Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NBPF12_chr1_146933324_147001198	146988687	CGACCAGC others(4751): Show CGACCAGCCTTCAGGCCTCCTGAAATATATCTCTCACAGTGTCCTATTCT TATGCTGAGGAGCCTGAGGTCCCTGTGTGAGGATTAGACAGTGGATTGTT ATGTGTGTAGGGGAATCAGCTTAATGTGTCTGTCCATGTCTGAATTTATT GCAGAAATTGAAAAGAAGGGGAAGGGGAAGAAAAGAAGGGGAAGAAGATC AAAGAAGAAAAGAAGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAACC CACCATGCCCCAGGTAACTTTCAGCAATTGTGGATGCTTAATTCTGTGTT AACACCTGGAGGCAACAGATTCAGGGAAACCAGAGTGTGTTTGATGTCAT GTTTTCAACGAAGGCTGAATTACTCCTACTGTCATTGCTGTTGGTTTTCA TTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTAGTA ACGTACCATAGGTTGACCATACTTCAAAAGCTGTACTCTCATGGCCACTG CATCGAATTTTGAGCATATTTTATGGAAAACTATTGAGCTCACTCTTTTC ATGATCACAGTTTGCTGTGTGTCATGAGGGCACTAACTCAGAGTGTCCTT TGACTCCCTTACCAGTATGTCACCTGGCCAATTCACTAGCTCACTTTCTC TCTGTCTCTGTCTCTGTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTGTC TTTCTCTTTCATTGTTTTCTACCTGGCCCTGTTCTATCCCAACATAAAGG CAATAATTTGTTACCTCATTAATGGATCTGTCCTTTTTCTTTTCTAACCA CTTCCTTATGTTAGCCATGAAATCTAGCTGGGGCTGTGTGATTTCTGATT CCCCCTGGCTTATTCTTTACTTTTTCCCACTTTCCAGGCTCAGCAGGGAG CTGCTGGCTGAGAAAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATG GTATTCGACTCCTTCAGTTTATCTTGGACTGACTGACCCATGCCAGCCCT ACAGAAGTGCCTTTTACGTATTGGAGCAACAGCGTGTTGGCTTGGCTGTT GACATGGATGGTGAGTACCTTTCTATGAAGGTGATAAGGATCCACTGAGT CTTCTGGTTAGGGTCATATTCCTACTGCAAGTGGCCCTTACTGAGCTGAG AGATGTCATTGCCACAGGGAGGACCTATAGGCACATGTAGGTTGAGTGAA ACTCTAGTTCCACTTGGAAGCCCAGACAAGGGATGGGTCAGTGAGCAAGG CTCTCTTCCTAGTCTCAGGCCCTGCCTGTGGCACCCTAATCCTACTCTCA AGATGTTGGATCTGGGCAGATGTGACAAATTCACACAACTCTGATTTTGT CTGAATTCTGTAGATCTTGTAGATTTCATCCTTCACTCTAATTTCAGCGT CTAAAATCCTCGCTACCATGAACAATCTGAGTATTTGATGAGACAGGGCT GAATAGTGCAGTTTTTCTCCTAGCAACCATTTGGGGGCACTTGCTTTAAA TCGATTGGAAAAATATGGCATAACCATTTGCACAAACTTGGGAGAAATGA TATTGGGATAACGATCTACCAGAATAGGGAAGTTTACCCAGAGTTTCTGG GACAAAAACCAAGGAATCTCTATCATGCTCAGCCTTCAGGCCTCCTGAAG AATATCTCTCACAGTGTCCTATTCTCATGCTGAGGAGCCTGAAGTCCCTG TGTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGAGAACCAGCTTCAT ATGTCTGTCCATGTCTGAACTTATTGCAGAAATTGAAAAGTACCAAGAAG TGGAAGAAGACCAAGACCCATCATGCCCCAGGTAACTTTGAGCAATTATG GATGCTTAATTCTGTGTTGACACCTGGAGATGCCAGGTCCAGGGAAAAGA AGAGTGTGTTCAATTTCATGTTTTCCACGAAGGTTGAATTACTCCTACTG CCATTGCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTC CTCCCCTTGTCATTTACTAACTTACTATAGGTTGACCATACCTCAAAGGC CGTATGGCAACTGCATGGAATCTTGAGCAAGTTTATGGAAAATTATTGAG CCCACTGTTTTCATGATCACTGTTCGCTGTGTGTCCCGAGGGCACTAAAT CAGAGTGTCCTTTGAACCCTTCATCAGTGTGTCACCCGGCCAATTCGCTG AGCTCACTTTCTCCTCTCTCTCTCTCTCCCTCTCCCTGTCTTCTCTTTCA TTCTTTTCTACCTGGCCCTGGTCTATCCCAACATAAAGGCAATAATTCAT TACCTCATTAATGGATCTGTCCTTTTTCTTTTTAAACAGTTCCTTATGTT AGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGGCTTA TTCTTTACTTTTTCCTACTTTTCCAGGCTCAGCAGGGAGCTGCTGGCTGA GAAAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCGACTC CTTCAGGTTATCTTGAACTGCCTGACTTAGGCCAGCCCTACAGAAGTGCT GTTTACTCATTGGAGGAACAGTACCTTGGCTTGGCTCTTGACGTGGACAG TGAGTACCTTACTATGAAGGTGATAAGCCTCCACCTGGCCTTCCAGATAG GGGTGACATTCCTGTTCCAAGTGGCCCTTACTGACCCGAGAGACGTCATT GCCACAGGCAGGACCTATGGGTGCATATAGGTTGTAATGAAACTGTAGTC TCAGCTGGAAGCCTAGACATGAAATGGGTCAGTGAGCAAGGCTCTATTCC TAGTCTCCAGCCATGCCTGTGGCAACCTGAGCCCACTCTCAGCACATTGG ACCCAGGCAGATGTAAAAAATTCACAGAACTATGATTTGGACTCAAGGGT TTGTAGATTTCCTCCTTCATTCTAATTTCAGTGTCTAAAATTCTTGCATC CGTGAACGAGCTGGGCATTTGATGAGACAGGGCCGAATACTGCAGTTTTC CTCCTAGAAATCCTCTGGGGCATTTTCTTTGAACTGATGGGAACAATAAG GCATAACTGTTTGCACAAACTTGGGATAAATGATTTTGGGATAACGATCT ACCAGAATAGGGATATTTCACCCTTGGTTCTGAGATGCAAACCAAAGAAT ATCATGACCAGCTTTCAGGCCTCCTGAAGTATATCCCTCAAATTGTCCTG TTCTCATGCTGAGGAGCCTGAGATCCCTGTGTGGGGATTAGACAGTGGAC TGTTATGGGTGTAGGTGAATTGGCTTATTTTGTCTGTCCCTGCCTGAATG TATTGCAGGAATTAAAAAGGACCAAGAAGAGGAAGAAGACCAAGGCCCAC CATGCCCCAGGTAACTGAGCAATTGTGAACAGCTACTTCTGTGTTGACAT CTGGAGACTCCTGGTTCAGGGAAAACAGAGCGGGCTGACATTATCGATTA CATCTTTTCAACCAAGCCTGAATTATTCCTACTAACATTGCTGTTGGTTT TCATTGCAGTAGATACTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTA CTAACCTACTGCAGGTGGACCAGACTTCAAAAACTGTATTCTCATGGTGA CTGCATGGAAACTTGAGCACATTTTATGGAAAATTATTGAGCACAGTCTT TTCATGATCACTGTATGCTGTGTGTCCTGAGGGCACTAACTCAGAGTGTC CTGTTACTCCCTCATCAGTGTGTCACCTGGACAATTCACTGAGCTCGTTC TCTCTCTCTCTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTCTATCTGTCTTTCTCTTTCATTC TTTTCCATTTGGCCCTGTTCTGTCCCAACATGAAGGCAATAATTTGTTAC CTCATTAATGGATCTATCCTTTTACTTTTTTTAACCACTTCCTTATGCTA CCCATGAAACCTAGTTGGGGCTCTGTTGTGTCTGATTTCCCCTGGCTTAT TCTTTACTTTTTCCTCCTTTTCCAGGCTCAGCAGGGAGCTGCTGGAGGTA GTAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTCC TTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAGCCCTACAGAAGTTCCT TTTATGCATTGGAGGAAAAACATGTTGGCTTTTCTCTTGACGTGGGAGGT GAGTACGTTTCTATGAAGGTGATAAGGATCCACTGAGTCTTCCATATAAA GATCATATTCCTGCTCCAAGTGGCCATTACTGAGCTGAGAGATGTCATTG CCGCAGTGAGGACCTATAGGCACATGTAGGTTGAATGAAACTCTAGTTCT ACCTGGAAGCCCAGACATGGGATGGGTCAGTGAGCATGGCTCTCTTCCTA GTCTCAGGCCATGCCTGTGGCACTCTGATTCTACTCTCATGACATTGGAC CTGGGCAGATGTGACAAATTCAGAGAACTATGATTTTGACTCGAGGGTTT GTAGATTTCCTTTTTCACTCTAATTTCAGTGTCTGGAGTCCTCACAACCA TGAACAATCTGAGTATTTGATGAGACAGGGCTAAATATTGCAGTTTTTCT CCTAGAAATCATTTGAGGGTATTTGCTTTAAATTGATTGGAAAAATAAGG CATAACTGTTTGCACAAACTTGGGACAAATGATATTGGGATAACGATCTA CTAGAATAGGGACATTTTACCCAGAGTTTCTGGGAGAAAAACCGAGGAAT TTCTATCAT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00544.hp2 HG03130.hp2 HG00544.hp2 HG03130.hp2	a0030 a0035 a0030 a0035	a0030c0045 a0035c0013 a0030c0045 a0035c0013	a0030c0045t0012 a0035c0013t0002 a0030c0045t0012 a0035c0013t0002	a0030c0045t0012g0084 a0035c0013t0002g0100 a0030c0045t0012g0084 a0035c0013t0002g0100	2	122	0.0164	-4758	c.339 others(15): Show c.3399-74_4131-75del		NBPF12	ENSG00000268043.9	transcript	ENST00000698835.1	protein_coding	31/37					INFO_REALIGN_3_PRIME	chr1	TogoVar
NIM1K_chr5_43187225_43285850	43238210	TTTTTTGT others(4751): Show TTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGG TCTTGATCTCCTGACCTTGTGATCTGCCCGCCTTCAGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAATTTAATTCTTTAATT TCCAAGACAGCTCTTTCTTGTTGTCTGAATTGTCTTTGAATTTTTTTTTT GTTTTTAGCATTTGTTCTGGTTTTATGGATCCAATACCTTATCTTTTATC TTCTGCTTCTTCATGGCTCTACATTTCCTTCAAGTTCCTTTTTGTTGTAG AGATTGTTTTTTAGGTTGAGCATGGTTTCTTTCTTTCATTTTGGAGCCTT TCCTCAGATGTCTCATGCCTCTTGACTGAACATTTATTCAGTCATTCATT CTAAGCAGAATGCACTGAAACTTGGTTGGAAGCTCCCTGCGTGTGCATGA AACTGGCACTTGGAGGATTGTGCGGTAGATGGCTATGTGGCTTTCTTGAT GGAGAACTTTCAAACGTAGGTTTCAGAAAGTCTTTTCTCTTGAGTTAGTC TATCCAAAAGAGGAGTAGCCAACCTCGAGGTTTTTATGTTTATTTTCCTC CATTCTGGGAACCAAGAGTGCAAGGAGAAGAGAATGAGGGATTCTACAAC ACAGACTTTTACCTAATCCTCCGTCCTGTGCCTTGTGTTCCTGAGCTGGG ATGGGGTAGAGAAAGTAACAACCTATCTTTGAGGAGGGAAAGGCTGGCGG GGGCGGGGGGTGGGGTCTCACTGCTCTAACTTCAAACAGTTTCCATGATT TTGATCCTGCTTTATTCCTCTAACCTTTGAGGTACTTGGTATCTTATAGT TTGAAGCCTTTTTGAGCACTCAGAAAGGTGAATCTCATTGGCATGCCCTT ATGTAGGAATTTAGGTTGCAGTTTTCTTCCTTGTCTGCAAAGTTGCTTAT CACTAATTTTCTTGCCATCTCTCCATCTCCCCAAAAATGTATTGACATTT CTCTGCTGCTATCTCCTCTCTTATTTTTATTTATTTATTTTTTTAAGTTG GAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTTGGCT CACTTGCAACCTCAGCTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCT TCTGAGTAGCTAGAATTACAGGTGCCCGCCACCATGCCGGGTTAATTTTT TTGTATTTTTAGTAGAGTCTGGGTTTCACTATGTTGGCCAGGCTGGTCTC GAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGA TTATAGGCGTGAGCCACCGCGCCTGCTTTTTTTTGAGATGGAATTTCACT CTTGTTTCCCAGGCTGGAGTACAATGGCGCAATCTTGGCTCACTACAACC TCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCT GGGATTACAGGCATGCACCACATGCTTGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT CAGGTGATGCAGCATGCCTGGCCTCCACTCTTATTCTTTTTATCCTCATG GGTTTGTAACTTTCCTCCTCTTATTTTGCCATTTTGAGGTTTTTTGTTTT TTGGAATAAAGTAGAAATAAATGAGATCATTAAATTCTCCATGTTTCACC AGAAGTCCTGAATTATCTTTTTATTTTAAAAGCAATCCATTAGATATTAG AGAATCAGGTATGATAATTTCCCTGTGTAACCAAAAGTAAAGCAAACTTA TCGTACACCAACTATGTAAGGTGGCAACACATTAAATATTTTTAATTGTT TCCTTTTTCTTTTCTTTTTTTCTTTCTTCTTTGAGACAGAGTCTCGCTCT GTTGCCTAGGCTGAAGTGCAGTGGGGTGATCTTGGCTCATTGCAGCCTTG ACTTCCCAGGTTCAAGTGATTCTCCCACTTTGGCTTCCTGAGTAGCTGGG ACTACAGGTGTGCGCCACCCAGCTAATTTTTTTTATTTTTTATTTTGTAG AGATGGGGTCTCACTGTGTTGCCTAGGCTGGTCTTGAGCTCCTGGACTCA AACCATCCACCCGTCTCGGTCTCCCAAAGTGCTGGGATTATAGGTGTGAG CCACCACAACCAGCCTATTTTCTTTTTAAAGGTAAGTATACGCACATTAA AAAAATGTAAATCATATGAAAAAGTAAGCAGTAAAAAGTAAACCTTTTTT TCCACTCCATTCCCCTGTCCAACAAGTCCCTTCACCAGATGCAATAACTC TACCTATTTTTAGGGATTCCCTCCTCTTTCTTACACTTTTTTTTTTTTTT TTGAGATGCATTCTCTTTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAT CTTGGCTCACGGCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCT CAGTAGCTGGGATTACAGGTGTGTGCCGCCATGCCTGGCTAATTTCTTTG TATTTTTAGTAGAAACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAA CTCCTGACCTCAAATGATCCACCCACCTCAGCCTCCCAAAGTGCTGGTAT TACAGCCGTGAGCCACCACAATCGGCCCTTTCTTACACTCCTGATTATCA CTTTATAAACACTCTTCCCACCTCTTAACAGTATATCTTGGATACTGTAA CTCATTCTTTTTCACATCCATCTTTATGTCAGAAATACACATCTTTGCAC ATGTGTGCAAAGAGAAATTCTAGAAGTAGAATTGTTGAAGCAAAGAACAC ATACACTTGTAATTAATAGTTACAGCCAAATTACCTTCCAAGCAATTGTA CCGATTTATACTTCAGTAACAATGAATGAGAATTCCTGTTTCCCCATACT ATCTCTCACCATTGCACTATCAAAATTTTTTTTTTGCAGCTTTCAAATTT AATATGTGAAAAATCTAATTTTAGTGTAGTTTATGGGTATTTCTTTAATT ATAAGTAAGGTTGAGTACATTTTTGTATATTATGGAGTCATTTGTATTTT CTGTGAAATGTCTGCTCATGTTCTTCATCATTTTTCTTTTTTGGGAGGAT ATTGGTATTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGCCTTTAGGCTGGAGTGCAGTTGTGCTATCTCGGCACTCGGCA CTGGGTTCTCGCCTCCGCCTCCTGGGTTCAAGTGATTCTCTTGCCTCAGC CTCCTGAGTAGCTGGGACTACAGGTGTGCACCACCACGCCCAGCTAATAT TTTGTATTTTCAGTAGAGACGAGGTTTCACCATGTTGGCCAGGAGGATAT CGATCTCTTGACCTCGTGATCCCCCACCTCAGCCTCCCAAAGTGCTGGGA TTACAGGAGTGAGCCACCGTGCCTGGCTGGATATTGGTATTTTTAAAATC AATTTGTAAAATTCTTTACTTAGAAAATTGTTTATTTTTTATTTGTTTAT TATATTTGTTGGAAAGTTTTCCCTATCAGGTTATCATTTGATTTTTGCCT GTCTGTTTATGATACTTTTGGGCAAACAGAAAATTACAATTTTATGTAGT CAAATTCAATGTTTTCTTTAATGGCTTTCGCTGAGATCATAAAAAAATTT CTGATTCTTTTCTAGTATTTCATGATTTTGTTTATTTTACATTTACTTAG ATGATTTATTTGGCACTTATTTTGAAGTAGGAGTGAGATAGGGGTTTGGC TTTTTCCCCAGTTGACTTGCTGGCTGTCCCAAGTTGCAATTCATCCTCAA TGCAAACCACAGCAACATTTGTAAAAGTGTAACAAAAACACTTTATCTGA TCTAAATGGAAGATTAACTGTCTCCTCGACCACTAAGGCAAGACAATTGG TTCAAGACCGTTTTGCAAGAAGTTTCATTTGTAGGTGTTAGGGTACGTAA TTCAAGACAGAGACTGATCATATTTGGCAATTGTACCTGTGCCCTCCCTC TCTGTTGAATTGGGAAGGGAGGGAGAGGAATTCCTGGGAGGCACCTGAAG TCTCAAACTCTACTGTAAATCCCAGGGCCTGAATAGAGCTCAGGATATAG ACCCCAAATCAGGAGAGTTGGGGAACAGGAAAGCAGAGAACAAGCCCTGA AGCAGCAGCTGGGCAGGAGATGGAGGGGAGCAGGTGCAGAGAGAGGCAGG AGGCCTGGTGCCTGTGGGGAGCTGATTCTTTCAAAGGGGCAGGGATGGGG GAGACTTGCATTTCGAAGCAGTTCTGTCACAGTTCTCAGGGGGATGATGG ACTTTGGACTAAGCTTTTACCTCCACAAGAAGATGGGGCCAGGAATTCTA ATAGCTAGTAAAGGGAGCCCAAATCTTAAAAATGTGGACTGAAATAAACT GAGATAGTTAAATTCTAGGATAGTGTTAGTAGTTAAAAAACAAAAATATT TACCTCTACTAAATCTTACCTAATTGTAATGGTGGATTAATTGGTAAATT AGTTCATTCCTTCTTCAACAAACTTTTATCAACTACTGTGCAGAACTCCC AGAGACAGAGGGAAGAGTAAAGCACAAGTTCCTGCCCACCTGGTGCTTTT TTTTTTTTTCAGATGGCGTTTCACTCTTGTCGCCCACGCTGGAGTGCAAT GGCATGATCTCAGCTCACTGCACCCTCTGCCTCCTGGGTTCAAACAATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCGCCACCATG CTTGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02615.hp1 others(6): Show HG02257.hp2 HG02451.hp1 HG02615.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0001t0001 a0001c0001t0002 a0001c0005t0002	a0001c0001t0001g0066 a0001c0001t0002g0261 a0001c0001t0002g0262 others(6): Show a0001c0001t0001g0066 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0005t0002g0260 a0001c0005t0002g0263 a0001c0005t0002g0267	9	292	0.0308	-4758	c.-69 others(19): Show c.-694-6847_-694-2090del		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
TNFSF13B_chr13_108264718_108313478	108294702	GATATCAG others(4751): Show GATATCAGTGTAACTCTAGACATACAGAACAAGTTAGGAATGGTTCCCTT CTCTTTTACTGTTTTTTGGAAGAGTTTGAGAAGATTGATGTTAATTTTTC TTTAAATGTCTAGTAAAATTCACCAGTAAAACCATCTAGTTATGAATTTT GAGGGAAGACTTGGATTAATTAAAACTCTACACTGGTTATAGGTCTGTTT AGGTTTTTTATTTATTTTTGAGTCAGTTTTGGTAGTTTGTGTGTTTCTAG GAATTTGTCCCATTTGTCTACATTATCTAATTTGTTGGAGTACAATTATT ATAAATAATAAAAAGGTATAGACATTTTATTTCCAATGGGCCATTAATAA TACCTCCATTTTCTTTAATGATTTTATTAATTGGAGTATTTTCTCTTTTA TTGGTCAATGTAGCTCAATGATTGTCATTTTTGTTCATATTTTTCAAAAA ACCAGTTTTCAGTGTTATTGTTTCGTCTTTTTCTGTTCTTTTTTTGAGAT GGAGTCTCCGTCACCCAGCCTGGAGTGCAATGGTGCGATCTCGGCTCACT GCAACCTTTGCCTCCCAGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCATGTGCCACCAAGCCTAGCTATTTTTATTTAT TTATTTATTTTTTGTATTTTTAGTAGAGACTGGATTTCACCATGTTGGTC AGACTGGTCTCCAACTCCTTACCTCAAATGATTCACCCGCCTTGGCCTCT CAAAATGCTGGGATTGCATGTGAGCCACCGCACCCAGTCCTTTTTGTACT CTTTATTCCATCTACCTTCTTTATTATTACCTTCTTTATTATATTATCTG ATCTTTATTATTTTCTTCCTTCTGTCAATTTTGGGCTTAGTTTCTTCTTC TATTTCTATTTCCTTAAGCTGAACTTAGGATATTATGTTGAGATCTTTTT TTAACATAGGCATTTACAGTTGTACATTTCTTTCTGAGTGCTACTTTCAC TGCTTCCTATGAATATTGCTATGCTGTGTTTTTATTTTCAATCATCTCAA AGTATTTTCTATTTTCTTCTAGGATTTATTTATAGATCAATTTGTTGTTT AAGAATTTGTTCAATTTTCACTTATTTGTGAGTTTTCCAATTTTCCTTAT GTTATTGAAGGTAGCTAAAATGAATGCTTAATAGAGAGCCATTTCAGATT GAAAAACATAAACAGGTTTCAAGGTCAAAGGATGAAAAACATATCTTTTT AAAATACAAGATATTTGTGGAATTCAAATATTTTAAAATTTAATGAGAAT TATTTTGTTGCATAACATGGTCTATCTTGGTCGATGTTCATGTGCATTTG AAAATATGTGTTCTGCTGATTTTAGGTGGAGTGTTTTCTATGTGTCTGTT AGGTTCAGTTAGTTTACAGTGTTGTTCAAGTTCACTATTGCCTTATTGAT CTCTTACCTAGATGGTCTAGCTATTATTTCAGGTGAGATACTGAAATCTT CAGCTGTTACTATAGAAATGTCTATTTCTCCTTTCGGTTCAGCCAATATC TGCTTATATCTTGAGGTTCTGTTGAGTGATGTTTATAATTATTAGGTATT CTTGATACATTGACTCTGTTATCAATATTTAATACTCTCTTTGTTTCATA AAAATTTTTGGCTTAACATGTATTTATTCTGATATCAGTATTAGCCATCC CTGTTATCTTTGGCTGCTATTTGCAAGGAGGCATATTTGTCATCCTTTAA TCTTGAAACCTTGAAACACAAAAACCTGTTTGTGTTTTTGAATCTGAAGT GAGTCTCTGGTAGGCAGAATATAATTAGATCATGAGTTTGGGCTTTTAAA AAAATTATTTTACCAATCTCTGTATTTTAATTGCCAAATTTAAATTTAGC TCATTTATATTTAAAGTGATTACTGATAAGGAAAGAATTACTTATGTTGC TGTTTGTTCTTTTATAAGTTTTGTTCCTCAATTCCTTTATTACCTCTTTA TTTTGTTTTTAATAGACTTTTATAAGTACATCATTTTGTTTTTCTCTTAA TTTCTTTTTGTGCATTTTTAAAAGTCATTATCATAGTTGTTATTCTGGTG ATCACAATAAACATCCTAAATTTATAACAATGTGGTTTGAATTGATAACA ACTTAGCTTCTCTCTTATGTTGTTATTGTCACAAAATATACGCTTATACA TTGTAAGCCCTTAACATAAATTAATAATTATTATTTTATGTATTTGCCTT TTAAATAGTATAGGAAACAAAAGGAGAAGTTAAAAACTAAAAATACACTT ACAATGGCTTTTATATTTGCCTATGTATGTACCTTTACTTGTATTCTTTA TTTCTTCATATGTCTTTCAATTCTCACTTAGTGCTTTTTGTTTTATTTCT ATCTCCTTTAGCATTTCTCACAGGGTAAGTCTGCTACCAATGAACTCTCT CAGTTTTTCTTTATTTGAGAACATCTTAATTTTTCTTCACATTTTAAGGA TATTTTCCCACATATAGAATACATGGTAGACAGTGTTTTTCATTCAGTAC TTTAAATATGTAATTCCCCTGGCTTCTGGCCTCCATGGTTTTTGATGACA AATCAGCTATTAATCTTATTCAGCATATTTTATATTTGATGAATTGCCTC TCTTTCTGCTTTCAAGATCTCCTCCTTGTCATTATCTTTTAATAGCTTGA TTTTAAGAAGTCTTGGTAGGAATCTTTTGTGTTTACCCTTCTTGGAGTTT ACTGAATTTTCTTAGATGTGTACATTCATGACTTTCTTCAGCGTTGGAAA GAGTTTGGCCATTATTTCTCCAAATATTCTTTTTTCAAATTTTCTCTCTC TTCTCCTTCTGTAACTCTCATAATGCCTATGTTCATCTGCTTAATGTATC CTGGGGGTCTCTTATAATCTGTTCACTTTTCTTTTTTCTTTTTTATTTTA ACTTTATTTTTAGAGCCATTTTAGATTCACAGAAAAATTGAAAGGAAGGT ACAGAGATATCTCATAGACCTCATATTCCCTACGGATGCATATCCTCCCC CATTATCAAAATCCCCCACCAGAGTGATACATTTGTTACAACTGATAAAC CTACACTAATATATCATTATCATCCAGAGTCCACAGTTTACATTAGGGTT CACCTTAATGTTTTACTTTCTATAGGTTAGCACAAATGCATAATGGCATG TATCCACCATTGTAGTATTAGAGTATTTTCACTGTCCTAAAAATTCTCTG TGCTTCACTCCAACTACCTTTCCCTTTCCACTGCTTATCCCCTGGAAATG GCATTTTTTAAATGTCTCTGTAGTTTTAACTTTGTTCCAGAGTGCCATGT TGTTGGAATTGCACAGTATGTAACATTTTTATTTTCACTTCTTTTTTTTA GTAATAGCAATTTAAGTTTCCTTCATGATATATCAGTGTAGGTTTATCAA TTGTAATAAATGTATCACTCTGGTGGGGGATTTTGATAATGGGAGAGTAT CTGTAGGGAGTATGAGGTCTATGAGATATCACTGTACCTTCCTCTCAGTT TTTCTGTGAATCTAAAATGGCTCTAAAAATGAAGTTAAAAAAGAATAACG AAAAGTGAACAGATTATAAGAGACCCCCCAGGATACATTAAACTGATGAA CATATGCATTATGAGAGTCACAGAAGGAGAAGAGAGTTAAAATCTGAATA AATAATATTTGGAGAAATAATGGCCAAACTCTTTCCAATGTTGAAGAAAG TCATAAATTTACATATCTAAAAAGTTCAGTAAACTTCAAGGAGGGTAAAG ACAAAAAGATTCCAAATCTTATTAAAATCAATTATAGTAAGTCTTGAAGT AGAGTAGTGTTAGTTCTCCCATTTTGTTCTTATCCTTTAATATTATGTTG GCATTTCTGTGTCTTTTGCTTCTCTATATATTCTTTAGACTCAGTTTGTT GATATTCAACTTGCTTTGATTTTGATTAAGATTGCATTGAGTCACCTGGG CACGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGA TCACAAGGTCGGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCT CTCTACTAAAAATACAAAACTTAGCCCGGCGTAGTGGCACTTGCCTGTAG TCGCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTCGAACCCCAGAGG CAGAGGTTGCAGTAAGCCAAGATGGCACCCCTGTCTCCAGCCTGGGCGAC AGAGCAAGACTTGGGAAAAACAAACAAACAAACAAACAAAAAACAAACAA ACAAACAAAACATTGCATTGAATCTACAGGAAGAACTGACATCTTGACAA TATTGAGTCTTCCTATTCATAAACATGGAATAGCTCTCCATTTATTTAGT TCTTTAAATCTTTTACATATTTTGTTGGATTATTCCTCAGTATTTCATTT TTTGAGGTAATAATCTCAATGCCATTATGTTTTTAATTTCAAATTCCACT TGTTTATTACTGGTAGAAAAGTGTTAGATCACTGGTAGAAAAGTGATTCG CTATTGAGTATTAATCTTGTAATAATGACTTTATTCTTTTGGTCCGCTGA GTAGTTCATAATTTTCTCTTTCTTTGTATGCCTTGAAGTTTCTTCTTGAA AAGTGAACAGTTAGGCAGTTAGGATGTTACAATGTAGCAAATCTGGAAAT CAAAATTACTCCCATCCTCAGGGTTTTCTGTTAATGGATGTGGACTGCAG TTGTTCACT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00735.hp2 others(26): Show HG00099.hp1 HG00099.hp2 HG00735.hp2 HG01109.hp2 HG01261.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp2 NA18906.hp2 NA19065.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0069 others(26): Show a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0206 a0001c0001t0001g0227 a0001c0001t0002g0142 a0001c0001t0002g0162 a0001c0001t0002g0200 a0001c0001t0005g0277 a0001c0001t0005g0330 a0001c0001t0006g0056 a0001c0001t0006g0083 a0001c0001t0006g0101 a0001c0001t0006g0169 a0001c0001t0006g0212 a0001c0001t0006g0214 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0308 a0001c0001t0006g0320 a0001c0001t0007g0172 a0001c0001t0012g0087 a0001c0001t0032g0290 a0001c0001t0033g0144	29	384	0.0755	-4758	c.481 others(17): Show c.481+7844_482-3793del		TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	3/5						chr13	TogoVar
ANO6_chr12_45211095_45437349	45377477	ATAGAAGC others(4750): Show ATAGAAGCATCTGTCAGTGATGGTAGAAAAGCCATCATTGGGTTTAAGAA AACAGAGTTCTCCTGGAGGAGAGCCACTTCGAGATAAACCTCAGCTTTGT ACGTCTCTTAACAGGAAAAACAGGAATTCTGAAACTTACCCTCTGACCAG GGTGGGATGATGATAAAATGTAAATCATATATCTAAAAGTTGCTTAGGGA TCATTGTATTTGTAGATCCATACTGCTTCCTCAAATCCATTATGACAGCT CATAAGAGGCTGTTATTCAAGCCCAATGGAGGCTTTAAACACAGTGGAAT TCTAGGAACTATACCTGTTTCCTTATTGGGATATGCAGAGTTTCACTGGA AAATACACTGGTTAATACAGCAAAGACTTTGCTTTGAAAAGAATCAAATT TCATCTATAAGTATGTAGTGGATACATTGAATGATGTATGATCATAGATG ATTGTTAAACTAGGCATCACCTTTGAAAAGAACTTCAAGACTGTAGAATA GACAAAGCATTTCATATTTACTGAATCCTAATAAGTGGAGGATATGACTC ATTTATATGTCATTTATATTTTCCAGAAATTGTGCATCTTCGACAGTTTT GGAACCCTGGTCTTTGCAGTATTTATGGGAGTATGGGGTAAGTTTTTTTT TTTTTTTTCATGCACTCAATTTGATAGTATTACACAGTTTTATGTAGGCT ATCAAAGTAACCCACTTTTAGGATCTTGTATTGCCCAGGCTTCAACTCCC CTAGAATTCCATTTATAACTGAGGGCATTTATCAGTTAACTTTTACTATA TTAAAATCTGCATCAAAATATAGTGGCTTAAAACAACAAACTTTATTTCT CATGTTTATTATTTCTCATCATTCTCTGGGTCAGCTGAGAGTTCTTCAGG CATGGGTTGGCTCAGCTGACTCTCCAGTAAGCTGGCAGCTCCACTGGGGA TAGATGATCTTGCAACTAGAAACCCGGTTTGGTCTGTGGGGCTCGGCTGG GAAGGCTTCTCTGCTCCACATGGTGTCTCATCTTCAAGTAGGCTAGCCCA GGAGTCTTGGTTTCAGGGTTCCAAAGAGAAGAGAGGACAAGCTTCAGTGC ATATGCATTTTTAAGCCTATTGTTGCACCAAGTTAGCTAATGTCCCATCA ACCAAAGTAAGTCATATGGCCAAACCAGCATCAATGTGGGGCGGTGGGAG TACTACCCAGTGGCTTGGATGTAGGAGGCATGATTTGTTGGAAGCCATTA TTGCAACAGCCCTCACAGTGTGATACAACCTAACTTTTATGGGGGTGGAG ATCAGGAGGAAGCAGCAACACAGTGATTATGGGTGAGCTTTCTTTCTCAT ACACTTCTATGTGAGCGGATATTTAATGAGTATCTGCTACTCGTATAATA ACAACAAACTCTACTTACTAACTAGAACAGATATAATTCTACAGGATCTA ATTCCCATATGGGAACTTTACCACTATATATTATTTACTTTGGGATAGAA TCATTAATACAATGAGGCAATTATCATTTTCTTTAAATGCAAACTTTAAA TGTTTAATTGATCTGAATGTTCTAACGTAGAAGAAAAATTTCCATTTTCA AAATTAGATGCATTTCCAATTTCATTGTGTAAGTATGAGGAACAACAGAA TTCAGGTTATAGGAAGGCAGAGGAAAAAACTGAACCAAGTTTCTTATTCT TTAAAAGACAACACGTCAATGTGTGTAACTCACAGAATCAGTTATTTACG GTGTCCTCAGCAGTATTTCTGTTTGGTAGTGATTGTGCCTATGAAGAATT ACCAAATGGATCACAGAACAGACAATCCAGTTATTTTGCTCACTTTTTAG AGATATTTGTTGCCGCTCCACAGATAAAGTGCACTGTAAGGTGGCCAAAC ATCCCAGTCAGTTACATTGGCATTCAGCCATTTAGCATGTTTTGGCTGGA GACCAAACTCTGACTAATATTTGACCCATAGAAGAATAAAGATTGAATGT ATGTATTAAGATCCTCTGTGCTCCTCCATTGTAATACACCTTTCTCCGCC CTCCCCTTCCGCCCAGTAAGAGCTTAGGTGCTGAACACATGGGTCAGCAT TTTAACTATTAACCGTACTCTCAGCGTTGAATCATAATGTATAACATTCT AACACATCTACTAAACTGCATATACTAATGGATGCTGATAGCCCCAATTA AAGAAGACATTTGAAATAAAGCAAAAAATGTTAATTTTGACACTAGAAAG ACAAGCCTCAAATTTACTAGCTAACCTTCCTTTCTCTGATCATTAACTAC ACCATGGTTATAGAACTGACTTACACATTAGCTGCTGATTTTATCTGATT TTTGAATGCAGAAAGTATTTCAGCACTGCCTATAGCATCGTATGTATATT TTTAAGGATATGTATGATAAACTTTAAGTGCTTTGTGTGGCTTTCCTTGT TACTTCTGCTTTGAGAACTACTGCTGTGAACCACTTTACAGAAAGTTTGA AATTGCAGAACCAAACAGGCTACAGCCTCTTGTGAAGTTATTCATATCAC CACCATTATGTTCCTGCAGCATCTTTTTTGTGCCCAGACGCATATGGCAC TTATTTTTCTGCTCCCTAGAAATTATGAAAGTTGAGAGTAGAAAACCTTT TGTAATCAATATAATATAAATCATATACGTACCTTAAAAATGTCCATCCT TTCAGGACAAGGCAGCCCACCTGTTCATACTGATTCATAGAGTCCTAAAC ACCAACCCATGGTTGAAGTAAAGGTTCTAAACACATCCTGCCCACTCCCT TCCTTGTTGCATCTTGCCTACTTACACCTGATTCTCCCTGGATCAGACTT GGCTGCATGACTGCAATGTTTAATTTTCACCTTTGAGGGGTGAGTTCTAA ACTAGGCCTACTTATTTCCAGAAAACCACCAGTCATCTGGCTCACTAAGG ATCTGGGGAACCAGGAAGCCTAACTAGCTGCACTTGGGGATCAGAAAACA GCTGCTGTGACTGTTACTTTCAGACCTGTGCTGCTTCTGCTAGGTCCACA CCAGCAAAATAATGCATCTCCTGCTACCACCACCCTGACTCTGTTCAGCC CAGTTTCTGACTTAAGTGACATACAGATGCTTCTGAGAGGCATTTTAAAA AATCAGATCTGGAACCCTAGCTGCAAGAGAGTTTCTAGCCCTTGAATTAG GAGGTTGGAATAAACGGCTGGGTGTGGTGGCTCACGCCTGCAATCCCAGC ACTGTGGGAGGCTGAGGCAGGTGGATCACTGAGGTCAGGAGTTTGAAACC AGCCTGGCCAACATGGTGAAACCTCGCCTCTACTAAAATACAAAAATTAG CCAGGTGTGATGGTGCACACCTGTAATCCCAACTGGAGGCTGAGGCACAA GAATTGCTTGAATCCAGGAGGCAGAGTTTGCAGTGAGCCGAGATCACACT ACTGCACTCCAGCCTGAGCGACAGAGTAAGACTCCATCTTAAAAAAAAAG TTGCAATAAAGGCTGAGGAAGTTAATCTAACTTCTCTGCCTCTGTGGGTT ACGAGGCCTAAATGGTTTCAAGGCGTTAAAACATCCTAGACCTTCAGCAG CAAACTCTTACAGCAACCAGAACATTCCCATCTACCAGAGTGTGTCTCAT CCTTAGACAATGCAGGATATAACACCATAACACTTTACTGCTCTGAAACC TTTTTATGTATATGTGCATCTTCTTCATCTGATGCATATTTTGTTTAGAT ACAGTAATATCCTGATTAAGAGGAAGAGCTGTTATTGATCCCCAAGTTCC AGACAACCTTTCTCTTTTCTTATTATATGTTGATGTAAGAGTTTTAACTG TGCCTAATCAGCTAGCACCTCTGGATTGCCAGAGAACAGAAGTGTGTTGC TCCCTGCTGAAGTTCTATCAGTTGTCTTATTGCAGGGGGAGAGAGCAAAA GATACGGAACAGAAATTTCTGTCTGTGATCATGCACGGTCACCCCAGGGC TTGGTGCCCTCAATCTGGGACACACAGCATTGTGAGTCAGCACTGGCGTG GCCCAGGAGTACTCCAAAACACTGGATGACTACTAGGTTAGCAGTGCCTT CCATAGACCCTGCAGAATCTGTGGCTGAGTGAAATAAGGAACTAAAACAC TCACCTGTCGCTGCAATTCCCAGGGGTTTTCCTTCAAGGCTGAGGATTTG CTAACACCAGACTATGTCTTGCTTGCATTGCAATCCTATCACTTCCCAGG CAGAACTGCTTCCTATAGTTCAGAATTTCGTAAACAGAAGCATTTTACCC AGTATGTTCAAATTCAGGGAGGAGGGAAGAGGACATCCACTGTTCTTCCC TTATAGCACCGACTAGAGTTGCTTATGTTACTCTTTGTGAGAAAAGTTAA GAATATTATCATGAATTATCTCCTGTTGATACCTTATAGATACTGAGATA GATACTAGATAGGTACTGAGTAAATGAGTGGCTATCACACTCCGATTTTA AAGATGAAGAAGATGACACTCAGGAAGATTAAGCCAATTACCTAAAGCCC CACAGACAGAAAGTGACAAGCATAGAATAAGAGTTCTGCCAATAATTTGG CTATTATCAGTCTTTAGATTGATGACAAAATACAGTGTATATTAATGAAG TTGCAGCAAGCTTTGAGAAAGATGCAGAAATAATTTGGTTTTTACTGACA TAATTGCATTATTTTTGGTGCTGTGAAAAAAATGAGAATGGGTTAGAAAA TGTCAGTT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18994.hp1 NA18994.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0003 a0010c0014t0003	a0010c0014t0003g0163 a0010c0014t0003g0163	1	234	0.0043	-4757	c.110 others(18): Show c.1105-572_1165+4124del		ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	10/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
DAZ4_chrY_24828919_24912040	24871384	CTTTTGTC others(4750): Show CTTTTGTCATTAGTTCCCCCTTCACTCCCAAAGTGTAGCACTTGTCATAG AATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTAGAATTCTGCATTAT TGTATGTAGAAAAACAATATTTTACCTATTTTTGTTATATTCAGAATTAT ATTTCTTTCTAATTTTAAAAAAATGGTTTACCGTATTCATTTTTTTCTGG AACCTTTCTTTTCAGGCATTTCCTGCTTATCCAAATTCACCATTTCAAGT CGCCACTGGATATCAGTTCCCTGTATACAATTATCAGGTAATGTCAGAGG GAGTAAAATGATTTGCTTTTAGGTATTATTGAGGCCTTTAACTTGTTCAT ACAAATTTCCTGAATAGTTGCTCATTTTAAACTAGTGAATTGTACCTAAA ATTTAAGGAAACACTTAGTGTAGAATGAAGACCTCTGTGTTATTTAGAAT AATGAGGTAGTATTTTGACAGGAATATACTTGGCAATAACTTTTCTGTAG AACAGATTTCTGAGATTTGGTGTTCTCTTCTTCATTTCTGGATGTAGTTT TCATCTTTACTGTCAAATAGCTAAATGAAACGTCCAAAGTGTCTTTCATG AATTTTCTTAGGGAGATAGACTGAAATAAAATTATGCTGCACTTTTCAGA GCACAGAATCCCAATTACATTTTCATTTTAGCTGGCTGTTTGACGATAGT AATGCTCTGGATCTCTTTTCATAGATACAAGTGTATCTGTGACCCATAAT TATATCTACGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACA TTGCGAAATCCCGAAAATGTGGAGAAAGCTGAAGTTTCCAATGTAAAAGT AACAAGAATGTCATGGACTAGAAACATAAAGTATTTGAGTTTTCCTTTCT GTTACTTTTATTACAATAAAAAAGGAGACAGCAGGATAAGTACTTTAATA TTGTGTTTCTCATGTGTTTTTGAAAATGTGTAGTAATACTTCAATAGTTT TGGTTTCCTTTTATTTATTGATTGATTTTTTAAGATTCCACCTTAGGGGC CTGTTGGGTAGCAAAGGGATTATGTTGTCCTTGACGTTAAGGGAATTAGC CAAACATAGACTTCCTGTTCATTCTTGATTTTTTTCCATGTCATATATGC CTACAAATATTTTTAAGTGACTTTTTATGTTAATGTTTTTTTTGTTGTTG TTTCCTTCTTGTTAACCCGATTATAAACTCCCATGGCAGCAACAGTGCCT TTTTTGTCCTCAGGTTTTTATGTGCTTAAGCAATGGCAGGTCTACATAAT GATAGACTATATAATCAAAGAAAGGGAGTATTCACGTGACTTTAGAATTA GCATGTGTCTGCACAGAATATGCCTCTGGCTTTACCAGCAGTAGAAAATT TATAGAAGAGAAACAGAAATGCTTTGCTGTTAATGACGCCTAAATAAGAA TAGGAGTAAAGGAGAGTATTACCTCCAACTCACCGGAGCTGCTTTCCCCC TTATAAGCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGC CTACTTTATTCTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCTTTATTT GAAATGATTGCCACATGCCTCCTCATATAAATGGCTGACTTCTGGATATA TTCTGGTTCTGGAATGGGCAGATTTCTGACGTGGTTTAGTATATATATAT AAACCCGGTGAGTTTCTGGCATGTAATTTCTCTGATCGTGGTTACATTGA TATTTAAAGTAGGGTTTGACATAGTGTGTCACTTACTGTTGATAAATATC GTTTATTTTCTTCTTAGTTCATTTCATTGATGTGTTAGCTTAAAAGACAT TTTCTTTGACAGAAAATGAAGTAATGAAATAATAGTGAAATCGTTCTGCT GTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTAT ACCTCTTCTTTTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCCCTACTT GTTTCTCTCGTTTACTGTGAGGCATTAGTGATTCTGGGTGTATTCATGTA TGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTGTTGAAACATGTCA GACATTATACTTTTTATTCTCCAGTATTGGAATATAGACTGCAATTAGTT TTTTGGAATGAAATACAGACAAAGCCATAACATCTATAGAACTACATATT ACCCTACAATATTGTCTGATACAAAACAGTCTGGAAATATTCTTACAGCG AAATTGCAAATGTATTGATTTACCTTACATTGCAATCTGTCTTAGTGGAA CCTTATCACCAGTGTAAGACATAATTTCTGGGTGTGAATAAGTACACAGT ATAAGGTAAATTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTTCCCCCT TCACACCCAAAGTGTAGCACTTGACATAGAATCTTTCTTTCCTCATAAAG TCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAAGGATATTTTCC GTTTTGTAATATTTTTCTTATATTGGGAATTATATTTCTTTCTAATTTTA AAATGTGGTTTACCATATTCATTTTTTCTGCAACCTTTTCAGGCATTTCC TGCTTATCCAAATTCACCAGTTCAGGTCACCACTGGATATCAGTTGCCTG TATACAATTATCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCTTTCAGG TATTATTGAGGCCTTTAACTTGTTTATAGAAATTTCCTGAATAGTTGGTC ATTTTTAACTAGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTAGTGTAG AATGAAGACCTCTGTCTTATTTAGAAGTAATGAAGTAATATTTTTACAGG AATATCCTTGGCAATAACATTTGTGTAGAAGAGATTTCTGAGATTTGGTG TCCCCTTCTTCATTTGTGGATATAGTTTTCATCTTTGCTGTCAAATAGCT GAATGAAACATCCAAACTGACTTTCATGAATTTTTTTAGGGAGATAGAGT GAAATAAAATTATGATCCACTTTTCAGAGCACAGAATTCCAATTATATTT TCATTTTAGCTGGCTGTTTGACGGTAGTCATTCTCAGGATCTCTTCTCAT AGATACAAGTATATCTATGACCCATAACTATATCTATGGTAATAAACTGA AAGAGCTAGTATTTTTGAGGTTTCCACATTGCCAACTCCCAAAAATTTGG AGAAAGGTGAAGATTCAAATTTAAAGTAACAAGAATGTCATGGACAAGAA ACATAAAGTACTTAAGTTTTCCTTTCTGTTACTTTTATTATAATAAAAAA GGAGACAGCGGAATAAGTACTTCAATACTGTGTTTCTCATGTGTGTTTGA AAATATGTAGGAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTTTTTTTT TTTTAAAGATGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGATTATGTT GTCCTTGACGTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTT GATTTTTTTTCCATGTCATATATGCCTATAAATATTTTTAAGTGACTCTC TATATTAATGTTTGTTGTTGTTGTTGTTACTTTCTTGTTAACCCGAGTAT AAACTCCCATGGCAGCAACAGTGCCTTTTTTGCCCTCAGGGTTTTATGTG CTTAAGCAATGGCAGCTCCACATAATGATAGACTATATAATCAAAGAAAG GTAATATTCACGTGACTTTAGAATTAGCATGTAGCTGCATAGAATCTGCC TCTGGCTTTACCAGCAGTAGTAAATTTATAGAAGAGAAACAGAAATGCTT TGCTGTTAATTATGCTTAAATAAGAATAGAAGTAAAGGAGAGTATTACCT GCAAATCACCAGAGCAGCTTTCCCCCGTATAAGCAGTTCCTAAAGTGAAT GAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCCGTAAGTTTA GCAATTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGCCTCCTC ATATAAATTGCTGACTTCTGGATATATTCTGGTTCTGGAATGGGTAGATT TCTGATGTGATTTAGTATATATATATAAACCGCTTGAGTTTCTGGCATCT AATTTCTCTGATCCTGGTGACATTGATATTTAAAGTAGGGTTTGACATAC TCTATCACTTACTGTTGATAAATAACGTTTATATTCTTCTTAGTTCATTT CATTGATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATGTAGTAA CAAAATAATAGTGAAATAGTTCTGCAGTGTTTCTAATTTGTTGATATTTT CCATGTACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTCTCTGAA CCATGGCTAGAAAAAAAGCCCTACTTGTTTCTCTCGTTTACTGTGAGGCA TTAGTGATTCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAAA CAATAAGAATTTGTTGAAACATGTCAGACATTATACTTTTTATTCTCCAG TATTGGAATATAGACTGCAATTAGTTTTTTGGAATGAAATACAGACAAAG CCATAACATCTATAGAACTACATATTACCCTACAATATTGTCTGATACAA AACAGTCTGGAAATATTCTTACAGCGAAATTGCAAATGTATTGATTTACC TTACATTGCAATCTGTCTTAGTGGAACCTTATCACCAGTGTAAGACATAA TTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAGTAG TCAATTCT	C C	exon_loss_variant exon_loss_variant	HIGH	HG01074.hp2 HG03471.hp1 HG01074.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0024 a0001c0001t0001g0028	2	41	0.0488	-4757	c.149 others(18): Show c.1498-210_1641+2098del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	19/29					INFO_REALIGN_3_PRIME	chrY	TogoVar
NBPF19_chr1_149470045_149561361	149492561	CTCTCTCT others(4750): Show CTCTCTCTCTCTCTCTGTCTTTCTCTTTCATTGTTTTCTACCTGGCCCTG TTCTATCCCAACATAAAGGCAGTAATTTGTTACCTCATTAATGGATCTGT CCTTTTTCTTTTCAAACTCTTCCTTAACGTTAGCCATGAAATCTAGCTGG GGCTGTGCGGTTTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCCACT TTTCCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGGGCCTGAAGTCTTG CAGGACTCACTGGATAGATGTTATTCAACTCCTTCAGGTTGTCTTGAACT GACTGACTCATGCCAGCCCTACAGAAGTGCCTTTTACATATTGGAGCAAC AGTGTGTTGGCTTGGCTGTTGACATGGATGGTGAGTACCTTTCTATGAAG GTGATAAGGATCCACTGAGTCTTCTGGTTAGGGTCATATTCCTACTGCAA GTGGCCCTTACTGAGCTGAGAGATGTCATTGCCACAGGGAGGACCTATAG GCACATGTAGGTTGAATGAAACTCTAGTTCCACTTGGCAGCCCAGACAAG GGATGGGTCAGTGAGCAAGGCTCTCTTCCTAGTCTCAGGCCATGCCTGTG GCGCCCTAATCCTACTCTCATGACATTGGACCTGGGCAGATGTGACAAAT TCACACAACTCTGATTTTGTCTCAATTTTGTAGATCTTGTAGATTTCATC CTTCACTCTAATTTCAGCGTCTAAAATCCTCGCTACCATGAACAATCTGA GTATTTGATGAGACAGGGCTGAATAGTGCAGTTTTTCTCCTAGCAACCAT TTGGGGGTATTTGCTTTAAATCGATTGGAAAAATATGGCATAACCATTTG CACAAACTTGGGACAAATGATATTGGGATAACGATCTACCAGAATAGGGA ATTTTACCCACAGTTTCTGGGACAAAAACCAAGGAATCTCTATGGTGATC AGCCTTCAGGCCTCCTGAAGAATATCTCTCACAGTGTCCTATTCTCATGC TGAGGAGCCTGAAGTCTCTGTGTGAGGATTAGACAGTGGATTGTTATGTG TGTAGGAGAACCAGCTTCATATGTCTGTCCATGTCTGAACTTATTGCAGA AATTGAAAAGTACCAAGAAGTGGAAGAAGACCAAGACCCATCATGCCCCA GGTAACTTTGAGCAATTATGGATGCTTAATTCTGTGTTGACACCTGGAGA TGCCAGGTCCAGGGAAAACAAGAGTGTGTTCAATTTCATGTTTTCAACGA AGGTTGAATTACTCCTACTGACATGGCTGTTGGTTTTCATTGCAGTAGAT GTTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAACTTACTATAG GTTGACCATACCTCAAAGGCTGTATGGCAACTGCATGGAATCTTGAGCAA GTTTATGGAAAATTATTGAGCCCACTCTTTTCATGATCACTGTTCGCTGT GTGTCCCGAGGGCACTAACTCAGAGTGTCCTTTGACCCCTTCATCAGTGT GTCACCCGGCCAACTCGCTGAGCTCACTTTCTCCTCTCTCTCTCTCTCTC TCTCTCTCCCTCTCCCTGTCTTTCTCTTTCATTCTTCTCTACCTGGCCCT GGTCTATCCCAACATAAAGGCAATAATTCATTACCTCATTAATGGATCTG TCCTTTTTCTTTTTAAACAGTTCCTTATGTTAGCCATGAAATCTAGCTGG GGCTGTGTGGTTTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCTACT TTTCCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGAGCCTGAAGTCTTG CAGGACTCACTGGATAGATGTTATTCGATTCCTTCAGGTTATCTTGAACT GCCTGACTTAGGCCAGCCCTACAGCAGTGCTGTTTACTCATTGGAGGAAC AGTACCTTGGCTTGGCTCTTGACGTGGACAGTGAGTACCTTACTATGAAG GTGATAAGCCTCCACCTGGTCTTCCAGATAGGGGTGATATTCCTGTTCCA AGTGGCCCTTACTGACCCGAGAGATGTCATTGCCGCAGGCAGGACCTGTG GGCGCATATAGGTTGTAATGAAACTGTAGTCTCAGTTGGAAGCCTAGACA TGAAATGGGTCAGTGAGCAAGGCTCTATTCCTAGTCTCCAGCCATGCCTG TGGCAACCTGAGCCCGCTCTCAGCACATTGGACCCAGGCAGATGCAAAAA ATTCACAGAACTATGATTTGGACTCAAGGGTTTGTAGATTTCCTCCTTCA TTCTAATTTCAGTGTCTAAAATTCTTGCATCCATGAACGAGCTGGGCATT TGATGAGACAGGGCTGAATACTGCAGTTTTCCTCCTAGAAATCATCTGGG GCATTTTCTTTGAACTGATGGGAACAATAAGGCATAACTGTTTGCACAAA CTTGGGATAAGTGATTTTGGGATAACGATCTACCAGAATGGGGATATTTC ACCCTTGGTTCTGAGATGCAAACCAAAGAATATCATGACCAGCTTTCAGG CCTCCTGAAGTATATCTCTCACATTGTCCTGTTCTCATGCTGAGGAGCCT GAGATCCCTGTGTGGGGATTAGACAGTGGACTGTTATGGGTGTAGGTGAA TTGGCTTATTTTGTCTGTCCCTGTCTGAATGTATTGCAGGAATTAAAAAG GACCAAGAAGAGGAAGAAGACCAAGACCCACCATGCCCCAGGTAACTGAG CAATTGTGAACAGCTACTTCTGTGTTGACATCTGGAGACTACTGGTTCAG GGAAAACAGAGCGGGCTGACATTATCGATTACATCTTTTCAAGCAAGCCT GAATTATTCCTACTAACATTGCTGTTGGTTTTCATTGCAGTAGATATTTA GGTTTCCATTTCTTCCTCCCCTTATCATTTACTAACCTACTGTAGGTGGA CCAGACTTCAAAAACTGTATTCTCATGGCGACTGCATGGAAACTTGAGCA CATTTTATGGAAAATTATTGAGCACAGTCTTTTCATGATCACTGTATGCT GTGTGTCCTGAGGGCACTAACTCAGAGTGTCCTGTTACTCCCTCATCAGT GTGTCACCTGGACAATTCACTGAGCTCGTTCTCTCTCTCTCTCTCTGTGT GTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTCCATCT GTCTTTCTCTTTCATTCTTTTCCATTTGGCCCTGTTCTGTCCCAACATGA AGGCAATAATTTGTTACCTCATTAATGGATCTATCCTTTTACTTTCTTAA CCACTTCCCTATGCTACCCATGAAACCTAGTTGGGGCTCTGTTGTGTGTG ATTTCCCCTGGCTTATTCTTTACTTTTTCCTCCTTTTCCAGGCTCAGCAG GGAGCTGGTGGAGGTAGTAGAGCCTGAAGTCTTGCAGGACTCACTGGATA GATGTTATTCAACTCCTTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAG CCCTATGGAAGTTCCTTTTATGCATTGGAGGAAAAACATGTTGGCTTTTC TCTTGACGTGGGAGGTGAGTACCTTTCTATGAAGGTGATAAGCATCCACT GAGTCTTCCATATAAAGATCATATTCCTGCTCCAAGTGGCCATTACTGAG CTGAGAGATGTCGTTGCCGCAGTGAGGACCTATAGGCACATGTAGGTTGA ATGAAACTCTAGTTCTACCTGGAAGCCCAGACAAGGGATGGGTCAGTGAG CAAGACTCTCTTCCTAGTCTCAGGCCATACCTGTGGCGCCCTGATCCTAT TCTCATGACATTGGACCTGGGCAGATGTGACAAATTCAGAGAACTATGAT TTTGACTCAAGGGTTTGTAGATTTCCTTTTTCACTCTAATTTCAGTGTCT AAAGTCCTCACAACCATGAACAATCTGAGTATTTGATGAGACAGGGCTAA ATATTGCAGTTTTTCTCCTAGAAATCATTTGAGGGTATTTGCTTTAAATT GATTGGAAAAATATGGCATAACTGTTTGCACAAACTTGGGACAAATGATA TTGGGATAACGATCTACTAGAATAGGGACATTTTACCCACAGTTTCTGGG AGAAAAACCGAGGAATTTCTATCATGACCAGCCTTCAGGCCTCCTGAAAT ATATCTCTCACAGTGTCCTATTCTTATGCTGAGGAGCCTGAGGTCCCTGT GTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGGGAATCAGCTTAATG TGTCTGTCCATGTCTGAATTTATTGCAGAAATTGAAAAGAAGGGGAAGGG GAAGAAAAGAAGGGGAAGAAGATCAAAGAAGGAAAGAAGAAGGGGAAGAA AAGAAGGGGAAGAAGATCAAAACCCACCATGCCCCAGGTGACTTTCAGCA ATTGTGGATGCTTAATTCTGTGTTAACACCTGGAGGCAACAGATTCAGGG AAACCAGAGTGTGTTTGATGTCATGTTTTCAACGAAGGCTGAATTACTCC TACTGTCATTGCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATT TCTTCCTCCCCTTATCATTTCCTAACGTACCATAGGTTGACCATACTTCA AAAGCTGTACTCTCATGGCCACTGCATCGAATTTTGAGCATATTTTATGG AAAACTATTGAGCTCACTCTTTTCATGATCACAGTTTGCTGTGTGTCATG AGGGCACTAACTCAGAGTGTCCTTTTACTCCCTTACCAGTATGTCACCTG GCCAATTCACTAGGTCACTTTCTCTCTGTCTCTGTCTCTCTCTCTGTCTC TGTCTCTG	C C	exon_loss_variant exon_loss_variant	HIGH	HG02647.hp2 NA19043.hp2 HG02647.hp2 NA19043.hp2	a0092 a0177 a0092 a0177	a0092c0120 a0177c0075 a0092c0120 a0177c0075	a0092c0120t0001 a0177c0075t0001 a0092c0120t0001 a0177c0075t0001	a0092c0120t0001g0141 a0177c0075t0001g0146 a0092c0120t0001g0141 a0177c0075t0001g0146	2	276	0.0073	-4757	c.177 others(17): Show c.1773-136_2505-137del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	16/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
NRXN3_chr14_78165373_79873291	79759196	CAGAACTT others(4750): Show CAGAACTTCTTGTTATAACTGGGTAGTAAACATACTTTTTAATAAGAAGT GGCTAAGGCTTAAGAAGACCAACTGCTGATACCCAGAAATAGCCAAAGAA TACTTCATTACTGACAGTGCACACTTTGATAGACCTGTCTTTTACTATTG ACAGTATTCTTTCTCTGCTGTTTTTACAAGAAAAAAAGCCCAATGAAATG TAAACCTTGTTTTCTTCAGTTATTGGTCCTAGGAGTATTCAGAGTAAATA AAAAAAAAATACCTTACGTATACTTCTATAAAATCTTTTATTTGAGCAAT TAAAAAAAGCTATCTTCTTTCAGTCTTATCAAGGAGAGCAAATTCCTCCT AGAAGTCTTATTTCTACTTCTAATGACAATTGCTTTATTATGTGACATTC AAAGGAAAAACTTGAAGTCATATTTCTAGTAAAGTATTTAATTTCAGAAA TAATTTAAACTGTTACTTCAAAGCAAATATCTGCTATTCCTGACATAAAG TTTTTACCCAAGCTTGGTAATAAAGTTATCATAAGAATAATATGGATTAT TCTCAGGATGGAATAGAATGTCTTGATTAGGAAGAAACACACATAAGAAA TTCATTTTTTTGGAAGAAAGAAAATCTGTGCTGTTTATCTGGCAATGGAA GTCAGATCAAAATATATCTATATGACATTTGAATGGGGTCACGTGGGAAG ACAAGATCTGTCTGTATGAATATTTTTAGCTTCTGAATTTGACATAAGAA TAGGATCAGGAAAATGAATTCTGTGTTACATGACTAAGATGCATATTAGA ACTCAGGCAAGATGATTCCTGTAGTTGGTCTACTGGGAAATTACCCTCTG CCTACAGCTTTCAAATACATATATATACTATGTGTGTGCATGTGTGTAAA TTTCCAACTGAGTACATCAGCACATAAAATACACTTGTCCAAGGTAAAAA AGACAAACAGTTATTAATAGGGCAAAAATAAAATGGGGTTATATCCAACC ATGGCATAATACTTCTCATTAGAAAAAAGTGTGGCGAGCTAATTAAGACC CAGTGATAGTTAGAAAGTCTGAGAACATTTATCTTTAAAAATGGAGTGGT AACTAACTAAAAGAAGGACCCAGAACCTCCTAATACAAATATCAGTTATA TTCCCTGAGATTTAAAAATATAATAATTCTTATTTCTAATTCAAAGGCCT AGAGTGTAAGTAGGGATAACTTAACCTTTTTTTTTTTTTTTAAGCCTCTG TGAGAAATAACGCAGCTGTTTGGCCCGTGGTATTCTCTTTAAAGGAAAGA AGTTACAAAGACAAGAAGAAAAAAGTGGAAGAGAAAAATAAGGAGAAAAA ATATTCAAACAGTACATAACTAAAAAAAAAATTTTTCACAAACAGCAAGG GGAATCTTGAAACAAAATAGATTTGTTTTAAAATGCAAAGAAAGAGCCTT ACCCGGGATGAATTGCTCAGTTCTCTTTTGTTGGTTGAGTTCACTTCCTT CCATTTCTGCTAACTTTGACCAGCTGCTAACAAGCAAAAGAGCTTCATAG AGGCCATCTACACGTGTTCTCTTCTGGGTTATCGCGATGCTGACAAAGTG CACCTACCGCAAATTAGAAGAGCACAAAGATTTCTGTGGGTATGCCTGCA AAACTCTGGCTGCGAGGCATCACCTCAGCTCAGTAGCCTTGGATTTACAT GTGCCTGCCCCCCTGCCCATGGTTACTGAGGGTGGCCTGAGGATGGATTC ACTTCATAACCCTTTTCCATAATTATGTGAATAACAAATGAGCTCTATCC AATAGAGAAAAAGAACACATTTTAATACTTTGTGAAGTGATCATGAGGAA GGGGACAGAGGAGTTGAGATGGCCAAGAGAGATCCCGCCCTCTGGAGATG TAATAGAACAGTGACAGATAATGCAAAAAAAGATTTAATATATTTTTATA TATTTAATATTTGTCTTCTGTTGTTGACCTTAGCTTTTGAGTCAACAGTA ACTAAGAAGCATTTTGTCATCCGACGGCTCCTCTTCCTTTGGCCTTCTGT ATTGTATTATCTGATAAGGAAGCAGCGAACTTAAAGCTCAGTTCAACGCA ATGATCCTTCATCATAGCTGGGTGTGAAGAATGTTGTTCCCTCAAATATG ACACAAATTGTTTGGTCAATAGAGAAGAGAACTGCATTCTATTTTTTTCC AAACATCTGTTATACTCCAAAACCTTTCTCCTTAGGCCATGGCTGTCTGA CCAACAGTAGGTGGATTTCTTTGAAATCTTATCTTCTGTAGAACTGGATC TCATCCTGGCCAACATGGTGAACCCAGTATCTACTAAAAATACAAAAATT AGCTGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCCAAGATGGCACC ACTGCACTCCAGCCTGGCAACAAAGCGAGACTCTGTCTCAAAAAAAAAAA AAAAAAAAAAAAAATAGATCTCACTAGAAGTATTCTCAATTCAGCAGTAG TGTCCAGTTTTGAATCAAATAATTTATATTTTGATTATGTGTATTAAGAA GCTAAATCTACTCATATACAAAAGGAAAATCTTTAGCTTTTCATGTGTTC TGGCTAAAGGCCAGAATTAAAAGGAAGAGGATGTCTTATCTATCAGACAT TTTTGTGCCTTTGAAGCCATAAACTTGAGAGAAACATTAGCTTGTTCCTG ACCCTGCACTCAGCATAAGCATTTGCTTGTAGCAGTCACTCTTGGGTGAC TATAAATTCACAAAGTCAAGAATTTGCATCCTGAATTGATTTGTGTAAGA TGTCTAGGGGAATGCTGATTTTATATTGGAAACAAGGTTAGGGGGAAGCC TCAAAACTGCCTTTATGGAGTTCTGTATCTCAGCATATTATAATTCTTAC TTCTACCATACTCCAGAGGAATCAGTCTGGGTGACTTCATAAAACAGTAT TAGAAAAATTGCTAGCACTACGAAATCAAGCAGGTTATGGCAGTATATTC CTTGTAAGAAAATTAGTGCATTAACTCTTTCCAATAAGTGATTGAATTAG TTTTGCACATAATCTGATTTATGAAATGCTGCACTCGCATGCTCAAGTAG TTAGAAAGTGTGTCGAAGCAGATGTTGAACTGAAGAAAGAAGGTTGCTTG AAATGTAAAGGTATTATAAAATGGCTAATCTGTGGGTATGACCCAAAGCT TTCAGAGATTTCCTGGCTTCACTTTTTTTTTTTCAATTTAATAAATTTTT TTTCTTAAAAGGTAAAATTGCCAATGAGTTAAATGTTGATGCTCTGATGT TAGCAAGACTGAGTTCATATGTCCATCGCTTATTAACTCCATTTTCTTAT CAATATGTTTGGCTTCTGTAAGTCTTATTTTCTTGTTTGTGAAAGGAAGA TCTAATAATAGAACTGGCCTTATAGAATTGTTGTGAGGATTAAATGTGGC AACCCATGGTTATTGGTTTCGTGCGATGCCTGTCACAAAGAAAAAACCCA ATAAGTTGTAGTGGCTATTTTTCATCTTCTCATTATCACCATTACTTAAG AGAGAGGCAAAGTGATAGTATCATACAAACATTTTCATGGAGAGTTAAAT GAACATCTGTTTTTTCTTTTCTTCAATTTTTTAAAAATTATACTTTAAGT CCTGGGGGACATGTGCAGAATATGCAGGTTTGTTACATAGGTATACACGT GCCATGGTAGTTTGCTGCACTCACCAACCTGTCATCTACATTAGGTATTT TTCCTAATGCTATCCCTCCCCTAGCCTCCCACCCCCTGACAGGCCCTGGT ATGTGATGTTCCCCCCTCCCTGTGTCCATGCGTTCTCATTGTTCAACTCC CACTTATGAGTGAGAACATACGGTGTTTGGTTTTCTGTTCCTGTGTTAGT TTGCTGAAAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGATAT GAACTCATCCTTTTTTATGGTTGCATAGTATTCCATGGTGTATACGTGCC ACATTTTCTTTATCCAGTCTATCACTGATTGGCATTTGGATTGGTTCCAA GTCTTTGCTGTTGTGAATAGTGCTGCAATAGACATACATGTGCATGTGTC TTTATAGCAGAATGATTTATACATACGTGTGCATGTGTCTTTATAGTAGA ATGATTTATAATCCTTTGGGTATACACCCAGTAATGGGATTGCTGGATCA ATTGTTTTTAAGGACAGGTTGCATAAAACTGACTAATGCCATTCATGACA GTGAGTTTCAAAGGCAGATAGCTATCTTAGTCCATTTAGGGTGCTCTAAC AAAATGCCACAAAGTTAGGTACATTATAAACAACAGAAATGTATTTGTCA CGGATCTGGAGGCTGGGGAGTCTGAGATCAAGACCCTGGCAGATGTGATG TCTGGTGAGAGCTTCTTCCTGGTTCATAGATGGCGACTTCCAGTTATGTC CTTACATGGTGGAAAGGACAAGGGGTCTTTCTGCGACCAGTTTTTCAAGA GAATTAATCCCACTTATGAGGTCTCTGCCATCATGACCTAATCACTTCCC CAAAACTCCACCTCCTGATACCATTACACTGGTGATTAGCTTTCAATATA TAAATTTGGGTGGCGGGGTGGGGCACACACATTCAGATCATAGCAATGGC AGCTAGGAGGAAGTAAATTTTGAATCCTCATTTCCATGTAAAGACTTCAT TTGCTTTA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0004 a0001c0001t0014g0004	1	24	0.0417	-4757	c.401 others(21): Show c.4015-45914_4015-41158del		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
DAZ3_chrY_24758069_24818393	24782239	TAGATGTT others(4749): Show TAGATGTTATGGCTTTGTCTGTACTTCATTCCAAAAAACTAAGTGCAGTC TATAATCCAATACTGGAGAAGAGGAAGTATAATGTCTTATATGTTTCAAT AAATGCTTATTGTTTGAAAACATACAGGCAGTAGCATACATGAATACACC CAGATTCAGTAATGGCTCACAGTAAATGACAGTAACAAGTAGAGCTTTTC TTCTACCCATTGTTCAGAGAAGGAAAAATAAGAGGTATACCATACATGTT TCAAGTACATGGAAAATATCAACAAATTAGAAACACTGCAGAACTATTTC ACTATTATTTTGTTACTACATTTTCCATCAAAGAAAATGTCTTTTAAGCT AACACATCAATGAAATGAACTAAGAAGAATATAAACGTTATTTATCAACA GTAAGTGATAGAGTATGTCAAACCCTACTTTAAATATCAATGTCACCAGG ATCAGAGAAATTAGATGCCAGAAACTCAAGCGGTTTATATATATATACTA AATCACATCAGAAATCTACCCATTCCAGAACCAGAATATATCCAGAAGTC AGCAATTTATATGAGGAGGCATCTGGAAATCATTTCAAATAAAGGATAGC TAGATGAATTGCTAAACTTACGGAAGAATAAAGTAGGCAGACACATAAGG AGAGCTGCTTTCATTCACTTTAGGAACTGCTTATACGGGGGAAAGCTGCT CTGGTGATTTGCAGGTAATACTCTCCTTTACTTCTATTCTTATTTAAGCA TAATTAACAGCAAAGCATTTCTGTTTCTCTTCTATAAATTTACTACTGCT GGTAAAGCCAGAGGCAGATTCTATGCAGCTACATGCTAATTCTAAAGTCA CGTGAATATTACCTTTCTTTGATTATATAGTCTATCATTATGTGGAGCTG CCATTGCTTAAGCACATAAAACCCTGAGGGCAAAAAAGGCACTGTTGCTG CCATGGGAGTTTATACTCGGGTTAACAAGAAAGTAACAACAACAACAACA AACATTAATATAGAGAGTCACTTAAAAATATTTATAGGCATATATGACAT GGAAAAAAAATCAAGAATGAACAGGAAGTCTATGTTTGGCTAATTCCCTT AACGTCAAGGACAACATAATCCCTTTGCTCCCCAACAGGCCCCTAAGGTG GCATCTTTAAAAAAAAAAAAAAAAAAAGGAAACCAAAACTATTAAACTAT TCCTACATATTTTCAAACACACATGAGAAACACAGTATTGAAGTACTTAT TCCGCTGTCTCCTTTTTTATTATAATAAAAGTAACAGAAAGGAAAACTTA AGTACTTTATGTTTCTTGTCCATGACATTCTTGTTACTTTAAATTTGAAT CTTCACCTTTCTCCAAATTTTTGGGAGTTGGCAATGTGGAAACCTCAAAA ATACTAGCTCTTTCAGTTTATTACCATAGATATAGTTATGGGTCATAGAT ATACTTGTATCTATGAGAAGAGATCCTGAGAATGACTACCGTCAAACAGC CAGCTAAAATGAAAATATAATTGGAATTCTGTGCTCTGAAAAGTGGATCA TAATTTTATTTCACTCTATCTCCCTAAAAAAATTCATGAAAGTCAGTTTG GATGTTTCATTCAGCTATTTGACAGCAAAGATGAAAACTATATCCACAAA TGAAGAAGGGGACACCAAATCTCAGAAATCTCTTCTACACAAATGTTATT GCCAAGGATATTCCTGTAAAAATATTACTTCATTACTTCTAAATAAGACA GAGGTCTTCATTCTACACTAAGTCTTTCCTTAAATTTTAGGGACACTTCA CTAGTTAAAAATGACCAACTATTCAGGAAATTTCTATAAACAAGTTAAAG GCCTCAATAATACCTGAAAGCAAACCATTTTACTACCTCTTACATTACCT GATAATTGTATACAGGCAACTGATATCCAGTGGTGACCTGAACTGGTGAA TTTGGATAAGCAGGAAATGCCTGAAAAGGTTGCAGAAAAAATGAATATGG TAAACCACATTTTAAAATTAGAAAGAAATATAATTCCCAATATAAGAAAA ATATTACAAAACGGAAAATATCCTTTTTCTACATACAACAATGCAGAATT CCAAATGAATGACTTTATGAGGAAAGAAAGATTCTATGTCAAGTGCTACA CTTTGGGTGTGAAGGGGGAACAAATGACAAAGAACTGACTACTTCACCAA AATTTACCTTATACTGTGTACTTATTCACACCCAGAAATTATGTCTTACA CTGGTGATAAGGTTCCACTAAGACAGATTGCAATGTAAGGTAAATCAATA CATTTGCAATTTCGCTGTAAGAATATTTCCAGACTGTTTTGTATCAGACA ATATTGTAGGGTAATATGTAGTTCTATAGATGTTATGGCTTTGTCTGTAT TTCATTCCAAAAAACTAATTGCAGTCTATATTCCAATACTGGAGAATAAA AAGTATAATGTCTGACATGTTTCAACAAATTCTTATTGTTTGAAAACATA CAGGTAGCAGCATACATGAATACACCCAGAATCACTAATGCCTCACAGTA AACGAGAGAAACAAGTAGGGCTTTTTTTCTAGCCATGGTTCAGAGAAGGA AAAAGAAGAGGTATACCATACATGTTTCAAGTACATGGAAAATATCAACA AATTAGAGACACAGCAGAACGATTTCACTATTATTTCATTACTTCATTTT CTGTCAAAGAAAATGTCTTTTAAGCTAACACATCAATGAAATGAACTAAG AAGAAAATAAACGATATTTATCAACAGTAAGTGACACACTATGTCAAACC CTACTTTAAATATCAATGTAACCACGATCAGAGAAATTACATGCCAGAAA CTCACCGGGTTTATATATATATACTAAACCACGTCAGAAATCTGCCCATT CCAGAACCAGAATATATCCAGAAGTCAGCCATTTATATGAGGAGGCATGT GGCAATCATTTCAAATAAAGGATAGCTAGATAAACTGCTAAACTTACCGA AGAATAAAGTAGGCAGACACATAAGGAGAGCTGCTTTCATTCACTTTAGG AACTGCTTATAAGGGGGAAAGCAGCTCCGGTGAGTTGGAGGTAATACTCT CCTTTACTCCTATTCTTATTTAGGCGTCATTAACAGCAAAGCATTTCTGT TTCTCTTCTATAAATTTTCTACTGCTGGTAAAGCCAGAGGCATATTCTGT GCAGACACATGCTAATTCTAAAGTCACGTGAATACTCCCTTTCTTTGATT ATATAGTCTATCATTATGTAGACCTGCCATTGCTTAAGCACATAAAAACC TGAGGACAAAAAAGGCACTGTTGCTGCCATGGGAGTTTATAATCGGGTTA ACAAGAAGGAAACAACAACAAAAAAAACATTAACATAAAAAGTCACTTAA AAATATTTGTAGGCATATATGACATGGAAAAAAATCAAGAATGAACAGGA AGTCTATGTTTGGCTAATTCCCTTAACGTCAAGGACAACATAATCCCTTT GCTACCCAACAGGCCCCTAAGGTGGAATCTTAAAAAATCAATCAATAAAT AAAAGGAAACCAAAACTATTGAAGTATTACTACACATTTTCAAAAACACA TGAGAAACACAATATTAAAGTACTTATCCTGCTGTCTCCTTTTTTATTGT AATAAAAGTAACAGAAAGGAAAACTCAAATACTTTATGTTTCTAGTCCAT GACATTCTTGTTACTTTTACATTGGAAACTTCAGCTTTCTCCACATTTTC GGGATTTCGCAATGTGGAAACCTCAAAGATACTAGCTCTTTCAGTTTATT ACCGTAGATATAATTATGGGTCACAGATACACTTGTATCTATGAAAAGAG ATCCAGAGCATTACTATCGTCAAACAGCCAGCTAAAATGAAAATGTAATT GGGATTCTGTGCTCTGAAAAGTGCAGCATAATTTTATTTCAGTCTATCTC CCTAAGAAAATTCATGAAAGACACTTTGGACGTTTCATTTAGCTATTTGA CAGTAAAGATGAAAACTACATCCAGAAATGAAGAAGAGAACACCAAATCT CAGAAATCTGTTCTACAGAAAAGTTATTGCCAAGTATATTCCTGTCAAAA TACTACCTCATTATTCTAAATAACACAGAGGTCTTCATTCTACACTAAGT GTTTCCTTAAATTTTAGGTACAATTCACTAGTTTAAAATGAGCAACTATT CAGGAAATTTGTATGAACAAGTTAAAGGCCTCAATAATACCTAAAAGCAA ATCATTTTACTCCCTCTGACATTACCTGATAATTGTATACAGGGAACTGA TATCCAGTGGCGACTTGAAATGGTGAATTTGGATAAGCAGGAAATGCCTG AAAAGAAAGGTTCCAGAAAAAAATGAATACGGTAAACCATTTTTTTAAAA TTAGAAAGAAATATAATTCTGAATATAACAAAAATAGGTAAAATATTGTT TTTCTACATACAATAATGCAGAATTCTAAATGAATGACTGACTTTATGAA GAAAGAAAGATTCTATGACAAGTGCTACACTTTGGGAGTGAAGGGGGAAC TAATGACAAAAGAATTGACTATTTCACCAAAGTTTACCTTATACTGTGTA CTTATTCACACCCAGAAGTTATTTCTTACACTGGTGGTAAGGCTCCATTA AGAGAGATTGCAAGGTAAGTTAAATTAATACATTTGCTATTTCCCTGTCA GAATATTTCTAGACTGTTTTGTATCAGACAATATTATAGGACAATATATA GTTTGAC	T T	exon_loss_variant exon_loss_variant	HIGH	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0012 a0004c0004t0001g0012	1	45	0.0222	-4756	c.100 others(18): Show c.1003-410_1146+1897del		DAZ3	ENSG00000187191.16	transcript	ENST00000382365.7	protein_coding	15/19						chrY	TogoVar
DAZ3_chrY_24758069_24818393	24788154	AAAAAAAA others(4749): Show AAAAAAAAAAAAAAAAAAAGGAAACCAAAACTATTAAACTATTCCTACAT ATTTTCAAACACACATGAGAAACACAGTATTGAAGTACTTATTCCGCTGT CTCCTTTTTTATTATAATAAAAGTAACAGAAAGGAAAACTTAAGTACTTT ATGTTTCTTGTCCATGACATTCTTGTTACTTTAAATTTGAATCTTCACCT TTCTCCAAATTTTTGGGAGTTGGCAATGTGGAAACCTCAAAAATACTAGC TCTTTCAGTTTATTACCATAGATATAGTTATGGGTCATAGATATACTTGT ATCTATGAGAAGAGATCCTGAGAATGACTACCGTCAAACAGCCAGCTAAA ATGAAAATATAATTGGAATTCTGTGCTCTGAAAAGTGGATCATAATTTTA TTTCACTCTATCTCCCTAAAAAAATTCATGAAAGTCAGTTTGGATGTTTC ATTCAGCTATTTGACAGCAAAGATGAAAACTATATCCACAAATGAAGAAG GGGACACCAAATCTCAGAAATCTCTTCTACACAAATGTTATTGCCAAGGA TATTCCTGTAAAAATATTACTTCATTACTTCTAAATAAGACAGAGGTCTT CATTCTACACTAAGTCTTTCCTTAAATTTTAGGGACACTTCACTAGTTAA AAATGACCAACTATTCAGGAAATTTCTATAAACAAGTTAAAGGCCTCAAT AATACCTGAAAGCAAACCATTTTACTACCTCTTACATTACCTGATAATTG TATACAGGCAACTGATATCCAGTGGTGACCTGAACTGGTGAATTTGGATA AGCAGGAAATGCCTGAAAAGGTTGCAGAAAAAATGAATATGGTAAACCAC ATTTTAAAATTAGAAAGAAATATAATTCCCAATATAAGAAAAATATTACA AAACGGAAAATATCCTTTTTCTACATACAACAATGCAGAATTCCAAATGA ATGACTTTATGAGGAAAGAAAGATTCTATGTCAAGTGCTACACTTTGGGT GTGAAGGGGGAACAAATGACAAAGAACTGACTACTTCACCAAAATTTACC TTATACTGTGTACTTATTCACACCCAGAAATTATGTCTTACACTGGTGAT AAGGTTCCACTAAGACAGATTGCAATGTAAGGTAAATCAATACATTTGCA ATTTCGCTGTAAGAATATTTCCAGACTGTTTTGTATCAGACAATATTGTA GGGTAATATGTAGTTCTATAGATGTTATGGCTTTGTCTGTATTTCATTCC AAAAAACTAATTGCAGTCTATATTCCAATACTGGAGAATAAAAAGTATAA TGTCTGACATGTTTCAACAAATTCTTATTGTTTGAAAACATACAGGTAGC AGCATACATGAATACACCCAGAATCACTAATGCCTCACAGTAAACGAGAG AAACAAGTAGGGCTTTTTTTCTAGCCATGGTTCAGAGAAGGAAAAAGAAG AGGTATACCATACATGTTTCAAGTACATGGAAAATATCAACAAATTAGAG ACACAGCAGAACGATTTCACTATTATTTCATTACTTCATTTTCTGTCAAA GAAAATGTCTTTTAAGCTAACACATCAATGAAATGAACTAAGAAGAAAAT AAACGATATTTATCAACAGTAAGTGACACACTATGTCAAACCCTACTTTA AATATCAATGTAACCACGATCAGAGAAATTACATGCCAGAAACTCACCGG GTTTATATATATATACTAAACCACGTCAGAAATCTGCCCATTCCAGAACC AGAATATATCCAGAAGTCAGCCATTTATATGAGGAGGCATGTGGCAATCA TTTCAAATAAAGGATAGCTAGATAAACTGCTAAACTTACCGAAGAATAAA GTAGGCAGACACATAAGGAGAGCTGCTTTCATTCACTTTAGGAACTGCTT ATAAGGGGGAAAGCAGCTCCGGTGAGTTGGAGGTAATACTCTCCTTTACT CCTATTCTTATTTAGGCGTCATTAACAGCAAAGCATTTCTGTTTCTCTTC TATAAATTTTCTACTGCTGGTAAAGCCAGAGGCATATTCTGTGCAGACAC ATGCTAATTCTAAAGTCACGTGAATACTCCCTTTCTTTGATTATATAGTC TATCATTATGTAGACCTGCCATTGCTTAAGCACATAAAAACCTGAGGACA AAAAAGGCACTGTTGCTGCCATGGGAGTTTATAATCGGGTTAACAAGAAG GAAACAACAACAAAAAAAACATTAACATAAAAAGTCACTTAAAAATATTT GTAGGCATATATGACATGGAAAAAAATCAAGAATGAACAGGAAGTCTATG TTTGGCTAATTCCCTTAACGTCAAGGACAACATAATCCCTTTGCTACCCA ACAGGCCCCTAAGGTGGAATCTTAAAAAATCAATCAATAAATAAAAGGAA ACCAAAACTATTGAAGTATTACTACACATTTTCAAAAACACATGAGAAAC ACAATATTAAAGTACTTATCCTGCTGTCTCCTTTTTTATTGTAATAAAAG TAACAGAAAGGAAAACTCAAATACTTTATGTTTCTAGTCCATGACATTCT TGTTACTTTTACATTGGAAACTTCAGCTTTCTCCACATTTTCGGGATTTC GCAATGTGGAAACCTCAAAGATACTAGCTCTTTCAGTTTATTACCGTAGA TATAATTATGGGTCACAGATACACTTGTATCTATGAAAAGAGATCCAGAG CATTACTATCGTCAAACAGCCAGCTAAAATGAAAATGTAATTGGGATTCT GTGCTCTGAAAAGTGCAGCATAATTTTATTTCAGTCTATCTCCCTAAGAA AATTCATGAAAGACACTTTGGACGTTTCATTTAGCTATTTGACAGTAAAG ATGAAAACTACATCCAGAAATGAAGAAGAGAACACCAAATCTCAGAAATC TGTTCTACAGAAAAGTTATTGCCAAGTATATTCCTGTCAAAATACTACCT CATTATTCTAAATAACACAGAGGTCTTCATTCTACACTAAGTGTTTCCTT AAATTTTAGGTACAATTCACTAGTTTAAAATGAGCAACTATTCAGGAAAT TTGTATGAACAAGTTAAAGGCCTCAATAATACCTAAAAGCAAATCATTTT ACTCCCTCTGACATTACCTGATAATTGTATACAGGGAACTGATATCCAGT GGCGACTTGAAATGGTGAATTTGGATAAGCAGGAAATGCCTGAAAAGAAA GGTTCCAGAAAAAAATGAATACGGTAAACCATTTTTTTAAAATTAGAAAG AAATATAATTCTGAATATAACAAAAATAGGTAAAATATTGTTTTTCTACA TACAATAATGCAGAATTCTAAATGAATGACTGACTTTATGAAGAAAGAAA GATTCTATGACAAGTGCTACACTTTGGGAGTGAAGGGGGAACTAATGACA AAAGAATTGACTATTTCACCAAAGTTTACCTTATACTGTGTACTTATTCA CACCCAGAAGTTATTTCTTACACTGGTGGTAAGGCTCCATTAAGAGAGAT TGCAAGGTAAGTTAAATTAATACATTTGCTATTTCCCTGTCAGAATATTT CTAGACTGTTTTGTATCAGACAATATTATAGGACAATATATAGTTTGACA GATGTTATGGCTTTGTCTGTACTTCATTACGAAAAACTAAGTGCAGTCTA TAATCCAATACTGGACAAGAGAAAGTATAATGTCTTATATGTTTCAAAAA ATTTTTATTATCTGAAAACATACAGGTAGCAGCATACATGAATACACCCA GATTCAGTAATCGCTCACAGTAAATGACAGAAACAAGTAAGGCTTTTTTT CTAGCCATTGTTCAGAGAAGGAAAAAGAAGAGGTATACCATACATGTTTC AAGTACATGGAAAATATCACGAAATTAGAGACAACCGCAGAACTATTTCA CTATTATTTTGTTACTACATTTTCCATCAAAGAAAATGTCTTTTAAGCTA ACACATCAATGAAATGAACTAAGAAGAATATAAACGTTATTTATCAACAG TAAGTGATAGAGTATGTCAAACCCTACTTTAAATATCAATGTCACCAGGA TCAGAGAAATTAGATGCCAGAAACTCAAGCGGTTTATATATATATACTAA ATCACATCAGAAATCTACCCATTCCAGAACCAGAATATATCCAGAAGTCA GCAATTTATATGAGGAGGCATCTGGAAATCATTTCAAATAAAGGATAGCT AGATGAATTGCTAAACTTACGGAAGAATAAAGTAGGCAGACACATAAGGA GAGCTGCTTTCATTCACTTTAGGAACTGCTTATACGGGGGAAAGCTGCTC TGGTGATTTGCAGGTAATACTCTCCTTTACTTCTATTCTTATTTAAGCAT AATTAACAGCAAAGCATTTCTGTTTCTCTTCTATAAATTTACTACTGCTG GTAAAGCCAGAGGCAGATTCTATGCAGCTACATGCTAATTCTAAAGTCAC GTGAATATTACCTTTCTTTGATTATATAGTCTATCATTATGTGGAGCTGC CATTGCTTAAGCACATAAAACCCTGAGGGCAAAAAAGGCACTGTTGCTGC CATGGGAGTTTATACTCGGGTTAACAAGAAAGTAACAACAACAACAACAA ACATTAATATAGAGAGTCACTTAAAAATATTTATAGGCATATATGACATG GAAAAAAAATCAAGAATGAACAGGAAGTCTATGTTTGGCTAATTCCCTTA ACGTCAAGGACAACATAATCCCTTTGCTCCCCAACAGGCCCCTAAGGTGG CATCTTT	A A	exon_loss_variant exon_loss_variant	HIGH	HG01106.hp1 HG02647.hp1 HG01106.hp1 HG02647.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0004 a0004c0004t0001g0018 a0004c0004t0001g0004 a0004c0004t0001g0018	2	45	0.0444	-4756	c.858 others(16): Show c.858+740_1002+739del		DAZ3	ENSG00000187191.16	transcript	ENST00000382365.7	protein_coding	13/19						chrY	TogoVar
DAZ4_chrY_24828919_24912040	24871328	CTTCTGGG others(4749): Show CTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAATAG TCAATTCTTTTGTCATTAGTTCCCCCTTCACTCCCAAAGTGTAGCACTTG TCATAGAATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTAGAATTCTG CATTATTGTATGTAGAAAAACAATATTTTACCTATTTTTGTTATATTCAG AATTATATTTCTTTCTAATTTTAAAAAAATGGTTTACCGTATTCATTTTT TTCTGGAACCTTTCTTTTCAGGCATTTCCTGCTTATCCAAATTCACCATT TCAAGTCGCCACTGGATATCAGTTCCCTGTATACAATTATCAGGTAATGT CAGAGGGAGTAAAATGATTTGCTTTTAGGTATTATTGAGGCCTTTAACTT GTTCATACAAATTTCCTGAATAGTTGCTCATTTTAAACTAGTGAATTGTA CCTAAAATTTAAGGAAACACTTAGTGTAGAATGAAGACCTCTGTGTTATT TAGAATAATGAGGTAGTATTTTGACAGGAATATACTTGGCAATAACTTTT CTGTAGAACAGATTTCTGAGATTTGGTGTTCTCTTCTTCATTTCTGGATG TAGTTTTCATCTTTACTGTCAAATAGCTAAATGAAACGTCCAAAGTGTCT TTCATGAATTTTCTTAGGGAGATAGACTGAAATAAAATTATGCTGCACTT TTCAGAGCACAGAATCCCAATTACATTTTCATTTTAGCTGGCTGTTTGAC GATAGTAATGCTCTGGATCTCTTTTCATAGATACAAGTGTATCTGTGACC CATAATTATATCTACGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTT TCCACATTGCGAAATCCCGAAAATGTGGAGAAAGCTGAAGTTTCCAATGT AAAAGTAACAAGAATGTCATGGACTAGAAACATAAAGTATTTGAGTTTTC CTTTCTGTTACTTTTATTACAATAAAAAAGGAGACAGCAGGATAAGTACT TTAATATTGTGTTTCTCATGTGTTTTTGAAAATGTGTAGTAATACTTCAA TAGTTTTGGTTTCCTTTTATTTATTGATTGATTTTTTAAGATTCCACCTT AGGGGCCTGTTGGGTAGCAAAGGGATTATGTTGTCCTTGACGTTAAGGGA ATTAGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTTCCATGTCAT ATATGCCTACAAATATTTTTAAGTGACTTTTTATGTTAATGTTTTTTTTG TTGTTGTTTCCTTCTTGTTAACCCGATTATAAACTCCCATGGCAGCAACA GTGCCTTTTTTGTCCTCAGGTTTTTATGTGCTTAAGCAATGGCAGGTCTA CATAATGATAGACTATATAATCAAAGAAAGGGAGTATTCACGTGACTTTA GAATTAGCATGTGTCTGCACAGAATATGCCTCTGGCTTTACCAGCAGTAG AAAATTTATAGAAGAGAAACAGAAATGCTTTGCTGTTAATGACGCCTAAA TAAGAATAGGAGTAAAGGAGAGTATTACCTCCAACTCACCGGAGCTGCTT TCCCCCTTATAAGCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGT GTCTGCCTACTTTATTCTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCT TTATTTGAAATGATTGCCACATGCCTCCTCATATAAATGGCTGACTTCTG GATATATTCTGGTTCTGGAATGGGCAGATTTCTGACGTGGTTTAGTATAT ATATATAAACCCGGTGAGTTTCTGGCATGTAATTTCTCTGATCGTGGTTA CATTGATATTTAAAGTAGGGTTTGACATAGTGTGTCACTTACTGTTGATA AATATCGTTTATTTTCTTCTTAGTTCATTTCATTGATGTGTTAGCTTAAA AGACATTTTCTTTGACAGAAAATGAAGTAATGAAATAATAGTGAAATCGT TCTGCTGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTA TGGTATACCTCTTCTTTTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCC CTACTTGTTTCTCTCGTTTACTGTGAGGCATTAGTGATTCTGGGTGTATT CATGTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTGTTGAAAC ATGTCAGACATTATACTTTTTATTCTCCAGTATTGGAATATAGACTGCAA TTAGTTTTTTGGAATGAAATACAGACAAAGCCATAACATCTATAGAACTA CATATTACCCTACAATATTGTCTGATACAAAACAGTCTGGAAATATTCTT ACAGCGAAATTGCAAATGTATTGATTTACCTTACATTGCAATCTGTCTTA GTGGAACCTTATCACCAGTGTAAGACATAATTTCTGGGTGTGAATAAGTA CACAGTATAAGGTAAATTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTT CCCCCTTCACACCCAAAGTGTAGCACTTGACATAGAATCTTTCTTTCCTC ATAAAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAAGGATA TTTTCCGTTTTGTAATATTTTTCTTATATTGGGAATTATATTTCTTTCTA ATTTTAAAATGTGGTTTACCATATTCATTTTTTCTGCAACCTTTTCAGGC ATTTCCTGCTTATCCAAATTCACCAGTTCAGGTCACCACTGGATATCAGT TGCCTGTATACAATTATCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCT TTCAGGTATTATTGAGGCCTTTAACTTGTTTATAGAAATTTCCTGAATAG TTGGTCATTTTTAACTAGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTA GTGTAGAATGAAGACCTCTGTCTTATTTAGAAGTAATGAAGTAATATTTT TACAGGAATATCCTTGGCAATAACATTTGTGTAGAAGAGATTTCTGAGAT TTGGTGTCCCCTTCTTCATTTGTGGATATAGTTTTCATCTTTGCTGTCAA ATAGCTGAATGAAACATCCAAACTGACTTTCATGAATTTTTTTAGGGAGA TAGAGTGAAATAAAATTATGATCCACTTTTCAGAGCACAGAATTCCAATT ATATTTTCATTTTAGCTGGCTGTTTGACGGTAGTCATTCTCAGGATCTCT TCTCATAGATACAAGTATATCTATGACCCATAACTATATCTATGGTAATA AACTGAAAGAGCTAGTATTTTTGAGGTTTCCACATTGCCAACTCCCAAAA ATTTGGAGAAAGGTGAAGATTCAAATTTAAAGTAACAAGAATGTCATGGA CAAGAAACATAAAGTACTTAAGTTTTCCTTTCTGTTACTTTTATTATAAT AAAAAAGGAGACAGCGGAATAAGTACTTCAATACTGTGTTTCTCATGTGT GTTTGAAAATATGTAGGAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTT TTTTTTTTTTAAAGATGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGAT TATGTTGTCCTTGACGTTAAGGGAATTAGCCAAACATAGACTTCCTGTTC ATTCTTGATTTTTTTTCCATGTCATATATGCCTATAAATATTTTTAAGTG ACTCTCTATATTAATGTTTGTTGTTGTTGTTGTTACTTTCTTGTTAACCC GAGTATAAACTCCCATGGCAGCAACAGTGCCTTTTTTGCCCTCAGGGTTT TATGTGCTTAAGCAATGGCAGCTCCACATAATGATAGACTATATAATCAA AGAAAGGTAATATTCACGTGACTTTAGAATTAGCATGTAGCTGCATAGAA TCTGCCTCTGGCTTTACCAGCAGTAGTAAATTTATAGAAGAGAAACAGAA ATGCTTTGCTGTTAATTATGCTTAAATAAGAATAGAAGTAAAGGAGAGTA TTACCTGCAAATCACCAGAGCAGCTTTCCCCCGTATAAGCAGTTCCTAAA GTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCCGTA AGTTTAGCAATTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGC CTCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCTGGAATGGG TAGATTTCTGATGTGATTTAGTATATATATATAAACCGCTTGAGTTTCTG GCATCTAATTTCTCTGATCCTGGTGACATTGATATTTAAAGTAGGGTTTG ACATACTCTATCACTTACTGTTGATAAATAACGTTTATATTCTTCTTAGT TCATTTCATTGATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATG TAGTAACAAAATAATAGTGAAATAGTTCTGCAGTGTTTCTAATTTGTTGA TATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTC TCTGAACCATGGCTAGAAAAAAAGCCCTACTTGTTTCTCTCGTTTACTGT GAGGCATTAGTGATTCTGGGTGTATTCATGTATGCTGCTACCTGTATGTT TTCAAACAATAAGAATTTGTTGAAACATGTCAGACATTATACTTTTTATT CTCCAGTATTGGAATATAGACTGCAATTAGTTTTTTGGAATGAAATACAG ACAAAGCCATAACATCTATAGAACTACATATTACCCTACAATATTGTCTG ATACAAAACAGTCTGGAAATATTCTTACAGCGAAATTGCAAATGTATTGA TTTACCTTACATTGCAATCTGTCTTAGTGGAACCTTATCACCAGTGTAAG ACATAAT	C C	exon_loss_variant exon_loss_variant	HIGH	HG01106.hp1 HG02055.hp1 HG02258.hp1 others(5): Show HG01106.hp1 HG02055.hp1 HG02258.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0040	8	41	0.1951	-4756	c.149 others(18): Show c.1498-225_1641+2082del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	19/29					INFO_REALIGN_3_PRIME	chrY	TogoVar
DLGAP2_chr8_732628_1713476	1398928	CCTCGTCC others(4749): Show CCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTC ATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGT CGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTC CAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCGGA GTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTTGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATA TTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAG CGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTCGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCT CCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTT GTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCC TCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTTGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGT CGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGT GCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TCGTCCTCCAAAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCATCGTCCTCCGGA GTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAG CGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCT CCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCTT GTCCTCCGGAGTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTCC TCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCT GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCTGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATT GAGAGCTTACTGAGCACTCCCTCCTTGTCCTCCAAAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCGTCCTCCAGAGTCGTGCATTGAGTGCTTACTGAGCG CCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGTGCCAC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCAT CCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTC CTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCATCCTCCGGA GTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCG TGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTA TTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGA GTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGCGCTCCCTCCTCGTTCTCCTGAGTCGTGTATTGAGTGCTTACTGAG TGCCACCTCCTCATCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTCGTCCTCCAGAGTCGTGTATTGCCTGAGTCGTGTATTGAGTGC TTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTAC TGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGAGCTTACTGAG CGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCC ACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCT CCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCCACCTCCTC GTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGT CGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGTATT GAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGT GCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CCACCTCCTCATCCTCCAGAGTCGTGAAGAGAGTGTAAAATCGCTGATCA CTCCAGGTGGTGAAGGGTGGATGTGAAGTAAGGAGATTAAGGCGACTTAC TCGTCGTCCTGCGTAGTGAAGAGATTGTAAAAAGAGGGCTACATCCAAGT CCTCATGCGTGGAGGATGAATTGAGAAGATCCCCCCACCTCCTCGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGA GTCGTGTATTGAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTAT TGAGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACT GAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTC CCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG02074.hp1 others(2): Show HG00639.hp2 HG01496.hp2 HG02074.hp1 HG02895.hp1 HG02922.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0010 a0002c0001 others(1): Show a0001c0003 a0001c0010 a0002c0001 a0003c0005	a0001c0003t0001 a0001c0010t0025 a0002c0001t0020 others(2): Show a0001c0003t0001 a0001c0010t0025 a0002c0001t0020 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0027 a0001c0010t0025g0012 a0002c0001t0020g0024 others(2): Show a0001c0003t0001g0027 a0001c0010t0025g0012 a0002c0001t0020g0024 a0003c0005t0002g0031 a0003c0005t0004g0037	5	40	0.1250	-4756	c.107 others(20): Show c.107-102437_107-97682del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14						chr8	TogoVar
NBPF20_chr1_145285005_145430603	145388342	CACGCTGT others(4749): Show CACGCTGTTGCTCCAATACGTAAAAGGCACTTCTGTAGGGCTGGCATGAG TCAGTCAGTTCAAGACAACCTGAAGGAGTTGAATAACATCTATCCAGTGA GTCCTGCAAGACTTCAGGCCCTTTCTCATCCAGCAGCTCCCTGCTGAGCC TGGAAAAGTGGGAAAAAGTAAAGAATAAGCCAGGGGGAATCAGAAACCAC ACAGCCCCAGCTAGATTTCATGGCTAACGTAAGGAAGAGTTTGAAAAGAA AAAGGACAGATCCATTAATGAGGTAACAAATTATTGCCTTTATGTTGGGA TAGAACAGGGCCAGGTAGAAAACAATGAAAGAGAAAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGACAGAGACAGAGACAGAGAGAAAGT GACCTAGTGAATTGGCCAGGTGACATACTGGTAAGGGAGTAAAAGGACAC TCTGAGTTAGTGCCCTCATGACACACAGCAAACTGTGATCATGAAAAGAG TGAGCTCAATAGTTTTCCATAAAATATGCTCAAAATTCGATGCAGTGGCC ATGAGAGTACAGCTTTTGAAGTATGGTCAACCTATGGTACGTTAGGAAAT GATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAAAACC AACAGCAATGACAGTAGGAGTAATTCAGCCTTCGTTGAAAACATGACATC AAACACACTCTGGTTTCCCTGAATCTGTTGCCTCCAGGTGTTAACAGAGA ATTAAGCATCCACAATTGCTGAAAGTCACCTGGGGCATGGTGGGTTTTGA TCTTCTTCCCCTTCTTTTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTCT TCCCCTTCTTTTCTTCCCCTTCCCCTTCTTTTCAATTTCTGCAATAAATT CAGACATGGACAGACACATTAAGCTGATTCCCCTACACACATAACAATCC ACTGTCTAATCCTCACACAGGGACCTCAGGCTCCTCAGCATAAGAATAGG ACACCGTGAGAGATATATTTCAGGAGGCCTGAAGGCTGGTCATGATAGAA ATTCCTCGGTTTTTCTCCCAGAAACTGTGGGTAAAATGTCCCTATTCTAG TAGATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAACAGTTATG CCATATTTTTCCAATCAACTTAAAGCAAATACCCTCAAATGATTTCTAGG AGAAAAACTGCAATATTTAGCCCTGTCTCATCAAATACTCAGATTGTTCA TGGTTGTGAGGACTTTAGACACTGAAATTAGAGTGAAAAAGGAAATCTAC AAACCCTTGAGTCAAAATCATAGTTCTCTGAATTTGTCACATCTGCCCAG GTCCAATGTCATGAGGATAGGATCAGGGCGCCACAGGTATGGCCTGAGAC TAGGAAGAGAGTCTTGCTCACTGACCCATCCCTTGCCTGGGCTTCCAGGT AGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGTCCTCCCTGTGG CAATGACATCTCTCAGCTCAGTAATGGCCACTTGGAGCAGGAATATGATC TTTATATGGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTACTC ACCTCCCACGTCAAGAGAAAAGCCAACATGTTTTTCCTCCAATGCATAAA AGGAACTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGACAACTGGAA GGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTAC TACCTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAGA ATAAGCCAGGGGAAATCAGACACAACAGAGCCCCAACTAGGTTTCATGGG TAGCATAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCATTAATGAGG TAACAAATTATTGCCTTCATGTTGGGACAGAACAGGGCCAAATGGAAAAG AATGAAAGAGAAAGACAGATAGACACACACACACACACACACACACACAC ACAGACACACACACAGACACACACACACACAGAGAGAGAACGAGCTCAGT GAATTGTCCAGGTGACACACTGATGAGGGAGTAACAGGACACTCTGAGTT AGTGCCCTCAGGACACACAGCATACAGGGATCATGAAAAGACTGTGCTCA ATAATTTTCCATAAAATGTGCTCAAGTTTCCATGCAGTCGCCATGAGAAT ACAGTTTTTGAAGTCTGGTCCACCTACAGTAGGTTAGTAAATGATAAGGG GAGGAAGAAATGGAAACCTAAATATCTACTGCAATGAAAACCAACAGCAA TGTTAGTAGGAATAATTCAGGCTTGCTGGAAAAGATGTAATCGATAATGT CAGCCCGCTCTGTTTTCCCTGAACCAGGAGTCTCCAGATGTCAACACAGA AGTAGCTGTTCACAATTGCTCAGTTACCTGGGGCATGGTGGGCCTTGGTC TTCTTCCTCTTCTTGGTCCTTTTTAGTTCCTGCAATACATTCAGACAGGG ACAGACAAAATAAGCCAATTCACCTACACCCATAACAGTCCACTGTCTAA TCCCCACACAGGGATCTCAGGCTCCTCAGCATGAGAACAGGACAATGTGA GAGAGATACTTCAGGAGGCCTGAAAGCTGGTCATGATATTCTTTGGTTTG CATCTCAGAACCAAGGGTGAAATATCCCCATTCTGGTAGATCGTTATCCC AAAATCATTTATCCCAAGTTTGTGCAAACAGTTATGCCTTATTGTTCCCA TCAGTTCAAAGAAAATGCCCCAGATGATTTCTAGGAGGAAAACTGCAGTA TTCAGCCCTGTCTCATCAAATGCCCAGCTCGTTCATGGATGCAAGAATTT TAGACACTGAAATTAGAATGAAGGAGGAAATCTACAAACCCTTCAGTCCA AATCATACTTCTGTGAATTTTTTACATCTGCCTGGGTCCAATGTGCTGAG AGCGGGCTCAGCTTGCCACAGGCATGGCTGGAGACTAGGAATAGAGCCTT GCTCACTGACCCATTTCATGTCTAGGCTTCCAACTGAGACTACAGTTTCA TTACAACCTATATGCGCCCATAGGTCCTGCCTGCGGCAATGACATCTCTC GGGTCAGTAAGGGCCACTTGGAACAGGAATATCACCCCTATCTGGAAGAC CAGGTGGAGGCTTATCACCTTCACAGTAAGGTACTCACTGTCCACGTCAA GAGCCAAGCCAAGGTACTGTTCCTCCAATGAGTAAACAGCACTGCTGTAG GGCTGGCCTAAGTCAGGCAGTTCAAGATAACCTGAAGGAGTCGAATAACA TCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTTTCTCATCCAGCAGCT CCCTGCTGAGCCTGGAAAAGTAGGAAAAAGTAAAGAATAAGCCAGGGGGA ATCAGAAACCACACAGCCCCAGCTAGATTTCATGGCTAACATAAGGAACT GTTTAAAAAGAAAAAGGACAGATCCATTAATGAGGTAATGAATTATTGCC TTTATGTTGGGATAGACCAGGGCCAGGTAGAAAAGAATGAAAGAGAAAGA CAGGGAGAGGGAGAGAGAGAGAGAGAGAGGAGAAAGTGAGCTCAGCGAGT TGGCCGGGTGACACACTGATGAAGGGGTCAAAGGACACTCTGAGTTAGTG CCCTCGGGACACACAGCGAACAGTGATTATGAAAAGAGTGGGCTCAATAA TTTTCCATAAACTTGCTCAAGATTCCATGCAGTTGCCATACAGCCTTTGA GGTATGGTCAACCTATAGTAAGTTAGTAAATGATAAGGGGAGGAAGAAAT GGAAACCTAAACATCTACTGCAATGAAAACCAACAGCAATGTCAGGAGGA GTAATTCAACCTTCGTTGAAAACATGAAATTGAACACACTCTTGTTTTCC CTGGACCTGGCATCTCCAGGTGTCAACACAGAATTAAGCATCCATAATTG CTCAAAGTTACCTGGGGCATGATGGGTCTTGGTCTTCTTCCACTTCTTGG TACTTTTCAATTTCTGCAATAAGTTCAGACATGGACAGACATATTAAGCT GGTTCTCCTACACACATAACAATCCACTGTCTAATCCTCACACAGGGACT TCAGGCTCCTCAGCATGAGAATAGGACACTGTGAGAGATAGTCTTCAGGA GGCCTGAAGGCTGATCACCATAGAGATTCCTTGGTTTTTGTCCCAGAAAC TGTGGGTAAAATTCCCTATTCTGGTAGATCGTTATCCCAATATCATTTGT CCCAAGTTTGTGCAAATGGTTATGCCATATTTTTCCAATCGATTTAAAGC AAATGCCCCCAAATGGTTGCTAGGAGAAAAACTGCACTATTCAGCCCTGT CTCATCAAATACTCAGATTGTTCATGGTAGCGAGGATTTTAGACGCTGAA ATTAGAGTGAAGGATGAAATCTACAAGATCTACAAAATTGAGACAAAATC AGAGTTGTGTGAATTTGTCACATCTGCCCAGGTCGAACGTCATGAGAGTA GGATTAGGGCACCACAGGCATGGCCTGAGACTAGGAAGAGAGCCTTGCTC ACTGACCCATCCCTTGTCTGGGCTTCCAAGTGGAACTAGAGTTTCATTCA ACCTACATGTGCCTATAGGACCTCCCTGTGGCAATGACATCTCTCAGCTC AGTAAGGGCCACTTGCAGTAGGAATATGACCCTAACCAGAAGACTCAGTG GATCCTTATCACCTTCATAGAAAGGTACTCACCATCCATGTCAACAGCCA AGCCAAT	C C	exon_loss_variant exon_loss_variant	HIGH	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0001 a0004c0003t0001g0001	1	6	0.1667	-4756	c.118 others(9): Show c.1189_1920del		NBPF20	ENSG00000162825.18	transcript	ENST00000698833.1	protein_coding	20/143	3039/19578					chr1	TogoVar
GLT1D1_chr12_128848478_128989968	128963610	CACTCCAG others(4747): Show CACTCCAGCCTGGGTGAGAGTGAGACTCCGTCTCAAAACAAAAACAAAAA GGTGTTTTTTTCTCTCTCTACATGAAAATTAACGTGTGCTGGCTCCTATC ACGCACAGTCATGTTAGGCAGAGAGCTTTTATGGAGTTCTTACTATGTGC CCAGCACGGAGCCAGGTCCTGAAGGTGAAGGAATGAAACAGAAAGGCTGC AAGGCCCTCGGGAATGCACAGTTGGCTGTGGGTGGTGCGCAGATGGCAGA GCACGGCAGCAGGTAGCATGCCCTCTGCATCATCGGCCCATCATGAGCGA CACCTGTCTTAGTCTGTTCCGGCTGCAGTAACAGAATACTATAGACTGGG GGCTTAAGCAACAAACATTTCTCTCTCACAGTCCTAGAGGCTGCAAGTCC AAGATGGGCACCTCATAGACAGCTGTCTTCTCCCTGTGTCCTCATGGTGG AAGGGCCGAGACAGCTCTCTGGGGTCCCTTTTATAAGGACACTAAACTTG GCCAGTTGCGCTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAGA TTGCTTGAGCCCAGGAGTTCAGGGCCAGCCTGGCCAACATGGAGAAACCC TGTCTCTACAAAAAAAGTAAAATATTATCTGGGGGTGGTGACAGATGCCT GTAGTCCCAGCTACTCGAGAGGCTGAGATGGGAGGATCACTTGAGCCTGA GAGGTAGAGGCTGCAAGGGAGCCATGTTGGCGTGGCTGCACTCCAGCCTG GGTGACAGAGTGAGACCCTGTCTCAAAACAACAAAGACACCAATCTTTCC ATCCTCATGACCCAGTCACCTCCCAAAGACCTCACCTCCTGCCGTCCCCT TGGGGGTGAGCAGCTCAGTGTATGAATTTGAGGAGACACAAACATTCACC CCACAATATGACCCCTTGTCAAATGTTCACCCTGTGATGGACATGGTTCC CTCTGCTTTACATGGATGGACTCCATGAACTCTCACAACAATTCCAGGAC GTCAACACCTTCATAATCACCGTTGGACCTGTGGGAGAACTGAAGCATGG AGAAACCCAGTTAACTAGTTTGTAAGTGTCAGAGCCAGACCTGGAGACTC GTCACCCTGGCATGTTGTGTTATTAGTGTGAAGAGATTGCTAAGGACCAC TGGCGAGAAGCCTGCAGGTTTACCTGTGCAGGGTGAGGTTTAAGGAAGGA AGGGACGTTGAGCTGGGCTTCAAAGGACAAGATTCCCCAGGCAGGGAAAG GCATTCACAGTAGAGGGAATCACCTGGGCAAAAGTTTAGGGGCGTGAGAG TGTGCAATGCATTGGAAGAGTTAGGCGTAGTGCAGTGTGAAAGGTGTGAG GGAAGGAATGGCCTAAATGAAAGGGAACTCAGATGTAAGGAGCATGGGAC ATAGAGGAGTGTGGTGAGCAGAGTTCTGAGATGGCCTGTGGCCTCTGCCT CCTGGTGTTCGGCTGTTATGGTAGGCTACGTGGCAAGAGGGATTTTGCAG ATGTGATTAAGGTAACTAATCAGTTGACTTTGAGTTAATCAAAGATATGA ACTGTGTGGGCCTGACCTCGTCATCAGAGCCCTTTAAATTTAGATCTAGA GGTCAAGGACAGAAGAATTCAGAGAGACTGGGACCTGTGGAGGGATCCAC ATGGCAAGGAACTTTGGGCAGCCTCTAGGAGCTGGGGGCGACCCCTGGTT GACAGCCAGTGGGAGAAAGATGGCTTGGGCCCTACAACCACAGAAACTGA ATTCTGCCAACAACTGTGTGAGGTTCAAGGAAGACCCCAAGCTCCAGACA GGAGCCCAGCCCAGCCCAAACTTTGATCTCAGGCTCGTGGGATGCTGAGC TGAAAAGTCAGCTCTGCTATGTCTGTGCCTGGACTTTGACTTGCAGAAAC CATGAGACAATACATGGATGTCATTCTAAGTCCCAAGTTTGTGGCTATTT GTTATGCAGCAATAGAAAACTAGTCCCAGAGGCTGGGCATGGTGGCTCAC ACCTGTAATCCTAGCACTTTGGAAGGCTAAGGCAAGCAGATTGCTTGAGC TCAGGAGTTCAAGACCATCCTGGGCAACATGGCAAAGTCTTGTCTCTGCT TAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGTAAAAAGCCAGATGTGG TGGCTCATGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGACC GCTTTAGCCTGGGTGATGGAAGTTGCCGTGAGCTGAGATCTTGCCACTGC ACTCCACCCTGGATAACAGCAAGACCCTGTCTCAAAAATAAAGAAAAAGA GAACTAGCTCCAGGAAGAAGGCAAGGGAAGAGTTTCCAGTGATGCCAATG CAGCTGGCTGCAGAGGAGGAAAGAATGTGTTCACAGTGGCAGAGATGGGA CCTCCAAAAAGAGGACTGTTTCAGGTAATTAATGCATCACATTTGAGATG ATGGAAGATCATTCAAGGGGATTCATAGGGTCTTACTGGAGAAAACCTTA CGTTTCTCTTTCCCCCTGCAACCACTGCATCTTTCTGTATTCAATGAGCG GCTGGGAGTAGGAGTCCCTGGTGCAATTGGAGAGAAGGAGACAGCAGAAT GCTCCTGGGAGCCAGGGCTGAGCTGAGAGGGCGTGCATACCAGCCAGCAT CCCTGCCTGAAATGCCCCAGGGGTGGCTGGCTGCACTTGGAAGAAAGTCC AAACTTTTTCTGATGGCCACCAAGCTGTCCCTGAGCTAACCACTGCCTAC CACTCTGCCTTTGCTGCTCTGCGGCCACGTGGGCATCTCTGCTCCTCCCT CACAGGTAACTTGAGTCCCCAGCCTCTTTTCACCACCCTTCCCTATCTTA TTTCATTCCTGGCATGTGTCACGGTGCCACACTGCTTGCTCCCCACACCC TCCTCCCCAACCTCCTCAGACTGTTAGATCCAGGAGAGCAGTTTCTCCAA CTGTAAAATGGGGAAGTGAGGCCTCATCTGGGGGGTTTTGTGCTCTTCTG CACGCAGCCCCAGCACTTGGGCAGCACCTGGCACTAAATGTGTGTTGACA GGTGAATGGTGAGCACAGGGTCCCGGGGTGGGGGTGGCAGCTGTTGGCAC AAAGATAATGGGAATCTGGAGGGAAGTTTGCTTTAGGGAGCTTATGAGGA CAGCCTACTGAACTGAATAAAAAGCCATTTTTAATTTTTTTTTAAAAAAT GACGATTAAACATATTCAGCCCTGGTAGGAACAGAATAATCTCTATTTCT ATATACCTCACCCCTGGAAAACTTCAATTTAAGCAAAGCTTTCCAAACCT ACTAAAGATTGATTTTTTCTTTACCGCCACAATCCTGTTATTTCTCCTTT TAAGAAGTAGAAAAGGGTTGAGCTATTTTCCTAGGTATTTTATTGCTCTG TTTTATAGCTTCGAAATTAAAATCCATTTGACATTTAATAGAAGCTGTGA ATCTATACACTGTCCCAGGGTCAGACTTTTAAAGTGTAGCTCAAACCTAT TTTGCTTGGAGGTTCTGTTTGTATGGTGCACAGCTATAGAAAAACATAAG TTCTGGAATAATGACATTGACCAGAGCTAGCATTTATCCAGAATGGGCTG GGCTCTGGCCATAGTGTTCTATGTGACTTGCATTTTCACTAAAGATAGCT TATTTTTCTTCAAACGCTAATGGCTTTAATAGTCAGTCAACGGTTTAATG TTTGGGAAATGTGAGGCCCGGTAGAAAACATCAGCCTCCAAACTTTCATT CAGGCAGGGCTGCGCTGAGATCTCAAGTTTTGCTCTTGGAAGCTGAGTGA TCCTGGACACCTCTCCTGCCCTCTGCTCGATGCTTCTTCGGGAGAGTGGA GATCATGACCTCTCTTTGGGGAATAGCTGAGGGAGGGCACATGCACTATT GCCTCTCCCTTCCCCTGGAAAAAAACCTGCCAATACTCAACCGCGTTCAC AGCTTGCAGCGCTGTGCACTAGGGGAAGCCGTGGAATATGGAAAGCACTT ATGTTTAAGTGCTGGGATCAGCCCACAGCAGGATTCCCACCCGGTGCAGA GCACTGAGAACCCAGGGAGAAATTCCCGTCTCACTCTTACTTCGAGTTAC GTTCTACTTACGGATTTGGGGAGGCCACTGGCCAACATTATGTAACATAT TACTTCTCTCTTATGTTTTAAAAGTGTTTTAACGTAACATCTATAATTCT TGGAAGTTCAACGCATCCAGGATGTGTAAGCACCAGCCCGTGCACAGCAC ACAGTAGGTCCTCAGCATGAAATCCGAGATGCAGATCCTGCTGCGTTGAT TGGATTTCCAGTTAAGCCCAGAGGAAACTCGGGACAAAGCATGTGTGAAC TACATTGGAGGTTAATGCAAAACTTATGTGGATTTTGTTTTGCTTTGTTT TTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC AAACTCAGCTCACTGCAAGCTCCGCCTCCCGGTTCACATCATTCTCCTGC CTCAGCCTCCCGAGTAGCTAGGACTGCAGGCGCCTGCCACCACACCTGGC TAATTTTTTGTATTTTCAGTAGAGATGGGGTTTCACAGTGTTAGCCAAGA TGGTCTCCATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACTGCGCCCGGTCACTTATGTGGATTTC CAAGTAGTGTGACCTGGTGGCTTATTGTACGATACTGGGAAGCATTTGAG AGTGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	320	0.0031	-4754	c.879 others(18): Show c.879+5971_879+10724del		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
NBPF19_chr1_149470045_149561361	149513834	AGATTTCC others(4747): Show AGATTTCCTCCTTCATTCTAATTTCAGTGTCTAAAATTCTTGCATCCATG AACGAGCTGGGCATTTGATGAGACAGGGCTGAATACTGCAGTTTTCCTCC TAGAAATCATCTGGGGCATTTTCTTTGAACTGATGGGAACAATAAGGCAT AACTGTTTGCACAAACTTGGGATAAGTGATTTTGGGATAACGATCTACCA GAATGGGGATATTTCACCCTTGGTTCTGAGATGCAAACCAAAGAATATCA TGACCAGCTTTCAGGCCTCCTGAAGTATATCTCTCACATTGTCCTGTTCT CATGCTGAGGAGCCTGAGATCCCTGTGTGGGGATTAGACAGTGGACTGTT ATGGGTGTAGGTGAATTGGCTTATTTTGTCTGTCCCTGTCTGAATGTATT GCAGGAATTAAAAAGGACCAAGAAGAGGAAGAAGACCAAGACCCACCATG CCCCAGGTAACTGAGCAATTGTGAACAGCTACTTCTGTGTTGACATCTGG AGACTCCTGGTTCAGGGAAAACAGAGCGGGCTGACATTATCGATTACATC TTTTCAAGCAAGCCTGAATTATTCCTACTAACATTGCTGTTGGTTTTCAT TGCAGTAGATATTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAA CCTACTGTAGGTGGACCAGACTTCAAAAACTGTATTCTCATGGCGACTGC ATGGAAACTTGAGCACATTTTATGGAAAATTATTGAGCACAGTCTTTTCA TGATCACTGTATGCTGTGTGTCCTGAGGGCACTAACTCAGAGTGTCCTGT TACTCCCTCATCAGTGTGTCACCTGGACAATTCACTGAGCTCGTTCTCTC TCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTCTATCTGTCTTTCTCTTTCATTCTTTTCCATTTGGCCCTGTTCTG TCCCAACATGAAGGCAATAATTTGTTACCTCATTAATGGATCTATCCTTT TAGTTTCTTAACCACTTCCCTATGCTACCCATGAAACCTAGTTGGGGCTC TGTTGTGTGTGATTTCCCCTGGCTTATTCTTTACTTTTTCCTCCTTTTCC AGGCTCAGCAGGGAGCTGCTGGAGGTAGTAGAGCCTGAAGTCTTGCAGGA CTCACTGGATAGATGTTATTCAACTCCTTCCAGTTGTCTTGAACAGCCTG ACTCCTGCCAGCCCTATGGAAGTTCCTTTTATGCATTGGAGGAAAAACAT GTTGGCTTTTCTCTTGACGTGGGAGGTGAGTACCTTTCTATGAAGGTGAT AAGCACCACTGAGTCTTCCATATAAAGATCATATTCCTGCTCCAAGTGGC CATTACTGAGCTGAGAGATGTCGTTGCCGCAGTGAGGACCTATAGGCACA TGTAGGTTGAATGAAACTCTAGTTCTACCTGGAAGCCCAGACAAGGGATG GGTCAGTGAGCAAGACTCTCTTCCTAGTCTCAGGCCATACCTGTGGCGCC CTGATCCTATTCTCATGACATTGGACCTGGGCAGATGTGACAAATTCAGA GAACTATGATTTTGACTCAAGGGTTTGTAGATTTCCTTTTTCACTCTAAT TTCAGTGTCTAAAGTCCTCACAACCATGAACAATCTGAGTATTTGATGAG ACAGGGCTAAATATTGCAGTTTTTCTCCTAGAAATCATTTGAGGGTATTT GCTTTAAATTGATTGGAAAAATGTGGCATAACTGTTTGCACAAACTTGGG ACAAATGATATTGGGATAACGATCTACTAGAATAGGGACATTTTACCCAC AGTTTCTGGGAGAAAAACCGAGGAATTTCTATCATGACCAGCCTTCAGGC CTCCTGAAATATATCTCTCACAGTGTCCTATTCTTATGCTGAGGAGCCTG AGGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGGGAAT CAGCTTAATGTGTCTGTCCATGTCTGAATTTATTGCAGAAATTGAAAAGA AGGGGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAGAAGGAAAGAAGA AGGGGAAGAAAAGAAGGGGAAGAAGATCAAAACCCACCATGCCCCAGGTG ACTTTCAGCAATTGTGGATGCTTAATTCTGTGTTAACACCTGGAGGCAAC AGATTCAGGGAAACCAGAGCGTGTTTGATGTCATGTTTTCAACGAAGGCT GAATTACTCCTACTGTCATTGCTGTTGGTTTTCATTGCAGTAGATGTTTA GGTTTCCATTTCTTCCTCCCCTTATCATTTACTAGCGTACCATAGGTTGA CCATACTTCAAAAGCTGTACTCTCATGGCCACTGCATCGAATTTTGAGCA TATTTTATGGAAAACTATTGAGCTCACTCTTTTCATGATCACAGTTTGCT GTGTGTCATGAGGGCACTAACTCAGAGTGTCCTTTTACTCCCTTACCAGT ATGTCACCTGGCCAATTCACTAGGTCACTTTCTCTCTGTCTCTGTCTCTG TCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTTTCTCTT TCATTGTTTTCTACCTGGCCCTGTTCTATCCCAACATAAAGGCAATAATT TGTTCCCTCATTAATGGATCTGTCCTTTTTCTTTTCAAACTCTTCCTTAA CGTTAGCCATGAAATCTAGCTGGGGCTGTGCGGTTTCTGATTCCCCCTGG CTTATTCTTTACTTTTTCCCACTTTTCCAGGCTCAGCAGGGAGCTGCTGG ATGAGAAAGGGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCA ACTCCTTCAGGTTGTCTTGAACTGACTGACTCATGCCAGCCCTACAGAAG TGCCTTTTACATATTGGAGCAACAGTGTGTTGGCTTGGCTGTTGACATGG ATGGTGAGTACCTTTCTATGAAGGTGATAAGGATCCACTGAGTCTTCTGG TTAGGGTCATATTCCTACTGCAAGTGGCCCTTACTGAGCTGAGAGATGTC ATTGCCACAGGGAGGACCTATAGGCACATGTAGGTTGAATGAAACTCTAG TTCCACTTGGCAGCCCAGACAAGGGATGGGTCAGTGAGCAAGGCTCTCTC CCTAGTCTCAGGCCATGCCTGTGGCGCCCTAATCCTACTCTCATGACATT GGACCTGGGCAGATGTGACAAATTCACACAACTCTGATTTTGTCTCAATT TTGTAGATCTTGTAGATTTCATCCTTCACTCTAATTTCAGCGTCTAAAAT CCTCGCTACCATGAACAATCTGAGTATTTGATGAGACAGGGCTGAATAGT GCAGTTTTTCTCCTAGCAACCATTTGGGGGTATTTGCTTTAAATCGATTG GAAAAATATGGCATAACCATTTGCACAAACTTGGGACAAATGATATTGGG ATAACGATCTACCAGAATAGGGAATTTTACCCACAGTTTCTGGGACAAAA ACCAAGGAATCTCTATGGTGATCAGCCTTCAGGCCTCCTGAAGAATATCT CTCACAGTGTCCTATTCTCATGCTGAGGAGCCTGAAGTTCCTGTGTGAGG ATTAGACAGTGGATTGTTATGTGTGTAGGAGAACCAGCTTCATATGTCTG TCCATGTCTGAACTTATTGCAGAAATTGAAAAGTACCAAGAAGTGGAAGA AGACCAAGACCCATCATGCCCCAGGTAACTTTGAGCAATTATGGATGCTT AATTCTGTGTTGACACCTGGAGATGCCAGGTCCAGGGAAAACAAGAGTGT GTTCAATTTCATGTTTTCAACGAAGGTTGAATTACTCCTACTGACATGGC TGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCCCT TAACATTTACTAACTTACTATAGGTTGACCATACCTCAAAGGCTGTATGG CAACTGCATGGAATCTTGAGCAAGTTTATGGAAAATTATTGAGCCCACTC TTTTCATGATCACTGTTCGCTGTGTGTCCCGAGGGCACTAACTCAGAGTG TCCTTTGACCCCTTCATCAGTGTGTCACCCGGCCAACTCGCTGAGCTCAC TTTCTCCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTGTCTTTCTCTTTCA TTCTTTTCTACCTGGCCCTGGTCTATCCCAACATAAAGGCAATAATTCAT TACCTCATTAATGGATCTGTCCTTTTTCTTTTTAAACAGTTCCTTATGTT AGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGGCTTA TTCTTTACTTTTTCCTACTTTTCCAGGCTCAGCAGGGAGCTGCTGGATGA GAAAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCGACTC CTTCAGGTTATCTTGAACTGCCTGACTTAGGCCAGCCCTACAGCAGTGCT GTTTACTCATTGGAGGAACAGTACCTTGGCTTGGCTCTTGACGTGGACAG TGAGTACCTTACTATGAAGGTGATAAGCCTCCACCTGGTCTTCCAGATAG GGGTGATATTCCTGTTCCAAGTGGCCCTTACTGACCCGAGAGATGTCATT GCCGCAGGCAGGACCTATGGGCGCATATAGGTTGTAATGAAACTGTAGTC TCAGTTGGAAGCCTAGACATGAAATGGGTCAGTGAGCAAGGCTCTATTCC TAGTCTCCAGCCATGCCTGTGGCAACCTGAGCCCGCTCTCAGCACATTGG ACCCAGGCAGATGTAAAAAATTCACAGAACTATGATTTGGACTCAAGGGT TTGTG	A A	exon_loss_variant exon_loss_variant	HIGH	HG01952.hp1 HG01952.hp1	a0068 a0068	a0068c0096 a0068c0096	a0068c0096t0010 a0068c0096t0010	a0068c0096t0010g0090 a0068c0096t0010g0090	1	276	0.0036	-4754	c.513 others(9): Show c.5135_5866del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	44/94	5921/13941				INFO_REALIGN_3_PRIME	chr1	TogoVar
USP17L7_chr8_12127417_12139099	12130647	TATTTCCA others(4747): Show TATTTCCAGTTATGCATTGTATGGTGGAATTGCAGTTAGCACATTTGGTG CCAAAATTTTAATGCTGACGAAAATGGACATGTTCCCTGAACTAAGAGGG ACATAATTTGGGTGTGTCTCCAGGCTCTCTGGCTTACCAGGATTGAAGAT CCAGGCTCTAGGGATTTTCCCAAAATGTCTTAGACAGTAAGCACCGGGGC AGAATTGAGGCCTGGCGCCAAGGTCTCGAGGTGTAAAGAAACAGCCGTGG CCGCAGAGCCCATGAAATTAGGATGATTTTAAGGAGGATGGTGGAATGAG AGGACTGTGATGTTTGGCCCCGTTTCTTATCCCTTGTCTTTTCATGGGCC AGGTGTGCTCCATCAGAAGGCTTTCTGTGCCTGATGTAAAGTGTCCTGGG TGAAGAAAGGGCACTGCTTAGAGAGGTGCTCCACAGGCAGGAAGGAGCCA CCATTTTCAGGAGAATGATCCCCAGAAGCATGAGCAATCCAGATGCCGTG GCTTCACACAAGACGTCGGAGGGTCTTATTCCTGCAGCCGGGACCTGGGC ATCGGTGTCCTTTAATGCTCATAACTAATTTTGAGGGGAGCCCAATCGAT AACCTGTCTGCAAGTCATGCTCATCACACTGTAGTTTTCACACACGTCAC ACAGAGACCCTGTTCGTATGCACATTTGGGTGCTTGAGCAGGGTTGCGCC CAAGATTCTGTGGTTCTACGGAGCCCTGAGTTGTGACCTGGACAGCTTTC CTCAGGGGTTGGTCAACTTTGATCACTGCACCTAACAAGAAAGGGACCAT GAAATCTAATCAGCAAATACAGAAAAGGAAGGGGCCATTTCCCATAATAA TTTCCACAGAAACACCACGTCGGATAAATAAGTCTGATTGCAGGACAGGG ACTGTGTTTCAGAGATGCAGCTTTCGCAGCTGGATGAATGACCTGGAATC TCCCCAAATGCCATTTGTAAACACACCAAATGAGGTTTATGTCAGGGCTT TCTGAATGTATTTTAGATGAATACACACACTCCAGTGTTTGATTTCCTTT AGTATCAATGAGACTTAGTTCCAAATGACTTCCGTGCCAGTGGGAAAATT TTCCGGTTCCACTCATTGGAAGTGGACACCGTGAAACAGGTAAGTCGGTC TGTCTGTTTCCCGCGTTATGTGGGTTCCAGCAAGAGCCCAAGTCTCAGGG CACCTGAGGTCCATTCAGAAACCAAAATAAAATGGGCGAGCCAGGGTAAG AAAGGAGAGCACCGTTCCTATCTTCCAATTGAATTCCAGTATCCACTATT CAAGGTGGCGAGAATGATCCACGGATGTACCACATGAGCAAAATTTCACC TTCTCTTGCCGACCAACAACTGACGAATGAAACAAACCCCAAGAGGAAAT AGTAAACCATGTCCCCTGCAATAACCTCACACGCAAACCTACAGGTCAAT AGGTCACATTAAGAAATACACACTGAATGTCATCTACCATGAACACAAAC ACACAGACAGTCCCTCCAGAGGTTCGGAAGACTCACGAACCCAAAACTTG ATGTTTCCCATGTGTGGGCTCATCCTGAGACGCAGCCATCACTATCCAAT TGTCCCTGTTGTAGAGACAGAAACTGGGGCTCCTCATTACTTTATGTAGG ATTGACGGTGTTCGTGTTTGTGTGGGTGTGTGTGTGTTTCCGTGCGCGCT TGTGGGTGTATTTGTGTTTGTGTGTGTGTGTGTGTGCACCCATCAGTGTG GGTCGGTACTTCCACTGTGATCACTGGCACACAAGCAGAGATCTCTTGCT GTGTTTGTTATTCCCTTTGGATCTCCTGGTGCTCCCTTGCAGAGAAGCGA GTGTGCCAGTGTTCATGGACTCCTGATCTGTCGGTTTCGTCGAAGAGAGG TTTAGCAGGGAGCTTTGCTGTTCAGGATGATGGTTTTTCATACCACACTT GTATTTTGATTGATGAATCACAAGTACGTTGGGAGGCAGGGTACCTTCAA CTTTTCTGACGTTGAACTCAGGCTTCGTTTTGTTTTGCTCTTGGGGGAAT TTCCAGTGGTCTAAGGTGCTTTCCTGAGTGGCTCTTTCCACCAAGTGCTC GTCCAACTCGGGTACCTGGAGGCAAGGGTGGTCTCTCTTGAGCTCTCCTT GCGTTGCTGGCCTGTCTGTGTCTTCAGCACCAAGGGCTCTTGGTTCCCTG CCTCTTGACACACTCTCACTGTGTCTTTCCCATTCACTCTTCTGGATGTA AAAGAGGACATAGGCCTGTTGACTCAGGACAGAGGTGATGCCAGAGGCAG TGACCTCGGCATCATCCATTTTATACCACTGGCCTTCTTGAGCTTTGACA TAAGAGAAGTAATGTCCGTTGTGACAACTCCACCCAGCGTGGACCAGCAC AGCATAGAGGACATAGACAAGAGGTCCTGTGTTCTGCTGAGACATGTATG GCTGCATGTCACGGCACTTAGGATATTGCACATTCTTGGCAAGTTTGTTG CCTGTGACATCGGAGAATCTCTTCAATACAAGAATGAGGACCTTGGCAGA AGTGGGTAAAGTTAACGTCTTGGAGGCAGGCGCCTTCTGGAGACAAAGAC CACAATGATAGGCATTCTCTCCATTGAGTTCTTTGGGCTTCACCAACTGT TCCAAAGCTTGCTTGACACTCTGAGCTGCCTGGATATCCAGGGCGATGTC CAGGTAAGGGTCAAAGGTGTCTGAAACGCCGTGGCAGTGGAGATACTTGA TTTGAGATCTCCAATACGCTCCAAATATTTGGTGGATGAGGGTGGTGTCC TTGGAGTGATGATCTAGCTGCTTGTGCCCGGGAAGGCATGCCTTTTTCAT GGCATCCACAGTAAACATGAGAAATTCATGGGCATCCTCCTGCTCACCTC TATGGAAGCCAGCAGCCAATACCTGTGAGGGCTGGATGACATGGCCAGGA CTGTGGAGGGCCCATGTGATGTGAGCTTGCATAGTACAGAACATGCAGCA CTTGTGAAGATGACACGTTTGAGAGTCCTCCCGGGACAGCATGTAGTTGG AAAGCGGCAGTGTGTATGTCAGGCACTGCAGGGAAACGTTCACATAGAAG GTATTTCCTATCTTCTGGAGCCCAGCCCCCACCGCAGCAGGTCTCCTGCT ACTCAGAGGAAGCTTCTCCCTGGGAGCAAGCTGTCTTGCCACAGGAGCCA AATCATCACAGAGGTCGAAACGGGTCTCAGATGAGAGTGGTGACTTTTCA GAGAGAGAAGTCCGCTGGATTTCAGCAAAAGCTGCATCTAGCCGAGAAGA TGTGAGTTTTGAAAAGTGATTGAACTGCCAGTCACCTCCCAAATAGAGTG AGTCGTCTTCCATGTCGCCCGCAACAAGGATCACAAGGTTTTTCTGCTGG GACCGCAGGTTGCAGCAAGACGCTATCTCTTCCGAGAGAGTCTTCAAATG ACCAGCTCTCTGGCCGCATCAGCCCTTATATAACTCACCCCCTCCAACCG CGAACACCCCACCCACCCATCAGGTGTGCGATAAACCAATCAAATATCAG CACTCAATTAAGGAATGAGTCACAGGGTGTGTCCCCTTGCATCGCTGGGA ATTCAACAGACACAGCCCACATCATGACTTCTAGAACACCTGAATCAAAT TACTCCTCAGGCTGATAGACACATGTAATATGAGTGTAACCGGGTTGGGA CAGTGGCCACACAGTTGCCTTATTTTAGGTAAAAGAATGTCAGGGAAGAA ATCTTTACCTATGAAACCGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGCTTGTGC TGGGATGAACTTCCAAGTATGTACTTTTGGCAGCTACCATCATCCTCTCA GCGATGGAAGCACAAGAAGTCTGAAGTGCACTTTCTGACCTGAGAATAGT CAATGAAGTATAGTATTTAGCACAGCGTATATTTTTCCTTAATAATAAAG GAGAGATCCGTGGAATCAAACAGACCTTCCAGCGATAACCTTTCCACGTT CAGACTATTGATTCTCTATCCGAGTGAAATTACCTGCCAGTGGAGAACAA GACAAGTCTTTGCATGAAATACTCTTGTGGAAGCTAGGCTGCCAAATAAA GCATCAAATGGTAGAAACATGCACTGAAGTTTGAAGAGTTACTCAGTGCA CAAAGTAGACTGTGAAAGACTTTGGGGAAATCATGCAATCACCGAGAGAC TAATTGATGACTTTCCCCAAATTTATGTGTGCCAGAAAAGAGAGATGGTC CTGACATTGTATAGTGAGTGGTTTCGGACGTGCGGCGGCAGTTTAAGAAA ACATGAAACAAAAACCTTGAGAAATCCAAAGGTATCCCAACTATAAGCTT TTGTTTATTAAAGAACTGATGAAAATCAAAACAACATATCTCACAGCATG GGTGATACTGTTTCCATACGTATGTGATAATGGCTCAACATTTCATAGAG ATGAAATAAAAAGTTCTAATTTTGACAAAAGCAAACAAGGAAAATTATAC CGTAGAAAAGCCCGGGTGACGGGAGTGAGGCCCTGTCTGAAGAAGAAAAC ATCGGAGACGTTTAAAAGCAGGGAGTGAAACAGAAGATAGCATAACCTTT TTAATGCTGGCCCTTGTTTCACAGGGAAAAGGCAAAAATGCAAAAATAAG CCGTGTGTCTCCTGGATTCTCTCATCGATTGTTCATGGTCTGAGATGTTC CCTCC	T T	transcript_ablation transcript_ablation	HIGH	HG04115.hp2 HG04115.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	194	0.0052	-4754	c.-13 others(11): Show c.-1392_*1769del	p.0? p.0?	USP17L7	ENSG00000226430.7	transcript	ENST00000530447.5	protein_coding	1/1						chr8	TogoVar
NBPF19_chr1_149470045_149561361	149537774	ACCAGAAT others(4746): Show ACCAGAATGGGGATATTTCACCCTTGGTTCTGAGATGCAAACCAAAGAAT ATCATGACCAGCTTTCAGGCCTCCTGAAGTATATCTCTCACATTGTCCTG TTCTCATGCTGAGGAGCCTGAGATCCCTGTGTGGGGATTAGACAGTGGAC TGTTATGGGTGTAGGTGAATTGGCTTATTTTGTCTGTCCCTGTCTGAATG TATTGCAGGAATTAAAAAGGACCAAGAAGAGGAAGAAGACCAAGGCCCAC CATGCCCCAGGTAACTGAGCAATTGTGAACAGCTACTTCTGTGTTGACAT CTGGAGACTCCTGGTTCAGGGAAAACAGAGCGGGCTGACATTATCGATTA CATCTTTTCAAGCAAGCCTGAATTATTCCTACTAACATTGCTGTTGGTTT TCATTGCAGTAGATATTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTA CTAACCTACTGTAGGTGGACCAGACTTCAAAAACTGTATTCTCATGGCGA CTGCGTGGAAACTTGAGCACATTTTATGGAAAATTATTGAGCACAGTCTT TTCATGATCACTGTATGCTGTGTGTCCTGAGGGCACTAACTCAGAGTGTC CTGTTACTCCCTCATCAGTGTGTCACCTGGACAATTCACTGAGCTCGTTC TCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTCTATCTGTCTTTCTCTTTCATTCTTTTCCATTTGGCCCTGTTCTG TCCCAACATGAAGGCAATAATTTGTTACCTCATTAATGGATCTATCCTTT TAGTTTCTTAACCACTTCCCTATGCTACCCATGAAACCTAGTTGGGGCTC TGTTGTGTGTGATTTCCCCTGGCTTATTCTTTACTTTTTCCTCCTTTTCC AGGCTCAGCAGGGAGCTGCTGGAGGTAGTAGAGCCTGAAGTCTTGCAGGA CTCACTGGATAGATGTTATTCAACTCCTTCCAGTTGTCTTGAACAGCCTG ACTCCTGCCAGCCCTATGGAAGTTCCTTTTATGCATTGGAGGAAAAACAT GTTGGCTTTTCTCTTGACGTGGGAGGTGAGTACCTTTCTATGAAGGTGAT AAGCATCCACTGAGTCTTCCATATAAAGATCATATTCCTGCTCCAAGTGG CCATTACTGAGCTGAGAGATGTCATTGCCGCAGTGAGGACCTATAGGCAC ATGTAGGTTGAATGAAACTCTAGTTCTACCTGGAAGCCCAGACATGGGAT GGGTCAGTGAGCATGGCTCTCTTCCTAGTCTCAGGCCATACCTGTGGCAC TCTGATTCTACTCTCATGACATTGGACCTGGGCAGATGTGACAAATTCAG AGAACTATGATTTTGACTCAAGGGTTTGCAGATTTCCTTTTTCACTCTAA TTTCAGTGTCTAAAGTCCTCACAACCATGAACAATCTGAGTATTTGATGA GACAGGGCTAAATATTGCAGTTTTTCTCCCAGAAATCATTTGAGGGTATT TGCTTTAAATTGATTGGAAAAATATGGCATAACTGTTTGCACAAACTTGG GACAAATGATATTGGGATAACGATCTACTAGAATAGGGACATTTTACCCA CAGTTTCTGGGAGAAAAACCGAGGAATTTCTATCATGACCAGCCTTCAGG CCTCCTGAAATATATCTCTCACAGTGTCCTATTCTTATGCTGAGGAGCCT GAGGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGGGAA TCAGCTTAATGTGTCTGTCCATGTCTGAATTTATTGCAGAAATTGAAAAG AAGGGGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAGAAGGAAAGAAG AAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAACCCACCATGCCCCAGGT GACTTTCAGCAATTGTGGATGCTTAATTCTGTGTTAACACCTGGAGGCAA CAGATTCAGAGAAACCAGACTGTGTTTGATGTCATGTTTTCAACGAAGGC TGAATTACTCCTACTGTCATTGCTGTTGGTTTTCATTGCAGTAGATGTTT AGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAACGTACCATAGGTTG ACCATACTTCAAAAGCTGTACTCTCATGGCCACTGCATCGAATTTTGAGC ATATTTTATGGAAAACTATTGAGCTCACTCTTTTCATGATCACAGTTTGC TGTGTGTCATGAGGGCACTAACTCACAGTGTCCTTTTACTCCCTTACCAG TATGTCACCTGGCCAATTCACTAGGTCACTTTCTCTCTGTCTCTGTCTCT GTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTTTCTCTTTCA TTGTTTTCTACCTGGCCCTGTTCTATCCCAACATAAAGGCAATAATTTGT TACCTCATTAATGGATCTGTCCTTTTTCTTTTCAAACTCTTCCTTAACGT TAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGGCTT ATTCTTTACTTTTTCCCACTTTTCCAGGCTCAGCAGGGAGCTGCTGGATG AGAAAGGGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACT CCTTCAGGTTGTCTTGAACTGACTGACTCATGCCAGCCCTACAGAAGTGC CTTTTACATATTGGAGCAACAGTGTGTTGGCTTGGCTGTTGACATGGATG GTGAGTACCTTTCTATGAAGGTGATAAGGATCCACTGAGTCTTCTGGTTA GGGTCATATTCCTACTGCAAGTGGCCCTTACTGAGCTGAGAGATGTCATT GCCACAGGGAGGACCTATAGGCACATGTAGGTTGAATGAAACTCTAGTTC CACTTGGCAGCCCAGACAAGGGATGGGTCAGTGAGCAAGGCTCTCTCCCT AGTCTCAGGCCATGCCTGTGGAGCCCTAATCCTACTCTCATGACACTGGA CCTGGGCAGATGTGACAAATTCACACAACTCTGATTTTGTCTCAATTTTG TAGATCTTGTAGATTTCATCCTTCACTCTAATTTCAGCGTCTAAAATCCT CGCTACCATGAACAATCTGAGTATTTGATGAGACAGGGCTGAATAGTGCA GTTTTTCTCCTAGCAACCATTTGGGGGTATTTGCTTTAAATCGATTGGAA AAATATGGCATAACCATTTGCACAAACTTGGGACAAATGATATTGGGATA ACGATCTACCAGAATAGGGAATTTTACCCACAGTTTCTGGGACAAAAACC AAGGAATCTCTATGGTGATCAGCCTTCAGGCCTCCTGAAGAATATCTCTC ACAGTGTCCTATTCTCATGCTGAGGAGCCTGAAGTCCCTGTGTGAGGATT AGACAGTGGATTGTTATGTGTGTAGGAGAACCAGCTTCATATGTCTGTCC ATGTCTGAACTTATTGCAGAAATTGAAAAGTACCAAGAAGTGGAAGAAGA CCAAGACCCATCATGCCCCAGGTAACTTTGAGCAATTATGGATGCTTAAT TCTGTGTTGACACCTGGAGATGCCAGGTCCAGGGAAAACAAGAGTGTGTT CAATTTCATGTTTTCAACGAAGGTTGAATTACTCCTACTGACATGGCTGT TGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCCCTTAA CATTTACTAACTTACTATAGGTTGACCATACCTCAAAGGCTGTATGGCAA CTGCATGGAATCTTGAGCAAGTTTATGGAAAATTATTGAGCCCACTCTTT TCATGATCACTGTTCGCTGTGTGTCCCGAGGGCACTAACTCAGAGTGTCC TTTGACCCCTTCATCAGTGTGTCACCCGGCCAACTCGCTGAGCTCACTTT CTCCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTGTCTTTCTCTT TCATTCTTTTCTACCTGGCCCTGGTCTATCCCAACATAAAGGCAATAATT CATTACCTCATTAATGGATCTGTCCTTTTTCTTTTTAAACAGTTCCTTAT GTTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGGC TTATTCTTTACTTTTTCCTACTTTTCCAGGCTCAGCAGGGAGCTGCTGGC TGAGAAAGAGCCTGAAGTCTTGCAGGACCCACTGGATAGATGTTATTCGA CTCCTTCAGGTTATCTTGAACTGCCTGACTTAGGCCAGCCCTACAGCAGT GCTGTTTACTCATTGGAGGAACAGTACCTTGGCTTGGCTCTTGACGTGGA CAGTGAGTACCTTACTATGAAGGTGATAAGCCTCCACCTGGTCTTCCAGA TAGGGGTGATATTCCTGTTCCAAGTGGCCCTTACTGACCCGAGAGATGTC ATTGCCGCAGGCAGGACCTATGGGCGCATATAGGTTGTAATGAAACTGTA GTCTCAGTTGGAAGCCTAGACATGAAATGGGTCAGTGAGCAAGGCTCTAT TCCTAGTCTCCAGCCATGCCTGTGGCAACCTGAGCCCGCTCTCAGCACAT TGGACCCAGGCAGATGTAAAAAATTCACAGAACTATGATTTGGACTCAAG GGTTTGTAGATTTCCTCCTTCATTCTAATTTCAGTGTCTAAAATTCTTAC ATCCATGAACGAGCTGGGCATTTGATGAGACAGGGCTGAATACTGCAGTT TTCCTCCTAGAAATCATCTGGGGCATTTTCTTTGAACTGATGGGAACAAT AAGGCATAACTGTTTGCACAAACTTGGGATAAGTGATTTTGGGATAACGA TCTT	A A	exon_loss_variant exon_loss_variant	HIGH	HG01358.hp2 HG01358.hp2	a0189 a0189	a0189c0052 a0189c0052	a0189c0052t0027 a0189c0052t0027	a0189c0052t0027g0231 a0189c0052t0027g0231	1	276	0.0036	-4753	c.881 others(17): Show c.8810+245_9542+244del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	74/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207667717	CAGAGTGA others(4745): Show CAGAGTGAAGAAAAAAACCTACAGAATGTGAGAAAATGTTTGCAACCTAT GCCTTTGACAAGGGGTTAATATCCAGAATATCTGAGGAACTCAAACAACT CAGCAAAATAAAACAAATAATATTATTTAAAAGTGGGCACAAGACCTGAA CAGACATCACTCAAAAGAAGACATAGAAATGGCCAACGAATATAAAACAA AATGCTCAACATTCTTAGTCATCAGAGAAATACAAAATAAAACCAGAGAG AGATATCACCTCACCCTAGTTATCAGAGCTCTTATCAAAAAGATAAAAGA TAACAAATGCTGCTGAGGATGTGGAAAATAGAGACCTCTTATACACTGTT AGGGAATCCAAATTAATATGGCCATTATGGGAAATAGTATGGAGGTTTCT CAAAAAATTAAAAGCAGAACTACCATATGATCCAGCAATCCCACTACTGG GTATATACCCAAAAGAAAGGAAACCAGTATGATGAAAAGATATCTGCACT CTCACATTCAATGATGCACTATTCACAATAGCCAAGGTATGGAATCAACC CAAGTGTTCACCAATGGACGAATGGATAAATAAAATGTGGTATATATACA CAAGGGAATACTATTCAGCCATAAGAAAGAATGAAATCCTATCATTTGCA GCAACATGGATGAATCTAGGGGATATTATATTAAATGAAGTAAATCAGGC ACAGAAAGACAAATCCTGTATGATATCAGTCATGTGCAATCTAAAAAAGC TCATCTCATAGAAGTAGAGAGTAGAATACTGGTTACCAGAGGTTGGGGTA GGGAGAGACAATGGGAGATGGAGAGAGATTGGTTAAAGGGCACAGGGTCA CAGATACATAAGAATAAATTCATCCTTGAATACTTAACCCTCTGCCCTAC ATCTGTCACTCCTACATCCATATTCATTGCTAATCCTGGGGCTAACTCTT GATTGCTTTCTTCTCACTACTAACCTTAAGAAAGGAAGTAACCAAAATCC AATACATGAGCAACTGTTCATTCCATCTCCAATATCTTTGTTAATTGTCC ACTTTATCCACCCAGTCAGGGCCACCATCAAACCTCACTTGGATGTCAGC AAAAGCTCCCTGGCTGGTCTCCCCTCTCCATTATTGCTTTAATCTAGTCT CCATACTATACACAGATTTACATTTTTTGAATATATATCTAATTGTCCTT CCCTTTTTAAAAATCTTACAATGGCATGACATCTCAATTCACGATAAGGA AATTGGTTCTTCACATTCCCTGTGCACTGTACACATCGCCTGCAATTGCC CTTCAACACAGAGAGCAGGCATTTCATTAGCTGACCTTCCCACACACATT CTTGCAAAGAGGAAAAGTCAAGCAGGGTGTTTGGAGGTGAGTTGCCATCA TCCACCGCCTTTGTCTGGAAGGAAGCGCAGGGCCTCACACGCGGGATCCA TCGGAAGCCCAAGCATTGTCAAGCTCTGCTGCTGCACCTGGGTCAGCAAG GTGGGCTCTGCCAGCGAAACTCGTTAGAAACAATGCAAATGGGGAGTAAA CATGGCCTTGCCCATGAAGGGGAAGCTGGTCAAAAGCATTTTGTCCCGGA ACCCCGCAGCCCTCCCCATGCTCTGGGCGCGGAGCACAAGGATTGGTCAC TCCTCTTTGCACTGCGCTTTTCCTCTTATTTCAGTTTTCTTCGAGATCAA ATCTGGTTTGTAGATGTGCTTCGGGAGGATGGGGGTCTCTTCTCCGAGAA GCCGGGAGCCTGTTGGGCAGCCGGCGCCCGGTCTCCCCTTCTGCTGCGGA GGATCCCTGCTGGCGGTCGTGGTGCTGCTCGCGCTGCCGGTGGCCTGGGG TGAAACGCTGGGGGGCGTGGGGAGGCGCCCGGGCTGACGAGGCACCCAGG GCCCCGCAGAGAACTCGCGTGCCGCGCTGGGCTGCGCTGCTCTGCGCGCC CGGGTCCAAAGGCAGCGCGATGGGTGGGCTGAGCGCGCTACCTGGCAGGG CGGCGGGTCTGGGATCCTTCTGCGCACTGGAGACCCTCGCTGCCTCTAGG TAAGCGTGGAGTTCCCACGTGCAGGGGCTTAAGTCGTGACGAGCGCAGTG GAAGGCGCAGATGCTGAGCGGGTGCCGCACGAAATTCCTTGCCTTTGTGT ATTCACAGCCTCGGCTGGCTATAGCCGAGCGTGGCGTCGATCCTAGCGAA ACGGGACTTGGGGATCCGACAAACCTGAGTTCTGGTCCTAGAAACTTAAC TGTGAGGCAAGTTAGCACACCTAAGTCTGTTTGCTCTTCTGTAAAATGGG GACACTGGTATCTCTGCATTGTGGAGTTGCTGCCTCAGTGGCATAAAGCC TGTCGAGTATCTAACACAGGGCCTGTCCCCGAGTCCATTTCTATCCCCCA ACCGTTACCTCTGCACTTTGCTCCCAGTGGTGTTTAGACAAGCAGTCCTA GGGATGTCCTGCATGGAACTGTCCTCGTCCCCTACCCCAAGCCACCACCG CCATCATCATGATGCACTTGATTGACAGCATACTTTAAGACAGATGCATG CCAGGCACTTGGGGATTAGAAGAGCAAGGGAAGCCCCAGAACATGCAATG TAACCGCTGCAGGTAGAAGGGACAGTAGATATGTTTACAATTTGCATTTT AGTGATGTGTTTAGTACAAAATAAAGCCTATTATAACTACTATGGAAATT TTGAGGCCACATCTCTTCCTTTTTTTAACTTCAAGTAGGTAAACATCTTC AGTTAGAACCCTTCTATTATTAGTTTTGGGCTCCCCAGAAGTCTTCTTGG TTGCCTAGACTCACTGGCAACATCTCACTTGAAGTGACAGTTTTGGTTGT TTTGGTCCTGTCTCTTCCTGACAACTCAGGGTTCGTCCTTCTCTGCCACT AGACGTTTTGCATTCATTATTTGAGTGTTCCTTCTTCTCTAAAAGAGTAA GGGGAAAAGAAAACCAAGTTCCCCCAAGAGTTGTTATTAATATTTGATCT CCTTAGGCACCAGAAAGTAACCTGTCTAGTGAAGAGATATGATAAAACTT ACAATTTTATTTTTAGGAGAGAAGCATGCCCAGTAAGTTAAGCAATCTGT TGTCAGTGCTTACTGAGGTTCTCACAATAACCTCCAAATGTGAAACAGCC TAAACTAAACTACCTAGAAATTTTGTTGCTGGAGTAATTTCAATTTTAAA ATGCTTATGGATGCTTCCGGTGTGCACAGTCCTTTGGAATTTAAAAGAAA TGTAAGAGAAAGAGCTATGCTCCCAAGGTGTATGCATATAGAAGTAGGTG GTGGAGTTTTATGAAATCTACTTTTTAGGAAGCCAGTGTTCTGGTTTTTC CAGACTCTGCTACTTACCAACTGGGGCTGTGGACCCAGCAACTTAAGTCA CATCACTGACCTTCAGTGTCCACGTGTATAAAATGAGCATGACTGACATC CTGATTTCTGAGAGAGGTATTTTGAAAATCAGGTGGGGTAGTGCATGTGA CAGCGTTTTGTAATCTGAAAACCCTCATGCATGTCTGAAAAACCATGACT AAGCAGTCGTGCAAGACTGCAGGATCACTGAAAAGGGAGAAATCTCAACT CCTATGATCAGGAAAGGGTGAGGGAAAAGAGTATGACTTTACTAGCACTT GAAGAGTGAATCCAGAAACAGGTTGCATAGGACAGTTTATGGGAATATTT ATATATAAAAAATAACAGAGGAACTAGGATTGTTTTGTCATTAGAGGGTA CTCCTACTACCCATGAAGTGGTATGGTGCTATTTGAAAGAGAACTTAGAT TAGCTGCAAATAGATATTGCAAACTTAGGGCAACTACTGAAAAAAGTGAA AAAAAGAAGTACAATTGATATGCCAGTAAGGAAGAGTGAATTGCATCATA TAAAATGCTCAGTTAAAACAATAAACGGGGCCAGGCGCAGTGGCTCACAC CTATAATCCCAGCACTTTAGGAGGCAGGGTAGATAACTTGAGGTCAGGAC TTTGAGACCAGCCTGGCCAACATGGTGAATACCCATTTCTACAAAAATCC AAAAATTAGCTGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTCAGG AGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGA GCCGAGATCATGCCACTACACTCCAGCCTGGGCGAAAGAGTGAGACTCTG TCTCAAAAATAAAAATAAAATAAAATAAAGGTCAGGAAAAGAATGCAAGA CAAAAAATAGAAACAGAGAACAAGAGAAGAAAGACAACAAATAGAAACAA GTAACATATTAAACCAACTATATCAACCATCATTTTGAGTGTCAATGATC TAAAGGCACCAATTGAAACAGATCATCAGAGTCGATCAACAAACAAAACT CAACTATATATTGTGTACTCCCTATAAGACCATTTTAAATATAGACAATA TATATTAAAAGTAAATGGGTAAAGATATACCATGCTAATGCTAGTCACAG AAAGCAGGAGTAGCTGTGTTAATTTCAAACACAGCAGACTTCAGACGAAG GAAAATTATTAGGAATAAAGAGGGTCATCATATAATGATAAAGGGGCTAA TTCTCCAAGAAGGCATAACAATATCTAATATGTATCCATCTGACAGAGAA ACAAAATATGTGGGGCAAAGCTGATAGAACTGCAAGGAGAAATAGATGAA TGCACTATCATAGTTGGAGACTTCAGCACCTTTATCTTTTCTGATATCAG AAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02257.hp1 others(9): Show HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02723.hp2 HG02809.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp1 NA19043.hp1	a0002 a0006 a0018 others(4): Show a0002 a0006 a0018 a0019 a0022 a0023 a0026	a0002c0002 a0006c0006 a0018c0021 others(4): Show a0002c0002 a0006c0006 a0018c0021 a0019c0022 a0022c0032 a0023c0033 a0026c0031	a0002c0002t0001 a0006c0006t0001 a0018c0021t0001 others(4): Show a0002c0002t0001 a0006c0006t0001 a0018c0021t0001 a0019c0022t0001 a0022c0032t0001 a0023c0033t0001 a0026c0031t0001	a0002c0002t0001g0003 a0002c0002t0001g0264 a0002c0002t0001g0267 others(7): Show a0002c0002t0001g0003 a0002c0002t0001g0264 a0002c0002t0001g0267 a0006c0006t0001g0327 a0018c0021t0001g0266 a0018c0021t0001g0268 a0019c0022t0001g0265 a0022c0032t0001g0270 a0023c0033t0001g0269 a0026c0031t0001g0263	12	346	0.0347	-4752	c.98- others(15): Show c.98-9668_98-4917del		CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149514741	ATCTGTCT others(4745): Show ATCTGTCTTTCTCTTTCATTCTTTTCCATTTGGCCCTGTTCTGTCCCAAC ATGAAGGCAATAATTTGTTACCTCATTAATGGATCTATCCTTTTAGTTTC TTAACCACTTCCCTATGCTACCCATGAAACCTAGTTGGGGCTCTGTTGTG TGTGATTTCCCCTGGCTTATTCTTTACTTTTTCCTCCTTTTCCAGGCTCA GCAGGGAGCTGCTGGAGGTAGTAGAGCCTGAAGTCTTGCAGGACTCACTG GATAGATGTTATTCAACTCCTTCCAGTTGTCTTGAACAGCCTGACTCCTG CCAGCCCTATGGAAGTTCCTTTTATGCATTGGAGGAAAAACATGTTGGCT TTTCTCTTGACGTGGGAGGTGAGTACCTTTCTATGAAGGTGATAAGCACC ACTGAGTCTTCCATATAAAGATCATATTCCTGCTCCAAGTGGCCATTACT GAGCTGAGAGATGTCGTTGCCGCAGTGAGGACCTATAGGCACATGTAGGT TGAATGAAACTCTAGTTCTACCTGGAAGCCCAGACAAGGGATGGGTCAGT GAGCAAGACTCTCTTCCTAGTCTCAGGCCATACCTGTGGCGCCCTGATCC TATTCTCATGACATTGGACCTGGGCAGATGTGACAAATTCAGAGAACTAT GATTTTGACTCAAGGGTTTGTAGATTTCCTTTTTCACTCTAATTTCAGTG TCTAAAGTCCTCACAACCATGAACAATCTGAGTATTTGATGAGACAGGGC TAAATATTGCAGTTTTTCTCCTAGAAATCATTTGAGGGTATTTGCTTTAA ATTGATTGGAAAAATGTGGCATAACTGTTTGCACAAACTTGGGACAAATG ATATTGGGATAACGATCTACTAGAATAGGGACATTTTACCCACAGTTTCT GGGAGAAAAACCGAGGAATTTCTATCATGACCAGCCTTCAGGCCTCCTGA AATATATCTCTCACAGTGTCCTATTCTTATGCTGAGGAGCCTGAGGTCCC TGTGTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGGGAATCAGCTTA ATGTGTCTGTCCATGTCTGAATTTATTGCAGAAATTGAAAAGAAGGGGAA GGGGAAGAAAAGAAGGGGAAGAAGATCAAAGAAGGAAAGAAGAAGGGGAA GAAAAGAAGGGGAAGAAGATCAAAACCCACCATGCCCCAGGTGACTTTCA GCAATTGTGGATGCTTAATTCTGTGTTAACACCTGGAGGCAACAGATTCA GGGAAACCAGAGCGTGTTTGATGTCATGTTTTCAACGAAGGCTGAATTAC TCCTACTGTCATTGCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCC ATTTCTTCCTCCCCTTATCATTTACTAGCGTACCATAGGTTGACCATACT TCAAAAGCTGTACTCTCATGGCCACTGCATCGAATTTTGAGCATATTTTA TGGAAAACTATTGAGCTCACTCTTTTCATGATCACAGTTTGCTGTGTGTC ATGAGGGCACTAACTCAGAGTGTCCTTTTACTCCCTTACCAGTATGTCAC CTGGCCAATTCACTAGGTCACTTTCTCTCTGTCTCTGTCTCTGTCTCTCT CTCTGTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTTTCTCTTTCATTGT TTTCTACCTGGCCCTGTTCTATCCCAACATAAAGGCAATAATTTGTTCCC TCATTAATGGATCTGTCCTTTTTCTTTTCAAACTCTTCCTTAACGTTAGC CATGAAATCTAGCTGGGGCTGTGCGGTTTCTGATTCCCCCTGGCTTATTC TTTACTTTTTCCCACTTTTCCAGGCTCAGCAGGGAGCTGCTGGATGAGAA AGGGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTCCTT CAGGTTGTCTTGAACTGACTGACTCATGCCAGCCCTACAGAAGTGCCTTT TACATATTGGAGCAACAGTGTGTTGGCTTGGCTGTTGACATGGATGGTGA GTACCTTTCTATGAAGGTGATAAGGATCCACTGAGTCTTCTGGTTAGGGT CATATTCCTACTGCAAGTGGCCCTTACTGAGCTGAGAGATGTCATTGCCA CAGGGAGGACCTATAGGCACATGTAGGTTGAATGAAACTCTAGTTCCACT TGGCAGCCCAGACAAGGGATGGGTCAGTGAGCAAGGCTCTCTCCCTAGTC TCAGGCCATGCCTGTGGCGCCCTAATCCTACTCTCATGACATTGGACCTG GGCAGATGTGACAAATTCACACAACTCTGATTTTGTCTCAATTTTGTAGA TCTTGTAGATTTCATCCTTCACTCTAATTTCAGCGTCTAAAATCCTCGCT ACCATGAACAATCTGAGTATTTGATGAGACAGGGCTGAATAGTGCAGTTT TTCTCCTAGCAACCATTTGGGGGTATTTGCTTTAAATCGATTGGAAAAAT ATGGCATAACCATTTGCACAAACTTGGGACAAATGATATTGGGATAACGA TCTACCAGAATAGGGAATTTTACCCACAGTTTCTGGGACAAAAACCAAGG AATCTCTATGGTGATCAGCCTTCAGGCCTCCTGAAGAATATCTCTCACAG TGTCCTATTCTCATGCTGAGGAGCCTGAAGTTCCTGTGTGAGGATTAGAC AGTGGATTGTTATGTGTGTAGGAGAACCAGCTTCATATGTCTGTCCATGT CTGAACTTATTGCAGAAATTGAAAAGTACCAAGAAGTGGAAGAAGACCAA GACCCATCATGCCCCAGGTAACTTTGAGCAATTATGGATGCTTAATTCTG TGTTGACACCTGGAGATGCCAGGTCCAGGGAAAACAAGAGTGTGTTCAAT TTCATGTTTTCAACGAAGGTTGAATTACTCCTACTGACATGGCTGTTGGT TTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCCCTTAACATT TACTAACTTACTATAGGTTGACCATACCTCAAAGGCTGTATGGCAACTGC ATGGAATCTTGAGCAAGTTTATGGAAAATTATTGAGCCCACTCTTTTCAT GATCACTGTTCGCTGTGTGTCCCGAGGGCACTAACTCAGAGTGTCCTTTG ACCCCTTCATCAGTGTGTCACCCGGCCAACTCGCTGAGCTCACTTTCTCC TCTCTCTCTCTCTCTCTCTCCCTCTCCCTGTCTTTCTCTTTCATTCTTTT CTACCTGGCCCTGGTCTATCCCAACATAAAGGCAATAATTCATTACCTCA TTAATGGATCTGTCCTTTTTCTTTTTAAACAGTTCCTTATGTTAGCCATG AAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGGCTTATTCTTTA CTTTTTCCTACTTTTCCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGAG CCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCGACTCCTTCAGG TTATCTTGAACTGCCTGACTTAGGCCAGCCCTACAGCAGTGCTGTTTACT CATTGGAGGAACAGTACCTTGGCTTGGCTCTTGACGTGGACAGTGAGTAC CTTACTATGAAGGTGATAAGCCTCCACCTGGTCTTCCAGATAGGGGTGAT ATTCCTGTTCCAAGTGGCCCTTACTGACCCGAGAGATGTCATTGCCGCAG GCAGGACCTATGGGCGCATATAGGTTGTAATGAAACTGTAGTCTCAGTTG GAAGCCTAGACATGAAATGGGTCAGTGAGCAAGGCTCTATTCCTAGTCTC CAGCCATGCCTGTGGCAACCTGAGCCCGCTCTCAGCACATTGGACCCAGG CAGATGTAAAAAATTCACAGAACTATGATTTGGACTCAAGGGTTTGTGGA TTTCCTCCTTCATTCTAATTTCAGTGTCTAAAATTCTTGCATCCATGAAC GAGCTGGGCATTTGATGAGACAGGGCTGAATACTGCAGTTTTCCTCCTAG AAATCATCTGGGGCATTTTCTTTGAACTGATGGGAACAATAAGGCATAAC TGTTTGCACAAACTTGGGATAAGTGATTTTGGGATAACGATCTACCAGAA TGGGGATATTTCACCCTTGGTTCTGAGATGCAAACCAAAGAATATCATGA CCAGCTTTCAGGCCTCCTGAAGTATATCTCTCACATTGTCCTGTTCTCAT GCTGAGGAGCCTGAGATCCCTGTGTGGGGATTAGACAGTGGACTGTTATG GGTGTAGGTGAATTGGCTTATTTTGTCTGTCCCTGTCTGAATGTATTGCA GGAATTAAAAAGGACCAAGAAGAGGAAGAAGACCAAGGCCCACCATGCCC CAGGTAACTGAGCAATTGTGAACAGCTACTTCTGTGTTGACATCTGGAGA CTCCTGGTTCAGGGAAAACAGAGCGGGCTGACATTATCGATTACATCTTT TCAAGCAAGCCTGAATTATTCCTACTAACATTGCTGTTGGTTTTCATTGC AGTAGATATTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAACCT ACTGTAGGTGGACCAGACTTCAAAAACTGTATTCTCATGGCGACTGCATG GAAACTTGAGCACATTTTATGGAAAATTATTGAGCACAGTCTTTTCATGA TCACTGTATGCTGTGTGTCCTGAGGGCACTAACTCAGAGTGTCCTGTTAC TCCCTCATCAGTGTGTCACCTGGACAATTCACTGAGCTCGTTCTCTCTCT CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	A A	exon_loss_variant exon_loss_variant	HIGH	HG03710.hp1 HG03710.hp1	a0064 a0064	a0064c0094 a0064c0094	a0064c0094t0001 a0064c0094t0001	a0064c0094t0001g0047 a0064c0094t0001g0047	1	276	0.0036	-4752	c.532 others(15): Show c.5323+31_6055+30del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	45/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT14_chr1_209933217_210176315	210111289	TGTCACAA others(4745): Show TGTCACAAGGTGCTCAGTGGGGGAGTTTCTGAGCCAGGAGAAGGAATTTC ACAAGGTAATGTCATCAGTTAAGGCAGGAACCGGCCATTTTCACTTCTTT TGTCATTCAGTTACTTCAGGCCATCTGGATGTATACATGCAGGCTTGGGC CCAGAGGCCTGACATTGTTTTCTTAATAAGAAAAATAAAACAAAATACTG TTGAAGTGTTGGGGTGGCGAACATTTTTGGGGGTGGTATGGAGAGATAAT GGGCAATGTTTCTCAGGGCTGCTTCGAGCGGGATTAGGTTCGGCATGGGA ACCTAGAGTAGGAGAGATTAAGCTGAAGGAAGATTTTGTGGTAAGGGGTA ATACTGTAGGGTTGTTAGAAGAAACATTTGTTGTATAGAATGATTGGTGA TGGCCTGGATGCGGTTTTGTATGAATTGAAAAAGTAAACAGAAGACACGA AGTCCGAATAATAGGAGAAAAACAGATATTAAAGGACTAAGAATTGGGAG GACCCAGGACATCCAATTAGAGAGTGCCTAAGGGGGTTCAGCGGAATTAC TTGCTTTGTTGGCAAGTTTTTGGGTTCTATCCTTAATATAGTCCTCCTTT TTAAGTTGGAGGCTGTGAGGTGAGGTGTGTTTTTAAAAGACCATTAGTCC ATTTTATCTTTCCTGAAGGTTGAGGGTGGTAAGGGGCATGAAGGTTTCAC TGAATACCAAGAGCCTGAGAAACTGCTTGGGAGATTTGACTAGTAAAGGC CGGTCCGTTATCAGACTGTACAGAGGTGGGAAGGCCAAACCAAGGAATTA TGTCTCACAGAAGGGAAGAAATGACTGCAGTGGCTTTCTCAGACCCTGTG GGAAAGGCCTCTACCCATCCAGTGGAAGTGTCTACCCAGACCAAGTGGTA TTTTAGTTTCCTGACTCAGGGCATGTGAGTTAAGTCAATTTGCCAGTCCT GGGCAGGGGCAAATCCCCGAGCTTGATGTGTAGGGAAGGGAGGGGGCCTG AACAATCCCTGAGGAGGAGTGGAATAGCAGATGGAACACTGAGAAGTGAT TTTCTTGAGGACAGATTTCCACGATGGAAAGGAAATGAGAGGTTCTAAGA GGCAGGCTAGTGGCTTGTAACCTACATGGAAGAGGTTATGAAATAATGAC AGAATAGAATGGGCCTATGAGGCCGGAAGGAGATACTTTCCTTGGTCCAA AAACCATTTGCCTTGTGTCGGAAGAGATTGATAAGTGGAAGTTGTAGTGG GGGAGTATTTGGGAGTGACCGATGAGAAGGAGAAAAACTGACAGTGAGGG ACGGAAGTTGGAAGCTAGCTGCTGCTTTAGCTACCTTGTCAGCAGAAGTG TTGCCCTGAGCGATGGGATCTGATGCCTTTTGATGGCCCTTGCAGTGAAT GACTCCAGCTTCCTTTGGAAGTAAAGCAGCCTTGAGAAGAGTTTTTATTA AAGAGGCATTAATGATGGAGGACCCTTGCGTAGTGAGGAAACTTCTTTTT GCCTATATAACAGCATGGTGGTGCAGGATATGGAAGGCATATTTAGAGTC AGTATAAATATTGACATGTAGTCTTTTGCAAGAGTGAGGGCTCGAGTCAA GGCAATGAGTTCAGCTTGCTGAGAGGTGGTGGAAGGGGGCAGAAAGTATA TGCGTCAGGTGTGAGGAAGAAAATAGATTTTGCAAGTTTTGAGAACTGTA GAGAGTGAGTTGAGCATAGTTTTTTATTTTGAGGGCCTCTAAAAGTATTA AAGCAGCGGCAGCCGCCGCACGCAGACATGAGAGCTAAGCTAAAACACTA AGGTCAAGTTGTTTGGACAAAAAGGCTACAGGGCGTGGTCCCGGCTCTTG TGTAAGAACTCTGACCGCACAGCCCTGCACTTCGGCTGTGTGTAATGAAA AGGGAGTGATGAGTTAGGGAGAGCTAGTGTGGGAGCTGTTTTTTAAGGAA TGGAAAGGGGAGTGGGGAAAGGATTTAGGATCTGTGGGGTCAGCTAGGTT TATCTAGAGCAGAATAATGGGTTGTGGAGGGGTTGTGGAGGGAGGTACTG AGGATAGGAGAGTATATGGGTTTGGCACCATGAGGTGGATAGGCAAAACA ATTTAGTTGATAAGGCACAGATCCTGAACTAACTTGTAAGACTTGTCCGG TTTTTGGACAGGTAAAATGGGTGAATTGTAAGGAGAGTTTATAGGCTTTA AAAGGCCATGCTGTAACAGGCAAGTGATAACAGGCTTTAATCCTTTTAAA GCATACTGTGGGATGGGATATTGGTGTTGAGCGGGGTAAGGGTGATTAGG TTTTAATGAGATGGTAAGGGGTGCATGATCGGTTGCTAAGGAGGGAGTAG AGGTGTCCCATACTTGTGGATTAAGGTGGGGAGATAGAAGGGGAGGATGT GAAGGAAGCTTTGAACTGGGGAAAAGGGTGGCAATGAGGTGTGGCTGTAG CCTAGGAATAGTCAGGGAAGCAGATAATTTAGTTGAAATGTCTCCACCTA ATAAGGGAGCTGGGCAGGTGGGGATAACTAAAAAGGAGCGCATAAAAGAA TGTTGTCCAAGTTGGCACCAGAGTTGGGGAGTTTTAAGAGGTTTAGAAGC CTGGCCATCAATACCCACAACAGTTATGGAGGCAAAGAAAATAGGCCCTT GAAAAGAAAGTAATGTGGAGTTGGTAGCCTCCACATTGATTAAGAAGGGG ACGGACTTACCTTCCACTGTAAGAGTTACTGAAAGAGTCTGTGTTGGTCC AGGAGGCTTCTGAGGCAATCGGGCAGTGTCAGTCTTCAGCCGCTATGCCG AGAAGATCTGGGAAGGAGTCAGTCAGAGAGCCTTGGGCTAGAGTTCCAGG GACTCTGGGAGTGGCTGCCAGGCAAGCTGGACAGTCCGATTTCCAGTGGG GTCCCTCACAGATGGGACATGGTTTAGGAGGAATCCCGGGCTGCAGGCAT TCCTTGGCCCAGTGGCCAGATTTCCAGCACTTAAAGCAAGATCCTGGGGG AGGAGGTCCTGAAGGAACGCCTGACCACTGTGGCTTAGGTGTTTTGAAGT TCTTGTGTGCTGGAGATGTGGCTGGGGTTCCTCTCACAGCAGAGGCAGGT AATTGCAACTCTTCTCTATTATTGTACACCTTGAAGGCGAGGTTAATCAA GTCCTGTTGTGGGGTTTGAGGGCTGGAATTTAATTTTTGGAGCTTTATTT AATATTGGGAGCAGATTGGGTAATAAAATGCATATTGAGAATAAGATGGC CTTCTGACCCTTCAGGGTCTGGGGCTGTAAAGCATCTAAGGGTTGTTGCC AAACGGGCCATGAACTGGGCTGAGTTTTTATATTTGATAAAAAGGAGCCT AAACGCTAACTGATATGGGAGAGGTCGGATAAAGAAAAAGGAGCATTAAC CTTGACTGTGCCTTTAGCTCCAGCCACCTCTTTAAGATGAAATTGTTGGG CAGGTCAGGGAGGGCTAGTCATGGAACAAAACTGTAAACTGGACCAGGTG TGAGGAGGGGAGGTGATAAAAGGATTATAGGGTGGGGGAGCAGAGAATGA GGAAGAATTGGGACCTGGCTCGGCCTAGCAAGGAGCAGCCTGGGGAGGAG GGGAGAGGTCAGATGGGTCCATAGAAAAGGAAGATTGGAAAGACTTAGCA ATGCTTAGGGTTGGGACTGAGGGGACAGGCAGGAGGGAAAGAAGGAATAT TTGGGACGAGTTGCATTGGGAACAGAGACTAGGGAGGGACTGATGTGTAA AAGAATGCCTGGACATCAGGCATCTCAGACCATTTGCCCATTTTACGACA AGAATTATCTAGATCTTGTAGGATGGAAAAATCGAAAGTGCCATTTTCTG GCTATTTGGAACCATTGTCGAGTTTGTATTGGGGTTAAGCAGCATTGCAG AACAAAATAAGGCATTTAGGTTTTAGGTCAGGTGTGAGTTGAAGAGGTTT TAAGTTCTTGAGAACACAGGCTAAGGGAGAAGAAGGAGGAATGGAGGGTG GAAGGTTGTCTATAGTGAAGGATGCAAGCCCAGAGAAAAGAGAGGGTAGA GACACAGAGAGAAGGGTTGGGGGGTGCTTGCCCCCCAGGAAAGTGGTGCT TGCCACTAAGGGTGAAGGATCAAGGCAGGCATCCCTGCAGTGATCAGACA CCTCTGAAACATGGGTGAATAATCAAGCAGGCGTCCCCGCAGTGATTAAA CACCAAGGGAAGACTGTCTTCCAGAGTCCGTTACCAGCACCGGAGTTTTG GGTTCATGGATAAAATGTGTCTTCTCTGTCTCTACCAGAAAAGGAAAGGA ACTGAAATTAAGAGAAGGGAGAGATTGAAGGATGGCGGCAAGGTTGAAAG GAGAAAGAGGTTGAGGGATAGTGAGAGAGGTTGGAGAAGAGAGTAAAAAG AGGCCACTTACCCGATTTAAAATTGGTGAGATGTTCCTTGGGCTGGTTGG TCTGAGGACCCGAGGTCGTAGGTGGATCTTTCTCATGGAGCAAAGAGCAG GAGGACAAGGGATTGATCTCCCAAGGGAGGTCTCCCAGTCTGAGTCACGG CACCAAATTTCATGTGCATCTGTGTGAAGAGACCACCAGGCTTTGTGTGA GCAATAAAGCTTTTTAATCATCTGGGTGCAGGCAGGCTGAGTCCGAAAAG AGAGTCAGCGAAGAGAGGTAGGGGTGGGCCGTTTTATAGGATTTGGGTGG GTAGTGGAAAATTATAGTCAATAGGGGTTGTTCTCTGGTGAGCAGGGGCG GGG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02895.hp2 others(4): Show HG02280.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG03540.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0031 a0001c0001t0040 others(2): Show a0001c0001t0013 a0001c0001t0031 a0001c0001t0040 a0001c0001t0077 a0001c0001t0078	a0001c0001t0013g0309 a0001c0001t0013g0310 a0001c0001t0013g0311 others(4): Show a0001c0001t0013g0309 a0001c0001t0013g0310 a0001c0001t0013g0311 a0001c0001t0031g0258 a0001c0001t0040g0140 a0001c0001t0077g0308 a0001c0001t0078g0132	7	358	0.0196	-4752	c.116 others(21): Show c.1164+10853_1164+15604del		SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149521269	CGGTTTCT others(4744): Show CGGTTTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCCACTTTTCCAG GCTCAGCAGGGAGCTGCTGGATGAGAAAGGGCCTGAAGTCTTGCAGGACT CACTGGATAGATGTTATTCAACTCCTTCAGGTTGTCTTGAACTGACTGAC TCATGCCAGCCCTACAGAAGTGCCTTTTACATATTGGAGCAACAGTGTGT TGGCTTGGCTGTTGACATGGATGGTGAGTACCTTTCTATGAAGGTGATAA GGATCCACTGAGTCTTCTGGTTAGGGTCATATTCCTACTGCAAGTGGCCC TTACTGAGCTGAGAGATGTCATTGCCACAGGGAGGACCTATAGGCACATG TAGGTTGAATGAAACTCTAGTTCCACTTGGCAGCCCAGACAAGGGATGGG TCAGTGAGCAAGGCTCTCTCCCTAGTCTCAGGCCATGCCTGTGGCGCCCT AATCCTACTCTCATGACACTGGACCTGGGCAGATGTGACAAATTCACACA ACTCTGATTTTGTCTCAATTTTGTAGATCTTGTAGATTTCATCCTTCACT CTAATTTCAGCGTCTAAAATCCTCGCTACCATGAACAATCTGAGTATTTG ATGAGACAGGGCTGAATAGTGCAGTTTTTCTCCTAGCAACCATTTGGGGG TATTTGCTTTAAATCGATTGGAAAAATATGGCATAACCATTTGCACAAAC TTGGGACAAATGATATTGGGATAACGATCTACCAGAATAGGGAATTTTAC CCACAGTTTCTGGGACAAAAACCAAGGAATCTCTATGGTGATCAGCCTTC AGGCCTCCTGAAGAATATCTCTCACAGTGTCCTATTCTCATGCTGAGGAG CCTGAAGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGA GAACCAGCTTCATATGTCTGTCCATGTCTGAACTTATTGCAGAAATTGAA AAGTACCAAGAAGTGGAAGAAGACCAAGACCCATCATGCCCCAGGTAACT TTGAGCAATTATGGATGCTTAATTCTGTGTTGACACCTGGAGATGCCAGG TCCAGGGAAAACAAGAGTGTGTTCAATTTCATGTTTTCAACGAAGGTTGA ATTACTCCTACTGACATGGCTGTTGGTTTTCATTGCAGTAGATGTTTAGG TTTCCATTTCTTCCTCCCCTTAACATTTACTAACTTACTATAGGTTGACC ATACCTCAAAGGCTGTATGGCAACTGCATGGAATCTTGAGCAAGTTTATG GAAAATTATTGAGCCCACTCTTTTCATGATCACTGTTCGCTGTGTGTCCC GAGGGCACTAACTCAGAGTGTCCTTTGACCCCTTCATCAGTGTGTCACCC GGCCAACTCGCTGAGCTCACTTTCTCCTCTCTCTCTCTCTCTCTCTCCCT CTCCCTGTCTTTCTCTTTCATTCTTTTCTACCTGGCCCTGGTCTATCCCA ACATAAAGGCAATAATTCATTACCTCATTAATGGATCTGTCCTTTTTCTT TTTAAACAGTTCCTTATGTTAGCCATGAAATCTAGCTGGGGCTGTGTGGT TTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCTACTTTTCCAGGCTC AGCAGGGAGCTGCTGGATGAGAAAGAGCCTGAAGTCTTGCAGGACTCACT GGATAGATGTTATTCGACTCCTTCAGGTTATCTTGAACTGCCTGACTTAG GCCAGCCCTACAGCAGTGCTGTTTACTCATTGGAGGAACAGTACCTTGGC TTGGCTCTTGACGTGGACAGTGAGTACCTTACTATGAAGGTGATAAGCCT CCACCTGGTCTTCCAGATAGGGGTGATATTCCTGTTCCAAGTGGCCCTTA CTGACCCGAGAGATGTCATTGCCGCAGGCAGGACCTATGGGCGCATATAG GTTGTAATGAAACTGTAGTCTCAGTTGGAAGCCTAGACATGAAATGGGTC AGTGAGCAAGGCTCTATTCCTAGTCTCCAGCCATGCCTGTGGCAACCTGA GCCCGCTCTCAGCACATTGGACCCAGGCAGATGTAAAAAATTCACAGAAC TATGATTTGGACTCAAGGGTTTGTGGATTTCCTCCTTCATTCTAATTTCA GTGTCTAAAATTCTTGCATCCATGAACGAGCTGGGCATTTGATGAGACAG GGCTGAATACTGCAGTTTTCCTCCTAGAAATCATCTGGGGCATTTTCTTT GAACTGATGGGAACAATAAGGCATAACTGTTTGCACAAACTTGGGATAAG TGATTTTGGGATAACGATCTACCAGAATGGGGATATTTCACCCTTGGTTC TGAGATGCAAACCAAAGAATATCATGACCAGCTTTCAGGCCTCCTGAAGT ATATCTCTCACATTGTCCTGTTCTCATGCTGAGGAGCCTGAGATCCCTGT GTGGGGATTAGACAGTGGACTGTTATGGGTGTAGGTGAATTGGCTTATTT TGTCTGTCCCTGTCTGAATGTATTGCAGGAATTAAAAAGGACCAAGAAGA GGAAGAAGACCAAGGCCCACCATGCCCCAGGTAACTGAGCAGTTGTGAAC AGCTACTTCTGTGTTGACATCTGGAGACTCCTGGTTCAGGGAAAACAGAG CGGGCTGACATTATCGATTACATCTTTTCAAGCAAGCCTGAATTATTCCT ACTAACATTGCTGTTGGTTTTCATTGCAGTAGATATTTAGGTTTCCATTT CTTCCTCCCCTTATCATTTACTAACCTACTGTAGGTGGACCAGACTTCAA AAACTGTATTCTCATGGCGACTGCGTGGAAACTTGAGCACATTTTATGGA AAATTATTGAGCACAGTCTTTTCATGATCACTGTATGCTGTGTGTCCTGA GGGCACTAACTCAGAGTGTCCTGTTACTCCCTCATCAGTGTGTCACCTGG ACAATTCACTGAGCTCGTTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATCTGTCTTTCTCTTTCAT TCTTTTCCATTTGGCCCTGTTCTGTCCCAACATGAAGGCAATAATTTGTT ACCTCATTAATGGATCTATCCTTTTAGTTTCTTAACCACTTCCCTATGCT ACCCATGAAACCTAGTTGGGGCTCTGTTGTGTGTGATTTCCCCTGGCTTA TTCTTTACTTTTTCCTCCTTTTCCAGGCTCAGCAGGGAGCTGCTGGAGGT AGTAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTC CTTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAGCCCTATGGAAGTTCC TTTTATGCATTGGAGGAAAAACATGTTGGCTTTTCTCTTGACGTGGGAGG TGAGTACCTTTCTATGAAGGTGATAAGCATCCACTGAGTCTTCCATATAA AGATCATATTCCTGCTCCAAGTGGCCATTACTGAGCTGAGAGATGTCATT GCCGCAGTGAGGACCTATAGGCACATGTAGGTTGAATGAAACTCTAGTTC TACCTGGAAGCCCAGACATGGGATGGGTCAGTGAGCATGGCTCTCTTCCT AGTCTCAGGCCATACCTGTGGCACTCTGATTCTACTCTCATGACATTGGA CCTGGGCAGATGTGACAAATTCAGAGAACTATGATTTTGACTCAAGGGTT TGCAGATTTCCTTTTTCACTCTAATTTCAGTGTCTAAAGTCCTCACAACC ATGAACAATCTGAGTATTTGATGAGACAGGGCTAAATATTGCAGTTTTTC TCCCAGAAATCATTTGAGGGTATTTGCTTTAAATTGATTGGAAAAATATG GCATAACTGTTTGCACAAACTTGGGACAAATGATATTGGGATAACGATCT ACTAGAATAGGGACATTTTACCCACAGTTTCTGGGAGAAAAACCGAGGAA TTTCTATCATGACCAGCCTTCAGGCCTCCTGAAATATATCTCTCACAGTG TCCTATTCTTATGCTGAGGAGCCTGAGGTCCCTGTGTGAGGATTAGACAG TGGATTGTTATGTGTGTAGGGGAATCAGCTTAATGTGTCTGTCCATGTCT GAATTTATTGCAGAAATTGAAAAGAAGGGGAAGGGGAAGAAAAGAAGGGG AAGAAGATCAAAGAAGGAAAGAAGAAGGGGAAGAAAAGAAGGGGAAGAAG ATCAAAACCCACCATGCCCCAGGTGACTTTCAGCAATTGTGGATGCTTAA TTCTGTGTTAACACCTGGAGGCAACAGATTCAGGGAAACCAGAGTGTGTT TGATGTCATGTTTTCAACGAAGGCTGAATTACTCCTACTGTCATTGCTGT TGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCCCTTAT CATTTACTAACGTACCATAGGTTGACCATACTTCAAAAGCTGTACTCTCA TGGCCACTGCATCGAATTTTGAGCATATTTTATGGAAAACTATTGAGCTC ACTCTTTTCATGATCACAGTTTGCTGTGTGTCATGAGGGCACTAACTCAG AGTGTCCTTTTACTCCCTTACCAGTATGTCACCTGGCCAATTCACTAGGT CACTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCT CTCTCTCTCTGTCTTTCTCTTTCATTGTTTTCTACCTGGCCCTGTTCTAT CCCAACATAAAGGCAATAATTTGTTACCTCATTAATGGATCTGTCCTTTT TCTTTTCAAACTCTTCCTTAACGTTAGCCATGAAATCTAGCTGGGGCTGT GT	C C	exon_loss_variant exon_loss_variant	HIGH	HG01168.hp1 HG01496.hp2 NA18982.hp1 others(2): Show HG01168.hp1 HG01496.hp2 NA18982.hp1 NA18982.hp2 NA19062.hp1	a0026 a0113 a0201 others(1): Show a0026 a0113 a0201 a0212	a0026c0030 a0113c0134 a0201c0063 others(1): Show a0026c0030 a0113c0134 a0201c0063 a0212c0069	a0026c0030t0001 a0113c0134t0001 a0201c0063t0002 others(1): Show a0026c0030t0001 a0113c0134t0001 a0201c0063t0002 a0212c0069t0002	a0026c0030t0001g0030 a0026c0030t0001g0035 a0113c0134t0001g0065 others(2): Show a0026c0030t0001g0030 a0026c0030t0001g0035 a0113c0134t0001g0065 a0201c0063t0002g0222 a0212c0069t0002g0245	5	276	0.0181	-4751	c.633 others(17): Show c.6337+246_7069+245del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	53/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
USP17L7_chr8_12127417_12139099	12132532	TTCGTCGA others(4744): Show TTCGTCGAAGAGAGGTTTAGCAGGGAGCTTTGCTGTTCAGGATGATGGTT TTTCATACCACACTTGTATTTTGATTGATGAATCACAAGTACGTTGGGAG GCAGGGTACCTTCAACTTTTCTGACGTTGAACTCAGGCTTCGTTTTGTTT TGCTCTTGGGGGAATTTCCAGTGGTCTAAGGTGCTTTCCTGAGTGGCTCT TTCCACCAAGTGCTCGTCCAACTCGGGTACCTGGAGGCAAGGGTGGTCTC TCTTGAGCTCTCCTTGCGTTGCTGGCCTGTCTGTGTCTTCAGCACCAAGG GCTCTTGGTTCCCTGCCTCTTGACACACTCTCACTGTGTCTTTCCCATTC ACTCTTCTGGATGTAAAAGAGGACATAGGCCTGTTGACTCAGGACAGAGG TGATGCCAGAGGCAGTGACCTCGGCATCATCCATTTTATACCACTGGCCT TCTTGAGCTTTGACATAAGAGAAGTAATGTCCGTTGTGACAACTCCACCC AGCGTGGACCAGCACAGCATAGAGGACATAGACAAGAGGTCCTGTGTTCT GCTGAGACATGTATGGCTGCATGTCACGGCACTTAGGATATTGCACATTC TTGGCAAGTTTGTTGCCTGTGACATCGGAGAATCTCTTCAATACAAGAAT GAGGACCTTGGCAGAAGTGGGTAAAGTTAACGTCTTGGAGGCAGGCGCCT TCTGGAGACAAAGACCACAATGATAGGCATTCTCTCCATTGAGTTCTTTG GGCTTCACCAACTGTTCCAAAGCTTGCTTGACACTCTGAGCTGCCTGGAT ATCCAGGGCGATGTCCAGGTAAGGGTCAAAGGTGTCTGAAACGCCGTGGC AGTGGAGATACTTGATTTGAGATCTCCAATACGCTCCAAATATTTGGTGG ATGAGGGTGGTGTCCTTGGAGTGATGATCTAGCTGCTTGTGCCCGGGAAG GCATGCCTTTTTCATGGCATCCACAGTAAACATGAGAAATTCATGGGCAT CCTCCTGCTCACCTCTATGGAAGCCAGCAGCCAATACCTGTGAGGGCTGG ATGACATGGCCAGGACTGTGGAGGGCCCATGTGATGTGAGCTTGCATAGT ACAGAACATGCAGCACTTGTGAAGATGACACGTTTGAGAGTCCTCCCGGG ACAGCATGTAGTTGGAAAGCGGCAGTGTGTATGTCAGGCACTGCAGGGAA ACGTTCACATAGAAGGTATTTCCTATCTTCTGGAGCCCAGCCCCCACCGC AGCAGGTCTCCTGCTACTCAGAGGAAGCTTCTCCCTGGGAGCAAGCTGTC TTGCCACAGGAGCCAAATCATCACAGAGGTCGAAACGGGTCTCAGATGAG AGTGGTGACTTTTCAGAGAGAGAAGTCCGCTGGATTTCAGCAAAAGCTGC ATCTAGCCGAGAAGATGTGAGTTTTGAAAAGTGATTGAACTGCCAGTCAC CTCCCAAATAGAGTGAGTCGTCTTCCATGTCGCCCGCAACAAGGATCACA AGGTTTTTCTGCTGGGACCGCAGGTTGCAGCAAGACGCTATCTCTTCCGA GAGAGTCTTCAAATGACCAGCTCTCTGGCCGCATCAGCCCTTATATAACT CACCCCCTCCAACCGCGAACACCCCACCCACCCATCAGGTGTGCGATAAA CCAATCAAATATCAGCACTCAATTAAGGAATGAGTCACAGGGTGTGTCCC CTTGCATCGCTGGGAATTCAACAGACACAGCCCACATCATGACTTCTAGA ACACCTGAATCAAATTACTCCTCAGGCTGATAGACACATGTAATATGAGT GTAACCGGGTTGGGACAGTGGCCACACAGTTGCCTTATTTTAGGTAAAAG AATGTCAGGGAAGAAATCTTTACCTATGAAACCGTGTGTGTGTCTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTG TGTGTGTGCTTGTGCTGGGATGAACTTCCAAGTATGTACTTTTGGCAGCT ACCATCATCCTCTCAGCGATGGAAGCACAAGAAGTCTGAAGTGCACTTTC TGACCTGAGAATAGTCAATGAAGTATAGTATTTAGCACAGCGTATATTTT TCCTTAATAATAAAGGAGAGATCCGTGGAATCAAACAGACCTTCCAGCGA TAACCTTTCCACGTTCAGACTATTGATTCTCTATCCGAGTGAAATTACCT GCCAGTGGAGAACAAGACAAGTCTTTGCATGAAATACTCTTGTGGAAGCT AGGCTGCCAAATAAAGCATCAAATGGTAGAAACATGCACTGAAGTTTGAA GAGTTACTCAGTGCACAAAGTAGACTGTGAAAGACTTTGGGGAAATCATG CAATCACCGAGAGACTAATTGATGACTTTCCCCAAATTTATGTGTGCCAG AAAAGAGAGATGGTCCTGACATTGTATAGTGAGTGGTTTCGGACGTGCGG CGGCAGTTTAAGAAAACATGAAACAAAAACCTTGAGAAATCCAAAGGTAT CCCAACTATAAGCTTTTGTTTATTAAAGAACTGATGAAAATCAAAACAAC ATATCTCACAGCATGGGTGATACTGTTTCCATACGTATGTGATAATGGCT CAACATTTCATAGAGATGAAATAAAAAGTTCTAATTTTGACAAAAGCAAA CAAGGAAAATTATACCGTAGAAAAGCCCGGGTGACGGGAGTGAGGCCCTG TCTGAAGAAGAAAACATCGGAGACGTTTAAAAGCAGGGAGTGAAACAGAA GATAGCATAACCTTTTTAATGCTGGCCCTTGTTTCACAGGGAAAAGGCAA AAATGCAAAAATAAGCCGTGTGTCTCCTGGATTCTCTCATCGATTGTTCA TGGTCTGAGATGTTCCCTCCATTTCCAGTTATGCATTGTATGGTGGAATT GCAGTTAGTACATTTGGTGCAAAAATTGTAATGCTGACGAAAGTGGACAT GTTCCCTGAACTAAGAGGGACAGCATTTGGGTGTGTCTTCAGGCTCTCTG GCTTACCAGGAATGAAGATCCTGGCTCTAGGGATTTTCCCAAAATGTCTT AGACAGTAAGGAACAGGGCAGAATTGAGGCCCGGCGCCAAGGCCTCTGGG TGTAAAGAAACAGCCCTGGCTTCAAGGGCTCATGAAATTCGGATGATTTT AAGGAGGATGATGGAATGAGAGGACTGTGACCTTTGGCCCCGTTTCTTTC CCTTGTCTTTTCATGGGCCAGGTGTGCTCCATCAGAAGGCTTCGTGCGCC TGATGTAAAGTGTCCTGGGGGAAGAAAGGAGCACTGCTTAGAAAGATGCT CCACAGGGAGAAAGAAGCCACCATTTTCAGGAGAATGATCCCCAGAAGCA TGAGCAATGCAGATGTCGTGGCTTCACACAAGACGTCGGAGGGTCTTATT CCTGCAGCCGGGACCTGGGCATCGGTGTGCTTTCATGTTCCTAACTGATT TTGAGGGGAGCCCAATCGATAACCTGTCTGCGAGTCATGCTCATCACACT GTAGTTTTCACACACGTCACACGGAGACCCTGTTCGTATGCACATTTGGG TGCTTGAGCAGGGTTGCGCCCAAGATTCTGTGGTTCTACGGAGCCCTGAG TGGTGCCCTGGGCAGCTTTCCTCTGGGGTTGGTCAACTTTGATCACTGCA CCTAACGAGAAAGGGACCATGAAATCTAATCAGCAAATACAGACAAGCAA GGGGCCATTTCCCACAATCATTTCCACGGAAACACCACGTCGGATACGTA AGTCTGATTGCAGGACAGGGACTGTGCTTCAGAGATGCAGCTTTCGCAGC TGGACGAATGACCCGGAATCTCCCCAAATGCCATTTGTAAGCACACCAAA TGAGGTTTATTTCAGGGCTTTCTGAATTTATTTCAGTTGAATACACACAC TCCTGTGTTTGATTTCCTTTATTATCAATACGACTTATTTCCAAATGACT GACATGCCAGTGGGAAAATTTTCCATTTCGACTCATTGGAATTGGACATC GTGAAACAGGCAAGTCGGTCTGTCTGTTTCCGGCGTTATGTGGGTTCCAG CAAGAGCACAAGTCCCAGGGCGCCTGAGGTCCATTCAGAAACCAATGTAA AAACGGTGAGCCAGGGTAAGAAAGAAGAGCACCGTTCCTATCTTCTAAAT GCATTCCAGTTTCCACTATTCAAGGTGGCGAGAATGATCCATGGATGTGC CACATGAGCAAAATTTCACCTTCTCGTGCCGCCCAACAACTGACGAATGA AACACACCCCAAGAGAAAATAGGAAACCGAGTCCCCTGCAATAACCTCAC ACTCAAACCTACACGTCAGTAGGTCATATTCAGAAATACACAGTGAATGT CATCTACCATGAACACAAACACACAGACAGTCTCTCCAGAGGTTCGGAAG ACTCACGACCCCAAAACTTGATGTTTCCCATGTGTGGGCTCATCCTGAGA TGCAGCCATCACTATCCAGTTGTCCCTGTTGTAGAGACAGAAACTTGGAC TCCTCATTACTTTATGTAGGATTGACGGTGTTCGTGTTTGTGTGTGTGTG TGTGTTTGCGTGCGCGCTTGTGGGTGTATTTGTGCGTGTGTGTGTGTGCG TTCACCCCTACGTGTGGGTCGGCACTTCCACTGAGATCACTGGCACACAA GCAGAGCCCTCTTGCTGTGTTTGTTCTTCCCTTTGGATCTCCTGGTCCTC CCTTGCAGAGAAGCGAGGGTGCCAGTGTTCACGGACTCCTGATCTGTCCG GG	T T	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18981.hp2 NA18981.hp2	a0027 a0027	a0027c0014 a0027c0014	a0027c0014t0000 a0027c0014t0000	a0027c0014t0000g0000 a0027c0014t0000g0000	1	194	0.0052	-4751	c.-32 others(10): Show c.-3274_1477del	p.Met others(3): Show p.Met1fs	USP17L7	ENSG00000226430.7	transcript	ENST00000530447.5	protein_coding	1/1	1567/1683	1/1593	1/530			chr8	TogoVar
RC3H1_chr1_173926084_174027357	173994208	ATGGTGAA others(4743): Show ATGGTGAAACCCCGTCTCTACCAAAAATATAAAAAATTAGCCAGGTGTGG TGGTGCATGGCTGTAATCCCAGGAACTCGGGAAGCTGAGTAAGGAGAATT GCTTGAACCCAGGAGGTGGAGGTTGCGGTGAGCCGAGATCCGCCACTGTA CTCCTGCCTGGGCGACACAGTGAGACTCCATCTCAAAACAAACAAACAAA CAAAACTTTTGACAACATAAGAATATTTTAAAAGTAGAAACAATTTATAT AAACATATGTTTCCTCTGTATTTATACCACAATCTTGACAGACTCATACA AATTTTTCAGGCTGGGTGTGATGGCTCATGCCTATAATTCCAGCACTTTC AGAGGCTGAGATGGGAAGACTGCTTGAGCCCAGGAGTTTGAGACCAGCCT AGGTAACATAGGGAGACCCTGTCTCTACAAAAATTAGCCAGGCGTGGTGG CATGCACCTGTGGTCCCAGCAACCCAGGAAGCTAAGGGCTAAGGTAGGAG GATCGCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTACGAACATGTGA CTGCACTCCAGCCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAA AAAAAAAGAAAAAAGAAACCTTATTCCATTCCCAGGAAAAATTTAATTTA GTTAAATGACAAAAAAATGTTTTATTGGTCTTTACTATGTGTTCAGTACT AACGATAAAAAAAAGATAAGTCATTCTAAGTCCACATGGAGCTTGCACTG TTTCTTTCACTAAACATATAAACAGCAATCACATAACTAAATATATAATT GCAAGTTATGGTAAGTGATATGTAGGTAAAGTACAGGGAGATACAAGCAT ATATAACAGAGGCAACCTGACCAAATTAGGGTGGAGCTGATGTACAGGTA AGTGATATTTATGGTAAGATTTTAAAGATGACTGCTGAACGAAAGTTAAG GGAAGAATAATGTTTAATATGTGTGGTATAGATTCTAGGTAAAGAAACAG CATAACCATAGATTCTGAGACTAGATAGAATATAGTAGAGATGAGGCCAG GCATGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGACGAGACAGG TGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAA ACCCCGTCTCTACTAAAAACACAAAATTAGCCAGGCATGGGGGCACAATG CATGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACC TGGGAGGCAGAACTTGAAGTGAGCCAAGATTGTGCCACTGCATTCCAGCC TGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAAAGAA AAAAAGAATTAGCAAGGACCAAAGAACACAGGATCTTCTAACTTATATGA TGGTATTTGGTTACTATATGAAGAGTAGTGTAAAGCCACTGAAGGGGCAG GAGGTGACTCACTTTATTGTTTTCAATGTTCTCCTGTGATATTATTCTCA CCAATCACACACAGTCCACTATGATCTCCTTCAAGGCTCAACTAGGAAGA GTAACAACTATATGTCTTTTCTCACTCTTGGGCCCTAAAGCACTCATATG CTGCTACACCAGCATGATGCTTACTTTAAGAAAACCTGATATGTAAAAAT ATGGAAAACAGATTGATTACAGTGATTGTCCATATTACAGAAAGATAATA AACTTTACCAAGGTATTTATAATAAGATTTAAAAGACCAGAAATCGATGC AATTGAAAAAATTGGGCTGGGTGTGGCGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGTCGAGTTGGGCAAATCACCTGAGGTCAGGAGTTTGAGACC AGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAATTACAAAAATTA GCCAGGTGTGGTGATGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGTTGGACTGCTTGAACCCGGGAGGGGGAGGTTGCAGTGAGCCGAAAT CACGCCGTTGCACTCTAGATAAACAGAGACATACCAGTGCTATGAAAATG TATGGAAAGAGACTCAAAATACATTAAGTAAAAAAAAAAGCCTTGAAGAC CAATATATATGACATCATTTGTGCTGAGGGAAAAGAACCCTTACATATTA GTCTACGTATTAATATATGTAAATGAATGGAAGAAAAAGGTCTGAAAAGA CACTCAACAAGCTGTAAGCAGACAGCAAGGTCTTCATGGACTATAGGAAT TAATCAACTTGAACAATCAGCCTGTTTTATAGCCTCCTGCCTTGCAGCCT ATTTTTGCCTAAACCCTGTGTAGAATGCAGTCACCTAGACAGCTGGAACC AGTTCCTCACAGACCCTGGCCACTCACAGATAAACCTGAGTGAACTTTCC TCGTTACCATGCTAAAGTCTCCATCCTGGGAGAAGCTATAGCTTCACTAC CATAGCATGTGACCTACGTCCGGGCATAAAGACTCACTATATGTGCACCA CTGGGACCCCTCCTCTACATGCAGTGACATACCCTCTCTTCCCTCTCCAT CGCCCCATAAAACCCTCCTCTCACTTTCCCTCAGAGACCCACTGCTTTGG AGAATACTCCCAGTGCTCTCCTTACTTGTGACAAGTAATAAAACTTCCAT TGATCAAAATCTGTGTTCTTGTGGAGTCATTTTTTACTTGAAAGGCAAAG GAATTCTGTTTTTTTTTTGGGTAACAAAACTTAACGGCACTGCCAGGCAT GGTGGTTCACGCCTGTAACCCCAGCACTCTGGGAGGTGGAGACAGGTGGA TCTCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAATCAAGTGAGACCC CGTCTCTACAGAAATATAAAAAATTTAGCTGGACATGGGCACCTGTAGTC CCAGCTATATGGGAGGCTGAGGCAAGAGGATTGCCTGAGCCCAGGAGGTC GGAGCTGTAGTGAGTCATGTTTGCTCCACTGCACTCCAGCCTGGGCAACG GAGCGAGACCTGTCTAAAACAAAACAAGACAAAAAAACTTAATGGCAGTT ACACAGTTGGGCAACTTACAAAAGTATGTAATCATGAATTACTTATATAA GTACAAATAAATTGAAAGAGTAACACAAAGCTAGAGTACACTTAGAGTAC AATTTAAGCTTCTTAAGATAATCACTCTAAAACGATTCAAAACATTTGTC CTAATATTATTAATCTTCTTTTACACATTTAGATAGCCAAATATCAAAAC TTATTAGTTCTTTTCAAAATTTAAGAACCTTAAAATAGTTTGTAACTTAT CCCTTCAAAGAATTAGCATTCCTTTATTAATTTTGTTTATCACCTCCATC TCTATTAACTTTGTAAAGTAAGGTATGTAGTTGTTAATCTCTTAAATTTT CTAGTAAAATAGTTCTTTGACACAACTATAAACAACTTGATAGAATAAAA ATACAAAAATCAGCAATCAGTTCTTCATTAAAAATAAAAGCATTATTTTG ACCATAAATACAGGTTTGAGAGACCAAGGGGAAAATAATATTAAACCTTG ACTTTTTCTGGGAAATTTGATGATTAATAACAGAAAGTCACTCTTAGATG ACCCTATTTCAGGACTTAAAAAATCACAAGGCAAAGATTTTTTTGAGACT CAAAGTGTCAGTTAATTGTAGATCATAGATCTAAGAAGAATTTCCATTTC CTCATTCTTTAAGTATCTTTCTCTAAACGCATTCTTCCAAACATTCTCCA AGCTTCTCAAAGACAGTTTATATACTCTTCAACCACAACATGTATCTAAA CCACAAAAGACATGATTTACTAAATACAATAAGCATTCTTTCAGTCAAAA GTAAACATATGAAATAAAATTATTAATATACCAACATCCAGATTTTTTGA ACTTCCTCAGAAAAAGGTATGTCAGCAAACTAAAAAAGGGCCACAAAACA AAAACAGCTGTAAATAATTCTACTAATCAAAGCACATGCATTCAAGGCCT GCAGATAAACTGTTGGGGGTCAGGCCAAATCTAGTTCATTAGGAGTATTT CTATTGGAACCTTCCAATTGAAACAGAAGACAAATGATGAGCCCTCTTTA TTTCCAAAAAGATTCAAAAGAGTGACACTGCTGCTCAAGTATGAAAGCAA TGATTAGTTTCCCCACCAGTTTAAATAAGGACACCTCTCCTACAAAAATG ACGAGATTTTACTGTTGATAATTGCTAATACAGAATATACATGATAATTA AATAGCAATCAGTTCAAGGGTCTGACCTAAGACCCAAGTTCAAAAATACC ATATAATTTCCCCAATTATATATACACATTTTTACACCACTAAAGAGTGC TCACAGAAAACACTGAAAAGACTGCTTTATTCAGTTATATGCCTTGTTCA TGGCATTGACTGAAGCTACAGTACAGAATATCACATCTGACATTTCACTA TTAATTTATCCCAATGTCTAAATTCTGGTTAAGAACCACCACTTTCTTAA ATCTCTAAACTTTTATCACTAATATTACCATTTGACTTTACTCAGGTTTT TTTTCTTAACAAAGAAATAAAGATCTTATTATCAAAATAAAAAAATTATT TCAGCTAGGTGCTGTGGTTCACGCCTGCAATCTCAGCACTTTTGGGTGGC TGAGGTGGGAGGATCACTTGAGACCAGGAGTTTGAGATCAACCTGGCCAA AAAGGCAAGACCTTGTCTCTATAAGCAAAATAAAAAATGAGCAGAGTGTG G	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG02965.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0078 a0001c0007t0030g0079 a0001c0007t0030g0078 a0001c0007t0030g0079	2	310	0.0065	-4750	c.-15 others(19): Show c.-150-5823_-150-1074del		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19						chr1	TogoVar
DNAAF4_chr15_55425308_55513234	55455535	GATTCTCC others(4741): Show GATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCGCATGCCA CCACACCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCGCCATG TTGCCCAGGGTGGTCTGGAACTCCTAACCTCAGGTGATCTGCCCACCTCG GCCTCCCAAAGTACTGGGATTATAGGCGTTAGCCACCATGCCCAGGCTCT AAATGACTTTTCAATATGCCAAGCCTCACTGTTAAAGTTGTAAAGACATA TGACCTGGTGGAAATAGCACAGGTTTCAGATGCAGACCAGATCTGGGTTC AAATCCCACAAGTTTACTTATTCATAGTTATTTTTTTTTTCTGAACATCT ATTTCCTCTAAAATAAGAATAGCAGCACTTAGACTGAAGTGTTGTGAAGA CTGAGTGACCCAAGCAATAAAATCCCCTGGCACATAGTAGTCACCTAATA AATGTTAATTATTATTATTATATATGTGATTTTACACTAAAATGTTAAAT TTATAGGAATTCAATAATGACTTATGTAAGGAAAATACTAAATATTTCTT TTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGC AATGGCAAGATCTCGCTTCACTGCAACCTCCACCTCCCTGGGTTCAAGCG ATTCTCCTGCCTCAGTGCCTCCCGAGTAGCTGGGATTACAGGCACCCACC ACCACGTCCGGCTAGTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATG TTGGTCAGGCTAGTCTTGAACACCCGACTTCAGGTGATCTGCCCGCCTCA GCCTCTCAAAGTTCTGGGATTACAGGCGTGAGCCACTGCATCCGGCGGAA AATGCATCCAAAACAAAGTTTAATATTCTAAAATTAGATAAAACCAAACT CGTAGCTTTCAGTATAGAATTATATTCATTGGGAGATAGGAGGGAAAATG GCAGATCGGAGACAGGATTAACATGCAGCTGCCACCTGGATGGACAGAAC AGCATCTGGAGACTCACAATGCGAACTTTTACTCCAAGAATCACTTCAGG AACACCGCAAGAAACACTGTAGGAAAACTGAAAGAATTCACAGACCCTTT GAAAGAAGTGGTTCGCTGCTGCAAATGCCATGAAACAGCTGAAAAACCGT GAGTTCCCAAAGTGTGAGGGAAGAAAAGGTCAGTCTCTGAACATACATCC CCACTGGGGAACCTGAAAATCCAGATCACAGGGGAAGGATTTAACTTTAC CCTGAGCTGAAATAGATTTAGGTAGCTGAGCAAAATATGAAAGTAGAAGA AGCAGCAGGAAGAGCCCTATAGGTACTTCCATCCCCAGCTGGAGTCCAAG GAAGCCATTCCTGGCGTGATCTCACAGAGGTCCTTGGAGACGGGAAGGCA GCCAGTGGAATTGGGGCAGGACCACAGGGTGAAGGAAGCTTGTAGCTGAA CTTTGTAATAATTTTGACTGAGCAGGAATTTTCCTAAGCAGAAATTGGTG GCAGAGGGGGCAAATGGGAAGTACAGATGCGAGTGCAGAAGCCACAGCCA ATAGTGTGGGCAGGCAGGGACTGGTGAGGCCTAACAGCCCTCTTGCTTTC TCAGTGGCAAGGCTTATAGTCTGGGGCAAGATCTCAGCCCTGCTCACCAA CTGCCTGGATATAAACGCAGTGCGGTTGGGGTGGCATGGCCAGAGTGAGA CTGGCCTTGGTGGCTGCCTGGGAGCTAGGTGAGGCCTGTCACTGCCAGCT TTCCCCCACCTCCCTGGTGACCTGTATAGCACAGCAGAGGCAGCCATAAT GCCCCTGGGAACATAATTCCATTGGCCTGAGAATCCCCTCCACCCCCACT GTGGCCACAGCAAGCCCCACCCAAGGGGAGCCTGAGCCCAGACCCAACTA ACCTTGCCCCCACCTGATGGGGCAAGGTTTTCTCTACCTGCTCTATGGCC CTGCCCATCACCTGAGAAACCCGAGTACTTGTCCCGGCCAACATCAAGAT TATATCTCTCTTCTATACTGCAGCTGGTGCCCTCTTGAAAGTGCCACCTC CTGGCTGGAGCCCAACGAACTCAAGCCACCATAGCAACTCATAACAGAAC AACCCTGCTCCAAAGAAGGAGAAAACAACAGCTAATTCCACTTCCTGCAA CACCCTGTCTAGCCAGAGGTCCTGAATCTGTCCACGTGACAACTTCACTG CTTACATAACCAGTACTTGAAGTGCACTAAACAAAATTACAACAAAAGAC TCCAACAGAATCCACTTCACTCACCTGCCACCACCAGAACAGGTGCTGGT ATCCACGGCTGGGAGACCTGTGGATCACATCACAGGGCTCTTTGCAGACA TTCCCCAGCACCAGCCTGGGGCCCAACTGGGTGGCTAGAAATAGAAGGGC AATAACAATCACTGCAGTCTGGCTCTCAGGAAGCCCCATCCCTAGTGGCA GGGGGAGGGCACCACATCAAGGGAACACCCATGGGACAGAAGAATCTGAA CAGTAGCCCTTGAGTTCCAGATCTTACCACTGAAACAGTCTACTCAAATG AGAAGGAACCAGAAAAGTAATTCTAGTAATATGACAATACAAGGTTCTGT AACACCCCCAAAAGATCATACTAGCTCTCCAGCAATGGATCCAAACTAAG AAGAAATCTGTGAATTGCCAGATAAATAATTCAGAAGGTTGATTATTAAG CTCCTCAAGAAGGCACTAGAGGAAGGTGAAAATCAACTTAAAGAAATTTT TAAAAAAAGGAGGATATGAATGGAAAAGTCTCCAGAGAAATAGATATTAT AAAGAAAAAATAATCAAAACTTCTGGAAATGAAAGACACACTTAAAGAAA TGCAAAATACACTGGAAAGTTTCAACAATAGATTTGAACAAGTAGAAGAA ATAACTTCAGAGATCAAAGACAAGGCTTTCAAACGAACCCAATCCAACAA AGACAAAGAAAAAAAGAATTTTAAAAAATGAACAAAGCCTCCAAGAAATC TGAGATTATGTAAACAAGCAAACATAAGAATAATTGGTGCTCCTGAGGAA GAAGGGAAATCTAAAAGTTTGGAAAACATACTTGAGGGAATAATCAAGAA AAACTTCCATGGTCTTGCTAGAGATCTAGACATCCAAATACAAGAAGCTC AAAGAACACCCGGGGAATTCATTGCAAAAAGATCATTGCCTAGGCACATA GTCATCACATTGTCTAAAGTAAAGATGAAAGAAAGAATCTTAAGAGCTGT GAGGCAAGGTCAGGCACAGTGGCCCACATCTGTAATCTCAGCACTTTGGG AGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCC AACCAAGATGGTGAAACACCATCTCTACTAAAAATACAAAAATCAGCCAG GCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGG AGAATTGCTTGAACCCGGGAGTTGGAGGTTGCAGTGAGCCGAGATCACGC TACTGCACTCTAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAA AAAAAAAAGAGCTGTGAGGCAAAAGCACCAGGTAATCTATAAAGGAGAAC CTATCAGATTAACAGCAGATTTCTTAGCAGAAGCCCTGCAAGCCAGAAGG GATGGGGGTCCTATCTTTAGCCTCCTTAAACAAAATAATTATCCGCTAAG AGTTTTGTATCCAGTGAAACTAAGCTTCATAACCAGAGGCGAGATAAAGT CTTTTTCAAACAAACAAATGCTGAATTTGTCACTACCATGCCAGCACTAC AATAAATGCTAAAAGGAGTTCTAAATATTGAAACAAAACCTCAAAATATA CCAAAATAGAACCTCCTTAAAACATAAATCTCATAGGATCTATAAAACAA TAACACAATGAAAAAAAATAAGGTACAGCAACAACTAGCATGATGAATAG AACAGTACCTCACATCTCAATACTGATATTGAATGTAAATGGCCTAAATG CTCCACTTAAAAGATACAGAATGTCAAATGGATAAAAATCAACCAACCAA GTAAGTCTTTTAACAGACTTGCCTAACATATAAGGACTCATAAACAGGGT GGAAAAAGATATTCCATGCAAATGAACACCAAAGTCAGCAGGAGTAGCTA TTCTTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTGAGACAGAGTCTC CTTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAA CCTCTGCCTCCTGGGGTCAAGCGATTCTCCTGCCTTAGCTTTCCAAGTAG CTGGGACTACAGGCACGCGCCACCACGCCTGGCTAATTTTTGTATTTTTA GTAGAGACAGAGTTTCACCATGTTGGCCTGGCTGGTCTCAAACTCCTGAC CTCGTAATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACTGCGCCTAGCCAGGAATAGCTATTCTTATACAAAACAAAGCAGA CTTTAAAGCAACAACAGTTAAAAAAGATAAAAAAGGACATTATATAATGA TAAAAGAATTAGTCCAACAGGAAAATATCACAATCCTAAATATTTATGCA CCTAACACTAGAACTCTCAAATTTATTTATTTATTTATTTACTTATTTAT TTATTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTG CCGTGGTGCAGTCTCGGCTCACTGCAACCTCCACCTCCAGATTCATGCA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	338	0.0030	-4748	c.637 others(17): Show c.637+6647_638-5169del		DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	5/9						chr15	TogoVar
ZNF675_chr19_23647801_23692212	23673828	TAAAGTAT others(4741): Show TAAAGTATAATTTAAAAAATAATAATAATAGAAGAAAAAATTTTATCCGG CCCCAGAGAAACTCCACAATGATAGAACATTAAGAAAACTGTTGGCCGGG AACAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGTTGAGGTGGGT GGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGACCAACATGGTGAAA CACTGTCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGTGGGCAC CTGTAATTCCACCTACTCAGGAGGCTGAGGCAGAAGAATTGTTTGAACCC GGGAGGCAGAGGTTGCAGTGAGCCGAGATCAAGCCATTGCACTCCAGCCT AGGCGAAAAGAGCAAAACTCTATCTCACAAATAAAATAAAATAAAACAAA AATAAAAATAAAATCCTGAGTCACAAAGAATGCCAAAAAGTTTATTTACC TGTTAATATGATACACATTTATTTTTAAAAAGCAGAGAAAAATATCTACA TATAACCTAAATGCTTAAAGAAGTGAGAGATGGGCAGGCCACAGGGGCTC AACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTG AGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGGGAAACCACATCTCT ACTAAAAGCACAAAAATTAGCCGGGCATGGTGGCGGGCATCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGACGGA GGTTGCAGTGAGCCTGGTCGACAGAACGAGACTCCGTCTCAAAAAAAAAA AAGGAGAGAGATAAGCAAAATATTCTTTATTATTTTCAGGTATAAAAACA GAGCCTTTTGGTTGGGTGCAGTGGCTCACACCTGTAATCCCACCACTTTG AGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCT GACCAACATGGTGAAACTCTGTCTCTACTAAAAATATAAAAATTATTAGC TGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGC ACGAGAATCACTTGAACCCGGGAGGCAGAGGTTGTAGTGGGCCAAGATCA TGCCAGTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAA AAAAAAAAGAGAGAGAGAGAGCCTTTTATTTCTAACTTAAATTTTCTCTT ACAACAGCCAGGTCTCTGGATATGTTGAACTCTTCGACATCTTAATTTTA GTAGACACTGGATTCAGGCATCTAAGGAGTAGCATTGGGCACACAGTATT CACTTGAAAGAATGTTTATGGGGAAAAAAGCAGAAGAGAAAAAGGTGCTA TAAAAAATCCATGGGTCCACATAAATAAAGCAACTTCTTAGAGACCTATG AAGACAGTTGGATTCTTACACAAAAATAGTGGGAGGCTACAATACACCAC AGACACTAGTAAACAAATCACTGAGGCAGAAAAATTAACAAAGATATTAG GACCTAAACTCAACACTTGACCAAATAGTAATAAAATATCTATAGAACTC TCCATCTAAAAACAACATAATATACAATGTTTTCACCACCACAGGGCACA TACTCTAAAACTGACCACAAAATCAGAAATAAAACAATCCTGAGCAAATT CAAAAATTTCAAAATTGTATCAACAACATACTCAGACCACAGCTTGATAA AAATATAATTCAATACAAAGAAAACCACTTGAAACCAGACAACTACATGC AAATTAACCTCAATATGAATGACTTTTGGGTAAATAATAAAATTAAGGCA GAAATCAAGTTCTTTAAAATAAATGAGAACAAAGACACAACATACCAGAA TCACTGCAACAAAACTAAGGCAGTATTAAGAGGGAAATTTATAGCATTAA ATGCTCACATCAAAAGGTAGAAATATCTCAATTTAATAACCTGACATCCT AAATAAAAGAATGAGAGAAGTGAGAGCAAATCAACCCCTAAGGTAGAAGA AAACAACAAATAACTAAAATCATATCTGAACTGAAGAATATTTAGATGAT GTAAAAAACTACAAAAAAGACTAAAAAATTAGAAGTAAATGTTTTGAAAA AACTCAGTAAGATAAATAAACCACTAGCTAGATTAATGAAAAAAAGAGAA GATCCAAAAAAAAAAAAAACACAATTAGTAATGACAAATGGACATTATCA CTGATTTGGCAAAAATACAAACAAGGATGAAAGTCTACAATGAGCACTTC TATGCACAGTAACTAAATAATCTAGAAGAAATGAATAAATTCCTGGACAA ATACCTCCTCCCTAGACTGAACAAAAAAGAAATTGAACCCCTGAATAAAC CAATAAAAAGCTCCAAAATCAAATTAATAATAAGTAGCCTACCAACCAAA AAAAGCCCAGGACCAGACGGACTTACAGCTGAATTCTACCAGATGTACAA ACAAAAGTTGGTATTATTTTTACTAAAACTATTCCAAATAATTGAGAAAG GACTTCTCCCCAAGTTATTATATAAGAACAGCATCATTCTGATACCAAAA CCTGGCAAAGACAAAACAAACACACAAACAAAAAACTTCAGGCCAATATT TTTAATAAATATTAACAAAAAATCATCAACAAAATACTGAAAAACCAAAT CCAGCAGCACATCAAAAAGTTAATCCACCATTATCAAGTAGGATTTATCC CTGGAACACAAGGTTGGTTCAATATATACAAATCAATAAATGTCATTTAT CACTTAAACAGAACTACAGACAAAAACCACAAAATTAACTCAATAGATGC AGAAAAAGCTTTCAGTAAAATTTAACATCCTTCATGTTATAACCCTCAAC AAACTAGGCATTGAAGGTACATACTTCAAAAGAGTTATCTACGACAAATT CACAGCCAACATACTGAATAGATACAAGTTGCAAACATTTTTTTTCTTGA AAACTGGCACAAGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATGGAGACCA TCCTGGCTAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTA GCCACGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAAGAGAATGGCGGCGTTAACCCGGGAGGTGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCATCCCAGCCTGGGCAACAGTGCAAGACTGTCTCAGA AAAAAAAAAAAAAGAGAAAAGAAAAAAAAGAAAAAGAAAACTGGCACAAG ACAAGGGTGCCTTCTCTCACCACTCCTATTAAACATGGAATTTTGAAGTC CTGGCTGAGCAATCAGGCAAGCCGAAACAATAAAAGCACCCAAAAAGAAA GAGGAACTCAAACTATCCCGGGTGCAGATGACATGACTCTACATCTAAAA AAAACCTATAGTCTCAGCAGAAAAGTTCTGTAAGCTGACAAACAACTTCA GCAAAGTTTCAGAATACAAAATAAACATACAAAATTAGTAGCATCTCTGT ACATCAACCATATCCAAAGCAAAGGCCAAATTAATAATACAATCCTAGCT GGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGAGG GGCAGATCACCTGAGGTCGGGAGTTGGAGACAAGCCTGGCCAACATGGGG AAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCA TGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGTGGAGATTGCAGTGAGCCAAAATCACACCACTTGCACTCCA GCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA ATCCCATTTGCAGTTGCCACAAAAACGAATATCTAGAAATACAGCTAACT AGGGAGATGAAAGATCTCTAGGACAAGAATTACAAAACACTTCTTAAAGA AGTCAGAGATGGCCGGCTACAGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACTAGCC TGACCAACATAGAGAAACCCCATCTCTGCCTAAAAATACAAAATTAGCAC GGGGTGGTGGTGCATGCCTGCAATCCCAGCTACTCGCGAGTCTGAGGCAG ATGAATCACTTGAACCCCAGAGGCGGGAGGCTGCAGTGAACCAAGATCGT GCCATTGCACTCCAGCCTGGGCAACAAGAGTAAAACTGTCTTGGGGGGAA AAAAAGTCAGAGATGACGCAAACAAATGGAAAATCATTTTGTGCTCATTG ATAGAAAAGTTCGGTATTAATATGGCCATACCACCAAAAGAAATTTACAG ATATGTTATTTCTATGAAACTATCAAAAATATTCTTTTTTTTTTTTTTTG ACGGAGTTTGGTTCTTGTCGCCTAGGCTGGAGTACTGTGGTGAGGTCTTG GATCACTGCAACCTCCACATCCTGGGTTCAAGGCTGCCTCAGCCACCCAA GTAGCCGGATTACAGGCATATGCCACCACACCAGGCTAATTTTTTGTATT TTTATTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACCCC TGACCTCGAGTGCTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACA GGTATGAGCCACCACACCTGGCCTCAAAAATATTCTTAACTTAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02630.hp2 others(1): Show HG02258.hp1 HG02615.hp1 HG02630.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0046 a0001c0001t0001g0241 a0001c0001t0001g0242	4	376	0.0106	-4748	c.3+8 others(14): Show c.3+8455_4-10671del		ZNF675	ENSG00000197372.10	transcript	ENST00000359788.9	protein_coding	1/3						chr19	TogoVar
NBPF19_chr1_149470045_149561361	149524200	CTGTGTGT others(4740): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCT ATCTGTCTTTCTCTTTCATTCTTTTCCATTTGGCCCTGTTCTGTCCCAAC ATGAAGGCAATAATTTGTTACCTCATTAATGGATCTATCCTTTTAGTTTC TTAACCACTTCCCTATGCTACCCATGAAACCTAGTTGGGGCTCTGTTGTG TGTGATTTCCCCTGGCTTATTCTTTACTTTTTCCTCCTTTTCCAGGCTCA GCAGGGAGCTGCTGGAGGTAGTAGAGCCTGAAGTCTTGCAGGACTCACTG GATAGATGTTATTCAACTCCTTCCAGTTGTCTTGAACAGCCTGACTCCTG CCAGCCCTATGGAAGTTCCTTTTATGCATTGGAGGAAAAACATGTTGGCT TTTCTCTTGACGTGGGAGGTGAGTACCTTTCTATGAAGGTGATAAGCATC CACTGAGTCTTCCATATAAAGATCATATTCCTGCTCCAAGTGGCCATTAC TGAGCTGAGAGATGTCATTGCCGCAGTGAGGACCTATAGGCACATGTAGG TTGAATGAAACTCTAGTTCTACCTGGAAGCCCAGACATGGGATGGGTCAG TGAGCATGGCTCTCTTCCTAGTCTCAGGCCATACCTGTGGCACTCTGATT CTACTCTCATGACATTGGACCTGGGCAGATGTGACAAATTCAGAGAACTA TGATTTTGACTCAAGGGTTTGCAGATTTCCTTTTTCACTCTAATTTCAGT GTCTAAAGTCCTCACAACCATGAACAATCTGAGTATTTGATGAGACAGGG CTAAATATTGCAGTTTTTCTCCCAGAAATCATTTGAGGGTATTTGCTTTA AATTGATTGGAAAAATATGGCATAACTGTTTGCACAAACTTGGGACAAAT GATATTGGGATAACGATCTACTAGAATAGGGACATTTTACCCACAGTTTC TGGGAGAAAAACCGAGGAATTTCTATCATGACCAGCCTTCAGGCCTCCTG AAATATATCTCTCACAGTGTCCTATTCTTATGCTGAGGAGCCTGAGGTCC CTGTGTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGGGAATCAGCTT AATGTGTCTGTCCATGTCTGAATTTATTGCAGAAATTGAAAAGAAGGGGA AGGGGAAGAAAAGAAGGGGAAGAAGATCAAAGAAGGAAAGAAGAAGGGGA AGAAAAGAAGGGGAAGAAGATCAAAACCCACCATGCCCCAGGTGACTTTC AGCAATTGTGGATGCTTAATTCTGTGTTAACACCTGGAGGCAACAGATTC AGGGAAACCAGAGTGTGTTTGATGTCATGTTTTCAACGAAGGCTGAATTA CTCCTACTGTCATTGCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTC CATTTCTTCCTCCCCTTATCATTTACTAACGTACCATAGGTTGACCATAC TTCAAAAGCTGTACTCTCATGGCCACTGCATCGAATTTTGAGCATATTTT ATGGAAAACTATTGAGCTCACTCTTTTCATGATCACAGTTTGCTGTGTGT CATGAGGGCACTAACTCAGAGTGTCCTTTTACTCCCTTACCAGTATGTCA CCTGGCCAATTCACTAGGTCACTTTCTCTCTGTCTCTGTCTCTGTCTCTC TCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTTTCTCTTTCATTGTTTT CTACCTGGCCCTGTTCTATCCCAACATAAAGGCAATAATTTGTTACCTCA TTAATGGATCTGTCCTTTTTCTTTTCAAACTCTTCCTTAACGTTAGCCAT GAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGGCTTATTCTTT ACTTTTTCCCACTTTTCCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGG GCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTCCTTCAG GTTGTCTTGAACTGACTGACTCATGCCAGCCCTACAGAAGTGCCTTTTAC ATATTGGAGCAACAGTGTGTTGGCTTGGCTGTTGACATGGATGGTGAGTA CCTTTCTATGAAGGTGATAAGGATCCACTGAGTCTTCTGGTTAGGGTCAT ATTCCTACTGCAAGTGGCCCTTACTGAGCTGAGAGATGTCATTGCCACAG GGAGGACCTATAGGCACATGTAGGTTGAATGAAACTCTAGTTCCACTTGG CAGCCCAGACAAGGGATGGGTCAGTGAGCAAGGCTCTCTCCCTAGTCTCA GGCCATGCCTGTGGCGCCCTAATCCTACTCTCATGACATTGGACCTGGGC AGATGTGACAAATTCACACAACTCTGATTTTGTCTCAATTTTGTAGATCT TGTAGATTTCATCCTTCACTCTAATTTCAGCGTCTAAAATCCTCGCTACC ATGAACAATCTGAGTATTTGATGAGACAGGGCTGAATAGTGCAGTTTTTC TCCTAGCAACCATTTGGGGGTATTTGCTTTAAATCGATTGGAAAAATATG GCATAACCATTTGCACAAACTTGGGACAAATGATATTGGGATAACGATCT ACCAGAATAGGGAATTTTACCCACAGTTTCTGGGACAAAAACCAAGGAAT CTCTATGGTGATCAGCCTTCAGGCCTCCTGAAGAATATCTCTCACAGTGT CCTATTCTCATGCTGAGGAGCCTGAAGTCCCTGTGTGAGGATTAGACAGT GGATTGTTATGTGTGTAGGAGAACCAGCTTCATATGTCTGTCCATGTCTG AACTTATTGCAGAAATTGAAAAGTACCAAGAAGTGGAAGAAGACCAAGAC CCATCATGCCCCAGGTAACTTTGAGCAATTATGGATGCTTAATTCTGTGT TGACACCTGGAGATGCCAGGTCCAGGGAAAACAAGAGTGTGTTCAATTTC ATGTTTTCAACGAAGGTTGAATTACTCCTACTGACATGGCTGTTGGTTTT CATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCCCTTAACATTTAC TAACTTACTATAGGTTGACCATACCTCAAAGGCTGTATGGCAACTGCATG GAATCTTGAGCAAGTTTATGGAAAATTATTGAGCCCACTCTTTTCATGAT CACTGTTCGCTGTGTGTCCCGAGGGCACTAACTCAGAGTGTCCTTTGACC CCTTCATCAGTGTGTCACCCGGCCAACTCGCTGAGCTCACTTTCTCCTCT CTCTCTCTCTCTCTCCCTCTCCCTGTCTTTCTCTTTCATTCTTTTCTACC TGGCCCTGGTCTATCCCAACATAAAGGCAATAATTCATTACCTCATTAAT GGATCTGTCCTTTTTCTTTTTAAACAGTTCCTTATGTTAGCCATGAAATC TAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGGCTTATTCTTTACTTTT TCCTACTTTTCCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGAGCCTGA AGTCTTGCAGGACTCACTGGATAGATGTTATTCGACTCCTTCAGGTTATC TTGAACTGCCTGACTTAGGCCAGCCCTACAGCAGTGCTGTTTACTCATTG GAGGAACAGTACCTTGGCTTGGCTCTTGACGTGGACAGTGAGTACCTTAC TATGAAGGTGATAAGCCTCCACCTGGTCTTCCAGATAGGGGTGATATTCC TGTTCCAAGTGGCCCTTACTGACCCGAGAGATGTCATTGCCGCAGGCAGG ACCTATGGGCGCATATAGGTTGTAATGAAACTGTAGTCTCAGTTGGAAGC CTAGACATGAAATGGGTCAGTGAGCAAGGCTCTATTCCTAGTCTCCAGCC ATGCCTGTGGCAACCTGAGCCCGCTCTCAGCACATTGGACCCAGGCAGAT GCAAAAAATTCACAGAACTATGATTTGGACTCAAGGGTTTGTGGATTTCC TCCTTCATTCTAATTTCAGTGTCTAAAATTCTTGCATCCATGAACGAGCT GGGCATTTGATGAGACAGGGCTGAATACTGCAGTTTTCCTCCTAGAAATC ATCTGGGGCATTTTCTTTGAACTGATGGGAACAATAAGGCATAACTGTTT GCACAAACTTGGGATAAGTGATTTTGGGATAACGATCTACCAGAATGGGG ATATTTCACCCTTGGTTCTGAGATGCAAACCAAAGAATATCATGACCAGC TTTCAGGCCTCCTGAAGTATATCTCTCACATTGTCCTGTTCTCATGCTGA GGAGCCTGAGATCCCTGTGTGGGGATTAGACAGTGGACTGTTATGGGTGT AGGTGAATTGGCTTATTTTGTCTGTCCCTGTCTGAATGTATTGCAGGAAT TAAAAAGGACCAAGAAGAGGAAGAAGACCAAGGCCCACCATGCCCCAGGT AACTGAGCAATTGTGAACAGCTACTTCTGTGTTGACATCTGGAGACTCCT GGTTCAGGGAAAACAGAGCGGGCTGACATTATCGATTACATCTTTTCAAG CAAGCCTGAATTATTCCTACTAACATTGCTGTTGGTTTTCATTGCAGTAG ATATTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAACCTACTGT ACGTGGACCAGACTTCAAAAACTGTATTCTCATGGCGACTGCGTGGAAAC TTGAGCACATTTTATGGAAAATTATTGAGCACAGTCTTTTCATGATCACT GTATGCTGTGTGTCCTGAGGGCACTAACTCAGAGTGTCCTGTTACTCCCT CATCAGTGTGTCACCTGGACAATTCACTGAGCTCGTTCTCTCTCTCTG	C C	exon_loss_variant exon_loss_variant	HIGH	HG02622.hp1 HG02622.hp1	a0133 a0133	a0133c0165 a0133c0165	a0133c0165t0022 a0133c0165t0022	a0133c0165t0022g0020 a0133c0165t0022g0020	1	276	0.0036	-4747	c.661 others(17): Show c.6615-215_7347-198del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	56/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF14_chr1_148526385_148601011	148557087	CAGAGAGA others(4736): Show CAGAGAGAGAGAGAGAACGAGCTCAGTGAATTGTCCAGGTGACACACTGA TGAGGGAGTAACAGGACACTCTGAGTTAGTGCCCTCAGGACACACAGCAT ACAGGGATCATGAAAAGACTGTGCTCAATAATTTTCCATAAAATGTGCTC AAGTTTCCATGCAGTCACCATGAGAATACAGTTTTTGAAGTCTGGTCCAC CTACAGTAGGTTAGTAAATGATAAGGGGAGGAAGAAATGGAAACCTAAAT ATCTACTGCAATGAAAACCAACAGCAATGTTAGTAGGAATAATTCAGGCT TGGTTGAAAAGATGTAATCGATAATGTCAGCCCGCTCTGTTTTCCCTGAA CCAGGAGTCTCCAGATGTCAACACAGAAGTAGCTGTTCACAATTGCTCAG TTACCTGGGGCATGGTGGGTCTTGGTCTTCTTCCTCTTCTTCGTCCTTTT TAAATCCTGCAATACATTCAGACAGGGACAGACAAAATAAGCCAATTCAC CTACACCCATAACAGTCCACTGTCTAATCCCCACACAGGGATCTCAGGCT CCTCAGCATGAGAACAGGACCATGTGAGAGATATACTTCAGGAGGCCTGA AAGCTGGTCATGATATTCCTTGCTTTGCATCTCAGAACCAAGGGTGAAAT ATCCCCATTCTGGTAGATCGTTATCCCAAAATCATTTATCCCAAGTTTGT GCAAACAGTTATGCTTTATTGTTCCCATCAGTTCAAAGAAAATGCCCCAG ATGATTTCCAGGAGGAAAACTAAAGTATTCAGCCCTGTCTCATCAAATGC CCAGCTCGTTCATGGATGCAAGAATTTTAGACACTGAAATTAGAATGAAG GAGGAAATCTACAAACCCTTGAGTCCAAATCATACTTCTGTGAATTTTTT ACATCTGCCTGGGTCCAATGTGCTGAGAGCGGGCTCAGGTTGCCACAGGC ATGGCTGGAGACTAGGAATAGAGCCTTGCTCACTGACCCATTTCATGTCT AGGCTTCCAACTGAGACTACAGTTTCATTACAACCTATATGCGCCCATAG GTTCTGCCTGCGGCAATGACGTCTCTCGGGTCAGTAAGGGGCACTTGGAA CAGGAATATCACCCCTATCTGGAAGACCAGGTGGAGGCTTATCACCTTCA CAGTAAGGTACTCACTGTCCACGTCAAGAGCCAAGCCAAGGTACTGTTCC TCCAATGAGTAAACAGCACTGCTGTAGGGCTGGCCTAAGTCAGGCAGTTC AAGATAACCTGAAGGAGTCGAATAACATCTATCCAGTGAGTCCTGCAAGA CTTCAGGCTCTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTAG GAAAAAGTAAAGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGC TAGATTTCATGGCTAACATAAGGAACTGTTTAAAAAGAAAAAGGACAGAT CCATTAATGAGGTAATGAATTATTGCCTTTATGTTGGGATAGACCAGGGC CAGGTAGAAAAGAATGAAAGAGAAAGACAGGGAGAGGGAGAGAGAGAGAG AGGAGAAAGTGAGCTCAGCGAATTGGCCGGGTGACACACTGATGAAGGGG TCAAAGGACACTCTGAGTTAGTGCCCTCGGGACACACAGCGAACAGTGAT CACGAAAAGAGTGGGCTCAATAATTTTCCATAAACTTGCTCAAGATTCCA TGCAGTTGCCATACAGCCTTTGAGGTATGGTCAACCTATAGTAAGTGAGT AAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAA AACCAACAGCAATGTCAGTAGGAGTAATTCAACCTTCGTTGAAAACATGA AATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGTGTCAAC ACAGAATTAAGCATCCATAATTGCTCAAAGTTACCTGGGGCATGATGGGT CTTGGTCTTCTTCCACTTCTTTGTACTTTTCAATTTCTGCAATAAGTTCA GACATGGACAGACATATTAAGCTGGTTCTCCTAAACACACATAACAATCC ACTGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGAGAATAGG ACACTGTGAGAGATAGTCTTCAGGAGGCCTGAAGGCTGATCACCATAGAG ATTCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTATTCTGGT AGATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGGTTATGC CATATTTTTCCAATCGATTTAAAGCAATTGCCCCCAAATGGTTGCTAGGA GAAAAACTGCACTATTCACCCTGTCTCATCAAATACTCAGATTGTTCATG GTAGCGAGGATTTCAGACGCTGAAATTAGAGTGAAGGATGAAATCTACAA GATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTCACATCTG CCCAGGTCCAATGTCATGAGAGTAGGATTAGGGCGCCACAGGCATGGCCT GAGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCTGGGCTTC CAAGTGGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGTCCTCCC TGTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGTAGGAATA TGACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGT ACTCACCATCCATGTCAACAGCCAAGCCAACACGCTGCTGCTCCAATATG TAAAAGGCACTTCTATAGGGCTGGCATGAGTCAGTCAGTTCAAGACAACC TGAAGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCC CTTTCTCATGCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGAAAAAAGTA AAGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCA TGGCTAACGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCCATTAATG AGGTAACAAATTATTGCCTTTATGTTGGGATAGAACAGGGCCAGGTAGAA AACAATGAAAGAGAAAGACAGAGAGAGAGAGACAGAGACAGAGACAGAGA CAGAGACAGAGAGAAAGTGACCTAGTGAATTGGCCAGGTGACATACTGGT AAGGGAGTCAAAGGACACTCTGAGTTAGTGCCCTCATGACACACAGCAAA CTGTGATCATGAAAAGAGTGAGCTCAATAGTTTTCCATAAAATATGCTCA AAATTCGATGCAGTGGCCATGAGAGTACAGCTTTTGAAGTATGGTCAACC TATGGTACGTTAGGAAATGATAAGGGGAGGAAGAAATGGAAACCTAAACA TCTACTGCAATGAAAACCAACAGCAATGACAGTAGGAGTAATTCAGCCTT CGCTGAAAACATGTCATCAAACACACTCTGGTTTCCCTGAATCTGTTGCC TCCAGGTGTTAACACAGAATTAAGCATCCACAATTGCTGAAAGTCACCTG GGGCATGGTGGGTTTTGATCTTCTTCCCCTTCTTTTCTTCCCCTTCTTCT TTCCTTCTTTGATCTTCTTCCCCTTCTTTTCTTCCCCTTCCCCTTCTTTT CAATTTCTGCAATAAATTCAGACATGGACAGACACATTAAGCTGATTCCC CTACACACATAACAATCCACTGTCTAATCCTCACACAGGGACCTCAGGCT CCTCAGCATAAGAATAGGACACTGTGAGAGATATATTTCAGGAGGCCTGA AGGCTGGTCATGATAGAAATTCCTCGGTTTTTCTCCCAGAAACTGTGGGT AAAATGTCCCTATTCTAGTAGATCGTTATCCCAATATCATTTGTCCCAAG TTTCTGCAAACAGTTACGCCATATTTTTCCAATCAACTTAAAGCAAATAC CCTCAAATGATTTCTAGGAGAAAAACTGCAATATTTAGCCCTGTCTCATC AAATACTCAGATTGTTCATGGTTGTGAGGACTTTAGACACTGAAATTAGA GTGAAAAAGGAAATCTACAAACCCTTGAGTCAAAATCATAGTTCTCTGAA TTTGTCACATCTGCCCAGGTCCAATGTCATGAGAATAGGATCAGGGCGCC ACAGGTATGGCCTGAGACTAGGAAGAGAGTCTTGCTCACTGACCCATCCC TTGTCTGGGCTTCCAGGTAGAACTAGAGTTTCATTCAACCTACATGTGCC TATAGGTCCTCCCTGTGGCAATGACATCTCTCAGCTCAGTAATGGCCACT TGGAGCAGGAATATGATCTTTATATGGAAGACTCAGTGGATCCTCATCAC CTTCATAGAAAGGTACTCACCTCCCACGTCAAGAGAAAAGCCAACATGTT TTTCCTCCAATGCATAAAAGGAACTTCCATAGGGCTGGCAGGAGTCAGGC TGTTCAAGACAACTGGAAGGAGTTGAATAACATCTATCCAGTGAGTCCTG CAAGACTTCAGGCTCTACTACCTCCAGCAGCTCCCTGCTGAGCCTGGAAA AGGAGGAAAAAGTAAAGAATAAGCCAGGGGAAATCAGACACAACAGAGCC CCAACTAGGTTTCATGGGTAGCATAGGGAAGTGGTTAAAAAACTAAAAGG ATAGATCCATTAATGAGGTAACAAATTATTGCCTTCATGTTGGGACAGAA CAGGGCCAAATGGAAAAGAATGAAAGAGAAAGACAGATAGACACACACAC ACACACACACACACAAACACACACACACACACAGAGAGAGAGAG	C C	exon_loss_variant exon_loss_variant	HIGH	HG04228.hp2 HG04228.hp2	a0085 a0085	a0085c0075 a0085c0075	a0085c0075t0001 a0085c0075t0001	a0085c0075t0001g0055 a0085c0075t0001g0055	1	222	0.0045	-4743	c.427 others(17): Show c.4275-251_5007-226del		NBPF14	ENSG00000270629.7	transcript	ENST00000619423.4	protein_coding	40/71						chr1	TogoVar
HOPX_chr4_56642998_56686296	56673800	GTTCAAGC others(4734): Show GTTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGC ATGCACCAACATGCCCATCTAATTTTTGGATTTTTAGTAGAGACGGGGTT TCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGG CCACCTCATCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACC CAGCCCTAATTTTACTATTGTTTAGTCAACTATTGTTTAACTCTTGAGTT AGTTCCAAGGACTCTCCTCCCTTTTCAGCTGTGGAACCCTGAGCCAGGTA CAGTGTATTAATGAAAGTAGGGGTGGCCTCCTGCTTTCTTCCCTCCTGCT TCATAAATCCCAGTTCCAGCCATCTCCAAAGATGCTAGTCTATGTCCCAG GAAGAGGGTAAGGCATATACAATAAAGTGATAGATACTTCCAACATTAGT TATTAAATTAAATATTAGCCACTGAATTAAAGTTTTTTGTAAAACAGATT TCACTCCTGGCACCAGCAAACTGAAAATCTGGAAAGGGTTGATGGAGATA TCAGGGCTAAGGAAGATTGTTTATGTACATTTCCTTAGGGAGAAGCCACA AGGAAGAAGTGAAAATACATCAACAACGACTAGACTATCTAAGCAGATCT GTCATGACCTTAAGAATCCTAGGAAATTTTCCTCATGATCCTAGATGGAA TGACTAGACCTAACAGCCAAAATGACTGCCACTGGTTTCCTGCCCAGTAT ACACTAAGAGATTAGAACTGATCAATGTCTGCCTCAGGTTTTTGTTTCAT TTCTTTCTGAACATACAAGGACAGAGTAGATCATTTGTGAAAGGTCTGGC ACTGTTTTCATGTTTGGTCACATTTTATCAAAACTACCAGAAGCAAATTA CAAGAAATTATGTGGAGATGGGTAAAATTAACTTCTCTACTTTTTATTTA TTTGTTTGTTTTAGAGATGGGGTCTTGCTATGTTGCCCAGACTGGAGTAC AGTGGCATCGTGATCATAGCTCACTGCAGCCTCGAACTTCTGGGCTCAAG CAACCTTCCCGCCTCAGTCTCCCAAGTAGCTAAAACTACAAGTGTGTGCC ACTATGTCTGGCTAACTAAAAAAAAAAAAAAAAAAAATGTAGAGATGAGG CTCAAACAATCCTCCCACCTCTGCCTTGCAAAGTGCTGGGATTATAGGCA CAAACCACCATGCCCAGCCAACTTCTCTACATTTAAAAGAGCTTCTATTG CTACCCAAGCATGGCCAAATAAGAGGCTGAAGCACCTGACCTTGTGATGA ACAATTCCTTGAATGCCCGACATTTATACTGAACTTCTTTTTGGTTTAGC CAACATAAATATACCAGTTCTCAGCCTTGGCGGGAGGGATACAATGCTTC CCACAGGAACCCTGAGTCACGGGGAGAGTAAATGACTTGGCACAGAGGTC AGAATGAGGACTGGGGCTGACTGGGTTCAAGAGCCAGCTCAGATACAAGC TCATCCTAAGATTCCAAGCAAGTCACTTTATGCTGTTGCATAAAGTAGAT TGTACTCATAGGTAACCATATAGTTCATTGCTCAGGCCAGGTATTTTTTA GAGTAAAAGGAGGTGCTATTAATAATTCCACTGGGACAATGAATCTTTCA GGCTCACAGCTGCTTCAAAATTCCATTACAGCTGAGAAAATAGGACCCAG GTTCCTGCTCACCAGACCTGTCCTCTGCTCCCCTGGCAGGAGATAGCTCA GCCTGGAGTTCTGGGGAAGATTGTTCAGCATATTGTAAAAGATAGATGTA GGCACTTTCCCAGCAAATAAAAAGGACAGCCTAACCTGCATCTGCTGTAT TGCACTGTGTGTTCAAAATCAACAGCACTGGAAGGCCAAAAACACATTAG GGCCCTTGCCCAGGAAGACAGCAGATACATGCACCTCCTGCACCAGGAGA CATGAGCCTTCCATTTGCAGCATCAGGCTTGCTGCCCCTCTATCAAACCT GTTCCCCTGTTCCCCAAGTGAGTGGGCAGGATGGGTATGGTCCAGAACAG AGCAGGGGCTGCTTCAGGATCCCCAGGTGATGGTTTTTAAAAGGGCAGGT TACTGCTTTATAAACCACTCCAAGCCATAGGTCATCCTTCTACCAACAAT GTCATCTTTCTATAGCACTGTCCACTGTCCCTATTCACTTGATGTTTTAA AAGTCAAAGGAAGCTGGCCAGGTGTGGTGGCTCATGCCTGTAATGGCAGC ATTTTGGGAGGCCAAGGTGGACAGATCGTTTGAGCTCAGGAGTTCAAGAC CAGCCTTGGCAACATGGTGAAACCCTGTCTCTATCAAAACTACAAAAAAT TAGCCAGGTGTGGTGGTGTGTGTCTGTGGTCCCAACTACTCTAGAGGCTG AGGTGGGAGGATTGCTTGAGCCTGGGAGGTGGAGGGTGCAGTGAGCCGAG ATCATGACACTGTACTCCAGCCTGGGTGACAGTGAGACTCTGTCTCAAAA ACAACAAAAAGTCTAAGGAAGCCATCAACAACATCCAGAAATTAAGCTGA GTTAGGTCATAACACAGCCTTAAAAAATGTCCAAGTGACCTCTTGAACTA AGTCATTGTGTAATGAGAGAATTTGGAAATGAAGGTGAAGGAGAAATATT CAAAGAAAAGTCATCCAAGGAAGGAAGAAATTCTATCGGTCATACAAACC TGTTTTATCAGTCTTGCAAACTTGTCATTTGTTTTTCTTTTCTTTTTTTT TTTATTTTGGAGAAACTCTGAATAACAGGAAAAAGCACAGGAAAAAGCAT TTGGCTTCCAAGTAGGGGCATTAAACTGGTGTTGACTGCTGCCCTGATGC CAACGACCTAATCCGTTCCCCAGAGCTAGAGTGCCAGGGCTCCCAGGGAC TCAAGATGGAGCTCGCCTTCACCCTCTCCTCCCCACTGCTGCTGTCACAA TGTGTCCTCTGGCTGCAGGGCTGCTCTGGGCTCCGACTGCCTGCAGACTG CCTCCCCAGAAGGGATGTTAATTACACACCCAGCCACGCCCCTCTTCAGA GACAGGACTGGCCACAGGCAGCTGCCACTTGTTTTCAAGAACTGCCACAA TCTGGTTTTCAAACTGGGCAAAAGTGCCCGAATGGGCCCATGGCCACATG CACTGGGAGGGGGTGGGGGGGCTGCCCCAGCTGCACAACTGGGTCCCCAA AGAATGAGGCTCCTGGCCACTAATACTAGGCAAGCTACTCTGCTGGTGCC AGCCTTCTGCTCCTGAGAAAGAAGCAGGTAATATTCTAAAATCCTTATGA GCAGAATTTCTTGACATTTTGTCTCCATTATAGTAACCTTAAGGTGGCTC TCCATTTTTCAGAAAGACACAGGAAATGCAGCTACTTCTGATGAGTTCAA CTGCATTGACAAAAAATGGACTAATTTAGAAAAAACAATCTAACAGGGCC CACAACCTATAGATGGTTGCCTACTGGATATGGTTTGAAAAATTATACTG AAAACCCACAATCTTGGTATATTTTTGCCCAGCAAGTTGCTTGGAATTCT GACCAATAAGGAGCACATATTTTGCATAAAACTTTGATTTGCCTGATTGC CCCACTTAAAAATTCAAATGGTAACTATATATAACATTTCAAGGAACTCC TAGATATGTTATCTTGCTGGAACCTACTTACTATACCAGGGAGTGACATA ATTCATTAAACGATTATTGTCTATTAACATCCTAATTTTAATTAGTTTTC CAGAGATGGAGAAAACAAGCCCTGAGAGAATAAGACCTGGAAAGTGGCAC ATTTGGATTGAAGGGGAGGTAAAAACCAATTGGAAACATGGCCAGGGTGG AGCCGGTGAGGCTCTGTGGTCCCACAGACACCTCTGAACTGACACCTGCA CCCATACAGGTGCTGAGGGAGAGCTAAGGAGCCACAGACAGGAAGGACAG AAGTCACAACGACAAACTTCACCCACTCATGCTTTTGCCTGGGCCTGACC TGGAAGTCCTAATTAAAAGACCCTGGACTGCCAGATAGACTCATCCCAGT GCTGGGAATGCACACATGCTATTTCTTGAAAGAACAACTTGGCTGTCCCC CAGAACAGAGTGCCCAGTGTGTACACTGGGATTCCTTTCAATAATTAGAA TCCTCTACTTATGCCAGATATTAATCGGGAAAAAAAGGAAGCTTTAGTTT TGAAACATCCCTTCTCACTCATTAGCACAATCCTTTAATAATGCACCTTG GAGGCCCTGAGTAATTCTTCTAGTTTGCTGCCCCGCAGCATGTCTGGGTT CCAAGGATTCGCTTGGAAGGTGCTGGATACCCTATCCTCGCTGGAGCTGG GAGTGTCCAGAAGCAGCCTCTTTCTTTACCTTTGAGCCTCTGTTGCTGTG TTCCCTGAGCCTCCCAAGCCTCATCCTACTCTCGGACTTGGTGGTCAGGT GGCATGGGGCCATCCCCATCCTCTCTTTGGCCCTTACTGTCCTTATCTGT CAAGTGAATGGTTTTGATTTCACTGGTTTTCATCCCTAGCTGCACATTAG ACTCACCTGGGGAACTTTAAAAACCAATCCCAGGGCTGCACACCTGGGGA TTCTGATTTAATTGGTCCAGGGTGGGGCCTAGTCACTGATTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGCCACCCAGGCAGGAGTG CAGTGGCACGATCTCCGCTCACTGCAACCTCTGCCTCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 HG03130.hp1 others(2): Show HG02622.hp1 HG02965.hp1 HG03130.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0173 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175	5	376	0.0133	-4741	c.-84 others(17): Show c.-84+2714_-84+7454del		HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding	1/3						chr4	TogoVar
USP17L2_chr8_12131435_12143849	12135283	ATAGCATA others(4731): 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 GTAACCGGGTTGGGACAGTGGCCACACAGTTGCCTTATTTTAGGTAAAAG AATGTCAGGGAAGAAATCTTTACCTATGAAACCGTGTGTGTATCTCTCTG TGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGCTTGTGCT GGGATGAACTTCCAAGTATGTACTTTTGGCAGCTACCGTCATCCTCTCAT CGACGGAAGGACAAGAAGTCTGAAGTGCGCTTTCTGACCTGAGAATAGTC AATGAAGTATAGTATTTAGCACAGCGTATTTTCTTCCTTAATAATAAAGG AGATATCCGTGGCATCAAACAGACCTTCCAGGGATAACCTTTCCACGTTC AGCCTATTGACTCTCTATCCGAGTGAAATTACTGGCCAGTGGAGAACAAG ACAAGTCTTTGCATGAAATGCTCTTGTGGAAGCTAGGCTGCCAAATAATA AAGCATCAAATGGTAGAAACATGCACTGAAGTTTGAAGAGTTACTCAGTG CACAAAGTAGGCTGTGAAAGACTTTGGGGAAATCATGCAATCACCGAGAG ACTAATTGATGACATTCCCCAAATTTATGTGTGCCAGAAAAGAGAGATGG TCCTGACATTGTATAGTGAGTGGTTTCGGACGTGCGGCGGCAGTTTAAGA AAACTTGAAACAAAAAACTTGAGAAATCCAAAGGTATCCCAACTATAAGC TTTTGTTTATTAAAGAACTGATGAAAATAAAAACAACGTATCTCACAGCA TGGGTGATACTATTTCCATACTTACGTGATAATGGATCAACATTTCATAG AGATGAAATAAAAAGTTCTAATTTTGACAAAAGCAAACAAGGAAAATTAT ACCGTAGAAAAGCCCGGGTGACGGGAGTGAGGCCCTGTCTGAAGAAGAAA ACATCGGAGACGTTTAAAAGCAGTGAGTGAAACAGAGGG	A A	transcript_ablation transcript_ablation	HIGH	HG02109.hp1 HG02145.hp2 HG02717.hp2 others(13): Show HG02109.hp1 HG02145.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 NA18747.hp2 NA18966.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	16	195	0.0821	-4738	c.-12 others(11): Show c.-1261_*1884del	p.0? p.0?	USP17L2	ENSG00000223443.3	transcript	ENST00000333796.4	protein_coding	1/1						chr8	TogoVar
NBPF19_chr1_149470045_149561361	149538593	CTATGCTA others(4730): Show CTATGCTACCCATGAAACCTAGTTGGGGCTCTGTTGTGTGTGATTTCCCC TGGCTTATTCTTTACTTTTTCCTCCTTTTCCAGGCTCAGCAGGGAGCTGC TGGAGGTAGTAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTAT TCAACTCCTTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAGCCCTATGG AAGTTCCTTTTATGCATTGGAGGAAAAACATGTTGGCTTTTCTCTTGACG TGGGAGGTGAGTACCTTTCTATGAAGGTGATAAGCATCCACTGAGTCTTC CATATAAAGATCATATTCCTGCTCCAAGTGGCCATTACTGAGCTGAGAGA TGTCATTGCCGCAGTGAGGACCTATAGGCACATGTAGGTTGAATGAAACT CTAGTTCTACCTGGAAGCCCAGACATGGGATGGGTCAGTGAGCATGGCTC TCTTCCTAGTCTCAGGCCATACCTGTGGCACTCTGATTCTACTCTCATGA CATTGGACCTGGGCAGATGTGACAAATTCAGAGAACTATGATTTTGACTC AAGGGTTTGCAGATTTCCTTTTTCACTCTAATTTCAGTGTCTAAAGTCCT CACAACCATGAACAATCTGAGTATTTGATGAGACAGGGCTAAATATTGCA GTTTTTCTCCCAGAAATCATTTGAGGGTATTTGCTTTAAATTGATTGGAA AAATATGGCATAACTGTTTGCACAAACTTGGGACAAATGATATTGGGATA ACGATCTACTAGAATAGGGACATTTTACCCACAGTTTCTGGGAGAAAAAC CGAGGAATTTCTATCATGACCAGCCTTCAGGCCTCCTGAAATATATCTCT CACAGTGTCCTATTCTTATGCTGAGGAGCCTGAGGTCCCTGTGTGAGGAT TAGACAGTGGATTGTTATGTGTGTAGGGGAATCAGCTTAATGTGTCTGTC CATGTCTGAATTTATTGCAGAAATTGAAAAGAAGGGGAAGGGGAAGAAAA GAAGGGGAAGAAGATCAAAGAAGGAAAGAAGAAGGGGAAGAAAAGAAGGG GAAGAAGATCAAAACCCACCATGCCCCAGGTGACTTTCAGCAATTGTGGA TGCTTAATTCTGTGTTAACACCTGGAGGCAACAGATTCAGAGAAACCAGA CTGTGTTTGATGTCATGTTTTCAACGAAGGCTGAATTACTCCTACTGTCA TTGCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTC CCCTTATCATTTACTAACGTACCATAGGTTGACCATACTTCAAAAGCTGT ACTCTCATGGCCACTGCATCGAATTTTGAGCATATTTTATGGAAAACTAT TGAGCTCACTCTTTTCATGATCACAGTTTGCTGTGTGTCATGAGGGCACT AACTCACAGTGTCCTTTTACTCCCTTACCAGTATGTCACCTGGCCAATTC ACTAGGTCACTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTG TCTCTCTCTCTCTCTCTGTCTTTCTCTTTCATTGTTTTCTACCTGGCCCT GTTCTATCCCAACATAAAGGCAATAATTTGTTACCTCATTAATGGATCTG TCCTTTTTCTTTTCAAACTCTTCCTTAACGTTAGCCATGAAATCTAGCTG GGGCTGTGTGGTTTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCCAC TTTTCCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGGGCCTGAAGTCTT GCAGGACTCACTGGATAGATGTTATTCAACTCCTTCAGGTTGTCTTGAAC TGACTGACTCATGCCAGCCCTACAGAAGTGCCTTTTACATATTGGAGCAA CAGTGTGTTGGCTTGGCTGTTGACATGGATGGTGAGTACCTTTCTATGAA GGTGATAAGGATCCACTGAGTCTTCTGGTTAGGGTCATATTCCTACTGCA AGTGGCCCTTACTGAGCTGAGAGATGTCATTGCCACAGGGAGGACCTATA GGCACATGTAGGTTGAATGAAACTCTAGTTCCACTTGGCAGCCCAGACAA GGGATGGGTCAGTGAGCAAGGCTCTCTCCCTAGTCTCAGGCCATGCCTGT GGAGCCCTAATCCTACTCTCATGACACTGGACCTGGGCAGATGTGACAAA TTCACACAACTCTGATTTTGTCTCAATTTTGTAGATCTTGTAGATTTCAT CCTTCACTCTAATTTCAGCGTCTAAAATCCTCGCTACCATGAACAATCTG AGTATTTGATGAGACAGGGCTGAATAGTGCAGTTTTTCTCCTAGCAACCA TTTGGGGGTATTTGCTTTAAATCGATTGGAAAAATATGGCATAACCATTT GCACAAACTTGGGACAAATGATATTGGGATAACGATCTACCAGAATAGGG AATTTTACCCACAGTTTCTGGGACAAAAACCAAGGAATCTCTATGGTGAT CAGCCTTCAGGCCTCCTGAAGAATATCTCTCACAGTGTCCTATTCTCATG CTGAGGAGCCTGAAGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGT GTGTAGGAGAACCAGCTTCATATGTCTGTCCATGTCTGAACTTATTGCAG AAATTGAAAAGTACCAAGAAGTGGAAGAAGACCAAGACCCATCATGCCCC AGGTAACTTTGAGCAATTATGGATGCTTAATTCTGTGTTGACACCTGGAG ATGCCAGGTCCAGGGAAAACAAGAGTGTGTTCAATTTCATGTTTTCAACG AAGGTTGAATTACTCCTACTGACATGGCTGTTGGTTTTCATTGCAGTAGA TGTTTAGGTTTCCATTTCTTCCTCCCCTTAACATTTACTAACTTACTATA GGTTGACCATACCTCAAAGGCTGTATGGCAACTGCATGGAATCTTGAGCA AGTTTATGGAAAATTATTGAGCCCACTCTTTTCATGATCACTGTTCGCTG TGTGTCCCGAGGGCACTAACTCAGAGTGTCCTTTGACCCCTTCATCAGTG TGTCACCCGGCCAACTCGCTGAGCTCACTTTCTCCTCTCTCTCTCTCTCT CTCTCTCTCTCCCTCTCCCTGTCTTTCTCTTTCATTCTTTTCTACCTGGC CCTGGTCTATCCCAACATAAAGGCAATAATTCATTACCTCATTAATGGAT CTGTCCTTTTTCTTTTTAAACAGTTCCTTATGTTAGCCATGAAATCTAGC TGGGGCTGTGTGGTTTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCT ACTTTTCCAGGCTCAGCAGGGAGCTGCTGGCTGAGAAAGAGCCTGAAGTC TTGCAGGACCCACTGGATAGATGTTATTCGACTCCTTCAGGTTATCTTGA ACTGCCTGACTTAGGCCAGCCCTACAGCAGTGCTGTTTACTCATTGGAGG AACAGTACCTTGGCTTGGCTCTTGACGTGGACAGTGAGTACCTTACTATG AAGGTGATAAGCCTCCACCTGGTCTTCCAGATAGGGGTGATATTCCTGTT CCAAGTGGCCCTTACTGACCCGAGAGATGTCATTGCCGCAGGCAGGACCT ATGGGCGCATATAGGTTGTAATGAAACTGTAGTCTCAGTTGGAAGCCTAG ACATGAAATGGGTCAGTGAGCAAGGCTCTATTCCTAGTCTCCAGCCATGC CTGTGGCAACCTGAGCCCGCTCTCAGCACATTGGACCCAGGCAGATGTAA AAAATTCACAGAACTATGATTTGGACTCAAGGGTTTGTAGATTTCCTCCT TCATTCTAATTTCAGTGTCTAAAATTCTTACATCCATGAACGAGCTGGGC ATTTGATGAGACAGGGCTGAATACTGCAGTTTTCCTCCTAGAAATCATCT GGGGCATTTTCTTTGAACTGATGGGAACAATAAGGCATAACTGTTTGCAC AAACTTGGGATAAGTGATTTTGGGATAACGATCTTCCAGAATGGGGATAT TTCACCCTTGGTTCTGAGATGCAAACCAAAGAATATCATGACCAGCTTTC AGGCCTCCTGAAGTATATCTCTCACATTGTCCTGTTCTCATGCTGAGGAG CCTGAGATCCCTGTGTGGGGATTAGACAGTGGACTGTTATGGGTGTAGGT GAATTGGCTTATTTTGTCTGTCCCTGTCTGAATGTATTGCAGGAATTAAA AAGGACCAAGAAGAGGAAGAAGACCAAGGCCCACCATGCCCCAGGTAACT GAGCAATTGTGAACAGCTACTTCTGTGTTGACATCTGGAGACTCCTGGTT CAGGGAAAACAGAGCGGGCTGACATTATCGATTACATCTTTTCAAGCAAG CCTGAATTATTCCTACTAACATTGCTGTTGGTTTTCATTGCAGTAGATAT TTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAACCTACTGTAGGT GGACCAGACTTCAAAAACTGTATTCTCATGGCGACTGCATGGAAACTTGA ACACATTTTATGGAAAATTATTGAGCACAGTCTTTTCATGATCACTGTAT GCTGTGTGTCCTGAGGGCACTAACTCAGAGTGTCCTGTTACTCCCTCATC AGTGTGTCACCTGGACAATTCACTGAGCTCGTTCTCTCTCTCTCTGTGTG TGTGTCTGTGTGTGTGTGTGTGTCTATCTGTCTTTCTCTTTCATTCTTTT CCATTTGGCCCTGTTCTGTCCCAACATGAAGGCAATAATTTGTTACCTCA TTAATGGATCTATCCTTTTACTTTCTTAACCACTTCCT	C C	exon_loss_variant exon_loss_variant	HIGH	HG01952.hp2 HG01952.hp2	a0210 a0210	a0210c0068 a0210c0068	a0210c0068t0016 a0210c0068t0016	a0210c0068t0016g0233 a0210c0068t0016g0233	1	276	0.0036	-4737	c.909 others(15): Show c.9092+62_9824+61del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	76/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149544596	ACGTACCA others(4730): Show ACGTACCATAGGTTGACCATACTTCAAAAGCTGTACTCTCATGGCCACTG CATCGAATTTTGAGCATATTTTATGGAAAACTATTGAGCTCACTCTTTTC ATGATCACAGTTTGCTGTGTGTCATGAGGGCACTAACTCAGAGTGTCCTT TTACTCCCTTACCAGTATGTCACCTGGCCAATTCACTAGGTCACTTTCTC TCTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTC TGTCTTTCTCTTTCATTGTTTTCTACCTGGCCCTGTTCTATCCCAACATA AAGGCAATAATTTGTTACCTCATTAATGGATCTGTCCTTTTTCTTTTCAA ACTCTTCCTTAACGTTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCT GATTCCCCCTGGCTTATTCTTTACTTTTTCCCACTTTTCCAGGCTCAGCA GGGAGCTGCTGGATGAGAAAGGGCCTGAAGTCTTGCAGGACTCACTGGAT AGATGTTATTCAACTCCTTCAGGTTGTCTTGAACTGACTGACTCATGCCA GCCCTACAGAAGTGCCTTTTACATATTGGAGCAACAGTGTGTTGGCTTGG CTGTTGACATGGATGGTGAGTACCTTTCTATGAAGGTGATAAGGATCCAC TGAGTCTTCTGGTTAGGGTCATATTCCTACTGCAAGTGGCCCTTACTGAG CTGAGAGATGTCATTGCCACAGGGAGGACCTATAGGCACATGTAGGTTGA ATGAAACTCTAGTTCCACTTGGCAGCCCAGACAAGGGATGGGTCAGTGAG CAAGGCTCTCTCCCTAGTCTCAGGCCATGCCTGTGGAGCCCTAATCCTAC TCTCATGACACTGGACCTGGGCAGATGTGACAAATTCACACAACTCTGAT TTTGTCTCAATTTTGTAGATCTTGTAGATTTCATCCTTCACTCTAATTTC AGCGTCTAAAATCCTCGCTACCATGAACAATCTGAGTATTTGATGAGACA GGGCTGAATAGTGCAGTTTTTCTCCTAGCAACCATTTGGGGGTATTTGCT TTAAATCGATTGGAAAAATATGGCATAACCATTTGCACAAACTTGGGACA AATGATATTGGGATAACGATCTACCAGAATAGGGAATTTTACCCACAGTT TCTGGGACAAAAACCAAGGAATCTCTATGGTGATCAGCCTTCAGGCCTCC TGAAGAATATCTCTCACAGTGTCCTATTCTCATGCTGAGGAGCCTGAAGT CCCTGTGTGAGGACTAGACAGTGGATTGTTATGTGTGTAGGAGAACCAGC TTCATATGTCTGTCCATGTCTGAACTTATTGCAGAAATTGAAAAGTACCA AGAAGTGGAAGAAGACCAAGACCCATCATGCCCCAGGTAACTTTGAGCAA TTATGGATGCTTAATTCTGTGTTGACACCTGGAGATGCCAGGTCCAGGGA AAACAAGAGTGTGTTCAATTTCATGTTTTCAACGAAGGTTGAATTACTCC TACTGACATGGCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATT TCTTCCTCCCCTTAACATTTACTAACTTACTATAGGTTGACCATACCTCA AAGGCTGTATGGCAACTGCATGGAATCTTGAGCAAGTTTATGGAAAATTA TTGAGCCCACTCTTTTCATGATCACTGTTCGCTGTGTGTCCCGAGGGCAC TAACTCAGAGTGTCCTTTGACCCCTTCATCAGTGTGTCACCCGGCCAACT CGCTGAGCTCACTTTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCT CCCTGTCTTTCTCTTTCATTCTTTTCTACCTGGCCCTGGTCTATCCCAAC ATAAAGGCAATAATTCATTACCTCATTAATGGATCTGTCCTTTTTCTTTT TAAACAGTTCCTTATGTTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTT CTGATTCCCCCTGGCTTATTCTTTACTTTTTCCTACTTTTCCAGGCTCAG CAGGGAGCTGCTGGCTGAGAAAGAGCCTGAAGTCTTGCAGGACCCACTGG ATAGATGTTATTCGACTCCTTCAGGTTATCTTGAACTGCCTGACTTAGGC CAGCCCTACAGCAGTGCTGTTTACTCATTGGAGGAACAGTACCTTGGCTT GGCTCTTGACGTGGACAGTGAGTACCTTACTATGAAGGTGATAAGCCTCC ACCTGGTCTTCCAGATAGGGGTGATATTCCTGTTCCAAGTGGCCCTTACT GACCCGAGAGATGTCATTGCCGCAGGCAGGACCTATGGGCGCATATAGGT TGTAATGAAACTGTAGTCTCAGTTGGAAGCCTAGACATGAAATGGGTCAG TGAGCAAGGCTCTATTCCTAGTCTCCAGCCATGCCTGTGGCAACCTGAGC CCGCTCTCAGCACATTGGACCCAGGCAGATGTAAAAAATTCACAGAACTA TGATTTGGACTCAAGGGTTTGTAGATTTCCTCCTTCATTCTAATTTCAGT GTCTAAAATTCTTACATCCATGAACGAGCTGGGCATTTGATGAGACAGGG CTGAATACTGCAGTTTTCCTCCTAGAAATCATCTGGGGCATTTTCTTTGA ACTGATGGGAACAATAAGGCATAACTGTTTGCACAAACTTGGGATAAGTG ATTTTGGGATAACGATCTTCCAGAATGGGGATATTTCACCCTTGGTTCTG AGATGCAAACCAAAGAATATCATGACCAGCTTTCAGGCCTCCTGAAGTAT ATCTCTCACATTGTCCTGTTCTCATGCTGAGGAGCCTGAGATCCCTGTGT GGGGATTAGACAGTGGACTGTTATGGGTGTAGGTGAATTGGCTTATTTTG TCTGTCCCTGTCTGAATGTATTGCAGGAATTAAAAAGGACCAAGAAGAGG AAGAAGACCAAGGCCCACCATGCCCCAGGTAACTGAGCAATTGTGAACAG CTACTTCTGTGTTGACATCTGGAGACTCCTGGTTCAGGGAAAACAGAGCG GGCTGACATTATCGATTACATCTTTTCAAGCAAGCCTGAATTATTCCTAC TAACATTGCTGTTGGTTTTCATTGCAGTAGATATTTAGGTTTCCATTTCT TCCTCCCCTTATCATTTACTAACCTACTGTAGGTGGACCAGACTTCAAAA ACTGTATTCTCATGGCGACTGCATGGAAACTTGAACACATTTTATGGAAA ATTATTGAGCACAGTCTTTTCATGATCACTGTATGCTGTGTGTCCTGAGG GCACTAACTCAGAGTGTCCTGTTACTCCCTCATCAGTGTGTCACCTGGAC AATTCACTGAGCTCGTTCTCTCTCTCTCTGTGTGTGTGTCTGTGTGTGTG TGTGTGTCTATCTGTCTTTCTCTTTCATTCTTTTCCATTTGGCCCTGTTC TGTCCCAACATGAAGGCAATAATTTGTTACCTCATTAATGGATCTATCCT TTTACTTTCTTAACCACTTCCTTATGCTACCCATGAAACCTAGTTGGGGC TCTGTTGTGTGTGATTTCCCCTGGCTTATTCTTTACTTTTTCCTCCTTTT CCAGGCTCAGCAGGGAGCTGCTGGAGGTAGTAGAGCCTGAAGTCTTGCAG GACTCACTGGATAGATGTTATTCAACTCCTTCCAGTTGTCTTGAACAGCC TGACTCCTGCCAGCCCTATGGAAGTTCCTTTTATGCATTGGAGGAAAAAC ATGTTGGCTTTTCTCTTGACGTGGGAGGTGAGTACCTTTCTATGAAGGTG ATAAGCATCCACTGAGTCTTCCATATAAAGATCATATTCCTGCTCCAAGT GGCCATTACTGAGCTGAGAGATGTCATTGCCGCAGTGAGGACCTATAGGC ACATGTAGGTTGAATGAAACTCTAGTTCTACCTGGAAGCCCAGACATGGG ATGGGTCAGTGAGCATGGCTCTCTTCCTAGTCTCAGGCCATACCTGTGGC ACTCTGATTCTACTCTCATGACATTGGACCTGGGCAGATGTGACAAATTC AGAGAACTATGATTTTGACTCAAGGGTTTGTAGATTTCCTTTTTCACTCT AATTTCAGTGTCTAAAGTCCTCACAACCATGAACAATCTGAGTATTTGAT GAGACAGGGCTAAATATTGCAGTTTTTCTCCCAGAAATCATTTGAGGGTA TTTGCTTTAAATTGATTGGAAAAATATGGCATAACTGTTTGCACAAACTT GGGACAAATGATATTGGGATAACGATCTACTAGAATAGGGACATTTTACC CACAGTTTCTGGGAGAAAAACCGAGGAATTTCTATCATGACCAGCCTTCA GGCCTCCTGAAATATATCTCTCACAGTGTCCTATTCTTATGCTGAGGAGC CTGAGGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGGG AATCAGCTTAATGTGTCTGTCCATGTCTGAATTTATTGCAGAAATTGAAA AGAAGGGGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAGAAGGAAAGA AGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAACCCACCATGCCCCAG GTGACTTTCAGCAATTGTGGATGCTTAATTCTGTGTTAACACCTGGAGGC AACAGATTCAGGGAAACCAGAGTGTGTTTGATGTCATGTTTTCAACGAAG GCTGAATTACTCCTACTGTCATTGCTGTTGGTTTTCATTGCAGTAGATGT TTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAG	A A	exon_loss_variant exon_loss_variant	HIGH	HG00609.hp2 HG00738.hp2 HG01069.hp1 others(35): Show HG00609.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01168.hp1 HG01257.hp1 HG01496.hp2 HG02080.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02683.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp2 NA18939.hp1 NA18947.hp1 NA18963.hp1 NA18977.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18994.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19079.hp2 homoSapiens_chm13v2.hp1	a0005 a0010 a0021 others(26): Show a0005 a0010 a0021 a0025 a0026 a0027 a0054 a0058 a0062 a0064 a0065 a0066 a0071 a0078 a0079 a0089 a0090 a0098 a0100 a0105 a0106 a0113 a0114 a0115 a0120 a0122 a0126 a0175 a0176	a0005c0004 a0010c0007 a0021c0022 others(26): Show a0005c0004 a0010c0007 a0021c0022 a0025c0031 a0026c0030 a0027c0029 a0054c0085 a0058c0087 a0062c0093 a0064c0094 a0065c0098 a0066c0097 a0071c0102 a0078c0111 a0079c0107 a0089c0123 a0090c0121 a0098c0147 a0100c0145 a0105c0140 a0106c0139 a0113c0134 a0114c0137 a0115c0149 a0120c0155 a0122c0156 a0126c0130 a0175c0193 a0176c0194	a0005c0004t0001 a0005c0004t0025 a0010c0007t0001 others(27): Show a0005c0004t0001 a0005c0004t0025 a0010c0007t0001 a0021c0022t0001 a0025c0031t0001 a0026c0030t0001 a0027c0029t0001 a0054c0085t0001 a0058c0087t0001 a0062c0093t0001 a0064c0094t0001 a0065c0098t0001 a0066c0097t0001 a0071c0102t0001 a0078c0111t0001 a0079c0107t0001 a0089c0123t0001 a0090c0121t0008 a0098c0147t0001 a0100c0145t0001 a0105c0140t0001 a0106c0139t0001 a0113c0134t0001 a0114c0137t0001 a0115c0149t0026 a0120c0155t0001 a0122c0156t0001 a0126c0130t0001 a0175c0193t0001 a0176c0194t0001	a0005c0004t0001g0056 a0005c0004t0001g0131 a0005c0004t0001g0132 others(34): Show a0005c0004t0001g0056 a0005c0004t0001g0131 a0005c0004t0001g0132 a0005c0004t0025g0073 a0010c0007t0001g0002 a0010c0007t0001g0045 a0021c0022t0001g0080 a0021c0022t0001g0169 a0025c0031t0001g0032 a0025c0031t0001g0033 a0026c0030t0001g0030 a0026c0030t0001g0035 a0027c0029t0001g0061 a0027c0029t0001g0062 a0054c0085t0001g0150 a0058c0087t0001g0048 a0062c0093t0001g0267 a0064c0094t0001g0047 a0065c0098t0001g0101 a0066c0097t0001g0175 a0071c0102t0001g0143 a0078c0111t0001g0102 a0079c0107t0001g0059 a0089c0123t0001g0164 a0090c0121t0008g0149 a0098c0147t0001g0031 a0100c0145t0001g0076 a0105c0140t0001g0037 a0106c0139t0001g0055 a0113c0134t0001g0065 a0114c0137t0001g0133 a0115c0149t0026g0142 a0120c0155t0001g0126 a0122c0156t0001g0086 a0126c0130t0001g0134 a0175c0193t0001g0128 a0176c0194t0001g0129	38	276	0.1377	-4737	c.999 others(16): Show c.9998-71_10730-72del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	83/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149545859	CTAGACAG others(4730): Show CTAGACAGTGGATTGTTATGTGTGTAGGAGAACCAGCTTCATATGTCTGT CCATGTCTGAACTTATTGCAGAAATTGAAAAGTACCAAGAAGTGGAAGAA GACCAAGACCCATCATGCCCCAGGTAACTTTGAGCAATTATGGATGCTTA ATTCTGTGTTGACACCTGGAGATGCCAGGTCCAGGGAAAACAAGAGTGTG TTCAATTTCATGTTTTCAACGAAGGTTGAATTACTCCTACTGACATGGCT GTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCCCTT AACATTTACTAACTTACTATAGGTTGACCATACCTCAAAGGCTGTATGGC AACTGCATGGAATCTTGAGCAAGTTTATGGAAAATTATTGAGCCCACTCT TTTCATGATCACTGTTCGCTGTGTGTCCCGAGGGCACTAACTCAGAGTGT CCTTTGACCCCTTCATCAGTGTGTCACCCGGCCAACTCGCTGAGCTCACT TTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTGTCTTTCTC TTTCATTCTTTTCTACCTGGCCCTGGTCTATCCCAACATAAAGGCAATAA TTCATTACCTCATTAATGGATCTGTCCTTTTTCTTTTTAAACAGTTCCTT ATGTTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTG GCTTATTCTTTACTTTTTCCTACTTTTCCAGGCTCAGCAGGGAGCTGCTG GCTGAGAAAGAGCCTGAAGTCTTGCAGGACCCACTGGATAGATGTTATTC GACTCCTTCAGGTTATCTTGAACTGCCTGACTTAGGCCAGCCCTACAGCA GTGCTGTTTACTCATTGGAGGAACAGTACCTTGGCTTGGCTCTTGACGTG GACAGTGAGTACCTTACTATGAAGGTGATAAGCCTCCACCTGGTCTTCCA GATAGGGGTGATATTCCTGTTCCAAGTGGCCCTTACTGACCCGAGAGATG TCATTGCCGCAGGCAGGACCTATGGGCGCATATAGGTTGTAATGAAACTG TAGTCTCAGTTGGAAGCCTAGACATGAAATGGGTCAGTGAGCAAGGCTCT ATTCCTAGTCTCCAGCCATGCCTGTGGCAACCTGAGCCCGCTCTCAGCAC ATTGGACCCAGGCAGATGTAAAAAATTCACAGAACTATGATTTGGACTCA AGGGTTTGTAGATTTCCTCCTTCATTCTAATTTCAGTGTCTAAAATTCTT ACATCCATGAACGAGCTGGGCATTTGATGAGACAGGGCTGAATACTGCAG TTTTCCTCCTAGAAATCATCTGGGGCATTTTCTTTGAACTGATGGGAACA ATAAGGCATAACTGTTTGCACAAACTTGGGATAAGTGATTTTGGGATAAC GATCTTCCAGAATGGGGATATTTCACCCTTGGTTCTGAGATGCAAACCAA AGAATATCATGACCAGCTTTCAGGCCTCCTGAAGTATATCTCTCACATTG TCCTGTTCTCATGCTGAGGAGCCTGAGATCCCTGTGTGGGGATTAGACAG TGGACTGTTATGGGTGTAGGTGAATTGGCTTATTTTGTCTGTCCCTGTCT GAATGTATTGCAGGAATTAAAAAGGACCAAGAAGAGGAAGAAGACCAAGG CCCACCATGCCCCAGGTAACTGAGCAATTGTGAACAGCTACTTCTGTGTT GACATCTGGAGACTCCTGGTTCAGGGAAAACAGAGCGGGCTGACATTATC GATTACATCTTTTCAAGCAAGCCTGAATTATTCCTACTAACATTGCTGTT GGTTTTCATTGCAGTAGATATTTAGGTTTCCATTTCTTCCTCCCCTTATC ATTTACTAACCTACTGTAGGTGGACCAGACTTCAAAAACTGTATTCTCAT GGCGACTGCATGGAAACTTGAACACATTTTATGGAAAATTATTGAGCACA GTCTTTTCATGATCACTGTATGCTGTGTGTCCTGAGGGCACTAACTCAGA GTGTCCTGTTACTCCCTCATCAGTGTGTCACCTGGACAATTCACTGAGCT CGTTCTCTCTCTCTCTGTGTGTGTGTCTGTGTGTGTGTGTGTGTCTATCT GTCTTTCTCTTTCATTCTTTTCCATTTGGCCCTGTTCTGTCCCAACATGA AGGCAATAATTTGTTACCTCATTAATGGATCTATCCTTTTACTTTCTTAA CCACTTCCTTATGCTACCCATGAAACCTAGTTGGGGCTCTGTTGTGTGTG ATTTCCCCTGGCTTATTCTTTACTTTTTCCTCCTTTTCCAGGCTCAGCAG GGAGCTGCTGGAGGTAGTAGAGCCTGAAGTCTTGCAGGACTCACTGGATA GATGTTATTCAACTCCTTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAG CCCTATGGAAGTTCCTTTTATGCATTGGAGGAAAAACATGTTGGCTTTTC TCTTGACGTGGGAGGTGAGTACCTTTCTATGAAGGTGATAAGCATCCACT GAGTCTTCCATATAAAGATCATATTCCTGCTCCAAGTGGCCATTACTGAG CTGAGAGATGTCATTGCCGCAGTGAGGACCTATAGGCACATGTAGGTTGA ATGAAACTCTAGTTCTACCTGGAAGCCCAGACATGGGATGGGTCAGTGAG CATGGCTCTCTTCCTAGTCTCAGGCCATACCTGTGGCACTCTGATTCTAC TCTCATGACATTGGACCTGGGCAGATGTGACAAATTCAGAGAACTATGAT TTTGACTCAAGGGTTTGTAGATTTCCTTTTTCACTCTAATTTCAGTGTCT AAAGTCCTCACAACCATGAACAATCTGAGTATTTGATGAGACAGGGCTAA ATATTGCAGTTTTTCTCCCAGAAATCATTTGAGGGTATTTGCTTTAAATT GATTGGAAAAATATGGCATAACTGTTTGCACAAACTTGGGACAAATGATA TTGGGATAACGATCTACTAGAATAGGGACATTTTACCCACAGTTTCTGGG AGAAAAACCGAGGAATTTCTATCATGACCAGCCTTCAGGCCTCCTGAAAT ATATCTCTCACAGTGTCCTATTCTTATGCTGAGGAGCCTGAGGTCCCTGT GTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGGGAATCAGCTTAATG TGTCTGTCCATGTCTGAATTTATTGCAGAAATTGAAAAGAAGGGGAAGGG GAAGAAAAGAAGGGGAAGAAGATCAAAGAAGGAAAGAAGAAGGGGAAGAA AAGAAGGGGAAGAAGATCAAAACCCACCATGCCCCAGGTGACTTTCAGCA ATTGTGGATGCTTAATTCTGTGTTAACACCTGGAGGCAACAGATTCAGGG AAACCAGAGTGTGTTTGATGTCATGTTTTCAACGAAGGCTGAATTACTCC TACTGTCATTGCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATT TCTTCCTCCCCTTATCATTTACTAGCGTACCATAGGTTGACCATACTTCA AAAGCTGTACTCTCATGGCCACTGCATCGAATTTTGAGCATATTTTATGG AAAACTATTGAGCTCACTCTTTTCATGATCACAGTTTGCTGTGTGTCATG AGGGCACTAACTCAGAGTGTCCTTTTACTCCCTTACCAGTATGTCACCTG GCCAATTCACTAGGTCACTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTC TGTCTCTGTCTCTCTCTCTCTCTCTGTCTTTCTCTTTCATTGTTTTCTAC CTGGCCCTGTTCTATCCCAACATAAAGGCAATAATTTGTTACCTCATTAA TGGATCTGTCCTTTTTCTTTTCAAACTCTTCCTTAACGTTAGCCATGAAA TCTAGCTGGGGCTGTGTGGTTTCTGATTCCCCCTGGCTTATTCTTTACTT TTTCCCACTTTTCCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGGGCCT GAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAACTCCTTCAGGTTG TCTTGAACTGACTGACTCATGCCAGCCCTACAGAAGTGCCTTTTACATAT TGGAGCAACAGTGTGTTGGCTTGGCTGTTGACATGGATGGTGAGTACCTT TCTATGAAGGTGATAAGGATCCACTGAGTCTTCTGGTTAGGGTCATATTC CTACTGCAAGTGGCCCTTACTGAGCTGAGAGATGTCATTGCCACAGGGAG GACCTATAGGCACATGTAGGTTGAATGAAACTCTAGTTCCACTTGGCAGC CCAGACAAGGGATGGGTCAGTGAGCAAGGCTCTCTCCCTAGTCTCAGGCC ATGCCTGTGGAGCCCTAATCCTACTCTCATGACACTGGACCTGGGCAGAT GTGACAAATTCACACAACTCTGATTTTGTCTCAATTTTGTAGATCTTGTA GATTTCATCCTTCACTCTAATTTCAGCGTCTAAAATCCTCGCTACCATGA ACAATCTGAGTATTTGATGAGACAGGGCTGAATAGTGCAGTTTTTCTCCT AGCAACCATTTGGGGGTATTTGCTTTAAATCGATTGGAAAAATATGGCAT AACCATTTGCACAAACTTGGGACAAATGATATTGGGATAACGATCTACCA GAATAGGGAATTTTACCCACAGTTTCTGGGACAAAAACCAAGGAATCTCT ATGGTGATCAGCCTTCAGGCCTCCTGAAGAATATCTCTCACAGTGTCCTA TTCTCATGCTGAGGAGCCTGAAGTCCCTGTGTGAGGAT	C C	exon_loss_variant exon_loss_variant	HIGH	HG02965.hp1 HG02965.hp1	a0158 a0158	a0158c0084 a0158c0084	a0158c0084t0001 a0158c0084t0001	a0158c0084t0001g0049 a0158c0084t0001g0049	1	276	0.0036	-4737	c.105 others(19): Show c.10557-215_11289-199del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	88/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
CSMD1_chr8_2930361_4999914	3928491	TGGAACAG others(4727): Show TGGAACAGGGGGCACTGCCCAGCTGCATTCACAGGTTTCACGGCCGTTTG TAGGCTTCGGTACTGTACTAAGTTCAGATCTACAAGTAGTTCCATCCACC AATATAATAGATGATGTCATAAGAAGGAGAAGGAAGTAATAAGAGTATAC ATGACAATAAAAATGGTTTAAAGAAGGTATAGATTTTTTTTTAAATTGCT CCTGCTCTTTGGATCTATGCTATTTCTTAATATACGTGAATACTTTTGAA CCCATTCTGAAATCAAAGGTGGTCCAGATCCCACCCACCCCGCCCACCCC CGGGCCAGTTCTATGCATTCCCAGCGATTCCACCTACCCCAGGTCATGCT GTCACTATACAAGGGTAGGAGAAATGTCATGGAGCTTTCCACTGTTGCTT ATCAGTGATCTTTCTTTTCGTATACCTGGAATTATTTTATCAACCTGCAA TAAAATGAATGCTGTGGTTTTGTGTGCTAAAACAATTGGTTGTCATTGTA TAAGAAATCTTACCGATTTTTGGTTTCCCTGTAACTCTCAGGGCCATCAG CATTGCCATCTACTAATTGCAGAAAATTAAAAGCACAGAGAATAAAGAAA GACTTGGAGTGAGGAGAGATGAAACTCTGCACATAAGCAAGATGCTTTCT ACTGCCCCCTCTGGAAGGATACACTTAACAAGAGTGCAAGGCTGAGGAAA GCTCTTGCCTCTGCACATGGTTTCTCTTACATAAAGGAGGTGTTTGTCCA TATACACATATGGACAGGATGATTTTCCCCCTACATTCCCTCAATGAGAA ACTCAATGCTGAAATTAAAAACTCATCTTCCAGGTACAAACTGCATACAT AATTTTTAATACTAGACATTATTTGAAAAAGTTCGTGAATGTTCACAGCC AAGGGTGACAATGTAATTTCAACCTTCCCCACATGAGAAGTGGGTCCAAA AGCTGGAGGGGACAGAACAAATCAGCTACAGGTGCTGTCTCTGAAGGACT CTGCAATCTGCATATTGAAATTCAAAGTCAACGTCCATTGGCAGGAACTG GGTTGTCTGTCTATTCTGATGGAATGATTTCATGTTATAAGATAAAAAAT AAATGTGGCTGCATTATTTTGTCTTTAAAAGGAAGAGTATATTGTTTCAA AACATATTTGTATGAATAAAAATACTATTTTTTTTTTTTGAGATGGAGTT TCACTCTGTCTCCCAGGCTGGAGTGCATTGGCACAATCTCGGCTCACTGC AACCTCAGCCTCCTGGATACAAGCAATTCTCCTGTCTCAGCCTCCTGAGT AGCTGGGACTACAGGCACATGCCACCATGCCTGGCTAATTTTTGTGTTTT TAGTAGAGACGCGGTTTCACCATATTGGTCCCGCTCATCTCCAACCCCTG ACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGCGCTGGGATTACAGG CCTCATGTGAGACACTGTGCACAGCCTATATGATTAAATTTTTAAAAACT ATTTTATTGTTAATGCAAGGTTTTCTTCTTACACTGGTTTATATAAAGAT GTCTCTGAGAGGGGGTATGTGTTACCTAGGCATGTTTTTCTTCCTTGGAA GATTATCTTTATTTGGTACTGGGAAAACCTACAAAAGCAGTACCCTACCA TTGTAAATAAGCTCTATTCCAGTGAGAACATCAGTTATACTTGCCGTATC TATTAGATGATGATTCTATACGTGACAAGTAAAGTAGAGGTCCTTCTTCA AAGACTTTCCTCCCCATCTAATTAGGAATAAATAGTAACTTCTCTTAGAA GCAAACTTTATTCAAAGACCTGTGCTAACACTCTTAAATATCTGCCAGCC ATAATAAAGAAATCAATGTATTTTATGTTCTTAGCTCACACAACTTAGCC CTGGCATGCTTATACTGGTCCAAGCAAGCATTAGGTCAAAGCCTGTTCTT CTTCCTTATTTGAAGGTCTTTTTACCTTTCTCACCATTCCACAAGTTACT TCCTCCTTCCTTTGTTCTCCTCTGCCTTTGCCTCTTTTCAAAAGTTCTAA GTTGCTAGCCAATCGGGACAAATACAGAATCTGAGGTCCCGTTCCAGCCA AAGGAAACGGGACACAGCAGTAGGGTGGCCGTGTCAGGTTATAAGTGACC CTGTCTCCTTTGTTCGGTGTACTGTCATGGCAAAACTGCTGGCAAGTGTA CCCTTTCTGCAGAAAGGAAAAAAATGGCCTTGTGAGGAAATTAAATTTAT GTTCAAGTGCTACTTCTTTACGGCACCAGGGAACAAGCATTTCTAACATG TACAAGGGTCAAGATTTCTTATAAATTTGCACTTAAAACAAAATAAAGTA ATAGATATCTTAATAGTTAACTTACATTTTAGTCTAGTTTTAAAACCTAA CAAATGTCACAGAAAAATAATTTACAATGGTTCAATTGTTGCTAGGATTC TTAAAAACCTAAAATACATCAGCAAAAACGCCCTGTGGAATATCATCTTA TTTAAAGGTGTTAACTAGCCATAGTGCTAATTTCCACAGGGAAAATCTTA ACTGCGGTATGATCGCTGAGATAAAGTTTTAAAAATGTGACATCTTTCTT TACATATATCATTAAAGCCTAGGCCGATATTGCAGGGTAACCATAGATAA TTTCAGCTAAACATCGTCTGCATCTTTTAAAGCATCTTCCCCTCATATCC ATTTAGGAAGACACTAAATAAATGAGGTTCGGAGAATGATAATACATTTT GTTAGTTTCTCAGAACGCTCTGCATTTTGAATTGTTAATAAATGGTATTG TGAAATTTTCAAATAAAATATTTAAGAACTAGAAGTCAGCAGAAAAGGGC CACTCTCTCTCCCTCCCTCATTTCTCAGGCTTCTATTTGAATGTCACATT CATTCTTTTACCCATTCTGGGTATTGTGGAAAAAAAAATCTTTCAATCCA TGGCTTTTAAACCTCCTGACAATTCATCAGATTGGAGCATTTTTAAAAGG CATAAAAGCTCATACTTTCTCCAATTTCATTGAATTACAGTAAATTTGTT TAACAAACTTCTTGTGGAGGGAGGTCAGGCAGCAGTCAGTGCCATGAATT GCCTCAAATCATTGCGCCAAGAGTTAGAGACAGAGAAAAGTGCCTCAGGA TGTCTTTTCACCTTGTATAGTTCTAAAAAACAAACAAACAAACAACAAAA GGACTATAGTTTAGAAGAAGGACAGCATTACAAGGCTTTAATCTCAATCC ACACCAGAGGAAACAAGGTGAGCAAGGAGCACCTAAGACCCCACTAAGGA ATATTAAGTGGGCAATGGGACTTCCTATTCAAGCAGAGGACTGGGCTATC TTTAAGGCAGAGTTGCAAAGGGAGAAGTGATTTTGGTTGTCAGACATTGT AGGAAAAGAAACAGAAAAAAAAAAAAGATCACAGAACCCAATTGTAGCTG TAGAATCTAAAAAGGACTTTTTAAAAAATTAAAATAGTATTGATTTAGAT GTAGAAATGGGGGAAAGGAGAAAACAATAATTTTGTGACTTCAGTTCTAA TTTCATCAGAGAGTAGGATTCAATATAAACATATCTATTGGAATGACACA CATCCAGAATAACATTCTTGAAAGTAGATGATTTTATGGCTTATATATTG AGGACAGTGCTGGAATGAAACTCAGATATTCCTAACTGTAGACACTGTTT CATCGATACTTTGGTCCCATATCATGTTACTGAAAAGGGTCAAACTTAAG AGCAGGAAAATCGACGAAAGTAATAGTTGGTTGAGAATTCTCAAGAAGTT TTGTTGCTCAGTTAAACATGTGCTCATGGTCTTTAAACTTTCCCCATTTA TTCTGCGACTAGAGGAATGAATATAGGCACTTGGGTGTTTTGCTATGCCT GCAACATATGCCATCTGCATTGACATTTCTCATGGTATTTCACTCTCATA ACCCAGCCTCAGCACGGTAATAAGACCTTGATATGTAGGACCTTGATGCT AAGTCTAGGGAAAGCAGCAGATGTTAGCCTTATTAAATCAATCAAGCCCC ACAATTAAAGTTCAATGCATTGCAGTCTAATTAGTACTGTGGCTAGTTAA AAATCCACAAACAGTATCATATTTCACCAAACATTTATATTGACATTTTG CATGTTATTAGGGAATTCTCAAAAAGCCGGTCCAATAAACTCATAAGATC GTAATTCATTGTGGTGGACTCTAATGTTAATTGATTAGAAAAAATAGTGT AATGGGATAAACCACTAATAACCATAAAGGTTAATGAAGCTGAGTTTTCA TTTCAATTGGAGATAAAAAGTTACTAATATATTTCTCTTTTTTATGCTAT TGTTATTAGATTTCACTATTGTGTAAAGTTAAATGTTTTTGAATTTTCTA TTCCAATAGCAACACACTTCTATTTAGTAAAGTAACTAAATCTTTTTTAA AAGTGTATGTGAATTTTTAAATTTTTTGCTTTCTAATATCCTGAAAAACT TTTTAAATGTTTAACATTATAGAACAAGTGAAATGTATGATAAAAAAAAA AAACTGCTTGTGGCAAATTATCTCATTAAAAAAAAACAAAAGAAACAACA TTATTTTCCTCTTTATATATCTGGTTTATATATTTTGATTTTTACCAATG TAATACATTTATCTAAAGTCCACCTCCGTGGTAATACCTAGTGAATCTCC ATTTTTTCCAAAACAATTTCTTGTTAAGTAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp2 HG02074.hp1 others(7): Show HG01123.hp2 HG01255.hp2 HG02074.hp1 HG02451.hp1 HG02486.hp2 HG02886.hp2 HG03098.hp2 HG04204.hp2 NA18984.hp2 NA19090.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0001c0049 others(6): Show a0001c0001 a0001c0003 a0001c0049 a0001c0079 a0002c0051 a0002c0070 a0002c0078 a0002c0092 a0011c0110	a0001c0001t0002 a0001c0003t0008 a0001c0003t0013 others(7): Show a0001c0001t0002 a0001c0003t0008 a0001c0003t0013 a0001c0049t0002 a0001c0079t0072 a0002c0051t0006 a0002c0070t0046 a0002c0078t0044 a0002c0092t0001 a0011c0110t0074	a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0013g0026 others(7): Show a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0049t0002g0071 a0001c0079t0072g0113 a0002c0051t0006g0081 a0002c0070t0046g0092 a0002c0078t0044g0064 a0002c0092t0001g0011 a0011c0110t0074g0082	10	126	0.0794	-4734	c.818 others(19): Show c.818+64678_818+69411del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
NBPF10_chr1_146059711_146149804	146114059	CACACAGA others(4727): Show CACACAGAGAGAGAGAGAGAGAACGAGCTCAGTGAATTGTCCAGGTGACG CACTGATGAGGGAGTAACAGGACACTCTGAGTTAGTGCCCTCAGGACACA CAGCATACAGGGATCATGAAAAGACTGTGCTCAATAATTTTCCATAAAAT GTGCTCAAGTTTCCATGCAGTCACCATGAGAATACAGTTTTTGAAGTCTG GTCCACCTACAGTAGGTTAGTAAATGATAAGGGGAGGAAGAAATGGAAAC CTAAATATCTACTGCAATGAAAACCAACAGCAATGTTAGTAGGAATAATT CAGGCTTGGTTGAAAAGATGTAATCGATAATGTCAGCCCGCTCTGTTTTC CCTGAACCAGGAGTCTCCAGATGTCAACACAGAAGTAGCTGTTCACAATT GCTCAGTTACCTGGGGCATGGTGGGTCTTGGTCTTCTTCCTCTTCTTCGT CCTTTTTAATTCCTGCAATACATTCAGACAGGGACAGACAAAATAAGCCA ATTCACCTACACCCATAACAGTCCACTGTCTAATCCCCACACAGGGATCT CAGGCTCCTCAGCATGAGAACAGGACAATGTGAGAGATATACTTCAGGAG GCCTGAAAGCTGGTCATGATATTCTTTGGTTTGCATCTCAGAACCAAGGG TGAAATATCCCCATTCTGGTAGATCGTTATCCCAAAATCATTTATCCCAA GTTTGTGCAAACAGTTATGCTTTATTGTTCCCATCAGTTCAAAGAAAATG CCCCAGATGATTTCCAGGAGGAAAACTGCAGTATTCAGCCCTGTCTCATC AAATGCCCAGCTCGTTCATGGATGCAAGAATTTTAGACACTGAAATTAGA ATGAAGGAGGAAATCTACAAACCCTTCAGTCCAAATCATACTTCTGTGAA TTTTTTACATCTGCCTGGGTCCAACGTGCTGAGAGCGGGCTCAGGTTGCC ACAGGCATGGCTGGAGACTAGGAATAGAGCCTTGCTCACTGACCCATTTC ATGTCTAGGCTTCCAACTGAGACTACAGTTTCATTACAACCTATATGCGC CCATAGGTCCTGCCTGCGGCAATGACGTCTCTCGGGTCAGTAAGGGGCAC TTGGAACAGGAATATCACCCCTATCTGGAAGAACAGGTGGAGGCTTATCA CCTTCACAGTAAGGTACTCACTGTCCACGTCAAGAGCCAAGCCAAGGTAC TGTTCCTCCAATGAGTAAACAGCACTGCTGTAGGGCTGGCCTAAGTCAGG CAGTTCAAGATAACCTGAAGGAGTCGAATAACATCTATCCAGTGAGTCCT GCAAGACTTCAGGCTCTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAA AAGTAGGAAAAAGTAAAGAATAAGTCAGGGGGAATCAGAAACCACACAGC CCCAGCTAGATTTCATGGCTAACATAAGGAACTGTTTAAAAAGAAAAAGG ACAGATCCGTTAATGAGGTAATGAATTATTGCCTTTATGTTGGGATAGAC CAGGGCCAGGTAGAAAAGAATGAAAGAGAAAGACAGGGAGAGGGAGAGAG AGAGAGAGGAGAAAGTGAGCTCAGCGAATTGGCCGGGTGACACACTGATG AAGGGGTCAAAGGACACTCTGAGTTAGTGCCCTCGGGACACACAGCGAAC AGTGATCATGAAAAGAGTGGGCTCAATAATTTTCCATAAACTTGCTCAAG ATTCCATGCAGTTGCCATACAGCCTTTGAGGTATGGTCAACCTATAGTAA GTGAGTAAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGC AATGAAAACCAACAGCAATGTCAGTAGGAGTAATTCAACCTTCGTTGAAA ACATGAAATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGT GTCAACACAGAATTAAGCATCCATAATTGCTCATAGTTACCTGGGGCATG ATGGGTCTTGGTCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAATA AGTTCAGACATGGACAGACATATTAAGCTGGTTCTCCTAAACACACATAA CAATCCACTGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGAG AATAGGACACTGTGAGAGATATTCTTCAGGAGGCATGAAGGCTGATCACC ATAGAGATTCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTAT TCTGGTAGATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGG TTATGCCATATTTTTCCAATCGATTTAAAGGAATTGCCCCCAAATGGTTG CTAGGAGAAAAACTGCACTATTCAGCCCTGTCTCATCAAATACTCAGATT GTTCATGGTAGCGAGGATTTCAGACGCTGAAATTAGAGTGAAGGATGAAA TCTACAAGATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTC ACATCTGCCCAGGTCCAATGTCATGAGAGTAGGATTAGGGCGCCACAGGC ATGGCCTGAGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCT GGGCTTCCAAGTGGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGG TCCTCCCTGTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGT AGGAATATGACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCATA GAAAGGTACTCACCATCCATGTCAACAGCGAAGCCAACACGCTGTTGCTC CAATACATAAAAGGCACTTCTGTAGGGCTGGCATGAGTCAGTCAGTTCAA GACAACCTGAAGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACT TCAGGCCCTTTCTCTTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGGA AAAAGTAAAGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTA GATTTCATGGCTAACGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCC ATTAATGAGGTAACAAATTATTGCCTTTATGTTGGGACAGAACAGGGCCA GGTAGAAAACAATGAAAGAGAAAGACAGACAGAGACAGAGACAGAGACAG AGAGAAAGTGACCTAGTGAATTGGCCAGGTGACATACTGGTAAGGGAGTC AAAGGACACTCTGAGTTAGTGCCCTCATGACACACAGCAAACTGTGATCA TGAAAAGAGTGAGCTCAATAGTTTTCCATAAAATATGCTCAAAATTCGAT GCAGTGGCCATGAGAGTACAGCTTTTGAAGTATGGTCAACCTATGGTACG TTAGGAAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCA ATGAAAACCAACAGCAATGACAGTAGGAGTAATTCAGCCTTCGCTGAAAA CATGTCATCAAACACACTCTGGTTTCCCTGAATCTGTTGCCTCCAGGTGT TAACACAGAATTAAGCATCCACAATTGCTGAAAGTCACCTGGGGCATGGT GGGTTTTGATCTTCTTCCCCTTCTTTTCTTCCCCTTCTTCTTTCCTTCTT TGATCTTCTTCCCCTTCTTTTCTTCCCCTTCCCCTTCTTTTCAATTTCTG CAATAAATTCAGACATGGACAGACACATTAAGCTGATTCCCCTACACACA TAACAATCCACTGTCTAATCCTCACACAGGGACCTCAGGCTCCTCAGCAT AAGAATAGGACACTGTGAGAGATATATTTCAGGAGGCCTGAAGGCTGGTC ATGACAGAAATTCCTCGGTTTTTCTCCCAGAAACTGTGGGTAAAATGTCC CTATTCTAGTAGATCGTTATCTCAATATCATTTGTCCCAAGTTTGTGCAA ACAGTTACGCCATATTTTTCCAATCAACTTAAAGCAAATACCCTCAAATG ATTTCTAGGAGAAAAACTGCAATATTTAGCCCTGTCTCATCAAATACTCA GATTGTTCATGGTTGTGAGGACTTTAGACACTGAAATTAGAGTGAAAAAG GAAATCTACAAACCCTTGAGTCAAAATCATAGTTCTCTGAATTTGTCACA TCTGCCCAGGTCCAATGTCATGAGAATAGGATCAGGGCGCCACAGGTATG GCCTGAGACTAGGAAGAGAGTCTTGCTCACTGACCCATCCCTTGTCTGGG CTTCCAGGTAGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGTCC TCCCTGTGGCAATGACATCTCTCAGCTCAGTAATGGCCACTTGGAGCAGG AATATGATCTTTATATGGAAGACTCAGTGGATCCTTATCACCTTCATAGA AAGGTACTCACCTCCCACGTCAAGAGAAAAGCCAACATGGTTTTCCTCCA ATGCATAAAAGGAACTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGA CAACTGGAAGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTC AGGCTCTACTACCTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAA AAGTAAAGAATAAGCCAGGGGAAATCAGACACAACAGAGCCCCAACTAGG TTTCATGGGTAGCATAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCA TTAATGAGGTAACAAATTATTGCCTTCATGTTGGGACAGAACAGGGCCAA ATGGAAAAGAATGAAAGAGAAAGACAGATAGACACACACACACACACACA CACACACACACACACACACACACACACACACAGAG	C C	exon_loss_variant exon_loss_variant	HIGH	NA18994.hp2 NA18994.hp2	a0170 a0170	a0170c0155 a0170c0155	a0170c0155t0003 a0170c0155t0003	a0170c0155t0003g0180 a0170c0155t0003g0180	1	283	0.0035	-4734	c.303 others(17): Show c.3036-251_3768-236del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	29/90						chr1	TogoVar
NBPF19_chr1_149470045_149561361	149538465	GTGTGTGT others(4726): Show GTGTGTGTGTGTGTCTATCTGTCTTTCTCTTTCATTCTTTTCCATTTGGC CCTGTTCTGTCCCAACATGAAGGCAATAATTTGTTACCTCATTAATGGAT CTATCCTTTTAGTTTCTTAACCACTTCCCTATGCTACCCATGAAACCTAG TTGGGGCTCTGTTGTGTGTGATTTCCCCTGGCTTATTCTTTACTTTTTCC TCCTTTTCCAGGCTCAGCAGGGAGCTGCTGGAGGTAGTAGAGCCTGAAGT CTTGCAGGACTCACTGGATAGATGTTATTCAACTCCTTCCAGTTGTCTTG AACAGCCTGACTCCTGCCAGCCCTATGGAAGTTCCTTTTATGCATTGGAG GAAAAACATGTTGGCTTTTCTCTTGACGTGGGAGGTGAGTACCTTTCTAT GAAGGTGATAAGCATCCACTGAGTCTTCCATATAAAGATCATATTCCTGC TCCAAGTGGCCATTACTGAGCTGAGAGATGTCATTGCCGCAGTGAGGACC TATAGGCACATGTAGGTTGAATGAAACTCTAGTTCTACCTGGAAGCCCAG ACATGGGATGGGTCAGTGAGCATGGCTCTCTTCCTAGTCTCAGGCCATAC CTGTGGCACTCTGATTCTACTCTCATGACATTGGACCTGGGCAGATGTGA CAAATTCAGAGAACTATGATTTTGACTCAAGGGTTTGCAGATTTCCTTTT TCACTCTAATTTCAGTGTCTAAAGTCCTCACAACCATGAACAATCTGAGT ATTTGATGAGACAGGGCTAAATATTGCAGTTTTTCTCCCAGAAATCATTT GAGGGTATTTGCTTTAAATTGATTGGAAAAATATGGCATAACTGTTTGCA CAAACTTGGGACAAATGATATTGGGATAACGATCTACTAGAATAGGGACA TTTTACCCACAGTTTCTGGGAGAAAAACCGAGGAATTTCTATCATGACCA GCCTTCAGGCCTCCTGAAATATATCTCTCACAGTGTCCTATTCTTATGCT GAGGAGCCTGAGGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGTGT GTAGGGGAATCAGCTTAATGTGTCTGTCCATGTCTGAATTTATTGCAGAA ATTGAAAAGAAGGGGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAGAA GGAAAGAAGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAACCCACCAT GCCCCAGGTGACTTTCAGCAATTGTGGATGCTTAATTCTGTGTTAACACC TGGAGGCAACAGATTCAGAGAAACCAGACTGTGTTTGATGTCATGTTTTC AACGAAGGCTGAATTACTCCTACTGTCATTGCTGTTGGTTTTCATTGCAG TAGATGTTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAACGTAC CATAGGTTGACCATACTTCAAAAGCTGTACTCTCATGGCCACTGCATCGA ATTTTGAGCATATTTTATGGAAAACTATTGAGCTCACTCTTTTCATGATC ACAGTTTGCTGTGTGTCATGAGGGCACTAACTCACAGTGTCCTTTTACTC CCTTACCAGTATGTCACCTGGCCAATTCACTAGGTCACTTTCTCTCTGTC TCTGTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTT TCTCTTTCATTGTTTTCTACCTGGCCCTGTTCTATCCCAACATAAAGGCA ATAATTTGTTACCTCATTAATGGATCTGTCCTTTTTCTTTTCAAACTCTT CCTTAACGTTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCC CCCTGGCTTATTCTTTACTTTTTCCCACTTTTCCAGGCTCAGCAGGGAGC TGCTGGATGAGAAAGGGCCTGAAGTCTTGCAGGACTCACTGGATAGATGT TATTCAACTCCTTCAGGTTGTCTTGAACTGACTGACTCATGCCAGCCCTA CAGAAGTGCCTTTTACATATTGGAGCAACAGTGTGTTGGCTTGGCTGTTG ACATGGATGGTGAGTACCTTTCTATGAAGGTGATAAGGATCCACTGAGTC TTCTGGTTAGGGTCATATTCCTACTGCAAGTGGCCCTTACTGAGCTGAGA GATGTCATTGCCACAGGGAGGACCTATAGGCACATGTAGGTTGAATGAAA CTCTAGTTCCACTTGGCAGCCCAGACAAGGGATGGGTCAGTGAGCAAGGC TCTCTCCCTAGTCTCAGGCCATGCCTGTGGAGCCCTAATCCTACTCTCAT GACACTGGACCTGGGCAGATGTGACAAATTCACACAACTCTGATTTTGTC TCAATTTTGTAGATCTTGTAGATTTCATCCTTCACTCTAATTTCAGCGTC TAAAATCCTCGCTACCATGAACAATCTGAGTATTTGATGAGACAGGGCTG AATAGTGCAGTTTTTCTCCTAGCAACCATTTGGGGGTATTTGCTTTAAAT CGATTGGAAAAATATGGCATAACCATTTGCACAAACTTGGGACAAATGAT ATTGGGATAACGATCTACCAGAATAGGGAATTTTACCCACAGTTTCTGGG ACAAAAACCAAGGAATCTCTATGGTGATCAGCCTTCAGGCCTCCTGAAGA ATATCTCTCACAGTGTCCTATTCTCATGCTGAGGAGCCTGAAGTCCCTGT GTGAGGATTAGACAGTGGATTGTTATGTGTGTAGGAGAACCAGCTTCATA TGTCTGTCCATGTCTGAACTTATTGCAGAAATTGAAAAGTACCAAGAAGT GGAAGAAGACCAAGACCCATCATGCCCCAGGTAACTTTGAGCAATTATGG ATGCTTAATTCTGTGTTGACACCTGGAGATGCCAGGTCCAGGGAAAACAA GAGTGTGTTCAATTTCATGTTTTCAACGAAGGTTGAATTACTCCTACTGA CATGGCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCC TCCCCTTAACATTTACTAACTTACTATAGGTTGACCATACCTCAAAGGCT GTATGGCAACTGCATGGAATCTTGAGCAAGTTTATGGAAAATTATTGAGC CCACTCTTTTCATGATCACTGTTCGCTGTGTGTCCCGAGGGCACTAACTC AGAGTGTCCTTTGACCCCTTCATCAGTGTGTCACCCGGCCAACTCGCTGA GCTCACTTTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTGT CTTTCTCTTTCATTCTTTTCTACCTGGCCCTGGTCTATCCCAACATAAAG GCAATAATTCATTACCTCATTAATGGATCTGTCCTTTTTCTTTTTAAACA GTTCCTTATGTTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATT CCCCCTGGCTTATTCTTTACTTTTTCCTACTTTTCCAGGCTCAGCAGGGA GCTGCTGGCTGAGAAAGAGCCTGAAGTCTTGCAGGACCCACTGGATAGAT GTTATTCGACTCCTTCAGGTTATCTTGAACTGCCTGACTTAGGCCAGCCC TACAGCAGTGCTGTTTACTCATTGGAGGAACAGTACCTTGGCTTGGCTCT TGACGTGGACAGTGAGTACCTTACTATGAAGGTGATAAGCCTCCACCTGG TCTTCCAGATAGGGGTGATATTCCTGTTCCAAGTGGCCCTTACTGACCCG AGAGATGTCATTGCCGCAGGCAGGACCTATGGGCGCATATAGGTTGTAAT GAAACTGTAGTCTCAGTTGGAAGCCTAGACATGAAATGGGTCAGTGAGCA AGGCTCTATTCCTAGTCTCCAGCCATGCCTGTGGCAACCTGAGCCCGCTC TCAGCACATTGGACCCAGGCAGATGTAAAAAATTCACAGAACTATGATTT GGACTCAAGGGTTTGTAGATTTCCTCCTTCATTCTAATTTCAGTGTCTAA AATTCTTACATCCATGAACGAGCTGGGCATTTGATGAGACAGGGCTGAAT ACTGCAGTTTTCCTCCTAGAAATCATCTGGGGCATTTTCTTTGAACTGAT GGGAACAATAAGGCATAACTGTTTGCACAAACTTGGGATAAGTGATTTTG GGATAACGATCTTCCAGAATGGGGATATTTCACCCTTGGTTCTGAGATGC AAACCAAAGAATATCATGACCAGCTTTCAGGCCTCCTGAAGTATATCTCT CACATTGTCCTGTTCTCATGCTGAGGAGCCTGAGATCCCTGTGTGGGGAT TAGACAGTGGACTGTTATGGGTGTAGGTGAATTGGCTTATTTTGTCTGTC CCTGTCTGAATGTATTGCAGGAATTAAAAAGGACCAAGAAGAGGAAGAAG ACCAAGGCCCACCATGCCCCAGGTAACTGAGCAATTGTGAACAGCTACTT CTGTGTTGACATCTGGAGACTCCTGGTTCAGGGAAAACAGAGCGGGCTGA CATTATCGATTACATCTTTTCAAGCAAGCCTGAATTATTCCTACTAACAT TGCTGTTGGTTTTCATTGCAGTAGATATTTAGGTTTCCATTTCTTCCTCC CCTTATCATTTACTAACCTACTGTAGGTGGACCAGACTTCAAAAACTGTA TTCTCATGGCGACTGCATGGAAACTTGAACACATTTTATGGAAAATTATT GAGCACAGTCTTTTCATGATCACTGTATGCTGTGTGTCCTGAGGGCACTA ACTCAGAGTGTCCTGTTACTCCCTCATCAGTGTGTCACCTGGACAATTCA CTGAGCTCGTTCTCTCTCTCTCTGTGTGTGTGTC	G G	exon_loss_variant exon_loss_variant	HIGH	HG01516.hp1 HG01516.hp1	a0162 a0162	a0162c0196 a0162c0196	a0162c0196t0005 a0162c0196t0005	a0162c0196t0005g0213 a0162c0196t0005g0213	1	276	0.0036	-4733	c.881 others(17): Show c.8811-197_9543-202del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	74/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF10_chr1_146059711_146149804	146071516	GACACACA others(4725): Show GACACACACACACACACACACACACACACAAACACACACACACACACAGA GAGAGAGAGAGAGAACGAGCTCAGTGAATTGTCCAGGTGACACACTGATG AGGGAGTAACAGGACACTCTGAGTTAGTGCCCTCAGGACACACAGCATAC AGGGATCATGAAAAGACTGTGCTCAATAATTTTCCATAAAATGTGCTCAA GTTTCCATGCAGTCGCCATGAGAATACAGTTTTTGAAGTCTGGTCCACCT ACAGTAGGTTAGTAAATGATAAGGGGAGGAAGAAATGGAAACCTAAATAT CTACTGCAATGAAAACCAACAGCAATGTTAGTAGGAATAATTCAGGCTTG GTTGAAAAGATGTAATCGATAATGTCAGCCCGCTCTGTTTTCCCTGAACC AGGAGTCTCCAGATGTCAACACAGAAGTAGCTGTTCACAATTGCTCAGTT ACCTGGGGCATGGTGGGCCTTGGTCTTCTTCCTCTTCTTGGTCCTTTTTA ATTCCTGCAATACATTCAGACAGGGACAGACAAAATAAGCCAATTCACCT ACACCCATAACAGTCCACTGTCTAATCCCCACACAGGGATCTCAGGCTCC TCAGCATGAGAACAGGACAATGTGAGAGATATACTTCAGGAGGCCTGAAA GCTGGTCATGATATTCTTTGGTTTACATCTCAGAACCAAGGGTGAAATAT CCCCATTCTGGTAGATCGTTATCCCAAAATCATTTATCCCAAGTTTGTGC AAACAGTTATGCTTTATTGTTCCCATCAGTTCAAAGAAAATGCCCCAGAT GATTTCCAGGAGGAAAACTAAAGTATTCAGCCCTGTCTCATCAAATGCCC AGCTCGTTCATGGATGCAAGAATTTTAGACACTGAAATTAGAATGAAGGA GGAAATCTACAAACCCTTGAGTCCAAATCATACTTCTGTGAATTTTTTAC ATCTGCCTGGGTCCAATGTGCTGAGAGCGGGCTCAGGTTGCCACAGGCAT GGCTGGAGACTAGGAATAGAGCCTTGCTCACTGACCCATTTCATGTCTAG GCTTCCAACTGAGACTACAGTTTCATTACAACCTATATGCGCCCATAGGT CCTGCCTGCGGCAATGACGTCTCTCGGGTCAGTAAGGGGCACTTGGAACA GGAATATCACCCCTATCTGGAAGACCAGGTGGAGGCTTATCACCTTCACA GTAAGGTACTCACTGTCCACGTCAAGAGCCAAGCCAAGGTACTGTTCCTC CAATGAGTAAACAGCACTGCTGTAGGGCTGGCCTAAGTCAGGCAGTTCAA GATAACCTGAAGGAGTCGAATAACATCTATCCAGTGAGTCCTGCAAGACT TCAGGCTCTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTAGGA AAAAGTAAAGAATAAGTCAGGGGGAATCAGAAACCACACAGCCCCAGCTA GATTTCATGGCTAACATAAGGAACTGTTTAAAAAGAAAAAGGACAGATCC ATTAATGAGGTAATGAATTATTGCCTTTATGTTGGGATAGACCAGGGCCA GGTAGAAAAGAATGAAAGAGAAAGACAGGGAGAGGGAGAGAGAGAGAGGG AGGAGAAAGTGAGCTCAGCGAATTGGCCGGGTGACACACTGATGAAGGGG TCAAAGGACACTCTGAGTTAGTGCCCTCGGGACACACAGCGAACAGTGAT CATGAAAAGAGTGGGCTCAATAATTTTCCATAAACTTGCTCAAGATTCCA TGCAGTTGCCATACAGCCTTTGAGGTATGGTCAACCTATAGTAAGTGAGT AAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAA AACCAACAGCAATGTCAGTAGGAGTAATTCAACCTTCGTTGAAAACATGA AATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGTGTCAAC ACAGAATTAAGCATCCATAATTGCTCAAAGTTACCTGGGGCATGATGGGT CTTGGTCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAATAAGTTCA GACATGGACAGACATATTAAGCTGGTTCTCCTACACACATAACAATCCAC TGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGAGAATAGGAC ACTGTGAGAGATAGTCTTCAGGAGGCCTGAAGGCTGATCACCATAGAGAT TCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTATTCTGGTAG ATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGGTTATGCCA TATTTTTCCAATCGATTTAAAGCAAATGCCCCCAAATGGTTGCTAGGAGA AAAACTGCACTATTCAGCCCTGTCTCATCAAATACTCAGATTGTTCATGG TAGTGAGGATTTGAGACGCTGAAATTAGAGTGAAGGATGAAATCTCCAAG ATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTCACATCTGC CCAGATCCAACATCTTGAGAGTAGGATTAGGGCGCCACGGGCATGGCCTG AGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCC AAGTGGAACTAGAGTTTCACTCAACCTACATGTGCCTATAGTTCCTCCCT GTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGTAGGAATAT GACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTA CTCACCATCCATGTCAACAGCCAAGCCAACATGCTGTTGCTCCAATACAT AAAAGGCACTTCTGTAGGGCTGGCATGAGTCAGTCAGTTCAAGATAACCT GAAGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCCC TTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGGAAAAAGTAA AGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCAT GGCTAACGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCCATTAATGA GGTAACAAATTATTGCCTTTATGTTGGGACAGAACAGGGCCAGGTAGAAA ACAATGAAAGAGAAAGACAGACAGAGACAGAGACAGAGACAGAGAGAAAG TGACCTAGTGAATTGGCCAGGTGACATACTGGTAAGGGAGTCAAAGGACA CTCTGAGTTAGTGCCCTCATGACACACAGCAAACTGTGATCATGAAAAGA GTGAGCTCAATAGTTTTCCATAAAATACGCTCAAAATTCGATGCAGTGGC CATGAGAGTACAGCTTTTGAAGTATGGTCAACCTATGGTACGTTAGGAAA TGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAAAAC CAACAGCAATGACAGTAGGAGTAATTCAGCCTTCGCTGAAAACATGTCAT CAAACACACTCTGGTTTCCCTGAATCTGTTGTCTCCAGGTGTTAACACAG AATTAAGCATCCACAATTGCTGAAAGTCACCTGGGGCATGGTGGGTTTTG ATCTTCTTCCCCTTCTTTTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTC TTCCCCTTCTTTTCTTCCCCTTCCCCTTCTTTTCAATTTCTGCAATAAAT TCAGACATGGACAGACACATTAAGCTGATTCCCCTACACACATAACAATC CACTGTCTAATCCTCACACAGGGACCTCAGGCTCCTCAGCATAAGAATAG GACACTGTGAGAGATATATTTCAGGAGGCCTGAAGGCTGGTCATGATAGA AATTCCTCGGTTTTTCTCCCAGAAACTGTGGGTAAAATGTCCCTATTCTA GTAGATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAACAGTTAT GCCATATTTTTCCAATCAACTTAAAGCAAATACCCTCAAATGATTTCTAG GAGAAAAACTGCAATATTTAGCCCTGTCTCATCAAATACTCAGATTGTTC ATGGTTGTGAGGACTTTAGACACTGAAATTAGAGTGAAAAAGGAAATCTA CAAACCCTTGAGTCAAAATCATAGTTCTCTGAATTTGTCACATCTGCCCA GGCCCAATGTCATGAGAATAGGATCAGGGCGCCACAGGTATGGCCTGAGA CTAGGAAGAGAGTCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCCAGG TAGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGTCCTCCCTGTG GCAATGACATCTCTCAGCTCAGTAATGGCCACTTGGAGCAGGAATATGAT CTTTATATGGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTACT CACCTCCCACGTCAAGAGAAAAGCCAACATGTTTTTCCTCCAATGCATAA AAGGAACTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGACAACTGGA AGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTA CTACCTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAG AATAAGCCAGGGGAAATCAGACACAACAGAGCCCCAACTAGGTTTCATGG GTAGCATAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCATTAATGAG GTAACAAATTATTGCCTTCATGTTGGGACAGAACAGGGCCAAATGGAAAA GAATGAAAGAGAAAGACAGATAGACACACACAC	G G	exon_loss_variant exon_loss_variant	HIGH	HG03688.hp2 HG03688.hp2	a0041 a0041	a0041c0027 a0041c0027	a0041c0027t0014 a0041c0027t0014	a0041c0027t0014g0242 a0041c0027t0014g0242	1	283	0.0035	-4732	c.962 others(18): Show c.9624-207_10356-198del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	83/90						chr1	TogoVar
PDE6B_chr4_620573_675782	643743	TTAGGCTT others(4725): Show TTAGGCTTAATTTGAAGTTCTTTTTCTAGTTTCTTAAGCTTTGAGTGTTG ATTTAGATCTTTCTTCTTGTTTATTATGTGCATTCAATACTATAAATTTC CCTCCAAGCACTGCTTTCCCTGCACCTGACAAATTCTGACAGGTTGTATA TTTTTATTCTTATTTAGTTCAAAATCTTTTTTTTTTTTTTTTTTTTTGAG GGAGTCTCGCTCTGTAGCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTC ACTGCAACCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGAACTACAGACACACACCACCACACCCAACTAATTTTTGC ATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATC TCTCGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGTGCCCCTAGTTCAAAATCTTTTAAAAGGTCTCTTC AGACTCTGGCCCATCTGTTATTTGGAAGTGTGTTGTTAAATCCATTTTAA ATTTTTCAGCTATATTTCTGTTATTGATTTCTAATTTAATTGCACTATGG TATAAGAACATATTTTTCATTATTTTTATTTTCAAAATTTTGTTAAGATG TGTTTTATGGCCTAGAATGTGGTTTATCTTGCTGTATGCTCCACGTGACC TTGAGAAGAATGGGTATTGTGCTGTTGGTGGATGAGGTAAATTATAGATG TCAATTATGTCCATTCGAATAACAGTGTTTTTGTTTTTTTTATTTTTATT TTTTTGAGACAGATTCTTTCTCTGTTGCCCAGGCTGGAGCGCAGTGGTGT GATCTCAGCTCACTGCAACCTCCACCTCGTGGATTCAGGTGATTCTCCCG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACGCCACCACGCCCAC CTACTTTTTATATTTTTAGTAGAGACGGGATTTCCCCATGTTGCCCAGGT TGGTCTCGAACTCCCAGCCTCAGATGATCCGCCCACCTCGGCCTCCCAAA GTGCTGGGATGACAGGCGTGAGCCACCATGCCCGGCCCACAGTGTTGTTT AGTTCAGCAATGTCCTTACTGAGCCTCTGCCTGCTGGATGTGCTCATTCT GATAGAGGGTACTAAGTCTCCAACAGTAGTGGAGGATGCGTCTCTCCTTA CAGCTCCATCAGCTTTTGCTTCATGTGTTTCGAAGCTTTGTTATTAGATG TGTGAACATGAATGATTTTTATGTCTTCATAGAGAAACAACCCCTTTATC ATGTTGTCATGCCCCTTCCACCAACAATTTTCCTTGTTCTAAAGTACTCT TTGTCTAAATTAATATAGCTACCCCAGTGTCTTTGGATTATTATTAGCAT AGCATATATTTCTTCATTCCTTACTTTTAAACTATGTGTGTCTTTATACT TACAGTGGGTTTTTTATAGACAACATATATAGGGTCAGGTCTTAGTTCTT TTTATCCGCTCTGAAAATCTGTCAAGTGGTGTATTTAGGCTAGTCACATT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACGTCCCAGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCAGGCTAGTCACATTTAAAGTGATTATTGATATAGTTGGATTAATATAT ACCATATTCTTAAACATTTTCTCTGTGTTGCACTTACTCTTTATTATTAT CATCCCCTCTTTTTTTCTGCCTTCTCTGGTTTTAATTGAACGTCTTATCC CACACTCTCTCCTCTCTTAGCTTATCAGTTATACTTGTTTTTCCAAAAAA TTTTAGCATTTCCCCAGAATTTGCAATAATCATTTATGACTACTCTAAGC CCTCTTCCAAATAGCATTATACTGCTTCACTTAGAGTGTGGCTATCTTAC CACAATGTACCTACAACTTCTCACTTCCACCCTTATAAAATTTCTGCCAT TTATTTTACTTATCCACGTGCTATAATCATGTAATACACTGTTACTATTA TTACTTTGAACAAATAGCTATTATTAGAGAAATTAAGAAAAAGAAAATAT GTTGCTTTCCTGTCATTTATTTATTTTCTGCTGCTCTTCCTTTTTTCACG CATATGCAAGTTTCTGATCTATCTCATTCTTCCTGTTTCCAAGGAACTTC TTTGAACATTTTCTGCTGGGCAAGTCCACTGGTAACACATTCCTCAGTTT CTGTTTATCTGAGAAAGTCTTTATTTCTCCTTCACTTCTTAAGGATAATT TTACTGTATACAGAATTATAAGTTAGCACATTTTTTTCTCAACACTTCCA ATACTTCACTCTCCTCTTGCTCGCATCGTTTCTGATGAGATGTTTCCAAC GTCTCGTTCCACTCTTGGTCAGATGTTCCCCCACCCCCAGCTTCCCTCGA GGTTTTCAGCTTGGTTGTCTGCAGTTTGAATATGACGTGCCTTAGGATCA GTTTTTTGGCATTTGTCTTTTTTGACAGTCACTGAGCATCCTAGACGCGC GGTTTGGTGTCTGTCAATACTTTTGGAAAATCTCAGCCATTATTACTTCC AACATGTCTTCTCCTTCGCTCTTTCTGCTCCTTCCGGCACCCGCCGCCCA CTCGCACCTTCTGTATTTGTCTCTCTGCTCCGCTCGCTCCGCTCGTGGTT CCCTCTGCGTTTCTGTGTTCGCGCTCCCGGCCCCCTTCCTCAGACACGCG CAGCCTCCGGCCGGGCGGCGGCGCACTGCGTTTCCACCTCGCATTTCCTG TACTCCAGCGCGCCTTGTCCTTCCCAGAGCGTCCATCTCTTTGCTTATGT TACCATCTGCTCCGGTGCGCTGCCTCCGTTTTCTAGTAGCGCCTTTAGCA TATTGATCATCATAATTTTCCTTTTTTTTTTTTGAGACATTGTCTTGCTC TGTGGCCCTGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAGCCGC CGCTTCCTGGGTTCCAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GATTACAGGTGCCCACCACCGCGGCCCGGCTAATTTTTGTATTTTTAGTA GAGATGAGTGTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCA GTTGAACTGCCCGCCTCAGCCTCCCAAAGCACTAGAATTACAGGCATGCG CCACCTCGCCTGGCCTGATCATAGTAATTTTAAATTCCCAGTCTGATAAT TCCCAACTTCGTGTCACATCTGAGTCTGGTTCTGAGGCTTGCTTTGCCTT TTTGGACTGTTGCTTTTTCTTGCCTTTTAGCATGACTTATAATTTTTGGC CAAAGCAGGGACTGGGGCAAATCAGCCTTGAGTGTGGGATTTGGGGTCCA TCTGGCCGGGAGCTGGGCTGTATTGAATGAACATTTGCTGCAGCTGAGGG TGACAGCAGCTTCCGCGCCCTTGTTTATGGTTTGTTTTTGCTTCTGTATT AGCTTGAGCTGCCATAACAAAATACCACACACCGAGCACCTGAGACAGTG GGCATTCGTTTCTGACACTTCTGGAGGCTGTGAAGTTCCAGATGAAGGTG CTGACCAGGTTCCATTTCTGGCGAGGGCTCTCTCCCTGGCTTGCTGTGTC CTCGTCCCATAAGGGCACGTCTCGTAGGGGCCCCAGGCTCGTGACCTCAC CTAACCCTAATCATCCCCCAGGGCCCCACCTCCACTCACCATCGCATCTC GGGTGAGGGCTTCACAGATGCATGGGGGGAGGGGCACGCAATCTAGTACA CAGCGGGAACCACCCAGCAACAGACCTCAGTTTTAAAAGTGTGGCTCTGG CCAGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGG CGCGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAAATGG TGAAACCCCATCTCTAGTAAAAAATACAAAAAATTAGCTGGGCGTGGTGG TGCATGCCTATAACCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATTGCT TGAACCCGGGAGGCAGAGGTAGCAGTGAGCCAAGATCGCGCCACTGCACT TTAGCCTGGGCAACAAGAGCAAAACTCCATCTCGAAAAAAAAAAGAAAGA AAGAGCCAAGAGTCAGGCGTATTTGCCCGTTCTGTTGTCTGGTCACCCCA GCCCTAAACCAGGCAACAAGTGAATTACCAACACCTAGGAAACTCCTTGT TTCCAGCCTCTCAGTCTGCAGGCATGTGGAGACCAGCTCAAGGTTCTAAC ACGTGACCTTGTGTCTCCATGTGAGACTTTCGATTTTGCACCAGACATTG CCCAGTCCTAGGAAAAGCTGTTTCTGGGTCTTGCCCTCCGAACGGCATTT TTAGGCATCCTGACTTGCAGGAGGCACAGGCCTGCCTCACGGCTCTTTTT GAAAATAAAAGTTTGTGATGAGCAAAGATTGGCCCCCGCAGTCCGCCCAA CGCCTGCACTTCGTCTGCCTCCTCCTTGAGCTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp1 HG02630.hp2 NA19240.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0266 a0005c0011t0001g0267 a0005c0011t0001g0266 a0005c0011t0001g0267	2	308	0.0065	-4732	c.711 others(17): Show c.711+7776_712-5376del		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
NBPF19_chr1_149470045_149561361	149524214	GTGTGTGT others(4724): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATCTGTCTTTCTCT TTCATTCTTTTCCATTTGGCCCTGTTCTGTCCCAACATGAAGGCAATAAT TTGTTACCTCATTAATGGATCTATCCTTTTAGTTTCTTAACCACTTCCCT ATGCTACCCATGAAACCTAGTTGGGGCTCTGTTGTGTGTGATTTCCCCTG GCTTATTCTTTACTTTTTCCTCCTTTTCCAGGCTCAGCAGGGAGCTGCTG GAGGTAGTAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTC AACTCCTTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAGCCCTATGGAA GTTCCTTTTATGCATTGGAGGAAAAACATGTTGGCTTTTCTCTTGACGTG GGAGGTGAGTACCTTTCTATGAAGGTGATAAGCATCCACTGAGTCTTCCA TATAAAGATCATATTCCTGCTCCAAGTGGCCATTACTGAGCTGAGAGATG TCATTGCCGCAGTGAGGACCTATAGGCACATGTAGGTTGAATGAAACTCT AGTTCTACCTGGAAGCCCAGACATGGGATGGGTCAGTGAGCATGGCTCTC TTCCTAGTCTCAGGCCATACCTGTGGCACTCTGATTCTACTCTCATGACA TTGGACCTGGGCAGATGTGACAAATTCAGAGAACTATGATTTTGACTCAA GGGTTTGCAGATTTCCTTTTTCACTCTAATTTCAGTGTCTAAAGTCCTCA CAACCATGAACAATCTGAGTATTTGATGAGACAGGGCTAAATATTGCAGT TTTTCTCCCAGAAATCATTTGAGGGTATTTGCTTTAAATTGATTGGAAAA ATATGGCATAACTGTTTGCACAAACTTGGGACAAATGATATTGGGATAAC GATCTACTAGAATAGGGACATTTTACCCACAGTTTCTGGGAGAAAAACCG AGGAATTTCTATCATGACCAGCCTTCAGGCCTCCTGAAATATATCTCTCA CAGTGTCCTATTCTTATGCTGAGGAGCCTGAGGTCCCTGTGTGAGGATTA GACAGTGGATTGTTATGTGTGTAGGGGAATCAGCTTAATGTGTCTGTCCA TGTCTGAATTTATTGCAGAAATTGAAAAGAAGGGGAAGGGGAAGAAAAGA AGGGGAAGAAGATCAAAGAAGGAAAGAAGAAGGGGAAGAAAAGAAGGGGA AGAAGATCAAAACCCACCATGCCCCAGGTGACTTTCAGCAATTGTGGATG CTTAATTCTGTGTTAACACCTGGAGGCAACAGATTCAGGGAAACCAGAGT GTGTTTGATGTCATGTTTTCAACGAAGGCTGAATTACTCCTACTGTCATT GCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCC CTTATCATTTACTAACGTACCATAGGTTGACCATACTTCAAAAGCTGTAC TCTCATGGCCACTGCATCGAATTTTGAGCATATTTTATGGAAAACTATTG AGCTCACTCTTTTCATGATCACAGTTTGCTGTGTGTCATGAGGGCACTAA CTCAGAGTGTCCTTTTACTCCCTTACCAGTATGTCACCTGGCCAATTCAC TAGGTCACTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTGTC TCTCTCTCTCTCTCTGTCTTTCTCTTTCATTGTTTTCTACCTGGCCCTGT TCTATCCCAACATAAAGGCAATAATTTGTTACCTCATTAATGGATCTGTC CTTTTTCTTTTCAAACTCTTCCTTAACGTTAGCCATGAAATCTAGCTGGG GCTGTGTGGTTTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCCACTT TTCCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGGGCCTGAAGTCTTGC AGGACTCACTGGATAGATGTTATTCAACTCCTTCAGGTTGTCTTGAACTG ACTGACTCATGCCAGCCCTACAGAAGTGCCTTTTACATATTGGAGCAACA GTGTGTTGGCTTGGCTGTTGACATGGATGGTGAGTACCTTTCTATGAAGG TGATAAGGATCCACTGAGTCTTCTGGTTAGGGTCATATTCCTACTGCAAG TGGCCCTTACTGAGCTGAGAGATGTCATTGCCACAGGGAGGACCTATAGG CACATGTAGGTTGAATGAAACTCTAGTTCCACTTGGCAGCCCAGACAAGG GATGGGTCAGTGAGCAAGGCTCTCTCCCTAGTCTCAGGCCATGCCTGTGG CGCCCTAATCCTACTCTCATGACATTGGACCTGGGCAGATGTGACAAATT CACACAACTCTGATTTTGTCTCAATTTTGTAGATCTTGTAGATTTCATCC TTCACTCTAATTTCAGCGTCTAAAATCCTCGCTACCATGAACAATCTGAG TATTTGATGAGACAGGGCTGAATAGTGCAGTTTTTCTCCTAGCAACCATT TGGGGGTATTTGCTTTAAATCGATTGGAAAAATATGGCATAACCATTTGC ACAAACTTGGGACAAATGATATTGGGATAACGATCTACCAGAATAGGGAA TTTTACCCACAGTTTCTGGGACAAAAACCAAGGAATCTCTATGGTGATCA GCCTTCAGGCCTCCTGAAGAATATCTCTCACAGTGTCCTATTCTCATGCT GAGGAGCCTGAAGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGTGT GTAGGAGAACCAGCTTCATATGTCTGTCCATGTCTGAACTTATTGCAGAA ATTGAAAAGTACCAAGAAGTGGAAGAAGACCAAGACCCATCATGCCCCAG GTAACTTTGAGCAATTATGGATGCTTAATTCTGTGTTGACACCTGGAGAT GCCAGGTCCAGGGAAAACAAGAGTGTGTTCAATTTCATGTTTTCAACGAA GGTTGAATTACTCCTACTGACATGGCTGTTGGTTTTCATTGCAGTAGATG TTTAGGTTTCCATTTCTTCCTCCCCTTAACATTTACTAACTTACTATAGG TTGACCATACCTCAAAGGCTGTATGGCAACTGCATGGAATCTTGAGCAAG TTTATGGAAAATTATTGAGCCCACTCTTTTCATGATCACTGTTCGCTGTG TGTCCCGAGGGCACTAACTCAGAGTGTCCTTTGACCCCTTCATCAGTGTG TCACCCGGCCAACTCGCTGAGCTCACTTTCTCCTCTCTCTCTCTCTCTCT CCCTCTCCCTGTCTTTCTCTTTCATTCTTTTCTACCTGGCCCTGGTCTAT CCCAACATAAAGGCAATAATTCATTACCTCATTAATGGATCTGTCCTTTT TCTTTTTAAACAGTTCCTTATGTTAGCCATGAAATCTAGCTGGGGCTGTG TGGTTTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCTACTTTTCCAG GCTCAGCAGGGAGCTGCTGGATGAGAAAGAGCCTGAAGTCTTGCAGGACT CACTGGATAGATGTTATTCGACTCCTTCAGGTTATCTTGAACTGCCTGAC TTAGGCCAGCCCTACAGCAGTGCTGTTTACTCATTGGAGGAACAGTACCT TGGCTTGGCTCTTGACGTGGACAGTGAGTACCTTACTATGAAGGTGATAA GCCTCCACCTGGTCTTCCAGATAGGGGTGATATTCCTGTTCCAAGTGGCC CTTACTGACCCGAGAGATGTCATTGCCGCAGGCAGGACCTATGGGCGCAT ATAGGTTGTAATGAAACTGTAGTCTCAGTTGGAAGCCTAGACATGAAATG GGTCAGTGAGCAAGGCTCTATTCCTAGTCTCCAGCCATGCCTGTGGCAAC CTGAGCCCGCTCTCAGCACATTGGACCCAGGCAGATGCAAAAAATTCACA GAACTATGATTTGGACTCAAGGGTTTGTGGATTTCCTCCTTCATTCTAAT TTCAGTGTCTAAAATTCTTGCATCCATGAACGAGCTGGGCATTTGATGAG ACAGGGCTGAATACTGCAGTTTTCCTCCTAGAAATCATCTGGGGCATTTT CTTTGAACTGATGGGAACAATAAGGCATAACTGTTTGCACAAACTTGGGA TAAGTGATTTTGGGATAACGATCTACCAGAATGGGGATATTTCACCCTTG GTTCTGAGATGCAAACCAAAGAATATCATGACCAGCTTTCAGGCCTCCTG AAGTATATCTCTCACATTGTCCTGTTCTCATGCTGAGGAGCCTGAGATCC CTGTGTGGGGATTAGACAGTGGACTGTTATGGGTGTAGGTGAATTGGCTT ATTTTGTCTGTCCCTGTCTGAATGTATTGCAGGAATTAAAAAGGACCAAG AAGAGGAAGAAGACCAAGGCCCACCATGCCCCAGGTAACTGAGCAATTGT GAACAGCTACTTCTGTGTTGACATCTGGAGACTCCTGGTTCAGGGAAAAC AGAGCGGGCTGACATTATCGATTACATCTTTTCAAGCAAGCCTGAATTAT TCCTACTAACATTGCTGTTGGTTTTCATTGCAGTAGATATTTAGGTTTCC ATTTCTTCCTCCCCTTATCATTTACTAACCTACTGTACGTGGACCAGACT TCAAAAACTGTATTCTCATGGCGACTGCGTGGAAACTTGAGCACATTTTA TGGAAAATTATTGAGCACAGTCTTTTCATGATCACTGTATGCTGTGTGTC CTGAGGGCACTAACTCAGAGTGTCCTGTTACTCCCTCATCAGTGTGTCAC CTGGACAATTCACTGAGCTCGTTCTCTCTCTC	G G	exon_loss_variant exon_loss_variant	HIGH	HG02738.hp1 NA18747.hp2 HG02738.hp1 NA18747.hp2	a0049 a0184 a0049 a0184	a0049c0082 a0184c0042 a0049c0082 a0184c0042	a0049c0082t0011 a0184c0042t0002 a0049c0082t0011 a0184c0042t0002	a0049c0082t0011g0096 a0184c0042t0002g0236 a0049c0082t0011g0096 a0184c0042t0002g0236	2	276	0.0073	-4731	c.661 others(17): Show c.6615-199_7347-198del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	56/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF19_chr1_149470045_149561361	149538467	GTGTGTGT others(4724): Show GTGTGTGTGTGTCTATCTGTCTTTCTCTTTCATTCTTTTCCATTTGGCCC TGTTCTGTCCCAACATGAAGGCAATAATTTGTTACCTCATTAATGGATCT ATCCTTTTAGTTTCTTAACCACTTCCCTATGCTACCCATGAAACCTAGTT GGGGCTCTGTTGTGTGTGATTTCCCCTGGCTTATTCTTTACTTTTTCCTC CTTTTCCAGGCTCAGCAGGGAGCTGCTGGAGGTAGTAGAGCCTGAAGTCT TGCAGGACTCACTGGATAGATGTTATTCAACTCCTTCCAGTTGTCTTGAA CAGCCTGACTCCTGCCAGCCCTATGGAAGTTCCTTTTATGCATTGGAGGA AAAACATGTTGGCTTTTCTCTTGACGTGGGAGGTGAGTACCTTTCTATGA AGGTGATAAGCATCCACTGAGTCTTCCATATAAAGATCATATTCCTGCTC CAAGTGGCCATTACTGAGCTGAGAGATGTCATTGCCGCAGTGAGGACCTA TAGGCACATGTAGGTTGAATGAAACTCTAGTTCTACCTGGAAGCCCAGAC ATGGGATGGGTCAGTGAGCATGGCTCTCTTCCTAGTCTCAGGCCATACCT GTGGCACTCTGATTCTACTCTCATGACATTGGACCTGGGCAGATGTGACA AATTCAGAGAACTATGATTTTGACTCAAGGGTTTGCAGATTTCCTTTTTC ACTCTAATTTCAGTGTCTAAAGTCCTCACAACCATGAACAATCTGAGTAT TTGATGAGACAGGGCTAAATATTGCAGTTTTTCTCCCAGAAATCATTTGA GGGTATTTGCTTTAAATTGATTGGAAAAATATGGCATAACTGTTTGCACA AACTTGGGACAAATGATATTGGGATAACGATCTACTAGAATAGGGACATT TTACCCACAGTTTCTGGGAGAAAAACCGAGGAATTTCTATCATGACCAGC CTTCAGGCCTCCTGAAATATATCTCTCACAGTGTCCTATTCTTATGCTGA GGAGCCTGAGGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGTGTGT AGGGGAATCAGCTTAATGTGTCTGTCCATGTCTGAATTTATTGCAGAAAT TGAAAAGAAGGGGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAGAAGG AAAGAAGAAGGGGAAGAAAAGAAGGGGAAGAAGATCAAAACCCACCATGC CCCAGGTGACTTTCAGCAATTGTGGATGCTTAATTCTGTGTTAACACCTG GAGGCAACAGATTCAGAGAAACCAGACTGTGTTTGATGTCATGTTTTCAA CGAAGGCTGAATTACTCCTACTGTCATTGCTGTTGGTTTTCATTGCAGTA GATGTTTAGGTTTCCATTTCTTCCTCCCCTTATCATTTACTAACGTACCA TAGGTTGACCATACTTCAAAAGCTGTACTCTCATGGCCACTGCATCGAAT TTTGAGCATATTTTATGGAAAACTATTGAGCTCACTCTTTTCATGATCAC AGTTTGCTGTGTGTCATGAGGGCACTAACTCACAGTGTCCTTTTACTCCC TTACCAGTATGTCACCTGGCCAATTCACTAGGTCACTTTCTCTCTGTCTC TGTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTTTC TCTTTCATTGTTTTCTACCTGGCCCTGTTCTATCCCAACATAAAGGCAAT AATTTGTTACCTCATTAATGGATCTGTCCTTTTTCTTTTCAAACTCTTCC TTAACGTTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCCCC CTGGCTTATTCTTTACTTTTTCCCACTTTTCCAGGCTCAGCAGGGAGCTG CTGGATGAGAAAGGGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTA TTCAACTCCTTCAGGTTGTCTTGAACTGACTGACTCATGCCAGCCCTACA GAAGTGCCTTTTACATATTGGAGCAACAGTGTGTTGGCTTGGCTGTTGAC ATGGATGGTGAGTACCTTTCTATGAAGGTGATAAGGATCCACTGAGTCTT CTGGTTAGGGTCATATTCCTACTGCAAGTGGCCCTTACTGAGCTGAGAGA TGTCATTGCCACAGGGAGGACCTATAGGCACATGTAGGTTGAATGAAACT CTAGTTCCACTTGGCAGCCCAGACAAGGGATGGGTCAGTGAGCAAGGCTC TCTCCCTAGTCTCAGGCCATGCCTGTGGAGCCCTAATCCTACTCTCATGA CACTGGACCTGGGCAGATGTGACAAATTCACACAACTCTGATTTTGTCTC AATTTTGTAGATCTTGTAGATTTCATCCTTCACTCTAATTTCAGCGTCTA AAATCCTCGCTACCATGAACAATCTGAGTATTTGATGAGACAGGGCTGAA TAGTGCAGTTTTTCTCCTAGCAACCATTTGGGGGTATTTGCTTTAAATCG ATTGGAAAAATATGGCATAACCATTTGCACAAACTTGGGACAAATGATAT TGGGATAACGATCTACCAGAATAGGGAATTTTACCCACAGTTTCTGGGAC AAAAACCAAGGAATCTCTATGGTGATCAGCCTTCAGGCCTCCTGAAGAAT ATCTCTCACAGTGTCCTATTCTCATGCTGAGGAGCCTGAAGTCCCTGTGT GAGGATTAGACAGTGGATTGTTATGTGTGTAGGAGAACCAGCTTCATATG TCTGTCCATGTCTGAACTTATTGCAGAAATTGAAAAGTACCAAGAAGTGG AAGAAGACCAAGACCCATCATGCCCCAGGTAACTTTGAGCAATTATGGAT GCTTAATTCTGTGTTGACACCTGGAGATGCCAGGTCCAGGGAAAACAAGA GTGTGTTCAATTTCATGTTTTCAACGAAGGTTGAATTACTCCTACTGACA TGGCTGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTC CCCTTAACATTTACTAACTTACTATAGGTTGACCATACCTCAAAGGCTGT ATGGCAACTGCATGGAATCTTGAGCAAGTTTATGGAAAATTATTGAGCCC ACTCTTTTCATGATCACTGTTCGCTGTGTGTCCCGAGGGCACTAACTCAG AGTGTCCTTTGACCCCTTCATCAGTGTGTCACCCGGCCAACTCGCTGAGC TCACTTTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTGTCT TTCTCTTTCATTCTTTTCTACCTGGCCCTGGTCTATCCCAACATAAAGGC AATAATTCATTACCTCATTAATGGATCTGTCCTTTTTCTTTTTAAACAGT TCCTTATGTTAGCCATGAAATCTAGCTGGGGCTGTGTGGTTTCTGATTCC CCCTGGCTTATTCTTTACTTTTTCCTACTTTTCCAGGCTCAGCAGGGAGC TGCTGGCTGAGAAAGAGCCTGAAGTCTTGCAGGACCCACTGGATAGATGT TATTCGACTCCTTCAGGTTATCTTGAACTGCCTGACTTAGGCCAGCCCTA CAGCAGTGCTGTTTACTCATTGGAGGAACAGTACCTTGGCTTGGCTCTTG ACGTGGACAGTGAGTACCTTACTATGAAGGTGATAAGCCTCCACCTGGTC TTCCAGATAGGGGTGATATTCCTGTTCCAAGTGGCCCTTACTGACCCGAG AGATGTCATTGCCGCAGGCAGGACCTATGGGCGCATATAGGTTGTAATGA AACTGTAGTCTCAGTTGGAAGCCTAGACATGAAATGGGTCAGTGAGCAAG GCTCTATTCCTAGTCTCCAGCCATGCCTGTGGCAACCTGAGCCCGCTCTC AGCACATTGGACCCAGGCAGATGTAAAAAATTCACAGAACTATGATTTGG ACTCAAGGGTTTGTAGATTTCCTCCTTCATTCTAATTTCAGTGTCTAAAA TTCTTACATCCATGAACGAGCTGGGCATTTGATGAGACAGGGCTGAATAC TGCAGTTTTCCTCCTAGAAATCATCTGGGGCATTTTCTTTGAACTGATGG GAACAATAAGGCATAACTGTTTGCACAAACTTGGGATAAGTGATTTTGGG ATAACGATCTTCCAGAATGGGGATATTTCACCCTTGGTTCTGAGATGCAA ACCAAAGAATATCATGACCAGCTTTCAGGCCTCCTGAAGTATATCTCTCA CATTGTCCTGTTCTCATGCTGAGGAGCCTGAGATCCCTGTGTGGGGATTA GACAGTGGACTGTTATGGGTGTAGGTGAATTGGCTTATTTTGTCTGTCCC TGTCTGAATGTATTGCAGGAATTAAAAAGGACCAAGAAGAGGAAGAAGAC CAAGGCCCACCATGCCCCAGGTAACTGAGCAATTGTGAACAGCTACTTCT GTGTTGACATCTGGAGACTCCTGGTTCAGGGAAAACAGAGCGGGCTGACA TTATCGATTACATCTTTTCAAGCAAGCCTGAATTATTCCTACTAACATTG CTGTTGGTTTTCATTGCAGTAGATATTTAGGTTTCCATTTCTTCCTCCCC TTATCATTTACTAACCTACTGTAGGTGGACCAGACTTCAAAAACTGTATT CTCATGGCGACTGCATGGAAACTTGAACACATTTTATGGAAAATTATTGA GCACAGTCTTTTCATGATCACTGTATGCTGTGTGTCCTGAGGGCACTAAC TCAGAGTGTCCTGTTACTCCCTCATCAGTGTGTCACCTGGACAATTCACT GAGCTCGTTCTCTCTCTCTCTGTGTGTGTGTC	G G	exon_loss_variant exon_loss_variant	HIGH	HG00735.hp2 HG00735.hp2	a0161 a0161	a0161c0197 a0161c0197	a0161c0197t0005 a0161c0197t0005	a0161c0197t0005g0214 a0161c0197t0005g0214	1	276	0.0036	-4731	c.881 others(17): Show c.8811-197_9543-204del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	74/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF10_chr1_146059711_146149804	146071516	GACACACA others(4723): Show GACACACACACACACACACACACACACACAAACACACACACACACACAGA GAGAGAGAGAGAGAACGAGCTCAGTGAATTGTCCAGGTGACACACTGATG AGGGAGTAACAGGACACTCTGAGTTAGTGCCCTCAGGACACACAGCATAC AGGGATCATGAAAAGACTGTGCTCAATAATTTTCCATAAAATGTGCTCAA GTTTCCATGCAGTCGCCATGAGAATACAGTTTTTGAAGTCTGGTCCACCT ACAGTAGGTTAGTAAATGATAAGGGGAGGAAGAAATGGAAACCTAAATAT CTACTGCAATGAAAACCAACAGCAATGTTAGTAGGAATAATTCAGGCTTG GTTGAAAAGATGTAATCGATAATGTCAGCCCGCTCTGTTTTCCCTGAACC AGGAGTCTCCAGATGTCAACACAGAAGTAGCTGTTCACAATTGCTCAGTT ACCTGGGGCATGGTGGGCCTTGGTCTTCTTCCTCTTCTTGGTCCTTTTTA ATTCCTGCAATACATTCAGACAGGGACAGACAAAATAAGCCAATTCACCT ACACCCATAACAGTCCACTGTCTAATCCCCACACAGGGATCTCAGGCTCC TCAGCATGAGAACAGGACAATGTGAGAGATATACTTCAGGAGGCCTGAAA GCTGGTCATGATATTCTTTGGTTTACATCTCAGAACCAAGGGTGAAATAT CCCCATTCTGGTAGATCGTTATCCCAAAATCATTTATCCCAAGTTTGTGC AAACAGTTATGCTTTATTGTTCCCATCAGTTCAAAGAAAATGCCCCAGAT GATTTCCAGGAGGAAAACTAAAGTATTCAGCCCTGTCTCATCAAATGCCC AGCTCGTTCATGGATGCAAGAATTTTAGACACTGAAATTAGAATGAAGGA GGAAATCTACAAACCCTTGAGTCCAAATCATACTTCTGTGAATTTTTTAC ATCTGCCTGGGTCCAATGTGCTGAGAGCGGGCTCAGGTTGCCACAGGCAT GGCTGGAGACTAGGAATAGAGCCTTGCTCACTGACCCATTTCATGTCTAG GCTTCCAACTGAGACTACAGTTTCATTACAACCTATATGCGCCCATAGGT CCTGCCTGCGGCAATGACGTCTCTCGGGTCAGTAAGGGGCACTTGGAACA GGAATATCACCCCTATCTGGAAGACCAGGTGGAGGCTTATCACCTTCACA GTAAGGTACTCACTGTCCACGTCAAGAGCCAAGCCAAGGTACTGTTCCTC CAATGAGTAAACAGCACTGCTGTAGGGCTGGCCTAAGTCAGGCAGTTCAA GATAACCTGAAGGAGTCGAATAACATCTATCCAGTGAGTCCTGCAAGACT TCAGGCTCTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTAGGA AAAAGTAAAGAATAAGTCAGGGGGAATCAGAAACCACACAGCCCCAGCTA GATTTCATGGCTAACATAAGGAACTGTTTAAAAAGAAAAAGGACAGATCC ATTAATGAGGTAATGAATTATTGCCTTTATGTTGGGATAGACCAGGGCCA GGTAGAAAAGAATGAAAGAGAAAGACAGGGAGAGGGAGAGAGAGAGAGGG AGGAGAAAGTGAGCTCAGCGAATTGGCCGGGTGACACACTGATGAAGGGG TCAAAGGACACTCTGAGTTAGTGCCCTCGGGACACACAGCGAACAGTGAT CATGAAAAGAGTGGGCTCAATAATTTTCCATAAACTTGCTCAAGATTCCA TGCAGTTGCCATACAGCCTTTGAGGTATGGTCAACCTATAGTAAGTGAGT AAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAA AACCAACAGCAATGTCAGTAGGAGTAATTCAACCTTCGTTGAAAACATGA AATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGTGTCAAC ACAGAATTAAGCATCCATAATTGCTCAAAGTTACCTGGGGCATGATGGGT CTTGGTCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAATAAGTTCA GACATGGACAGACATATTAAGCTGGTTCTCCTACACACATAACAATCCAC TGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGAGAATAGGAC ACTGTGAGAGATAGTCTTCAGGAGGCCTGAAGGCTGATCACCATAGAGAT TCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTATTCTGGTAG ATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGGTTATGCCA TATTTTTCCAATCGATTTAAAGCAAATGCCCCCAAATGGTTGCTAGGAGA AAAACTGCACTATTCAGCCCTGTCTCATCAAATACTCAGATTGTTCATGG TAGTGAGGATTTGAGACGCTGAAATTAGAGTGAAGGATGAAATCTCCAAG ATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTCACATCTGC CCAGATCCAACATCTTGAGAGTAGGATTAGGGCGCCACGGGCATGGCCTG AGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCC AAGTGGAACTAGAGTTTCACTCAACCTACATGTGCCTATAGTTCCTCCCT GTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGTAGGAATAT GACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTA CTCACCATCCATGTCAACAGCCAAGCCAACATGCTGTTGCTCCAATACAT AAAAGGCACTTCTGTAGGGCTGGCATGAGTCAGTCAGTTCAAGATAACCT GAAGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCCC TTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGGAAAAAGTAA AGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCAT GGCTAACGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCCATTAATGA GGTAACAAATTATTGCCTTTATGTTGGGACAGAACAGGGCCAGGTAGAAA ACAATGAAAGAGAAAGACAGACAGAGACAGAGACAGAGACAGAGAGAAAG TGACCTAGTGAATTGGCCAGGTGACATACTGGTAAGGGAGTCAAAGGACA CTCTGAGTTAGTGCCCTCATGACACACAGCAAACTGTGATCATGAAAAGA GTGAGCTCAATAGTTTTCCATAAAATACGCTCAAAATTCGATGCAGTGGC CATGAGAGTACAGCTTTTGAAGTATGGTCAACCTATGGTACGTTAGGAAA TGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAAAAC CAACAGCAATGACAGTAGGAGTAATTCAGCCTTCGCTGAAAACATGTCAT CAAACACACTCTGGTTTCCCTGAATCTGTTGTCTCCAGGTGTTAACACAG AATTAAGCATCCACAATTGCTGAAAGTCACCTGGGGCATGGTGGGTTTTG ATCTTCTTCCCCTTCTTTTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTC TTCCCCTTCTTTTCTTCCCCTTCCCCTTCTTTTCAATTTCTGCAATAAAT TCAGACATGGACAGACACATTAAGCTGATTCCCCTACACACATAACAATC CACTGTCTAATCCTCACACAGGGACCTCAGGCTCCTCAGCATAAGAATAG GACACTGTGAGAGATATATTTCAGGAGGCCTGAAGGCTGGTCATGATAGA AATTCCTCGGTTTTTCTCCCAGAAACTGTGGGTAAAATGTCCCTATTCTA GTAGATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAACAGTTAT GCCATATTTTTCCAATCAACTTAAAGCAAATACCCTCAAATGATTTCTAG GAGAAAAACTGCAATATTTAGCCCTGTCTCATCAAATACTCAGATTGTTC ATGGTTGTGAGGACTTTAGACACTGAAATTAGAGTGAAAAAGGAAATCTA CAAACCCTTGAGTCAAAATCATAGTTCTCTGAATTTGTCACATCTGCCCA GGCCCAATGTCATGAGAATAGGATCAGGGCGCCACAGGTATGGCCTGAGA CTAGGAAGAGAGTCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCCAGG TAGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGTCCTCCCTGTG GCAATGACATCTCTCAGCTCAGTAATGGCCACTTGGAGCAGGAATATGAT CTTTATATGGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTACT CACCTCCCACGTCAAGAGAAAAGCCAACATGTTTTTCCTCCAATGCATAA AAGGAACTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGACAACTGGA AGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTA CTACCTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAG AATAAGCCAGGGGAAATCAGACACAACAGAGCCCCAACTAGGTTTCATGG GTAGCATAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCATTAATGAG GTAACAAATTATTGCCTTCATGTTGGGACAGAACAGGGCCAAATGGAAAA GAATGAAAGAGAAAGACAGATAGACACACAC	G G	exon_loss_variant exon_loss_variant	HIGH	HG01243.hp1 HG01243.hp1	a0190 a0190	a0190c0209 a0190c0209	a0190c0209t0013 a0190c0209t0013	a0190c0209t0013g0259 a0190c0209t0013g0259	1	283	0.0035	-4730	c.962 others(18): Show c.9624-205_10356-198del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	83/90						chr1	TogoVar
NBPF10_chr1_146059711_146149804	146078508	ATCCCAAT others(4723): Show ATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGGTTATGCCATATTTT TCCAATCGATTTAAAGCAAATGCCCCCAAATGGCTGCTAGGAGAAAAACT GCACTATTCAGCCCTGTCTCATCAAATACTCAGATTGTTCATGGTAGTGA GGATTTGAGACGCTGAAATTAGAGTGAAGGATGAAATCGACAAGATCTAC AAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTCACATCTGCCCAGAT CCAACATCTTGAGAGTAGGATTAGGGCGCCACGGGCATGGCCTGAGACTA GGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCCAAGTGG AACTAGAGTTTCACTCAACCTACATGTGCCTATAGTTCCTCCCTGTGGCA ATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGTAGGAATATGACCCT AACCAGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTACTCACC ATCCATGTCAACAGCCAAGCCAACATGCTGTTGCTCCAATACATAAAAGG CACTTCTGTAGGGCTGGCATGAGTCAGTCAGTTCAAGACAACCTGAAGGA GTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCCCTTTCTC ATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGGAAAAAGTAAAGAATA AGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCATGGCTAA CGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCCATTAATGAGGTAAC AAATTATTGCCTTTATGTTGGGACAGAACAGGGCCAGGTAGAAAACAATG AAAGAGAAAGACAGACAGAGACAGAGACAGAGACAGAGAGAAAGTGACCT AGTGAATTGGCCAGGTGACATACTGGTAAGGGAGTCAAAGGACACTCTGA GTTAGTGCCCTCATGACACACAGCAAACTGTGATCATGAAAAGAGTGAGC TCAATAGTTTTACATAAAATATGCTCAAAATTCGATGCAGTGGCCATGAG AGTACAGCTTTTGAAGTATGGTCAACCTATGGTACGTTAGGAAATGATAA GGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAAAACCAACAG CAATGACAGTAGGAGTAATTCAGCCTTCGCTGAAAACATGTCATCAAACA CACTCTGGTTTCCCTGAATCTGTTGCCTCCAGGTGTTAACACAGAATTAA GCATCCACAATTGCTGAAAGTCACCTGGGGCATGGTGGGTTTTGATCTTC TTCCCCTTCTTTTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTCTTCCCC TTCTTTTCTTCCCCTTCCCCTTCTTTTCAATTTCTGCAATAAATTCAGAC ATGGACAGACACATTAAGCTGATTCCCCTACACACATAACAATCCACTGT CTAATCCTCACACAGGGACCTCAGGCTCCTCAGCATAAGAATAGGACACT GTGAGAGATATATTTCAGGAGGCCTGAAGGCTGGTCATGATAGAAATTCC TCGGTTTTTCTCCCAGAAACTGTGGGTAAAATGTCCCTATTCTAGTAGAT CGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAACAGTTACGCCATA TTTTTCCAATCAACTTAAAGCAAATACCCTCAAATGATTTCTAGGAGAAA AACTGCAATATTTAGCCCTGTCTCATCAAATACTCAGATTGTTCATGGTT GTGAGGACTTTAGACACTGAAATTAGAGTGAAAAAGGAAATCTACAAACC CTTGAGTCAAAATCATAGTTCTCTGAATTTGTCACATCTGCCCAGGTCCA ATGTCATGAGAATAGGATCAGGGCGCCACAGGTATGGCCTGAGACTAGGA AGAGAGTCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCCAGGTAGAAC TAGAGTTTCATTCAACCTACATGTGCCTATAGGTCCTCCCTGTGGCAATG ACATCTCTCAGCTCAGTAATGGCCACTTGGAGCAGGAATATGATCTTTAT ATGGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTACTCACCTC CCACGTCAAGAGAAAAGCCAACATGTTTTTCCTCCAATGCATAAAAGGAA CTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGACAACTGGAAGGAGT TGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTACTACCT CCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAGAATAAG CCAGGGGAAATCAGACACAACAGAGCCCCAACTAGGTTTCATGGGTAGCA TAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCATTAATGAGGTAACA AATTATTGCCTTCATGTTGGGACAGAACAGGGCCAAATGGAAAAGAATGA AAGAGAAAGACAGATAGACACACACACACACACACACACACACACACACA CACACACACACACACACACACACAGAGAGAGAGAGAGAGAACGAGCTCAG TGAATTGTCCAGGTGACACACTGATGAGGGAGTAACAGGACACTCTGAGT TAGTGCCCTCAGGACACACAGCATACAGGGATCATGAAAAGACTGTGCTC AATAATTTTCCATAAAATGTGCTCAAGTTTCCATGCAGTCGCCATGAGAA TACAGTTTTTGAAGTCTGGTCCACCTACAGTAGGTTAGTAAATGATAAGG GGAGGAAGAAATGGAAACCTAAATATCTACTGCAATGAAAACCAACAGCA ATGTTAGTAGGAATAATTCAGGCTTGGTTGAAAAGATGTAATCGATAATG TCAGCCCGCACTGTTTTCCCTGAACCAGGAGTCTCCAGATGTCAACACAG AAGTAGCTGTTCACAATTGCTCAGTTACCTGGGGCATGGTGGGCCTTGGT CTTCTTCCTCTTCTTGGTCCTTTTTAATTCCTGCAATACATTCAGACAGG GACAGACAAAATAAGCCAATTCACCTACACCCATAACAGTCCACTGTCTA ATCCCCACACAGGGATCTCAGGCTCCTCAGCATGAGAACAGGACAATGTG AGAGATATACTTCAGGAGGCCTGAAAGCTGGTCATGATATTCTTTGGTTT ACATCTCAGAACCAAGGGTGAAATATCCCCATTCTGGTACATCGTTATCC CAAAATCATTTATCCCAAGTTTGTGCAAACAGTTATGCTTTATTGTTCCC ATCAGTTCAAAGAAAATGCCCCAGATGATTTCCAGGAGGAAAACTAAAGT ATTCAGCCCTGTCTCATCAAATGCCCAGCTCGTTCATGGATGCAAGAATT TTAGACACTGAAATTAGAATGAAGGAGGAAATCTACAAACCCTTGAGTCC AAATCATACTTCTGTGAATTTTTTACATCTGCCTGGGTCCAATGTGCTGA GAGCGGGCTCAGGTTGCCACAGGCATGGCTGGAGACTAGGAATAGAGCCT TGCTCACTGACCCATTTCATGTCTAGGCTTCCAACTGAGACTACAGTTTC ATTACAACCTATATGCGCCCATAGGTCCTGCCTGCGGCAATGACGTCTCT CGGGTCAGTAAGGGGCACTTGGAACAGGAATATCACCCCTATCTGGAAGA CCAGGTGGAGGCTTATCACCTTCACAGTAAGGTACTCACTGTCCACGTCA AGAGCCAAGCCAAGGTACTGTTCCTCCAATGAGTAAACAGCACTGCTGTA GGGCTGGCCTAAGTCAGGCAGTTCAAGATAACCTGAAGGAGTCGAATAAC ATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTTTCTCATCCAGCAGC TCCCTGCTGAGCCTGGAAAAGTAGGAAAAAGTAAAGAATAAGTCAGGGGG AATCAGAAACCACACAGCCCCAGCTAGATTTCATGGCTAACATAAGGAAC TGTTTAAAAAGAAAAAGGACAGATCCATTAATGAGGTAATGAATTATTGC CTTTATGTTGGGATAGACCAGGGCCAGGTAGAAAAGAATGAAAGAGAAAG ACAGGGAGAGGGAGAGAGAGAGAGAGGAGAAAGTGAGCTCAGCGAATTGG CCGGGTGACACACTGATGAAGGGGTCAAAGGACACTCTGAGTTAGTGCCC TCGGGACACACAGCGAACAGTGATCATGAAAAGAGTGGGCTCAATAATTT TCCATAAACTTGCTCAAGATTCCATGCAGTTGCCATACAGCCTTTGAGGT ATGGTCAACCTATAGTAAGTGAGTAAATGATAAGGGGAGGAAGAAATGGA AACCTAAACATCTACTGCAATGAAAACCAACAGCAATGTCAGTAGGAGTA ATTCAACCTTCGTTGAAAACATGAAATTGAACACACTCTTGTTTTCCCTG GACCTGGCATCTCCAGGTGTCAACACAGAATTAAGCATCCATAATTGCTC AAAGTTACCTGGGGCATGATGGGTCTTGGTCTTCTTCCACTTCTTGGTAC TTTTCAATTTCTGCAATAAGTTCAGACATGGACAGACATATTAAGCTGGT TCTCCTACACACATAACAATCCACTGTCTAATCCTCACACAGGGACTTCA GGCTCCTCAGCATGAGAATAGGACACTGTGAGAGATAGTCTTCAGGAGGC CTGAAGGCTGATCACCATAGAGATTCCTTGGTTTTTGTCCCAGAAACTGT GGGTAAAATTCCCTATTCTGGTAGATCGTTT	A A	exon_loss_variant exon_loss_variant	HIGH	NA19085.hp1 NA19085.hp1	a0174 a0174	a0174c0221 a0174c0221	a0174c0221t0004 a0174c0221t0004	a0174c0221t0004g0251 a0174c0221t0004g0251	1	283	0.0035	-4730	c.861 others(17): Show c.8615-221_9347-222del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	74/90						chr1	TogoVar
USP17L2_chr8_12131435_12143849	12135448	GTGCAAAA others(4723): Show GTGCAAAAATTGTAATGCTGACGAAAGTGGACATGTTCCCTGAACTAAGA GGGACAGCATTTGGGTGTGTCTTCAGGCTCTCTGGCTTACCAGGAATGAA GATCCTGGCTCTAGGGATTTTCCCAAAATGTCTTAGACAGTAAGGAACAG GGCAGAATTGAGGCCCGGCGCCAAGGCCTCTGGGTGTAAAGAAACAGCCC TGGCTTCAAGGGCTCATGAAATTCGGATGATTTTAAGGAGGATGATGGAA TGAGAGGACTGTGACCTTTGGCCCCGTTTCTTTCCCTTGTCTTTTCATGG GCCAGGTGTGCTCCATCAGAAGGCTTCGTGCGCCTGATGTAAAGTGTCCT GGGGGAAGAAAGGAGCACTGCTTAGAAAGATGCTCCACAGGGAGAAAGAA GCCACCATTTTCAGGAGAATGATCCCCAGAAGCATGAGCAATGCAGATGT CGTGGCTTCACACAAGACGTCGGAGGGTCTTATTCCTGCAGCCGGGACCT GGGCATCGGTGTGCTTTCATGTTCCTAACTGATTTTGAGGGGAGCCCAAT CGATAACCTGTCTGCGAGTCATGCTCATCACACTGTAGTTTTCACACACG TCACACGGAGACCCTGTTCGTATGCACATTTGGGTGCTTGAGCAGGGTTG CGCCCAAGATTCTGTGGTTCTACGGAGCCCTGAGTGGTGCCCTGGGCAGC TTTCCTCTGGGGTTGGTCAACTTTGATCACTGCACCTAACGAGAAAGGGA CCATGAAATCTAATCAGCAAATACAGACAAGCAAGGGGCCATTTCCCACA ATCATTTCCACGGAAACACCACGTCGGATACGTAAGTCTGATTGCAGGAC AGGGACTGTGCTTCAGAGATGCAGCTTTCGCAGCTGGACGAATGACCCGG AATCTCCCCAAATGCCATTTGTAAGCACACCAAATGAGGTTTATTTCAGG GCTTTCTGAATTTATTTCAGTTGAATACACACACTCCTGTGTTTGATTTC CTTTATTATCAATACGACTTATTTCCAAATGACTGACATGCCAGTGGGAA AATTTTCCATTTCGACTCATTGGAATTGGACATCGTGAAACAGGCAAGTC GGTCTGTCTGTTTCCGGCGTTATGTGGGTTCCAGCAAGAGCACAAGTCCC AGGGCGCCTGAGGTCCATTCAGAAACCAATGTAAAAACGGTGAGCCAGGG TAAGAAAGAAGAGCACCGTTCCTATCTTCTAAATGCATTCCAGTTTCCAC TATTCAAGGTGGCGAGAATGATCCATGGATGTGCCACATGAGCAAAATTT CACCTTCTCGTGCCGCCCAACAACTGACGAATGAAACACACCCCAAGAGA AAATAGGAAACCGAGTCCCCTGCAATAACCTCACACTCAAACCTACACGT CAGTAGGTCATATTCAGAAATACACAGTGAATGTCATCTACCATGAACAC AAACACACAGACAGTCTCTCCAGAGGTTCGGAAGACTCACGACCCCAAAA CTTGATGTTTCCCATGTGTGGGCTCATCCTGAGATGCAGCCATCACTATC CAGTTGTCCCTGTTGTAGAGACAGAAACTTGGACTCCTCATTACTTTATG TAGGATTGACGGTGTTCGTGTTTGTGTGTGTGTGTGTGTTTGCGTGCGCG CTTGTGGGTGTATTTGTGCGTGTGTGTGTGTGCGTTCACCCCTACGTGTG GGTCGGCACTTCCACTGAGATCACTGGCACACAAGCAGAGCCCTCTTGCT GTGTTTGTTCTTCCCTTTGGATCTCCTGGTCCTCCCTTGCAGAGAAGCGA GGGTGCCAGTGTTCACGGACTCCTGATCTGTCCGGGTCGTCGAAGAGAGG TTTAGCAGGGAGCTTTGCTGTTCAGGATGATGGTTTTTCATCCCACACTT GTATTTCGATTGATGAATCACAAGTACGTTGGGAGGCAGGGTACCTTCGA CTTTTCTGACGTTGAACTCAGGCTTCGTTTTGTTTTGCTCTTGGGGGAAT TTCCAGTGGTCTAAGGTGCTTTCCTGAGTGGCTCTTTCCACCAAGCGCTC GTCCAACTCGGGTGCCTGGAGGCAGGGGTGGTCTCTCTTGAGCTCTCCTT GCGTTGCTCGCCTGTCTGTGTCTTCAGCGCCGAGGGCTCTTGGTTCCCTG CCTCTTGACACACTCTCACTGTGTCTTTCCCATTCACTCTTCTGGATGTA AAAGAGGACATAGGCCTGTTGACTCAGGACAGAAGTGATGCTACAGGCAG TGACCTTGGCATCATCCATTTTATACCACTGGCCTTCTTGAGCTTTGACA TAAGAGAAGTAATGTCCGTCGTGACAACTCCACCCAGCGTGGACCAGCAC AGCATAGAGGACATAGACAAGAGGTCCTGTGTTCTGCTGAGACATGTATG GCTGCATGTCAAGGCACTCAGGATATTGCACATTCTTGGCAAGTTTGTTG CCTGTGACATCGGAGAATCTCTTCAAGACAAGGATGAGGACCTTGGCAGA AGTGTGTAAAGTTAACGTCTTGGAGGCCGGCGCCCTCTGGAGACAAAGAC CGCAATGATAGGCATTCTCTCCATTGAGTTCTTCGGGCTTCACCAACTGT TCCAAAGCTTGCTTGACACTCTGAGCTGCCTGGATATCCAGGGCGATGTC CAGGTAAGGGTCAAAAGTGTCTGAAATCCCGTGGCAGTGGAGACACTTGA TTTGAGATCTCCAGCAGCCTCCAAATATTTGGTGGATGAGGGTGGTGTCC TTAGAGTGATGATCTACCTGCTTGTGGCCGGGAAGGCATGCCTTTTTCAT GGCATCCACAGTGAACATGAGAAATTCATGGGCATCTTCCTGCTTGCCTC TATGGAAGCCAGCAGCCAATGCCTGTGAGGGCTGGATGACATGACCAGGA CTGTGGAGGGCCCATGTGATGTGAGCTTGCATAGTACAGAGCATGCAGCA CTTGGGACGCTGACATGTTTGAGAGTGCTCCCGGGACAGCATGTAGTTGG CAAGGGGCGGTGTGTATGTCAGGCACTGCAGGGAAGCGTTCTCGTAGCAG GTATTTCCCATATTCTGGAGCCCAGCCCCCACCGCAGCAGGTCTCCTGCT ACTCAGAGGAAGCTTCTTCCTGGGAGCAAGCTGTCTTGCCACAGGAGCCA AATCATCACAGAGGTCGACACGGGCCTCAGATGAGAGTGGTGACTTCTCA GGGAGAGAAGTCCGCTGGATTTCAGCAAAAGCTGCATCTGGCCGAGAAGA TGTGAGTTTTGAAAAGTGGTTGAACTGCCACTCACCTCCCAAGTAGAGTG AGTCGTCCTCCATGTCGCCCGCAACAAGGATCACAAGGTTTTTCTGCTGG GACTGCAGGTTGCAGCAAGACGCTATCTCTTCCAAGAGAGTCTTCAAATG ACGAGCTCTCTGGCCGCATCAGCCCTTATATAACTCACCCCCACCAACCG CGAACACCCCACCCACCCATCAGGTGTGCGATAAACCAATCAAATATCAG CACTCAATTAAGGAATGAGTCACAGGGTGTGTCCCCTTGCATCGCTGGGA ATTCAACAGACACAGCCCACATCATGACTTCTAGAACACCTGAATCAAAT TACTCCTCAGGGTGATAGGCACATATAATATGAGTGTAACCGGGTTGGGA CAGTGGCCACACAGTTGCCTTATTTTAGGTAAAAGAATGTCAGGGAAGAA ATCTTTACCTATGAAACCGTGTGTGTATCTCTCTGTGTGTGTGTGTGTGT GTGTGTGTTTGTGTGTGTGTGTGTGTGCTTGTGCTGGGATGAACTTCCAA GTATGTACTTTTGGCAGCTACCGTCATCCTCTCATCGACGGAAGGACAAG AAGTCTGAAGTGCGCTTTCTGACCTGAGAATAGTCAATGAAGTATAGTAT TTAGCACAGCGTATTTTCTTCCTTAATAATAAAGGAGATATCCGTGGCAT CAAACAGACCTTCCAGGGATAACCTTTCCACGTTCAGCCTATTGACTCTC TATCCGAGTGAAATTACTGGCCAGTGGAGAACAAGACAAGTCTTTGCATG AAATGCTCTTGTGGAAGCTAGGCTGCCAAATAATAAAGCATCAAATGGTA GAAACATGCACTGAAGTTTGAAGAGTTACTCAGTGCACAAAGTAGGCTGT GAAAGACTTTGGGGAAATCATGCAATCACCGAGAGACTAATTGATGACAT TCCCCAAATTTATGTGTGCCAGAAAAGAGAGATGGTCCTGACATTGTATA GTGAGTGGTTTCGGACGTGCGGCGGCAGTTTAAGAAAACTTGAAACAAAA AACTTGAGAAATCCAAAGGTATCCCAACTATAAGCTTTTGTTTATTAAAG AACTGATGAAAATAAAAACAACGTATCTCACAGCATGGGTGATACTATTT CCATACTTACGTGATAATGGATCAACATTTCATAGAGATGAAATAAAAAG TTCTAATTTTGACAAAAGCAAACAAGGAAAATTATACCGTAGAAAAGCCC GGGTGACGGGAGTGAGGCCCTGTCTGAAGAAGAAAACATCGGAGACGTTT AAAAGCAGTGAGTGAAACAGAGGGTAGCATAACCTTTTTAATACTGGCTC TTGTTTCACTGGGAAATGGCAAAAATAAACCGTGTATCTCCTGGATTCTC GCATCGGTTGTTCATGCTCTGAGATGTTCCCTCCATTTCCAGTTATGCAT TGTATGGTGGAATTGCAGTTAGCACCTTTGA	G G	transcript_ablation transcript_ablation	HIGH	HG04199.hp2 HG04199.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	195	0.0051	-4730	c.-14 others(11): Show c.-1418_*1719del	p.0? p.0?	USP17L2	ENSG00000223443.3	transcript	ENST00000333796.4	protein_coding	1/1						chr8	TogoVar
NBPF19_chr1_149470045_149561361	149524216	GTGTGTGT others(4722): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATCTGTCTTTCTCTTT CATTCTTTTCCATTTGGCCCTGTTCTGTCCCAACATGAAGGCAATAATTT GTTACCTCATTAATGGATCTATCCTTTTAGTTTCTTAACCACTTCCCTAT GCTACCCATGAAACCTAGTTGGGGCTCTGTTGTGTGTGATTTCCCCTGGC TTATTCTTTACTTTTTCCTCCTTTTCCAGGCTCAGCAGGGAGCTGCTGGA GGTAGTAGAGCCTGAAGTCTTGCAGGACTCACTGGATAGATGTTATTCAA CTCCTTCCAGTTGTCTTGAACAGCCTGACTCCTGCCAGCCCTATGGAAGT TCCTTTTATGCATTGGAGGAAAAACATGTTGGCTTTTCTCTTGACGTGGG AGGTGAGTACCTTTCTATGAAGGTGATAAGCATCCACTGAGTCTTCCATA TAAAGATCATATTCCTGCTCCAAGTGGCCATTACTGAGCTGAGAGATGTC ATTGCCGCAGTGAGGACCTATAGGCACATGTAGGTTGAATGAAACTCTAG TTCTACCTGGAAGCCCAGACATGGGATGGGTCAGTGAGCATGGCTCTCTT CCTAGTCTCAGGCCATACCTGTGGCACTCTGATTCTACTCTCATGACATT GGACCTGGGCAGATGTGACAAATTCAGAGAACTATGATTTTGACTCAAGG GTTTGCAGATTTCCTTTTTCACTCTAATTTCAGTGTCTAAAGTCCTCACA ACCATGAACAATCTGAGTATTTGATGAGACAGGGCTAAATATTGCAGTTT TTCTCCCAGAAATCATTTGAGGGTATTTGCTTTAAATTGATTGGAAAAAT ATGGCATAACTGTTTGCACAAACTTGGGACAAATGATATTGGGATAACGA TCTACTAGAATAGGGACATTTTACCCACAGTTTCTGGGAGAAAAACCGAG GAATTTCTATCATGACCAGCCTTCAGGCCTCCTGAAATATATCTCTCACA GTGTCCTATTCTTATGCTGAGGAGCCTGAGGTCCCTGTGTGAGGATTAGA CAGTGGATTGTTATGTGTGTAGGGGAATCAGCTTAATGTGTCTGTCCATG TCTGAATTTATTGCAGAAATTGAAAAGAAGGGGAAGGGGAAGAAAAGAAG GGGAAGAAGATCAAAGAAGGAAAGAAGAAGGGGAAGAAAAGAAGGGGAAG AAGATCAAAACCCACCATGCCCCAGGTGACTTTCAGCAATTGTGGATGCT TAATTCTGTGTTAACACCTGGAGGCAACAGATTCAGGGAAACCAGAGTGT GTTTGATGTCATGTTTTCAACGAAGGCTGAATTACTCCTACTGTCATTGC TGTTGGTTTTCATTGCAGTAGATGTTTAGGTTTCCATTTCTTCCTCCCCT TATCATTTACTAACGTACCATAGGTTGACCATACTTCAAAAGCTGTACTC TCATGGCCACTGCATCGAATTTTGAGCATATTTTATGGAAAACTATTGAG CTCACTCTTTTCATGATCACAGTTTGCTGTGTGTCATGAGGGCACTAACT CAGAGTGTCCTTTTACTCCCTTACCAGTATGTCACCTGGCCAATTCACTA GGTCACTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTGTCTCTGTCTC TCTCTCTCTCTCTGTCTTTCTCTTTCATTGTTTTCTACCTGGCCCTGTTC TATCCCAACATAAAGGCAATAATTTGTTACCTCATTAATGGATCTGTCCT TTTTCTTTTCAAACTCTTCCTTAACGTTAGCCATGAAATCTAGCTGGGGC TGTGTGGTTTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCCACTTTT CCAGGCTCAGCAGGGAGCTGCTGGATGAGAAAGGGCCTGAAGTCTTGCAG GACTCACTGGATAGATGTTATTCAACTCCTTCAGGTTGTCTTGAACTGAC TGACTCATGCCAGCCCTACAGAAGTGCCTTTTACATATTGGAGCAACAGT GTGTTGGCTTGGCTGTTGACATGGATGGTGAGTACCTTTCTATGAAGGTG ATAAGGATCCACTGAGTCTTCTGGTTAGGGTCATATTCCTACTGCAAGTG GCCCTTACTGAGCTGAGAGATGTCATTGCCACAGGGAGGACCTATAGGCA CATGTAGGTTGAATGAAACTCTAGTTCCACTTGGCAGCCCAGACAAGGGA TGGGTCAGTGAGCAAGGCTCTCTCCCTAGTCTCAGGCCATGCCTGTGGCG CCCTAATCCTACTCTCATGACATTGGACCTGGGCAGATGTGACAAATTCA CACAACTCTGATTTTGTCTCAATTTTGTAGATCTTGTAGATTTCATCCTT CACTCTAATTTCAGCGTCTAAAATCCTCGCTACCATGAACAATCTGAGTA TTTGATGAGACAGGGCTGAATAGTGCAGTTTTTCTCCTAGCAACCATTTG GGGGTATTTGCTTTAAATCGATTGGAAAAATATGGCATAACCATTTGCAC AAACTTGGGACAAATGATATTGGGATAACGATCTACCAGAATAGGGAATT TTACCCACAGTTTCTGGGACAAAAACCAAGGAATCTCTATGGTGATCAGC CTTCAGGCCTCCTGAAGAATATCTCTCACAGTGTCCTATTCTCATGCTGA GGAGCCTGAAGTCCCTGTGTGAGGATTAGACAGTGGATTGTTATGTGTGT AGGAGAACCAGCTTCATATGTCTGTCCATGTCTGAACTTATTGCAGAAAT TGAAAAGTACCAAGAAGTGGAAGAAGACCAAGACCCATCATGCCCCAGGT AACTTTGAGCAATTATGGATGCTTAATTCTGTGTTGACACCTGGAGATGC CAGGTCCAGGGAAAACAAGAGTGTGTTCAATTTCATGTTTTCAACGAAGG TTGAATTACTCCTACTGACATGGCTGTTGGTTTTCATTGCAGTAGATGTT TAGGTTTCCATTTCTTCCTCCCCTTAACATTTACTAACTTACTATAGGTT GACCATACCTCAAAGGCTGTATGGCAACTGCATGGAATCTTGAGCAAGTT TATGGAAAATTATTGAGCCCACTCTTTTCATGATCACTGTTCGCTGTGTG TCCCGAGGGCACTAACTCAGAGTGTCCTTTGACCCCTTCATCAGTGTGTC ACCCGGCCAACTCGCTGAGCTCACTTTCTCCTCTCTCTCTCTCTCTCTCC CTCTCCCTGTCTTTCTCTTTCATTCTTTTCTACCTGGCCCTGGTCTATCC CAACATAAAGGCAATAATTCATTACCTCATTAATGGATCTGTCCTTTTTC TTTTTAAACAGTTCCTTATGTTAGCCATGAAATCTAGCTGGGGCTGTGTG GTTTCTGATTCCCCCTGGCTTATTCTTTACTTTTTCCTACTTTTCCAGGC TCAGCAGGGAGCTGCTGGATGAGAAAGAGCCTGAAGTCTTGCAGGACTCA CTGGATAGATGTTATTCGACTCCTTCAGGTTATCTTGAACTGCCTGACTT AGGCCAGCCCTACAGCAGTGCTGTTTACTCATTGGAGGAACAGTACCTTG GCTTGGCTCTTGACGTGGACAGTGAGTACCTTACTATGAAGGTGATAAGC CTCCACCTGGTCTTCCAGATAGGGGTGATATTCCTGTTCCAAGTGGCCCT TACTGACCCGAGAGATGTCATTGCCGCAGGCAGGACCTATGGGCGCATAT AGGTTGTAATGAAACTGTAGTCTCAGTTGGAAGCCTAGACATGAAATGGG TCAGTGAGCAAGGCTCTATTCCTAGTCTCCAGCCATGCCTGTGGCAACCT GAGCCCGCTCTCAGCACATTGGACCCAGGCAGATGCAAAAAATTCACAGA ACTATGATTTGGACTCAAGGGTTTGTGGATTTCCTCCTTCATTCTAATTT CAGTGTCTAAAATTCTTGCATCCATGAACGAGCTGGGCATTTGATGAGAC AGGGCTGAATACTGCAGTTTTCCTCCTAGAAATCATCTGGGGCATTTTCT TTGAACTGATGGGAACAATAAGGCATAACTGTTTGCACAAACTTGGGATA AGTGATTTTGGGATAACGATCTACCAGAATGGGGATATTTCACCCTTGGT TCTGAGATGCAAACCAAAGAATATCATGACCAGCTTTCAGGCCTCCTGAA GTATATCTCTCACATTGTCCTGTTCTCATGCTGAGGAGCCTGAGATCCCT GTGTGGGGATTAGACAGTGGACTGTTATGGGTGTAGGTGAATTGGCTTAT TTTGTCTGTCCCTGTCTGAATGTATTGCAGGAATTAAAAAGGACCAAGAA GAGGAAGAAGACCAAGGCCCACCATGCCCCAGGTAACTGAGCAATTGTGA ACAGCTACTTCTGTGTTGACATCTGGAGACTCCTGGTTCAGGGAAAACAG AGCGGGCTGACATTATCGATTACATCTTTTCAAGCAAGCCTGAATTATTC CTACTAACATTGCTGTTGGTTTTCATTGCAGTAGATATTTAGGTTTCCAT TTCTTCCTCCCCTTATCATTTACTAACCTACTGTACGTGGACCAGACTTC AAAAACTGTATTCTCATGGCGACTGCGTGGAAACTTGAGCACATTTTATG GAAAATTATTGAGCACAGTCTTTTCATGATCACTGTATGCTGTGTGTCCT GAGGGCACTAACTCAGAGTGTCCTGTTACTCCCTCATCAGTGTGTCACCT GGACAATTCACTGAGCTCGTTCTCTCTCTC	G G	exon_loss_variant exon_loss_variant	HIGH	HG02965.hp1 NA18954.hp2 NA18962.hp2 others(1): Show HG02965.hp1 NA18954.hp2 NA18962.hp2 NA19005.hp2	a0158 a0183 a0190 others(1): Show a0158 a0183 a0190 a0206	a0158c0084 a0183c0041 a0190c0049 others(1): Show a0158c0084 a0183c0041 a0190c0049 a0206c0053	a0158c0084t0001 a0183c0041t0002 a0190c0049t0002 others(1): Show a0158c0084t0001 a0183c0041t0002 a0190c0049t0002 a0206c0053t0002	a0158c0084t0001g0049 a0183c0041t0002g0246 a0190c0049t0002g0244 others(1): Show a0158c0084t0001g0049 a0183c0041t0002g0246 a0190c0049t0002g0244 a0206c0053t0002g0249	4	276	0.0145	-4729	c.678 others(15): Show c.6787+99_7519+98del		NBPF19	ENSG00000271383.9	transcript	ENST00000651566.2	protein_coding	57/94					INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP1_chr18_3491032_4460307	3765969	ATAAAAAA others(4721): Show ATAAAAAATGGCAGACTTAAGCCCTAACATGTCAATAATTGCATTAAATG TAAATAGCCTACATACGTCAACTAAAAGGCAGAGATTTTCAGAGTGATTA AAAAACACATCTATAAGAACCTCACTGCAAATATAACAATGTAGGCAAGT TGAAAGCAAAAGGATGGAAAATTTATATCATGCAAACATTAATTAAAGGA AAATAGGAGTTGCTCTACTAGTATCAGATAAAGTACACTACAAAGTAAAA AAAGTCAGAGATAGGGAAGTACATTATATAATGATATATCATGGGTTAAT TCATCAGGAAGACATAGCAATCTTAGATGTTTATGCAGCAAACAACAGCA TATATTGAATGAAAAAGCTGATAGAACTGAAAGGAGAAATAGAAAAATTC ACGATTGTAGTTGGAGACCTCAGTTACTACCTCCCAACAATTGACAGAAC TAGACAGAAAATCAGCAAGGATAGACAAGAACTCAACAACTCCATAAACC AATAGACTCAAACAGACATTAGAGAACACTCTACCCAAGAACAGCGGAAT ACTCATTGTTTCCAAGTGCCCATGGAACATATACCAAAATAGTCCATATT TGGGGCCATAAAAAAAAACTCAACAAACTTGAAAGAACTGAAATATACAT AGTGTATTCTACAACCACAATGACATCAAATGAAAAATCAGTAACAGAAA GATAACAAGATCACCTTTAAACGCGGAAATTAAACAATGCAAAGCTTAAT AAGCCATAGATAAAAGAGGAAATCTTAAGGAAAATAAACAAATACACTGA ACTGGAGGAAAATTAAAACAAGCATATTAGAAGTTTTGAGACACAGCTAA ATCAGTGTTGAGAGGGAAACGTATAGCACTAAATGTATATGTTAGAAAAG AAGTCTCAAATCAATAATTAAGCTTTTCCTCATGAACCTAAAAAAAGATC AGAATAAACTCAAAACAAGCAGAAAAACAATATAAAAGATAAAATACTTG AAAAGAATCAAAGTTCTTCTTTGAAAAGGTCAATAAAATGGATAATTTTT GCACAAGCCTGACAAAGAATAAAAGAGAAAAGACACTAATGACCAATATC TGGAATGAAATGGAATATCACTAGAGATTCTGCAGGTATAAAGGGATACT ATGAACAACTGTATACTTGTAAACTTGGCAATATAGATGGAAGGAACCAA TTGCTTGAAAAACAAAAATTACCACAATTCACCTACTTTTCAACAGATAT TAGACCTGTAATTCTTAAGGATATTGACTTTGTAATTTAAAAGTTCCTCA AAAAGAAATATCCAGGTCCAGATGGTTTCACAGGAGGATGTCACCAACTT CTAAAGAAAAACCAAAACCAATTATACACAATCTTTTCCAGAAAATAGAA GAGAAGTAAACATTCCCATTATAAAATGAATTTTTATAAAGCTAGCATTA CCCTAATATCAAAAGCAGAAAAAGACAGTACAAAAAAATAAAACTATAGA CCTCATGAATAAAGACACAAATGTTCTTATCAAAACATTGGCAAATAGAA TTCAGTAATATATATAAAGAATTATACACCATGACCAAGTGGAATTTACT CCGCTTGGATGGGATATTCCACTTTCAGAAATGCAAGGCCCGTTCCATAT CTGAACATTAATGTAATCTATTGATACCATATTAAGAGGCTAAGGAAAAA AATCATATGACCCTATCAACTGATGCAGAAAATGCATGTAACAAAATTCA ACTCTCATTCATGATAAAAAGTCTAAGAAAAATAGAAATAAGAGCGAATA TCTTCAATTTGATAAGGAACATCTAAAAAGATCTACAGCTAATGATATAC TTAATGGTGAAAGACAGAATGTTTTCCCCCTAAGATCATGAACAAGACAA AGATTTCCACTCTTATCATGCTTATTCAAAAGTTCTGGAAATTCTAGCTA GTATGGCAAGGAAATAAAAGGCATAGAGTTGGAAAGGAACCTAGTTCACC TAGGCTCAAAACCACCACCTAGTTCAAAACTGTCCCTGTTTTGTCTTGTC ATCTGTTTGCAGATGACATGATTGCCTACAAAGGAAATCTGAAGAACTTA ACAAAAAAACTTCTGGAACTAAGTGAATTCAGCAAAGTCACAGGATATAA GGCTAACATACAAAAATCAGTTGTATTTCTCTATGTAGTAATGAACACCT GGACGCAGAAATTAAAAATCCAATACCATTTACAACTGCTTAGAAAATAA AATACTTAGGTGTAAATCTAACAAAATATGTTCGGATCTGGTGAGCTGAA AAGTACATGGCACTGATGAAATAAATCAAAGATGATTTTAATAAATGGAG ACACATAGCATGTTTATGAGTTGAAATACTCAAAAATAGGAGAAATGTCA ATTCTCCCCAAATTGATATGCAGGTTTAATGCAACTCTTATCAAAATCTC ATAAAGATTTTTGTAGATATAGACAAGATTTTTTAAAAATTTGTATGGAA AGTCAAAGGAACAAGAATAGCTAAAACAATTTTGAAAAAGGAGAAGGAAG GGGGAGGATTCAGTCTATTCAAAGACATACTCTATGGCTACAGTAATCTA GACTGTGTAGTATTGGTGAAAGGGTAGGAACACAGACCAGTGCAACAGAA TGGAGAATCAAGAAAGCCCAAAACCTCCCTAACTGATTACTGACAAAAGT GCAAAAGCAATTCAAAAGAGGAAAGATGGCCTTTCTAATAAATGGTGCTG GAGCAATTGGACATCCACAGGCAAAAAGACGTAAGTCTCCCACCTTACGC AAACTCAAAATTGATCAAGGGCTTAAATGTAAAATATGAAACTATAAAAC TTTTAGAAAAAACATTGAAGAAAAGCTTTGGGATTCTAAGCTAGGCAGAG TTCTTAGAATCAACACTAAAAGAATGATCCATAAAGTGAAAACCTGATAA ATTGGATTTAATCAGAATTAAAAACTTTAGCTCTGTGAAATACCTGATTA AGAAGATGAAAAGATAAGCTAGAAATAGAAGATAATTGAAAATCACATAT CTGACAAAGGATTAGTACCTAATATAAATACAGTACTTTCAAAACCCAAC AGTAAAAAACAAGCAATCCAATTAGATAATGGGCAAAACTCATGAAGAAA CACTTCACAGATAAACCCAGGAGAAGAGTTCAACATCACTAGTCATTAAG GAAATGAAAATTAAATTCACAATAAGATAGTACTCCACTCCTATCATAAT GACTACAACAAAAAATTAATGACAGCAACAAATGTTGGTGAGGATTCAAC GAAAAGGGATCATTCATACATTGCTGGTAGGAATGTAAAATGGTACAACC ACTCTGTAAAACAGTTTGATGGTTTGTCTAAAACCTGAATATGCAACTAC TATATGACCCAAGAATTGTACTCCTGGGAATTTGTCTTAGAGAAATGAAG CGTATGTTCACTCAGAAACCTTTATAGGAATGGTTACAGCAGCTTTGTTT ATAATCGCCCCAAATTGCGCACAACCAGGATATCCTTCAAGGAATGAATG GTTAAACTGTAGTACATCCATGGAATACTTCTCAGCAACAGCCTGGATGA ATTTCCAGAGAACTATGCTGAATGAAGAAAGCCAGTCCCAAAAGGTTACA TACTGTGTGATTCCATTCATGTAAAATGACAGAGTTACAGAAATGGAGAA CAGATTGGTGATTGCGAGGGGTAAAGAAAGTGGTGGGGTTGGGAGGGAAG TGGGTGTGGCTATAAAAGGGCAACATGAGGGACCCATGCAATGATGGAAA TGTTTGTATCTTGACTACCAGTGTCAATATCCTCTTTGTGATATTGTTCT ACAGTTTTTTGAAATGTTACCACGGTGGGTGGGGGGGGAAAACTGGGTAT AAGGTGCATGAGATCTCTCTGTACTATTTTTACAACTACATGTTAATCTA CAATTATCTCAAAATAATTTTAATCTCAAAATAAAATTTTAATTAAAAAA ATCCCACCTTCAGACAATGAATGAGTCAGGATGCAGGAAAAACTAATAGT GTGGTTCACCATCTAGTTCAAAGCTGGACATTGGAACTGAGTTTGTACCT AAGAATAAGTAGAACCAAGTTAGTCTCCAAATTTTTAAACGTCTGCCATG ATGAACCAGGGTCTGTGTGTGTGGCAGTGAGAAGAGCACACTTGAAGAAT GTACTCATGGGTGGACTTGGGACCTGGTTGGAGACAGGCACTACTATGCA TAAGGCCTGCATCTTCCATTTTCCCTGTCTGATAGGTCAGTGCTGTCACT GTGGGAGAGAGAAGGCAGGCAGGAGAAGGGAGGTGGTGGAATTTTCCTCT TATTCTTCTCTGAGTCTCTAGAAATTTGGGTACTTCTTAATGACCAGACA CATGTCCTGAATATTGCTCCTGCCTTACCCCCACATCACTGGCTACTGCA AACTCCTAATAGTCACCTTGATGCCATAATTAAGGCAAAAAAGACTGGAG GTGGCCATAGGAAAAGGCATTTAAAATACATTTTGATGTGCCATGAAACA CAGATGAATGCCCATTCATTGGCTATGTTTTACATGGGCTTTAGCTGTAG AAATGCAACAGCTCTGAAATTTATACTTAGAGAAAATAACTACTCATTCA TCTGAACAAAAACATAAAAGTTTTCCAGGAAATGTGAAGAATCATTAACT TCACAGATTCTGAACAGAAAGTATAATTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0074 a0001c0003t0035g0074	1	80	0.0125	-4728	c.117 others(21): Show c.1173-28185_1173-23458del		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12						chr18	TogoVar
NBPF10_chr1_146059711_146149804	146068386	AGAGGAGA others(4721): Show AGAGGAGAAAGTGAGATCAGCGAATTGGCCGGGTGACACACTGATGAAGG GGTCAAAGGACACTCTGAGTTAGTGCCCTCGGGACACACAGCGAACAGTG ATCATGAAAAGAGTGGGCTCAATAATTTTCCATAAACTTGCTCAAGATTC CATGCAGTTGCCATACAGCCTTTGACGTATGGTCAACCTATAGTAAGTGA GTAAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATG AAAACCAACAGCAATGTCAGTAGGAGTAATTCAACCTTCGCTGAAAACAT GAAATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGTGTCA ACACAGAATTAAGCATCCATAATTGCTCAAAGTTACCTGGGGCATGATGG GTCTTGGTCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAATAAGTT CAGACATGGACAGACATATTAAGCTGGTTCTCCTACACACATAACAATCC ACTGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGAGAATAGG ACACTGTGAGAGATAGTCTTCAGGAGGCCTGAAGGCTGATCACCATAGAG ATTCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTATTCTGGT AGATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGGTTATGC CATATTTTTCCAATCGATTTAAAGCAAATGCCCCCAAATGGCTGCTAGGA GAAAAACTGCACTATTCAGCCCTGTCTCATCAAATACTCAGATTGTTCAT GGTAGCGAGGATTGTAGACGCTGAAATTAGAGTGAAGGATGAAATCTACA AGATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTCACATCT GCCCAGATCCAACATCTTGAGAGTAGGATTAGGGCGCCACAGGCATGGCC TGAGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCTGGGCTT CCAAGTGGAACTAGAGTTTCATTCAACCTACATATGCCTATAGGTCCTCC CTGTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGTAGGAAT ATGACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGG TACTCACCATCCATGTCAACAGCCAAGCCAACACGCTGTTGCTCCAATAC ATAAAAGGCACTTCTGTAGGGCTGGCATGAGTCACACAGTTCAAGACAAC CTGAAGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGC CCTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGGAAAAAGT AAAGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTC ATGGCTAACGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCCATTAAT GAGGTAACAAATTATTGCCTTTATGATGGGACAGAACAGGGCCAGGTAGA AAACAATGAAAGAGAAAGACAGACAGAGACAGAGACAGAGACAGAGACAG AGAGAAAGTGACCTAGTGAATTGGCCAGGTGACATACTGGTAAGGGAGTC AAAGGACACTCTGAGTTAGTGCCCTCATGACACACAGCAAACTGTGATCA TGAAAAGAGTGAGCTCAATAGTTTTACATAAAATATGCTCAAAATTCGAT GCAGTGGCCATGAGAGTACAGCTTTTGAAGTATGGTCAACCTATGGTACG TTAGGAAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCA ATGAAAACCAACAGCAATGACAGTAGGAGTAATTCAGCCTTCGTTGAAAA CATGTCATCAAACACACTCTGGTTTCCCTGAATCTGTTGCCTCCAGGTGT TAACACAGAATTAAGCATCCACAATTGCTGAAAGTCACCTGGGGCATGGT GGGTTTTGATCTTCTTCCCCTTCTTTTCTTCCCCTTCTTCTTTCCTTCTT TGATCTTCTTCCCCTTCTTTTCTTCCCCTTCCCCTTCTTTTCAATTTCTG CAATAAATTCAGACATGGACAGACACATTAAGCTGATTCCCCTACACACA TAACAATCCACTGTCTAATCCTCACACAGGGACCTCAGGCTCCTCAGCAT AAGAATAGGACACTGTGAGAGATATATTTCAGGAGGCCTGAAGGCTGGTC ATGATAGAAATTCCTCGGTTTTTCTCCCAGAAACTGTGGGTAAAATGTCC CTATTCTAGTAGATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAA ACAGTTACGCCATATTTTTCCAATCAACTTAAAGCAAATACCCTCAAATG ATTTCTAGGAGAAAAACTGCAATATTTAGCCCTGTCTCATCAAATACTCA GATTGTTCATGGTTGTGAGGACTTTAGACACTGAAATTAGAGTGAAAAAG GAAATCTACAAACCCTTGAGTCAAAATCATAGTTCTCTGAATTTGTCACA TCTGCCCAGGTCCAATGTCATGAGAATAGGATCAGGGCGCCACAGGTATG GCCTGAGACTAGGAAGAGAGTCTTGCTCACTGACCCATCCCTTGTCTGGG CTTCCAGGTAGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGTCC TCCCTGTGGCAATGACATCTCTCAGCTCAGTAATGGCCACTTGGAGCAGG AATATGATCTTTATATGGAAGACTCAGTGGATCCTTATCACCTTCATAGA AAGGTACTCACCTCCCACGTCAAGAGAAAAGCCAACATGTTTTTCCTCCA ATGCATAAAAGGAACTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGA CAACTGGAAGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTC AGGCTCTACTACCTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAA AAGTAAAGAATAAGCCAGGGGAAATCAGACACAACAGAGCCCCAACTAGG TTTCATGGGTAGCATAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCA TTAATGAGGTAACAAATTATTGCCTTCATGTTGGGACAGAACAGGGCCAA ATGGAAAAGAATGAAAGAGAAAGACAGATAGACACACACACACACACACA CACACACACAAACACACACACACACACAGAGAGAGAGAGAGAGAACGAGC TCAGTGAATTGTCCAGGTGACACACTGATGAGGGAGTAACAGGACACTCT GAGTTAGTGCCCTCAGGACACACAGCATACAGGGATCATGAAAAGACTGT GCTCAATAATTTTCCATAAAATGTGCTCAAGTTTCCATGCAGTCGCCATG AGAATACAGTTTTTGAAGTCTGGTCCACCTACAGTAGGTTAGTAAATGAT AAGGGGAGGAAGAAATGGAAACCTAAATATCTACTGCAATGAAAACCAAC AGCAATGTTAGTAGGAATAATTCAGGCTTGGTTGAAAAGATGTAATCGAT AATGTCAGCCCGCTCTGTTTTCCCTGAACCAGGAGTCTCCAGATGTCAAC ACAGAAGTAGCTGTTCACAATTGCTCAGTTACCTGGGGCATGGTGGGCCT TGGTCTTCTTCCTCTTCTTGGTCCTTTTTAATTCCTGCAATACATTCAGA CAGGGACAGACAAAATAAGCCAATTCACCTACACCCATAACAGTCCACTG TCTAATCCCCACACAGGGATCTCAGGCTCCTCAGCATGAGAACAGGACAA TGTGAGAGATATACTTCAGGAGGCCTGAAAGCTGGTCATGATATTCTTTG GTTTACATCTCAGAACCAAGGGTGAAATATCCCCATTCTGGTAGATCGTT ATCCCAAAATCATTTATCCCAAGTTTGTGCAAACAGTTATGCTTTATTGT TCCCATCAGTTCAAAGAAAATGCCCCAGATGATTTCCAGGAGGAAAACTA AAGTATTCAGCCCTGTCTCATCAAATGCCCAGCTCGTTCATGGATGCAAG AATTTTAGACACTGAAATTAGAATGAAGGAGGAAATCTACAAACCCTTGA GTCCAAATCATACTTCTGTGAATTTTTTACATCTGCCTGGGTCCAATGTG CTGAGAGCGGGCTCAGGTTGCCACAGGCATGGCTGGAGACTAGGAATAGA GCCTTGCTCACTGACCCATTTCATGTCTAGGCTTCCAACTGAGACTACAG TTTCATTACAACCTATATGCGCCCATAGGTCCTGCCTGCGGCAATGACGT CTCTCGGGTCAGTAAGGGGCACTTGGAACAGGAATATCACCCCTATCTGG AAGACCAGGTGGAGGCTTATCACCTTCACAGTAAGGTACTCACTGTCCAC GTCAAGAGCCAAGCCAAGGTACTGTTCCTCCAATGAGTAAACAGCACTGC TGTAGGGCTGGCCTAAGTCAGGCAGTTCAAGATAACCTGAAGGAGTCGAA TAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTTTCTCATCCAG CAGCTCCCTGCTGAGCCTGGAAAAGTAGGAAAAAGTAAAGAATAAGTCAG GGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCATGGCTAACATAAG GAACTGTTTAAAAAGAAAAAGGACAGATCCATTAATGAGGTAATGAATTA TTGCCTTTATGTTGGGATAGACCAGGGCCAGGTAGAAAAGAATGAAAGAG AAAGACAGGGAGAGGGAGAGAGAGAGAGG	A A	exon_loss_variant exon_loss_variant	HIGH	HG02040.hp2 HG02040.hp2	a0067 a0067	a0067c0065 a0067c0065	a0067c0065t0019 a0067c0065t0019	a0067c0065t0019g0061 a0067c0065t0019g0061	1	283	0.0035	-4728	c.101 others(19): Show c.10131-213_10863-212del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	87/90						chr1	TogoVar
NBPF10_chr1_146059711_146149804	146071516	GACACACA others(4721): Show GACACACACACACACACACACACACACACAAACACACACACACACACAGA GAGAGAGAGAGAGAACGAGCTCAGTGAATTGTCCAGGTGACACACTGATG AGGGAGTAACAGGACACTCTGAGTTAGTGCCCTCAGGACACACAGCATAC AGGGATCATGAAAAGACTGTGCTCAATAATTTTCCATAAAATGTGCTCAA GTTTCCATGCAGTCGCCATGAGAATACAGTTTTTGAAGTCTGGTCCACCT ACAGTAGGTTAGTAAATGATAAGGGGAGGAAGAAATGGAAACCTAAATAT CTACTGCAATGAAAACCAACAGCAATGTTAGTAGGAATAATTCAGGCTTG GTTGAAAAGATGTAATCGATAATGTCAGCCCGCTCTGTTTTCCCTGAACC AGGAGTCTCCAGATGTCAACACAGAAGTAGCTGTTCACAATTGCTCAGTT ACCTGGGGCATGGTGGGCCTTGGTCTTCTTCCTCTTCTTGGTCCTTTTTA ATTCCTGCAATACATTCAGACAGGGACAGACAAAATAAGCCAATTCACCT ACACCCATAACAGTCCACTGTCTAATCCCCACACAGGGATCTCAGGCTCC TCAGCATGAGAACAGGACAATGTGAGAGATATACTTCAGGAGGCCTGAAA GCTGGTCATGATATTCTTTGGTTTACATCTCAGAACCAAGGGTGAAATAT CCCCATTCTGGTAGATCGTTATCCCAAAATCATTTATCCCAAGTTTGTGC AAACAGTTATGCTTTATTGTTCCCATCAGTTCAAAGAAAATGCCCCAGAT GATTTCCAGGAGGAAAACTAAAGTATTCAGCCCTGTCTCATCAAATGCCC AGCTCGTTCATGGATGCAAGAATTTTAGACACTGAAATTAGAATGAAGGA GGAAATCTACAAACCCTTGAGTCCAAATCATACTTCTGTGAATTTTTTAC ATCTGCCTGGGTCCAATGTGCTGAGAGCGGGCTCAGGTTGCCACAGGCAT GGCTGGAGACTAGGAATAGAGCCTTGCTCACTGACCCATTTCATGTCTAG GCTTCCAACTGAGACTACAGTTTCATTACAACCTATATGCGCCCATAGGT CCTGCCTGCGGCAATGACGTCTCTCGGGTCAGTAAGGGGCACTTGGAACA GGAATATCACCCCTATCTGGAAGACCAGGTGGAGGCTTATCACCTTCACA GTAAGGTACTCACTGTCCACGTCAAGAGCCAAGCCAAGGTACTGTTCCTC CAATGAGTAAACAGCACTGCTGTAGGGCTGGCCTAAGTCAGGCAGTTCAA GATAACCTGAAGGAGTCGAATAACATCTATCCAGTGAGTCCTGCAAGACT TCAGGCTCTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTAGGA AAAAGTAAAGAATAAGTCAGGGGGAATCAGAAACCACACAGCCCCAGCTA GATTTCATGGCTAACATAAGGAACTGTTTAAAAAGAAAAAGGACAGATCC ATTAATGAGGTAATGAATTATTGCCTTTATGTTGGGATAGACCAGGGCCA GGTAGAAAAGAATGAAAGAGAAAGACAGGGAGAGGGAGAGAGAGAGAGGG AGGAGAAAGTGAGCTCAGCGAATTGGCCGGGTGACACACTGATGAAGGGG TCAAAGGACACTCTGAGTTAGTGCCCTCGGGACACACAGCGAACAGTGAT CATGAAAAGAGTGGGCTCAATAATTTTCCATAAACTTGCTCAAGATTCCA TGCAGTTGCCATACAGCCTTTGAGGTATGGTCAACCTATAGTAAGTGAGT AAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAA AACCAACAGCAATGTCAGTAGGAGTAATTCAACCTTCGTTGAAAACATGA AATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGTGTCAAC ACAGAATTAAGCATCCATAATTGCTCAAAGTTACCTGGGGCATGATGGGT CTTGGTCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAATAAGTTCA GACATGGACAGACATATTAAGCTGGTTCTCCTACACACATAACAATCCAC TGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGAGAATAGGAC ACTGTGAGAGATAGTCTTCAGGAGGCCTGAAGGCTGATCACCATAGAGAT TCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTATTCTGGTAG ATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATGGTTATGCCA TATTTTTCCAATCGATTTAAAGCAAATGCCCCCAAATGGTTGCTAGGAGA AAAACTGCACTATTCAGCCCTGTCTCATCAAATACTCAGATTGTTCATGG TAGTGAGGATTTGAGACGCTGAAATTAGAGTGAAGGATGAAATCTCCAAG ATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGTCACATCTGC CCAGATCCAACATCTTGAGAGTAGGATTAGGGCGCCACGGGCATGGCCTG AGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCC AAGTGGAACTAGAGTTTCACTCAACCTACATGTGCCTATAGTTCCTCCCT GTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAGTAGGAATAT GACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTA CTCACCATCCATGTCAACAGCCAAGCCAACATGCTGTTGCTCCAATACAT AAAAGGCACTTCTGTAGGGCTGGCATGAGTCAGTCAGTTCAAGATAACCT GAAGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCCC TTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTGGGAAAAAGTAA AGAATAAGCCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCAT GGCTAACGTAAGGAAGAGTTTGAAAAGAAAAAGGACAGATCCATTAATGA GGTAACAAATTATTGCCTTTATGTTGGGACAGAACAGGGCCAGGTAGAAA ACAATGAAAGAGAAAGACAGACAGAGACAGAGACAGAGACAGAGAGAAAG TGACCTAGTGAATTGGCCAGGTGACATACTGGTAAGGGAGTCAAAGGACA CTCTGAGTTAGTGCCCTCATGACACACAGCAAACTGTGATCATGAAAAGA GTGAGCTCAATAGTTTTCCATAAAATACGCTCAAAATTCGATGCAGTGGC CATGAGAGTACAGCTTTTGAAGTATGGTCAACCTATGGTACGTTAGGAAA TGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAAAAC CAACAGCAATGACAGTAGGAGTAATTCAGCCTTCGCTGAAAACATGTCAT CAAACACACTCTGGTTTCCCTGAATCTGTTGTCTCCAGGTGTTAACACAG AATTAAGCATCCACAATTGCTGAAAGTCACCTGGGGCATGGTGGGTTTTG ATCTTCTTCCCCTTCTTTTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTC TTCCCCTTCTTTTCTTCCCCTTCCCCTTCTTTTCAATTTCTGCAATAAAT TCAGACATGGACAGACACATTAAGCTGATTCCCCTACACACATAACAATC CACTGTCTAATCCTCACACAGGGACCTCAGGCTCCTCAGCATAAGAATAG GACACTGTGAGAGATATATTTCAGGAGGCCTGAAGGCTGGTCATGATAGA AATTCCTCGGTTTTTCTCCCAGAAACTGTGGGTAAAATGTCCCTATTCTA GTAGATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAACAGTTAT GCCATATTTTTCCAATCAACTTAAAGCAAATACCCTCAAATGATTTCTAG GAGAAAAACTGCAATATTTAGCCCTGTCTCATCAAATACTCAGATTGTTC ATGGTTGTGAGGACTTTAGACACTGAAATTAGAGTGAAAAAGGAAATCTA CAAACCCTTGAGTCAAAATCATAGTTCTCTGAATTTGTCACATCTGCCCA GGCCCAATGTCATGAGAATAGGATCAGGGCGCCACAGGTATGGCCTGAGA CTAGGAAGAGAGTCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCCAGG TAGAACTAGAGTTTCATTCAACCTACATGTGCCTATAGGTCCTCCCTGTG GCAATGACATCTCTCAGCTCAGTAATGGCCACTTGGAGCAGGAATATGAT CTTTATATGGAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTACT CACCTCCCACGTCAAGAGAAAAGCCAACATGTTTTTCCTCCAATGCATAA AAGGAACTTCCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGACAACTGGA AGGAGTTGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTA CTACCTCCAGCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAG AATAAGCCAGGGGAAATCAGACACAACAGAGCCCCAACTAGGTTTCATGG GTAGCATAGGGAAGTGGTTAAAAAACTAAAAGGATAGATCCATTAATGAG GTAACAAATTATTGCCTTCATGTTGGGACAGAACAGGGCCAAATGGAAAA GAATGAAAGAGAAAGACAGATAGACACAC	G G	exon_loss_variant exon_loss_variant	HIGH	HG03669.hp2 HG03669.hp2	a0041 a0041	a0041c0027 a0041c0027	a0041c0027t0004 a0041c0027t0004	a0041c0027t0004g0241 a0041c0027t0004g0241	1	283	0.0035	-4728	c.962 others(18): Show c.9624-203_10356-198del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	83/90						chr1	TogoVar
USP17L1_chr8_7327387_7338979	7332253	TTGGTGGG others(4721): Show TTGGTGGGGGTGAGTTCTATAAGGGATGATGCGGCCAGAGAGCTCGTCAT TTGAAGACTCTCTCGGAAGAGATAGCGTCTTGCTGCAACCTGCGGTCCCA GCAGAAAAACCTTGTGATCCTTGTTGCGGGCGACATGGGGGACGACTCAC TCTACTTGGGAGGTGAGTGGCAGTTCAACCACTTTTCAAAACTCACATCT TCTCGGCCAGATGCAGCTTTTGCTGAAATCCAGCGGACTTCTCTCCCTGA GAAGTCACCACTCTCATCTGAGACCCGTGTCGACCTCTGTGATGATTTGG CTCCTGTGGCAAGACAGCTCGCTCCCAGGGAGAAGCTTCCTCTGAGTAGC AGGAGACCTGCTGCGGTGGGGGCTGGGCTCCAGAATATGGGAAATACCTG CTACGAGAACGCTTCCCTGCAGTGCCTGACATACACACTGCCCCTTGCCA ACTACATGCTGTCCCGGGAGCACTCTCAAACATGTCAGCGTCCCAAGTGC TGCATGCTCTGTACTATGCAAGCTCACATCACATGGGCCCTCCACAGTCC TGGCCATGTCATCCAGCCCTCACAGGCATTGGCTGCTGGCTTCCATAGAG GCAAGCAGGAAGATGTCCATGAATTTCTCATGTTCACTGTGGATGCCATG AAAAAGGCATGCCTTCCCGGCCACAAGCAGGTAGATCATCACTGCAAGGA CACCACCCTCATCCACCAAATATTTGGAGGCTGCTGGAGATCTCAAATCA AGTGTCTCCACTGCCACGGGATTTCAGACACTTTTGACCCTTACCTGGAC ATCGCCCTGGATATCCAGGCAGCTCAGAGTGTCAAGCAAGCTTTGGAACA GTTGGTGAAGCCCGAAGAACTCAATGGAGAGAATGCCTATCATTGCGGTC TTTGTCTCCAGAGGGCGCCGGCCTCCAACACGTTAACTTTACACACTTCT GCCAAGGTCCTCATCCTTGTCTTGAAGAGATTCTCCGATGTCGCAGGCAA CAAACTTGCCAAGAATGTGCAATATCCTGAGTGCCTTGACATGCAGCCAT ACATGTCTCAGCAGAACACAGGACCTCTTGTCTATGTCCTCTATGCTGTG CTGGTCCACGCTGGGTGGAGTTGTCACGACGGACATTACTTCTCCTATGT CAAAGCTCAAGAAGTCCAGTGGTATAAAATGGATGATGCCGAGGTCACTG TCTGTAGCATCATTTCTGTCCTGAGTCAACAGGCCTATGTCCTCTTTTAC ATCCAGAAGAGTGAATGGGAAAGACACAGTGAGAGTGTGTCAAGAGGCAG GGAACCAAGAGCCCTCGGCGCTGAAGACACAGACAGGCGAGCAAAGCAAG GAGAGCTCAAGAGAGACCACCCCTGCCTCCAGGCACCCGAGTTGGACGAG CACTTGGTGGAAAGAGCCACTCAGGAAAGCACCTTAGACCACTGGAAATT CCTGCAAGAGCAAAACAAAACGAAGCCTGAGTTCAACGTCGGAAAAGTCG AAGGTACCCTGCCTCCCAACGCACTTGTGATTCATCAATCAAAATACAAG TGTGGGATGAAAAACCATCATCCTGAACAGCAAAGCTCCCTGCTAAACCT CTCTTCGACGACCCGGACAGATCAGGAGTCCATGAACACTGGCACACTCG CTTCTCTGCAAGGGAGGACCAGGAGAGCCAAAGGGAAGAACAAACACAGC AAGAGGGCTCTGCTTGTGTGCCAGTGATCTCAGTGGAAGTGCCGACCCAC ACGTAGGGGTGCACGCACACACACACACACACAAATACACCCACAAGCAC GCACGCAAACACACACACACACACCCCCAAACAAACCCGAACACCGTCAA TCCTACATAAAGTAATGAGGAGTCCAAGTTTCTGTCTCTACAACAGGGAC AACTGGATAGTGATGGCTGTATCTCAGGATGAGCCCACACATGGGAAACA TCAAGTTTTGGGGTCGTGAGTCTTCCGAACCTCTGGAGGGACTGTCTGTG TGTTTGTGTTCATGGTAGATGACATTCACTGTGTATTTCTGAATATGACC TACTGACGTGTAGGTTTGCGTGTGAGGTTATTGCAGGGGACTCGGTTTCC TATTTTCTCTTGGGGTGTGTTTCATTCGTCAGTTGTTGGGCGGCACGGGA AGGTGAAATTTTGCTCATGTGGCACATCCGTGGATCATTCTCGCCACCTT GAATAGTGGAAACTGGAATGCATTTAGAAGATAGGAACGGTGCTCTTCTT TCTTACCCTGGCTCGCCGTTTTTACATTGGTTTCTGAAGGGACCTCAGGC GCCCTGGGACTTGTGCTCTTGCTGGAACCCACATAACGCCGGAAACAGAC AGACCGACTTGCCTGTTTCACGGGGTCCACTTCCAATGAGTCGAAACGGA AAATTTTCCCACTGGCATGTCAGTCATTTGGAACTAAGTCCTATTGATAA TAAAGGAAATCAAACACAGGAGTGTGTGTATTCAACTGAAATAAATTCAG AAAGCCCTGAAAAAAAATCTCATTTGGTGTGCTTACAAATGGCATTTGGG GAGATTCCGGGTCATTCGTCCAGCTGCGAAAGCTACACCTCTGAAGCACA GTCCCTGTCCTTCAATCAGACTTACGTATCCGACGTGGTGTTTCCGTGGA AATGATTGTGGGAAATGGCCCCTTCCTTGTCTGTATTTGCTGATTAGATT TCATGGTCCCTTTCTCGTTAGGTGCAGTGATCAAAGTTGACCAACCCCAG AGGAAAGCTGCCCAGGGCACCACTCAGGGCTCCGTAGAACCACAGAATCT TGGGCGCAACCCTGCTCAAGCACCCAAATGTGCATACGAACAGGGTCTCC GTGTGACGTGTGTGAAAACTACAGTGTGATGAGCATGACTCGCAGACAGG TTATCGATTGGGCTCCCCTCAAAATCAGTTAGGAACATGAAAGCACACCG ATGCCCAGGTCCCGGCTGCAGGAATAAGACCCTCCGACGTCTTGTGTGAA GCCACGGCATCTGCGTTGCTCATGCTTCTGGGGATCATTCTCCTGAAAAT GGTGGCTTCTTTCTCCCTGTGGAGCATCTTTCTAAGCAGTGCTCCTTTCT TCCCCCAGGACACTTTACATCAGGCGCACGAAGCCTTCTGATGGACCACA CCTGGCCCATGAAAAGACAAGGGAAAGAAACGGGGCCAAAGGTCACAGTC CTCTCATTCCATCATCCTCCTTAAAATCATCCGAATTTCATGGGCCCTGA AGCCAGGGCTGTTTCTTTAAAACTAGAGGCCTTGGCGCCGGGCCTCAATT CTGCCCTGTTCCTTACTGTCTAAGACATTTTGGGAAAATCCCTAGAGCCA GGATCTTCATTCCTGGTAAGCCAGAGAGCCTGAAGACACACCCAAATGCT GTCCCTCTTAGTTCAGGGAACATGTCCACTTTCGTCAGCATTACAATTTT TGCACCAAATGTGCTAACTGCAATTCCACCATACAATGCATAACTGGAAA TGGAGGGAACATCTCAGATCATGAACAATCGATGCGAGAATCCAGGAGAC ACACGGCTTATTTTTGCCTTTTCCCTGTGAAACAAGGGCCAGCAGTAAAA AGGTTATGCTATCTTCTGTTTCACTCCCTGCTTTTAAACGTCTCCGATGT TTTCTTCTTGAGACAGGGCCTCATTCCCGTCACCCGGGCTTTTCTACGGT ATAATTTTCCTTGTTTGCTTTTGTCAAAATTAGAACTTTTTATTTCATCT CTATGAAATGTTGAGCCATTATCACATACGTGTGGAAATAGTATCACCCA TGCTGTGAGATACGTTGTTTTGATTTTCATCAGTTCTTTAATAAACAAAA GCTTATAGTTGGGATACCTTTGGATTTCTCAAGGTTTTTGTTTCATGTTT TCTTAAACTGCCGCCGCACGTCCGAAACCACTCACTATACAATGTCAGGA CCATCTCTCTTTTCTGGCACACATAAATTTGGGGAATGTCATCAATTAGT CTCTCGGTGATTGCATGATTTCCCCAAAGTCTTTCACAGTCTACTTTGTG CGCTGAGTATCTCTTCAAACTTCAGTGCATGTTTCTACCATTTGATGCTT TAGTATTTGGCAGCCTAGCTTCCACAAGAGCATTTCATGCAAAGACCTGT CTTGTTCTCCACTGGCCGGTAATTTCACTCGGATAGAGAATCAATAGTCT GAACGTGGAAAGGTCATCGCTGGAAGGTCTGTTGGATTCCACGGATCTCT CCTTTATTATTAAGGAAAAATATACGCTGTGCTAAATACTATACTTCATT GACTATTCTCAGGTCAGAAAGTGCACTTCAGACTTCTTGTGCTTCCATCG CTGAGAGGATGATGATAGCTGCCAAAAGTACATACTTGGAAGTTCATCCC AGCACAAGCGCACACACACACACACACACACACACACACACACAGAGACA CACACACGGTTTCATAGATAAAGATTTCTTCCCTGACATTCTTTTACCTA AAATAAGGCAACTGTGTGGCCACTGTCCCAACCCGGTTACACTCATATTA TATGTGCCTATCACCCTGAGGAGTAATTTGATTCAGGTGTTCTAGAAGTC ATGATGTGGGCTGTGTCTGTTGAATTCCCAGCGATGCAAGGGGACACACC CTGTGACTCATTCCTTAATTGAGTGCTGATATTTGATTGTTTTATCGCGC ACCTGATGGGTGGGTGGGGTGTTCCCGGC	T T	transcript_ablation transcript_ablation	HIGH	HG00408.hp2 HG00741.hp1 HG02451.hp2 others(13): Show HG00408.hp2 HG00741.hp1 HG02451.hp2 HG02622.hp1 HG02723.hp2 HG02896.hp2 HG03195.hp1 HG03471.hp2 NA18522.hp2 NA18945.hp2 NA18946.hp2 NA18969.hp2 NA19030.hp2 NA19065.hp1 NA19074.hp2 NA19083.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	16	416	0.0385	-4728	c.-13 others(10): Show c.-133_*3002del	p.0? p.0?	USP17L1	ENSG00000230549.3	transcript	ENST00000529559.1	protein_coding	1/1						chr8	TogoVar
USP17L4_chr8_7332115_7343707	7332253	TTGGTGGG others(4721): Show TTGGTGGGGGTGAGTTCTATAAGGGATGATGCGGCCAGAGAGCTCGTCAT TTGAAGACTCTCTCGGAAGAGATAGCGTCTTGCTGCAACCTGCGGTCCCA GCAGAAAAACCTTGTGATCCTTGTTGCGGGCGACATGGGGGACGACTCAC TCTACTTGGGAGGTGAGTGGCAGTTCAACCACTTTTCAAAACTCACATCT TCTCGGCCAGATGCAGCTTTTGCTGAAATCCAGCGGACTTCTCTCCCTGA GAAGTCACCACTCTCATCTGAGACCCGTGTCGACCTCTGTGATGATTTGG CTCCTGTGGCAAGACAGCTCGCTCCCAGGGAGAAGCTTCCTCTGAGTAGC AGGAGACCTGCTGCGGTGGGGGCTGGGCTCCAGAATATGGGAAATACCTG CTACGAGAACGCTTCCCTGCAGTGCCTGACATACACACTGCCCCTTGCCA ACTACATGCTGTCCCGGGAGCACTCTCAAACATGTCAGCGTCCCAAGTGC TGCATGCTCTGTACTATGCAAGCTCACATCACATGGGCCCTCCACAGTCC TGGCCATGTCATCCAGCCCTCACAGGCATTGGCTGCTGGCTTCCATAGAG GCAAGCAGGAAGATGTCCATGAATTTCTCATGTTCACTGTGGATGCCATG AAAAAGGCATGCCTTCCCGGCCACAAGCAGGTAGATCATCACTGCAAGGA CACCACCCTCATCCACCAAATATTTGGAGGCTGCTGGAGATCTCAAATCA AGTGTCTCCACTGCCACGGGATTTCAGACACTTTTGACCCTTACCTGGAC ATCGCCCTGGATATCCAGGCAGCTCAGAGTGTCAAGCAAGCTTTGGAACA GTTGGTGAAGCCCGAAGAACTCAATGGAGAGAATGCCTATCATTGCGGTC TTTGTCTCCAGAGGGCGCCGGCCTCCAACACGTTAACTTTACACACTTCT GCCAAGGTCCTCATCCTTGTCTTGAAGAGATTCTCCGATGTCGCAGGCAA CAAACTTGCCAAGAATGTGCAATATCCTGAGTGCCTTGACATGCAGCCAT ACATGTCTCAGCAGAACACAGGACCTCTTGTCTATGTCCTCTATGCTGTG CTGGTCCACGCTGGGTGGAGTTGTCACGACGGACATTACTTCTCCTATGT CAAAGCTCAAGAAGTCCAGTGGTATAAAATGGATGATGCCGAGGTCACTG TCTGTAGCATCATTTCTGTCCTGAGTCAACAGGCCTATGTCCTCTTTTAC ATCCAGAAGAGTGAATGGGAAAGACACAGTGAGAGTGTGTCAAGAGGCAG GGAACCAAGAGCCCTCGGCGCTGAAGACACAGACAGGCGAGCAAAGCAAG GAGAGCTCAAGAGAGACCACCCCTGCCTCCAGGCACCCGAGTTGGACGAG CACTTGGTGGAAAGAGCCACTCAGGAAAGCACCTTAGACCACTGGAAATT CCTGCAAGAGCAAAACAAAACGAAGCCTGAGTTCAACGTCGGAAAAGTCG AAGGTACCCTGCCTCCCAACGCACTTGTGATTCATCAATCAAAATACAAG TGTGGGATGAAAAACCATCATCCTGAACAGCAAAGCTCCCTGCTAAACCT CTCTTCGACGACCCGGACAGATCAGGAGTCCATGAACACTGGCACACTCG CTTCTCTGCAAGGGAGGACCAGGAGAGCCAAAGGGAAGAACAAACACAGC AAGAGGGCTCTGCTTGTGTGCCAGTGATCTCAGTGGAAGTGCCGACCCAC ACGTAGGGGTGCACGCACACACACACACACACAAATACACCCACAAGCAC GCACGCAAACACACACACACACACCCCCAAACAAACCCGAACACCGTCAA TCCTACATAAAGTAATGAGGAGTCCAAGTTTCTGTCTCTACAACAGGGAC AACTGGATAGTGATGGCTGTATCTCAGGATGAGCCCACACATGGGAAACA TCAAGTTTTGGGGTCGTGAGTCTTCCGAACCTCTGGAGGGACTGTCTGTG TGTTTGTGTTCATGGTAGATGACATTCACTGTGTATTTCTGAATATGACC TACTGACGTGTAGGTTTGCGTGTGAGGTTATTGCAGGGGACTCGGTTTCC TATTTTCTCTTGGGGTGTGTTTCATTCGTCAGTTGTTGGGCGGCACGGGA AGGTGAAATTTTGCTCATGTGGCACATCCGTGGATCATTCTCGCCACCTT GAATAGTGGAAACTGGAATGCATTTAGAAGATAGGAACGGTGCTCTTCTT TCTTACCCTGGCTCGCCGTTTTTACATTGGTTTCTGAAGGGACCTCAGGC GCCCTGGGACTTGTGCTCTTGCTGGAACCCACATAACGCCGGAAACAGAC AGACCGACTTGCCTGTTTCACGGGGTCCACTTCCAATGAGTCGAAACGGA AAATTTTCCCACTGGCATGTCAGTCATTTGGAACTAAGTCCTATTGATAA TAAAGGAAATCAAACACAGGAGTGTGTGTATTCAACTGAAATAAATTCAG AAAGCCCTGAAAAAAAATCTCATTTGGTGTGCTTACAAATGGCATTTGGG GAGATTCCGGGTCATTCGTCCAGCTGCGAAAGCTACACCTCTGAAGCACA GTCCCTGTCCTTCAATCAGACTTACGTATCCGACGTGGTGTTTCCGTGGA AATGATTGTGGGAAATGGCCCCTTCCTTGTCTGTATTTGCTGATTAGATT TCATGGTCCCTTTCTCGTTAGGTGCAGTGATCAAAGTTGACCAACCCCAG AGGAAAGCTGCCCAGGGCACCACTCAGGGCTCCGTAGAACCACAGAATCT TGGGCGCAACCCTGCTCAAGCACCCAAATGTGCATACGAACAGGGTCTCC GTGTGACGTGTGTGAAAACTACAGTGTGATGAGCATGACTCGCAGACAGG TTATCGATTGGGCTCCCCTCAAAATCAGTTAGGAACATGAAAGCACACCG ATGCCCAGGTCCCGGCTGCAGGAATAAGACCCTCCGACGTCTTGTGTGAA GCCACGGCATCTGCGTTGCTCATGCTTCTGGGGATCATTCTCCTGAAAAT GGTGGCTTCTTTCTCCCTGTGGAGCATCTTTCTAAGCAGTGCTCCTTTCT TCCCCCAGGACACTTTACATCAGGCGCACGAAGCCTTCTGATGGACCACA CCTGGCCCATGAAAAGACAAGGGAAAGAAACGGGGCCAAAGGTCACAGTC CTCTCATTCCATCATCCTCCTTAAAATCATCCGAATTTCATGGGCCCTGA AGCCAGGGCTGTTTCTTTAAAACTAGAGGCCTTGGCGCCGGGCCTCAATT CTGCCCTGTTCCTTACTGTCTAAGACATTTTGGGAAAATCCCTAGAGCCA GGATCTTCATTCCTGGTAAGCCAGAGAGCCTGAAGACACACCCAAATGCT GTCCCTCTTAGTTCAGGGAACATGTCCACTTTCGTCAGCATTACAATTTT TGCACCAAATGTGCTAACTGCAATTCCACCATACAATGCATAACTGGAAA TGGAGGGAACATCTCAGATCATGAACAATCGATGCGAGAATCCAGGAGAC ACACGGCTTATTTTTGCCTTTTCCCTGTGAAACAAGGGCCAGCAGTAAAA AGGTTATGCTATCTTCTGTTTCACTCCCTGCTTTTAAACGTCTCCGATGT TTTCTTCTTGAGACAGGGCCTCATTCCCGTCACCCGGGCTTTTCTACGGT ATAATTTTCCTTGTTTGCTTTTGTCAAAATTAGAACTTTTTATTTCATCT CTATGAAATGTTGAGCCATTATCACATACGTGTGGAAATAGTATCACCCA TGCTGTGAGATACGTTGTTTTGATTTTCATCAGTTCTTTAATAAACAAAA GCTTATAGTTGGGATACCTTTGGATTTCTCAAGGTTTTTGTTTCATGTTT TCTTAAACTGCCGCCGCACGTCCGAAACCACTCACTATACAATGTCAGGA CCATCTCTCTTTTCTGGCACACATAAATTTGGGGAATGTCATCAATTAGT CTCTCGGTGATTGCATGATTTCCCCAAAGTCTTTCACAGTCTACTTTGTG CGCTGAGTATCTCTTCAAACTTCAGTGCATGTTTCTACCATTTGATGCTT TAGTATTTGGCAGCCTAGCTTCCACAAGAGCATTTCATGCAAAGACCTGT CTTGTTCTCCACTGGCCGGTAATTTCACTCGGATAGAGAATCAATAGTCT GAACGTGGAAAGGTCATCGCTGGAAGGTCTGTTGGATTCCACGGATCTCT CCTTTATTATTAAGGAAAAATATACGCTGTGCTAAATACTATACTTCATT GACTATTCTCAGGTCAGAAAGTGCACTTCAGACTTCTTGTGCTTCCATCG CTGAGAGGATGATGATAGCTGCCAAAAGTACATACTTGGAAGTTCATCCC AGCACAAGCGCACACACACACACACACACACACACACACACACAGAGACA CACACACGGTTTCATAGATAAAGATTTCTTCCCTGACATTCTTTTACCTA AAATAAGGCAACTGTGTGGCCACTGTCCCAACCCGGTTACACTCATATTA TATGTGCCTATCACCCTGAGGAGTAATTTGATTCAGGTGTTCTAGAAGTC ATGATGTGGGCTGTGTCTGTTGAATTCCCAGCGATGCAAGGGGACACACC CTGTGACTCATTCCTTAATTGAGTGCTGATATTTGATTGTTTTATCGCGC ACCTGATGGGTGGGTGGGGTGTTCCCGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG02451.hp2 others(10): Show HG00408.hp1 HG00741.hp2 HG02451.hp2 HG02622.hp1 HG02723.hp2 HG02896.hp1 NA18522.hp2 NA18945.hp1 NA18946.hp1 NA18969.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp2	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0001 a0010c0015 a0010c0022 others(1): Show a0001c0001 a0010c0015 a0010c0022 a0011c0010	a0001c0001t0000 a0010c0015t0000 a0010c0022t0000 others(1): Show a0001c0001t0000 a0010c0015t0000 a0010c0022t0000 a0011c0010t0000	a0001c0001t0000g0000 a0010c0015t0000g0000 a0010c0022t0000g0000 others(1): Show a0001c0001t0000g0000 a0010c0015t0000g0000 a0010c0022t0000g0000 a0011c0010t0000g0000	13	390	0.0333	-4728	c.-48 others(10): Show c.-4861_-134del		USP17L4	ENSG00000236125.3	transcript	ENST00000526929.1	protein_coding					4861		chr8	TogoVar
NBPF10_chr1_146059711_146149804	146081897	CCCTTGAG others(4720): Show CCCTTGAGTCCAAATCATACTTCTGTGAATTTTTTACATCTGCCTGGGTC CAATGTGCTGAGAGCGGGCTCAGGTTGCCACAGGCATGGCTGGAGACTAG GAATAGAGCCTTGCTCACTGACCCATTTCATGTCTAGGCTTCCAACTGAG ACTACAGTTTCATTACAACCTATATGCGCCCATAGGTCCTGCCTGCGGCA ATGACGTCTCTCGGGTCAGTAAGGGGCACTTGGAACAGGAATATCACCCC TATCTGGAAGACCAGGTGGAGGCTTATCACCTTCACAGTAAGGTACTCAC TGTCCACGTCAAGAGCCAAGCCAAGGTACTGTTCCTCCAATGAGTAAACA GCACTGCTGTAGGGCTGGCCTAAGTCAGGCAGTTCAAGATAACCTGAAGG AGTCGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTTTCT CATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTAGGAAAAAGTAAAGAAT AAGTCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGATTTCATGGCTA ACATAAGGAACTGTTTAAAAAGAAAAAGGACAGATCCATTAATGAGGTAA TGAATTATTGCCTTTATGTTGGGATAGACCAGGGCCAGGTAGAAAAGAAT GAAAGAGAAAGACAGGGAGAGGGAGAGAGAGAGAGAGGAGAAAGTGAGCT CAGCGAATTGGCCGGGTGACACACTGATGAAGGGGTCAAAGGACACTCTG AGTTAGTGCCCTCGGGACACACAGCGAACAGTGATCATGAAAAGAGTGGG CTCAATAATTTTCCATAAACTTGCTCAAGATTCCATGCAGTTGCCATACA GCCTTTGAGGTATGGTCAACCTATAGTAAGTGAGTAAATGATAAGGGGAG GAAGAAATGGAAACCTAAACATCTACTGCAATGAAAACCAACAGCAATGT CAGTAGGAGTAATTCAACCTTCGTTGAAAACATGAAATTGAACACACTCT TGTTTTCCCTGGACCTGGCATCTCCAGGTGTCAACACAGAATTAAGCATC CATAATTGCTCAAAGTTACCTGGGGCATGATGGGTCTTGGTCTTCTTCCA CTTCTTGGTACTTTTCAATTTCTGCAATAAGTTCAGACATGGACAGACAT ATTAAGCTGGTTCTCCTACACACATAACAATCCACTGTCTAATCCTCACA CAGGGACTTCAGGCTCCTCAGCATGAGAATAGGACACTGTGAGAGATAGT CTTCAGGAGGCCTGAAGGCTGATCACCATAGAGATTCCTTGGTTTTTGTC CCAGAAACTGTGGGTAAAATTCCCTATTCTGGTAGATCGTTTTCCCAATA TCATTTGTCCCAAGTTTGTGCAAATGGTTATGCCATATTTTTCCAATCGA TTTAAAGCAAATGCCCCCAAATGGCTGCTAGGAGAAAAACTGCACTATTC AGCCCTGTCTCATCAAATACTCAGATTGTTCATGGTAGTGAGGATTTTAG ACGCTGAAATTAGAGTGAAGGATGAAATCGACAAGATCTACAAAATTGAG ACAAAATCAGAGTTGTGTGAATTTGTCACATCTGCCCAGATCCAACATCT TGAGAGTAGGATTAGGGCGCCACGGGCATGGCCTGAGACTAGGAAGAGAG CCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCCAAGTGGAACTAGAGT TTCACTCAACCTACATGTGCCTATAGTTCCTCCCTGTGGCAATGACATCT CTCAGCTCAGTAAGGGCCACTTGCAGTAGGAATATGACCCTAACCAGAAG ACTCAGTGGATCCTTATCACCTTCATAGAAAGGTACTCACCATCCATGTC AACAGCCAAGCCAACATGCTGTTGCTCCAATACATAAAAGGCACTTCTGT AGGGCTGGCATGAGTCAGTCAGTTCAAGACAACCTGAAGGAGTTGAATAA CATCTATCCAGTGAGTCCTGCAAGACTTCAGGCCCTTTCTCATCCAGCAG CTCCCTGCTGAGCCTGGAAAAGTGGGAAAAAGTAAAGAATAAGCCAGGGG GAATCAGAAACCACACAGCCCCAGCTAGATTTCATGGCTAACGTAAGGAA GAGTTTGAAAAGAAAAAGGACAGATCCATTAATGAGGTAACAAATTATTG CCTTTATGTTGGGACAGAACAGGGCCAGGTAGAAAACAATGAAAGAGAAA GACAGACAGAGACAGAGACAGAGACAGAGACAGAGAGAAAGTGACCTAGT GAATTGGCCAGGTGACATACTGGTAAGGGAGTCAAAGGACACTCTGAGTT AGTGCCCTCATGACACACAGCAAACTGTGATCATGAAAAGAGTGAGCTCA ATAGTTTTCCATAAAATACGCTCAAAATTCGATGCAGTGGCCATGAGAGT ACAGCTTTTGAAGTATGGTCAACCTATGGTACGTTAGGAAATGATAAGGG GAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAAAACCAACAGCAA TGACAGTAGGAGTAATTCAGCCTTCGCTGAAAACATGTCATCAAACACAC TCTGGTTTCCCTGAATCTGTTGCCTCCAGGTGTTAACACAGAATTAAGCA TCCACAATTGCTGAAAGTCACCTGGGGCATGGTGGGTTTTGATCTTCTTC CCCTTCTTTTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTCTTCCCCTTC TTTTCTTCCCCTTCCCCTTCTTTTCAATTTCTGCAATAAATTCAGACATG GACAGACACATTAAGCTGATTCCCCTACACACATAACAATCCACTGTCTA ATCCTCACACAGGGACCTCAGGCTCCTCAGCATAAGAATAGGACACTGTG AGAGATATATTTCAGGAGGCCTGAAGGCTGGTCATGATAGAAATTCCTCG GTTTTTCTCCCAGAAACTGTGGGTAAAATGTCCCTATTCTAGTAGATCGT TATCCCAATATCATTTGTCCCAAGTTTGTGCAAACAGTTACGCCATATTT TTCCAATCAACTTAAAGCAAATACCCTCAAATGATTTCTAGGAGAAAAAC TGCAATATTTAGCCCTGTCTCATCAAATACTCAGATTGTTCATGGTTGTG AGGACTTTAGACACTGAAATTAGAGTGAAAAAGGAAATCTACAAACCCTT GAGTCAAAATCATAGTTCTCTGAATTTGTCACATCTGCCCAGGTCCAATG TCATGAGAATAGGATCAGGGCGCCACAGGTATGGCCTGAGACTAGGAAGA GAGTCTTGCTCACTGACCCATCCCTTGTCTGGGCTTCCAGGTAGAACTAG AGTTTCATTCAACCTACATGTGCCTATAGGTCCTCCCTGTGGCAATGACA TCTCTCAGCTCAGTAATGGCCACTTGGAGCAGGAATATGATCTTTATATG GAAGACTCAGTGGATCCTTATCACCTTCATAGAAAGGTACTCACCTCCCA CGTCAAGAGAAAAGCCAACATGTTTTTCCTCCAATGCATAAAAGGAACTT CCATAGGGCTGGCAGGAGTCAGGCTGTTCAAGACAACTGGAAGGAGTTGA ATAACATCTATCCAGTGAGTCCTGCAAGACTTCAGGCTCTACTACCTCCA GCAGCTCCCTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAGAATAAGCCA GGGGAAATCAGACACAACAGAGCCCCAACTAGGTTTCATGGGTAGCATAG GGAAGTGGTTAAAAAACTAAAAGGATAGATCCATTAATGAGGTAACAAAT TATTGCCTTCATGTTGGGACAGAACAGGGCCAAATGGAAAAGAATGAAAG AGAAAGACAGATAGACACACACACACACACACACACACACACACACACAC ACACACACACACACAGAGAGAGAGAGAGAGAACGAGCTCAGTGAATTGTC CAGGTGACACACTGATGAGGGAGTAACAGGACACTCTGAGTTAGTGCCCT CAGGACACACAGCATACAGGGATCATGAAAAGACTGTGCTCAATAATTTT CCATAAAACGTGCTCAAGTTTCCATGCAGTCGCCATGAGAATAGTTTTTG AAGTCTGGTCCACCTACAGTAGGATAGTAAATGATAAGGGGAGGAAGAAA TGGAAACCTAAATATCTACTGCAATGAAAACCAACAGCAATGTTAGTAGG AATAATTCAGGCTTGGTTGAAAAGATGTAATCGATAATGTCAGCCCGCAC TGTTTTCCCTGAACCAGGAGTCTCCAGATGTCAACACAGAAGTAGCTGTT CACAATTGCTCAGTTACCTGGGGCATGGTGGGCCTTGGTCTTCTTCCTCT TCTTGGTCCTTTTTAATTCCTGCAATACATTCAGACAGGGACAGACAAAA TAAGCCAATTCACCTACACCCATAACAGTCCACTGTCTAATCCCCACACA GGGATCTCAGGCTCCTCAGCATGAGAACAGGACAATGTGAGAGATATACT TCAGGAGGCCTGAAAGCTGGTCATGATATTCTTTGGTTTACATCTCAGAA CCAAGGGTGAAATATCCCCATTCTGGTACATCGTTATCCCAAAATCATTT ATCCCAAGTTTGTGCAAACAGTTATGCTTTATTGTTCACATCAGTTCAAA GAAAATGCCCCAGATGATTTCCAGGAGGAAAACTAAAGTATTCAGCCCTG TCTCATCAAATGCCCAGCTCGTTCATGGATGCAAGAATTTTAGACACTGA AATTAGAATGAAGGAGGAAATCTACAAA	C C	exon_loss_variant exon_loss_variant	HIGH	HG00558.hp1 HG00558.hp1	a0199 a0199	a0199c0202 a0199c0202	a0199c0202t0004 a0199c0202t0004	a0199c0202t0004g0234 a0199c0202t0004g0234	1	283	0.0035	-4727	c.810 others(17): Show c.8107+300_8839+299del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	70/90						chr1	TogoVar
NBPF10_chr1_146059711_146149804	146116784	CAGCGAAG others(4719): Show CAGCGAAGCCAACACGCTGTTGCTCCAATACATAAAAGGCACTTCTGTAG GGCTGGCATGAGTCAGTCAGTTCAAGACAACCTGAAGGAGTTGAATAACA TCTATCCAGTGAGTCCTGCAAGACTTCAGGCCCTTTCTCTTCCAGCAGCT CCCTGCTGAGCCTGGAAAAGTGGGAAAAAGTAAAGAATAAGCCAGGGGGA ATCAGAAACCACACAGCCCCAGCTAGATTTCATGGCTAACGTAAGGAAGA GTTTGAAAAGAAAAAGGACAGATCCATTAATGAGGTAACAAATTATTGCC TTTATGTTGGGACAGAACAGGGCCAGGTAGAAAACAATGAAAGAGAAAGA CAGACAGAGACAGAGACAGAGACAGAGAGAAAGTGACCTAGTGAATTGGC CAGGTGACATACTGGTAAGGGAGTCAAAGGACACTCTGAGTTAGTGCCCT CATGACACACAGCAAACTGTGATCATGAAAAGAGTGAGCTCAATAGTTTT CCATAAAATATGCTCAAAATTCGATGCAGTGGCCATGAGAGTACAGCTTT TGAAGTATGGTCAACCTATGGTACGTTAGGAAATGATAAGGGGAGGAAGA AATGGAAACCTAAACATCTACTGCAATGAAAACCAACAGCAATGACAGTA GGAGTAATTCAGCCTTCGCTGAAAACATGTCATCAAACACACTCTGGTTT CCCTGAATCTGTTGCCTCCAGGTGTTAACACAGAATTAAGCATCCACAAT TGCTGAAAGTCACCTGGGGCATGGTGGGTTTTGATCTTCTTCCCCTTCTT TTCTTCCCCTTCTTCTTTCCTTCTTTGATCTTCTTCCCCTTCTTTTCTTC CCCTTCCCCTTCTTTTCAATTTCTGCAATAAATTCAGACATGGACAGACA CATTAAGCTGATTCCCCTACACACATAACAATCCACTGTCTAATCCTCAC ACAGGGACCTCAGGCTCCTCAGCATAAGAATAGGACACTGTGAGAGATAT ATTTCAGGAGGCCTGAAGGCTGGTCATGACAGAAATTCCTCGGTTTTTCT CCCAGAAACTGTGGGTAAAATGTCCCTATTCTAGTAGATCGTTATCTCAA TATCATTTGTCCCAAGTTTGTGCAAACAGTTACGCCATATTTTTCCAATC AACTTAAAGCAAATACCCTCAAATGATTTCTAGGAGAAAAACTGCAATAT TTAGCCCTGTCTCATCAAATACTCAGATTGTTCATGGTTGTGAGGACTTT AGACACTGAAATTAGAGTGAAAAAGGAAATCTACAAACCCTTGAGTCAAA ATCATAGTTCTCTGAATTTGTCACATCTGCCCAGGTCCAATGTCATGAGA ATAGGATCAGGGCGCCACAGGTATGGCCTGAGACTAGGAAGAGAGTCTTG CTCACTGACCCATCCCTTGTCTGGGCTTCCAGGTAGAACTAGAGTTTCAT TCAACCTACATGTGCCTATAGGTCCTCCCTGTGGCAATGACATCTCTCAG CTCAGTAATGGCCACTTGGAGCAGGAATATGATCTTTATATGGAAGACTC AGTGGATCCTTATCACCTTCATAGAAAGGTACTCACCTCCCACGTCAAGA GAAAAGCCAACATGGTTTTCCTCCAATGCATAAAAGGAACTTCCATAGGG CTGGCAGGAGTCAGGCTGTTCAAGACAACTGGAAGGAGTTGAATAACATC TATCCAGTGAGTCCTGCAAGACTTCAGGCTCTACTACCTCCAGCAGCTCC CTGCTGAGCCTGGAAAAGGAGGAAAAAGTAAAGAATAAGCCAGGGGAAAT CAGACACAACAGAGCCCCAACTAGGTTTCATGGGTAGCATAGGGAAGTGG TTAAAAAACTAAAAGGATAGATCCATTAATGAGGTAACAAATTATTGCCT TCATGTTGGGACAGAACAGGGCCAAATGGAAAAGAATGAAAGAGAAAGAC AGATAGACACACACACACACACACACACACACACACACACACACACACAC ACACACAGAGAGAGAGAGAGAGAACGAGCTCAGTGAATTGTCCAGGTGAC GCACTGATGAGGGAGTAACAGGACACTCTGAGTTAGTGCCCTCAGGACAC ACAGCATACAGGGATCATGAAAAGACTGTGCTCAATAATTTTCCATAAAA TGTGCTCAAGTTTCCATGCAGTCACCATGAGAATACAGTTTTTGAAGTCT GGTCCACCTACAGTAGGTTAGTAAATGATAAGGGGAGGAAGAAATGGAAA CCTAAATATCTACTGCAATGAAAACCAACAGCAATGTTAGTAGGAATAAT TCAGGCTTGGTTGAAAAGATGTAATCGATAATGTCAGCCCGCTCTGTTTT CCCTGAACCAGGAGTCTCCAGATGTCAACACAGAAGTAGCTGTTCACAAT TGCTCAGTTACCTGGGGCATGGTGGGTCTTGGTCTTCTTCCTCTTCTTCG TCCTTTTTAATTCCTGCAATACATTCAGACAGGGACAGACAAAATAAGCC AATTCACCTACACCCATAACAGTCCACTGTCTAATCCCCACACAGGGATC TCAGGCTCCTCAGCATGAGAACAGGACAATGTGAGAGATATACTTCAGGA GGCCTGAAAGCTGGTCATGATATTCTTTGGTTTGCATCTCAGAACCAAGG GTGAAATATCCCCATTCTGGTACATCGTTATCCCAAAATAATTTATCCCA AGTTTGTGCAAACAGTTATGCTTTATTGTTCCCATCAGTTCAAAGAAAAT GCCCCAGATGATTTCCAGGAGGAAAACTAAAGTATTCAGCCCTGTCTCAT CAAATGCCCAGCTCGTTCATGGATGCAAGAATTTTAGACACTGAAATTAG AATGAAGGAGGAAATCTACAAACCCTTCAGTCCAAATCATACTTCTGTGA ATTTTTTACATCTGCCTGGGTCCAACGTGCTGAGAGCGGGCTCAGGTTGC CACAGGCATGGCTGGAGACTAGGAATAGAGCCTTGCTCACTGACCCATTC CATGTCTAGGCTTCCAACTGAGACTACAGTTTCATTACAACCTATATGCG CCCATAGGTCCTGCCTGCGGCAATGACGTCTCTCGGGTCAGTAAGGGGCA CTTGGAACAGGAATATCACCCCTATCTGGAAGACCAGGTGGAGGCTTATC ACCTTCACAGTAAGGTACTCACTGTCCACGTCAAGAGCCAAGCCAAGGTA CTGTTCCTCCAATGAGTAAACAGCACTGCTGTAGGGCTGGCCTAAGTCAG GCAGTTCAAGATAACCTGAAGGAGTCGAATAACATCTATCCAGTGAGTCC TGCAAGACTTCAGGCTCTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGA AAAGTAGGAAAAAGTAAAGAATAAGCCAGGGGGAATCAGAAACCACACAG CCCCAGCTAGATTTCATGGCTAACATAAGGAACTGTTTAAAAAGAAAAAG GACAGATCCATTAATGAGGTAATGAATTATTGCCTTTATGTTGGGATAGA CCAGGGCCAGGTAGAAAAGAATGAAAGAGAAAGACAGGGAGAGGGAGAGA GAGAGAGAGGAGAAAGTGAGCTCAGCGAATTGGCCGGGTGACACACTGAT GAAGGGGTCAAAGGACACTCTGAGTTAGTGCCCTCGGGACACACAGCGAA CAGTGATCATGAAAAGAGTGGGCTCAATAATTTTCCATAACCTTGCTCAA GATTCCATGCAGTTGCCATACAGCCTTTGAGGTATGGTCAACCTATAGTA AGTGAGTAAATGATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTG CAATGAAAACCAACAGCAATGTCAGTAGGAGTAATTCAACCTTCGTTGAA AACATGAAATTGAACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGG TGTCAACACAGAATTAATCATCCATAATTGCTCAAAGTTACCTGGGGCAT GATGGGTCTTGGTCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAAT AAGTTCAGACATGGACAGACATATTAAGCTGGTTCTCCTAAACACACATA ACAATCCACTGTCTAATCCTCACACAGGGACTTCAGGCTCCTCAGCATGA GAATAGGACACTGTGAGAGATATTCTTCAGGAGGCATGAAGGCTGATCAC CATAGAGATTCCTTGGTTTTTGTCCCAGAAACTGTGGGTAAAATTCCCTA TTCTGGTAGATCGTTATCCCAATATCATTTGTCCCAAGTTTGTGCAAATG GTTATGCCATATTTTTCCAATCGATTTAAAGAAATTGCCCCCAAATGGTT GCTAGGAGAAAAACTGCACTATTCAGCCCTGTCTCATCAAATACTCAGAT TGTTCATGGTAGCGAGGATTTCAGACGCTGAAATTAGAGTGAAGGATGAA ATCGACAAGATCTACAAAATTGAGACAAAATCAGAGTTGTGTGAATTTGT CACATCTGCCCAGGTCCAATGTCATGAGAGTAGGATTAGGGCGCCACAGG CATGGCCTGAGACTAGGAAGAGAGCCTTGCTCACTGACCCATCCCTTGTC TGGGCTTCCAAGTGGAACTAGAGTTTCATTCAACCTACATGTGCCTATAG GTCCTCCCTGTGGCAATGACATCTCTCAGCTCAGTAAGGGCCACTTGCAG TAGGAATATGACCCTAACCAGAAGACTCAGTGGATCCTTATCACCTTCAT AGAAAGGTACTCACCATCCATGTCAAA	C C	exon_loss_variant exon_loss_variant	HIGH	HG06807.hp2 NA19043.hp1 HG06807.hp2 NA19043.hp1	a0208 a0209 a0208 a0209	a0208c0222 a0209c0223 a0208c0222 a0209c0223	a0208c0222t0007 a0209c0223t0007 a0208c0222t0007 a0209c0223t0007	a0208c0222t0007g0264 a0209c0223t0007g0265 a0208c0222t0007g0264 a0209c0223t0007g0265	2	283	0.0071	-4726	c.274 others(9): Show c.2746_3477del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	25/90	3512/13030					chr1	TogoVar
NBPF10_chr1_146059711_146149804	146083064	ACACACAT others(4718): Show ACACACATAACAATCCACTGTCTAATCCTCACACAGGGACTTCAGGCTCC TCAGCATGAGAATAGGACACTGTGAGAGATAGTCTTCAGGAGGCCTGAAG GCTGATCACCATAGAGATTCCTTGGTTTTTGTCCCAGAAACTGTGGGTAA AATTCCCTATTCTGGTAGATCGTTTTCCCAATATCATTTGTCCCAAGTTT GTGCAAATGGTTATGCCATATTTTTCCAATCGATTTAAAGCAAATGCCCC CAAATGGCTGCTAGGAGAAAAACTGCACTATTCAGCCCTGTCTCATCAAA TACTCAGATTGTTCATGGTAGTGAGGATTTTAGACGCTGAAATTAGAGTG AAGGATGAAATCGACAAGATCTACAAAATTGAGACAAAATCAGAGTTGTG TGAATTTGTCACATCTGCCCAGATCCAACATCTTGAGAGTAGGATTAGGG CGCCACGGGCATGGCCTGAGACTAGGAAGAGAGCCTTGCTCACTGACCCA TCCCTTGTCTGGGCTTCCAAGTGGAACTAGAGTTTCACTCAACCTACATG TGCCTATAGTTCCTCCCTGTGGCAATGACATCTCTCAGCTCAGTAAGGGC CACTTGCAGTAGGAATATGACCCTAACCAGAAGACTCAGTGGATCCTTAT CACCTTCATAGAAAGGTACTCACCATCCATGTCAACAGCCAAGCCAACAT GCTGTTGCTCCAATACATAAAAGGCACTTCTGTAGGGCTGGCATGAGTCA GTCAGTTCAAGACAACCTGAAGGAGTTGAATAACATCTATCCAGTGAGTC CTGCAAGACTTCAGGCCCTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGG AAAAGTGGGAAAAAGTAAAGAATAAGCCAGGGGGAATCAGAAACCACACA GCCCCAGCTAGATTTCATGGCTAACGTAAGGAAGAGTTTGAAAAGAAAAA GGACAGATCCATTAATGAGGTAACAAATTATTGCCTTTATGTTGGGACAG AACAGGGCCAGGTAGAAAACAATGAAAGAGAAAGACAGACAGAGACAGAG ACAGAGACAGAGACAGAGAGAAAGTGACCTAGTGAATTGGCCAGGTGACA TACTGGTAAGGGAGTCAAAGGACACTCTGAGTTAGTGCCCTCATGACACA CAGCAAACTGTGATCATGAAAAGAGTGAGCTCAATAGTTTTCCATAAAAT ACGCTCAAAATTCGATGCAGTGGCCATGAGAGTACAGCTTTTGAAGTATG GTCAACCTATGGTACGTTAGGAAATGATAAGGGGAGGAAGAAATGGAAAC CTAAACATCTACTGCAATGAAAACCAACAGCAATGACAGTAGGAGTAATT CAGCCTTCGCTGAAAACATGTCATCAAACACACTCTGGTTTCCCTGAATC TGTTGCCTCCAGGTGTTAACACAGAATTAAGCATCCACAATTGCTGAAAG TCACCTGGGGCATGGTGGGTTTTGATCTTCTTCCCCTTCTTTTCTTCCCC TTCTTCTTTCCTTCTTTGATCTTCTTCCCCTTCTTTTCTTCCCCTTCCCC TTCTTTTCAATTTCTGCAATAAATTCAGACATGGACAGACACATTAAGCT GATTCCCCTACACACATAACAATCCACTGTCTAATCCTCACACAGGGACC TCAGGCTCCTCAGCATAAGAATAGGACACTGTGAGAGATATATTTCAGGA GGCCTGAAGGCTGGTCATGATAGAAATTCCTCGGTTTTTCTCCCAGAAAC TGTGGGTAAAATGTCCCTATTCTAGTAGATCGTTATCCCAATATCATTTG TCCCAAGTTTGTGCAAACAGTTACGCCATATTTTTCCAATCAACTTAAAG CAAATACCCTCAAATGATTTCTAGGAGAAAAACTGCAATATTTAGCCCTG TCTCATCAAATACTCAGATTGTTCATGGTTGTGAGGACTTTAGACACTGA AATTAGAGTGAAAAAGGAAATCTACAAACCCTTGAGTCAAAATCATAGTT CTCTGAATTTGTCACATCTGCCCAGGTCCAATGTCATGAGAATAGGATCA GGGCGCCACAGGTATGGCCTGAGACTAGGAAGAGAGTCTTGCTCACTGAC CCATCCCTTGTCTGGGCTTCCAGGTAGAACTAGAGTTTCATTCAACCTAC ATGTGCCTATAGGTCCTCCCTGTGGCAATGACATCTCTCAGCTCAGTAAT GGCCACTTGGAGCAGGAATATGATCTTTATATGGAAGACTCAGTGGATCC TTATCACCTTCATAGAAAGGTACTCACCTCCCACGTCAAGAGAAAAGCCA ACATGTTTTTCCTCCAATGCATAAAAGGAACTTCCATAGGGCTGGCAGGA GTCAGGCTGTTCAAGACAACTGGAAGGAGTTGAATAACATCTATCCAGTG AGTCCTGCAAGACTTCAGGCTCTACTACCTCCAGCAGCTCCCTGCTGAGC CTGGAAAAGGAGGAAAAAGTAAAGAATAAGCCAGGGGAAATCAGACACAA CAGAGCCCCAACTAGGTTTCATGGGTAGCATAGGGAAGTGGTTAAAAAAC TAAAAGGATAGATCCATTAATGAGGTAACAAATTATTGCCTTCATGTTGG GACAGAACAGGGCCAAATGGAAAAGAATGAAAGAGAAAGACAGATAGACA CACACACACACACACACACACACACACACACACACACACACACACACAGA GAGAGAGAGAGAGAACGAGCTCAGTGAATTGTCCAGGTGACACACTGATG AGGGAGTAACAGGACACTCTGAGTTAGTGCCCTCAGGACACACAGCATAC AGGGATCATGAAAAGACTGTGCTCAATAATTTTCCATAAAACGTGCTCAA GTTTCCATGCAGTCGCCATGAGAATAGTTTTTGAAGTCTGGTCCACCTAC AGTAGGATAGTAAATGATAAGGGGAGGAAGAAATGGAAACCTAAATATCT ACTGCAATGAAAACCAACAGCAATGTTAGTAGGAATAATTCAGGCTTGGT TGAAAAGATGTAATCGATAATGTCAGCCCGCACTGTTTTCCCTGAACCAG GAGTCTCCAGATGTCAACACAGAAGTAGCTGTTCACAATTGCTCAGTTAC CTGGGGCATGGTGGGCCTTGGTCTTCTTCCTCTTCTTGGTCCTTTTTAAT TCCTGCAATACATTCAGACAGGGACAGACAAAATAAGCCAATTCACCTAC ACCCATAACAGTCCACTGTCTAATCCCCACACAGGGATCTCAGGCTCCTC AGCATGAGAACAGGACAATGTGAGAGATATACTTCAGGAGGCCTGAAAGC TGGTCATGATATTCTTTGGTTTACATCTCAGAACCAAGGGTGAAATATCC CCATTCTGGTACATCGTTATCCCAAAATCATTTATCCCAAGTTTGTGCAA ACAGTTATGCTTTATTGTTCACATCAGTTCAAAGAAAATGCCCCAGATGA TTTCCAGGAGGAAAACTAAAGTATTCAGCCCTGTCTCATCAAATGCCCAG CTCGTTCATGGATGCAAGAATTTTAGACACTGAAATTAGAATGAAGGAGG AAATCTACAAACCTTCAGTCCAAATCATACTTCTGTGAATTTTTTACATC TGCCTGGGTCCAATGTGCTGAGAGCGGGCTCAGGTTGCCACAGGCATGGC TGGAGACTAGGAATAGAGCCTTGCTCACTGACCCATTTCATGTCTAGGCT TCCAACTGAGACTACAGTTTCATTACAACCTATATGCGCCCATAGGTCCT GCCTGCGGCAATGACGTCTCTCGGGTCAGTAAGGGGCACTTGGAACAGGA ATATCACCCCTATCTGGAAGACCAGGTGGAGGCTTATCACCTTCACAGTA AGGTACTCACTGTCCACGTCAAGAGCCAAGCCAAGGTACTGTTCCTCCAA TGAGTAAACAGCACTGCTGTAGGGCTGGCCTAAGTCAGGCAGTTCAAGAT AACCTGAAGGAGTCGAATAACATCTATCCAGTGAGTCCTGCAAGACTTCA GGCTCTTTCTCATCCAGCAGCTCCCTGCTGAGCCTGGAAAAGTAGGAAAA AGTAAAGAATAAGTCAGGGGGAATCAGAAACCACACAGCCCCAGCTAGAT TTCATGGCTAACATAAGGAACTGTTTAAAAAGAAAAAGGACAGATCCATT AATGAGGTAATGAATTATTGCCTTTATGTTGGGATAGACCAGGGCCAGGT AGAAAAGAATGAAAGAGAAAGACAGGGAGAAGGAGAGAGAGAGAGAGGAG AAAGTGAGCTCAGCGAATTGGCCGGGTGACACACTGATGAAGGGGTCAAA GGACACTCTGAGTTAGTGCCCTCGGGACACACAGCGAACAGTGATCATGA AAAGAGTGGGCTCAATAATTTTCCATAAACTTGCTCAAGATTCCATGCAG TTGCCATACAGCCTTTGAGGTATGGTCAACCTATAGTAAGTGAGTAAATG ATAAGGGGAGGAAGAAATGGAAACCTAAACATCTACTGCAATGAAAACCA ACAGCAATGTCAGTAGGAGTAATTCAACCTTCGTTGAAAACATGAAATTG AACACACTCTTGTTTTCCCTGGACCTGGCATCTCCAGGTGTCAACACAGA ATTAAGCATCCATAATTGCTCAAAGTTACCTGGGGCATGATGGGTCTTGG TCTTCTTCCACTTCTTGGTACTTTTCAATTTCTGCAATAAGTTCAGACAT GGACAGACATATTAAGCTGGTTCTCC	A A	exon_loss_variant exon_loss_variant	HIGH	HG00544.hp1 HG00544.hp1	a0181 a0181	a0181c0193 a0181c0193	a0181c0193t0004 a0181c0193t0004	a0181c0193t0004g0238 a0181c0193t0004g0238	1	283	0.0035	-4725	c.788 others(15): Show c.7883-45_8615-48del		NBPF10	ENSG00000271425.9	transcript	ENST00000583866.9	protein_coding	68/90						chr1	TogoVar

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Search Results (Total: 1673 hits)