGTGCTCCTGGTGGACGGCTTCTCCCAGCCCTA CCTGCCTCTCCCGGAGGCGGCCCCGGCCCAGGCCCAGGCCGACTTGCTCA CCGTCTACCTGGTGGTGGCGTTGGCCTCGGTGTCTTCGCTCTTCCTCCTC TCGGTGCTCCTGTTCGTGGCGGTGCGGCTGTGCAGGAGGAGCAGGGCGGC CTCGGTGGGTCGCTGCTCGGTGCCCGAGGGTCCTTTTCCAGGGCATCTGG TGGACGTGAGCGGCACCGGGACCCTGTTCCAGAGCTACCAGTACGAGGTG TGTCTGACTGGAGGTTCAGAGACCGGCGAGTTCAAGTTCTTGAAGCCGAT TACCCCCCACCTCCCGCCCCATAGGGGTGGGAAAGAAATAGAGGAAAATT CTACTCTCCCCAATAGCTTTGGATTTAATTATTGAAAGGAACCCACTTAA TAAAGACATTTACTTCTTTAATATATTCTTGTTGGCTAACTAAATTGTGT ATGCCCACCACAAAGAAGGTACTATTTTTTGTTTGATTCATCTTCAACTT TGCGTATTATGCTTAACTTCACAAGTTAACTTTTTCTTATTTTGTATCCT GATGAGGCATTTCTTACTAGAATCCCATAAGTGAAATATAATATTTTTCA AAGTTGATATCATTTAAAAATTTTTGGTCGTTTTAAATGTCTTTATTGAC TTTAAATTCATTGCCTCTACATTATTCATTAGTTCTTCTTTTCCTAAAAC TTTTTACTTGTTAAAATAGTCTGCTGCATGTAATATGTGCTTTTACTATT TGATATTTCTTCTATTTTTCTTTTGAAACCGGTGTTCTTATTGGTTTGCC ATCCTTGTTCATTACAACTGTTTTTTGTTTGTTTGTTTGTTTTTTGGTTT GTTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTC AAGCGATTCTCCTGCCTCAGCCTCCAGAGTATCTGGGACTACAGTTGCAT GTCACCACGTTCGGCTAATTTTTGTATTTTCAGTAGAGACGGGTTTCATC ATGGTGGCCAGGATGGTCTATCTCTTGACCTCGTGATCCACCCCACTCAG CCTCCCAAATTGCTGGGATTTACAGGCATGAGCCACCGCACCCAGCCTAC AATAATTTTCTTAAACTTTACCTTTTATTTTAAAGTTCTAGTTTCCCGGC ATTGATAGTTCCCTATTTGAAATATAATGTTTCTCTTGTAAGTGATATGA TAAATAAACCCCTAATTAGCCTTAGAAGAAAAACCACTGCAAGATATTAA GCGTGTGTAAATGGGCTTTAGTCTGGAAACCAAAAAAAAAAAAAAAATTT AGTCATTCTATAGGATCATGTGAAAATATTTAATTTGCTCCTTTTAATTC TGTATAAACAAATCAGAGGTTCCTGAGGTTCCTGTTAAATTTTTAATGGC TAATAGCCCAGTGCCATCCAGTTGAAAAAACAACAGCAATCACAAAGTAG AGGTTTATATTGTGCGGCTTTTATATTCAGCTATTAGAGTGTTATTGGTA GTGTCTAGCCTTTTCCTCCACGACATTCCTTGACTTAATCCATTTGGGCC TATTATAGACAAAATAGAGCTTCTTTCTAGATATAAGGTCTTTGAGGCAG GGCTCAGTGGCTCATTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGG GCAGATCACCTTAGGTCACGAGTTTGAGACCAGCCTGACCAACGTTAAGT AACCCCGTCTTTACTAAAAATACAAAATTAGCCAGGCATGGTGGCACATG CTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACC CAGGAGGTGGAAGTTGCTTTGAGCCGAGATTGCACCATTGTACTCCAGC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	452	0.0022	-3848	c.24 others(11): Show c.2489_*6336del		PCDHB16	ENSG00000272674.4	transcript	ENST00000609684.3	protein_coding				1153		chr5	TogoVar
CALCR_chr7_93419486_93579724	93520315	TAGTTCAA others(3839): Show TAGTTCAATTAGATAATTTTTACTTTCTTGACAGGTAATGTGTAAACAAC ATGTGTGGCATTTTACCCAGCTGTTTTCCCTACATTTCACTTATACCACG ATTTAATCATTAAGAGAGTAAATGGAATATTTTCCATTTGTTGCATCAGA AGAAGCATTATTGACTATTTTTTACAGTCCTCATTGTTCCTTATTGTGCC ATTTTTATTTGTATAAGTAAATGTTGCTGAATTTAGAAAATTTATTTCTA GCAAAGATATAGCATTCCTCTCACCCTACTTAATTTGTAATAATTCCATG TACAGCTATAAAAAAGAGAAAAACATCAACTCTACAAAAATTAGCTTATT TACCTTGGAGACAGCTAACTATAGCTACAAATATTCTGACAAGAAATGCA GGTTTCTTCTATAGAAATTGTCTGATTTTTATTTATTTTAAATGGTACAT GGTGCACTTCCTACCTGAAAGTGGGGCCAATTTTTTTATGAACTCTTTTA CTTTGAGTTCTATTGAATTTAAAGAAACAAAGACCAAATTTTGGTGAGAT TTTTAGATTTATACTTTTTATAGGGCCACTTTAAATGGTGTTGGAGACCA TTAGCAACAAATACATGCAATTCGAGAAAGGTCACCATGACTTCCTGCAA ATTAGGGGTTTTATTAGGAAACCATGGCTATAAAACATTTGGTGTTTCTC AGTTGGCTCCCTGTGTAGGTGGCATATTTCCTTCCCTATGTTTCACAGCC AGTGAAAGGTCCAAACCCTTCCCCTGGTACATCTAATGTTATTCAAAACA AATCCAACAATTTGTCACATTAAGATCTTATTTAGTAAATAGCTCTAGGG ACTATAAGTTCTAGTACCTCAGAGTTCCAACTGATTGATTTGTTGCCAGT AAGGCTAAAGTTGGGGCCAGCCTGGGTGGACCGTACCTCTGTTCAGTGGC CCAGATCACAGAGGTCACTGGATACAAAGGCACTTGGTAGGAAGATATGT CTGGTATAGCAGCAGTTGGCCACCTCTTCTATGCATGAGAAATAGTATAC TGTCCAGACCCTACTGGCAAGTAGGAACAACCTCATTTTTATAGATACAA AGGAATAAGCCATATATTAAAGTGTGTACATTCATATTTCCCAAATAGAT ATTTTTTCCCTAAGCACAAAAAACAAAGGTACCAAGAAAGTACATCCTCT AATCAGGAAGCTAGGGGGAGAATCTACTGCTGACAAGTAAAAATTACAGA GCTATAAGATCCCTTTAATTTTCATCCTAGATTCTAGATTTTATTTTTCT AAACCATTCTTTTTGTAGCCACATAATTCCAAACCATTCTTTTGTATCCA TATAATTCATTGCTAGGGACTCTTTCCCATTCAGAACTGTGCAGAATTAA TGATATGAAGATGCATAGATATTGCCATATGTATTACATATCTATTAATA CTATTTTATTCCATTACATATCTATTAAATACTTTATTAAATAATTCAAA TCTGCATTAAGAATTAAATAATTCTTTCTCTTTATCAAAATCCCAAGGGG TACAACATTTTGATTGCTAACTTTTGTTATGTGGTCAAGCTCTGGCTTTA CAGTATCATTTTGGAGAAATCAGAAAACTACCAACAAATTTCTGAATGCT CTTAACTTCAGTGAATTCCGTTTCCCTTTCCCCAATATTTTGTTTTGTTT TTTTGAACAATAGTTCAAAGATAACTTCCATAATTATAAGTATGTAAATG AAACAATTTGTGTATGTTTGCATGAGTGTCTGAGCGGGGATTTATTATTT TTTTAAACACAGCATGAGGCATATCACTCACATCATAGAAAAAGCCATTT TTAAGTTTATCAACTTAAAAATTGAGTATCCAATATTTTAGATGATAAAT CTAGCAAAGATATAAAGAAAATGGCTTTAAATATCTCAGTGCTGATACTG ATTTATCAATTTGTAAGACATTTGAAACTATTTCTCTTTTATATTCAAGA TTTATCATCATTCATTGAATTGAATATTATGTGATTGTTTGCTTTAGATG CTCTGTGGACAGGAAGTATGTCCCCATCTACTTCGTTTTTGGCCCTCTAG GTCCTTCAAGGGCTTTCAGAACTGGAGGTTGAGTGTACTTGCACATAGGT GTGTTCACGTACCTACCTGTCTACCTATCCATCTACCTACCATGTCCTTT TCATGCAAATTTTTAGGTGTCAAGGATTTACCTTATAAAAATGAAGTATT TCAGACTTGCAGGGTAAAATTATTTCTACAATAATTTATTTCTACAATTT CCTTCAAATCTTCCCATTTTGAATCTAAGTGAGTCAAAAAGAGCTTAGTA GTCTTTGCAAGATCACAAAGCCAGTTCAAGGCACAGGCAGGAAAAGCCCA GCATGCCATCTGTGCTCCAGGCTTCCTTCAATTCCATCATGCTGTCTTGT TTTGTACAGTTCCTCTCATGTTAGTATGAAGATATATATAATTAAGAAAA AAGACCAGTATTTAAGTTAATTATTTTTTAAAGTCATGTTCTGTTATGCC ACTGGCAAACCTTTTGGAAGCAAAAATCAAGGAATGAAGCACAATCAATT TATTTTTAATTAGCTTATTACTTCCTGCTTTTTTTCAGTTTGTTGAAAAT AGGTTAGGAAAATTGAGATGATTCTACTACTACATTATTAAAGTTAATGT TTTAAATTAGCATTTGAAGCAATACTGATCACTTTGAAATAGAATAGAAT ATGGTAAATTAAAATTTATTTGTTAAAATGAATGCTCAAGAACACTTCAT CCATGAATGTGTTCCTGGATTAATCAGGTTGCTAATTTGTTTCCTTCCTT ACCACTTAGAATCTAGAAAAATTGCTTTGAATTTTCTCTCCAATAGTTTC AAATACAAACAGTTGCCTACTTCATTCTGGATAGTATATTCCTTTCCATA AGGACTTAATTTTGACATGCTTCTGTACCCCTCACGGTCTCCTCCCATTT TTTGGTAGAAACACAGAAGGTGCTTAATAAAAGTCTTGAAATAGACTAGT GATAAAAGAATGAATCCATATATACATTGTTCTTGTAATCACTACATTTG TTATTTAGTTCCTCTCCTGGACTGTGAGGTTATCGAGGGCAGAGACTGTG TCTTATTCGCTAGTGTATTCCTGTCATCTACTAGATATTCAGTACTGCTT GAAGAATGAATCAATGATTTCTTCTGACTTTTATTTAGGTATATGTCTAA TGTCTTTACCTAGTCTGAGAGTTCTTTGAGAAAATAACTCATATTCTGTT GATCTCTGTAAGCTTCAAATAAGTTCTTATTATCCTATGAATAAAGTAGC ACTTCAAAAGCACTAGTAAATAAGCCAAACATCACCTTGGATTGCTTTTT TAAGTCCAGGATTTTTTTCTATTTTTATAAGTATAAACTATGCTATTGAA ATAAAATTCGGGTCAATATAAAGAAGTTTCTAATATTTTTATATTATTCA TTTGATATCTAATTCCAATATCTAATATTTTGATAATGAGGTAAGTTGCC TTTTGAAGTCACTGATTTTCTAAGATCCAAAATCTAACAAATGTGCATAT TACTGCCTAATAATTTCTCTAATGGATGCTCATACTTTCTAGAAATAATT ACAGATAATGTATTTATAACTCTAAGACTCTGACTATAACACTATATAAT TACATTTCTACTTTCATCCTTAAATATGTTTCATCATATTAGTAGTAATG TTACTCATTAAGTAAAATGAAAAATATATAAAGAAATAAAAAGTTGGCTA GAGTCTTACCACCCCCAAATGCCCTTAATTTTTGGTCAATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	292	0.0034	-3846	c.-26 others(19): Show c.-26-37154_-26-33309del		CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13					chr7	TogoVar
CPZ_chr4_8587765_8624752	8620906	CAGCATGG others(3839): Show CAGCATGGTCCCCACCAGCACCCTCAGCCTCGTTCCATTGCCTCCTGGCA GCTATGCCCTGAGGCGAAGGCCTCGGGGTTCCCAGCTGAAGCCCAGAGGA GCAGGCACACCCCCGGCGCTGGGTGGCGTGCTCTCGGGGGAAGGCATGGG GAGGGCTCAGGCAGCCTACAGCCCTCAAGTCTTACACTGGCACAACAGCG CTTGGTTTGCGGAGCAAGAATGATCTGGAGTGTTTGGGGAACATCTCACA GCCTCCTGAGCCCCTGCATCCTACATTCACCCATGCGCCTAGTGACTTGT AAGTTTACATTTATTTGGCTCCACTGCATACAGGGCACCGTGCAGGGGTC CTCTGAAATCCCGGGAGGCCCGTGGAGCAGACCTCTGCTTCGTGCTTTGC TGAAGTGGGTGTGGAAACAGCAGGCGCAAGGTGCCCAGGACTCGGGGTGT GCAGGTGGCCGCTCAGTCTCAGTCCCCCCGTGGGGCACCTGCACGAGGCC TTCCCTGCACTTCATTCTGTCCCCACCCGTTCACGCTGTCTAGGGAAGAG CCTGCTGCAGTGGGTGTGTGGGGTGGAAGGACTCATTCCAGAGCCCAGTT CGTGTCAGGGGCCAAGGGCCAGGCCCCCGGCATAGAAACTGGGCCGAGGA GTGGGTCAGGGAGCCTTGGGGAAGGCTGTGCAGGGGGGCCGTGGCAAGAG TGGGGGCCGGGGAGGTGGAGACGAGGAGATAGCATTCTCTTCACACACCA CCCCGGATCCAGCCAGCGGGGGGCCCTTCTGCACTTCCATGTCCTTTTTT GTTGGTTTGTTTTGAGACCGAGTCTCACTCTCTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACCTGCCACC ACACCCGGCTACTTTTTGTATTTTTTTTTTTTTTTTTTTAGTAGAGATGG AATTTCAACATATTGGCTAGGCTGGTCTCAAACTCCTGACCTCAGGTGAC CCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGAGTGAGCCACCA CGCCCGGCCCCTTGTCATTTTGCTAGAACCTGCACAGTCCTTAGTGACGT CCTTGCCTCTGGCAGGATCCCCTGGCTGGGCCCTGCTGCCCCCCTCACTT TCCTCAGTCCCTGCTTTCCAGTGTGAAAGCTGTCAGAATCAAAATGGAGA CACTTGTCTTAAACAAAACAAAACAAAACCCCAACCAATAGAGCTGGGAA CAGCCCTGACGGTATTCCCCATAAAACCATCACAGAAGACAGCAAACACC ACAATCGTGAGCAAAGTCCATCACAACCTCACACAAAAAACACTTCTGTG AGGACACCTGCCCAACCTCAGACTGTTACCACCCGTGTTCTCGATTCCTG TGGCAAGGATAAATATCCCAAAACAATTCTGTGATTCTCTTCACTTTGCC ATTAAAGCCTCTGTGCTTTTACCTCCCTGAAAACGCACAGCGGACTCCAG CATACGTATTTGCACGCAATGCCCGACTCCTGAACGAACCTCGTTTTCAT TTGGAGAGCCTCTCTGGCGGTGGTTCGGGTGGACGCTAGTGTGGACATGG CATTGGGAAAACGCTGCCTGTGCACCAGGGCTGCCTGTTGCTCCAGGGGT GCTCACTGCTTCCAGGCCCGTCCGTGGACAGAGCTAGATATCCAATTGTT TTTAAAGGGAAAACACAAGGCCAGGCGTGGTGGCTCACACCTGTAATCCC AGCATTTTGGGAGGCCGAGGCCGGTGGATCACCTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAA AAAAAAAAAAAAAAAAAAAAATAGCTGGGCAAGGTGGCAGGCTACTCTGG TGGCTGAGGCAGGAGAATGGCTTGAACCCAGAAGGTGGAGGTTGCAGTGA GCTGAGATCACACCATTGGACTACAGCCTGGGTGACAGACCAAGACTCTA TCTCAAAAACAAAAACAAAAATAAAAAACACAGAGGGTTCCTGTTGCTAC TTCCAATTCCAAACCAGAATGACCTTCTCCTGTGCAGAGAATCCCAGATT TCAGGGCAAAGGAGGGGAAGGACAAAGTAGAAAGTCACACAACTGTGCCT GCTTGATCCAAAGCACACACGACAGTCTCACAGCCCAGTGCTAGTCCGCT ACCCACAGTGCAATCACTGCAAACAGCTCCAGTTGTTTCCTCAAGTTCCT TTGGTTCTGGGATATAACCCACTAGGGCTATATGTAAGCTCCGAGGATTG GCTTTTAATATTCCTGGCAGCTGAGAAGAACAAGGTGCCGTGAAGAGCCA CAGCCCCTCCAGAAACTGCACCTGGGCAGCGGGCCGTGTGGCCACAGCTG AGACCCTGAGGAGTGGGTCCCCAGGGGACTGGTCTCGGGGAGAGGGGCTG CCTCTTAAAACACGACGATGGACAGACAGATGGATACGTTCAACAGCAGC ATGAACAAGTTCTACAACTAGAAATCATTATTTGTAAAGGAAAAACCCAT TTACGAGTTGAATCAGAGGAGAGGCTCGTGTCTCTGAGTTCTGAATTCAT GTGGGGAGGAACAAATAGAGGAATTACCTGAAACGTAAAGCAAAAATACT GCCTCGAGGAAGTTATGAGGGAAAAGAGATTTTGAGAACAGATCCAGTAG CCCCATATGCAAATAATAGGGAAATAAAATATAATAGAAGAAAGGCCGGG CGCGATGGCTCACGCCTGTAATCCCTACATTTTGGGAGGCTGAGGTGGGC AGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGAGAAA CCCCATCTCTACTAAAAAATATAAAATACAAAAAATTAGCCGGGCATGGT GGCAGGCACCTGTAATCCCACCTACACTCGGGAGGCTGAGGCAGGAGAAT CACTTGAAACCATGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTG CACTCCAGCCTGGGCAACATAGTGAGACCCTGTCTCCAAAATAAATAAAT AAATAAATAAAAGAAGACGGACTGATGTTTACAAAGCATTCAGAGGAAAG GGCTCTGCCCTGACACTCTATACCCCAGCATGGATAATAATAATAATCAG TGATATAATAATAGCCGATGCCCATGGACAGTTTTCCCTATCCAGGCACA GCTTCAGTGTTGTCTGAGCTTGTTTAATTTGTTTCCTCTCCTTAAGGAGA AACATATTAGAATTATCTCCATCTCACAAGCACAGACAGGTCAAGTGACT TATGCACCATCACACAACCAGGGTTAGAAACCAGAAAACCGGGCCAGGTG CGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCCAAGGCGGGCTG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCC GTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACAGTGTGAACC CAGGAGGCAGAGCTTGCAGTGAGGCGAGATGGCGCCACTGCCCTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAGAAAAAAAAAAAAAAAAAAAAA AAAAGGAAACCAGAAAACCTGGCTTTGGGATGGGTCTGTGTTCTCAGCCA CTCTCTCACTGCCTCTGCAGATAGAATGCATGGGTCACAGAGAAAGAAAG ACATGTCCAGGTTGGCAAGGATGAAGGGAAGATGACCTCCGGACCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp2 NA18612.hp1 others(2): Show HG00544.hp1 HG00597.hp2 NA18612.hp1 NA18969.hp1 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0103 a0001c0001t0001g0188 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0103 a0001c0001t0001g0188 a0002c0004t0001g0265 a0002c0004t0001g0271	5	442	0.0113	-3846	c.12 others(11): Show c.1290_*5135del		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding				1155		chr4	TogoVar
CHAF1B_chr21_36380392_36424015	36403436	GACAGAGT others(3838): Show GACAGAGTGATATCTTATCTAAAAAAAAAAAAAAAAAAAAAAAAAGAAAC TTTACTATTTAAACCCTTTCAATGAATGCTTTTTCATTCATTAACATGTG TATGGAAGCCATAGCGCTAAAGCCAAAGATAAAGCTCCTTTATTGTTTTT ATTCTCCTCAATAAAGCGCATTTGTGACAGGATTAGACTCATGGACAAAC TTGTGGAAGCAGCAGTGGTCAAAATCAAAAGGTCAGCCAAGTAGCAAGGA CTAGATAGGTTTATTGTCCCTATGTCCCTAGGAAGGCAAGGGGCTCAGCC CAGCAAGATAAGGCTAGGCATTATTGTGGCCACAGTGTTCTCAGAGGAGA ATGTCTGCTCATTGCCGTGGCTCCAGGACCATCCTGTGCATAGAGATGAC AACATAGCCCAGGGTTGGGCCAAACGGGAGGGCACTGTCTTGGTTTGCCA CTGAGTCCCATCCCAGCTGAGCCAGGGAGGGCCTGAGAAGGGCGTGAATC ACACATGCAGCTGTGTGGGTGGGGCTTTAAAGAACACTGCGGAACATGTG CGAATGACACTTTGGCCCAAGAAGTCTCAGGACTAAGAATAAGTAGTTGT TTAGGTTATATTTACTAAAGTTAGTTATTAAAAGTTATTCACTAAACCCA GTAATAAATCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTTTTGCCCTG TTGCCCAGCTGGAGTGCAGTGGCACGATCTTGGCTCACCACTGCAGCCTC CGCCTCCCAGTTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GATTACAGGTGTGCGCCACCACTCCCAGCTAATTTTTGTATTTTTAGTAG AGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTG TGATCCGCCTGCCTTGGCCTCCGAAAGTGCTGGGATTACAGGCTTGAGCC ACCACGCCCGGCCCTTTTTTTTTTTTTAAATTATTTATTTTATTTATTTA TTAATTTATTTATTTTGAGATGGAGTTTCGCTCTTGTTACCCAGGCTGGA GTGCAATGGCACGATCTCGGCTCACAGCAACCTCCGCCTCCCGGGTTCAA GCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCATGCGC CACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAT GTTGGTCAGTCTGGTCTCGAACTCCGGACCTCAGGTGATCTGCCCACCTT GGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATTGCGCTGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTAAAAAGCAGAGTCTCGCTCTGTCACC CAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGTAGCCTCCACCTCC TGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACA GGCGCCTGCCACCACAACCAGATAATTTTTGTATTTTTAGTAGAGATGGG GTTTCGCCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAGGTGATC TGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGTTACAGGTGTGAG CCACTGCGCCCAGCCCCAGTAGCAAATCCTTTACTATTTGGCCACTCTAA AAATATTTTCAATTAAAATCAAGTAGCAAATGGATGTCTGTTATCAACGT TATTGTTCTTTGTGGTGTTAGTAAGTGTGGGAAAAACAGGAAAATGAAAT TACAAAGATTGGAAAAGAACAGATAAAAAACTGCAATAGGATTGTATTTC TAGAAAATCCAAGAGATTTTAAAAATAGTATTAGAATTTTTAAAATAATT TGATAAGATGGCTGGATATTATAAAATATATAAAAATTCCTATCTTTCGT CTATATTGGCAGTGAGTACTTAGAAATGGAAGGAGGAGAAATATTTCATT CAGAGTAGTGCAAAACCTGCAAAATACATAGAGTAAATTTATTTATTTAT TTATTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTACAGTG GTGTGATCATGGCCCACTGCATCAGCCTTGATCTCCTGAGTTCAGGGAAT CCTCCCACCTCAGCCTCCCTACTAGCTGGGACCACAGGCGTGTAGCACCA TGCCTGGCTAATTTTCTTATTTTTTTGTAGAGACATGGTCTTGCTATGTT GCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGCACCCCTTCCGCCTCGGC CTCCCAAAGAGCTGGGATTACAGGTGTGAGCCACCACACCCAGGCAGAAG TAAATTTAATGAGAAAGGGGCAGGACCTTTATGGAGAAGTCTAGAAGGTC TTACTGAAGGTTATAAAGCAAGTTCTGAACAAATGGAAAGATATGTCGTG TTCTAACAATTAACATACTAATTTCATTTCCAATTAGAATTGCATTAAAG TTTTTTTTTAATTGGATGAAATCTCAGCTTTGTTTAGTAGAATAAATGCT GAAGAATAGCCAAAGAAGTATTAAAAAAAAAACAGTGATACTTGGGAGGG CATTTGCCTCACCACATATCAGAAGATCCTATAACACTACTTTTAGCCAA TCAATATGGTGTTGCTATAGGACCAAACAAATAGATTAGTGGACCAGAAC ACAGAATCCAGAAAAAGATCTCAGGATATAAGGCGATTTAATATATGACC TCAGGTGCTGTTCCAGTGGAAAAAAATCTATTATTTATTTGTAATTAATT GTATGTTACTTAAATAATTCTCAAGAGAATTAGACACTGAAGGCAGATAG GACAAGAGTATGTCATTAAGAAGGTTGGGAAGTGTTGAGATTGGACAAAG ACCTATTCCTCTTTTTTTTGAGAGGGTTTCACCCTTGTCGCCCAGGCTTG AGAGCATTGGCGTGATCTTGGCTCACTGCAACCTCCATCTCCTGAGTTCA AGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCGG CCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTTACC ATGTTGGCCAGGGTGGTCTCAAACTTCTGATCTCAGGTGATCCACCCGCC TCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCC TCCTTTTTTTTTTAATTGACAGATGAAATTGTATGTAGTTGTGTATGACA TGATGTTTTGAAGTATATATATGTTGTGGAATGACTAAATCTAGCTAATT AGCATAGCATGGTCTCACATAATTAGGATTTCTGTGGTTTGAACGCTTTA TATCTCTTAGCATTTTTCAGGAATATAATACATTGTTATGAACCATAATC ACCATGTTGTACAAGAGATGGATCTTGCAAAGGGAGGACTCTATTATTGA ATGAGTAGTGCTGGGGTAGCCAGCTATGTGGAAGAAGGTAAAATTGGACC CCTTGCCTAGATGTAAAAAATAAATTCCAGGTGAATTCAGTACTTAAACA CAAAAGGTAAAAATAGAAAACTCTTGTAAGGAAATATAGGAGGACATTCT AGGAATGGAGAAGACCCAATTAAGACTGGAAACTGGCTGGGCATGGTGGC TCAAGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGTGGGTGGATCACCT GAGGTCTGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTC TACTAAAAATACAAAAATTAGCCGGGCATGGTGATGCACACCTGTAATCC CAGCTACTCAAGAGCCTGAGGCAGGAGAATCGCTCCAACCCAGGAGGCAG AGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCTAGCCTGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	346	0.0029	-3845	c.757 others(16): Show c.757+595_758-1471del		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	8/13				INFO_REALIGN_3_PRIME	chr21	TogoVar
DYNC2I2_chr9_128628653_128661847	128649709	ACTGGGCC others(3834): Show ACTGGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGTGGGCGGATCATGAGGTCAGGAGTTCAAGACCAGCCTAACCAAC ATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGT GGTGCGTGCCTGTAGTCTCAGCTACTAAGGAGGCTGAGGCAGGAGAATCG CTTGAACCCGGGAGACAGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCA CTCCAGCCTGGGTGGCAGAGCGAGACTCTAAAATATAAATAAATAAATGA AAAATTTTTTAAAAAACTACTGGAAAGCAGCTGGATTAAACTAGTGGTTC TAGTGGTTCTCAAACTTTGCTAAGCATTAGAATCATTTAGGGAGATATTA TGAAACCAGATCCCCAGGTCATACCACATCCAAAGTAAGCCACAGTAACT GCAAGTAGAACCCAGGAGTCCACATTTTTCAACACTTTCCAGGGCATTCC AGTGTTGACTACCTTTGAGAAGAGGAATGAGGAGGCCCCCCTCAGCTGAG ACAGCAGGGCCAGTCACTGACACTCAGAAACTCCACGTGAACAGCACTGG CTTTCACTTGGCTTTCTGGTCAACAGTCCCATTCAACCCCATAAGAAGTA TCCTAACAATCGCACTTCACAGAAGAGAGACTGCGTTACTAGTCCAGGGC CAAGCCACTGATAAAAAGGATCTGCACCCTCAAACTCAGATCGAAAATTA AGGTCCAGGACACTGTCCCTCTAAACAGATAGGGACGTGGCAAGAAAAGT CAAGTCAGGCCAAAGACCATATATATATATATATATATATGCCACCACGC CCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTCGGTCA GGCTGGTCTTCAACTCCCAGTCGACCTCAGTTGATCTGCAAGGCTCAGCC TCCCAAAGTGCTGGAATTACAGGCATGAACCACCACACCCAGCCCCATTT TTGTATTTTTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAA CTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGAAT TACAGGCGTGAGCCACCACGCCGGCCCATAGATTACTTGTATAAAGAACA AAAAGTTAACTCAAAAAGCACCAGGCAGCAGTGGCGCAGTAGTCACCATG ACGGCTAAGGGGCTGGGTGCGGTTCTGCCAGGCTAGGAGCACAACCGGCA CCCAGAATCTGTCGCCGCTGCTTGAACACAGCCTGCACCATGGCCACCTC TGCCCCCTCCTCGGAGCATGTCGGGAAGCGGCATGAGATCTTTCACTGTC TCTATGAAGGCCTACAAGGAGTGCCCAAGCACCTGCTGGGTGCAGTGGGG ACCAAAGAGAAGTTGATCAGAGATTTTGATGAAAAGCAACAGGAAGGAAA CAAAAAGCTGGCAGAGATGGAGGAGGAACTACATTATGCACCTCTATCTT TCCGTAACCCCATGATGTCTAAGCTTCAAAACTACCAGAAGGGCCGGGGG TAGTAGCTCATACCTGTAATCCTAGCACTTTAGGAGGTCGAGGTGGGCAG ATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACC CCATCTCTACTAATAATACAAACATTAACCGGCCGTGGTGGCGCACGGCT GTAATCCCAGCTTCTCGGGAGGCTGACGCAGGAGAATCGCTTAAACCCGG GAGGCAGAGGTCGCAGTGAGCCAAGATCGTACCACTGCACTCAAGCCTCA GCAACAGATCGAGACTGTCTCAAAAAACACTACTGGAAGGACCTTGCCAA ACTATCAGGAGATGAGAAGCACACCTTGGAGAGCCACAACTGGAGGCCGA GGAGACATGAAATATGGCACACAGCCAGGCACGGTGGCTCACACCTGTAA TCCCAGAACTTTGGGAGGCCGAGGCGGGCAGATCACCCAAGGTCAGGAGT TTTGAGACCAGCCTGGCCAACACAGTGAAACCCCATTTCTACTAAAAATA TAAACAATTAGCTGAGTATGGTGGCAGGCGCCTGTAATCCCAGCTACTCA GGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGT GAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTGACTGAGTAAAACTT CATCTCAGAAAAAAAAAAAAAAAAAAGAAAGAAATATAGCACATGTGCTG CAGAGAATGAGCACATGGACTGGCTACAATCTCAAAGGGCAATGCTTCTA CAAGGCACTGGAAGCCTGATCCAGGTGACCCGAAGTACTGAACATTCTCA TCAGACTGGCACAGAAACTGACCAGATTGGCTCAGAAATCACAGAAGAAC CAGAGGAACAAGACAGACCAATTAGAAAGCACCAAGAATCGGGCCAGGTG CGGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAGGTGGGCAG ATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACT TCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCACTT GTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCCAG GAGGCAGAGGTTGCACTGAGCTGAGATCATGCCATTAAACTCCAGCCTGG GGAACAAGAGCGAAACTTCATCTCAAAAAAAAAAAAAAAAAAAGAAAGAA AGAAAGTACCAAGAGTTGGCCAGGTGCTGTGGTACACACCTGTACTCCTA GGTACTCAGGAGGCTGACGGAGGAAAATCGCTTGAACCCGGGAGGTGTAG GTTGCAGTGACCCAAGATTGTGCCATTGCACTCTAGCCTGGGCAACAAGA ATGAAATTCCGTCTCAAAAAAAAAAAAGAGGCCGGGCACAGTGGCTCACT CCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAAGTGGATCACCTGAGGT CGGGAGTTCGAAACCAGCCTGACCAACATGGAGAAACTCCCTCACTACTA AAAATACTAAATTAGCCAGGCATGGTGGCACATGCCTGTAATTCCAGCTA CTCAGGAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGC AGTGAGCCAAGATCATGCCACTGCACTCCAGCTTGGGCAACAAAAGCGAA ACTCCGTCTCAAAAAAAAAAAAGTAAGTACCAAGAGTGCCAGGCACGGTG GCTCACACCTGTAATCCCCAAGCAGTTTGGGAGGCTGAGGCGGGTGGATC ACCTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAGCATGGTGAAACCCTG TCTCTACTAAAAACACAAAAATTAGCCCAATGTGGTGGCGTGCACCTGTT ATCCCAGCTACTCAGGAAGCTGAGGCAGGAGGATCACCTGAAACCAGGAG GCGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTTCAGCCTGGGCA ACAAAGCGAGACTCCGTCTCACACACAAAAAAGAAAGTACCAAGAGTAGC CCAGGTGAGGTGGCTCAGGCTTGTAATATCTATACCTTGGGAGGCCGAGG CAGGCAGATGACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGG TGAAAGGTCGGGAGTTCAAAACCAACCTGGCCAATATGGCGAAACCCCGT CACTACTAAAAATAAAAAAAACTGGGCCGGACACGGTGGCTCACACCTGT AATCCCAGCACTTTGGGTGGCCGAGGCAGGCGGATCACGAGGTCAGGAGA TAAAGACTATCCTGGCTAACACAGAGAAACCCCACCTCTACT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02258.hp1 HG02280.hp1 HG01099.hp1 HG02258.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0281 a0001c0003t0001g0283 a0001c0003t0001g0286 a0001c0003t0001g0281 a0001c0003t0001g0283 a0001c0003t0001g0286	3	368	0.0082	-3841	c.186 others(17): Show c.186+2991_186+6831del		DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8					chr9	TogoVar
ZNF492_chr19_22629324_22672671	22655917	CAGGTTCA others(3834): Show CAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCGAGTAGCTGGGACTACA GGTGCGTGCCACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGG GTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGGTGATCCA CCCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCGCGC CTGGCCCTCTTCAAGTTTTTATAAATTGGTTTCAGAAAGTGAAGATCTTT TGTTGAGCCCCCAGGGTGATGGGATGTCCTATGGGTTTGTAGTGGAGAGG GGTAGGTAGCTTGTTTACAAAGGCTGCTGGGTCTGCATTAGGGTCCACCT TTAGTTGGCTTGTTACAAGGGGCTTAGGTAGTTGTAATTCCCATTTTATT TTTGGACAGAGTGAGTATCCTTCAGGACTTTGCTCTGTAGGGCAGACGCT AGGGCAGATTTCTGCACTTGGGTCTGCATATGGTAGGCTTTATATTAGGA TGTAGATGAGTTTGGCTTTCACTGAAAACCAGAGAGGATTTCCCATGGTC ACTGTGTGGGTTTCTACATAGGCAGAACTTGCCATGAACTGTGGCTCAGG GTGATAAAACTGAGTCATGGAACTGCTTCAGGGACCACAGTAAGGGCCAA GGTCTGCAGGCCTGCTGCATGGCTATAAAGGGGTGTCTGTCTCTAGGCTT CTGAAAGGGCAAGACCTCTCCCAGACTGTGGCTGGGAGGAGTTTGGGATG ATTGCAGTGTAAGTTCAGAATTCTCAGTGGGACCAAGTTTGGTGGGCCAT TTTCTGGTCTGTAGCCAAGAACAGGGGTCCTATAGTTTGCCACCTGAATG AAAGCCTGCCTTCTGAAGAGAATATTCCTCAATCTTGGGCATTAGCAGAG TTTCACAGCTCCCTCCGTAGATCTCAAAGCTCTTTAAGGGCACTTATTTT GGAGATGGGTTCTTGCTACATAACCCAGGTTGATCTTGAAGTTCTGTCCT AAAGCATTTCTCATTACAGGTTTGAGTCATGATTCCTGTTTCTCTCATAA AGGCATTTTTGTCAGGCTGATGAATTTTCTTGCTGTCAGAAAATAAGCAA ATAAGGCACCATTTATTTTTCCATCTTAGTGATGTCACTCTTCCTGTCCA TTTTTACTTTCTACTTTCTATTTCAATTTTGTCAGTAGTTTTAGATTTAG ACATTTAGGACAATATACTAAAATTTACATGTTATGTCTGAAGTGAATTA GGTAATTAGTAGACAGACAAAAAGGAAATATAGACAGGCAAAAAAAGATT ACAGGATTTTCACTCACTTTTGTCAGCTAGTACCTAAAATATGACATGAT TTGTTCCCAAATATTTGTTTCATATATCAGAGGCCCTGACCATATTCTGC AAAATAGATATATTTTTTCTTTATTTAGCAATGTAAGGCTATTTTTTGCT TCTAAATTTGGATTACAGCAGTTTTATTTTGTGTAAGAATAGCATATATT TAAAACTTAGAAATGATCTTAAAATGCTTATTTATCAGTTTGTCATTAGA GTCTTCTGTTTATGATTATACTGCATTTTATCTGAAACTTTTACTGCATT ACAGTGCATGCCAATGATTCAAAATAGCCACCTTCAATGAGTACACAGTT ACAGTAAAATATTACAGTTATCTACACAAATTCTTTGTTAATGCTACATC AAGTTACATACCAGATTTTATGAGTAAACATTTATTATTATTTTTTAGTT TCATATTAACGCATTTTTTCAGTGTAGGTTTCTTAACATAAGTTTATTGT GTTTTTTGGTTTTACAATTTTAGACAATTTGCAATTCTGTTTTTACATGT AAGTCGGTGTGTGGTTTAAGAGATAGATCAGCCTTATCTCTATTACAATC TGATTATATGTGTGTGTGTTTTTATCTATAAATATGACCCCAATTTTGGT TATGGCTAATCTTGTATATATTTTTTCTTGGCTGATTTTTAATGGTGGCT TTATCTTGTCTAAATGAGTAGTCATGGAAATAGTCTTATTTTCACCTTGT GTTTAATAATAAACATATTTCCTATGTGTGAGGGAAACACTTTTGTGACT TGACGGTAATTTTTGGAAAGATTTATAATTCTGGATCTTCTTCAGTTATT CTTCTAAAAAACAATTGTATAAACATATAACCTAAAATTTACCACCTTAA ATCTATTTAAATGTACATTTCATGGCCAGTCATGGTGGTGGTTCACGTCT GTAATCCCCGGATTTTGGGAGGCCAAGGCAGGAAGACTGAGCCCAAAAGC TTGAGAACATCCTGGAAGACATATGGAAACCTCATCTCTGTAAAGCATTT TAAAACTTAGCCAGACATGGTGAAGTGGTCCTGTCTCCTTGGGAGATTGA GGAGGGAGGATTACTTGAACCTGGAAGTTTGAGGCTGCAGTGAGCTGTAA TTGTGCCATGCACCCCAGCTTGGGTGACAGAGTGAGACCCTGACTCAAAA ACACTGTACATTTCAGGCATGTTAAGTATATTTACATTATTTTATAAAAG ATTTCTAGAAATTTTACAATACACATTAAACAACTACCAATTTTTCCCAT TTCCTGGCACTTTTCAAATACCGTTCTGTTTTCTGTTTCTAAGAGTATAA CTGCTTTATATATCTCATAAAATCTGTTTGTGGCTGGCTCATTTTATTTT GCATAAAGTCATCAAGATTTACCTTTATAGTTGTTAGAATATTTCCTGCT TTTTTTCAAACTGAGTAATATATTGGCATTTTTGTATTTCAAATTATATC TGCTGAACGATTTGGTGACCGAAATTTGCCTTGCTTTTACCTACTGGCTT TTAGTAACAATGCTAAAATAAATGTGGGTATGCAAATGACTCTTCATGTG ACCATATATGTGAGAGTTTATATATGTGCTGCATTCTATTTTATTAGTCT ACTTTTTCACCTTTATAGTCATACCAAATTGTTTTAATTCTGTAGCTTTG TGTTTTGAAATCAGGAACTGTAATGCCTCCAACATTGTTTTGTTTTGTTT TTAATATTTTTGGGTACTTTATTGTATGTAGAGATTCTGTATACTCGAGG GATTGCTGTTTCTGTTTCTTCAAAAATGCAGTGAGAAATTTGAAAAACAT TGCATTAAATCTGTAGATTGCATTGAGCAGGATGGACATCTTTACAGTAT TACCTTTTTCAGCCTTTCACAAGAGCATGCTCAAGAGTGTGTTGTTTAAT TTCTATATATTTGTTAATTTTTCAGATTTTTTTTCTCGTTGTATACTCAT TTCATTTTGGTGATAGAAAGTAATTTATAAAATTTCAGTTTTAAAAAAAC TGGTAAGACTTAATTTTCTTCTTTTTGTAATAAGAGGAGGTCTATCAAGG AAAATGTTGTATTAGCTATTGAGAACCATGTGTGTCCTGGTGTTGAGGGG TGTTTTCTATACCTCTGTTAGAAATAATTGTCTTACACTGCCTGGAAGTC CTCTATTCCCTTACTAATATTCTCATTTAATTTTTATTACGGAAAATGCA GTGTCAAAATATCCTACTATAATTATGTTGCTCTCTATGTGTCTCTGTTA TTCTGTCAATGTTTGCTTTATATGTTTGGAGCCCTAATGTGAGATACACA CACACACACACACACACACACACACAGAGAGAGAGAGAGACGTGTATACA GATTTGTCATAGGTTCCCAGTGAGTAAATCTGAAGTGGTTTTTTTTTGTT GTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGTCCCAGGCTGGA GTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0075 a0004c0004t0007g0075	1	366	0.0027	-3841	c.130 others(17): Show c.130+1912_131-4033del		ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr19	TogoVar
ADARB2_chr10_1172313_1742525	1235589	CCCCTCTG others(3832): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTT CAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAG AGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCC ACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGAT TTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACG TAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTA GGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGC GAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAG TTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACC AGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGG CGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGT GTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCA TGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATT TGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCC ACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTT CTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTG CCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCC TCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTC CGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCC CCCCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCC CCTGCCTCCCGGTGTTTACTCCCATCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCC TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGC ATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT CCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTC CCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCT CTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCT GCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGAT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCT GCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTTTACTCCC CCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0037 a0004c0005t0037	a0004c0005t0037g0064 a0004c0005t0037g0064	1	106	0.0094	-3839	c.136 others(19): Show c.1361+2703_1362-1745del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9					chr10	TogoVar
NLRC5_chr16_56984557_57088520	57007057	TTTTAGAA others(3832): Show TTTTAGAAAAAATCAAAATGTGCACATTAAAAAGTTTGAATGGTTCAAAA GGTCCTAAAAAGGGTCCACAGTGGAAAAGGCTCTCCTTTCCCAGCAGGCC CAGATCCCTCCTCAGACACAAGCCTGTCGTCAGTTTCCTGTGTAGCTTCC CAGAGTTGGTCACTATGTATGCAAATACACACACATTTAAAATATACACA CTCCACGTCCACGTGGAATGATGCAAAGCATCTAAGTGCCCGTTAATTCA CAACCTTGCCAACTCAGTAATATCCTTGCGAATCTAATAGCTAGAAAATG GTGTATCTTTTTAGTTCTAATGTATTATATTTATTCTATTTTCTGTGAGC TTGAACATCTTTTCATATATTTAAAAGTCATTGGGGCCAGGGGTGGTGGC TCATGCCTGTAACCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACCT GAGGTCAGAAGTTCGAGACCAGCCTGGTCAACATGGTGAAACTCAGTCTC TATTAAAAATACAAAAAAAAAAAATTAATCAGGCATGGTGGCTCGTGCCT GTAATCCCAGCTATTGGGAGGCTGAGGCAGAAGAATTGCTTGAACTGGGG AGGTGGAAGTTGCAGTGAGTGGAGATCGTGCCACTGTACTCCAGCCTGGG CAACAGAGTGAGACTCTGTCTCAAAAAAAAATTTTTAAATGTCATTGGTG TTTCCCTTTTTTGTAAACCTTTTATGTTCTTTGCCTAGTTTTCTATGAGG TCATTGGCTTTTTCAGTGTTGGTTTTTAGTAACTCTCGATTTATTAAAAC ATTTATACATTTATAGCTTTGTTTATGATGTATACATTTATAACCTTGTC TGTGATGCAGATATTTTTCCAATTTGTCATCTGGCTTTTGACCTTATCTG TGGTATTCTTTGACAATACAAAAATTTTAATTTATATCTGATCAGTTTCA TCCAGTTGTTTTTTTCTTTTTTCATGATTTCTGAGTTTTGTGTCATGCTT AGCAAGATGCTCTCTACTCTGAAATTATTTTCTGTAAAATATTTTTTTCA GCCAGGCATAGTGGCTCACACCTGCAATCCCAGAACTTTGGGAGGTAGAG GTGGAAGGATTATTTGAGTCCAGGAGTTCAAGGCCAGCCTGGGCAACAGA GCAAGACCCCGCCTCTATTTTTTAAAAGAGAAATTTTTTTAAAATACTTT TTCCCATGTTTTGTTTGAGCACTTACATTTTCTTAACTTTTTTGTCGTGA AACATAACACATAGAAAAATGTAATGTAAGTGTACAACTTCATGAATTGT TATAAATTGAACATATAGCTTTCTGGTACTTTCATGGTTTAACTTCTTAC ATTTAAATTTTGGTTTCATCTAGACTTTATTTTGATATAATTGTGAAATA GAAATCCATTTTTATTCTAAAAGAACACTTTTTAAATGTTCATGAAATGT TTTAAAATTTATTATATACCAAGCAAGAAAAAATCTCAACATAGTCCTCA AAGCAGAAATTGCACAGGACTTATTCTTTGTACAGTGTAATGCACAAAAA CTAATAAGAAAGCCTTAAAAACAACCCTTTATTAAATTACTCCATTCCAA ATTATAATTTCAATCTACTTAGCACATAAGTATTGATATACATTTATCGA AATTGGCCAAAAGTGTTTTATTATTTTTTAAAAGAAAAAGCCTAGCAATG GCTTAAGCAATAAAGTTTTTAATTTTAAAGAATAACAAACAGCCTCACTA AATCAGAGGAAAGAAATAAAAAGATAAAAGCAAAAATTACAGAACTAGAA AAGGGACCATTCCAGCAAAATTGATAAATGAAAACAAAAATTTGTTTTTC AAACATAAGAGTTACCAACGGCTGGTGAATCTAAAAAGAAGAAAAAACAA AGTAAACTAAATTAAATGTGAAGCCATGAAGAGATTTAAAATTATAAGAA AATAGGCCGTGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGTGGGTGGATCATGAGGTCAGGAGCTTGAGACCCGCCTGGCCAAC ATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGCTGTGGT AGCATGAGCCTGTAGTCCCAGCTACTTAGGAGGCTGAGGCGGGAGAATCA CTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCCGAGACCTTGCCATTGCT CTCCAGCCTGGGTGGCAGAGTGAGATTCCGTCTCAAAAAATAAATAAATA AATAAAGCTGGGCGCAGTGGCTCATGCCTCTAATCACAGCACTTTGGGAG GCCGAGGTGGGCGGATCACAAGGTTAGGAGATCGAGACCATCCTGGCTGA CATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATGAGCTGGGCATG GTGGCGTGTGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGAAAGAGAAT GGCGTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTG CACTCCAGCCTGGGCGACAGAGTGAGACTCCATTTCAAAAAAAAAAATAC AAGAACATATTATATACAACTGTGAGCTACACCATGTTTGAACATCTTGA CAAAATGAGCAACTTTCTCAAAACTAAATTGCCAAATGTTCATTTTTAAA AAGCCAAAAATAACCAACCAACACAATGAGGATAAATTTAAAGTGATCAA GTTTGATTTTTTTAAAAAACTGTTCAAACATCTTGGTAGTGCTGGGCAGG AAGTTGGCTTTCATTCTGGGTGAGATGAGAAGGCTCTAAGGGGCATAGGA CCTGATGTCATGGGACCTGATGCAGGCTCTGTCTTAATAGCTGACTCCTG CGTGGAGTAGGTTATTGGGGGATGGGTGGACAGAGACCAGGGAGGAGGCT GGTGCAGGAATCCCAGTGAGAAATGATGGTGTCCAGGCTAGGCCATAGCA GTAGAGGAAGCAAGATTCTGGAATGCACTTGGAAAATGAAGCCATCTTTG GGCTTGAGCTCAAGGAAGCATGAAGCTGCCCCTAACTGAAGTGGGGAAGG TGGTCTGGGGAGCAGTTTAGGAGGAGAGATCAGGAGCTCAGTTTCGGACT TGGAAATTTTGAAACGCACATGAGGCATCCAGGTGGAGTTGGGAGAATTA AATAATGCTGAAAGGTACTCACTTGGCAAGTAGCAAATATTCGCTATATT GTCTGTTCAACTTTGTCAACTGCTTTTCCAGTAGAAATGTAGTGTCCTTA TCACACATGCATAAATGTTAAACTCAAAAGTAAAATGAAATATTTTCTCA GTAGATATGAATAACTTTTTAATTTTTTTGTTTTTTGACATGCGGTCTCA CTCTGTTGCCCAGGCTGGAGTGGGGTGGCGAGATCATAGCTCACTGCAGC CTCAAACTCCTGGGCTCAAGCAATCCTCTGCCACAGCCTCCCGATTAGCT GGGACTACAGGCACACACCACCACGCCCAGCTAATCTTTTATTTTTTGTA GAGACTGAGTTGCACAATGTAGCCCAAGCTGGTCTCCAACTCCTGAGCTC AAGCTATCCTCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGA GCCACTGCACCTGGCTGCTTTTTAATTGTAATATTCATCCTCCATCCATC ATACTTAGTGCAAATATTTTTCCCCACCTATTGCCTTCCTATTTCTCTTT TATTTCACGTCATTTAGGGAAGTTTCATTTTTTTGTGAGCTATCACTGAT AATTTCTTATTTACTCATCATCTTGTATTTCTCTTCCTTACACATTGGGG AAATGTCTATTCTAGTTTTTAATGTAAATGTTCTTGTGGC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0013 a0001c0025t0002g0013	1	424	0.0024	-3839	c.-12 others(20): Show c.-127-10013_-127-6175del		NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	1/48				INFO_REALIGN_3_PRIME	chr16	TogoVar
RHBDD1_chr2_226831054_227004210	226871250	ATTTATAA others(3829): Show ATTTATAAATTTTCAAACATAAAGAAATGTTGATGCACCATTTGACAGTA AGTTGTAAACATAATAACTTCACCCCTAAAAACTTCAGCAGGCATCTGTT AAACAGAAAAATATAATTTTACAAAACCACATTACTGTTGTCATGCAAAA GAAAATTAACAGTAATTCCTTAATGTTGTTTAGTAATTGGTTCATGTTCA GATTCTCCTAGTGTTCAAAATGTCTTTAATAACTGTTGTGGCCAAAGGAG AACCAGGATCCAAAATTCATATATTGCCTTTGATTATTGTATTTATTTAT TCTTGTATTCTAAGACGGTCTTCCCACCTTTTTACTTTTCCATGAAGTTG ACATTTTAAAGATATCAGATCTCTCGTTTTATAGAATATCCCACACTCTA GACTTGTCTGCTTGTTTCCTTTGGGGCTTGTTTAACTTGTCCCTCTATCC GTTGCATTTCTGGAAACTGAAAGTTGGGTCTAAAGGCTTAATTAGATTCA GATTAAACTGGCTCTTTTTTGGCGATAATACTCCATAGGGATGATACATG TTGCATTACGTCAGGAAGGACATACATGCCAGGTGGCTCCTATGTTAGGA ATTACAAGTTTAATTACTTGGTTAAGGTAGTCTCCATTATAAGGGCACCT TTATCCCTTTGGAATTAGCAAGTACTATATGAGGTGACACTTGGACATCA TGCGGATAACTTGTTTCCAGTAACTTTTTGTCTAGATCAGTGGTTATCCT TGTCTGGATTGTTTATTTTAGGGGGAATTATAAAGGATGACTTCTTCATT GGTTATGCCTTTTATATTTGTTTGATGAGATTAATCCAGAGTTGGGGGTT AAGACCCCAAGGCAAGGAATTGAGGAAGATGAATGTTTGTCAAAGGCTGG TCTTAGTTTTATGGACTTCAAGCTTATTTGGTTTTATGGGTTCTCCTTAG GAAAAAAGTACAAAATTGCAGAAAAAAGTAAAAATTTTAAATGAGAAAGG GAAAGACAGTTCATAAAATTTTAAGACCTGACAAATATTATAAACATTAT TAAATCCATACAAATAATATAATATTAATTCCCTGACACACCTCTGTAAT ATTTTCCCCGACAGGTTTTGCTGCATGCTTTCTGATCTCTTTTTCATATG AAAATAACCTGGCAATAGTATTTCCGTAGAGAGAACATCATGGTGGCTCA AAATTAGTTTTCTATTATTAAGAGTTTAGAAGAGCTTTCTTCACAGCTCA TCATGTAAATTTTTAGAATCACTGTCCAACTTTGGAAAGCCTCTATCAAT GTTTTTTTTACAGGCAAGCTGTAAAATTTCAGTACTTTTCAAGTTTTTGT GAAGTGATCAATATCAAATGTTTTTTGAATTGAATCAAATGTTGTCATTG ACCTTTAGTGGCAAAGTGCAGGTTTTAGTTTTCTTCATTGATCTACTTTG TTCTTAAATCAGCAAGTAATTTAAGTACTTAATTAATGTTCTTATGATGC AGTCCTCTTTATTCATTGCCAGAAAGCCAAAGTCCTACTGATTATTTGTT TACACTTTCTGATGTGATTTGCATATAATTTTGTTTGAGAATTATAAACA CAGGAATTCTGATAAAGTTAGTTTGCAGGATTCTCCAAAAAGGAAAGGAA CATGGTACATTTATAATTGCATATACTGCATTATCATATATGTTCCTGAT GTGGGAGAGCCTCTAATTTCAGTTTTGACTATATGAATGAGAAGTGAGTC CTCTTCTTACAGTTTTACATGCTTGGTGTTTGGAAGATTTTTCCAGACAC TGGTCCTGATTCCAGCATGATGACTTTACTGCAAGTGCTAGCTGCCACAG GACACTTGAGAGTGCTGTGGGACCGCTGCTCTTGCATATCCTGTTATCAT CCTGGTTACAAATGCACAGTGGGCATTAAGAGTATTTCTGGAAGCCATTT TTGCACTGTAAAGACTGGCAGTGACTCAGCTATGCACAGAAATGACCACA AACCACATAAATATACCATGCTGAACCCAAACCAAATGTATCCTCAACTC AACGTCCCTTTAGCTGAATCCCAAAAATGCCTGGGGCTACTCCAGTGACA ACTGATATGGGAGGAAGTGTGACAGAGGGGGAGTTAGAGTGGAAAGAGAC AGCAGTTTTAGTAGGTTGTGGTTAAGATATCTCACTTTCACAAGTATAAA AGAAATATGACCATGTGAACATGTTGCTGGGACCCCTCCCAGAGCTCTGA ATGAGCCCAGGCAAGTGAGGGACCTGATGCCTCATAAGCTTCTTGGCAAA GCTGCATGTTTCTGTTGAGAGGGGGTTGGTGCAGTGATGACTCTGGGGAA GGGAAAGTAATGGAGCTGAAGAGCCTTGTAGACTGCAGGATAATGGAGGA ATTAAGAGATAGGAGGTTTTGTCAAGTTTGAAAACGGAGAAAGCTGTGAG AATAGAAATTGGTAGTCAGAGGAGAGGATGCTGGAGTTGGTTTTGCTGGT GACATGGCCCTGAGAATGTCTATGATGGTATGAAATTGAGACATGGAGGA AGAAAAGGTCCTGGTAGTCAAGGAGTTGTTCAAGGGGTTGTGAGTTTAAG GTGTGGGTGGGTCTGTTTTCACACTGCTATAAAGAATATCTGAGACTGGG TGATTTATAAACCAAAGAAGTTTAATTGACTCACAGTTCCCCATGGCTGA GGAGGCCTCAGGAAACTTACAGTCATGGCAGAAGGTGGAGGTGATTCAAG GTCGTCCTACATGGTGGCAGGTGTAAGAGAGAGCACAGGGGAAGTACCAG ACACTTATCAAACAACCAGATCTCATGAGAACTCACTATCATGAGACCAG CATGGGAGAAACTGCACCCATGTTCCACTCACCTCCTACCAGGACCCCCC TTGACACATGAGGAGTATATTCAGATTATGATTCAAGATGAGATTTGGGT GGGGACACAGAGCCAAATCATATCAGGAAGATTATCTGCATGGACAGTGC CATTACCTAGGAGGACTGTAGGAGGTAGGGTTGGGGGACAAAGAATGTGA GGCTACTCTGGTGTTCTCTATGGATGTCAGGAAATGGTATTGGAGGCAGA TAGTAGACAGCATCTTTATTAGTTTCTTATTGTTGCTGTAACAAAGTACC ACAAACCTGGGGGCTTACAATAACACAAATTCCTTCTACAGTTGGTGTTG TCAGGGTGGAGTTCCCTCTAGACTCTAGAGCAGTTTGTAGGGGAGAAACT ATTACCTTACTCCTTCCAGCTCCTGGTGGCTGCTGCCATTCCTTAGCTTG GGGCTGCATCACTCCATCTCTGTGTCCAGGGTCATGTGGCCTTCTCCTTT TTCTATCTGTGTTAAATATCCCTCGTCTCTTTCTTATCAGGACACTTGTG ATTGCATTTAGGAGTCACCCTGGTAATCCTGGATGATCTCTGTACCTCAA GATCCTTAATCACACTTGCTAAATCCTTGCCATATATGGTTACATTCATC AGTTCCAGGGATTTGGATGTAGATGTCTTTTGGGGAACCATTATTCAGCC TACTACAGCATAAACAAAAAATAGAAAGTGATGGAAATTCAAACTCAGAA TGCCAATCCCATGTGTCTCAGCCTGTGCGTGTGCGCCTCTCTTCCCTCTC CCTGGCATGCCTTTTATTGTCTCCTTGTGAATTCCTGGTTATTCAAAACC CAAATCACATAGTATCTATTGTATGCTACTTCCCCTGATTCCTCCAGGCA GTGTTAATTACTTCTTTGTCTTTGCTTCTGTAGTGTTTGTAGATTTATCT ACCGTAAGCCCTTCCTCCATCATAATTAATCTGTGTT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	264	0.0038	-3836	c.566 others(17): Show c.566+3936_566+7771del		RHBDD1	ENSG00000144468.17	transcript	ENST00000392062.7	protein_coding	5/8				INFO_REALIGN_3_PRIME	chr2	TogoVar
METTL16_chr17_2411049_2516888	2495681	AAAGACTC others(3816): Show AAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGATTATTTCAACC CTCATAGGTGAGTCTGACGGGCTCAAGACTTCAGCATGGGAAGTAACTGC AGATGTGCTGAAAATAGCAAGAGAACTAGAATTAAAAGTGAAGACCGGCC GGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA GGCGGGTCACTTGAGGTCAGCAGTTTGAGATCAGCCTGGCCAACATGGCA AAACCTTGTCTCTACTAAAAAATACAAAAATTATTTGGGCGTGGCAGTGC ACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGT ACCTGGGAGCTGGAGGTTGCAGTGACCTGAGACCACACCACTGCACTCCA GCAGCCAGGGTGACAGAGCGACTCTGTCTCAAAACACACATGCACACACA CACACACAAAACAAAACAAAAAAAAAGAAAAAACATCCTACACAAATAGT ATTTTTATCTAATTGTGTTCAAGGCATTCATGGATCCTCTCAAAGTCCCT AAGTTCACTCTTCTCTGTATATTTCTGTCTACTTAGTTAGAAATATTTAA AAAAAAGTTCCAAATTACGTCAAACAGTGTTTTTTAGAGATGGGTCTCAC CTTGTCGCTCAGGCTGGAGTGCAGTGGTGTAATCATAAGTTCACTGCAGC CTTGAACTCCTGGGATCAAATGATCCCCCCACCTCAGCCTCCCAAGTAGC TGGGATTACAGACGTGCACCACTATACCCTGTCAAACATGTTTTTAAAAA TTTCTATACTTTTCAAAATGCTAAGTCTTCATCTTCACTGAAAGTTATTT ATCCACATAATTTTCCATTTTGATGCTTTTTGCCTTCTTTTCTACTTTAT TTGATTTAGGGGGAACTCTCATTTACCTACTTATTTTTGCGCATCCCTTT ACTTTCATTTCTCTGTAATTCCGTTTTAGGTATGTGCTATGATCTGAATG TGTCCCCCAGAATTCCTTTGTTGGAAACCTAATCCCCAATGCCAACAGTG TTAGGAGGTGGGACCTAGTGGGAGAGGTTTAGGTCACGAGGGCTTTGCCC TTATGAATGGATTAATGCTGCTGTTTAAAAAAAAGCTTGCAGAAGTGGGT TTGCCCCCTTCCACCTTCCACCCTGTGAGGATGCAGCAAAAGGGCCCTTA ACCAGATGCCAGGGCCTTGCTCTTGGACTTCCCAGCCCCCAGACTATGAG AAATAAATTTCTGTTCTTCATAAATTACCAGTCTCATGCCACTTATGTAT GGCATATCGTTTTGTTGTTGTTGTTTTTCTTTTTTATTTTCTTGAGGCAG ACTCTTGCTCTGTTGCCCAGGTTGCACTGCAGTGGCACAATCTCGGCTCA CTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGATCACAAGTGCGCACCATCACGCCTGGCTTATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCTCGAACT CCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGTTTA CAGGCGTGCGCCACTGCACCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTT GAGATAGGATCTCACTCTGTCGCCCAGGCTGGAGTGTAGTGGCACAATCT CAGCTCACTGCAACCTCTACCTCTCAAGCTCAAGCGATTCTCGTGCCTCA GCCTTCTGAGTAGCTGAGATTACAGGCATATGCCACCACGCCCGGCTCAT TTTTGTACTTTTAGCAGAGAAGGGGTCTCTCCATGTTGCCCAGGATGATC TCAAACTTCTGAGCTCAAGCCATTCGCTGGCCTCTCAAAGTGCTGGGAAT ATAGGCATGAGCCACTATGCCCGGCCTGGCATATCATTTAATAGAGAAAT TATTCTCATGCAGTCAACAAATATTAACTCAATGTTTGTGACTTGCCAGG TACCTTTAGATATGTTGTAAAAACACATCTGTTAGGTCTGCTTCAGACTG ACAGGTTTTTTTTGGAAACAAGGTCTTGCTCTGTTGCCTAGGCTGGAGTG CAGTGGCGCGATCATGGTTCACTGCAGCCTTGACCCCCTGGGCTCAAGCA GTCCTCCTGCCTCAGCCTCTGAAAGTGCTGTGACTGCAGGTATGAGGCAC TGCGCTTGGCCTTTTAAAAAATATACCTCTTAGGCCCGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGG TCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCATCTCTACT AAAAATACAAAAAATTAGCAGGGCGTGGTGGCGGGCACCTGTAGTCCCAG CTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGC TTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGT AAGACTCCATCTCAAAAAAAAAAGAGATCGAGACCATCCTGCCCATCATA GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGGCATGGTGGC ATGTGCCTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCTCTT GAACCCGGGAGGCAGAGCTTGCGGTGAGCCGAGACAGCGCCACTGCACTC CAGCCTGGTGACAGAGCAAGACTCTGTCTCCAAACAATGCAAAACAAAAC AAAAATCTTAAAAATCCTAACCATCAGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGTACTTTGGGAGGTTGAGGTGGGCAGATCACTTGAAGTCAGG AGTTCTGAGACCAGCCTGGCCAACATGTTGAAACTCCGTCTTTACTAAAA ATACAAAAATTAGATGGCCGTGGTGGTGCGAGCCTGTAATCCCAGCTACT CAGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCGGAGGTTGCA GTGAACCAAGATGACATTACTGCACTCCAGCCTGGGCAACAGAGCAAGAC TGTGTCTCAGAAAATAATATAAAACTTTAGTGGATGAGGATGGGGATGGG CAAGGCACAAGAATCCTCCATACCACGCCCTTAAGAAAAATTTCAAACTC CTCAGTGGGCCTTATAAAGCACCACAAAGTATAACCATCCCCAGCCCACC TCCTCCTGTCTCTTGTCCACTGCACCCCAGCCACGCTTCACTTCTTCAGT TCCCCTCTGCCCAGTATTCTTTGCACATGCTGCTGCCTCTGCCTGGAATA CTCTTCTTTCTACCTGGCTCACTCCACTCATTCCTTAAAACACAACCAAG AGACCATTTCGGTTTCAAATCATTCTCTAAATCCCAAAGTCAGGGTACGG TCTCCTTTTCATGTGATCCCACTGCACATCCCCCGGATTCTCCCATACTA AAAGGTTAACGGCTTATGTATTTGTCCATTTTCCCCACTAGTGTATAAAC TAGCGTGTGACTGTGGCAGTGACATCTTTCTTGTTTTTTAAGGCTTTCCT AGAACTGAGCACAATGTGGCTAATCAATAGGTTTTTGTTAAATAGCTGAT TAAGTACAATAGTAAGTATAGAGAGGAAACAAACAATGACAAAACTATAT CTTTTTTTTTTTTTTTTTTTTAATTACAGGATTTCGCTATGTTGCCCAGG CTGGATTCAGACTCCTGGACTCAAGATCCTCTCACCTCAGCCTCTCATGT AGCTGGGACTACAGATGCACAGTGTTGCACCCCACTAAAATGGTATCTTT CCTAAAGCTACTAGGATCAACATC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG02559.hp1 others(3): Show HG01070.hp1 HG01243.hp2 HG02559.hp1 HG02559.hp2 HG02922.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 others(2): Show a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0072 a0001c0007t0018	a0001c0001t0008g0021 a0001c0001t0023g0019 a0001c0001t0023g0022 others(3): Show a0001c0001t0008g0021 a0001c0001t0023g0019 a0001c0001t0023g0022 a0001c0001t0024g0020 a0001c0001t0072g0018 a0001c0007t0018g0023	6	298	0.0201	-3823	c.128 others(17): Show c.128+2700_128+6522del		METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	2/9					chr17	TogoVar
SHISA5_chr3_48462876_48509174	48492350	GTCCCAGC others(3815): Show GTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGGGCCACTGCAGTCCCGCCTGGGTG AAAGAGCGAGACTCCGTCTCATAAGAAAAAAAAGAGGTAATTAGGTTTAG ATGAGATCATGAGGGTGAAGCTGCCAGGATGGGATTAGTGTCCTTATAAA AAGAGGAAGAGAAATTCGATTTCTCTCTGCATGCATGCACCAATGTTCGG AGGTGAGCAGGTCTGTACAAGCCTTCGCCCAAGGAAGCTGAGAAGCTGAA GAAAGAGGCTGACAAATCCAGTTTCTCAGAAACATTTAATAGGGACTTCT TAACCTCAGATCCTGGGCTTATAAACCACAGGGAATTGGTCTAAGGGCAG GATTTATGGTAAGTATGTGAAAGGCATTAGAGGCATTCCCAGAACTGGGG TTAATCAGAAGTCAACATGGGCAGATTAGCATCCAAGATGGAGTTGTTTT CAGCCTCCACAAACAGGGAAAGGCCACGTGAGGACATAACCAGGAAGAAG GCCCTCACCAGGATCATGCCAGCACCCTGATCTTAAACCTCCTGCCTCTA GGACTGTGAGAAATGTTTGTTGTTTAAGCCACACAATCTACAGTATTTCC TAAAAGCAGTCTGAATGGACTAAAACACATGAAACTTTCCTCATGTTTCA CTAAGGATATGCTGGGCCATAAAATGTACTGAAATCTTGAAAACGGCACA ATGGGGTATTACAACACAACCACCAAAATTGCTAAAATTAAACTTTCGGC TGGGTGCAGTGGCTTACACCTGTAATCCTAGCACTTTGGGAGGCCAAGGT GGGCTGATCACTTGAGCCCAGGAGGTCAGGACCAGCCTGGGCAACATAGT AAGACCCCTTCTCTACAAAAATAAACAAAAATTAGCCATGCACCATGGCG CATGCCTGTAATCCCAGCTGCTCGGTAGGCTGAGGTCAGAGGATGGCTTG AGCCCAGGAGGTAGAGGCTGCAGTGAGCTGAGACTGTGCCGCTGCAGTGA GCTGAGACTGTGCCACTGCACTACAGCCTGGGTGACAGAGTGAGACCCTA TCTTGGAAAATAAATGAATAAATTAATAAATTAAATAAATAAATAAATTC CTTAGAAATGGCCATGATCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACAGAGGCGGCTCTGTCATCCCGGCTGAAGTGCAGTGGCACAATCTC GGCTCACTGCAACCTCTGCCCACCGGGTTCAAGCGATTCTCCCTGCCTCA GCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACACCCGGCTAAT TTTTCTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGCCCAGACTGGT CTTGAACTCCTGACCTCATGTGATCCACCCGCCTCAGCCTCCCAAAGTGC TGGGATTACAGGCATCAGCCACTGCACCCATCCGATTTCTTTTTTAACTG ACAAAAATTGTATATATTTATAGCGTACAAAAATGATGTTTTGAAATATG TATATATTGAATGGCTAAATTGAGGTAATTAGCATATGCATTACTTCACG TACTTACCTTTTTTTGTGGTGAGAACACTCAAAATCTACTTCCTTAGCAA TTTTCAAGTATACAACATATTATTATAAACTATAGTCACCATTATGATGT ACAATAGATCTCTTGAACTTACTCCTCCTAAGTGAAATTTTGTGTCCTTT GACCAACATCTCCCTAATCCTGCCACCTCCTAGTCTCCGGTTACCACCAT TTTATTCTGTTTCTATGAGTTTGACTTTGACACTCCACATATAAGTGAGA TGGTGCTGTATTTGTCTTTCTGCGCCTAGCTTATTTCACTTAACATAATG TTCTCCAGGTACATCCATGTCATCATAAATGACAGGATTTCTGGATTTCC TTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTTGCCAGGCTAGAG TGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCAAG GGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGTGCACC ACCACCAGCTAATTTTTGTATTTTTAGTAGAAACGTGGTTTCACCATGTT GGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCCCCCTTGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAATTTC CTTCTTTTTAAGGCTGAATAGTATTTCGCTGTGTACATATACCACATTTT CTTTATCCATTTATCCTGATGGACAGGTAGATTGATTGCATACTTTGGCT ATTGTGATAATGCTGCAATGAACAAGGGAGAGCAGGTATCTCTTTGGGGT ATGGATTTCATATCCTTTGGATATATACGCAGTGATGGGATGGCTGGATC ATATGCACATGGTAGCTCTATTTTTAATTTTTGGGGGACCCTCCTACTTT TTTCCATGACAATGATTTATATCTGGTCTAGCATGTTGTATACATGAAAT GTATACATCTGTTAAAACTCATCAAACTGAAACATGAAAGATCTGTGCAT TTTACTGTATGTAATTATATATCTATTTTTTTTTCTTTTTAGAGACTGAG TCTTGCTATGTTGCCCAGGCTAGCCTCCAACTCCTGGGCTCAAGCGATCC TCCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTCCA CCTAGCCTATATCTCAATATTTTGAAAAAGATTTATAATCCAAGTTTTGA AGAGGATGTAGAGCAAACTGGAACCCTCACATATGGCTGGTGGGAGTACA AATGGCACATTTATAACATGTTGGAAAGCTGTTTGGAAGTTATCTGCCTA AACTGAACACATTCACATAATAACTTAGTAATTCCACTCCTAGATACATA CCCAGAAAAAATATGTTCCTTTTACGACGCTTTTTTTTTTTTTTTAATAG AGAGGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGAAGTGGCTCAAAAAA AAAAAAAAATTGATTGCTTGTTCAGTGGGTGGGGAGAAACTCCCATACAT TTGGTCACAGAAATCTTGTGTTGATTGTTCTGGTGTGAGAGAATAGAAGA AGCACTCTGAGTTTTTTTTTCCACTTTTTTCGGGGGCAGGGATGGAGTCT CTCTCTCTGTTGCCCAGGCTAGAGTACAGTGACACAATATCAGCTCACTG CAACCTCCGCCTCCTGGGTTCAAGCCATTCTCATGCCTCACCCTCCCAAG TGGCTAAGACTACAGGTGCATGCCACCACGCCTGGCTAATTTTTGTATTT TTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGCCTGATCTCGAACTCC AGACCTCGTGATCTGCCCACCTCAGCCTTCCAAAGTGTTGGGATTACAGG CGTGAGCCACCACACCCAAACAGTTTTCCACATTTATGTATCAATAAACA ATTAGAAAATAAAAATTGTGGCCGGGTGCAGTGGCTCACACCTGTAATCC CAGAACTTTGGGAGGCCAAGGAGGGCAGATCACTTGAGGTCAGGAGTTCA AGAGCAGACTAACCAACATGGTAAAACCCCATCTCAACTAAAAATACAAA AATTAGGCCGGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCAGGCGGATCACAAGGTCAGGCGTTCGAGACCAGCCTGGCCAA CATGGTGAAACCCCATCTCTGCTAAAAAAAAAAAATGCAAAGATTAGCTG GGCATGGAGGCGTTCCCCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG01169.hp2 others(27): Show HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072	30	290	0.1035	-3822	c.233 others(17): Show c.233+4965_233+8786del		SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5					chr3	TogoVar
RHBDD1_chr2_226831054_227004210	226875114	TCTTTAGG others(3814): Show TCTTTAGGGGCTGTTTCTTGTTTACCTTTGTATCTTAACCATCTGCCTGA CACAAAGTAGGCAATTAGTAAATATTTGTTGTTGGATGGACATAAGATAA GGAGCATCAGTTGTTTTCATGGTTGCTGTTTGGCTTGAAATGGCTTGCTA GATTGCTTTATGAACTGTCTCAGGTATTTTTACTTTATTCTTTCCATTGT AAGGTGGACTGATATCTCATTGTTTTAGAACTTGGTATCTCACTCAAATG TAAGGAGGTAGTAATCTTGAACAATTCTGAATTAAATCTTTAGTAAAAGA GAATGTTTATTCCCTCATGTGCCTGTGCTTTTGAGATCCTTGTTAAATGT TGACCTAAATCAATACACTATTTCCGTACCCATCGAGACTTCACAGTTTA GCAAAAGAAACACTAACTACCCCCCAAACCAGAACAGAAGGTGGGAATGT TAGTTCAATAAAAATAGAGGAACAGAAAAGGAAAGTAACTCTGATTTGAG AAATTAGGAGGCGCTGCAGAGGACAGGGCTATGTATGTTGAGTGTTTGGA AATAATAGGGCAGATGATGAGATAGACTGCTCTTTGTTTTGAAAGGGGAA GAGAAAGAACAAATATAGGAAGCTTGGCAAATTTATGAAATCACAATCTA TCCATAAATGCTGGGAGATAAAGCTAGTGGTGTTCCTTCAAATGTGTTCT TTTGACCACTAGTTCCTTGAGATGTATCCTGAAACAGGGCTTCCTGGTCA GTAGACTTCAGCTCATGTGGTGTTCTGTGTTCCTGCAAGGGCACAGTGCA CATGAACATGTGAAGGATTCTGAAAACATTGCAGGATGGAAATCGGATTT GCCAATTAGTTTCCTAAGTTTACTTGACAATAGCACCCTTTTGTTTTAGC ACTGGCATGCAGCAATGTACAGAACAAATGTTCTTCATGGTGCATTTTAT AAACTCCAAGTTGGGAAGAGGCCAAACCATAGAGAAGAGGCCAAATCATA GAGGGCTTTGGATGGCAGGTTAATAAATTTAGGCCATGCTTGTAGTCAGA ATGGACACACGGCTTTGGTTTCTGAGAAGGAAAAGCCATGAATGAATATG TGGTTTAGGACAGGAGGCCAGGAATAGTATAAAGATTTGCAGAATTGGTG GCAGGTGTCCATTTACACTGTTGACATAGACAAGAGAAGAAACTGAAGGC TAGAACTAGTGCAGTGACTGAGAGAATCGAAAAGAGCAGCCTCACGGGAG AGCAGTTTCCAAGGCCCAGTGACAGTTCATGGGCCGTATAGGAATGACTG GTGTATTGGGAACTTCCTACATGCCAAAAACCATTTAAGCTCTTTACGTA TATTATCACATATCATCCTTATACCTACTTTGTGAAGAAGTAATTATTAC TTCTACCACTTAAGAGATGAAGAAACTGAAGCACAGAAAGTTAACTTATT GTAGCTACTTAAATATCAGCTAGTCCATTGGATAGCCAGTGTTTAAGTTT CTGCAATCAGGCCCCTAAATTCATACTCTGAACTAGTGGTTCTCAAACTT TTGATCATAAAACCCATTTAGACTCTTGAAAATTATTGAGGACCTCAAAG AGTTTTGGTTTATGTGGGTTATAGCTATCAATATTTACCATATTGGAAAT TAAAACTAAGAATTAAAAAAAATTAATATAATTCATTAACATTCATAACA TAATTTATCAATAATTCATTTTAAATATCAGTAAGCACAATATGTGTTCA CATAGATAAGTTTATGAAAAATTAATGTAGTTTTCAAACAAAATGAGATG AATGGCAATTTTTTTGCAAAACTTTTAATGTTTGGCTTAATTAAAAAAAT CTGATTCCCATATTTGCTTCTGTGTTAACTCCTAGAGCTATATCATTTTG ATTGAAGGTCAGTTTGGCCTCATACAGGTATGTACTTGGGAAGGGTAAGA GGGATTGTTTTAGTAGCTTTTTCAGGTAATCGTGGATATCCCTCTTTGCA CTACTAATTTGGCATGTGGTGGTTGCTTAAGATTAGTTCCAAGGTGGAAC CTGAAACCATATCAGTGAACCTGACCACGTTCTGTAACATTAAAATCTGT TGATCTGTCTTGAAGTTTGAATAGATCTTTTCCCTATATATGATTTTCTA ATATTATGCATTGATTATTTGGAAATATTGGTTTACTGATTATGTAGACT TTGTAAATATTGACTTAATTATACAGTATCAAAGTATCACATTTATTTAT GTCACCACCAATCTCATCAGAAAACTCTTTAAGTATTGGGAAGCTGTCAA GCTCACAGTGCCACATAGAAGTTTTCCAAAATTCTAATTTTCACTCCAAT GCTCAGATCTTATCATTGACAACAAATTCATTAGTTGTTTTCCTTAAAGG CTTGCTTTATTTTTTTAGAAAATGTGAGCCATTTTCCTTTTTTTTTTTTT TTTTTTTAACCATAGTTCATTAGTTTTTCTTTTAAGTAAACATGGCAGGG GAAAGTGGGGAGGGCCCATGAAAACAACGGCTCATTCATCTCACAGCTCA AACCCATAAGTGCTTTTCTTTTTCCACAAGCATCTTTCTTTGCTATACAG CTGAAGTGCTTTGTGTGTATTTCACATTTCATCACACGGTGTATTAAAAA GATGTGGACTAATCTTGGTGTTTAATAAAATTAGGAATTTTACCGCTTTG TCAAAGATATTCCTAAACACCATGAATATGTGTCTGTGAAGAGTGCAGTG ACTATTGGTATTGTTTGGGGCCACTGCCTTGATTCACTTGACTCATGCTA AGGCATCAGCAGTTGTCTTCTTGCTTTTGTGCCATTAGTGTAAATGTCAA CATGGTTTTTCTTAAAAAAAAGGGCAGATCATGTCTTAATGTTGCTGTGA AAATAGTTTTGACTTTGTGAACCTCTGGAAGGGTCTTAGGGGCTTCTAGT GATTCATAGAGCACATTTTGAGAATTGCTGCTTTAAACTCTGATGCTACC TCTCTAGTCACGGGAAGACTGCTTAGCTTGTATGAAAGGAAAGATGGTTA TTTGCAACCTGGGAGCTTCCAAGGGAGCTTCATGTAGTTAGGGATGGGAG GGAGAGGGAAGCAGTAGAATATGTACAATTATATACAATCACTGAAATTG CTGGTTAAGAACTGTGGACTTGAACTGTTAACTCTTTGTAGAAAGGAGAA TGGCTAATAGCAATTTAGAAGATAACTGTAACAATAGCTTCAGTCCCACG TGTTCTTTTCAAAGTTTCCCACTCAGCCATTAAGAGGTGGAGTCCAGTTC ACCTCTCTGCTAGCTGGGTGGATTTGTGACTTGCTGTAACCAATAGAATC CAGTGTTAAGTATCACATTGCTTCTGAAACAAGCAGTTTCTTGCCTTGTG AGTTGAAATGCTTGTCTCTGGAGCCCATGTCAAAAGCATACAGCTTTCCC GATGTCACCAGGCTGTGAGGAAGAGGCCCAACCATCAGTGGCATCAGAGC CAGACATGTGAGTGTGTGGCCTTTGATAGAGCCACAAAGTTACCTCCAGT TTTCTCTGCTGAGGCTGCTGACATTATGGAGCAGAGACCGACCACCCCGT GTGCTCCTTCTGAATTCCTGACCCACAGAATCTGTGACTCCAAGAAAACG TTTCTTTGGTCCCACTAGATTTGGGGAGACTTGTTCTGTAGAAGTGGTAA TGGCAACCATGAGTTGAATGAATATAGGAAAAGTAGAATGAAAAGTGTGC AAAGGACAGTGTTGAGTCGGGGAGAGTAGAGTGAAAAGAAGGGAGTGAAA GAGTCTTGGGGACAGATCCATA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	264	0.0038	-3821	c.566 others(18): Show c.566+7799_566+11619del		RHBDD1	ENSG00000144468.17	transcript	ENST00000392062.7	protein_coding	5/8				INFO_REALIGN_3_PRIME	chr2	TogoVar
MYCT1_chr6_152692897_152729569	152708836	ACCTGAAA others(3811): Show ACCTGAAAGAGTATTTATTTTTTTATTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAG AGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCC ACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTT TACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATG AACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCA CATTTTCTTAATCCAGTCTACCATTGTTGGACATTTGGGTTGGTTCCAAG TCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCT TTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAACGGGAT GGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACA CTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAA AGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTT TTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTT TGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGT TTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTT CGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGA GTTCATTGTAGATTCTGGATATTAGCACTTTGTCAGATGAGTAGGTTGCG AAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTC TTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTT TGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAAGTCCTTGCCC ACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTAT GGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAATTGATTTTTG TATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGC CAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTT GTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTA TTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTAC CAGTACCATGCTGTTTTGGTTACTGTAACCTTGTAGTATAGTTTGAAGTC AGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGG CAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCC AATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCT GTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTA CCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTCTTTTATTTCC TTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGT AAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGA GTTCACCCGTGATTTGGCTCTCTGTTTGTCTGTTGTTGGTGTATAAGAAT GCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAGTT GCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTTTTCTAGAT AAACAATCATGTCGTCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCT AATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAAC TTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCATCCCTGTCTTG TGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATA TTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAAATACGTCCC ATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTT TGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCT TTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGAA CCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCT TTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGAGGATTTTT GCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTTTTTTGGTTGT GTCTCTGCCTGGCTTTGGTATCAGAATGATGCTGGCCTCATAAAATGAGT TAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAAT GGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCATC TGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATTGCCACAATTT CAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGT CTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTTCTAGATTTTC TAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATGGTAGTTTGTA TTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGTGTCT ATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTATC AATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTGATTTTTT GAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGTT ATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAG TTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTC TCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAAT GCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAAA GAACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCA GGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTGAGTGAGATTC TTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGATAGTTTGT TATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAACTA TGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAAAAATGTATAT TCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTTG GTGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTCAATTCCTGGGAAC TCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCG GCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACT CCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCCG TCTTCTGCGTCGCTCACCCTGGGAGCTGTAGACCGGAGCTGTTCCTATTC GGCCATCTTGGCTCCTCCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(365): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0006 a0002c0002 others(6): Show a0001c0001 a0001c0006 a0002c0002 a0002c0008 a0003c0003 a0004c0004 a0006c0005 a0007c0010 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0006t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0033 a0002c0002t0034 a0002c0002t0036 a0002c0008t0004 a0003c0003t0001 a0003c0003t0014 a0003c0003t0019 a0004c0004t0001 a0006c0005t0001 a0007c0010t0013 a0008c0009t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 others(153): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0077 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0113 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0004g0115 a0001c0001t0004g0142 a0001c0001t0004g0152 a0001c0001t0005g0006 a0001c0001t0005g0057 a0001c0001t0005g0059 a0001c0001t0006g0004 a0001c0001t0006g0048 a0001c0001t0006g0051 a0001c0001t0006g0158 a0001c0001t0007g0033 a0001c0001t0007g0063 a0001c0001t0007g0073 a0001c0001t0007g0114 a0001c0001t0008g0009 a0001c0001t0008g0116 a0001c0001t0009g0001 a0001c0001t0009g0018 a0001c0001t0009g0034 a0001c0001t0009g0036 a0001c0001t0012g0042 a0001c0001t0012g0138 a0001c0001t0013g0002 a0001c0001t0014g0121 a0001c0001t0016g0031 a0001c0001t0017g0166 a0001c0001t0020g0026 a0001c0001t0021g0009 a0001c0001t0022g0168 a0001c0001t0023g0167 a0001c0001t0024g0137 a0001c0001t0025g0141 a0001c0001t0027g0084 a0001c0001t0029g0003 a0001c0001t0030g0058 a0001c0001t0031g0001 a0001c0001t0032g0003 a0001c0006t0003g0001 a0002c0002t0003g0054 a0002c0002t0004g0005 a0002c0002t0004g0012 a0002c0002t0004g0022 a0002c0002t0004g0029 a0002c0002t0004g0053 a0002c0002t0004g0169 a0002c0002t0004g0171 a0002c0002t0004g0173 a0002c0002t0004g0175 a0002c0002t0004g0178 a0002c0002t0004g0179 a0002c0002t0004g0181 a0002c0002t0004g0183 a0002c0002t0009g0174 a0002c0002t0010g0005 a0002c0002t0010g0170 a0002c0002t0010g0172 a0002c0002t0010g0176 a0002c0002t0011g0052 a0002c0002t0011g0177 a0002c0002t0033g0180 a0002c0002t0034g0182 a0002c0002t0036g0005 a0002c0008t0004g0012 a0003c0003t0001g0004 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0048 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0127 a0003c0003t0001g0145 a0003c0003t0001g0147 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0161 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0014g0010 a0003c0003t0019g0004 a0004c0004t0001g0002 a0006c0005t0001g0002 a0007c0010t0013g0079 a0008c0009t0002g0003	368	444	0.8288	-3818	c.196 others(18): Show c.196+10758_197-9069del		MYCT1	ENSG00000120279.7	transcript	ENST00000367245.6	protein_coding	1/1				INFO_REALIGN_3_PRIME	chr6	TogoVar
USP17L7_chr8_12127417_12139099	12135283	ATAGCATA others(3809): Show ATAGCATAACCTTTTTAATGCTGGCCCTTGTTTCACAGGGAAAAGGCAAA AATGCAAAAATAAGCCGTGTGTCTCCTGGATTCTCTCATCGATTGTTCAT GGTCTGAGATGTTCCCTCCATTTCCAGTTATGCATTGTATGGTGGAATTG CAGTTAGTACATTTGGTGCAAAAATTGTAATGCTGACGAAAGTGGACATG TTCCCTGAACTAAGAGGGACAGCATTTGGGTGTGTCTTCAGGCTCTCTGG CTTACCAGGAATGAAGATCCTGGCTCTAGGGATTTTCCCAAAATGTCTTA GACAGTAAGGAACAGGGCAGAATTGAGGCCCGGCGCCAAGGCCTCTGGGT GTAAAGAAACAGCCCTGGCTTCAAGGGCTCATGAAATTCGGATGATTTTA AGGAGGATGATGGAATGAGAGGACTGTGACCTTTGGCCCCGTTTCTTTCC CTTGTCTTTTCATGGGCCAGGTGTGCTCCATCAGAAGGCTTCGTGCGCCT GATGTAAAGTGTCCTGGGGGAAGAAAGGAGCACTGCTTAGAAAGATGCTC CACAGGGAGAAAGAAGCCACCATTTTCAGGAGAATGATCCCCAGAAGCAT GAGCAATGCAGATGTCGTGGCTTCACACAAGACGTCGGAGGGTCTTATTC CTGCAGCCGGGACCTGGGCATCGGTGTGCTTTCATGTTCCTAACTGATTT TGAGGGGAGCCCAATCGATAACCTGTCTGCGAGTCATGCTCATCACACTG TAGTTTTCACACACGTCACACGGAGACCCTGTTCGTATGCACATTTGGGT GCTTGAGCAGGGTTGCGCCCAAGATTCTGTGGTTCTACGGAGCCCTGAGT GGTGCCCTGGGCAGCTTTCCTCTGGGGTTGGTCAACTTTGATCACTGCAC CTAACGAGAAAGGGACCATGAAATCTAATCAGCAAATACAGACAAGCAAG GGGCCATTTCCCACAATCATTTCCACGGAAACACCACGTCGGATACGTAA GTCTGATTGCAGGACAGGGACTGTGCTTCAGAGATGCAGCTTTCGCAGCT GGACGAATGACCCGGAATCTCCCCAAATGCCATTTGTAAGCACACCAAAT GAGGTTTATTTCAGGGCTTTCTGAATTTATTTCAGTTGAATACACACACT CCTGTGTTTGATTTCCTTTATTATCAATACGACTTATTTCCAAATGACTG ACATGCCAGTGGGAAAATTTTCCATTTCGACTCATTGGAATTGGACATCG TGAAACAGGCAAGTCGGTCTGTCTGTTTCCGGCGTTATGTGGGTTCCAGC AAGAGCACAAGTCCCAGGGCGCCTGAGGTCCATTCAGAAACCAATGTAAA AACGGTGAGCCAGGGTAAGAAAGAAGAGCACCGTTCCTATCTTCTAAATG CATTCCAGTTTCCACTATTCAAGGTGGCGAGAATGATCCATGGATGTGCC ACATGAGCAAAATTTCACCTTCTCGTGCCGCCCAACAACTGACGAATGAA ACACACCCCAAGAGAAAATAGGAAACCGAGTCCCCTGCAATAACCTCACA CTCAAACCTACACGTCAGTAGGTCATATTCAGAAATACACAGTGAATGTC ATCTACCATGAACACAAACACACAGACAGTCTCTCCAGAGGTTCGGAAGA CTCACGACCCCAAAACTTGATGTTTCCCATGTGTGGGCTCATCCTGAGAT GCAGCCATCACTATCCAGTTGTCCCTGTTGTAGAGACAGAAACTTGGACT CCTCATTACTTTATGTAGGATTGACGGTGTTCGTGTTTGTGTGTGTGTGT GTGTTTGCGTGCGCGCTTGTGGGTGTATTTGTGCGTGTGTGTGTGTGCGT TCACCCCTACGTGTGGGTCGGCACTTCCACTGAGATCACTGGCACACAAG CAGAGCCCTCTTGCTGTGTTTGTTCTTCCCTTTGGATCTCCTGGTCCTCC CTTGCAGAGAAGCGAGGGTGCCAGTGTTCACGGACTCCTGATCTGTCCGG GTCGTCGAAGAGAGGTTTAGCAGGGAGCTTTGCTGTTCAGGATGATGGTT TTTCATCCCACACTTGTATTTCGATTGATGAATCACAAGTACGTTGGGAG GCAGGGTACCTTCGACTTTTCTGACGTTGAACTCAGGCTTCGTTTTGTTT TGCTCTTGGGGGAATTTCCAGTGGTCTAAGGTGCTTTCCTGAGTGGCTCT TTCCACCAAGCGCTCGTCCAACTCGGGTGCCTGGAGGCAGGGGTGGTCTC TCTTGAGCTCTCCTTGCGTTGCTCGCCTGTCTGTGTCTTCAGCGCCGAGG GCTCTTGGTTCCCTGCCTCTTGACACACTCTCACTGTGTCTTTCCCATTC ACTCTTCTGGATGTAAAAGAGGACATAGGCCTGTTGACTCAGGACAGAAG TGATGCTACAGGCAGTGACCTTGGCATCATCCATTTTATACCACTGGCCT TCTTGAGCTTTGACATAAGAGAAGTAATGTCCGTCGTGACAACTCCACCC AGCGTGGACCAGCACAGCATAGAGGACATAGACAAGAGGTCCTGTGTTCT GCTGAGACATGTATGGCTGCATGTCAAGGCACTCAGGATATTGCACATTC TTGGCAAGTTTGTTGCCTGTGACATCGGAGAATCTCTTCAAGACAAGGAT GAGGACCTTGGCAGAAGTGTGTAAAGTTAACGTCTTGGAGGCCGGCGCCC TCTGGAGACAAAGACCGCAATGATAGGCATTCTCTCCATTGAGTTCTTCG GGCTTCACCAACTGTTCCAAAGCTTGCTTGACACTCTGAGCTGCCTGGAT ATCCAGGGCGATGTCCAGGTAAGGGTCAAAAGTGTCTGAAATCCCGTGGC AGTGGAGACACTTGATTTGAGATCTCCAGCAGCCTCCAAATATTTGGTGG ATGAGGGTGGTGTCCTTAGAGTGATGATCTACCTGCTTGTGGCCGGGAAG GCATGCCTTTTTCATGGCATCCACAGTGAACATGAGAAATTCATGGGCAT CTTCCTGCTTGCCTCTATGGAAGCCAGCAGCCAATGCCTGTGAGGGCTGG ATGACATGACCAGGACTGTGGAGGGCCCATGTGATGTGAGCTTGCATAGT ACAGAGCATGCAGCACTTGGGACGCTGACATGTTTGAGAGTGCTCCCGGG ACAGCATGTAGTTGGCAAGGGGCGGTGTGTATGTCAGGCACTGCAGGGAA GCGTTCTCGTAGCAGGTATTTCCCATATTCTGGAGCCCAGCCCCCACCGC AGCAGGTCTCCTGCTACTCAGAGGAAGCTTCTTCCTGGGAGCAAGCTGTC TTGCCACAGGAGCCAAATCATCACAGAGGTCGACACGGGCCTCAGATGAG AGTGGTGACTTCTCAGGGAGAGAAGTCCGCTGGATTTCAGCAAAAGCTGC ATCTGGCCGAGAAGATGTGAGTTTTGAAAAGTGGTTGAACTGCCACTCAC CTCCCAAGTAGAGTGAGTCGTCCTCCATGTCGCCCGCAACAAGGATCACA AGGTTTTTCTGCTGGGACTGCAGGTTGCAGCAAGACGCTATCTCTTCCAA GAGAGTCTTCAAATGACGAGCTCTCTGGCCGCATCAGCCCTTATATAACT CACCCCCACCAACCGCGAACACCCCACCCACCCATCAGGTGTGCGATAAA CCAATCAAATATCAGCACTCAATTAAGGAATGAGTCACAGGGTGTGTCCC CTTGCATCGCTGGGAATTCAACAGACACAGCCCACATCATGACTTCTAGA ACACCTGAATCAAATTACTCCTCAGGGTGATAGGCACATATAATATGAGT GTAACCGGGTTGGGACA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02922.hp1 others(12): Show HG02109.hp1 HG02145.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp1 NA18747.hp2 NA18966.hp2	a0005 a0011 a0021 a0005 a0011 a0021	a0005c0005 a0011c0016 a0011c0030 others(1): Show a0005c0005 a0011c0016 a0011c0030 a0021c0017	a0005c0005t0001 a0011c0016t0001 a0011c0030t0001 others(1): Show a0005c0005t0001 a0011c0016t0001 a0011c0030t0001 a0021c0017t0001	a0005c0005t0001g0000 a0011c0016t0001g0000 a0011c0030t0001g0000 others(1): Show a0005c0005t0001g0000 a0011c0016t0001g0000 a0011c0030t0001g0000 a0021c0017t0001g0000	15	194	0.0773	-3816	c.-50 others(11): Show c.-5090_-1275del		USP17L7	ENSG00000226430.7	transcript	ENST00000530447.5	protein_coding				1185		chr8	TogoVar
HBA1_chr16_171680_182522	173679	CTGGTCTT others(3805): Show CTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGT TCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGA CCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGG AGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAAC CATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCT GGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCC ACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCA TCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTG CAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGA GGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTC ACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCT GGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGC ACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTC AGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCA GGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTC TGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAA GTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACT TCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGT ACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCT TCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCAC CACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGA AACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGG GAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAA ATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTC CGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAG TGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAAC TCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTT CAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGA GAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTC TCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGG CCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCT GACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAAT GACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCA AAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCAC CTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAG CTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCAC AGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCC CTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCA GGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTC CAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGT GTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGC CGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCA AGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCA CGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGA CTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCG GGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTT TGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAG TGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCA GGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTC CGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCT CGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGT CCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGC TAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGT GCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGC TACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGT GGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGG CCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCG GTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCC GGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGG CACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCT CCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCA CGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCT GCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACC GTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAG GATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACC TGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGAC GCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTC CGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACT TCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGC GCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCA GGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGC ACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCG CCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCT GTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGC CATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGC ACCCGTACCCCCG	C C	exon_loss_variant exon_loss_variant	HIGH	NA19065.hp2 NA19065.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0004 a0000c0000t0004	a0000c0000t0004g0000 a0000c0000t0004g0000	1	398	0.0025	-3812	c.-30 others(9): Show c.-3037_*80del		HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding	1/3					chr16	TogoVar
HBA2_chr16_167876_178710	173679	CTGGTCTT others(3805): Show CTGGTCTTTGAATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGT TCTCTCTATCCCGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGA CCAAGGACCTCTCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGG AGTATGGGAGGGGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAAC CATCCCCTGTCCTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCT GGGGAGGAGAGAGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCC ACCCTCCTTTGAAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCA TCAAAACAAAACGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTG CAAGTGCAGGTGCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGA GGGTAGGTGGCTGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTC ACGGTGACCCTCTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCT GGGATGCTCACAGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGC ACCTTGCGGCCTTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTC AGAACTCACTGTGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCA GGGCCTCTGGGACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTC TGGAAACGTCCCTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAA GTTGCACAGCCCATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACT TCCAACCCAGTCCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGT ACTGGATTGAGCTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCT TCTGGACATGGACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCAC CACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGA AACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGG GAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAA ATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTC CGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAG TGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAAC TCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTT CAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGA GAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTC TCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGG CCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCT GACCTGATGCACTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAAT GACTTATCAGTGATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCA AAAAACATCACTTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCAC CTCCCACCCTTCCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAG CTGGCCAGCCTCATCACCCCAACATCTCCCCACCTCCATTCTCCAACCAC AGGGCCCTTGTCTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCC CTCCTCCACCTCCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCA GGAAGCCCTCAGACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTC CAGACTTCCTCAGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGT GTGATGGTTAGAGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGC CGGTTCCAGCTATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCA AGTCTTCCATCAGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCA CGACCTCTAGGCCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGA CTTGGGGCTTAGCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCG GGTAGAGGAGTCTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTT TGCGTCCTGGTGTTTATTCCTTCCCGGTGCCTGTCACTCAAGCACACTAG TGACTATCGCCAGAGGGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCA GGAGGGGCTCTGCGCAGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTC CGGGTGCGCGCATTCCTCTCCGCCCCAGGATTGGGCGAAGCCTCCCGGCT CGCACTCGCTCGCCCGTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGT CCAGCGCGTGCCAGGCCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGC TAGGGACGCTCCGGCGCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGT GCACGAGCCGACAGCGCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGC TACCGCCCTGCCCCCGGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGT GGAGGGTGGAGACGTCCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGG CCGAGCCCGCCGCCCGGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCG GTCCAGGCCGCGCCCCGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCC GGGCGTGCCCCCGCGCCCCAAGCATAAACCCTGGCGCGCTCGCGGCCCGG CACTCTTCTGGTCCCCACAGACTCAGAGAGAACCCACCATGGTGCTGTCT CCTGCCGACAAGACCAACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCA CGCTGGCGAGTATGGTGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCT GCTCCGACCCGGGCTCCTCGCCCGCCCGGACCCACAGGCCACCCTCAACC GTCCTGGCCCCGGACCCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAG GATGTTCCTGTCCTTCCCCACCACCAAGACCTACTTCCCGCACTTCGACC TGAGCCACGGCTCTGCCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGAC GCGCTGACCAACGCCGTGGCGCACGTGGACGACATGCCCAACGCGCTGTC CGCCCTGAGCGACCTGCACGCGCACAAGCTTCGGGTGGACCCGGTCAACT TCAAGGTGAGCGGCGGGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGC GCCTTCCTCGCAGGGCAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCA GGCGGCGGCTGCGGGCCTGGGCCCTCGGCCCCACTGACCCTCTTCTCTGC ACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCCGCCCACCTCCCCG CCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAAGTTCCTGGCTTCT GTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTGGAGCCTCGGTGGC CATGCTTCTTGCCCCTTGGGCCTCCCCCCAGCCCCTCCTCCCCTTCCTGC ACCCGTACCCCCG	C C	splice_region_variant splice_region_variant	LOW	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	386	0.0026	-3812	c.80 others(9): Show c.80_*3891del		HBA2	ENSG00000188536.13	transcript	ENST00000251595.11	protein_coding	3/3					chr16	TogoVar
OR6J1_chr14_22625929_22649352	22625963	AACAATAA others(3805): Show AACAATAAGATACTATTTTTTACATGCAGGTTGACAAAAATTTTAAAGAT TGACAATAGCTAGTAATGGCAAAAAGTGAAGAAGTTGGATTTTTTATACA ATGTTGGTGGGAGAGGAAATTGTTTCCACATTTTTGGAGGCAACTTGGCA GAATTTATCAAAATAATTACTGAAATTTAAAATGGTCCTACACTATTAGC CATAAGTCCTAATAGCAGGAATTTATGCCAAAAAAATTTAGCACCAGTAA CAAAATAGAAGAAATGTGTGTTCATTGGTTATAAATGTGACATCTAAAAA TGAATTATGGAATTTTATGGGTACTGTAAGCCAAAAATAAAATTCTAAGC ACCCCGAACCAACTAAATGGGCCCCTCCTCTCGACCAAGGGCATTCTAAA GTAAACTTGAAACACTAGTTCAGGCCATGATGAGAATGGGTGGTCAGACA TGCCTCCTTAAACCTTCCTCCCTTTGGAATTCAGGCACAGCTGACCAGCA TTAACATTAAAACAGTCTTATACCTTAAGACAGGCAGCACAGATTCTTGG TAGCAATAAGATAACAATATGCAGACCAAGATAGCAGGCCCTGAAAGAAA CCGAGTATTTTGCTCCAAAATATATTGCTTTGACATATTTTGAAATGGCC CTGCAAAGCTGTCTCTTTAAGTCTGATGTTCTCTCTGAAGCCTGCTACCT GAAGACTTCATCTGCATAATAAGAACCTCAGTCTCCACAACCCATCTGAA CCCAGACACTCCCTTTTATTAATTCCGGGGCTTTAGATAAACTCTCGGCC AATTGCTAATCAGAAAATCTTTGAATTCACCTTTGACACGGAAGCCCTTC TTCGTCCCCACCCTCCTCAATGCCTCCACCCTCAACCGCCTCCCTGCTTT GAGTTGTCCCGCCTTTCCAGATCAAACCAAGGCACATCTTACATGTACTG GTTGATGTCTTATGTCTCCCTAAAATGTATAAAAACAAGCTGTAGCCTGA CCACCTTGGGCATATGTCATCAGGATCTCCTGGGGCTGTGTCACAGGCCG TGGTCACTCACATTTGGCTCAGAATAAATCTCTTCAATTATTCTACAGTT TGACTCTTTCTGTTGACAGTATTGACATGGGAAGATTTTAAAAATCAAGT TGCAGACAATTCATATAACGCTTTCTTTTTTGTAAAACAAAAGTTATATG TGTGAATATGAATGAATATATACATATATAGTATAAGCATCCTAGGCTGG GCAAGGTGGCTCACACCTATAATCCCAGCTACTCAGGAGGCTGAGACAGG AGAATTACTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCAAGATCATGC CACTGCACTCCAGCCTGGGCGACCGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAATATATATATATATATATATATATATGTTTAACTAAC AATGTTGACTGCTACAGAATGGAATTGGCTGGCAGGACTTTTCATGTTTT ACTTTATACACTTCTGTACTGGCTAAAATTTTACAGTGAATGTGGATTTT CATAATTAAAAATATTAAAAACAAAAAAGTTTTCCAAAATTGATTCTAAC TTTGGTTTACACCTGTGATGTCAGTTTCGGGAATGAGGCCCCTCAGACAG GAATCAGGTCTGCTCACCTTGTTTTGTAGGGATCCTGAACAAACATACGC CAAAATTGGCAAAGCAGGCGGACGCAAAGAGCATTGGCAGAATGTCTCCC GCCCCTCCTCCAAGCCTCAGGGCTGCGTAATGGCAAGTGCAAATTCAAAA TAAGTGGCTTGTTTTTCTCTGCTGAAAATAAAGGAAGAAACTTCTCCCTC TTCCCTTTCCTTACACATTTACCTCAAAAAATATATGAGTTCTTTCTCTG TCTCTTTGAACTATAAATAAAACTTTTTAAATGTTAACTAATCCTCTGAA CAGCATTACAACCCAGGAATGTCTTTCTTAAGGACCTGGGAAATATCTCT TTGAAATCATCAAGGAAGATAGCACCTGTATGTCCCAGTCCTGGTGGGAG GGGAGGAACCTCTTGCTCCTAAACTACCTCCTGTTATAAAGATATGTAAA GTTTATTTTTCCTTGTCATAAAGCCAATTAGATAGAACAGATGATTCACC CCAATTACCAAGTGAACTGAGGACAAACTGTGTGTGACAAGTGGGGTTGT CAAGTCCTTTTACTTGAGGACTAGTTGTTGTTTATCTAGAGAAAATGTAT GGAATTAATTTTATTAATATGTCTTTATAAAAGGGTGAAATTTCTTTCCG TCTTTGCAATCTTTTTAGAAAATTGCCTGTGATGAGCATTATATTCTGGT TTAATGCTTATTCAATAATAAAACTGTTTTATTTGTTTTCTTTTTTTATT ATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACCTTTGTGGGGCA GTTTTCTGGGCTGGGAATAGATTTTGTTTTTAATTCTATTTCCCAACAGC TACAGAGTGTCAGACCCCCTTGTACACCTTCAGAAGCCAAGGCCACCCCC GGCCCCCTAGGTTCTGCCAGCTGCATCCTGGAGAAACTCTCTGGAGCTAC TGGGAGAGTAAATGGAGGCCACAGGCAGATGCAGGCTGTGGATGCCACAG ATATATTAAAGAATAAAAATCATGTCATAGACTAGAGAGGTCTGTGACAC TTTGACATGCTCCCCCAATCCCCAGACTTTCTGGGACTGGACCACTGGCC ATCTCTAAGGCTCTGTTTTCTAAGGAGTTTACAGCAGAAGCTACCTCCCA CTTGGTCTTGGAACTAGAATGAGTGTAGAATTGGGAGCAAGTACAGACAG CTAAGGCAAAGTGTGCAAGCAGATGAACTTTTCCCTCATGCCCCTTTCCC TGTATCTGAACCCATTACCCTTTCCTGATGCTCACTGCCCCTCAGGGGGT CCTCCTAGTGCCTGCAGGCTTCTTCCTCCTTTCTAAGGGGCTGGACTGCT TTATTTAGTGGGAATACTCCAACCCAAATCCAAGCTAAAATTTACATTTT CAAAAAGGACTTTTGATAACTGCACATATTTTCACTTTATTTAGTAAATA CTTACTGAGCATATCTGGTATGTGAAACACTGATGTAGGTTTCTGGGAGA AAGGGTAGGAGACCCCCAAATTAATATCAACCAATCTTCTGCACTGAAGG GGATTTGCTATTTCTTGGGGAAGATGTTACAGGTAGTCAGGCATGAGTGG GGCAGGAGAGGGCTATCCTCCACCAACTAGGAATGTCAGGTGATGGTTCA GGATTTGTCACATTGCCTCTCTAAAAGTGATAAATTGGCAGCCAGGGAGA CGCCATTATCCTGAGGGTCCACACCTGTTGCACTGAAGTGTTAATTGAAT ACAGATGCCAGGAAGAAGCATCTTTTTGGGCATGCATATTAAGAGACAAA ATGGCGGAGTATGACCTTCCAGGGGCACTCCACCGGAAAAGGGAAGAAAG CCTCAGTTGGGCGTGGGTACAACTTCCTAAACACAATGTGTGTGCTCACT TCCCAAGGGTAAGGGGGGCACTGCACGTGCAGGCAGCACACCCTAAGGGA AGAATCATGGGAAAGGGGCCAGCCTATAGAGTCCTAGGATCAAGGTTAAA CACTGCACTTTACCTCGGTGCCCACTTGGATCTCTTCCAAGCATACTTTC CTTTCTTTGCTGTTCTAAAGCCTTTTTAAATAAACTTCCACCCCTGCTCT GAAACTTCCCATGGTCTCTTTTTCCATCTTATGCCCCTCAGTCAAATTCT TTCTTCTGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01884.hp1 HG02280.hp2 others(8): Show HG01358.hp1 HG01884.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02723.hp1 HG02976.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0014 a0002c0002t0062 a0002c0002t0007 a0002c0002t0014 a0002c0002t0062	a0002c0002t0007g0326 a0002c0002t0007g0330 a0002c0002t0007g0334 others(8): Show a0002c0002t0007g0326 a0002c0002t0007g0330 a0002c0002t0007g0334 a0002c0002t0007g0336 a0002c0002t0007g0339 a0002c0002t0007g0344 a0002c0002t0014g0270 a0002c0002t0014g0272 a0002c0002t0014g0276 a0002c0002t0014g0280 a0002c0002t0062g0354	11	362	0.0304	-3812	c.39 others(11): Show c.3993_*7804del		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding				4965		chr14	TogoVar
MEFV_chr16_3237027_3261633	3257548	GACCAGCC others(3799): Show GACCAGCCTGGCCAACACAGTAAAACCCCATCTCTACTAAAAATACAAAA ATTAGCCAGGCATGGTGGCACGCACCTGTACTCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCACTTGAACATGGGAGGCAGATGTTGCAGTGAGCCG AGGTTGCGCCATTGTACTCCAGCTTGGGCGACAGAGCGGGACTTTGTCTC AAAAAAAATAAATAAATGAAAAATTACATGTAGGGTGAACTGACTCCTCA CTTACCTACTTCTGACCGTTGCATACCCTAATTTTTTTATTTTTAGATAG GGTCTTGCTCAGTCACTCAGGCTGGAGTGCAGTAGTGGGATCTTGGCTCA CTGCAACTTCTGCCTCCTGGGCTTGAGCAACCCTCCAACCTCAGCCTCCC AAGTAGCTGAGACTACAGGTGCATTCCACCACATCTGGCCAATTTTTGTA TTTTTTATAGAGACAGGGTCTCACTATGTTGCGCAGGCTGGTCTTGAACT CCTGATCTCAAGCGATCCACTCGCTTTGGCCTCCCAAAGTGCTGGGATTA CAGGTGTGAGCCACTGCGCCCGGCCAGAAGTTTTGTTAATAATGCAATTT ACCCTTCACCAGCACTTCCTCGGCACCAGCCACCACTAGCTTTATAAACA CTTCCTCCTAGAATCTCTGCAGCACCCTGCAGGGCTGCGTTTATCATCCC CCTGTGCAGCCAAGAATCTGTAGCTTAGTGACTTGCCTAGAGCCAAGATC CAAACGTCAAACCACTTCACAACATCGTCTCCTGCATGACAATAATTTGT GATTTTACTGTTAATGACTACCCATGGATGTCACATTTCCAGCTGACCAC TGAGGTCCAGGATGGGTCACTTCCACAGGTCAGTCACAACATTGCGACGC CTAGCTGAACACCCAGCTCTGGGTGTGAGCTCCTCTGTGTGTGCCCAGCC TGGGATTCAAGGCTTTGATGAGTTCTGGTTGGTTGAATTTAACTTACTGT CCAGCTGGTCCACCTGTTTCCTATTTCACAGAGTATTTGGTGTTTTTGCA TTGTTTTCATAGCTGACAACAAACATGCAGTTTGCTAGATCTTTCTGAGC CCAAACCCAACATCTTCCCTAAAAAAAGGGTGAATTGGGCTGGGTGTAGT GGCTCACACCTGCAATCCCAGCCCTTGGGAGGCTGAGACAGGAGGATTAC TTAAGCCCAAGAGTTTGAGATTAGCCTGGGCAACATAAGGAGACCCTGCC TCTACAAAAAATAGAAAAAATATTAGCTGGGTGTGGTGGCACACACTGGT GGTCCCTGCTGCTACTCAGGAGGCTGAGGTGGGAAGATTGCTTGAGCCTA GGTTCAGGCTGCAATGAGCTGTGATTGCACCACTGCTCTCCAGCCTGGGT GACACAGCAAGACACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGTGGATGAAATGCACATTGATGGTGCAGACAGCAGATTTTTGGAATTT TTAGGCTGGGCCAGAAGAAGGGTGTTGAATGGGGTATCACTGGGGCCAGC ACCCGTCCCTGACTCTGGACGGTGGCAACCCAGCACCTCCCAGGCAGTCT CCCACTACCAGATGGAGAAAGGATGAGACTGTGCAGTGACGCTGTGGGTG CTGTGTGATCCCATCTCGTCTGGTCAGAAAACTCCTCGGAGCTGATACCA AAACCCCATGACAGAATTGGGCAGGGAATGATACTTTCTGGTCTAAAGCA GGATATTTTGCAATTGCGGTGACACGTTTTGCAACAGAGGCTGCTCTGAG GCAGGACTTCTGGAAGGCAGTGTTTTGATGCCACTTTGGACTTTCTAGGG CAAGGCAGGCTCACAAAGCTTTTGTTTGGAGGGGTTCCAGTAATTTCTCA CAGTGAAAATAGAATTATTGCCCTTCTAACGTCATTTAAGTGTTTAATAA TCAAAGTGGAATGGTCATGGGCTGTCTTGTGTGCCCCTGCCATTGGATGT GTGACCTTATTTGGGGTGACATGGCAAATCTAAACCCAACAAAGCTGCTG CAAAGGGTCTACTCTCGGCTATTACTCCTGGGAAATGTGCGGCTCAGACA CCACGACCTTCACTCCACTCCTGGTCACCAGGGGTTTCACTTTCTATGGC ATTTACTTCTGCACATTTTGGGATTTAAAAAAATGAAGATTGTATTACTT TCGTAATAAGCAAAAAAGATAGTTTTAAAAAGTCTTTCAGACCAGGTGTG GTGGCGCACGCCTGTAATTTCAACACTTTGGAAGGCCGAGACAGGTGGAT CACTTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGCAAAACCTC GTCTCTAATGAAAATACAAAAATTAGCCAGGTGAGGTGGCCCGCGCCTGT AATCCCAGGTACTCCGGAGGCTGAGGTAGAACTGCTTGAACCTGGGAGGT GGAGGTTTCAGTGAGTCGAGATTGCATCACTGCACTCCAGGTTGGGCAAC AGAGCAAGATTCCGTATTTAAAAAAAAAAAAAGTCTTTCACAATTAGCTT AACTTCTAAGGGAGTATCAGTCCCGTGCCCCTAAACCATCATGATAAAGG AGGTATATAGTATTTACTTATTTATTTACTTGATTTATTTTGAGACAGAG TCTCACTCTTATCACCTGGGCTGGAGTGCAGTGGCAAGATCATGGCCCAC TGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCTGCCTCCCG AGTAGCTGGCATTACAGGTGCCCGCCATTACACCCAGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACT CCTGACCTTGTGATTCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACA GGCGTGCGCCACCGTGACCAGCCAACTATTTTTTCATAGATGATGAAATG TAGGCTTACAGGTAGGGTGACCAACACATTTTGTCTAGGAGCAAAACCCA ATTTGCCCAGTCTTAGCACTGAAAGCCTAGTTCTGGGAACGACCACAGTC CGGGGAAATTGGGACAATTGCCCACCCTGTTTAGATGGGTTAATTGACAT ACTGAACACATGTCTAGCTAGGAAGAGGCACCACAGGGCCATTCATTTAC TCTTGGAGCACCTGCTGTATGCCAGATGCTATTCTAGGTACTACTGATAC AGAACTGAACAGAAAAAAACTTCTTGCAGTGCTCACATTCTTTTTTTTCT GATATAAATGCCCTTCAGAAGAGGCCACATTCTTTTTTTTTTTTCGAGAT GGAATTTCACTCAGTCGCCCAGGCTGGAGGGCAGTAGCGCAATCTCGCCA CTGCAACCTCTGCCTCCAGTGTTTGAGCGATCCTCCTGCCTCAGCGTCCC AAGTAGTTGGGATTATAGGTACCGACAACCACGCCTGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACT CCCGGCCTCAAGTGATTTACCCACCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCTGCTGCGCCTGGCTCAGAAGATCCCGCATTTTTTTTTTT TTGACGGAGTCTAGCTATATTGCCCAGGCTGGAGTGCAGTGGTGCTATCT CAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATCCTCCTGCCTCA GCCTCCCGAGTAGCTGGAACTACAGGCGCCTGCCACCACGCCCGGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02723.hp1 HG01981.hp1 HG02723.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0296 a0001c0018t0002g0297 a0001c0018t0002g0296 a0001c0018t0002g0297	2	428	0.0047	-3806	c.-47 others(10): Show c.-4767_-962del		MEFV	ENSG00000103313.14	transcript	ENST00000219596.6	protein_coding				916		chr16	TogoVar
SCLT1_chr4_128878993_129098539	129028983	TCTCACAC others(3799): Show TCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGT GCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGAC TGTAAAGTAGTTCAACCCTTGTGGAAGTAAGTGTGGCAATTCCTCAGGGA TCTAGAACTAGAAATACCATTTGACCCAGCCATTCCATTACTGGGTACAT ACCCAGAGGATTATAAATCATGCTGGTATAAAGACACACGCACATGTATG TTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATG TCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGG AATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGAGACA TGGATGAAGCTGGAAACCATCATTCTCAGCAAACTGTCTCAAGGACAAAA AACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAA CACATGGACACAGGAAGGGGACCATCACACACCAGGGCCTGTTGTGGGGT GGAGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGA CGAGTTAATGGGTGCAGCACACCAGCATGGCACATGTATACATACGTAAC CAATCTGCACATTGTGCACATGTACCCTAAAACTTAAAAGTATAATAATA ATAAACAAACAAAAAAAACCCCAAAAAGACAAAGAAGGGCATTACATAAT GGTAAATGGATCAATGCAACAGGAAGAGCTAACTACCCTAAATATATGTG TACCAAATACATGAGCAACCAGATTCATAAAACAAGTTCTTACAGACCTA CAAAGAGACTTAGGCTCCCATACAATACTAGTGGGAGACTTTAACATCCC ACTGTCAATATTAGATCAATAAAACAGAAAATTAACAAGGATATTCAAGA CTTGAACTCAGCTCTGGACCAAGCGGACCTAATAGACATCTACAGAACTC TACACCCCACATCAACAGAATATACATTATTCTCAGCACCACATACCATG TATTCTAAAATAGGCTACATAATTGGAAGTAGAAAACTCTTCCACAAATG AAAAAGAATGGAGTTCATAACAAACAGTCTCTCAGATCACAGTGCAATCA AATTAGAACTCGGGATTAAGAAACTCACTCAAAACTGCACAACTACATGG AAATTAAACAACCTGTTCCTGAATGACTACTGCGTAAATAACAAAACTGA GACAGAAATCAAGAAGTTCTTTGAAACCAATGAGAACAAAGACACAATGT ACCATAATCTCTGGGACACAGCTAAAGCAGTGTTAAGAGGGAAATTTATA GCACTAAATGCCCACATCAGAAAGTGGGAAAGATCTAAAATCAACACCCT AACATTACAATTAAAATAACTAGAGAAGCAAGAGCAAACAAATGGAAAAG CTAGCAGAAGACAATGAATAACTAAGATCAGAGCAGAACTGAAGGAGACA GAGACATGAAAAACTGCTCAAAAAATGAATGAATCCAGGAGCTGGTTTTT TCAAAATATTAACAATATAGACGGACCTCTAGCTCAACTAATAAAGAAGA AAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAATGGGGATATC ACCACTGATCCCACAGAAATAAAAACTACCATTAGAAAATACTCTAAATA TCTCTATGCAAATAAAATAGAAAATCTAGAAGTGGATACATTCCTGAACA CATACACCCTCCCAAGACTAAACCAGGAAGAAGTCGAATCCTTGAATAGA CCAAAAACAAGTTCTAAAATTGAGGCAGTACTTAATAGCCTACCAACTCA AACAAGCCCAGGACCAGACAGATTCACAGCCGAATTCTACATCAATATTC TGTTGATGTGGGGTGTAGAGGAGCTGGTAGCATTCCTTCTGAAACTATTC CAAACAATAGAGAAAGAGGGACTCCTCCCTAACTCATTTTATGAGGCCAG CATCGTCCTGATACCAAAACCAGACAGAAAACAAAATTTCAGGCCAATAT CCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTAGCAAACCGA ATCCAGCAGCACATCAAAAAGCTTATCCACCAAGATCAAGTCGCTTTCAT CCCTAGGATACAAGGCTGGTTCAACGTATGCAAATCAATAAATGAAATTC ATCACATAAACAGAACCAATGACAAAAACCACATGATTATCTCAATAGAT GCAGAAAAGGCCTTTGATAAAATTCAACATCCTTCATGCTAAAAACTCTC AATAAACTAGGTATTAATGGAGCATTTCTCAAATTAGTAAGAGGTATTTA TGACAAACCCATAGCCAGTATGATACTGAATGGGCAAAAGCTGAAAGCGT TCCCTTAGAAAACTGGCACATTACAAGGATGCCCTCTCTCACCACTCCTA TTAAACATAGTATTGGAAGCTCTGGCCAGGGCAATCAGGCAACAGAAAGA AAGAAAGGATATTCAAATAGGAAGAGAGGAAGTCAAATTGTGTCTGTTTG ACTGCAACATGATTGTATATTTAGAAAACCCCATCGTATCAGCCCAGAAA CTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACCAAATTAA TGTGCAAAATCAAAGGATTCCTATACAACAACAATAGACAAGCAGAGAGC CAAATCATGAGTGAACTCCCATTCACAATTGCTACAAAGAGAATAAAATA CGTAGGAATCCAACTTACAAGGGATATGAAGGACCTCTTCAAGGAGAACT ACAAACCACTGCTCAAGAGAGGACAGAAACAAATGGAAAAACATTCCATG CTCATGGATAGGAAGAATTAATATTGTGAAAATGGTCATATTGCCCAAAG TAATTTATAGATTCAATGTTATTCCCATCAAGCTACCATTGACTTTCTTC ACAGAATTAGAAAAAACACTTTAAATTTCATATGGAATCAAAAAAGAGCC CATATAGCCAAGACAATCCTAAGCAAAAAGAACAAAGCTGGAGACAATCC TAAGCAAAAAGAACAAAGCTAATCAAAAAGATCATGCCACCTGACTTCAA ACTATACTACAAGGCTACAGTAACCAAAACAGCATGTTACTGGTATCAAA TCAGATATATATAGACCAATGGAACAGAACAGAAAACTCAGAAATAACAC CACACATCTACAACCATCTGATCTTCAATAAACCTGGGAAAAACAAGCAA TGGGGAAAGGATTCCCTATTTAATTAATGGTGCCAGGAAAACTGGCTAGC CCTATGCAGTAAACTGAAACTGGACCCCTTCCTTACACCTTATACAAAAA TTAACTCAAAATAAATTAAAGACTTAAATGTAAAACCCAAAACCATAAAA ACCCTAGAAGAAAACCCAGGCAATACCATTCAGGACAAAGGCATGGGCAA AGACTTCATGACCAAAACACCAAAAGCAATTGCAACAAAAGCCAAAATTG ACAAATGGGATCGAATTAAATGAAAGAGCTTCTGCACAGCAAAATAAACT ATCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTTCAAG CTATCCATCTGACAAAGGTCTAATATCCACAATCTGCAAGGAACTTAAAC AAATTTACAAGAAAAAAAAACCCCATCAAAAAGTGGGTGAAGGATATGAA CAGACACTTCTCAAAAGAAGATATTTATACAGCCAACAAACATGAAAAAA AGCTCATGATCACTGGTCATTAGAGAAATGCGAATCAGAACTACAATGAG ATACCAC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04115.hp1 HG03669.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0028 a0001c0004t0001g0032	2	288	0.0069	-3806	c.290 others(18): Show c.290+6252_290+10057del		SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	5/20					chr4	TogoVar
YY1AP1_chr1_155654454_155693774	155689968	ATAGGGAA others(3799): Show ATAGGGAAGGTGCAGAGTATTGCCGTGTTGTCATTTACAGTTCTGTTGAT GTCGATAACGTTTGTGGGTGTAATGGGTAGTGTTCTGTCCCTCCAAGTCG TTAATAAAACAAAGCAGGCCGGGCGTCTTGTTAAATAGTTGTATCAATGA CTTGATTTAGATTAATGAGGATATATTTTTCAAATTTATGCCTTTTACAA AATTTTTAAAGAGTAGGTAATGTCGGTGATAGATATAAAGAAAGGAAAAG ATCTCCAGATGTGGAATCTTCTACTGGATCCTGTAACAGAAAGAAGACAT TAGGCTGGGCGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCG GAGGAGGGCGCATTGCTTGAGCCTAGGAGTTCGAGACCAGCTTAGGCAAC ACGGTGAAACCCCATCTCTACAAAAAGACACAAAAATTAGACAGGTGTGG CACACGCTTGTAGTCTGAGCTACTTGGGAGGCTGAAGCAGGAGGATTGAG GAAGAGGTTGCAAAGTTAGCCGAGATCACGCCATCACACTGCAGCCTAGG TGACAGAGCGAGACCCTGTCTCAAAAAAAGAAAGAAGACATTAGCAGAAA AGCTGAGGAAATGCAAATAAAGTCTGCAATTTTTAAATAGTATTGTACCA GCTTTAATTTCTTAATTTTGAAAATTGTACCATGGTCATATGTATGTAAC ATTAAGGAAACTCTAATGAAAATTGTAAGAAAGCACTTTGTACTACCTTT GCAACTCTTCTGTAAATTTACACTTTTTTTTGTTTGTTTGCTTTGAGATA GGATCTATGTCGCCAAGGCTGGAAGGCAGTAGTGCAGTCCTGGCTCACTG CAACCTCAAGCTCCTTGGCTCAAGGGATCCTCCCACCTCAGCCATCTGAG CAACTAGGACTACAGGCACATGCCACCACATCCAGCTAATTTATTTTATT TTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCGCGCCATTCTC CTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGTC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCC AGGCTGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTCCACTATCGA ACTTTAGAACATTTTTTATCACCCCCAAAAGAATCTTATCAGTAAGTTGC TTTCCATTCCTCCCTCCCATTGCCTCTCGCAACCACTAAATCAGTTTATG TAATTAATAAGCAAATTATGGACATTTCATGTAATTGAAATCATACTATA TGCAACTGTCTTCTTTTACTTTGTTTTGAAGGTTCATCCAGTTGTGTAAT GCATCAGAACTTTGTTTCGTATTGCCAAATAATATTCCATTATATGGCTA TACCACGTTATGTTTATTCATCAATTGATGGACATGTGAGGTATTTCCAC TTTTTGGCTCTTATGCATAATACTGCTACGAACATTTGTGTACAACTTTT GCATACACTTGTTTTTATTTCTCTTTTATACCTGAGAGTGGAATTGCAGG TTCATATGGTAACTCCATGTTTTACCTTTTGAGGAACTGCCAAACTTTTC CAAAGTGGCCTCACCGCTTAAAAAATCCTAACAGCAACATATAAGAATCC TAGTTTTTCCAGATTCTATCCAACACATGTTATTATCAGTTCTTTTGAAT TTCATCATTCTAGTGGGTGTGAAGTGTATCTCATTGTGGTTTTTATTTGC ATTTTCTTAATTTTGGGGGACCAGTCTCAGCACCACCCGTAGGGTATCCG AAGTCCGGTGGCGACAAAGGAATGAGAAGAGACAGGTTAAGTGTTCATAA AGGTGGGAGCCAGGGGGCCAGTTGCAAAATGGAGGCTGCAAAAGGCCCAG AGTTCTGATCTCCACACTGTTTATTGAGTACAGTCACTTAGATCTAAGAA GCAGATGTTCAGGGCGAAACAGTCAAAGGGAAGCAGTACGTCATACACAT AATCTGTAGCAGTGGCGGTTTAAGTGAATCTCCTTTGTGCTTAAACAACG TATCTTTAGTTAGCTGGTGGGAGTGGGCTTAACTAGGAGCCTGCATATCT AGCCACATTCCAGTGCTTCAGAGGAGCGTCTTTCTTCTTGAGCACAGTGT TTATAGATAAGAGAGCAGGTTGTGCTCAGAGCATGGGAACATAATGGCGA TAAGAAGGCTTTCCTCCTCAGAGTCCTCTTGTGGCTTTCCACAACTTACT GTCCCATGTTTTTATGGCCAGTTTATGCAGGCACCCTGTAAGCCTTTTTC CCAACATGCCCCCCTTTTTTCTTTTTTAAAACTGCCATTGCTATTAAGAC TTGTTCCTGGTGTCTGGTCTCTCTCCAGAGGCATCTTCCGCATCTGCAGA CTAAAAGCAAACAGCATAAACAGGTACACATTAAAGCAAAATTTGCGATA GTTGATTCTCTAACGGTCTTAATCCACTTAAGAGGATTTATGTTTGAAAG TCCATCAGCAGCTCCAGTGAGAATGTCAGTCCCAGGCAGGAGAGTTAAAT GAGCCTGAGATGCTTTAAAAACCTGTTCCTTTAATTTGGCTATATTCAGT GTAAAATTTCCATCCCTTTCTTCCAGATGATGTCTAACTTTTTCCCAGTG ATGTTCAGTAGCATTGTATGAATGGGGAGTTATGCAGAAATCAGAAGTAT TCCAATCACATTGCATTTGCAATCGATGCTCTAAGCTTATTATACGATCT CTCATCCAAATAACAGTCTGTCTAAGATCATTTATTTGATTTGCCAATTG TTGGTCTATCCGGGTCTGATAATTCCACAATTTTGAGGAATTCTTTTGCC AATTATTTACATATTCTGCAGTTTGAACAGAGGAGTGTAAAGCAATTCCA GCAGCCACAACAGTAGCTGTGACTGCAATAAGGCCCATAATGACTGCTAT AAGGGTAAAAATAAATCTTTTTGTTCTGGTAAACACTCCCTTTAACATTT CTGTGAGGATATGAATGGAAGAAGAGGCTTTCCAAGGTCTATTGAGGGAA ACCGGTATCTAAACTCCTCTAGCCCTCACCAGCAACACAGATGTTTTCAC ATCAAACGTGGAATCAATACAGGTGAAAAGGTGACAGTTTTGACAAGTAA TAGTTTGAGAATTAGGTCGAATATCAATATTTCCGACCATCAACATAAAA GGAGGCTTGACACAGCTCTGAATGGGCGCCATTCGGTTGGAAGAAAACTG ATACACAAATTGAAGTCTCTCACCTTTTCCCTCAAGGTAATATTTTTCTT CTCAAACCTGAATATGAGATTGGGCCATCATTACCTTCCATAATTTGGGA TGTTCAGGGCCTATTATTGGATTAATCATTTTTGGATGTGGGCCGGCTAT ACCAAAATTGGTTGAAATTATGGGAAACTGGGCATGTTTTTCAGTGTAAA TAGTGTCATCTCTTTGACAGTATAGTTCCTGTTTTAGTCCTGTCTTGTAT CTATCATTCTGATTGGTACAATTAACTGCAAAGGTCCCCTTAGGGGACCA ATCAGTGACAATTCCATAGGAATTATTTTGAAGTACCACAGCGTGATCAG AGATGCAATCCTGGCCGGGAGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCCGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAG TCTGGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01891.hp2 others(44): Show HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0013 others(4): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0003c0007 a0003c0010 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0013t0001 a0002c0003t0002 a0003c0007t0001 a0003c0010t0001 a0004c0005t0001	a0001c0001t0001g0025 a0001c0001t0001g0123 a0001c0001t0001g0146 others(33): Show a0001c0001t0001g0025 a0001c0001t0001g0123 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0003g0013 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0002t0001g0004 a0001c0002t0001g0024 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0005g0201 a0001c0002t0005g0202 a0001c0002t0005g0203 a0001c0013t0001g0204 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0125 a0002c0003t0002g0129 a0002c0003t0002g0130 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0138 a0003c0007t0001g0120 a0003c0007t0001g0122 a0003c0010t0001g0121 a0004c0005t0001g0021 a0004c0005t0001g0124	47	278	0.1691	-3806	c.-52 others(11): Show c.-5267_-1462del		YY1AP1	ENSG00000163374.20	transcript	ENST00000355499.9	protein_coding				1195		chr1	TogoVar
HBA1_chr16_171680_182522	172005	CAACCAGT others(3797): Show CAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCT GGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCA CACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCA CGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCC CAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGC CTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCA GGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAG TTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGA TTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATC CCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGC GGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGG GTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGG GCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGG GCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCC GCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCC CCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAG CCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACC CTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAG AACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCC TGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGA GAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGA CCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCT CACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGAC CTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCC ACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGAC GACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCT TCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCT GGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGG GTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGA CCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCC GCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAA GTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTG GAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTC CTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGG GCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACA ATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGG GGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGG CCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGG CCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTC TACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTG AACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAAC TAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTC TCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCT GGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAG TCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACA CCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTC TCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGA GCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCT GCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTG AAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGC CAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCA AGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGG AGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGT TGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGC CCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATC CGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACAT GTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGC CCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTT TAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTC CAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCC ACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGG GTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCT AAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCT TGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGG GCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGA TCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGT TTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGG ATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACC CCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATC TCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTC CCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACA TATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCA CCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAG GTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTC CCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACC TGTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-3804	c.-47 others(10): Show c.-4711_-908del		HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding				4674		chr16	TogoVar
HBA1_chr16_171680_182522	172240	GTTCCTTC others(3797): Show GTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAG GGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGC AGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTC CTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCC GTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGG CCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGC GCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGC GCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCC GGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGT CCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCC GGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCC CGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCG CCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCC CACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACC AACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGG TGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCT CCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGAC CCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTT CCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTG CCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCC GTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCT GCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCG GGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGG CAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGG CCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTG CTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCA CGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCA AATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCC TCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGA ATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCC CGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTC TCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGG GGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTC CTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAG AGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTG AAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAA CGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGT GCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGC TGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCT CTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCAC AGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCC TTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTG TGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGG ACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCC CTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCC CATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGT CCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAG CTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGG ACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTT CCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAA AAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGAC CACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCA GCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAG GCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGAT CACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAA AAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGG CAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAAC GGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGG CAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGG GCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCA CTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGT GATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCAC TTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTT CCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCT CATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGT CTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCT CCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCA GACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTC AGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAG AGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCT ATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATC AGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGG CCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTA GCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGT CTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGT GTTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01884.hp1 others(12): Show HG00642.hp2 HG00738.hp2 HG01884.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03654.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003	15	398	0.0377	-3804	c.-44 others(10): Show c.-4476_-673del		HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding				4439		chr16	TogoVar
HBA2_chr16_167876_178710	172005	CAACCAGT others(3797): Show CAACCAGTATTTACCTAGCAAGTCTTCCATCAGATAGCATTTGGAGAGCT GGGGGTGTCACAGTGAACCACGACCTCTAGGCCAGTGGGAGAGTCAGTCA CACAAACTGTGAGTCCATGACTTGGGGCTTAGCCAGCACCCACCACCCCA CGCGCCACCCCACAACCCCGGGTAGAGGAGTCTGAATCTGGAGCCGCCCC CAGCCCAGCCCCGTGCTTTTTGCGTCCTGGTGTTTGTTCCTTCCCGGTGC CTGTCACTCAAGCACACTAGTGACTATCGCCAGAGGGAAAGGGAGCTGCA GGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGCAGAAATTCTTTTGAG TTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTCCTCTCCGCCCCAGGA TTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCCGTGTGTTCCCCGATC CCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGGCCGGGGCGGGGGTGC GGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGCGCCCGAAAGGAAAGG GTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGCGCCCGACCCCAACGG GCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCCGGGCGAGCGGGATGG GCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGTCCTGGCCCCCGCCCC GCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCCGGCCCCGCGCAGGCC CCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCCCGGGCTCCGCGCCAG CCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCGCCCCAAGCATAAACC CTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCCCACAGACTCAGAGAG AACCCACCATGGTGCTGTCTCCTGCCGACAAGACCAACGTCAAGGCCGCC TGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGGTGCGGAGGCCCTGGA GAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCTCCTCGCCCGCCCGGA CCCACAGGCCACCCTCAACCGTCCTGGCCCCGGACCCAAACCCCACCCCT CACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTTCCCCACCACCAAGAC CTACTTCCCGCACTTCGACCTGAGCCACGGCTCTGCCCAGGTTAAGGGCC ACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGGAC GACATGCCCAACGCGCTGTCCGCCCTGAGCGACCTGCACGCGCACAAGCT TCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCGGGCCGGGAGCGATCT GGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGGCAGAGGATCACGCGG GTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGGCCTGGGCCGCACTGA CCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTGCTGGTGACCCTGGCC GCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCACGCCTCCCTGGACAA GTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCAAATACCGTTAAGCTG GAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCCTCCCAACGGGCCCTC CTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGAATAAAGTCTGAGTGG GCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCCCGGAATGTGCCAACA ATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTCTCTGCAGCTGCATGG GGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGGGGAAGCTGAGGTGGG CCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTCCTGAGAGGTGCCAGG CCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAGAGGCATCCAGGGTTC TACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTGAAATCTCCCTGGTTG AACCCAGTTAACATACGCTCTCCATCAAAACAAAACGAAACAAAACAAAC TAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGTGCCAGAACATTTCTC TCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGCTGGAGTGAGGGTGCT GGCCCTACTCACACTTCCTGTGTCACGGTGACCCTCTGAGAGCAGCCCAG TCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCACAGCCGGCAGCCCACA CCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCCTTACTCCTGCACGTC TCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTGTGTGCCCAGCCCTGA GCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGGACCTCCTGGTCTTCT GCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCCCTGTCCCCGGTGCTG AAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCCCATCTGGCTCTCAGC CAGCCTAGGAACATGAGCAGCACTTCCAACCCAGTCCCTGCCCCACAGCA AGCCTCCCCCTCCACACTCACAGTACTGGATTGAGCTTTGGGGAGGGTGG AGAGGACCCTGTCACTGCTTTCCTTCTGGACATGGACCTCTCTGAATTGT TGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGC CCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATC CGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACAT GTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGC CCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTT TAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTC CAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCC ACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGG GTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCT AAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCT TGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGG GCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCACTCCTCAAAGCAAGA TCTTCTGCCAGACCCCCAGGAAATGACTTATCAGTGATTTCTCAGGCTGT TTTCTCCTCAGTACCATCCCCCCAAAAAACATCACTTTTCATGCACAGGG ATGCACCCACTGGCACTCCTGCACCTCCCACCCTTCCCCAGAAGTCCACC CCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCTCATCACCCCAACATC TCCCCACCTCCATTCTCCAACCACAGGGCCCTTGTCTCCTCTGTCCTTTC CCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCTCCTCCACCTAATACA TATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCAGACTAACCCTGGTCA CCTTGAATGCCTCGTCCACACCTCCAGACTTCCTCAGGGCCTGTGATGAG GTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAGAGGACTGCCTACCTC CCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCTATTGCTTTGTTTACC TGTTT	C C	transcript_ablation transcript_ablation	HIGH	HG02683.hp1 HG02683.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	386	0.0026	-3804	c.-90 others(10): Show c.-907_*2209del	p.0? p.0?	HBA2	ENSG00000188536.13	transcript	ENST00000251595.11	protein_coding	2/3					chr16	TogoVar
HBA2_chr16_167876_178710	172240	GTTCCTTC others(3797): Show GTTCCTTCCCGGTGCCTGTCACTCAAGCACACTAGTGACTATCGCCAGAG GGAAAGGGAGCTGCAGGAAGCGAGGCTGGAGAGCAGGAGGGGCTCTGCGC AGAAATTCTTTTGAGTTCCTATGGGCCAGGGCGTCCGGGTGCGCGCATTC CTCTCCGCCCCAGGATTGGGCGAAGCCCTCCGGCTCGCACTCGCTCGCCC GTGTGTTCCCCGATCCCGCTGGAGTCGATGCGCGTCCAGCGCGTGCCAGG CCGGGGCGGGGGTGCGGGCTGACTTTCTCCCTCGCTAGGGACGCTCCGGC GCCCGAAAGGAAAGGGTGGCGCTGCGCTCCGGGGTGCACGAGCCGACAGC GCCCGACCCCAACGGGCCGGCCCCGCCAGCGCCGCTACCGCCCTGCCCCC GGGCGAGCGGGATGGGCGGGAGTGGAGTGGCGGGTGGAGGGTGGAGACGT CCTGGCCCCCGCCCCGCGTGCACCCCCAGGGGAGGCCGAGCCCGCCGCCC GGCCCCGCGCAGGCCCCGCCCGGGACTCCCCTGCGGTCCAGGCCGCGCCC CGGGCTCCGCGCCAGCCAATGAGCGCCGCCCGGCCGGGCGTGCCCCCGCG CCCCAAGCATAAACCCTGGCGCGCTCGCGGGCCGGCACTCTTCTGGTCCC CACAGACTCAGAGAGAACCCACCATGGTGCTGTCTCCTGCCGACAAGACC AACGTCAAGGCCGCCTGGGGTAAGGTCGGCGCGCACGCTGGCGAGTATGG TGCGGAGGCCCTGGAGAGGTGAGGCTCCCTCCCCTGCTCCGACCCGGGCT CCTCGCCCGCCCGGACCCACAGGCCACCCTCAACCGTCCTGGCCCCGGAC CCAAACCCCACCCCTCACTCTGCTTCTCCCCGCAGGATGTTCCTGTCCTT CCCCACCACCAAGACCTACTTCCCGCACTTCGACCTGAGCCACGGCTCTG CCCAGGTTAAGGGCCACGGCAAGAAGGTGGCCGACGCGCTGACCAACGCC GTGGCGCACGTGGACGACATGCCCAACGCGCTGTCCGCCCTGAGCGACCT GCACGCGCACAAGCTTCGGGTGGACCCGGTCAACTTCAAGGTGAGCGGCG GGCCGGGAGCGATCTGGGTCGAGGGGCGAGATGGCGCCTTCCTCTCAGGG CAGAGGATCACGCGGGTTGCGGGAGGTGTAGCGCAGGCGGCGGCTGCGGG CCTGGGCCGCACTGACCCTCTTCTCTGCACAGCTCCTAAGCCACTGCCTG CTGGTGACCCTGGCCGCCCACCTCCCCGCCGAGTTCACCCCTGCGGTGCA CGCCTCCCTGGACAAGTTCCTGGCTTCTGTGAGCACCGTGCTGACCTCCA AATACCGTTAAGCTGGAGCCTCGGTAGCCGTTCCTCCTGCCCGCTGGGCC TCCCAACGGGCCCTCCTCCCCTCCTTGCACCGGCCCTTCCTGGTCTTTGA ATAAAGTCTGAGTGGGCAGCAGCCTGTGTGTGCCTGGGTTCTCTCTATCC CGGAATGTGCCAACAATGGAGGTGTTTACCTGTCTCAGACCAAGGACCTC TCTGCAGCTGCATGGGGCTGGGGAGGGAGAACTGCAGGGAGTATGGGAGG GGAAGCTGAGGTGGGCCTGCTCAAGAGAAGGTGCTGAACCATCCCCTGTC CTGAGAGGTGCCAGGCCTGCAGGCAGTGGCTCAGAAGCTGGGGAGGAGAG AGGCATCCAGGGTTCTACTCAGGGAGTCCCAGCATCGCCACCCTCCTTTG AAATCTCCCTGGTTGAACCCAGTTAACATACGCTCTCCATCAAAACAAAA CGAAACAAAACAAACTAGCAAAATAGGCTGTCCCCAGTGCAAGTGCAGGT GCCAGAACATTTCTCTCATTCCCACCCCTTCCTGCCAGAGGGTAGGTGGC TGGAGTGAGGGTGCTGGCCCTACTCACACTTCCTGTGTCACGGTGACCCT CTGAGAGCAGCCCAGTCAGTGGGGAAGGAGGAAGGGGCTGGGATGCTCAC AGCCGGCAGCCCACACCTGGGGAGACTCTTCAGCAGAGCACCTTGCGGCC TTACTCCTGCACGTCTCCTGCAGTTTGTAAGGTGCATTCAGAACTCACTG TGTGCCCAGCCCTGAGCTCCCAGCTAATTGCCCCACCCAGGGCCTCTGGG ACCTCCTGGTCTTCTGCTTCCTGTGCTGCCAGCAACTTCTGGAAACGTCC CTGTCCCCGGTGCTGAAGTCCTGGAATCCATGCTGGGAAGTTGCACAGCC CATCTGGCTCTCAGCCAGCCTAGGAACATGAGCAGCACTTCCAACCCAGT CCCTGCCCCACAGCAAGCCTCCCCCTCCACACTCACAGTACTGGATTGAG CTTTGGGGAGGGTGGAGAGGACCCTGTCACTGCTTTCCTTCTGGACATGG ACCTCTCTGAATTGTTGGGGAGTTCCCTCCCCTCTCCACCACCCGCTCTT CCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAA AAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGAC CACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCA GCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAG GCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGAT CACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAA AAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGG CAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAAC GGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGG CAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGG GCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCTGATGCA CTCCTCAAAGCAAGATCTTCTGCCAGACCCCCAGGAAATGACTTATCAGT GATTTCTCAGGCTGTTTTCTCCTCAGTACCATCCCCCCAAAAAACATCAC TTTTCATGCACAGGGATGCACCCACTGGCACTCCTGCACCTCCCACCCTT CCCCAGAAGTCCACCCCTTCCTTCCTCACCCTGCAGGAGCTGGCCAGCCT CATCACCCCAACATCTCCCCACCTCCATTCTCCAACCACAGGGCCCTTGT CTCCTCTGTCCTTTCCCCTCCCCGAGCCAAGCCTCCTCCCTCCTCCACCT CCTCCACCTAATACATATCCTTAAGTCTCACCTCCTCCAGGAAGCCCTCA GACTAACCCTGGTCACCTTGAATGCCTCGTCCACACCTCCAGACTTCCTC AGGGCCTGTGATGAGGTCTGCACCTCTGTGTGTACTTGTGTGATGGTTAG AGGACTGCCTACCTCCCAGAGGAGGTTGAATGCTCCAGCCGGTTCCAGCT ATTGCTTTGTTTACCTGTTTAACCAGTATTTACCTAGCAAGTCTTCCATC AGATAGCATTTGGAGAGCTGGGGGTGTCACAGTGAACCACGACCTCTAGG CCAGTGGGAGAGTCAGTCACACAAACTGTGAGTCCATGACTTGGGGCTTA GCCAGCACCCACCACCCCACGCGCCACCCCACAACCCCGGGTAGAGGAGT CTGAATCTGGAGCCGCCCCCAGCCCAGCCCCGTGCTTTTTGCGTCCTGGT GTTTA	G G	transcript_ablation transcript_ablation	HIGH	HG00642.hp2 HG00738.hp2 HG01884.hp2 others(11): Show HG00642.hp2 HG00738.hp2 HG01884.hp2 HG02080.hp1 HG02258.hp1 HG02965.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03654.hp2 NA18522.hp2 NA19240.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	14	386	0.0363	-3804	c.-67 others(10): Show c.-672_*2444del	p.0? p.0?	HBA2	ENSG00000188536.13	transcript	ENST00000251595.11	protein_coding	2/3					chr16	TogoVar
SVOPL_chr7_138589285_138706362	138639364	TGCCTGTA others(3793): Show TGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGGCCACATGAG GTCAGGAGTTCAAGACCAGCCTGGCCAACATTGTGAAACCCTGTCTCTAT TAAAAAAACGAAAGTTATTTGGGCGTGGTGGCGGGTGCCTGTAATCCCAG CTACTTGGGAGGCCGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGG TTGCAGAGACTGTGCCTCTGCACTACAGCCTGGGCGACAGAGGGAGACTC CGTCTCAAAAAAAAAAAAAGAAAAGAAGAGAAAAGAATGGGAAGGAAAGG AAAAGGAAGGGGGAAAAAAATCACCTATAGCTTTACAAGAGATACTTTGA GACAGGGTCTCGCCCTGTTGTCCGGGCTACTAAAATACAGGGTCCAGTAC AGCAGTGCGATCATAGCTCACTGCAGCCTTGACATCCTAGGCTCAAGCCT CCATAGCTCACTGTAGCCTCAACCTCCTGGACTCAAGCAACCCTCCTGCC TCAACCTCTGAAATAGCTAGTTGGGACTACAGGTGTGCGCCACTATGCCT GTTTTTTTTTTTTAGCGGGGAGCGGTAAAAAGGGGTCCTGTTTTGATGCC CAGGCTGGTCTCAAAATCTTGGCCTCAAGTGATCTTCTCATTTCAGCCTC CCAAAGTGCTGGGATTACAGGCCTGAGCTATCTCACACCCGGACTCAAGA AATACATTTAAAGCAAAGCAGTGTAGAAAGACTAAAAATAAAGAGCTGAA AAAAGATGCACATGGAAAATACTAACCAAAGCTACTTTCAACATGTTAAC ATGAGAGAAAATAGAATTTAAGGCTCTTCATTCTCAAAGACAATGATTTT TTTTTAACTTTTTTTTTTATATTTATTTATGTTTTGAGATGGAGTTTCGC TCTTGTTGCCCCAACTGGAGTGCAATGGTGCCATCTCGGCTCACCGCAAT CTCTGCCTCCCGGGTTCAAGCATTTCTACTGCCTCAGCCTCCCGAGTAGC TGGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTATATTTTTACT AGAGTCAGGGTTTCTCTGTGTTGGTCAGGCTGGTCTGAAACTCCCAACCT CAGGTGTAACTCCCGACCTCAGGTAATCCACCCACCTCAGTCTCTCAAAG TGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCTTTTTAAAAAATTTT TAAACAGATTAAGGCAGCCACAAATAAGAATGAAATCATGTCCTTTACAA CAACATGGATGCAGCTGGAGTCCATTATCCTAAGAAAATTAATGCAGGAA CAGAAAGCCAAATACCATATGTTCTCACCTTTAAGTGGGAGCTCAACATT GGGTACTCATGGACATAAAGAGGACAGCAATAGACACTGCAGACTACTAG AGTGGGGAGGGAAAGGGCAAGGGCTGAGAAACTAACTATTGGGTACTATG CTCACTGCCTGGATGACAGGATCAATCATACCCCAAACCTCAGCATCATG CAATAGACCCATGTAACAAACCCACACATGTACCCCCTGAATCTAAAATA AGAGTTGACTGGGTTACAGTGGTTCACACCTGTAATCCCATAAATTTGGG AGGCCAAGGAGGGAGGACTGCTTGACCCCAGGAGTTCAAGACTGGCCTGA GCAACAAAGCAAGACTCCATGTTTACAAGAAATTTAAAAATTAGCTGGGT ATGATGGCGCACACCTATGGTCCTAGCTATTCTGGAGGCTGAGGTAGGAG GATCGAGCCTGGAAGGTCAAGGCTACAGTGAGCTATGACAGTACTACTGC ACTCCAACCGAGGTGACAGAGTGAGACCCCATCACAAAAAATAACTCAAT AAAAGCTGAAATTATTAAAAAAAAAAAAAAAACTTAAATTCAGTTTAGAC AACTACAACAAAAAAAAAAATGTAAGGTCCAAAGCCATATAAGGATAAAG AAATACTTCAAGTAATAAGACTAATGCATGGACAAAAATCAATCATATGC TAGAATGCAATGAAAAGACAGCCTCAGCTGGGCGCGGGGCCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCAGG AGTTTGAGACCAGCCTGACCAACATGGCGAAACCCCATCTCTACTAAAAA CACAAATATTAGCCAGCCATGATGGCAGGCGCCTGTAATCCCAGCTCCTC AGGAAGCTGAGACTGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAG TGAGCCAAGATCATGCCACTACACTCCAGCCTGGATGACAAGAGCGAAAC TCCATCTCAAAAAAAAAAAAAAAAAGATAACCTCAAAATTTATGAAATAT ACCCTATTAGGCCTATAAGGAGAAATGGAGAAAGTCATTGTCTTTTTGAA AAACTGTTAACTCAAGAGGCAAAAATCTAGACGTATCAAATATATATATG TTATATATATATATATATATAACATATATATATAACATATATATAGTCAA TGAGTGTGTATGTATATATAGTCAATGGGTATATACAGTCAATGAGTATA TATGTATGTGTATACACACACACACACACACACACACGTACATATATACT CAAGGAGAACACAGATTCTTTTTAAACACTCTTGTGACATTAACAAGAAG TCCCTATATAGAGGACAAATAGAAAGTTTCAATAAATTCCAAATAACAAC ATCCTCTTAACCAAAATACAGTTACATTATAATAACATAGCTAACAGATA ATTCAGTGGTTTAAAAAATAAATCTTGAGAAATAGAAATACATTTACTCT TGAGACATGAATGTAGCTAATTGTTTATTAAAAATAAAAAACACTGAAAA TAAATGATCATCTAAGTATTGAACTCAACAAGCTAGAACAAAAAAAGTCA AAGAAAATAAAACGGAAATTAGCCAAAAAAAAAAAAAAAAAAATCAATAA AGAGAATGGACCCCGCCCCCGCAAAAGCTTGTTGTTTGAAGTCTAATGAA ATACACAAACTTCTAGTAAGCTGGACCAAGAAAAGAGAGAAAGCACAAAT AAACAGTATTAAAAATAAAAAGGGCACATTATCGCATAGATTTTTAAAAT TCAGAACACTGAAAACATTATATCAATAAATTTGAAAACCCAGATAAATT AAATAATTTTCTTTAAAATATATATAACCAAGGCTGGGCACGGTGGCTCA CACCTGTAATCCTAGCACTTTGGGAGCCTGAGGTGGGCAGATCTCTTGAG CTCGGGAGTTCAAGATCAGCCTGGGCAACATGGTGGAAACACTGTCTCTA CAAAAAACACAAAAAATTAGCCGGGTGTTGGTGGCTCGCACTGATAGTCC TAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTGAACCCAGGAGGCAG AGGTTGCAGTAAGCCGAGATCACGCTACTACACTCCAGCCTGGACGATAG AGCGAGACTCCTACCTCCAAAAAAAAAAAAAAAAAAAGAAGAAACAAAAT TTTTAATAATAATATATATAACCAAAATTGACTCAATCAAAAGTATAAAC AAAAGTAGACTGTAACCTTTAAATAAATTGAATCGTAGTTTTTTAAAAAC TCCTCTGCCCAGGATGTAGTGAAACTGGATCCCTTGTGCACTGTTGGTGG GAATGTAAAATGGTTCAGCTGCTGTAGAACACAGTATGGTGATTCCTCAA AAAAATTAAACATAGAATTATCACAGGATCCAGCAATTCCACATCTGGGT ATATATCCAGAAGAATTGAAAGTGAGGCCTTGGCCAGGTGCGGTGGCTCA C	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0077 a0003c0007t0001g0077	1	360	0.0028	-3800	c.789 others(17): Show c.789+1553_789+5352del		SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	9/15					chr7	TogoVar
GVQW3_chr11_76376323_76413132	76396562	ACCTTGGC others(3792): Show ACCTTGGCCTCCTAAAGTGCTGAGATTACAGGCATGAGCCACCATGCCTG GGCTCAAATTAGATGTTTTAACAGCCAGTGTTTATTTAGATTTATAAACC TGCATACCGGCTTCGTTGCCTATCTTTCTCTCTTTTTACTGAAATATAAT TCATATCCAATAAAATCGTTAGTATATTTACAAAATTGTAGAACCATCAC CACTAATTTTAGAACAGATTACAGCATTCCACAAGGAAACCCCCTACCCA TTAGCAGTTTCCTCATTTTCTTTAATCCCCTGGCAACCACTCATATACTT TCTGTTTCTATGGATTTGCCTATTTTGGAGATTTCATATAAATGGAATCA TAATATGTAGCCTTTTATGTCTGGCTTCTTTCACTTAGCCTAATGTTTTT AAGGTTCATCCACGTTGGAGCATGGGTCAGTCATTTATTCCTTTTTTTTT TTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCATGCTAGAGTGCA ATGGTGATCTCAGCTCACCACAACCTCCACCTCCAGGGTTCAAGTGATTC TCCTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGTGCGCACCACCACG CCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATGTTGGC CAGGATGGTCTCAATCTCTTGACCTCATGATCTGCCCACCTTGGCCTCCC AAAGTGCTGGGATTACAGGCATGAGCCACCACACTCAGCCCCTTCATTCC TTCTTATGGCTGAATAACATTCCATTGTGTGAATCTACCACATTCTATTT ATTTATCAGTTGATGGACATTTAGGTTGTTTTCGGCTTTTGGCTATTATG CAGAATACTGCTATGAATGCTCATGTACAAGGTTTTTGTGAACATACGTT TTTAATTCCCTTAGGTATACACCTAGGAGCGGTATTCATAAGTAATTCAT TATTTCTTGTATTCACTGGTATGCTGGTAAATATTTAACACCAGTTTTCA CTTGGTAGGGTTGGGGATCTCTGATTTGTAACATTTGTTAATTTCTAGAG TGTAAATATTCAAATTACCAATGTGGCATCATTGAATGTAGAACTGGGAA CAGATGCAGAGTAGTACACCATTCTATAGTATGTCTACTGTATAAACACA GGAGATACAAATAAAAGTTGCATGGTTGATAGCATAATGTGGTAAAATAA TTAAGAAGGCATGCATTGTGAGGATTTTTGACCTTTATATTTAAAGTGAT TCATTTAATTGTAAGTTTACATAATTTAATGTTTGAAAATGGGCCGGTTG CAGTGGCTTATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGTGG ATCATCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATGGTGAAAC CCCATCTCTACAAAAGTATGAAAAGTAGCCTGGTGTGGTGGCCTGTGCCT GTAGTCTCAGCTACTCGGGAGGCTGAGGTACGAGAATCCCTTGAACCCAG GAGGCAGAGGTTGTAGTGAGCCAAGATGGCACCACTGCACTCTAGCCTGG GTAATAGACTGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAAGA AAATGACTGTGTGTAACAACCAATTCTCAAAATTCCTGGAAGTTTTAGCA GTCTGCTATCTGGGCTGATCAGAGCTAGCTTTGGTGCCTCACTTGTATCC CACACCTTACATGTTACTTCTTTCTGGATTCGATTTTCTTTTTTCTTTCT TTTTCTTCTTTTGAGACAGTCTCACTTTGTAGCCCAAGCTGCCAAGCTAG AGTGCAGTGGCTCAATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTTA AGTGATTCTCATGCCTCAGCCTCCTGAGTATCTGGGACTACAGGTGCATG CCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTAC CATGTTGCCCAGGGTGATCTCGAACTCCTGAGCTCAGGTGATCCGCCTGC CATGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGC CTCAATTTTCTTTAAAAAACAATTGTTTTTTTATGGAGTTGGTCTTGCTA TGTTGGCCAGGTTGGTCTTCAACACCTGGCCTCAAGCGATCCTCCCACCT CAGCCTCCTGAAGTGCTAGGATTATAGGTGTGAGCCACCATGCCCAGCCT GAATTCAATTTTCTTATAGACGTATATCTATTAATGTGTTAAAATACTTT CAGCAGGTTTCTGTGAGGTAAACTAACTGTCTTTGTTCATCAGAAAATGT CTGAAAGTTTGGCTCTCGCTTACTAATTTGTGTATAGGATTCTGGTTTGA GATTTATTTTTTGTGCACACTTTGAAGATATTATCCTACTGTCTCCTGGT TCTCATTGTTGCTGATGAGAAAGCTGATTTCATTGTAGTTAACATTCCTT TTGATAATCTGTCCCTTGTCACTGCAGACTTTTATATTTGCCTTGTGGTT TTGCAGTTTAATCAGTATGTGACTAGTCATGTAATTGTATTGTATTGTAT TTTATTTTATTTTATTTCATTTTATTTTATTTTATTTTATTTACTTGAGA CACGGTCTCACTCTGTCGCCCAGGCTGTAGTGCAGTGGCATGATCTCAGC TCACTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCT CCCGAGTAACTGGGATTACAGGCGTGCATCACCCAATGCCTGGCTAATTT TTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGATCTC CAACTCCTGACCTCAAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCATGCCTGAACTGTTTATTTGCTGTCTTCGT ATGTTTCTCCAGTTTTGGAAAATTATCAATAATTCATGATGGTTAATTTT ATTTGTCAATTTGTCTGGACCACGGGGTGCCCACATGTTTGGTCACACAA TTATTCTGGGTGTGTCTGGGAGGGTGTTTCTGGATGCGTTAACATTGGAA TCAATAGACTGAGTAAAGCAGACTGCCCTTTCTAATAATGCGAGCAGGCC TCATTCAGTTGTTGAAGGCTTGGATGGAACAAAAAGGCTGACTCTCCTGC AAGTAAGAGGAAACTCCTCCTGCCTGGCTGCTGGGACATCAGTCTTTTCC TGCCTCCAGACTCAAACTGAAACACCAGCTCTTTTTTTGGGTCTCAAGAT TGCAGGATTTTGAACTGGAACTTACACCACTGGCTCTCCTTTTCCTCAGG CCTCTGGACTCAGGCTGGAAAGTCACTGTTGGCTCTCCTGGGTCTACAGC TTGCCAGGTACAGATCTTGGAACTTCTCAGCCTCCGTAATTGCCTCCATA ATTGCATGAGCCAATTCCTTATAATAAATCTCTCTCTCTCTGTATACACA CACACACACACACACACACACACACACACACACACACACGGATCTTGTTG GTTCTGTTTCCTGTTTCTCTAAAGAACCCCATAATGTTAAATCTTTCTTT CTTTTTTTTTTCTTTTTTGAGATGGAGTTTCGCTCTTGTCACCCAGGCTG GAGTCCATTGGCGTGATCTCTACTCACTGCCACCTCCGCCTCCCAGGTTC AAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACGGGCGCCT GCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCA CCATGTTGGCCAGACTGGTCCTGAACTCCTGACCTCAGGTAATCCACCTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0116 a0001c0001t0035g0116	1	382	0.0026	-3799	c.466 others(17): Show c.466-7094_466-3296del		GVQW3	ENSG00000179240.13	transcript	ENST00000529331.2	protein_coding	1/1				INFO_REALIGN_3_PRIME	chr11	TogoVar
ASMT_chrX_1610059_1648081	1637583	GTGTCCCA others(3783): Show GTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTG GGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGA GGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGG CACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG TCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTG TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCAC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACA GCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC ATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATC CTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC CCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA TCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTG TGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGA TGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA TCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT AGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCA TTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	223	0.0045	-3790	c.910 others(17): Show c.910+1043_911-1411del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8				INFO_REALIGN_3_PRIME	chrX	TogoVar
DHRSX_chrX_2214506_2505976	2277927	AGAGGGAG others(3782): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAG GAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGA AAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGA GAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGA GGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGA GGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGG GGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAG AGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGA GAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGG AACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGA GGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAG AGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGG AAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGC AAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGA AAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGG AGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGG GGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAG AGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAG GGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAG GAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGA ACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAG GAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGA GAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGA AAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAA AGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGA GAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAG GAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGG GAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAAT GGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGA GAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGA GAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAA GAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGG GAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAA AGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGA GAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	50	0.0200	-3789	c.388 others(18): Show c.388+9786_389-10981del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6					chrX	TogoVar
HYAL4_chr7_123840169_123882481	123840454	TGTCTTGG others(3782): Show TGTCTTGGCAATGTGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAG TTTTTTCCAATTCTTTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCA TTGAATCTATAAATTACTTTGGGCAGTACGGCCATTTTCACGGTATTGAT TCTTCCTATGCATGAGCATGGAATATTCTTCCATTTGTTTGTGTCCTCTT TTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACA TCCCTTGTAAATTGGATTCCTAGGTATTTTATTCTCTTTGTAGCAATTGT GAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTAATGGTGT ACAGGAATGCTTGTGATTTTTGCACATTGATTTTGTGTCCTGAGACCTTG CTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGGTT TTCTAAATATACAATCATGTCATCTACAAACAGGGACAACTTGACTTCCT CATTTCCTAATTGAATATCCTTTATTTCTTTCTCTTTCCTGGTTGTCCTG GCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCATCC TTGTCTTGTGCTGGTTTTCAACAGGAATGCTTCCAGCTTTTGCCCATTCA GTATGATATTGGCTGTGGGTTTGTCATAAATAGCTCTTATTATTTTGAGA TATGTTCCCTCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGCTG TTGAATTTTGTCGAAGGCCTTTTCTACATATATTGAGATAATCATATGGT TTTTGTCATTGGTTCTGTTTATGTGATGGTTATGTTTATTGATTTGTGTA TGTTGAACAAGCCTTGCGTCCCAGGGATGAAGCCAACTTGATCCGTGATG GATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATTGA GGATTTTTGCATCAATTTTCATCAGGGATATTGGTTTCTAAAATTCTCTT TTCTGTGTGTGTATCTCTGCCAGTCTTTGGTATCAGGATGATGTTGGCCT CATAGAATGAGTTAGAGAGGATTCCCTCTTTTTCTATTGTTTGGAATAGT TTCAGAAGGAATGGTACCAGCTCATCTTAGTACCTTTGGTAGAATTCGGC TGTGAATCTGTCTGGTCCTGGACTTTTTTTTGGTTGGTAGGCTATTAATT ACTGCCTCAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTC TTCCTGGTTTAGTCTTGGGAGGGTGTATATGTCCAGGAATTTATCCATTT CTTCTAGATTTTTTAGTTTATTTGCATAGAGGTGTTTATGGTATTCACTG ATGGTAGTTTGTATTTTGTAGGACCAGTGGTGATATCCCGTTTATCATTT TTTATTGCATCTGTGTGATTCTTCTCTCTTTTCTTCTTTATTAATCTTGC TAGCAGTCTATCGATTTTGTTGATCTTTTCAAAAAACCAGCTCCTGGATT CATTGATTTTTTTGAAGGATTTTTTTGTGTGTCTGTATCTCTTTCAGTTC TGCTCTGATCTTAGTTATTTCTGGCCTTCTGCTAGCTTTTGAATGTGTTT GCTCTTGCTTCTCTAGTTCTTTTAATTGTGATGTTAGGGTGATGATTTTA GATCTTTCCTGCTTTCTGTTGTGGGCATTTAGTGCTATAAATTTCCCTCT ACACACTGCTTTAAATGTGTCCCAGAGATTCTGATACATGTTGTCTTTAT TCTCATTGGTTTAAAAGAACATCTTTATTCCTGCCTTCATTTTGTTATTC ACCCAGTAGTCATTTAGGAGAAAGTTGTTCAGTTTCCATGTAGTAGTGCG GTTTGGAGTGAGTTTCTTAATCCTGAGTTCTAATTTGATTGCACTGTGGT CTGAGAGACAGTTTGTTGTGATTTCTGTTCTTTTACATTTGCTGAGGAGT GCTTTACTTCCAATTATGTGGTCAATTTTAGAATAAGTGCGATGTGGTGC TGAGAAGAATGTATATTCTGTTGATTTCGGGTGGAGAGTTCTGTAGATGT CTATTAGGTCTGCTTGTTGCAGAGCTGAGTTCAGGTCCTGGATATCCTTG TTAACCTTCTGTCATGTTGATCTGTCTAATATTGACAGTGTGGTGTTAAA GTCTCCCATTATTATTGTGTGGGAGTCTAAGTCTCTTTGTAGGTCTCTAA GGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGATGCATATATATTT AGGATAGTTAGCTCTTCTTGTGGAATTGATCCCTTTACCATTATGTAATG GCGTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTTGCAG AGACTAGGATTGCAACTCCTGCCTTTTTTTTGTTTTCCTTTTGCTTGGTA GATCCTCCTCTATCCCTTTATTTTGAGCCTATGTGTGTCTTTGCACGTGA GATGGGTCTCCTGAATACAGCATACTGATGGGTCTTGACTATTTATCCAA TTTGCCAGTCTGTGTCTTTTAATTGGGGCATTTAGTCTATTTACATTTAA GGTTAATATTGTTATGAGTGAATTTGAGCCTGTCATTATGATGTTAGCTT GTTATTTTGCCCGTTGATTGATGCAGTTTCTTCATAGCATCGATGGTCTT TACAATTTGGCATGTTTTTGCAGTGGCTGGTGCCGGTTGTTTCTTTCCAT GTTTAGTGCTTCCTTCAGGAGTTCTTGTAAGGCAGGCCTGGTCCTGACAA AATCTCCCAGCATTTGCTTGTCTGTAAAGTATTTTATTTCTCCTTCACTT ATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTC TTTAAGAATGTTGAATATTGGCCTCCACTCTCTTCTGGCTTGTAGCATTT CTGCTGAAAGATCTGCTGTTAGTCTAATGGGCTTCCCTTTGTTGGTAACT CGACCTTTCTCTCTGGCTGCTCTTAACACTTTTTCCTTCATTTCAACCTT GGTGAATCTGACAATTATGTGTCTTGGGGTTGCTCTTCTCGAGGAGTATC TGTGCTGTTCTCTGTATTTCCTGAATTTGAATGTTGGCCTGCCTTGCTGT GTTGGGGAAGTTCTCCTGGATAATATCCCGAAGACTGTTTTCCAACTTGG TTCCATTCTCCCCATCACTTTCAGGTATACCAATCAAACATACATTTGGT CTTTTCACATAGTCCCATATTTCTTGGAGGCTTTTTCATTTCTTTTTATT CTTTTTCTGTAACCTTGTCTCCTTGCTTTATTTCACTAATTTGATCTTCA ATCACTGATACCCTTTCTTCCGCTTGATCGAATTGGCTATTGAATCTTGT GCATCCGTCATGAAGTTCTTGTGCCATGGTTTTCAGCTCCATCAGGTCAT TTAAGGTCTTCTCCACACTGTTTATTCTAGTTAGCCATTCATCTAATCTT TTTTCAAGGTTTTTAGCTTCCTTGCAATGGATTCAAACACCCTTCTTTAG CTCAGAGAAGTTTGTTATTACTGACCTTCTGAAACCTACTTCTGTCAACT CATCAAAGTTATTCTCCATCCAGCTTTGTTCCATTGCTGGTGAGGAGCTG CGATCCTTTGGAGGAGAAAAGGCATTCTGATTTTTAGAATTTTCAGCTTT TCTGCTCTGGTTTCTCCCCATCTTTGTGGTTATATCTACCTTTGGTCTTT GATGTTGGTGACCTACAGATGGGGTTTTGGTGTAGATGACCTTTTTGTTG ATGTTGATGCTATTCCTTTCTTTTTGTTTTCCTTCTAACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02683.hp1 HG03492.hp1 HG01175.hp2 HG02683.hp1 HG03492.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0006 a0004c0004t0001g0007 a0004c0004t0001g0082 a0004c0004t0001g0006 a0004c0004t0001g0007 a0004c0004t0001g0082	3	394	0.0076	-3789	c.-53 others(11): Show c.-5352_-1564del		HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding				4714		chr7	TogoVar
SORCS2_chr4_7187538_7747827	7744048	CTGCACAG others(3772): Show CTGCACAGCTCAACCAGGGAGCACCTGGCCCAGCTAAAAATCCCTAGTCC GAAGCCATGGTTGAGCTGGGTGCAGGCCGAGTGCAGGTGCTCATGAGAAG ACGCAAAGGAGACGGATGTCCAGGGTTGGTGCAGTGCAGAGGCCAGCAAG GGGGGTGTGTTTGTGCTTGTGTGTGACCAGTGACAGAGAGAGATAGTGTG AACACAGCAGTGTACTTCAGAGCCCTTTGCATGTGACCATTTTATTCCCT TTTGCTGACTGCCAGGACTCAGGGAGGAAGTGAGAATCCCTCAGCCACCC TGTTTGACAGTTTCCATTCTCACTTCAGTGCACCAGGCTCTGTGAGTGTC TTCTCCCTGGGAAAAGCTAGTGAGTGTGGTGAAGGCTTCACGCTCCCACA GCATTCATCTGGAACCTTTTGCTGGAATGATCTCCCCAGCTGGCAGCAGG AGGCCATGTCTAGACAACGGGAAGGCCCACGATGGAGCTAACGGAGGCTT CACGTGTTCAGATGATGGAGCTAATGGAGGCATCACCTGTTCAGATGACG GAGCTAACGGAGACGTCACCTGTTCAGCTGACGGAGCTAATGGAGGAGTT ACCTGTTCGGATGACGGAGCTAACGGAGGCGTCACCTGTTCAGGTGACAG CAGCAAAGCATGCCCATTGGCTCTGCGTTTGTAACCTGCCACAAGATGCT ATTTGGCCTCTTCTCCAACCTGAGCTTCATGTAGACAGGGCAGGTACAAG CAGCCAGATCACAGATAAGGAGACCAAGACATCCCAGGCGGCTGGGAAGG GGGAAACAACTTTTAACTGAAATATGGGGCACTGTTTGAAAGCTCCAGCT AAACCCCAAATTCGAGGTAGCCTTGAATTTAGTGTCCAGAGTCATTTGGG AAACAACAAATCTCAAAGGAACAGAGAGAAACATGCAATGTCATGGACAT GTTGCATTACAAGGACAAAACCCCTCACCTCAAAGATCCGACATGTTCAT TCCTTTGGTTCAATGGGGGAAACAGAAATGGCCGATGATGGAATGCTCCA GTAGTCAATCACAGTGGCTGCTCCCGAGGCCTCCTTGCAGCAGGGGAATT GGCCACCAGGGCCGTGGGGTGGCTCTCAGAGAAGGGGCTGGGAAAGGAGC ACTCTGTGTGCCCATTAGGCCCAGAGAAGGGCAGCCACCTCATTTCTCAG TCACACGTCCCCAGAGGCCCCTTCTGTGGCACACCCGTGATCTCTCCAGA GGACTCCCCAGCAGTTCCAGCCCCAGCATGCAGGGATATGCCCCCAGAAG GCACTGTGGGGACGCTGCTTCTGAGGCTGCTGTCAAGAATGTCACCTATT TCCATGGGGATTTGTGCAAAATCAGGGTTGGTGGCCAAGAGGAAGTGGCC CTTGGCATCCAGAGTCACTGGGCACTCCCAGCGGTGCCTGGGCTTTTCCC CCGTCCAACACACCCAATGTCATCGAGCACCAACATAAGACAAGGCCGCT CCAGGATCAAGATGAGTCAAGACAAAAGTGAGACCACTGTGCAATCAGAC CACACAGGAACATTGTCCAACCTCCCAGAAATGTGTAGACACCTCTCCCT GCCGAGACGGGTGAGGGCCGCGGTGTCACTGGCCGGGCTCCTGCCTCCCC TGAGTCACCCCTCCCTCTAGAGAAGATTGATTGAGATGCCAGATCCTAGC ACGACCCCGCCTCCTCACAGCCCCCAATCCAGAGCCAAGCCCAGCTTCCT TGAGTCCCCTGCCAAATCACCTCTCACTGCCCACACCTGACAATCATCAG GCCCTTCTAACCCCGCTGAGACGCCCAGGTTCTCCTCGCTGCACTGAGTG GTAACCCAGCTTGCTCAGCTACAGGTGAGCTCCGGGGGGGTCCCAGGCTG GGGGGCACTAACAGAGTCCTCTTTTAGTGGGGTGGGGTGGCACTGGGGAG GAACCAGTGTCTGCAGGTGGGCAGCACAGACCCTCTCAGCAGGAGTAGCC ACATGGAAACCCACGCCAGCCCAAGCTCAGTTCTAACAAAAGCTGGGGAA AAGCTGGGGAGACGCAGCCATCCCTGCACACATGGGGCGGGTGGCGGTCT TTGACTTCCCCACCTGTCCCAGCCACACCCAGAGTCTTTAGGCAGGGAAA CGTGGCATGAGTCTGGGACTGCTGGAATGATTGCCAAGCACTGCCATTTC CAACGGGGCTCGGTGGCAGTGGCCCTTCACAGCGGTCCCCAGCCTCTGCT GGGCCTGGCATCATGTTCCAATCCACAGGGACGTCTCCTGCAGACTGCAC AGCCTGGGGTCTTTTTGCAGTTGAGTGAGTTCAGACTTGCCAGTTCCAGG CTCTCAGTGGCACCAGCCCAGGCATTTAATAATGTGTGCCCAGAACCCAC AGCCAATTCCATATCATTACAATTCGATTGTTAATCACAGGCAGCACCAG GCCCAGCGGACGGCCTGCTGTGCTCCTTCTAGGGTTCTAGAATTCTTCCT GGCTCAGCGCTGGAAGAACAGTGCCAGTCGCGTCTTCTGCAGCTTGCATT GGCCCAAGTGTTCAGCGCTGTGTGTGATCCAACAAGCGCTCAGGCTTTGG AGGCACAGAGAGGCTGTGCCAGGCAGCAGAGTGTGGAGCCCAGTGGGATG GCAGTCCTTGTGACCCCCTCAATTAGTCTCTGTGGTGCACCCAGCCTAAT GTCGGGCACTTTTCATGCCCCTCCTGCAACACGCTGGTGGCAACTCCCTG GAATAGATGCCTCCATCCCTGTCTCATAGTCCAGGGAAGCAGGGCCCACA GAAACCAACAGCCAGGACCAAAGTGAGCACCGCAGAATACCCGGGCCCTC CCGTCACCACCGCGCCTCTGTGGGGGAGCTCAATGTGAGTCTCAGCAGGA AGATTGGCAAGGAACCACGGAAGGGGGCGAGGACCCACGGAAGGGGGCAG GGACCCACGGAAGGGGCAAAGTGGGCAGCCCGTCACAGACAAGGTCAGGC AATAGAGGGGCAGGACCTCACTGATCTTTTATAAAGTGTCACTTGTGCAT CAAGAGAGGAAGCTGGGTGACCGGCAGGAGGCCAGTCTGAGCTGGTGTCC CGAGCGCTGTGGTCAGGGTGAGCGGGTGAGACGTGGAGCTGCCAGAACCC ATGGGTAGATGGAAAGAGGGAAGTTGAGGACACTGCCTGGACCAGGGCCT GAGAAACCAGGCGGTCAGAGGCCCCATGAACTGACACAGGCAAGAGCAGG GAAGGAAGGAGCAGGCCTGGGTGAGAAATTGAAACTTCTCTTTTGGAGTT GTTATGATGGGGGTGCCTGCCTGTCAGATGCCTACGTGGAGAAGCCTCCG GAGCCACTGGCTGTGTGAGTAGCCCTCAGTAAGGAGAGGTCTGAGCTGAG AAGGAGCGGCCACCCTGCAGAGAGGGCGCCCAGGGGAGAATGTGGCGTCC AGGGGGCAGTGAAGCCACACTGCCGAGTGAGGGGTGCTCCAGGCTGCAGA GAAGCTGAGTGGATGATCCAGCCAGACGAGGCCTTCAGGGGGCGTGAGGA CAGAGACGGCTCAGGGCGGGTGGAGGGAATCATGGAAGGCGAGGAAGAAG ACAGCCAGCATGCATGCTAACACTATCTAGAAGTTTCTTATAACTCAGGA GCAGAGAATCGGGGCAGCAGCTGGGAGTCTGTGGCTGTGGATGGTTTTGG GAAGAGAGTGGTGTGTGGAGGGGACTGACCCAGCAGACATGGAGAGACAG GTGGTGCAGGAGGGTGTGGTCCTATCCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0012 a0012	a0012c0039 a0012c0039	a0012c0039t0063 a0012c0039t0063	a0012c0039t0063g0064 a0012c0039t0063g0064	1	168	0.0060	-3779	c.37 others(11): Show c.3785_*7563del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding				1222		chr4	TogoVar
KAT6A_chr8_41924479_42056987	42007916	CGTGCCAC others(3771): Show CGTGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAATTTTTATTGTTAACTTCATAATCCCAAT CAATTAATTCAAATTCCATATAGTCAGTATCTCATTACTTCATTTTATTG ATAAGGAAAAGATACTAAGCATCAAGGCTTTAACTACATAAAACAAACAT TTGCAAATTCTGTACTACTTAACCCCCCAAAAAAAACCCTCAGCCAAGTA TGGCTGATATATACAGAGCCAGAGAGACTAGTAAAAGATTAGGCAGAGTG TGAACATGACAGGCTTGATCCACAGACAGTAACTCACAAAGCTCCCCTCA TTAGGATAATCCAAAGCTAACATTTTCAACTCCAAAAATCCTAGAGCCTA AAAACTGAAACCCTATCCTTAAGTAATATTTTCTTTTTTTGAGACAGGGT CTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTG CAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCATCCTCCCAAG TAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAAGTTTTATATAT TTTTTGAGTAGAGACGGGGTTTCACGTTGCCCAGGCTGGTCTCGAACTCC TGACCTCAAGTGATCCGCCTGCCTCTGCCTTGGCCTTCCAAAGTGCTGGG ATTACAGGCATGAGACACTGCGCCTGGCCCCTCGAGTGACATTTTTTTAA CACTGTTCTCAAGAACAGTGCCATCTAGTAGAACTTTCTGGGATGATGAA ATGTTCTATATCTCTGTTGTCCAATACTGTAACCACTAGCCACATGTGAG CTAGTGGGTACTTGAAATGTGCTAGTGGTTATCATTACTTTAACTTTAAT TAATTTAAATTTAAATAGCTACATGCACCTAATGGCAACTGTACTGGTTT AGTTCTAGAAAGTCTATATATAGAAGACATTTTAAAATTGTAATTTAAAA GTTGGTGAATAAAGCAATATAAAAGATGAAGAGAGCAATTTTTTACCTTG AAAATCAATTTTTAATGTAAACTCTACAGTAAATGACTCTGCATACACAG CACCCCTGTACAAGGCTGGCTTTCATACCAAGTGTCTCAAATCACATATC ATCATTCACCTTTTAATATCACGCTCTCAAGTTTTAGTTTAATTCGTTGC GGAAAATACATTAGTGAGAACATTGCATATAAATAACTAGCTACATCAGA GAGAAAATCAGTTAGTTAACTACAATGTGTCTCTTTCCTTGACCATAAAA TGGGGATAACAGTAACTAGATCTGCAGAACTTGAATAAAAGAACAGGAAC CATAAAGTAATCTGAAGTAAAATATTAAAAGGTAATGCTATTAGTTTATA TGAAAATAAAAATTTTAAATATTATCTTATGCTGTTATCTTAGGAAACTT CACAGGAACTGGATTCTTGCTGAACAACCATATACAGCACCACTGTGCTA GGTGCAGATAATCTAGTATGTAAGTTTAAAAAGAAAAAAACACCCTACAT AAAAGACCATAACAAGTATCTTCATGGAAAAGGTGACATGTGACCCTGAG ACGACTAATGGGTGCATGTGGGTGCATTTTACATTCTTCACAAAACCTTT AATTTTTTTTCTGTTTTTCCACAACATATTAAACATTAACATCCTTTGTC AGGCCAGGTGCAGTGGCTCATGCCTGTAATCTCAGCATTTGGGGAGGCTG AGGTGGGAGGGTTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGAAACA TATGAAGACCTTGTCTCTACAAAAAATTTTAAGTATTAGCTGGGCATGGT GACATGCACCTGTGGTCCCAGCTACATAAAAGGCTGAGGTGAAAGGATTA CTTGAGCCCAGAAAACAGAGGCTACAGTGAGCCATGATCACAGCACCTAC AGCCTGGCGACAGGACAAAGCCCTGTCTCAAAAAAAAAAAAAAAAAAAAC AAAAAAAAACAAAACCACAATCCTTTGTAAAAAGCACAGGTCTCATTAAA GAAAAAGTACAGATTTACCCAACAGAAAAAAATAAATAAATAAATAAAAC AGGATAGTCGCAGTAGCTCACACCTGTAATCGCAGCACTTTGGGAGGCCA AGGCAGAGGCAGATGGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGG CAAACATTGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTTGGT GTGGTCGCGCACGCATGTAGTCCCAGCTACTCTGGAGGCTGAGGCAAGAG AATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCA CTGCACTCCAGCCTGGGTGACTGGTATTGTCAATACCATCTATTGACAAT AGGCCAGAAGACTGCAGATCAGACACTCTATGTACTTGTTGAGTAAACAT TGTATCAGAGCACAGAACTAGTTTCCTATGAGAAAGTAGAAATTGGGTTC AGATTCTAGGACTTCAACTTTATCCATAAAGCAATAACATTTACTAATTA GGGCAGATCTACAGAAATCTTGGGTTGCCTCAAAAAGATTCAAGAAAACC CAGAGCTCTGCCTGGCTTTCTTCCACACACACGTAGGCAAGTCTCTTCAC GATTCCAAACCCTCAGCCTCAGGGCGCCCTACTGTGCAACAAGTCTGATT ATCACCTCCCCATCACTGGGGTATGTGAGACAGCCCAAGTTTACATCTGT TGTCCTAGTACTTCCCTTCATCTCAAAAGTGATCTGGCTTGTGTAACAAA TCTTATGGCCCACACCTTCACTAACCCAGCAGTCACTCCCAGCCAGCATT ATAAACTGTTTGTGCTCTACTATGTGCCCAACCATTCTTGACACCAGATT CTTCTTTGCTTCCCCAGGGTTTCCTAAGCCTACTGGCAAAGAAGGTCCCT TTTCTTCCTCTGGGGTCACTAAAATAGAAGGATACGAGTCCTAAAACACC AGCAACCATGATCCCAATCATTTGGAGAAAACTCATCTGAGACAGGAAAC AATGTAATCAATTCAAAGAGAGAGCAGAGATAAGAGGAGATAATCCAGGC AATAATCTAATTCCCAGATCAGTTGTCCCCAAAAACCAATTCCATCCCTA TCATTCCTTACAGTTTGGTCCTATGCACTAACAAATCGCCCTTTTTACTC AAGGGCTTCAGTCACTTGCAACCCCAGACCTAACATGCCCCTTACATGTT AATTTAGATTATATTTTATTTTCTGAGAAAGTCTATCAAAAGCCAGAAAA GAACCCAAGTCTAATATACCTAGTTTTAGAAACTCAGAATGAAAAGCTAA TTCTTCCCTCTAAAACCACTGACACATTTTGCAGTCTAGATACTCAACTT TATAAAAAATCTTGAAAATAAGAACCCCAACTTTCAAGTTCCTACATTAC CTTCTTTAATTCAATAGACTAGTAAATGAGACCATTTGTTCTAGAAATGA GTATTCACAATGCTGATCGACAGTTAAAAATCACTACTTCGGCCGGGTGC GGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGA TCACCTGAGGTCAGGAGTTCGAGACTAGCCTGACCAACATGGAGAAACCC CGTCTCTACTAAAAACACAGAAAAATCAGCTGGGTGTGGTGATGCATGCC TGTAATCCCAGCTACGCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCA GGAAGCAGAGGTTGTGGTGAGCTGAGATT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	374	0.0027	-3778	c.601 others(19): Show c.601-24131_601-20354del		KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	2/16					chr8	TogoVar
KRTAP4-8_chr17_41091981_41103142	41099365	AAAATGTA others(3770): Show AAAATGTATAATATGTGGATAAGTTCCATACACCCTCATGGTATGTATAT TACTTGTGAAGTATTGACTATGTAGCAGGCATTGTACCAAATATCTTACA TTTGTTTCATTTTCACACTTTAATACAACCTTATGAACTAGTTTATATTC TTATTAGTCTTTTAGGGGAATACTCAAAAGAAGCATTAAAAACTTAAAAC AAACAAACAACTTGTCCAAGGTTAAAGAGAAAGTAAGCCTAATATGTCTT AGTGTAGCCAAGAAAGCCCTAAAGAATACAATTTGCTAAGCTTGCTGAAA CTGCTTCATCTTCTTGGAATGTTTCATCTTTTTTTGTCCACTCTGCAAAC TCCTACTCATGTGTCAAGACCCAGTTAAAATATTTCCTCCTCAATAATAT CTTTCCTGCTAAGCTACCCCATTCATGTATCATGATTTCCTGCCTTGTGC TCATAATTTGTTACATTCTCCTGTATCATAGTCATTTACTTCTGTCATTC CACCACGTGCAATGCAAATACCCTGAAGGCATGGGCTATGGCATTTATTC TTGTTACCATGATACTCAGCACAGAGAACACTGGTGGTAAATGTTTGTTG AGTGAAGGAAGGCTTTTGATGACATAGAGGCATGTAAGGTCCTTTAAAAA TGTATATATCTTTTGACTTCTGGATAAAAGAGAGGAAAACATTCCAAACA AAGAGATCATAATTTCATTTCAGGAAGACTAAACTAATTTACGTGGTAGG TAACATGTCATCTGATAAATAACATATGTGGAAAGTTGTGGAAGTTAAGA TTCAATTTATAGAATGAGACTTGTTTATAGATAACCAGGAATACAGTGTT GAACGTGCATGCCTATATTCACACAGTAAAAAGACAGGAAGGAAGTAAAC GCCAGATGGTAGCACTGGTTCTCCTTCACCTCCTGACTCCCTCGTTTTAC TCTTGTCGATTGAAATAACTATTATTTCCAGTTTCGTATCAGTCAGCCAA AAATGTTTGTTGATCATCTGTTGTCTTAACTTAAATTCTACCCAATGCAA ACCTTGAGAAAAATACCTGGGTGCACATAATTTATTTGGGGGATGATCCC AGGAAGCACAAGTGAGGAAATGGCGAAAGTAAGACAGAAAAGGTAGAAAA TCCCAACAGTGTTTGTGTTAATGGTAGGACCCCCACTGTGGGCATCTGGG GATGAACCCCGGGGACAGGCCTGAGGCTGGAGGCACTTGGCCACCATGAT TGCACACCTACAAAATCCTGGAGAGTCAGCTGGGTATTAGTATGAATCAT GAGATCAGATAAAATATGAACTTATACTAATCTATAGACTTTTTATACAC TAGCAATAATTGTCTCTAAAATTTAATGGAGAAAAATCACACTGGGGCCT GTCGTGGGGTGGGGGGAGGAGGGAGGGATAGCATTAGGAGAAACACCTAA TGTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATAC ATATGTAACAAACCTGCACATTGTGCACATGTACCCTAGGACTTTAAGAA TAATTTTAAAAAAGAACAATGTGCTCACAATTCTCAAGAGTAAATAGAAA AATATGTAAATAAATCTGCCAAGCCTATGTGAAGGAAAGTGTTAATATTT CCTGAAGGACATAAAATAACGTTTGAATAAATGTCAGAACAAGAGATGTG CAACGAAAGCCAAGTTTTCAAATAAATACATACATGTGTTATGCATGCAT TTAATGAGGATGTATCTCAATTTGTAACATTAGGTATTGAATGGGATTGG CAAAGACCGTGATGGGAAACTTACCTTTGGTTGCATTCTTTTGTATTGTC TAAATGTTTAAAGAGCATATATTTGTGTATAAATGATATAAAAATCCTTA GAAAATAATAAATTTGATTTATATAAAATTCATAATTTTTTCTACAGATT CTGTTAAGTATGTTTTCTGCTATTATGTTTACATTCTTATTTCTTTCAGG AACTAAAATATTAAAAGTACATTTCAGTCAGTCATTTGAGCTCTCAAATT AGCTATCATGAATTTCAAATTGTTTTGGGGGACAGGCTGGGTTCCCCAGG AAGCAGACACTGAGATGGAGAGCAATATGCAGGAGGTTTATTGAAGCATG CTCTTGGGATTAACACTGGGGAAATGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAAAGTGAAGGGAGAGAAGGGGAAGGGGAAGGGGAGGGGA TTAACACTGGGGAGAGGAGGGGAGGGGAAGGGCGGGGAGGGGAGGGGAGG GCAAGGGAAAGGAAGAAAGGGAGGGGAACGGGTGGGGAAGGGAAGGGGAG GGGAAGGGGAGGGGAGGCACAGCACAAGGGGTGGGGGCAGGTGGAGATGA CACAGGTTGGGTGATAGCAAGTGACGTGGCAGGAGACTCGACCACAGACT GGACGCAGGCAGCAGCAGGGGCAGCAGCAGCTCGATTCACAGCAAGAGGG GCAGCAGCTGCTGGAGATGCAGCAGCTGGGGTGGCAGCAGGTGGGCTGGA AGCACACGGAATGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCAG CTGGGGTGGCAGCAGGTCGTCCTGCAGCAGGTGGTCTGACAGCAGCTGGG GCGGCAGCAGGTGGGCTGGCAGCACACGGAATGGCAGCACTGGGGTCTGC AGCAGCTGGACACAGAGCAGCTGTGGGAGCAGGAGGTGGTTCTGCAGCAG GTGGTCTGACAACAGCTGGGGTGACAGCAGTTGGGTGGGCTGGCAGCACA CAGACTGGAAGCACTGGGGCTGCATGGCATCTTTGAACTGCACATAGTAA AATGCAAGAGGAAAGAAATGATTTAAAGGTGGAATTCATAATTAAAAGGG AAACAGAACATAAAGATGTGGAAAATGTGGAGACTGACCATATAAAGAAT GAAAAAGCATGCAAGATTGTGGCCAAGTAATGCTTTGTTACAAGGATTGA TATGAATAGAAGGAAGCTAGGTGCTGTTCATCAAATCAGTGGGAGAATGG CTCTGAAGGCATTTCAAAGATCTTTGAAGCTGTCCCTCCCATCACAGGCT CCAAATGAGAGAATCTTAAGGTCAGAAAGGGTTTGGTACTCTCCACATTC TAGCACAGTGCCCCTTTGCTGCTCCAGTTGTGGCTCAAGTGGGTTTAGAT GAGACTTGCGCTGCTGCTGCAGAGGCCACAAACTGTGAGCCTTGGTGGTG TTCATGTAGTACTGACTGTAGATACACAGACTGCAGGAGTTGTGGGGCAA TGGTGGTCCACCTAGGTTTGAAAGGATGTTTCTGACAGCCTGCCTTAGGG GTGTAGCCACAGCAGAGAGGTCCTCCTAGGGCCATGCTCAGGAAAACGGG GGGTCAGAGCAGCCACTGAGACCCTAGAACTGTAGAACTATCAGCCTGCA ATACTAGCCTGAGAGAGCTGCAGCAGAGACTCCAATCAGATAGCTGCTGT ATGGGCTGAGCCCAGCAAAGCCATGGGGCAGGGCTATCTGAGGGCATTTG GGGCCTAACACCAAGGCCCCAGGCAGCCCTTCCCCATGTCGGGCACATCC AGGAGACAGCACATGGAGTCGAAGTTTATTCTCCAGTCTTAAGATTTAAT GCTGTCTTCCCTGTTGGACTCACCTGGGGCCAGTTACCCTTTTTTCTTTC CTGTTGCTGCCTTTTGGAATGGGCCTGTCTATCCTATGCCTCTCCCACCA TTGGATTTTGGAACTAGATAACTTCTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 NA20300.hp1 HG01884.hp1 HG02055.hp1 NA20300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0000 a0006c0006t0007g0000	3	416	0.0072	-3777	c.-50 others(11): Show c.-5058_-1282del		KRTAP4-8	ENSG00000204880.9	transcript	ENST00000333822.5	protein_coding				1224		chr17	TogoVar
RAD54B_chr8_94366960_94480115	94460721	AGTTCCTT others(3760): Show AGTTCCTTTCTGGATGCTCCAGGAGAGAATATATTTCCTTGTCTTTTCAA AATTCTAGAAGCCAAACAAATTCTTTGGCTTAGCCCTCTTCCTCCATATT CAAAGTCAACTATGTTACATCTCTCTGACCCTGCTTCCCTAATCACCATC TCTTTCTCTGATCCTCTTCCCTCTCTCTCTTCCACTTCTAAGGACACTTA TAATTATAATGGGCCCACTCAGATCATCCAGGGTAACCTCCCCATCTCAA GGTCCTTAACATTAATCACGTCAGCAAAGTCTCTTTTGCCATGTAAAGTA ACACAGATTCCAGTGATTAGGACATGAACATGTTTAAAGGGCCATTTTTT CTGTCTACCACAGTAGTAAATGGTTGAATTTTTTTTAAATAGAAACTCAC AATAATAGGCAAAGTTGTCATGTTATTATAAATACTCATCTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTGGCCCAGGCT GGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTT CAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATG CACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTC CATGTTGAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCTGCCTC AGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCCAT AAATACTCATCTTAATAAATTTCATGGTTAGTAAATAAATTTTCCAAAAA AAAACCTGATAAATTTTTTTTATATTTTTTATATCTGATCAGATATTAAA GTAAGTCAACTAATGAAGGTCACAAATTTTCTTTTTTGCAACATTTTATT TTCATATAATTTCAAATTCATGGTAACATTCCAAAAATAGTATTCCTATA TACCTTTACCCATATTAACCATTGGTTTACATTTTCTTCCATTTCCCTCT CCTCCTTTGCTCTGTGTATGTGTGTACACACACACGTGAGAGTAAACTGC AGACGCTATGCTCCTTCGCCTCTAAATACTTCAAGGTGTGTTTCCAAAGA CTCTCTTCCATAATCACAGTAAAATTATCAAAATTGATTATTTAACACTG GTATAATACCAGTATCTAATCCACAGTCTATATTCAAATTTGGTCACTTA TCGCAATAACGTCTGTTATAGATTTTTCCCCAAATCAGGATCCAATCCTA GATCACACATTACATCTAGTCAGTATGTTCCTTTAGTTTCCTTCAATCTC TAACTTCATTCATCGTTTCTGGTCTTGAAATTTCAAAATTTCAAAATAAG GCCAGTTATTTTGCTGAATATCCCTCAATCTGGATTTGTCTGATGTTTCC CTATGATTAGTTTCAGATTGTGAATTTGGGGCAAGAATACAACAGTTCAT CATATTAGGAGGCACATAATATCGGTTTGTTCCATTACCAGAGGTATTAA CTTTGATCACTGATTAAGGTGGTGTCTGCCAAAGTATTTTTCCCTTTGTA ATTTTTTTAAGTATGTTGTGAGGAGATACTTGAATATATTCAAATATCCT ATTTCCTCATTGAACATTTACCCACTAGTTTTGGCATCCATTGAGACTCT CTAACACCATCATTACTTCTACTTCTATGCTTTAGCATTCCACTGTAAGG AAGAGTTTAATCTTCATTTATTTATTTATTCATTTATTTACATATATTAG TATAGATTCTGACTCCTGTATTATTCAATGGGCTATAATCCATTAGTATA TTTCTTTTGATGTTCAATTTGTCCCAGATTTTGTATTTATCAGACCAATC AAGTAAACACCACTGAAGTCACTAAAGCAATACTTTCTCACTATAGGTTA ATTCAATCTAAGATAAGAAATAGTTTAAAAACAAGAAGTTAAGAATGTAA CAGACAAAGTAAAAAGACGGCAGAGTTGACTGCTAAGCCTAATACTTTTA GGCTTCTCATGTTACCTTGCTTAAAATTGCTGTATAATTTCAAAAATGCC CCACTTCAGTTTTAAAAAGTAAAATAACTATTTAATTTATTTATAGAATT AAAAGAAAAAAATAGTAAATCTGTGTTTTTGCCTAGAATTAGTCCTTAGA CATTACATCAAAAAACAAATCTTGGCCAGGCATGGTGGCTCACACCTGTA ATCCCAACATTTTGGGACACCAAGGCAGGCGGATAACCTGAGATCAGGAA TTCATGACCAGCCTGGCCAACATGGTAAAACCCCAACTCTACTGAAAATA CAAAAATTAGCTAGGCGTGGCGGCAGGCACCTTTAGTCCCAGCTACTCCA GAGGATAAGACAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTG AGCCAGGATTGTGCCACTGTACTCCAGCATGGGTGACAGAGCAAGACTCC ATCTCAAAAACAAATAAATAAATAAATAAATAAATAATAAATATTGGTTG GACACAGTGGCTCACTCTAGCCTGGGCAACAGAGCGAGACTTCACCTTAA AAAAAAAAAAAAAAGACAGTTCTCCAAAGAGATACACAAATGGGTAATAA GCACACATAAAAGTGCTCCATATCAGCTATCAGAGAAATGCAAAGCAAAA CCACAATGAGGTACTACTTTACCCACTAGTATGGCCACAATCAAAAAGAT AATAAGTGTTGGTAGGGATATGGAAAAATTAAAACCTTCATACATTGATG GTAAGAATGAAAATGGAGCAGTCAGCTTGGAAAAGAGTCTGTCAGTTCAT TAAGAGGTTAAACATAGAATTATCATATGATCCAGCAATTCTACTCCTAG GAATACACTCAAGAGAAATGAAAACATGGCCAAGTATGGTGGCTCACATC TGTAATTCCAACACTTTGGGAGGCTGAGGAGAGGACTGCTTGAGCTCAGG ACTTAGAGACCAGCCTGGGCAACATAGGCAGACCCCATCTCTATAAAAAA TTTAAAAATTAGCCTATAAAATTTAAAATTTAAAAATCTCTAAAAAAATT TAAAAATGATGGCACATGCCTGTGGTCCCAGCTACTTAGGAGATGGAGGT GGGAGGATCACTTGAGCCTAGTAGGTGGAGGCTGCAGTGAGCCATGATGG TGCCATCATCAAGACCCTATCTCAAAAAAAAAAAAAAAAAAAAGAAAGAA AGAAAAAAGAGAGAAACGAAAACACATATCCACACAAAAATTTGTACACA AACGTTCATGAGTATTACTCATAATTGCTAAAAAGTGGAAACAACCCAAA TGACCATTAACTAATGAATAGATATATAAATTGTGGTATATTAAAACAAC AGATTATTCAGTGTGGTAGGCAGAATAACGGCTCCCAAAGATTTCCACAC CCTAATCCCCAGAATCTGTGAATGTATTGTTATGTGGTAAAAAGGACTTT GCAGATGTGATTAAGGACCAGGACCTTGAAACGGAGAGATGATCCTGGAT TACCCAGGTGGGCCTAACCTAATCAAATGAGTTCTAGCTGCAGAAAACCA AAGAGAAGGAAACATGAGAACTCAAACGTGCTTCCCTGGCTATGAAGACG GAAGAAGGGGACCATGAGCCAAGGAATGTGGTGACCTGTAGAAGCTGGAG AAAGCCAGGGAACAGATTTCCCCTAAAATCTCCAGAAATGAATATAGCCT TACCAACACCTTGATCTTAGATCTGTGTTGAACTTTTGACCTACAGAACT ATAAGATAATTCATTTGT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	362	0.0028	-3767	c.135 others(17): Show c.135+2917_136-2286del		RAD54B	ENSG00000197275.14	transcript	ENST00000336148.10	protein_coding	2/14					chr8	TogoVar
NUP210L_chr1_153987690_154160073	154108426	CCAAAGTG others(3752): Show CCAAAGTGCTGGGATTACAGGCATGAGCCACTGCAACCAGCCTAGAGTTT TGATTAGTTTTCTCTTTGCTAATTTGTTAGTTTGTTTATGCAATCAGTGT TAAGACGTCATCAGTTTAAAATAATGAGTTATAAGATCTTATTTGCAAGC GTCATGGTAACCTGACAAAAATAAAACACAAGAAATTAAAACATACCACT GGAGAAAATCACCTTCACAAAAAGGAAGAAGGCAGGAAGGAAGGACAGAA GGAAGAGAAGACCACAAAACAACCAGAAAACAAATTAAAAATGGCAGGAG TAAGTTCTTATTTATCAATAATAACATTGAATTTAAATGGACAAACTCTC CAATCAAAAAAGATAGAGTGACTGAATAGATTTTTTTAAAAAAGGCTGAG CACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGC AGATCACCTGAGATTGGCAGTTCGAGACCAGCCTGACCAACATGGAGAAA CCCCGTCTCTACTAAAAATATAAAATTAGCTGGGCGTAGTAGCACATGCC TGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTG GGAGGCAGAGGTTACGGTGAGCCGAGATCATGCCATCGCACTCCAGCCTG GGCAACAAGAGTGAAACTCCATCTCAAAAACAAAAACAAAAACAAAAACC CAACAATCTGTTGCCTACAAGAAACATGCTTCACCTATAAAGACACATGT AGACTGAAAATAAAGAGATGGAAAAAGATTCCATGCCAATGGAAACCAAA AAAGAGCAAGAATAGCTATGCTTATATCAGACAAAATAGATCTCAGGACA AACTATAAAAAGAGAAAAAGAAGGCCATTATGTAATGATAAAGGGGTCAA TTCAGCAAGAGGATATAACAATCATAAATATATATACACCCAATACTGGA GGATCCAGATGTATAAGGCAAATATTATTAGAGCTTAAGAGAGCTATAGA CCTCACTACATTAATAGCTGGAGACTTCAACACCCTACTTTCAACAATGA ACAGATTATCCAGACAGATAATCAACAAAGAAGCATCAAACTTAGTCTAC AATGTAGACCAAAAGGATCTAATAGAATTTACAGAACTTTTCATTCAATG GCTGCAGAATACACATTCATCTCCTCAGCAAGAATGAGTATTCTTGATCA TATTCAAGAATAGACTACGTTAGGTCCAAAACAATTGTTCAAAAATTCAA AAAAATTGAAACTATGTCAAATATCCTCTCTGACTACAGTGTACTAAAAC TAGAAATCAGTAACAAGAGGAATTTTGGAAACTATACAAACACATTGAAA TTAAACAACTTGCTCCTGAATGACCAGCATATCAATGAAGAAATTAAGAA AGAGATTTTAAAATTTCTTGAAAAAAACAAAAATGAAAACACAACATAAC AAAACCTATGAGATACAGTGAAAGCAGTACTAAGAGGAAAGTTTATAGTA ATGAATGCCTACATCAAAAAAGTAGAGGCCAGGTGCGGTGGCTCACACCT GTAATCCCTGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAG GAGTTTCAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTAATAAAA ATACAAAAAATTAGCAGGGCATGGAAACGTGCACCTGTAATCCCAGCTAC TCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCACAGGTTGC AGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGAAACAAGAGCAAA ACTCTGTCTCAAAAAAAAAAAGGTAGAAAAACTTGAAAAAAACAACCCAA TGTTGTATTTTTTTTTTTTGACAGTCTTGCTCTGTTGCCAGGCCAGAGTG CTGTGGTGCAATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCA ATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGGCACGCCAC CATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGT TGGTCAGGATGGTCTCAATCTCTTGATCTTGTGATCCACCTGCCTCGGCC TCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCGAAGTA TCTTAAAGAACTGGAAAAGTTGGCTGGACACAGTGGTTCATGCCTGTAAT CCCAATACTTTTGGAGGCTGAAGCAGGTGGATTGCTGGAGCCCAGGAGTT CAAGACCAGCCTGAACAACATGGTGAAACCTTGTCTCTACAAAAAATACA AAAATCAGCTGGCGTGGTGGTGTTCACCTGTATTCCCAGCTACTTGGGAG ACTGCGGCTGGAAGATAACTTGGGCCTGGGAGGTAGTGGCTGCAGTGAGC TGTGATCTCACCACTGTACTCCAGCCTGGGCAACAGAGCAAGACCTTGCC TGAAAAAAAAGAAAAACAAAACTGCAAAAGCAAGAGCAAACCAAAGCCAA AATTAGTAGAAGAAATAATAAAGATCAGAGCGGAAATAAATGAAATAAAA AAATACAAAAGATCAACAAAATGAAGAGTTGGTTTTTTGAAAAGATAAAC AAAATCGACAAACCTTTAGCCAGACTAAAAAAAAAAAAAAGAGAGAGAGA GAGATGACCCAAATAAGTAAAATCTGGCTGGGCACGGTGGCTCATGCCTG TAATCCCACCACTTTGGGAGGCCAAGGCCGGGAGATCACCTGAGGTCAGG AGTTTGAGACCAGCCCGGCCTACATGGTGAAACCCTATCTGTACTAAAAA TACGAAAATTAGCCAGGCGTGGTAGCAGGCGCCTATAATCCCAGCTACTC GGAAGGCTGAGGCATGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAA TGAGCCCAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATT CAGTCTCAAAAACTAGATAAATAAATAAAATATATAAATAATAAATAATA AAAGTAAAATCTGAGATGAAAAAGAAGATATTACAGCCAATACCACAGAA ATTTAAAGGATCATTAGGGGCTACTATGAGCAATTATATGCCAATAAATT GGAAAACCTACAAGAAATGGATAAATTCCTAGACATATACAACCTACCAA GATTGAACTATGAAGAAATCCAAAGCCTGAAAAGACTAATAACAAGTAAT GAGATCGAAGCTGCAATAAAAGTCTCCCAGCAAAACAAAGCCCAGGACTT GATGGATTCATGGCTAAATTTTACTAAACATTTAAAAAAGAACTAATTCT AATCCTACTCAAAGTATTTTGAAAAATAGAGAAGAGAATACGTCCAAACT TATTCTATGTGGCCAGTATTACCCTGATACAAAAACCAGACAAAGACTTA TTAAAAACAAAACAAAACACTACAGGCCAATATCCCTGATGAACATGATG GAAAAACTCTTGACAAAATATTAGTAAACCAAATTCAACAACACTTTTTT TTTGTTTTGTTTTGTTTTTTCAGATGGAGTCTCACTCTGTTGCCCAGGCT GGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTT TAAGCAATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGACTATAGGTGCG CACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGAAGGGGTTTC ACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGTGATCTGCCTGC CTCAGCCTCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03195.hp1 HG06807.hp2 others(1): Show HG03130.hp2 HG03195.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0204 a0001c0003t0001g0210 a0001c0003t0001g0211 others(1): Show a0001c0003t0001g0204 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0215	4	290	0.0138	-3759	c.162 others(19): Show c.1620+5540_1621-4217del		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	12/39					chr1	TogoVar
TPM3_chr1_154156813_154197100	154185154	CTGAGGTC others(3752): Show CTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTC TCTACTAAAAATGCAAAAATTAGCCGGGTGTGGTGGTGCACACCTGTAGT TCCAGCTATTCAGGGAGGCTGAGGCAAGAGAATTGCTTAAATCCAGGAGG CAGAGGTTGCAGTGAGCTGAGATGGTGCCACTCTACTCCAGCCCGGGTGA CAGAGTGAGACTCTGTATCAAAAAAAAAAAAAAAAAAATGGCAAAACAGA CCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGG CAGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTG AAACCCTGTCTCTACTAAAAACCACAAAAACAAGCAAACAAACAAACAAA CAAAAAACTAGCCAGGTGCAGTAGCAGGCGCCTGTAATCCCAGCCACTCG GGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGAAGGCAGAAGTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACAC AGTCTGAAAAAAAAAAAAAGAAAAACAACAAAAAAAGAAACTTTCCCTAC AGGCACTGCCATGCAGGATTTCTGGAAGCACAATAGTAAAGAGACTTGAG AACGTTATCTTCCCTCTTATTTCTTTGTATTCCTCCCACCTTCCCAGTAG GTAATCGTGATAAATTTTTCTTCTGGGACAGCTCTCTTTTCTCCTAGAAA ATTAGGATGTGGAACAGGACTTACAATGAAGAGTCCTAATCCCTGAAAGG AATAGTAGGCAAGACAGTTGCTGCCCTCAATGTCTAGTTCTAAGAATGCT CCCTGCAGAGCCTCTGTTTTCCTATCACCTTTTGGAAATACCGAGCAATG AGACTATTCAGAAGAAACAACTTGGATAGATAATAATTTTCTCAATAGAG TAACCTGCACACTGATTTTTCCCCCAGAAATTAGGAAGGAAGATCAGGGT TCTGACTCTTAATAGACTCTACCCTGATGGCCTAAGAATTTTTCTAACTT GCTTTGTAGAAGTCTGATCAAGATGTGGCAGAAGTGACACTTTGTCATCT GGGTGCTGCTCAGCAGGGGGCACTATTGTACCTCCCTGTGCCCTGGTAAA GCAGCAGAAGACCTCATCCTAGCCAAACCAAGAGGGTATTGAGAGCACCA CTGCATTTCTGAGACTGGTAGATTTGAGCAGATAATCTCCTCTTAATGCA GTCAAACAGATGGACTGACTCATGATAGCCTTTAGAAGCACAATGGATAG ACAGCAAGGGGCCCAGTGCTATTGTGTTCCTAGTAACCAGCAATACAATA TATCAACAGGTGTATATGTCCATCGTTGTCCCTTCTCTCCCCATCCTTCC TGCCACCTGTCCCTAAAAAATGGTGTTATGACTCTATGTCCTAACAATGC ACTCCTCTTTCCCTTTGTTTCTCCCTAAACAGCATCTGATTTCATCTTGG ATTAAAATGATCTTAGATGTGGTTGCACAACAATGTAAATATGCTACTAC TGAATTAGACATTTAAAAATGGTTAAAATGGTAAGTTTTATGTATGCGTA TTTTACCACAACTTAGAAAACAAAGTTAGACAAATTTAGGGAGGAAAAAA AAGTTTGGACTCGCCTTGCCATACCCTTGCCCTTTCTTTATTCAAGCAGT CCTAGTAAATCCTGCACTTTTCAGAAAGGCTTCTCAGATAACCAGAACTG CTTGTGTAAACACGTAGTTATTGACTCCCTCCTCCTTCTCTACTGCTTAT ATCTACTTCAAGATAATATGCTCTGTTTACTTATTTATTAACCTCAAGGA CAGAAGCTGAGCTGTTAACTTCCTTTGTATTGGACAGAGTATACTCCCTC CAAAGATGCATATATTATGCTGCTGATGACTCTTACCTTTGCTTTCTGCT TTTAACCTTGTTGGTCCTTATTCAGCACCTCTCCCAATTCCTATAAACAC TGTCCTTCTTTGACCCTTTGAGGCAGGGGTCATCCAACTTTTAGGGTCTT GTGGCCAGAGAGATAAGAAAGCCAGTAGACAGTATGTACAAGAATGAGCA TGACTGTGTTCCGATAAAACTTTATTTACAAAACCAGGCTGTTGCAAGAT TTAACCCACAGGTGGTAGTTTGCTGACTCTAGCTTTGAGGAAAGAAACCT TTCTTCTTGCTTGCTCCTGGCCACAACCTTCCCTCTCCTGTTTCTTGTTC TTATGCATATCTCTGAGGGTACTTTCTGACTTGGGAAAGCTAACAAAGGG GAGAGGGGTTGAATGAGTATTTTTAACCCTCACTTTACATATTTAAATGG GTTTTGGTGGATTCCTATGTAAATATGAAGAAACTTCTTTCAAATGAATA TACTGAGTAGACCACATCTAGGTGAGGGGTGCTATGTGTGTGTATGTGTA TGTCTGTACATGTGTAAAACAGATTAAGATAGACAGAATTCATCCCCAGG AAATCCTTTTATATTCCTAATGATTTTGATGTATTGCGTACAGCCTCTAT GTTATTCTCCTTCTCATGATCTCAGGTTAGACTTGTTCTTTTTCTTGCTC CTGGAAACACCTCCTCAAGCCCACATACTAGCCGTTTCAGCCTAAGAGCA GACCCAGATTGATGTTACCCAATTTCTCACAAAACTGTTATTAACCTGAC ATTGTGCTAGTTTGTGAAAACTTCTATCTTCATGCCCATATGTTAGAAAC AGAGAGATCCATCCAAATATACCAGGAACCTAGGCTATACAACTCCAGCC AGCCATCCACTTGCCCAAAGCCCAGGGGTAACCTGTAGATTTGGTAGGGT TGTTTGTTTGTTTGTTTTGTTTTGTTTTTTTGAGTTTTCTGAGAAGGGAG AATTTTTATCATTTTAAATAGAGACAGGGTCTTGCTCTGTCACCTAGGCT GGAGTGCAGTAGCATTATCATACCTCACTGCAAGCATGAACTCCTGGCTT CAAGCGATCCTCCCATCTCAGCCTCTGGAGTACGCGGGACTACCGGCACA TGCCACCACACCTGGCTAATTTTTAAATTTTTTGTAAAGATAGGGCCTCA CTATGTTCCCCAGGCTGGTCTTGAACTCCTGGCCTCAGGCGATTCTCCTG CCCTGGCCTCTCAAAGCAAAGTGCTGGAATTACAGGTCTGAGCCACCACA CTGGGCACAAGAAGGGAGAATTAATAGTTTGTGGCGGCCTGGCCGGGCGC GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGTGGCGGGCGGA TCACAAGGTGAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCA TCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCACCTGT AGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAAGA GGCGGAGCTTGCAGTGAGCCAAGATCGTACCACTGCACTCCAGCCTGGGT GACACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGCCTGTGCT GGCCTTAACTTTTGGAAGAATGAGTTTAAATGATGTATATTTAGTTTGTG TTTCTAACCTCTGGCATAATATATTCAATTCTTACCACTTTCCTTGGCCA CTGAAAGTGGTGGAAAACAAAACAGATCAGAAACCTAATGGCAGAGGCCA GGCATGGTGGCTCACATCTGTAATCCCAGCATTTTGAGAGGCCAAGGTGG GTGGATCACT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02615.hp2 others(4): Show HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02922.hp2 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0266 a0001c0001t0009g0005 a0001c0001t0009g0267 others(2): Show a0001c0001t0003g0266 a0001c0001t0009g0005 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0009g0269	7	372	0.0188	-3759	c.243 others(17): Show c.243+2273_243+6031del		TPM3	ENSG00000143549.22	transcript	ENST00000651641.1	protein_coding	2/9					chr1	TogoVar
ZNG1A_chr9_115837_184056	129432	CAGTTGAA others(3740): Show CAGTTGAATGGATAAAATAAATGTGGTAATATACATACAACCAAATATTA TGTATCCTTAAAAAAAATCCCGTCATATACTACAACATGGATGAATCTTG AGGACATTACACTAAGTGAAATAAGCCAGTCACAGAAGGACAAATATTGC ATGAATCCACTAATATCAGGTGTCTAAAACAGTGAAACTCATCAAATCAG AAAGTAAAACGGTGGTTACCAGGGGTGAGAGGGAGACGAAAATTGGGGGG GGCTGTTCAATGGGGATAATTTCAGTCATGCAAGATGAAAAGGTCCAGAG GTCTGCTATGTAACAATGTACAGACAGTTAACAATACTATATTGTACCCT TAAAAATTTGTGGAAGAAGGTAGGTCTCATGTTAAGTGTTTTTTACCACA ATAAAAAATATACAGTCATGGATACATAAAGAGAAATGAGCTGTTGGGCA ATTTTGTTGTTATACAAACATGATAGTGCACTTACACAAACCTAGATGGT ATAACCTACTACACACCTAAGCTATGCTGTATAGCCTGTTGCTCCTAGGC TACAAACCTGTACAGCATATATGTTACTGTACTGAACAGTGTATGGAAAT AATAACGCAATGGTAAGTATTTGCGTGACAGTAATTTTTCAGCTCCATCG TAATCTTATGCAGTCTGACTAAAACGCTGTTATGCGGTGCATGACTATAC TTATTTTTAAATCTTAATAAACATACTCTATTTTAAAACTATTTTTATAG CATAAGGTAATAATAATATGCATTTTTAAATGACAATTATTTTATTTCTT CATTAAAGGAATCACTACAATACCTAAAAGTCCACATAAAAATATACAGC AAAAGGTTGTCAAATGAAACATAACTGTCAGTTAAAAAAAAATAAATTTA GTCTTCAAAAATGTTTAAAATGTATTTTAATGCAAGTTGGAAAACTATAT TGAGAATGTCGCAAAATACGACTCCAAATGGCTTTATTGTTAAAGATTTT AACTTAATAAATTTTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGG AGTAGAGTGGCACAATCATGGCTTACTGCAGCTTTGAACTCCCAAGCTAA AGCAATCCTCCCACTTCAGCCTCTCGAGTAGCTAGGATTACAGGTACATG CCACCATGCCTGGCTAATTTTTTGTATTTTTTGCAGAAATGGGGTTTCAC CATGTTGCCCAGGCTGGTCTACAACTCCTGGGTTTTAAGCAATCCACCCA CCTTGGCCTGTCAAAGCGCTAGGATTACAAGCATAAGCCACCACACCCAG CCTAAAGATTTTTATAATGATTTTTGCTTTTATCAGGTTAAATATGTGAC TTAATATTTTTAAGGGGTACAATAAACTCCAGTATGAGACAAAAAAGGCT TTAAAAATTAAGATAACGCATCATGGGGCTCAATAAGGATGATCTATATT TTGGAACCAGATGTTTTCCTACACCAATAAACTCTTTTCACGTTAGAAAA ACCCTGAAAAAAATCTGTAATTCCCAGTGCAGAAGATAAGGGTCACAACT CATAGTTGGTTCTAATAATAAACTAAACATTATTTGTCACTTGGGTTTTC TCATCTACCTTCCCACTCTCCAAACCCAGGTGTTCCTTATGGGGAATAAA CAAAGAATCCATGAAAAATAGATAACTGCATTAAAAATTCAGGGATAGAG CCTTAATAACACATATATACTAGGTCCTAGGTATTACCCATTTCAGACTT TTTTTTTCCAGTTTTTGTTTTGAATCTAAAATTAACTCCTTTTTCCATGT ATGCTGACACAGAAAGAAACAGAAAAGTGAGCCAATAATTGAGAAAACTA AAGCAAAATAAGGAATTGTCTCTAAAATAAAATTTAGGAACAACTTACTC AGGTTTGTTTATTTAGTCTGTTTCTTCTTTAACCCACTGGGTTATTTCTC CATTTTCTACTTTTTTGCAAACAATACCTAGCATACAATAACTTTTATAG GTTTTCTTCATCCAGAACACTAAGCCCCCTAATGTGCTTAAACTCAAAAT CTGTACCTTCACACTCTATCCCTCTGTTCTTCTTTGCCTGTATAATATCT ATACTATAATATCTGGCCACCAGGGACAACTGAATATATGGCATTATCAT TCAAATCACTTTGCCTTCCCGATTTTTCTATTTCTAGGTTTCTCTAGTCA ATCTAGGCTCGTTTCCCATCACCCCTTCTTTTCTTTCTGATCCATACTCA GTCAGACAGGATATTCAGGCAAGTCTACTGGTGAAACAGCTCTGGATTTA TCCCATTTCTAGTCTCACTGTAACCAACATGTTTCAGGCCCTTATCACAC AGTATCTTCCCGCATGGTCTCCGGACTCTAAAGTCCAATCTAGCTTACAT AACACTCCTAGACAGCACTGCTTGAGTTCTCTTTGTCTAGCAAATTAAAA CCTAATACCTTAGACCAGGATTCCAGTACCAACTCTCCACTAAGACTTCT GTACCAGACACCTACTCATCTATAAGATTCTCACCTTCTCATTTTTAAAC ATCCGTATTGCTCTTTTCCTTACTTCTTCCCGTCAAAAAAAATCCTACCG TCAAAAAAAATCCTACCAGTTCAAGGTTATTTTTTGTTAAGTAAGTCAGA ATAGCACTTACCCCTTCTTTGACTAGGAAGGGGCAAAAAGGAACTCTTTA CAATTTTGGATATCTTTTGTATCTTGACCTGAGTGGGAGTTAGAAGGATA TGTGTTTGAATGTGCATATAGACAGATATATAGGTACAAATATATGTAAA AATACATTGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAAGCAGGTGAAGTCAGGAGTTTGAGACCAGCTTGGCCAACA TGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAATACAAAAATTAG CTAGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGG CATGAGAATCACTTGAATCTAGAAGGAGGAAGTTGCAGTGAGCCAAGGTC ACACCACTGCACTCCAGCCTGGGTGAGACTCCAGCCGGAGCGAGACTCCG TCTCAAAAAAAACCAAAAAAACAAAAACAAAAACAAAACCCAAACATCGA ATTGTACACTAAAATTACACATTTGCATGCTTTACTGTATGCAAATAAAT AAACCAAAACCAAAACAAACAAACAAAAAACTATCCTCATGAAGCATTTG ATGGGGTTCAGGACATGCTATCCCAAAATATGCCAATTCAATATTTGAGA AAATGGCAGAATCAGGAAGGTCACTCTCACCTTCTCTCCTGAAGCAGGTC ATAAAACCTAGGAAAGATTTTCTGACCTTCCGCTGATGCAGGTCATAAGA CCCTCATTTAAGAGGTGCCCTCTCTATACACAGAGGAAAACAACATCCTT AAGTCTGAATATGAAGGGTCACAGAGAAAAATCTGAGCAAACAGGCCTTG CTAAGTTCTTCCCAGTTTATTATTAGATCATACTGTTTTATCTAATTATG CTTCTCCATTACTATCCTCTTCCATATCATAACTAACAGAAAACATACAC AGGTATGTTTTATGAAGGCTCCTGTGTCAAGTAAAACTTACTAAATAAAT TTCTATGTTGAAATTTCTCTTGATAGTTGGTCTTCTGTTAGAGAGACCTC AGCCATGAATCTAGTGATAGGCGAGGAAAAGATAAATTTCCTCCCTTA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02723.hp2 others(4): Show HG02258.hp2 HG02615.hp1 HG02723.hp2 HG02886.hp1 HG03041.hp1 HG03130.hp1 NA19030.hp2	a0002 a0004 a0002 a0004	a0002c0006 a0004c0007 a0002c0006 a0004c0007	a0002c0006t0001 a0004c0007t0006 a0002c0006t0001 a0004c0007t0006	a0002c0006t0001g0362 a0002c0006t0001g0363 a0002c0006t0001g0364 others(4): Show a0002c0006t0001g0362 a0002c0006t0001g0363 a0002c0006t0001g0364 a0004c0007t0006g0365 a0004c0007t0006g0366 a0004c0007t0006g0367 a0004c0007t0006g0368	7	394	0.0178	-3747	c.816 others(17): Show c.816+1800_816+5546del		ZNG1A	ENSG00000172785.19	transcript	ENST00000356521.9	protein_coding	11/14					chr9	TogoVar
ADD2_chr2_70651784_70773200	70761501	AGGAGGCT others(3738): Show AGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGACAGAGGTTGCAG TGAGATGAGATTGTACCACTGCACTCCAGCCTGGGTGACAGAAAAAAAAA AAAAAAAAAGGAAGGAAGGAAGGAATTAAAGTATACTAAATCTCTCATTA TTTATGAAAGAACAAATAGACACAACTTTTTTTTTTTTTGAGACAGAGTA TCGTTCTGTTGCTCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGC AAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTT TTAGTACAGACGGGGTTTCACCATATTAGCCAGGATGGCCGATCTCCTGA CCTCACGATCTACCCGCCCTGGCCTCCTGAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCTGGCCAACACAACTATATTTTTTAATGTTAATGAAGA CTAGTAGAAAAAAATGGGCAGAAAATTTCCCTTTTATCTAAAGAACAAGG GACTCTTACACTACATTTAAGTTAAGAAAGGGGGTGGAAAAATAGCTTGG AATTTTTTTAATGTAAAATAAAATTTTAGAAGATCTGTGACTGTATCACA TATAATAAATGTAAATTGAGTCACAATTGGATTAAAAATCCAATTATGAT GCTTAAAATAGACAAAAATCAAAATGACGTAAAAGAAGAAAGCTTAAGAA GAAAGAGAATGAGCATCACACCAGGGAAATGGAAACAGAAAGAAGGCAGG ACCAGATTTCTTATCACACAGTAAAATTTAAGACAAAAATAAAAATACAA TGAGACAAAGCAGGTCTGGAAATATGGAAGATTCACCCCACAATGGAGAG TCAAGGGTCACAACATTTGTGTCACAGAGGATAACCAGTCATCCCCATTT GCCTGGCACTGTCCCAGCTTTAGCACTGAAAATCCCTCATCCCAGAAAAC CCATCAGTCCTGGGCAATCAGGGCCCTGAGTAATACAGCATCAAATATAA CTATGTAAAAACATATAAAATATACACAAATACATGTTTATATATATAAT TACATAATTATATATCAAATAAATATATAAATATAACTATATTATATGGA TTTAAAGGGCATGCTAAAGGACATAGCAAAAGGAAAGCGGTCAAAAATTT CATTTTCTTTTTTTTTTTTTTGGAGATGGAGTTTCATTCTTGTTGCCCAG GCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGG GTTCAAGCAATTCTCCTGCCACAGCCTCTGGAATAGCTGGGATTAGAGGC GCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTT TCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCAC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACC CAGCCAAAAATATCATTTGAGACTAACATCTTTTGTATTCTTTGACAGAT CACTTAGGTACAAAGAAAAGTTTAAAATAAATTTGAATAACATAATCAAT AAACTCATTTAAATCTATACAACTGAAGTTTAGACTCCACAGAGGATACA CTTTCTCTTCATCTCTTTCAGTAACATTGGCAAAGCTTTCCTATGTAGTT TATCTTGGAAGACAGACCGGGATGAAATCTTTACTAAAAGCCTGCCATTC CATGAGTGCTCTTCGAGTTTGGAAGATTTGGTGGTGGTTGTCATTGAAGA CAGGCAGTTTTTCATATTATTGCTTTAAAATTCTTTCAGGCTAAAATTGT AGCAGCCAATGTATGTGGAGTCAAATATTGTGGCTGCAATCTCTTCTAAA GATTCAAATTTCTATTCCAAGAATCTGTGTGTGTCCCTGTACATAGTTCA AAATGCTTAAACTATATAAACATCCCTTTTGGCAGAAAAAATTTCTCATG ACCTCATGGTTGACCTAAGTCACTTTTATTAAAATGTAACTTAAATATGT ATACTCATAAATACCAGTTCTAAACACCTATGCTTTACAGCTTTTATATT ATTAAAATGCCAAAACAATGTACAAATACAACTATCCACTTTAAAATATC AAAGTAATAAAATTAATTTATTGCAATAGGTAAGTCTTTCACATGTAACA ACTCATTCTTATAATATCACCATGCAATCAATGCCATATATTTATTCCTA TATTATTATAGGAAATTGAGCAGGAGAGAGGTTGAATAACTTGCCTAAAC TCTCACAGCTAGTAAGTAGAAAAATAATTTTTGAAGTCAGACAGTCTGGT GTCACTTAACCATCAGAACAAATTACCCATCTCATTTTCTTTTCTTTTTT TTTTTGAGTTGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGT GATCTCGGCTCACTGCAACCTCTGCCTCCAGGATTCAAGTGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGAGATTACAGTTGCCCACCACCATGCTCAG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGTCATGC TGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAA GTGCTGGAATTACAGGCGTGAGCCACCGCGCCCGGCCCCATCTCATTTTC TTAGATGTAAGGTACCTATTGGAGAGTTACTAAATATGCATTAAATGAAG ATCTAATTCAAATATTGTTAAAATCCACAACAGCAACTTTTCTGTTGTGT TTTTACTACATCTGCTGCTAATAAATTGCTGCAAACTTGATCCATACAAA GATGAACTGGCGTGAGATCTTCAATCCCTGCCAATAGAGCAGTGGTCGCC AGGAGCTGTTCTTTTGGAGTTGGCAAGTTGTGTGTGTCCTGTGTAGACTC ACTCTCTCCACTATTCCAACTCCCCTTCCCTTCACCCAGGCTGTGGCTGG AGCCACCAGGCCTGCCCATGGCTCAAATGGAAAGATACAAAGGCAAACGC AGACTCCAGCATCAGTTTCAGCCTTGCCATCAAGATGATCCAGAACACAT TTTTACTGCTAATTATTTATGATTATCACTGGAATAGGCCAGGCATAGTG GCTCATGCCTGTAGTCACAGCTACTCAGGAGGGAGAGGTGGGAGGATCGC TTGAGCCCAGGAGGTCCCGGCTACAGGGAACTATGATCATGCCACTGCAT TCCAGCCTGGGTAACAGAGCAAGATCCCTACTCAAACAGTCTGGGTGACA GAGCAAGATTCCGCAAAAAAGATTATCACTGGAATAAAACCACTAATGTC AGAGAATACACAGATCTTTCAAAATACGTATATCTTCAGAACCCCAGGGG GCTGAGAGACCTGTGGCATGATATCATTAGCTCATGCTGAGGGCCATTGT GAAAAACAACCCTATGAAACTTGTCCTTGTGTCTGATGAGGAGGTGATCG AAGGCATCATTTCAAACACTATGTCACATTAGGAAAAAGTTCCTTTCTGG TCTCGGAATCAAGAACTGTTGGTTGGGCAAAGTGGCTCACACTTGTAATC CCAGCACTCTGGTAGGCAGAGGCAGGTGGATCGCTTGAGGCCAAGGATTT GAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATGCAA AAATTAGCCGGGCGTGGTGACACGCACCTGTAGTCCCAGCTATTCG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03516.hp2 others(1): Show HG02895.hp1 HG02897.hp1 HG03516.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0011 a0001c0001t0051 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0051 a0003c0004t0016	a0001c0001t0002g0075 a0001c0001t0011g0077 a0001c0001t0051g0076 others(1): Show a0001c0001t0002g0075 a0001c0001t0011g0077 a0001c0001t0051g0076 a0003c0004t0016g0078	4	302	0.0133	-3745	c.-15 others(19): Show c.-154+2640_-154+6384del		ADD2	ENSG00000075340.23	transcript	ENST00000264436.9	protein_coding	1/15					chr2	TogoVar
FAM83F_chr22_39989954_40048534	39997536	ACAAATGC others(3732): Show ACAAATGCTAGGGCTCTGCTGGAAAGAAAAGAGTTTTTAAGGCTGAATGT GCCTAATCTGGGAAGGCTTCCTGAGGGAGGTGAGTTGCAGAATTGGAAAG GGAGAGGGTCAACTGGAATGGGCACTGTTTCAGTAAGAGAGCTTTTTGCT TCGAAAAAGCAAGGAGGTTTGATTGGCAGGTAAAAAGAGCTGTCGTGGGG GGAGGTGAGTACTGTGTGGGGCCTGGTTTGGGGACCCTAAAACTGGGCCC AAGGCAGGCAACCACCCCCAAGGAAGCAACAGTGTTGGACACTGTCTGCG CCCACCCAAGTATCAGGACCTCCGGGTCCCCACCCTTAATCACTGTCCTG CCTGTCCGCACAGCCTCTTCTTCCCGAAGACCCTGAGAAGAAGTTGGGAC AGAGAGGTTGACCCTGTTTCACAGGTGAGGAAACTGAGGCACAGAGAAGG AAAGAGACTTGCCCAGAGGTCACGTGGGCAGAGGTCACTTGGTTCTAGAA AAACCCAGCTTCTGCTCTAGGGACTGCACCTTCTGATCACTGCCTGTCCC CCACCCCCACGCCAGCCTGTCCAGCTGGCAGGCAGCCTTCCCTGGCCATT AACTTAGATCCTTCCTCCTCCCCTTTCGCCCTGAGGGAGGGAGTTTCCTT TGTTTCTAGTGAGAGTCTGGCTGCTGTGAGGCCAGGTGGGGCAGACTGAG ATGGTTTACATGCAGGGACACGGGGGAACTGCCGAGGGGAGGCAGCAGGA CATGCACACATCCAACTGTGTGCCAGAGTTTTGCATTTTATTTCATTTAA TCCTCAGAATAACCCTGTGAGGTGTTATCATTTTGATTCCTGAATCACAG ACAGGAAAGTAAGGTTCAGAAGGAGTTGCCCGTGGCTGCCGTGCCTACAG TCACAGGCCAGCGGGTGATTCTATACCTGGTACTCAGGGATATGGAGAAA GGAGCCTAATTAGGAGAACATGAATGGGGGGTGAGGGGGGAGGGGCTGAG GATGGGGACCAGTGAGGAAACAGCCCAGCAGGGGCCTTGTGGACTGGTAG GAGGGCCTTTGAGGAGGTCTGGCTGAGCGGCCTGTACCCTGGGCCTCTGC AAATGTCAGAAAGCCCTTCCCAAACCGCCATTCAGCTGTTTACTTGTGGG GCGGGGTTTTTTTCTGCTGTTTTTTTTGTTTTGTTTTGTTTTGTTTCCTT TTGAGTGATCTGCTTACCTGGGTGCCTCTGAATGAGGGACTTTGTCTACT TAAATTAGAGGCAGAAAGGGCATCTTTAGGGACCCAAAAATGATCTCCTG ACCTATGCTACGCTAACAAAGAAGACCAGGGGAAGTTGCTGATGCATGGG CTGCTCAGGTCATCGTAACTGCCCCGGAGTGGACTTACAGCAAGACCATG TGTAGACTGGGAAACTCTTGGTTCTTATTTGCAAAGCCAGAGTAAGGGGA CCAATCTGGATAGGCTGGCAACTTGGAAGGATTGTGCATCCGTTTGACCA CTGGACAAATATTTAGAGGTTTACTGCATGTGCTAAGCATACTTTAGTGG AAAGCAGATACCTAAAACACACCTCTGCTCTTAAATAGCCTAATCTTCTG CTGATCCATCATCTAATACAGTCTGAGGAGTGCTGGACAGAGGGCGTGGC GGGAGGGGCACTAGCCCAGCCCCTAAACCGGGTTAGGGAAGGCCCTTTGA TGCCGAGGACCTGTCTACAGGCATGTCGGAACACAGCAGGAAGCTGAGAT GGCACGAAGCTGTCCACCCATCTTGCGCCCAGGCTCCCTTGTGACCAGCG GCATCCAATTTTGAGGCTGCTGGGCGGATTTAGAGAACGTTGCCTTGTGC TTTGGGAACAGAGGCAAGTTTACCACATCCGCTTCTCAAAGATTGACCCT TGACCCCCGCATTCCTGGCTCACACCCAGATGAACCATTGACCCAGCTAA CCAGCTCATCTTGGTTTATCACAAACTGTCCAATCTCCTCCGCACCTCAA TAGCTGCGTAAGGCAGGGTCTTGTCTTCATTACACAGAGGCTCCCTCTGA GCTCCAAAAGGGTGAAATGACTTATCTTCAGACCAGGACAAGGAGGTTAC ACAACATCCCCAGGTCCTTGGTTGGGATTACCAGTGACGCCAGTGACCCC ATGTGGATTGTAAACACAACGTAGGAGAGGGAGGCTGCTGGAGTAGGTAA CCATGACTAACTAGGAGCTGCTTCTATTTTTATTCCTGTTGTAGTTAGTG GAAAAGGCCTGCCTGAATGGTTGAGGAAGGAGGGTAACCAGCCAGGCTGG TCCCTAACCCACCTCTGCCTGTCGATGGGTTTGTCCCTTTTCCTTCAAGG CCTGGCTAAGAGGCCACCTCTGCCTTGGCATTTTGTCAATTTAATTTTCA ATCCAGAAGGTCCACACAGTTTGCTTTGGGAGAGTGCATTTGACCCTCCT GGATTGGGAACTTTGGAAAAGAGAGACTGGCTTACTCTCTCAGTTTCCTT TCCGGTACCCGAACAGTGCTCTGACTGTCACAGGTGATCAATTATCTGTT TATAGAATTGAAAACTGTCTTCTATTGGCCGCCTGTCCCTCTGGGGAAGC AAGTGTCTGGAGATGTCCCCATGGAATTGCACATTCCCTGGGGAACTCCT TTAATCTACATCGTAACAAGCTGGCTGGCAGCAGAGAGAAGAATGCTCTA AATTGGGGATATGGGGTGCAGGGAGGGAGGTGCATCAGGGGATTTAGGGA AAGGCTCCAGAGCAGGAGGCATGGCTGGCTGAGGTTAGCAGCCTTGGTTT GAGGTCTGGGCAGCTGGTGGGAGGAGGATATGGTGAACAGCTGGGATACA GATGCCCCCGGGCATGGCAAAGTCTTGGAGTCATCAGCTCAACTCCACAA AAGACTCAGCTTTGCATATGGTGGGCCTGGCCCCTGAGTGGAGCCTACCG TCTTTCCCCATTAACTGCAAATGACGTTTCCCTCATTCAGCTACACTGGC AAACAGTACCAAGCGCCTTCTCCATACCAGGCACTTTGCTGGACATTGAG ATGCTGCAATGAAGCAGATGCCCAAAAAAACCCTAGTTTAAAAAGTATGT AATTTTTAAAAATGTTACTGGTTTTTGAATTCTGAAAGTCAAGCAATACA TTCATTAGTCACCTCACCACCTTGTTTGAGAGCTGGTCCCAATTCTTGAC TTGCTCCTAATACCTTCCTGCCTCCCTCTTTTCTCCCATTATCCTCCTCC CCTTCCATCTAAGGGGGACAATTGACTTTATCTAGAAGCTCGTAAGCTGC CTTTTAAAAGCCTGATTTAAATTCACAGAGCAAGAAGGGCCTCTCAGGCA GCCCAGGGACCCACAGGCCCCATGCACTCCTAATCGTTCCACCCTTCTGC AAGTGGCCATGCCACATGAGCTTTGTTTCAGAGGCACTGGGCAGTTCAGA GTCCTTGCTGCATTAAGGCTGGTGGATAATGGCACAGCTGCAGCTCCAGA GAATAAGCACTTAGCCTTTCTGGGATCTTGCCCCGGCCTGTCCAGGTATT CCTGGCAAGCCCTGGACGAATTGGCTATTGGGTTCTGAGTCTTTCTCTTT TATGCTTGATCAATGATCCCAGGAGCTGGCATTTCTGAGCAATGGACCAG CTTCATGTCAAAAACAGAAGACAGACTCTGAAGTTGAAAGGTCTTGATTT CTGCCCTCATCTGACCACTTACTCACTGTGTTCCCTTGAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	234	0.0043	-3739	c.489 others(17): Show c.489+2011_489+5749del		FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr22	TogoVar
LILRB3_chr19_54211278_54228007	54224269	AAACAGTT others(3731): Show AAACAGTTCCTCACATTGAGACGCATCCCCTTCCATGAGCAGAGTTCAAT GCTGAGTGGCCACAGGTGTCTGGGACCACCGAGCGTCATTAGGGAGGAGG AGGCTCCCACCTCCATGTGGGACAGAAGAGGAACCCCACGTCCTCCCAGG CAGGGAGGGGTCAGGGCTCTGGGTGAGGCTGGAAGCGGTGGCTCCCCCTC CCCTGTGTGTGTGGACAGGCGCTGGGGGGTCTCTGCTCACTCACTGGAGG CCACGGTCAGCGCTCAGCCCCTCCCCTGTGTGTGAGAAACAGATTCGATC CACGGTGGTCAGACATGGGCGTCTGCCCCACAGGTGAGTGTGAGGCTGGC GTTGGTCCCATCGCTGCTGGGCACAATCTTGAGCTGACACTGAGTTTGGG GGAGTGGGGCAGGAGCAGCGGCAACAATCCCCTTCATCAGGCTGATGCCT GGACAGCCGTGGGAGAAACCCTTTATGAAAGGCCAGGTGCGTGGGAGGAG CCGCCCCACAGGAATGACAACCGTATGAGGACAAAATAGACAGTTGTTGA AATGCATTAGACAGACATCGTGAAGGTGAAAAACTATATTAAATTAACGC CATTAAAAAGGAATTTATGTCTGGGCATGGTAGTTCATGCCTGTAATCCC AGCACTTTGGGAGGTGGAGGCGGGCAGATCACTTGAGGCTAGGAGTTCGA GACCAGCCTGGGTGACATGGTGAAACCCCATCTCTACTAAAAATACAAAA AATTATCTGGGCGTGGTGGTGAGTGCCTGTAATCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCTCTTGAACCTGGAAGATGGAGGCTGCTGTGTGCT GAGATTGCGCCCCTGTACTTCAGCTGGGACAACAGGAGCGAAACTGTGTC TCAAAAAAAAAAGCAATTTACTAACCATATATACCTACTATGCAAACATA ACAAAATCAAAGCATAATTTAATCCAGGGCAAGACAGCTGAAATAATAAA TATATACATTGGGATAAAATATTCATGAAATTTTCCAGACTGTATCATGG AAAGAACAGAAATTGAACAATAGAAAATATTGATATATACACGAAGTTGA ATGAGAAGAAAGAACGTGTCTGTCACGGTTTCAGAATGAAAGAAGGAAGA AGGATGTTAGTTCATGATATGCATGAAGAGCTAATGGTTGAAATTTTTAC AGAACTGAAGAGAAAACATCAGTTTATAACTAAATTGAATATCTCGATCA TGGTAAAGTGAAAACCATGAGGCATTAATTTAAAATAATCATAAAACTAC CAGAGAAAATGTAAATTACCCTTGAATGAATGACAAGTTCATCGGGACTG GAGTTCCAAAGAGCAAACAGCAGCCCCAGAAGATACAGGAGAAACAACCA CAAGCGTTTAACTGTGAGGAGAGAGTTCCTGTGCTGGGCCTAATTATTAC TATTATAATTATTTATTATTATTATTATTATTATCTTTTGAGATGCAATT TCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACCG CAACCTGGCCTAGTTATTATTAAAGGACCGAGTTGCAGTGTCAGCTGTGG ATAAATCCTAGAACATAAGGAGACTCGGGGCACTCGTGACCCGTCAGGTC AGGCGGTGGCCTTATGAGGAATAAGGAGGGCGTTTTCAGTGTCCTTTTAT CAGGTACTATGATAACAACAGAGAAAGAGAGAGATTGAGACAGACAGAGA GAGACGGAGAGACAGAGAGAGATTGAGACAGAGAGAGAGAGGGAGAGGGA GACACACACACACACACACGGAGAGAGACAGAGACAGAGAAGCAGGCATC GCTTGAGCTGCAAGGCTGCAGACATGTTTGCATCTGGGCTCTTTCTGAAA GCAATACTAAACAATGTAAATCAGGGAGTGGAATAATGAACCCCAAATGG AGAAGATGAGATGCTACTGTGAATAAGTCAACAGTACATACAAAAAACGA ATAAGCATAGATCTATCTGTAATCTGTGTATATACAAGTATATGCATTTC TACTAAGAATCTGAAAGAGCAAGGAAATGGATTCGCGTCTCTGGAGCCTC CAGAAAGGAATGCAGCCACGTTATGGCCTTGATTTTGTCCTAAAAGACTG TGAGATAATGAGTTTGTGTTGCTGAAGCTGCTCAATACGTGTAATTTGTT ATGGCAGCAATAGCAAACCAATACTAACACAAACAGCCTTTGAAAAGAAA AATAGATGATATTTCACACTTTTATTTATTTATTTATTTATTTTATTTTA TTTTGAGACGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTGCCGGGTTCACACCATTCTCCTGG CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCGGC TAATTTTTTACTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATC TCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGCGATTAC AGGCGTGAGCCACCACGCCCGGATATTTCATACTTTTAAATCAGCAATCT GTGAAGAAGAGAAAGTTATACACTTTCACTCAACCAACCACATGTCCTTA AAATTTACAAAGCATCAATTGAGACACAGTGGAGGATTTGAAGAAATATT GATCAGACTTTGATAGATTAAGTGAACAAAATATTCGTGAGGGTTGCATG GCACAAATGTTCAATCTCATGCGCAAATATGATGTTTCGATTGTTTATAT ATTATGTAAATTTGTATAGAAACGTTTCTGGAATATACATATAGCAACAA AGTGGGAATGCATATTTCTTTATATATATTTTTTTGAAACAAGGTCTCTC TCTGTTGCTCCATCTGAAGTACAATGGCACTATCCCAGCTCACTGCAGCC TCGACCTCCTGAGGCCTAGGTGATTCTGCCACAACCATTTCCTGAGTAGC TGGGACTACAGGATCATGCCACCTTGCCTGGCTAAATTTTTTTAATATGT ATTTTTTTGTAGAGACGAGGTTTCGCTATGTTGCCCAGGCTGGTGTCAAA CTCCTGGGCTCACGGGATCTGCCCACCTTGGCCTTCCAAAGTGTTGGGAT TACTGGTGTGAGCCACTGTGCGAGGCCAGGAATACTTATTTATGAAAACA TATTGATCAGAAATATCTATCTTTTTTTTTTTTTTGAAACGAAGTGTAGC TCTGTCGCCAGGCTGGAGTGCAGTGGCACGAACTCGGCTCACGGCAATCT CCACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGGCTTGTGAGTAGCTA GAATTACAGGCGTGCGCCGCCACACCCAGCTAATTTTTTTGTATTTTTAG TAGAGACGGGATTTCACCATATTGGCCCAGATGGTCTCGGTCTCCTGACT TCTTGATCTACCCGCCTTAGCTTCCCAAAGTGGTGGGATTACAGGTGAGA GCCACTGTGCCCAGCCGTCTCTATCATTTTTACACAGCAAAGTAAGCATC CAAACTGTTACTACAGGTAACGTTTCCTGATTAGAAGTTCAATTAAATTA GCAGCCAACAATAAGAAGACATTTAGAGAAAAAGCAATACTTTGGAAACA AATAACATTCTAAATATTCATGGGTTATAGGCTGGATGTGGTGGCTCATG CCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0050 a0050	a0050c0064 a0050c0064	a0050c0064t0003 a0050c0064t0003	a0050c0064t0003g0073 a0050c0064t0003g0073	1	455	0.0022	-3738	c.-50 others(11): Show c.-5031_-1294del		LILRB3	ENSG00000204577.12	transcript	ENST00000445347.2	protein_coding				1263		chr19	TogoVar
FRMD8_chr11_65381637_65418525	65414789	GCTACAAG others(3729): Show GCTACAAGTCCAAAATCCAGGTTTCAGCTCAGCAGGGCCGTGCTCCCTCT GCAACCCATAGGAGAGGCCTTCCTTGCCTGCTCCTAGCTTCTGGTGCCTT GCTGGCCGTTCAGGCATTCATTGGCTTGCGGCTGCACAGCCAGTCTCTGC CTATGTGGTCATCTGGCATCTTCCTTAGTGTCTGTGTCTTCACATGGCTG TGTTCTTACAAAGACACCAGTCAGATTAGACTAGGGGCCCACCCTACTCC ACCATGAGCTCATCTTAACTAATAACACCTGCAATGATCCTGTTCCCACA TCATGTCACATTCTGATGCACTGAGGGTTAGGACTTCGACATATCCTTTT GGGGGAACACGATTTAACCCTTACCACTACCCTACAGATGATTGTCTTGG ACTTCTTTGGGGTTCTTTAATGCCGGAACAGCTGTTATTTTCAAATCCTA GCTACGCTTGGGTTGCACGGGGCAGCAGGAGTGACTTTGCCACCTGCCAG CCTGGCACGCACAGCCTGGCTCAGCCAGCACCTGGATCCAGAGGCCTGAA GACCTGAAGAGGCTCTGCCCAGACTGCCCCTGAGGACAGTGCAGTGGGAC GAGGTCTTCACAGTCCCCAGTCCCCAGACTCTCCCTAACTCTTCAGAATG CAGGAAGCAGAGGTGACCAGAACAGTCAACACATGCGATCCTACTGTCCC TTCTGAGGCTGGGGTTTCCAGGTCATTCTCCACTTACAGCAGCAGCTGGG GCATTCCTGCGGGCTTCCCAACCCGGGGCTAGCTGGACACAGGAGGCTCC AGCCACAACCAGAGCCCAGCAAGAGGCTTGCGCAGACCCACAGCTGAGGC TTCATGTGGCCAGCCCCCAGCCAAGTGGCAGTGCATGGAGAGACACACGG GAGGCCAGAGGTGCTGCTGGGACTCAGAAAAGCCACAGCGACCAAGGCGA CCCAGGACGCTGTCATGCTCAGTCTGAAAAAACAGTGGTGCAAGGGGCAC AGATAAAGCTGGGAAGGAGAGGGCTGGGGTGGATGTGCCAGGGGCCTCTG ACACTTGTCAGGGAGCAGGAGTTCCAACTGCTCCCCGCACACAGGGTTGC AGGATTAGCAACAGAGTTACCCATGGAGACATCAGCTCAGAGTCCAGGCA GCTTTTCAGATGACACCGGGGATAAGAACATAAAGACCAGGAAAATGGGT CACTTTGCACACACATGATGCCCCAACAGATGTGCAGGCCACCACCCAAC ACAAAGACAGACAATAGACTGGGAGGGGGAGCAGTGATCAAACAAGGCTT CCTGGAGGAGGGGGCCTGACAGGCTCAGTAGGATACAGGTAAATGCAGCA AAGAGAGAGGGCATGGGATGGAGCAGGGACAGTCAACCAAAGCCTGTGAC TTTGAGCCTAAGGGACACTGACAGTGCTGACCCAAAGGAGGTGCAGGCCT CGGGACAGATTCTCATCGCTCATTCTTCTCCTTTGTGCAGAGGACTTTTA GAGCTACCTGGCATTTTTCTCCCTGTCCAAATCCACCCCACATTTCAAAG AAAGTAGGCAGACTACCCAACTTCACCCAGAATGGGGGTGCAGGGCTGGG CCTGGGTCTGAGGACTTCAGTTTTAAGCAGCAAGTCCAGTGCCGTGTGGT GGCCCGGCTCCTCTCGCCCCCACTGGGCGGACAGCGTGGGTGGGGCGGAG CCTACTCCCATCTGCAGGTTGCTGGTTCGGCTGCGGCCAGCAGGGGGCAG CTGAGCTCACCCTTTCCTCCTGCCGGGCTGCAGGGACAGTGACAGTGAGC AGCACTGCCCGCCCAGGCAACCTGGAACCAGGGTCGTGCCCCACGACAGA ATCTCGGGGGCCTTGGGTCTGGCGCTGCGGGCTCACCCGCTCTCAGAGTG GGAGTCCTGGCTCCTGACTGCCCTGACCTTCTTCCTGCCACTGGGCCCAT GATGGGGGTCCCCAACTTTCAAGAACACAGGGTAAGGGGTTTGTTTCCCT GGTGGTGGGCGGGGGCATTCCTCAGCTTCGTGATGGGTCCTGAGTTTTCC AAAGGTCAGGATCCATGTCCTGGAAACGGATTCTGCTGTAGATGTGTGCT TTTCTGTGAAATGACAGCTTAGTAAAAATACTTAAACTGGGGCTATTTGG AGACATCTAAGAGGTGGAGTGAGCACAACCTGGCACTAGTCGCCTCCCTC CTGAGGCAGTTGACTGTCCGGCCTCTGCCCCTGGGCCCTTCCTCCTTCCC AGCTGCCCTGAGCCCTCTTCCAGCACCTCCTGTCCCCACCTCACACACTA AGTCTTCCTGCTATTTTTAACTATTTGACATAATTTGCAAAAGAGAGAAT AATAGTCCCAGCTCTTCCCAAGGACTTCTTTGTCCGGTGCCCATCTGACC TTGGCACTTTGTTGTGGGGGTGGCAGTGACCCTGACAAGTTCTCCCAGCC AGCGAGAGCACAGGCCTCCCATACAGTATCGTCAAGGTCAGCAGCCTCCC GGGCAGGGGGGTTCTACTCCCCGCAGAAGCCCTGGCACCATGGCCAACTT GCTCACAGAGGGCACTCAGTCAGACCAAGGTGGGTTGGGGCAGAAAAGGC TCCTTCAGAGATTCAAGGACAGTCACAACTGGTGCTGTGATGGGGCCACC GGGACAAGCACAGTGCAGGCCATTCCCATCAGCAGGGACCCAAGAGGAAG TGGTAGGCTCTGGCAGTGGGGGCGGCTGGCGGTCCTGAAGACAGAGGGCT TTGCAAACCTAGGGGTGGAGGTAGTGGGATGTCAGCACCTGGGCTCCCTG CTCAGAGGAGCTGGCGCCAGGATTCCCAGTGGGTGGGCTTGGGGAGGAGG CTGGAAAGGTTAGCACAGGCGAAAGTGTGGGGCCTAGGAAAGCTGGGCTC GCTTATTTGGCCAAGGAGGGTGGGGAGGGTTGGAGGAGGTCTAGGGGCCG CTGGAGGTGCAGGGCAGCCCGGGGAGGCAGGGCTATGGGGCCCAGCCACG CATTCCACAGGCCTTCTCTCTGCGGGAACAGGAGTGAGGACACAGGCGCT CAGCGTGGCAGGGTGGGAACAGGAAGGTCTCGTGAGCTCTGTGACAGGAT GGGGCTACAGGAGACAGAGGTAGCAGTGAGCTGGTGAAGAGGCAGGAGGA GGCAAGGAGGACAGGGTGTTCTAGGGTGCCAGCTCAGGCAAGGCTCCAAG GAGTGGGTGAGTGCTCAGGAGGACGGGGGACCAAGGCCTGGGGTAAGGGG CAGGTGCCCAGGCACTCTAGCATGGCACGGAACAGGGGACAGTCCCAGGA CATCCGGATGCAGGGGGCTGACACCGCAAAGTTCTTTCCTGTAAAGCACA GCCCGAGGCCTGGGGCTTGGCCCTGGGCAGAGGAAGCCCCCCTTAGATCT GCCTTGGCAGTAGTGAGGAAAGGGCGTGCACAGACCCCACGCAGCCCGAG GTGACGGGTCAAATGCAAGAGTGAGAAGCCCCCTCCTGAGGGTCCTCCCC TGCCTCGCCTTCCTGGTGGGCGGCCTGCTTTCCAGCACATGTGGTGGACC AGCCCACATTAGGTCAAAGTGTTAAAAATAGCCGGAGGGCTCAGTATGTT TGGGGGTGGGGGGGGAATGGGAGGTGCTGAGGGAGGGCCCAGGACAGTTG GGAAGGAGGAAGGGCCCGTGGGGCTGGGGTTGGGACAGTCGGCTCCTGTA GGTGCAGCAGCCCTGGGGCATGCTCACCTCACCTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0194 a0001c0003t0001g0194	1	366	0.0027	-3736	c.34 others(11): Show c.3430_*7165del		FRMD8	ENSG00000126391.14	transcript	ENST00000317568.10	protein_coding				1265		chr11	TogoVar
MAP7_chr6_136337734_136555422	136496381	GTGAAAAC others(3727): Show GTGAAAACTACATGGAGTTAACACTCAACAAACAATGGGGAAAAAGTGTA AACATTTGTCAATGTCATGTTTCTCTGGTTCTCTTTTTCTTTTTACTTAA GATACTATTCCACAAGATCCTATCAATTTTCATACACCATTATACATATA TACTTACCAGTACTGGTAGTCCCCTACATGTGAACATGGCATTTAACTGG CATTTAAAAATATTTCCCCAACAGAAACAATATTACATATGTTAACTTGG CTCCTAGGCTGACCAAAGTCCATTTGAGGCCAGGTGCAGTAGCTCACACC TGTAATTCCAGCACTTTGGGAGGCTGAGGAGGGTGGATCTCTTGAGGGCA GGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCGTCTCTACTAAA AAAAAAAAAAAAAAAAAAAAAAAATTAGCTAGGAGTGGTGGCACATGCCT GTAATTCCAGCTACTCGGGAGGCTGAGGCAGAAGAATTGCTTGAGCCCAG GAGGTGGAGGCTGCAGTAAGCGGAGATCGCGCCACTGCACTCCAACCTGG GCAACAGGGCGAGACTCCATCTCAAAAAAAAAAATAAATGAATAAAATAA AGCCCATTTGATCCATAACCTAACCTATAACGTAAAGTACTGCTTTCTGT GCCATCATGTAGTGATATTTCCCTGGGCCAGAGTTTCAACCTGAGCTGCC AGGAACATATCTCTCTCTTGCTGTATGAGGACAGAGCTTCTCCTAACTCC AAAGCAGCAGTGATGGCTGTCAGAACCTTGGGGGTAAGAAGAGAAGGCCA ACTCCCAAAAGGAAGGAATTGTAGAATGACTGGCTTATTTAGGAACCCCT TTTTTGGTTCCTAAATAAGATGGCTACAAGATGAAAAGCTACAGGCCTCC CCAATATTTTTGCCCACAAGAAAATTCCTAGTGAGCTGCAAGATCTTTAA GGTGTTTTTGTTAAAATTTCACCACCGCAGTGTAAATTGGTAGTTTATCT TTGCAGGTGCAGCCACCTCCCCACACCACCCACCAGATGCAAATGCAATC TGATTGTTCCCCTGCCCCATTTTGTCTTTGTTATCTTATGTAAAATGCAT ATTCCCTGCATTTTTCCTCTACCCCATGTCTATGTCATCTTACTTAAAAA AAAAAAAAATGCAGATCCCAGCACTTTGGGAGGCTGAAGGTGGGCAGATC ACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACATCTGTAAT CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGT GGATGCTGCAGTGAGCCGAGATCGTGCCACTGCACTCAGCCTGGGTGACA GAGCCAGACTCTGTCACAAAAAAAAAAAAAAAAAAAAAAGAAAGCAGATT CACTGAGCCAGACAAAGGCATGAATGACTGTTTTTCCCTAGCCCCTCTCT TACATGAAAATTGTGTACTTCTCAATATACCACCCTTTCCCCTTTAAATT TGGAGCCCTCAAAATCATCTTTGGAGAAAGGCATTAGACCTGACTCCTGA CCACATATCCTTAACTTTGACAAATAAACCTCCTAAAATGATGGAGACTT GTTATTTTTCTCAACTGACAAAGGTGAGAGACTTTATCCTTTTCTTAGGT CATGTGTCCTTTTGAGAAGATGATGAAAGCTACACCTTTTCCCCAGAAAA ATGCACATTAGGACATACACATATACTTGATAATTTGTGGACCCCAAAAG TTTTAGGGATCCCTCTTCAGATACAAAGAAAGAATCCTATATTTAGATTT GCACACTGTAAAGTTAAACCCATCTGCCTTTTAGAGGAACACTTAAAAAC TGTGATGTTCATCATCAGCATGATGATAGGATAGGAGTAGAGGGAATAGG GCCCGTACATAGAGTAGCACAAGTAACTGAGGACACTGGGAACACCAGGA CCTGCCCGATTCATGGATAGGAAGGGAGATGAAAGGAGAAACAGTCACAA ATTTATGTACTTTTCTTTCCAACTGACTTTGGACAAGACAGTGCAGACGC TGGTTCTAAAATGAAATGAAAACCAGAAGTCTCTGTGAGTTGAGACTCAG GTGTTCACATGCACCTGTGTCTAAGGGAACATGCTTATCTGTGCAGAGGA AATGGATTGAGAATGTTTGGTGGTTAGAGGGAGATGAAAGGTAGAGTCCC AAACATCACCTAAGAGTTTGGAAAAATGGAAGATGGAGGAGATGAAAGAC TGTGTGAACCAAGAGATCCCACAAGCCATTCGGTCACAGGTGGCTTGGGC AATTGTACCTATATGGCAATGTGTGTGTGTGTGTGTGTGTGTGGAAAACC CAACGAAGTTGACTTAAATAATAAAGAAATTTATAGGCATTCACAACTGA CAGGCCCAAAAGTAGAAAAGGCTTCAGTTTGATCTGAAAGTTCAGGAAGT CATTAGGATACTAGCTCCATTTCGCTGAGATTTTTTGGGTTTTGTTGAGA CATAGTTTCACTCTGTCACCCAGACTGGAGTGCAGTGGCATGATTTCAGC TCACTGCAACCTCTGCCTTCCAGGTTCAAGAGATTCTCGTGCCTCTGCCC CCCAGGTAACCCCCAGGTAGCTGGGATTACAAGTACGCACCACTACGCCC TGCTAATTTTTGTATTATTAGTAGACATGGGGTTTCACCATGTTGGCCAG GCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCATAAGCCATCCTGTCCGGCCTGAGATTTCTT AGCTCTGGCCTCCTCTTTGGGCTAGCAGCCCTGAGGCTCTGTGACTTTTT CACTTCCAAGGAGAAAAAGAACCCACCCACCTCCTCTGAACACATGATTT ACAAGTGCCAATAGTTTCATTTATTGTTCACAATCCTAACTAATATGGGG CTTCATGCGATAACCCCAAGGTAAGTACTGTTATCACCATTTTACAGGGT TTGAGAAAAACAAGACTCAGAGGTTAGGTAACGGTGCCTAGTTACACAGC TGATGACAGTAACAGCCTGAAGCCAATGCAGAGCCCTCCAATTCCACAAC TGATGCCCTTGATCACTCCACTACTTATCTCTCCAGACAGAGAAAGAGCT AAGACAGGGGTCAACAAGCCTAATCTATAAAGTGTCAGACAGGAAATACT TTAGGCTTCCGGGCCACAAGTATGTTGTACATTCTTCTCTGTGTTTTGTT TTTACAAACCTTTTACAGTTTTAAAAAACCCTGAATGGCCAGGTGCAGTG GCTCACAGCTGTAATCCCAGGACTTTGGGAGGCCTAGGCAGGAGGATTGC TTGAGTCCAGGAGTTCCAGACCAGCCTGGCCGACATAGGGAGCTCTCATC TCTACAAAAATTAAAATGAGCTGGGCATGGTGGCACATGCCTATAGTCCT AGCTATTCAGGAGGCTGAAGCGGGAGAACTGCTTGAGCCTGGGAGGTCAA GCTGGCAGTGAGCCATGATCACACTACTGCACTCTAGCCTGGGTGACAGA GAGAGACCCTTTCTCAAAAACAAACAAACAAACAAAAACAGTTGAGTGGA CTTTTGAGTCAGACAGACCTGTATTCTAGTTCAGACTCCAGCACTTCCTA GTTGTGTGATTCTGAGCAAGTTACTTAACCTCTTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG03041.hp1 others(1): Show HG02280.hp1 HG02622.hp2 HG03041.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0013 a0006c0006t0006 a0001c0001t0013 a0006c0006t0006	a0001c0001t0013g0179 a0006c0006t0006g0180 a0006c0006t0006g0181 others(1): Show a0001c0001t0013g0179 a0006c0006t0006g0180 a0006c0006t0006g0181 a0006c0006t0006g0182	4	248	0.0161	-3734	c.67+ others(17): Show c.67+50227_67+53960del		MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17					chr6	TogoVar
DLGAP2_chr8_732628_1713476	1013733	CTGTGTGT others(3725): Show CTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGG ACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCAC TGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACA GACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGT GTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGAT GCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGA CCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGCGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCA GGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCC ACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAG GACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACT GTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGAC AGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGT GAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGA CGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTG TGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTC CATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACA GACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGT GTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGAC GACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTG TGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCC TCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCA GGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTG TGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATG CCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGC CTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCC TCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCAC TGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACA GACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGA CAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGAC AGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGA CGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGT GTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGA TGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCT CCACTGTGTGTATGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCAC TGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGA CAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGAC GGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG AGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGAC GCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGA CAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGT GACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAG GACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCA CTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGAC AGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTG TGTGTATGACCAGGACAGACGGTGCCTCCACTG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	40	0.0250	-3732	c.73+ others(19): Show c.73+105776_73+109507del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
ENTPD3_chr3_40382184_40433744	40397267	CTGAACAG others(3724): Show CTGAACAGTCATGCCATTACACTTGGTTTCCTTGGAGCTCAGTGAAAACA TCATGGCTATGATTACTGAACAGTCATGCCATTACACTTGGTTTCCTTGG AGCTCAGTGAAAACATCATGGCTATGAGTACAGGTTTTAGAGTCCGTTAG ACTCAGGCTTGATCCCAGGTCTGTGATCTTGGGCATTTACTTACTACTGT AAGCCTCGGTTTGCCCATGTGTCGAATGGTATGATATGATATGATATGAT ATGATAACATATGTCTTATACAGGCAATAACACAAAGCACTTTCTGCAGT GCCTAGAATAAGTGCAGGACAAGGCTTATTACTACTACTATTTATTATCA TAGTAATAATGATAATAATAATAAACAAATCTAAGAAAGTTGACCTTATG CTTCTGCTTTCGCTATTGCTTTAGACAGATCACACAATCCTTAAGTGTTG GACCAAGGAGACTGGCCCTTTCAGTTAACATTAATTGCATTCACTGTTAG ATACAGAGTAATTTAACCAGTTTCCTTATTCTATACATTTCTAAACTGAA AGACTGCTTCCTTTCAGTTAATCCACTGTGTCTTCAGATCCACATTTGAG CCATGGTTTTTTCTGACACTGCATTAGACAGAGGATTACTTACTACTTTT TATCCGAACATCACCTTGCCAGCTGAACTGAAATTCATTCCCATCCCCTC TCCCCCAAAAGAATCACACTGAGTTTCACTGTTTAGGCAAAAGAGCTCTG AAAACTGGTTAAAGACCATTTTTCCCACTTTTGAAAATGTCAGTGAATGA TGGTAGGGCTAGATCCGTGTGAGTCGGTAGAGGTGGGCCTATATCAGCAG GTGCCGGAGGGACAGCCATTTCTCCAGTCTCACAGAGCAAAGTCTGGCTG CTGCAGACCCTGGTGAAAGCTGGATCCCAGTTGGAGTTACAAATGAGAAT GGATACTCTTCTCTCTGATCTTGGCCCAGCAGCCCTGAGCTTCAGAAACA CAGGAAAAACATGCACCCTTTTTGAAGGGTTGGAATAAAGATTTGAGGAA AGGAAGGTGACAGTTTTTCTCCTATTCTCTCTCTCCTCTTGTTTTATGGT TCAGCACCAGGCGTGGCAGGGCGGGCTGGAGTGGTGGTGATCAGGTCAGG AGCAGGGGGGAGGAAAGAAAGCAGACCAAGAATATAGAGGCCTGGACCTC TTTAGTTTAGTGCCTGGTTTCCTTCTTGCCTTCAGTTTCAACCTGTACTT TAATCTCCCTGTGAGTCGCTGCCTGTGACAGATTATGAACAATGCCACCC TTGTTCCCCATGAGGGATGTCAGGTCAGGATCCTGATCAACATTCATCAT ACTGAAGGGCTGAGATTAAGAGGCTGTCCAAGTTCACATACCAGTGAACA CAGATGTTCTATTTCAAAATAATGGAGAGGCTATGATTCAGGAGCTGGAG CAACTTTTTAAAAATATGGTCCCATTTCAAACAAAACAAGCATTTGTAAT ATAGATAATAAAAAGTTGGAAACCTCCTAAATGTATAGGATCAGGAAATT GGTTAAATTACTCTGTACCTAAAAGTGAATACAATGAATGTATGAAAATG GTGATATCAATCTGTTTCTACTGTCAGGAAGACATGTTCATGATATACTT TTAAGAAAAGAGCATTGCATGGCCAGATGCGGTAGCTCATCCCTGTAATA CCAGCAGCATTTTGGGAGGCGGAGGTGGGTGAATCACTTGAGCCCAGGAG TTCGAGACCAGGCTGGGAAACATGGCGAAACCCTGTCTTTACAAAAAATA TAAAAATTAGCCAGGTGTGATGGTGCACACCTGTAATCCCAGCTACTCGA AAAGCTGGGGCTGAGAATCGATTGAGCCTGAGAAGTTGAGGCTGCAGTGA GTCGTTGGTGGCACCACTGCATATATACAATGATATATGTATATATCCAG ATACATATATACATATATTGTTAGAAAAGATACAACAAGGGCTAACGCAA TAGTTGGATTTGAGGGATGCTTTGTTTTCTTTTCTGTTTTTCTTGTTTTG TGATTTTATTTGTTTCTTTTGCTTGACTGGCTTTTCTATATATGCTAATA GCCTGTATTTATGAGTAGCCATTAAGCATTAGGCATATAGCCTTCTATTT ACTTCTGCAAGTAAGTCCTCTAAAGATGAGGGAACCCAGAAAGGTTAGGC AACTTACCCAGTCCAGCATCATAAAATCGAGAATCCATCTGAGTCAGCTT GCCTCCAGACCCAACTTCATCATCTTCTGTGGGACAGGCTAGGTTAACCC AAAGGTGGTGCGGTGGGAGACTTCAGGCCACCCTGAAGGCCTCTGGATGC CCTAGGATGACTCTGAGCACAAACAGATACGGGGCTTAGGTATGCATTGC TAATTCCAAATTCTATAGGCTACTAATACATGCTCTTTCCTGGTCAGGTT TGGTCCAGAGCCTGGGCTGGGCCAAACCTGCAGGTGAAACTTTCTAGTGC CTGCTCAAGTTGGACAAATTGGTCCAGGACTCTCAGCCTACTCTCCTGCA CACAGCCAGCCCCAGCACTGCCCAGCAACACCTGCCTGTTCATTTGTTGA CATACACATTGCCAAAGTGTGATCAATATGTCAATATTATTTTTTTATTT TGCTTTTTTTCTCCTTAATTATGAATACTTTAATTCTGAGCACTGATACA GGTATTAACATGCCTCAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCGGGAGTTTGAGA CCAGCCTGCCCAACATGGTGAAACCTTATCTCTACTAAAAACACAAAAAT TAGCCAGGGATGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGTTTGCAGTGAGCTGAG ATCGTGCCACTGCAATCCAGCCTGGGTGATAAGAGTGAACTGCATCTCAA AAAAAAAAAAAAAAAGAAAAAAGGAAATGCCTCTACCCTGTGAAAAACTT CTTATAACTTCTTCCTATGCTTTTATTTTGGTTGTTTATTTTTAGACTGA TAAGCCTAGAAGTTTGGAAATAGAGGGCATCCAGGTGACTATTCATTTTC CGTCTGAGACGAAGATGGCTTTTGTACCTCTCCCCAGAGGTCTGAATGAG GAAGAATCAGGCAACTCAATTGTATGCAAGATCCATCATGAAGTACAATT CTCAACCTTGGCTGAGTGTTGGACTCACCTGGGACTTTTAAAACCTGTTG ATGCCTGAGTCCACTCTCAGAGATTCTGATTTAATTGGTATGGGGTGTAG ACTTGGCATTGGGGGATTTTTTAAGCTCTCCAGGTGATTCTAATGCATTG CAAAGTGATAATTATTTCCTAGAACCTGCCCTACCTTTCCTCATTCCCTT CCCTCACAATCCAAGGAGACAAAATTGGTTTGGAGAAAATAATTTTTCTT ATTGATTAGCCCTTCCCTAAGCGAAGCAGTGTGGATTAAGGTACTCAGGG TTCTCAGTGGCCCACTGAGAAAGCAGTCCTCAGAGGAGTCCCGCCCATTC TGACTCTCCCTTTCCCTTTTTATTCAGTATGGTATTGTGCTGGATGCCGG GTCTTCAAGAACCACAGTCTACGTGTATCAATGGCCAGCAGAAAAAGAGA ATAATACCGGAGTGGTCAGTCAAACCTTCAAA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03516.hp2 HG03516.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0230 a0007c0015t0001g0230	1	374	0.0027	-3731	c.169 others(12): Show c.169-3624_275del	p.Tyr others(4): Show p.Tyr57fs	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding	4/11	169/1590	57/529		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1013758	TGCCTCCA others(3723): Show TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTG TGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGC CTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCC ACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGA CAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGT GTGTGTGACCAGGACAGACGATGCCTCCACTGCGTGAGACCAGGACAGAC GATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTG TGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGA GACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTG ACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCA TTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGG ACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGT GTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGAC GACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGC CTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGTGA CCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTC CACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACT GTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAG ACGGCGCCTCCACTGTGTGAGACCAGGACAGACGGCGCCTCCACTGTGTG TGTGACCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCC TCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGAC CAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCA CTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTG TGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTATGACCAGGACA GACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGT GTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTG TGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGAT GCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACC AGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTC CACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACG ACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATG CCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTATGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAG GACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCA CTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTATGACCAGGACAGA CGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG TGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGAC GCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCA GGACAGACGATGCCTCCACTGTGTGAGACCAGGACAGACGGCGCCTCCAC TGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACA GACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGT GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGC GCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCA GGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCC ACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAGGA CAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCGGGAC AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTG TGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGA CGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGT GTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGA CGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTG ACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGACGGTGC CTCCACTGTGTGTGTGACCAGGACAGACGGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	-3730	c.73+ others(19): Show c.73+105824_73+109553del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
IL3RA_chrX_1331785_1387689	1369935	CTGCCCAC others(3720): Show CTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAAT CAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCA GCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACAC ACACAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAA GCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCT CAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAGTGTTTTGTTTCTAAG CCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCA TCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGT GAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAG GAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGG CTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTAT TCTGTGACAGCAGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGA TGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAA GACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGC CCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAAT GTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCT GAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACAG AGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCATCTCCAAGCCC AGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGA CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATC TCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTG TGAGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCA GGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGG GCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTA TTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACG AGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAG ACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCC CACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATG TGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTG AGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACA GAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCA GGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGAA CTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCG CCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCT CATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGACGACCCTGT GGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGG AGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGC TGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATT CTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGAT GAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAG ACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCC CACACCTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATG TGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTG AGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACAC ACAGAGGGACGACCCTGTGAGGACACAGGGAGAAGACGGCGTCTCCAAGC CCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCA GACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAG CCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCA TCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGT GAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAG GAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGG CTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTAT TCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGA GGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGA CGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCC ACACCTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGAGAATCAATGT GTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGA GATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACA CAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCC AGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGA CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATC TCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTG TGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAG GAGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGG CTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTAT TCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACA TGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGAAGACG GGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCAC ACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGT TTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGA TGGACTAAGACATCTCATAAGAAGAGGACATGAGGACACAGACACACACA GAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCA GGAGAGAGGCCTCAGGAGGAACCAGCCT	C C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	115	0.0087	-3727	c.874 others(17): Show c.874+4800_875-4881del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11				INFO_REALIGN_3_PRIME	chrX	TogoVar
ALK_chr2_29187774_29926586	29418797	TGCATTGG others(3719): Show TGCATTGGGTGGTATAGGAAAATAGAGATAAAGGCTAAGAAAATGTACAT CCAGAATTAATACATTAATTTGTTGATCACTCATTCACTTATATATTCAT TCATCATTGAAAAATTATTTTTAAAGTGTGCATAATATGCAAAGCAGTGG GCTTTATAAGTGAGAGGGTATGGTAGAAATATAAAAAATACATAGTCTGT GCTCTCAATAATCCTATATTCTTGTGCGGAAGACAAGGTATTTTATTTTA TTTTTTATTTTACTTTATTTTATTGTGAGACAGTGTCTCACTCTGTTGCC CAGGCTTGGGTGCAGTAGTGCAAACTCAGCTTACTGCAACCTCCGCCTCC CGTGTTCAAGTGATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTACA GGTACATGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACCATGTTGGCCAGTCTGGTCTCGAACTCCTGACCTCAAGTGACC ACCCACCTCGGCTTCCCAAAGCGCTGGGATTACAGGCATGAGCCACCGCA ACTGGCCAAGATGGTCATTTCCCCATGTGCTTATAATACAAGGAGTTCCC AAACAAGAGTTACCAGTAAAGCCTTCATGACCTTGCAGCATGACTTGGAA TGTGTTAAACAGAGATGGGAGGTGAGGTCCTTCTGGGTGGAGGAACAAGC ATATAGAAAGGTTACAGAATTGGGGAGGCCTGAAGATTGGCTAAAAATGT GGTATGAACCTGCCTGGCTGGAATGGAGATCAGGGGTAGAGGATGAGTAT GATACAAAATGAGAATGGTCATTTGTAAGGACCTTAACTGCTCTATGAAG AAGTTTGGTTTTCATAAGGGAATGAATGAGAAGCTTATAAGGTTTATCAT CGGGAAAGTTATATAAACAAAATAGTCCATAGGAAAAATATTTTGGCATT AGAATATTTAGGGGTGAGAGGACTGTGAAGAATGGAGACACCTTGGGAAG CTACTGCAGGAATCAAACTTTGAGAGGAGAAAGTTTGAACCAAAATGCAT GCTGACAGTTTCTCTAGAAATGCAGGGACTGGCTGGGTGAGGTGGCCCAT GCCTGCAAACCTAGCGCTTTGGGAGGCCAAGGTAGGCAAATCACTTGAGC TAAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAACCCTGCCTATACT GAAAATACAAAAATTAGCTGGGCAAGATGGCCCACCTGTAGTCCCAGCTA CTCAGGAGGCTGAGGCAGGAGGATCGCTTGAATTTGGGAGGTTGAGGCTG CTGTGAGTTGGGATGGTGCCACTGCACTCCAGCCTGGGTGACAAAGTGAG ACCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAGGTAGGGACCACAACTGC AAGCTCCAATGCATCATACAAATCCAACTTTTGATTTTTAATGAACAATT AGGTTCAGATCTTCTCCAACTCCTGTTATGTAGGGACTAAAGCTAGTCAG TAGACAGAAGTGAAGCTATCTGAAATAGAACAAACTTTTACAGATATTTG AAGGTTTTAAATGCTACTTAGAATTGGTCGGAGAATACCTGAGCACCTTG AGGCATCAGTTTCATGCTGAGGAGCCTCTTCAAAGTTCATTACCATCTTT ATTCAGCGGTTATTCACATTTGAGGAACGCATTCTGGTTGAGGACTGATT TTTCCTTCCAGCCTCCCCCACCCTGAGTTTGTGAAACTGGAGCCTCCTAA CACAGCTGGTTCAAAGGAGGGAAAAATCCTTTCCTGCTTAACATTCTGCA AACGGCATGGGCATATCTCCGAAGTCAATCATCATGAATGAAGCCATTTA AGAGTGGGGCCCGCGACTCCTCTGTGCGGATGAATAAGCAGGCAGAGTGG ATCGTATGCAGAGGAGACTGCAGGCAACTCTCTTTCTGCTTTGTCACCCT TTACGACCCGCTTTGCAGTCCCAGCACCCTTCATGGAATGTCTTGCTTTG CAAAAAGAAACAGATAATAACCACACGGAGGAGAAATGCTAGCCCTGCAG CCTGTTATTTAAAAAGTCTGGAGAAAGAGAATGCTAGCCAGACCTTACTT TTGCTCGACATAGCTTGCCCTCTCCACTTTGTGATTACATGCTCGGGGAG GTCGCATGTTCTCCCCATCACAGAACTTGTCAGGAAAAGCAATGGCCAGG AGCTACTGGTGGCTCTTGACCTCTCTGTCTCCATGCCATCATTCCACGTT CATCCCAGGGCAGCTGTGGCGAAACAGTGTCGTTGGTTCTGTAAGTCCTA GCTTCCAAAGGGGAGATTGGCTCCAATCTGTTCTCTAAGACAACGGACAT CCTCTGCTGGTACTGGAAGCTGCAGATCCTTCAATCCACAAGGCCAACAT AGCAGTGAGTGGCAAATCTGTCCAGATTGAGTGCAGGCAGGAGGCCGCCT TTGGTGAGCCTTAGTTTAGCTCCAAGTGCCAATGCTTGACTGTGCAGAGA AAGTAATACTGAGTGTTGACTTGAGAGATCGGGGTAGAAAAGAGAGTCTT GGTACTCATTTCAGCTCCGTTATTGAGTCAGCAGCACAATGTGTACTCAT TCATTCCACATTTGTTGAGCACCTATCACGTGTCAGGAAGCATGCTGACA GCTGAGAACATTGAGAGGAATGAGACTCCTGAGGGACGTGCTAGTAGAGG AGGCATTTGGAAAGCCATTTGATCTCTCTGAGCCTGTTTCCTTTAAAAGC ACAGGCACGGACAATATTTCTAAGGCCTCTTTCCACTCTAACAGTCTGCA ACAGCAATTCTGTGATTGACCTCTGACTCCCTACTCCCACCAGATAAACA CCAGATTAGAGATGTGACTCCCAGCTCACTGTCTCACGTTCAGCCTGTCT GCGTCCTGTATCTCAGAGAGACCAGAGTGTCTGCTTCAGGCATGAGACTC CTAAGTGCCAGCCACTGGTCAGGCATCCTGTGTACCTCTGCCCAGATCGC AGCCGCAGTGGGGATAAAGAAGAACCCTTGAATTTAAACCTTCCTCCAGA GCCCCATTCTGCAAATCGGAAACTCTACAGAACACCCCACTGTAATATCT TGAGGAAGAACTTTTGTTTGCTAGAAATTCTAGAAAAGCAATTCATTTTA CAGCTAACCTCTCTTTTTCTTAACCTCCAAGAGTGCTTGGAAGTAGCAGT TAGGTTGTTTCCATTCTGGAATTCACCCAGACAACTCCATTTTGATAAAG CCTCTCCAGTGAGGCTCCCTGAGCTTTTTCCACGAGGGGAGGCAAAGGAA TCAGAGTCTGAAGACCAAAGCCAGGTAGTCTTTTTGGAGCTTGTAGGTAA GGTAGGTGTGACTCCACCTTTCTAAGTCAGAATTACAGAATTAAAAGTCT TCAAAGAACTTTAATGATATCAAAGTCATTTTTGGAAGAACCTAACAGTT CCCAGCAAAATCAAGTGAGTTCCAGGAGGGTTTCTTGGGTCTCCTGACTT TCTTACTAATAGAAAACACAGTCTCCTTGGCCAGGGAAAGAGGCTTGTGA ATGACTGACTACATGTACCTAATTGGTGGGGTTCTACTCACTCAGATGAA ACCTCATCCCTGATCCTATGGGGGAGCCTCTCTAGTCCAGGCTTCTTTTA TTAGGTTGGTGCAAAATAATGGCAAAAGCCACAATTACTTTTGCACCAAC CTAATACCAACAATGAGGAGTGCCTTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02970.hp1 others(1): Show HG02055.hp2 HG02572.hp1 HG02970.hp1 NA20300.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0006 a0001c0025 a0005c0013 others(1): Show a0001c0006 a0001c0025 a0005c0013 a0008c0057	a0001c0006t0007 a0001c0025t0011 a0005c0013t0004 others(1): Show a0001c0006t0007 a0001c0025t0011 a0005c0013t0004 a0008c0057t0002	a0001c0006t0007g0056 a0001c0025t0011g0074 a0005c0013t0004g0020 others(1): Show a0001c0006t0007g0056 a0001c0025t0011g0074 a0005c0013t0004g0020 a0008c0057t0002g0023	4	80	0.0500	-3726	c.115 others(21): Show c.1155-38664_1155-34939del		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	4/28					chr2	TogoVar
CYP4F22_chr19_15503525_15557317	15553591	ATCACCTG others(3719): Show ATCACCTGAGGTTAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACC CTGTCTCTACTAAAAAATACAAAAATTAGCCACGTTTGATGGCGGGTGCC TGTAATCCCAGCTACTCAGTAGGCTGAGGCAGGAGAATCGCTTGAACCTG GGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTG GGCGACAGAGTGAGATTCTGTCTAAAAAAAAAATTAATTTACCAAATATT TCTTGGGCAATCTGCCGTGAGACAGGCACTGTTTGAGCCCTAGGTTCCCA GAGTTTACCTCTAGGGAGGAGATATGATAAATGATAAATAAGTAAAGAAA GAAGTAAATTCACACAGGGCCTTTTCTGTGACTTTTTTTGTGACAGAAAT GGGGAGTTCTGAGCAGAGGAGGGACAAGCTTTGTCATACGAACTTTTTTT TTTTTTTTTTTGAGACAGGGTCATGCTTTGTTGCTCAGGCTGGTGTGCAG GGGTGCAACCATAGCTCACTGCAGCCTTGGCCTCCTTGGGCTCAAACGAT CCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCA TGCCCAGCTAAGCTTTGTATTTGTTATCGAGACGGGGGTCTTACCATGTT GCCCAGGCTGGTCTTGAACTCCTGGTCTCAAGCGATCCTCCCACCTCAGC CTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCATGCCAGGACTTCCA CAGGACTTTGTGTGCTCTGTTAAACAGAGACAGTGTGAGCAAAGATGGGA CTAGGCAGATCAGTTAGGGGTGACTGCATTCGTCCAGGTGAGACATGATG GTGGCTTCAACCAAGCCGGGGTCTTTAGATGTGATCAAGAGCAATTGGAT TCCAAGGAGGAGTGACTGTTCACAAAGGCAGTGCTGTCAGGCTTGGTGGT GGATAAAACGTGAAGTTTGAAAGAAGTGGGGGACACTAGGTTTGGGCTTG AACATCTGGAAAAATGGAACTGCCATCAGCTGACGTGGGGAATGCTGAGT GGAGTAAGTTGTTTTGTGGGAGATGTCAGGATGTCAGTTTTGGTTCAGAG GAATTGGACATGTCAGTCGAATAAACGGTTCTCCAATTCAAGAGTTTTGG GTTGGGCATGTATATTTGGGAAGCCTTAGTATAAATATTTTATATATTTT TCCAAAAGCTAGTGAAGCGATTTCAAATGGGGGTGATTTTTCCTACCAGA TGACATTCGTTGTTATTTGGAAACATTTTTGGTTGTCACAACCGGTGGTT ACTATTTGCGTCTAGAGGGTAGGGACCCAGCACTCTGCTAAACATTCTAC AAGACAAAGGATACCTAGCTCAATAAAACAAGTAATTATCCAGTCCCAAA GGCAACAGTTCTGCTAATTAAAAACCATGAACTGGAGAACCAAAACAAAC AAAAAAAAAAAAACAAAAAAAAAAAAACAGAAAAGAAAGCAAAACTTTAA GACTGGGTGAGATCTCATGTGTGCGTGTGTGTGTGCGCGCACGCGCGCGC GCGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGAGTAAGGGCT TAAGGGAGCCCTGGGGGTGGTCTCCAAAGTTAACCTAACAATTATGAGGC CAGGCGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGACGCCGGGGT GGGCGGATCAGTTGAGGCGAGGAGTTCCAGACCAGCCTGGCCAACATGGT GAAACTCCATCTCTACTTAAAATACAAAAAATTAGGGCAGGGCGCGGTGG CTGACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATTGAGATCATCCTGGCTAACACGGTGAAACACTGTCTCT ACTAAAAATAAAAAAAAAATCAGACGGGAGTGGTGGCACGCGCCTGTAGT CCCAGCTACTCGGTAGGGCGAGACAGGAGAATCGCTTGAACCCGGGAGAC GGAGGTTGCAGTGAGCCAAGATAGTGCCGCTGCACTCCAGCCTGGGTGAC AGAGCGAGACTCGGTCTGAAAAACAAAAACAAAACTTTTTTTTTTGATTG AGTGCTTCCTGTGTGCTCTTTCCATATATTCCCATTTAATCCTCATACTG ACTTGTAAGATCACTTTTTATTATTCCGTTTAACAGAGGTAGAAACTGAG CCCCCGAATGAAGTGACTTACCCAAGATCATTCGGTGCGGCCTCAGCGCT GGCGCTGAGTCCTCTTCTGCCCCACCCCTCAGGCTCCCAGTCCTGGTCTA GATCCCTAGCCACGTAGCGTAGAAGGGGGCGTCGACGGGGGTTGGGCTAG AGTTGGAGCGGGGAGGAGATGAGCTAAAGCGGGGCTGGCTGTGCGAGAGG CAGTAGCAGCGGCGTGTGTCCTGGGGCGCCCCCCGGTGGCCTGTGCTGGG GTCGTCGGCCGGGATCCCCTGTTCGACGTACTCCGGGGCTGAATGGGAAA CAGACAGTCCCAGACCCTACGTGAGCCACCCGGATCTTGCAGGTGCTGCC TCTCCTACACCCCCCTCCCAACCGAGGGTCTCCAAGAGCGCATCCTTTGC CAAACATCTCCTGGGCCCTTTTCGGCGCAACCTCGCCATCCACTAGCAAA CGAAGTTAGCCTTGAGATCCGACATATGTGGGCTCAATCTAGGCTCTTCC TTCCTAGGGGCGGCCTTGGGCACGTGACTGTCCCTCTCTGCACCTCGGCT TTTTCTTGTCATGCGAATAGTCCGGTATCATCATGCTTGTAATGCACACT GAGTTTCCGCCAAGGGCCACGAGGGTGAATAAATGAGAATGAGAAGGGGA GGAGTAAGGTCCCTGGGTCCCCGGAGCCCTGTTACACGTACTGCAAGTGT AATTCTCAAAACACCGAAGTCTGGTCCTGTCGCTGGCGGCTGTGGGACCT CCTTCCTCCTGAGTGTGAAGAACGCTCCCTCTGCTGGACAATTTGGAGAT CCATTCTCTATTCGTTCAATTTTGTGTCCGTGCACGTTTGAGCGTGCATG TGTGACCGCGTATGTGTTTGGGTGCATTTGGGTAACAGTGTGTGCATGTG TTGTAGTGTGCACACGAGTGTGTGTAAACGTGTATGTGTCGGTGTGACTG TGTGTGCGCATATGGATGGGTGTGTTGGAAGGAGAGGAGAGGAGAACTCC ACTCACTGAGTCACTGTAACTATCCACACACACCAGGCTGTGTTCCTGCT CATGGCTGGAGCCACTGTCAGAGCCCTTGCCTCTGTCCCCAGGTCTGACC TGTGCGGTGCAGGCAGGACATTCTGGAGAAATCATGCCCTTGGAGGAAGC TGTCAGTAATGACTGGTGGGTATTGGTGGATAAATACCCCAGCTCCCTCT CTCTGGGGGTGAAGACTCCCTTGTTCTGGGAGGTGCATGTTCTATTCTGT CTCCCTGAGGTACTAGGCAGGGCTGAGCCCTAGCTACCCACAGTGGAAAC TTCCTCAATAAAGGTCCCTTTAACTGCTGCTGCCTTCCCTTCCCCATCCC TCTTCTCCATTGCCCTAATTGTGTTTCCAGGGATCACCTCCCAAAGAAAC AACAGGCAGTTGAACTCTTGTCTTATGGTCACCCTCCTGATAGAGGATTT GCACTCAACTCCTTGTATTAAGGTCTAGTTCCAGGGAACCCAAATTAAGA CACACATGTGTGCTGGTTCCTCCAATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0377 a0002c0003t0001g0377	1	384	0.0026	-3726	c.21 others(11): Show c.2121_*5846del		CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding				1275		chr19	TogoVar

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Search Results (Total: 1673 hits)