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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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	status	chr	external
ANKRD36_chr2_97108153_97269521	97147001	TTAAACCA others(3856): Show TTAAACCATCAAAATTTTAAAGGCAGATATCAGTTACCTGTGGCCACAAG ACCGTAAGTTTTTTGTAAGCAAGACTAGGCCAGTCCTAGAAAAATATTAT TTTACTGTGCATGGAGAATACCTAAATATAGACCATGTTATGACAACTAT ATTTAGCATATATTAAAATGATATTTCTAATTCATGTCTCTACTTACTCC CTACCCAGTTAGGTTTTCTCTTTAAGTGAGCACCCTGCCTAGTTTGCTGA AGCTTTTTCTTATTTTGTGGATTCTTCTTTTTTCCTTCTATGACATTTTA GTATTTTCTTGATTTCTTTTCACTTTCTCTACCACTTTTCTTAGGGTTTA AGATCTTCTTTTATAGTTTTCATGTATGGCAGCTAAATATTCCCCATTTT CCTATAGACACAATCAGAGGTGCATAAAATTTCAGAATGTTAAGAAATCC TAGAGACTAAACAAAGTATCCTCTAGTGCTTGAATCCTTGCTTAACATCC TGATCAAGTGGTTGTTCAGGTGGAGAACCTGAAACTCAAAGAGAGAAAAT TATTTGGATACAGTAAATCAGAGAAATGAGAATTGCACTCAGGTTTCTTA GTTCAAAACGCAGTCTTCTTTTACATCATTCTGTCATTGAGTGATTTTAG TTTTAGAAAGAGGGAGTGGCTCTAGTGAACACAGTGGAAGAGGATGAGAA TTGAATGAGCTGTTGAACCTAATGAAAGTGAATAAGAATGGAATTTGCAG GGGGCAGCCAAATTTGAAGAGAAACAAACTCTTAGTTTGATAGAAATGAG GATTTTAGGGAAAAATCTGAATATTTGGTTTAATGCAAGTTTGATAAAGA TAAGGGAAATGATAACACAGGATGTTGGGAGCTATCAAGAAAGGCATATT AGAATATGGCGTTCAAGGAGTTCTGAAGAGTTTGCTGCCTTTTTGTTTGT TTAACTGGAGGAACTAACAAACTTCAAGGTTTTATTGAAAAATGTTAAAA GAATTTGAGCCACTGGAAAGAGTCTCCAGAGGAGATAGGAATGTGGTATC ATCTTCTTCCATCCCAGCTTACAGAGGGCTTAGAATCCCTCAAGAACCAG GGAGCTGGAGATTGCTTAAGTACATAGATCTGTGATCCAGGGTGGATGTC TCTTTTTTTCTGACTCTTTTCTCAATTCTCTCATGTACATGTAGGGTGGG ACAAATGTAGGATTGGCCGGCAAACCAGCAATGAAGCTTCATTTGGGTAG TTGGTAACATGCGTATGCTTGGGGTGGATGACTGAGACTAACTTACTTTC CAGAAGCAGAGGAATAGAGAGCTCCTACTCTCAATTATGTTAGCCCATCT TTTGAGAAATCTGGGCTTTCCTAGGCTGAAGATGTAGATTGGAGATTGCC ACAGATCCCTGCAGAAGAGGGATCCAGAAGTGGGAGCCCATAGGAAGGAA GATATTTAGATAGGGATGAATGAAATGGAGCTATAAGTACTTAGGAGGGA GACTTTTCCAGCAGTCTCTCTCTTGGGTATCTGAGTGTCTATGAAGGTTC TTAAGCTTGCTGGTTTTTGTGGATCTGAATAAGGCAGAATCTATATAATG ACGATAATTGGATTTTAAAATTTTTAATGTTTTAATCTTCTGTGAAGAAT ATTCCCAATAACAATCTAACAACATATACATTTGTACTTTGACTTTTGTA CACTCAGCTTTCAAACATTTGCAGTGTTTCAGGGGGCTCCCTGTAGTGTT CTAGGGTGAAAAGAATCAATGGGCCCTCTTTAAGTAGCTTACATGCTGAA GATCCAAGACTCCCATTTTCCAGTGACACAGATTAGTCTTTGAATCAGAA ATAGATAATGGAGAAGAGACCGTGCCTTTTCTACCTTGTTTTAGGTTATC AGGTTTACTGCAGTTCAGTAACAAAAGTTGTGTCAGATATCAACTGGATT TTCAGTTTAGTCTTTAGGGTAGATAATTTATAAGGACAAATTATTGTCTG GCTGTGCCATTATAATGCCTGTCACTATTTGTTATGGGTTTAAGGGTGAG TCTGCATTGGATATTTCATAGGTTGGGAGAAGTGGCAGCAGAAATAGGTA ACTGAAATGTTTTCTAAAATGGAAGCCATATCTTAATTATACCAAGAAAT ATTATTTAACATGCAGATAACTGAGTTTCCTCAGACTTTGTTTTACCATT TTTTTGGAGTGGACATACGTGTATAGACTGACGGTTTTTGTTTTCTTTTA AGAAATGAATGAGCTCATTTTTGTAATATCTTTTTGCTCTGTAGGAGTCT CTACAGACCTGATGCTGTTGCACAGCCTGTGACAGAGAATGAGTTTTCTT TGGAATCTGAGGTAGAGTACTCTCTTGTGAAATTAATTTTCTCCCTCTGA ATCTCATTTTTTATATTATTTTCTTCTAAAACTTAGCAGTTGTCTACCTA TCATTGTTTTATGTTACTATTAAAACTTTTATTAGAGATAACCATTTTAA AGAAATGGGAGGGGTTAATTTTAATTTTTTTTACTTTGGCAAATAAGAAA TAGTTGATAAATACTTTGAGAGGTGTGATCTGAAAAAAAATTGCTGGAAA ATACACAGTGACAGAAAAATGATGTTCGGGAATGCTTTCCCACAGTAGAG GATATACAAATTTTGGTCTAGGCTTATTTGAGTGTTTTTACTTTGAGTTG TATATCATATGAGTATGACTAATAATACCTCTGTTTAAATGAATCTTTAA TACATCAGATGACTTATCAAAGAAATCATGGAATCACTCTGTTACACATA GCATATAGTTTCTTTTTATTTCTTGTGCACATATTTTGATATCATACTGT ATTTTTGCAGAGCTATTTCTTTATTTTTATTCCTGGCTCTGTAATTAGAC TAAAATAATATTAGAAATTGTGGAAATTTAACTAGACATGGTATCATGTG CCTGTAGTCCCACCTATTCAAGAGATCAAGTCAGGAGAATTTCTTGAGCC CAGGATTTTAAGACCAAGCTTGACAATATAACAAGTGCTTATCTCTAATT TTAAAAAGTTGTGGAATATTAGAAATTCAAATTCTGTTCTCAAATCTGTA TTAGAGAGGGTTTACACTGTGTTTTCCAAGCCTTTTTTATTTAGAGTATA CTTTAAACTCTTTATTTAATTGAAAAATATGCATTTTGTTTAAATAACCT GTTTGATAAACAGAGACTCTTCATATTTTATGGTCAGACTTTAATTTCAC AATGTTTTTGAATTGTAATTAAAAAGAATCCACTCAGGGTCTTTGTATGG CATTCTAAATTTCAAATTTCAGAGGCTTTTGTGCTTAGTTATTGAAAAAA TAATTGTAAAGCTCCTGCATTACTATGAGGCACTTGAAACTAGAAAACCT ATTTGTATGTGTCCTGGAATACACAGAATAAGGTCTTGCATGTAAGAAAC ACTTTAATAGTTTTTAATGTGAATCAACAAACAGGTAAATGGGCTTTCTC ATGATGGAATGTTACAGGTAACCTAATATGCATGACATATCTAATAATTA AATCTATTAAATGTCTTGAATGTTTTGAATTTATCTTTTTTTCTAATGTT GAGAATGTATAAGTTGAGGTGAGTTATGTTGAGAAAATATGTCATATAGA AGAAAATAAAATTTAGAAAAGATGAAAAGGAAATAGGAGAGGTGGATACA GCCTAATATCTTCCAACTGGAAGCTTAGATTAGGATTTTAGATTAAATTT TCTTAAATTTTTAAAGCCCCAATCATGTTCTATTAAATACCTTTTTTTTG GGACATACATTACTCTTTCAAATTCTGAATAAAAATTCTTTCTCCAGGTG TTAAGTTGCTGGAA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19056.hp2 NA19056.hp2	a0019 a0019	a0019c0032 a0019c0032	a0019c0032t0007 a0019c0032t0007	a0019c0032t0007g0127 a0019c0032t0007g0127	1	212	0.0047	-3863	c.103 others(18): Show c.1034+487_1102-1014del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	12/76				INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97147002	TAAACCAT others(3855): Show TAAACCATCAAAATTTTAAAGGCAGATATCAGTTACCTGTGGCCACAAGA CCGTAAGTTTTTTGTAAGCAAGACTAGGCCAGTCCTAGAAAAATATTATT TTACTGTGCATGGAGAATACCTAAATATAGACCATGTTATGACAACTATA TTTAGCATATATTAAAATGATATTTCTAATTCATGTCTCTACTTACTCCC TACCCAGTTAGGTTTTCTCTTTAAGTGAGCACCCTGCCTAGTTTGCTGAA GCTTTTTCTTATTTTGTGGATTCTTCTTTTTTCCTTCTATGACATTTTAG TATTTTCTTGATTTCTTTTCACTTTCTCTACCACTTTTCTTAGGGTTTAA GATCTTCTTTTATAGTTTTCATGTATGGCAGCTAAATATTCCCCATTTTC CTATAGACACAATCAGAGGTGCATAAAATTTCAGAATGTTAAGAAATCCT AGAGACTAAACAAAGTATCCTCTAGTGCTTGAATCCTTGCTTAACATCCT GATCAAGTGGTTGTTCAGGTGGAGAACCTGAAACTCAAAGAGAGAAAATT ATTTGGATACAGTAAATCAGAGAAATGAGAATTGCACTCAGGTTTCTTAG TTCAAAACGCAGTCTTCTTTTACATCATTCTGTCATTGAGTGATTTTAGT TTTAGAAAGAGGGAGTGGCTCTAGTGAACACAGTGGAAGAGGATGAGAAT TGAATGAGCTGTTGAACCTAATGAAAGTGAATAAGAATGGAATTTGCAGG GGGCAGCCAAATTTGAAGAGAAACAAACTCTTAGTTTGATAGAAATGAGG ATTTTAGGGAAAAATCTGAATATTTGGTTTAATGCAAGTTTGATAAAGAT AAGGGAAATGATAACACAGGATGTTGGGAGCTATCAAGAAAGGCATATTA GAATATGGCGTTCAAGGAGTTCTGAAGAGTTTGCTGCCTTTTTGTTTGTT TAACTGGAGGAACTAACAAACTTCAAGGTTTTATTGAAAAATGTTAAAAG AATTTGAGCCACTGGAAAGAGTCTCCAGAGGAGATAGGAATGTGGTATCA TCTTCTTCCATCCCAGCTTACAGAGGGCTTAGAATCCCTCAAGAACCAGG GAGCTGGAGATTGCTTAAGTACATAGATCTGTGATCCAGGGTGGATGTCT CTTTTTTTCTGACTCTTTTCTCAATTCTCTCATGTACATGTAGGGTGGGA CAAATGTAGGATTGGCCGGCAAACCAGCAATGAAGCTTCATTTGGGTAGT TGGTAACATGCGTATGCTTGGGGTGGATGACTGAGACTAACTTACTTTCC AGAAGCAGAGGAATAGAGAGCTCCTACTCTCAATTATGTTAGCCCATCTT TTGAGAAATCTGGGCTTTCCTAGGCTGAAGATGTAGATTGGAGATTGCCA CAGATCCCTGCAGAAGAGGGATCCAGAAGTGGGAGCCCATAGGAAGGAAG ATATTTAGATAGGGATGAATGAAATGGAGCTATAAGTACTTAGGAGGGAG ACTTTTCCAGCAGTCTCTCTCTTGGGTATCTGAGTGTCTATGAAGGTTCT TAAGCTTGCTGGTTTTTGTGGATCTGAATAAGGCAGAATCTATATAATGA CGATAATTGGATTTTAAAATTTTTAATGTTTTAATCTTCTGTGAAGAATA TTCCCAATAACAATCTAACAACATATACATTTGTACTTTGACTTTTGTAC ACTCAGCTTTCAAACATTTGCAGTGTTTCAGGGGGCTCCCTGTAGTGTTC TAGGGTGAAAAGAATCAATGGGCCCTCTTTAAGTAGCTTACATGCTGAAG ATCCAAGACTCCCATTTTCCAGTGACACAGATTAGTCTTTGAATCAGAAA TAGATAATGGAGAAGAGACCGTGCCTTTTCTACCTTGTTTTAGGTTATCA GGTTTACTGCAGTTCAGTAACAAAAGTTGTGTCAGATATCAACTGGATTT TCAGTTTAGTCTTTAGGGTAGATAATTTATAAGGACAAATTATTGTCTGG CTGTGCCATTATAATGCCTGTCACTATTTGTTATGGGTTTAAGGGTGAGT CTGCATTGGATATTTCATAGGTTGGGAGAAGTGGCAGCAGAAATAGGTAA CTGAAATGTTTTCTAAAATGGAAGCCATATCTTAATTATACCAAGAAATA TTATTTAACATGCAGATAACTGAGTTTCCTCAGACTTTGTTTTACCATTT TTTTGGAGTGGACATACGTGTATAGACTGACGGTTTTTGTTTTCTTTTAA GAAATGAATGAGCTCATTTTTGTAATATCTTTTTGCTCTGTAGGAGTCTC TACAGACCTGATGCTGTTGCACAGCCTGTGACAGAGAATGAGTTTTCTTT GGAATCTGAGGTAGAGTACTCTCTTGTGAAATTAATTTTCTCCCTCTGAA TCTCATTTTTTATATTATTTTCTTCTAAAACTTAGCAGTTGTCTACCTAT CATTGTTTTATGTTACTATTAAAACTTTTATTAGAGATAACCATTTTAAA GAAATGGGAGGGGTTAATTTTAATTTTTTTTACTTTGGCAAATAAGAAAT AGTTGATAAATACTTTGAGAGGTGTGATCTGAAAAAAAATTGCTGGAAAA TACACAGTGACAGAAAAATGATGTTCGGGAATGCTTTCCCACAGTAGAGG ATATACAAATTTTGGTCTAGGCTTATTTGAGTGTTTTTACTTTGAGTTGT ATATCATATGAGTATGACTAATAATACCTCTGTTTAAATGAATCTTTAAT ACATCAGATGACTTATCAAAGAAATCATGGAATCACTCTGTTACACATAG CATATAGTTTCTTTTTATTTCTTGTGCACATATTTTGATATCATACTGTA TTTTTGCAGAGCTATTTCTTTATTTTTATTCCTGGCTCTGTAATTAGACT AAAATAATATTAGAAATTGTGGAAATTTAACTAGACATGGTATCATGTGC CTGTAGTCCCACCTATTCAAGAGATCAAGTCAGGAGAATTTCTTGAGCCC AGGATTTTAAGACCAAGCTTGACAATATAACAAGTGCTTATCTCTAATTT TAAAAAGTTGTGGAATATTAGAAATTCAAATTCTGTTCTCAAATCTGTAT TAGAGAGGGTTTACACTGTGTTTTCCAAGCCTTTTTTATTTAGAGTATAC TTTAAACTCTTTATTTAATTGAAAAATATGCATTTTGTTTAAATAACCTG TTTGATAAACAGAGACTCTTCATATTTTATGGTCAGACTTTAATTTCACA ATGTTTTTGAATTGTAATTAAAAAGAATCCACTCAGGGTCTTTGTATGGC ATTCTAAATTTCAAATTTCAGAGGCTTTTGTGCTTAGTTATTGAAAAAAT AATTGTAAAGCTCCTGCATTACTATGAGGCACTTGAAACTAGAAAACCTA TTTGTATGTGTCCTGGAATACACAGAATAAGGTCTTGCATGTAAGAAACA CTTTAATAGTTTTTAATGTGAATCAACAAACAGGTAAATGGGCTTTCTCA TGATGGAATGTTACAGGTAACCTAATATGCATGACATATCTAATAATTAA ATCTATTAAATGTCTTGAATGTTTTGAATTTATCTTTTTTTCTAATGTTG AGAATGTATAAGTTGAGGTGAGTTATGTTGAGAAAATATGTCATATAGAA GAAAATAAAATTTAGAAAAGATGAAAAGGAAATAGGAGAGGTGGATACAG CCTAATATCTTCCAACTGGAAGCTTAGATTAGGATTTTAGATTAAATTTT CTTAAATTTTTAAAGCCCCAATCATGTTCTATTAAATACCTTTTTTTTGG GACATACATTACTCTTTCAAATTCTGAATAAAAATTCTTTCTCCAGGTGT TAAGTTGCTGGAA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19079.hp2 NA19079.hp2	a0019 a0019	a0019c0031 a0019c0031	a0019c0031t0007 a0019c0031t0007	a0019c0031t0007g0126 a0019c0031t0007g0126	1	212	0.0047	-3862	c.103 others(18): Show c.1034+487_1102-1015del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	12/76					chr2	TogoVar
ANKRD46_chr8_100515772_100564759	100533208	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	400	0.0025	0	c.-28 others(5): Show c.-28+1G>A		ANKRD46	ENSG00000186106.11	transcript	ENST00000335659.7	protein_coding	2/4					chr8	TogoVar
ANKRD7_chr7_118219704_118247732	118236927	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	406	0.0025	0	c.712 others(5): Show c.712+1G>A		ANKRD7	ENSG00000106013.15	transcript	ENST00000265224.9	protein_coding	5/6					chr7	TogoVar
ANKS3_chr16_4691511_4739271	4731511	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	374	0.0027	0	c.-3+ others(4): Show c.-3+1G>A		ANKS3	ENSG00000168096.15	transcript	ENST00000304283.9	protein_coding	2/17					chr16	TogoVar
ANO2_chr12_5557655_5950259	5832451	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	162	0.0062	0	c.785 others(5): Show c.785+1G>A		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	5/24					chr12	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
ANOS1_chrX_8523874_8737137	8570497	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0022 a0003c0005t0001g0022	1	231	0.0043	1	c.106 others(7): Show c.1062+1dupG		ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	7/13					chrX	TogoVar
ANXA11_chr10_80145889_80210537	80172806	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0066 a0002c0002t0003g0066	1	386	0.0026	0	c.55+ others(4): Show c.55+1G>A		ANXA11	ENSG00000122359.18	transcript	ENST00000422982.8	protein_coding	3/15					chr10	TogoVar
ANXA8_chr10_47462993_47489115	47475492	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	412	0.0024	0	c.492 others(5): Show c.492+1G>A		ANXA8	ENSG00000265190.7	transcript	ENST00000585281.6	protein_coding	6/11					chr10	TogoVar
AOX1_chr2_200581014_200676495	200593204	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0111 a0002c0002t0003g0111	1	370	0.0027	0	c.103 others(5): Show c.103+1G>A		AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	2/34					chr2	TogoVar
AOX1_chr2_200581014_200676495	200603357	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	370	0.0027	0	c.588 others(5): Show c.588+1G>A		AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	7/34					chr2	TogoVar
AP5Z1_chr7_4770623_4799397	4775757	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0049 a0001c0002t0015g0049	1	340	0.0029	0	c.41+ others(4): Show c.41+1G>C		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	1/16					chr7	TogoVar
APBA3_chr19_3745772_3766692	3759559	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19058.hp2 NA19058.hp2	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0003 a0018c0024t0003	a0018c0024t0003g0180 a0018c0024t0003g0180	1	450	0.0022	0	c.616 others(5): Show c.616+2T>G		APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	3/10					chr19	TogoVar
APOBEC3B_chr22_38977347_38997779	38984232	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0211 a0003c0017t0001g0211	1	354	0.0028	0	c.174 others(5): Show c.174+1G>T		APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	2/7					chr22	TogoVar
APOC3_chr11_116824907_116838072	116830638	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 NA18947.hp1 HG00099.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0121 a0001c0002t0001g0120 a0001c0001t0001g0121 a0001c0002t0001g0120	2	450	0.0044	0	c.55+ others(4): Show c.55+1G>A		APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	2/3					chr11	TogoVar
APOC3_chr11_116824907_116838072	116830897	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	450	0.0022	0	c.179 others(5): Show c.179+1G>T		APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	3/3					chr11	TogoVar
APOL2_chr22_36221209_36244527	36239298	CGGCTCTG others(622): Show CGGCTCTGCCACTGCTTTCCTGTCTGATCTGAACCAGCTACCTAACCTCT CTGAGCTTATCTACAAAAGCTGAATGATCCTTCCCTTATAGAGCTATTGC AAGAATAAGGACATGGGGGTAGATCACACTATCCCCAACTTACCAAGGGA TCTTCCTCTGACAGAGACTGAGCAAGATCCAACTGTTCTGAGCTGTGTGG ATCCCACGTCCAGCTGTGCATCTGTGTAATAACCAGACACGTCCTCCGGC CTCCCAGATATACCCTGGAATTCGAAAGGGAAAGTGAAAGTCACAACTTC CCAGCAGCTCATGACCAAGCACAGTAAACACGCTGCTCCCCAGCACCACC TGCAGTCCAGGCCCAGCCTCCTTGCTGCTGCACTTAGAGGAGCAGCCGCA GACCAGACATCCGGGTCCCTCTCATCCAACCCACCTGCCTCACATCCTCA GGATTCAAGGTCTGCTGTGTCAGCTGCCCATGTCTCAGGCAGTCAGAACC AGAGTTGAGCCTGGGGAGTTTTTTGAACCCATCTGAGCCGCTTGCCCCCC AACCCCCGCCCCGATCTCTGCAGTTTAAGGGCACAGCAGGTGGGGGAGAG AAGTCAGACTCAAGCCTCAGTGCAATTCCA	C C	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0055 a0001c0001t0056g0055	1	384	0.0026	-629	c.-62 others(13): Show c.-620_-134+142del		APOL2	ENSG00000128335.14	transcript	ENST00000358502.10	protein_coding	1/5					chr22	TogoVar
APOL4_chr22_36184128_36206809	36201698	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(55): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01070.hp2 HG01106.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02056.hp2 HG02074.hp1 HG02135.hp2 HG02165.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 NA18943.hp1 NA18951.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18972.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19063.hp2 NA19067.hp2 NA19075.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0003c0004 a0003c0018 a0004c0006 a0005c0008 a0006c0011	a0001c0001t0001 a0001c0001t0028 a0002c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0028 a0002c0002t0002 a0002c0002t0023 a0002c0003t0019 a0002c0005t0005 a0003c0004t0006 a0003c0004t0010 a0003c0004t0017 a0003c0018t0018 a0004c0006t0008 a0005c0008t0001 a0006c0011t0014	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0028g0063 a0002c0002t0002g0022 a0002c0002t0002g0061 a0002c0002t0002g0069 a0002c0002t0023g0078 a0002c0003t0019g0067 a0002c0005t0005g0006 a0002c0005t0005g0032 a0002c0005t0005g0065 a0002c0005t0005g0066 a0003c0004t0006g0073 a0003c0004t0010g0074 a0003c0004t0010g0075 a0003c0004t0017g0056 a0003c0018t0018g0062 a0004c0006t0008g0015 a0004c0006t0008g0076 a0004c0006t0008g0077 a0005c0008t0001g0021 a0005c0008t0001g0059 a0006c0011t0014g0029	58	434	0.1336	0	c.35+ others(4): Show c.35+2T>G		APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	1/3					chr22	TogoVar
APOO_chrX_23828353_23912938	23856299	C C	CA CA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19086.hp1 NA19086.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0035 a0004c0004t0001g0035	1	269	0.0037	1	c.561 others(6): Show c.561+2dupT		APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/8					chrX	TogoVar
ARHGAP4_chrX_153902378_153931264	153910169	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19076.hp1 NA19076.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0108 a0014c0022t0001g0108	1	308	0.0033	1	c.215 others(7): Show c.2156+1dupG		ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	17/21					chrX	TogoVar
ARHGEF18_chr19_7343937_7477478	7459995	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18944.hp1 NA18944.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0207 a0003c0003t0002g0207	1	298	0.0034	0	c.245 others(6): Show c.2452+1G>T		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	20/28					chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7459996	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18944.hp1 NA18944.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0207 a0003c0003t0002g0207	1	298	0.0034	0	c.245 others(6): Show c.2452+2T>G		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	20/28					chr19	TogoVar
ARHGEF38_chr4_105547620_105685914	105656685	ATTATAGG others(5274): Show ATTATAGGCATTTTGGGTAAGACAAATCTTCATGGAGTGGCCTTTTGGTG GAGGATGTTCAGCATTTTTGGCCCACCAGGCTCAAAATCTCAGTAACATC CCCTCACATCAAGACGTTGTGACAACCAGTGAAGAGCCTCACATAATTCC AAACCCTAGGAAGTCATACAGCCCCCGATCTAGTAGAAAAACCAGGCAGG AGCATTTTGCTTTTCTGGCACTGGGGAATGGAAAGTCAGGCTTACATCTG AGCTAATATGATAGAGAAACAGGTCAACGACAGATGAATGGATGGATGGA TAGGTACAGGCAGATAGATGATGGTGATGATGAGATAGATAGATGATAGA TAGATAGATAGATAGATGATAGATAGATAGATAGATAGATAGTTTTTACA GTATATGTTTAATGGAAAAGGTGTGGCTAGTTCTTTATGTATTTTCTGCA TTTAATTATAGAGAGCACACATTCTAGAAGTCTTTAAAGGTTTGCTCTTT AGCTTAGTTCCAATACATTAAGTTAATATATATTTATTGAGTACCACCTG AAAGTGTGATATGTAGCTTCTCCCTCAGCAAGCATGCTCCAGACTTTGAT GGAAAGAAGCCAGAAGTGTCCTGCATACCTTGCATAAAACCACAAGATGA TTAATTAGGCTAAGTTAAAAAAATTGTGAGAAGGCTCAATATAAAAGTAA CTTTTATGGATAACATATATAGAACTCTTTTTAAAAATCAAATATTAAGA ACTCAAAATCTGTCTAAAGGCAGAGCAGTTATTCTTATCTAACCATGAGT AATACATATCTACACTTTTTTAGGACAAAATAATAAAGTCTAATTCTTAT TTGTTCTAACAACAATTCCTAAGTAAAGGTGAATCATTTTGTGTCTGTGA GTCACTGGATATATATATATATATAATACTGTAATTAGATTACCTGTAGA ATCCAGTCAAGTCACAAACATAGTAATTTATCCCAGATACAGTAAATAGA TTCTTTGTTTATCAAGGGACTCATTAAACAGTCTCTAGGTGTATATTGAC TATCTCATAAGCTAGACATCAAATTTAATTTGTGTTGGCTATTGCTGGTG CCAATAAGAGATTGGTTTCCCTCTCCCCTAGATTTCCCATGAGTTCAGAC CAACTTACCAGGGGCCATTTAAGTTAATTAATACAAGCTGCTGCTCAGAT ACTGATTCCCTAGGATAGCTTTCGGGTTACAAAAGAGAAACCTACTTCCA AATTATCATAAAATATCATATAAGCATATATGATAAAGGGTAAAGTAGGG CAGTCAGCAAATGTAAAACAGAAGAGAAATAGAAGAAATTAAATCTAGGA TGATCAGGTTATGTCATGAAGTTGGGCAGTTCTATGAAGTTCATTTTCAA TGACTCAGGCCAAAAAGTGTAAACAATTTAAGACACAGAAACAGCATCAG CTTAATCCTTTAATGTATTTAAAACAGAATGTGTAGGCCAAGGTGAGAGG ATTGCTTGAGCCTAAGTGCTCAAGACCATCTTGGGCAATAGAGTGAGACC GTATCTCTACCAAAAATTTTAAAAATTAGCCAAGCGTGGTGATACATTCC TGTAGTCCTAGCTATTCGGGAGGCTGAGGTGGGAGGATGGCTTGAGCAGA GGCTGCAGTGAGCTGAGAAAGTGCCACTGCACTCCAGCCTGGGCGACAGA GTGAGACCCTGTCTCAAAATTAATTAATTAATTAAAAATAAAACAAGTTA CAACTCTGTGGTCATTTCTGTTTCAAGATTAAAATACCTTTATTAAGGGG TTACTATCTGTATAGGGGATATAATTCCACTATCAAACATAAGCCTCCAG GGTAGCCAGGGATTTGGGGCTGATATGGGAAGAATAGGGTACAGTCTCCT ATGGGATGAACTATATTCCTTTTGCTGCCAGCAGAAGGTGGGAGCGATAT GGTGAATCTTTTACACAGTCTTGGTAGTCAAAGGCTAGAGATTCCCCCCT ACCCTCAAGTGCTGGCTCTGGGATGAGAAAGGAGGGGAATGAGAAAGTGT TGAAGGAGATGACAATGACAAAACCAAAGACTGTAGAGAAAAAAGTGGAG TTATATTTTGGGTGAGCAGGCTTTAACTTTTGTATTCCTCTTCCTGCTCA CTTTTTAGGTTCAATGTTACAACCTAGAGCTCCTGTTTTAAGTCTTTGAA TAGGTTTAGCCAGACACAAAATGATCAGATCCTCTTTTAATCTGGGTAGG TGCTTTCCTGTTTTCTTTTGTGCTTCTCGTGGGGGAAAAGGTAAACCTAT GGATAGCAGAACTGGACAAGGTATGGGCTGATCCTCTCTCTGAAATGGGC TCATTTTTTCTTTTGGCAGGCATCTCACTTACAGAGACTCATCCTGACCC CCTTGTCAGCCCTGCTGTCCTTATTCCCAGGGCCTCACAAGCTCATCCAG AAACGCTATGACAAACTGCTGGATTGCAACAGCTACCTGCAGCGATCAAC GGGAGAGGAGTCAGACTTGGCCAAAAAGGAGTATGAGGCCCTCAACGCCC AGCTTGTGGAGGAGCTCCAGGCATTCAACCAGGCTGCTCGGAAGATTCTG TTGAACTGTCTATGCAGCTTCATTACCCTCCTTAGGGACCTGATGCTCGT GGCACAGCAGGCTTACTCCACACTTGTGCCGGTAAGCACAGCACCAACAC CTAGCTAGCTACCTTGGCCTACTGGATCTGCTAGAAACCACACCCATACG AAAGCCCTGTTCAGAGTGTGCACATGTATGCCGTGTGGTGTGTGTGTATT TATTTTAACTAAATCCAGTCAGATAGTCTCCTGTTCCTTATCTGTCTTAT CCATGGGAAACTCAAAGAGGGTTTCCTAGTTCAGGTTTACTGTGACTTAC ACATTTGTAATTCTTTTTTGGAGATGCCTTTTCAAATACCAAACACCTTT CAGCCTTGCTCCACCTGCCTGATGCAACATTGAAGCTTATCAACAATTTA TATTTTGTATTTTTTTCTGATCAATAGTTCTTAGATGTTAACTGTGACTA TTTAAGATGTGGCTCTAAAAAGAAGGCCATCTCAGCATAATGAAAGATGC AGGATAACATTCAAACCATGCTTTGTTTTGATTTCATTTTTCCCCAAGAA AGAGAAGCCTGGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTAGCTTCGCCTCCCATTAGGATATAATTTTATAATTATTTTCCTGAT GAGGAAGAAAGATATTTACAACTTATATCAACTTTTGAAAAATTAGCTTG GTTTCTTGGCCCTACGTTTCAACTACACTAGTTCTCATCTGAATGAGATG GACAGCTATTCAATGGGTAACACCTGGAGCAGAAATAATTGTCCCTACTT TATTTTCTATTGTGCATTAATTAACTTTTAACTTATACTTTGAATTAAAT TAAATTGAATAAACGAGGGCTATGTTTACAGGGTTCAAAAGCCAAAACTG TGTAAATGTATAATCAGTCTCACACTCATACCTGTTCCTCTAGCATCCCA TTCGCCACTCTCATCCCCATTTTTGTTAGTTTATTTTTATGCATTTAGTG CTTTCTCATGCCAGTAACAATAAATGCAAGTATATATTTTTATTTCTTAA AAGTAAAAAACAGCATATTATATATACCATTCTGCACTTGCTCTTTAACA ATATATTCTGAGAATGCATCTATAATAGTACATAAAGAGCTTCCTCATTC TTTTTTTTTTTTTTGGTGGGGGGGGATGGAGTTTCACTTTTGTTGCCCAG GTTGGAGTGCAAAGGCCCAATCTCGGCTCACTGCAACCTCCACCTTCCGG GTTCAAGCGATTTTCCTGCCTCAGCCTCCTAAGTAGCTGGGATTACAGGC ATGTGCCATCAAGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTT TCTCCATTTTGGTCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCCAC TCGCCTCGGCCTTCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCC CAGCCTGAGCTTCCTAATTCTTTTTACAGCTTTATAGTAACTTACTGCAT GGCTGTATAATAATGTATAACCATTCCCTTTTTTTAAAATAACTTTATTG TGATATAATTTGTATACCATACATTCCACCTATTTAAAGTATACAATTTG ATTATTTTTAGTATATTCACAAGAGTTGTGCAGCCATTGCCACAACCAAT TTTAGAACATTGTCGTGGCCCCCTAAAGGAACCCTGTACCCATCCACATT TTTTCCTAACCTCCCCAGCTCTAGGCAACTATCAATTTACTTTCTGCCTG TACAGATTTTCCTATTCTGGGCATTTTGTATAAATGAAATCATACAGTAC ATGGTTATTTGTGACTGGCTTCTTCTATTTAGCATAACATTTCAGGGTTT CTTCATGCCTAGCATGTTTCATTATTTCATTCATTTTATCGCCAAATAAC ATTCCATTGTATGAATATACCACACTTTACTTATTCATTCGTCAGTTGAC GGGCATTTGGGTTATTTCCATTTTTTGGCTGTTATTAGTAATGCTTCTGT AAACATTCAAGTTTTTAGTGGATATATGTTCCCATTTCTGTTGATTATAT ACCTAGGAGTGGAATTTCTGGATCATATGTTAACTCTATGTTTAACCTTT TGAAAAACAACCAGACTGTTTTCCAAAGTGGCTGCACTATTTTATCTTCT CAGCAGTATCGACTGAGAGTTTCAATTTCTCCACACCTCTTTATTATTAT TATTATTATTATTATTATTATTATTATTATTATTGTTATAGCTATCCTAA TGGGTGTGCAGTGGTATCTCATTGTGGTTTTTATTTGTATTTCCCTGATC AGCACTGTTTTAAAACTCATTAAATTGAAGTAATAACTTCTATACATTAA ACTGCACCAGTCTGAACTGCACATCTCAATCAATATTTGCATATACACAT CTGTGTAACTACCACCCAGATCAAGATATAATCCCTTTCCAGTTCCCCAT AAAGATCACTCATGACCATTCCCAGGCACCTAAAGGTAACCATTTTTCTA ACCTGTATTACCATACATTGTTTGACCTGTTTTGTACTTCATATAAATGG AATCATACAATATGTATTCTTTTGTGTATTAACCTGTCCCTATTGATGAG TATTTGATCTATTTCCAACGTTTTTTTATTACAAATAATGCCGGGGTCAT GATACGTGGACAGATGTATCTGTAGGACAGAT	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02004.hp1 HG02004.hp1	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0005 a0007c0019t0005	a0007c0019t0005g0005 a0007c0019t0005g0005	1	186	0.0054	-5281	c.123 others(18): Show c.1233+970_1545+2607del		ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	10/14				INFO_REALIGN_3_PRIME	chr4	TogoVar
ARL1_chr12_101388116_101412772	101407641	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0135 a0002c0002t0017g0135	1	398	0.0025	0	c.4+1 others(3): Show c.4+1G>C		ARL1	ENSG00000120805.14	transcript	ENST00000261636.13	protein_coding	1/5					chr12	TogoVar
ARPC5L_chr9_124857130_124882733	124862400	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19076.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0010g0002 a0001c0001t0015g0144 a0001c0001t0017g0133 a0001c0001t0021g0132 a0001c0001t0022g0054 a0001c0001t0027g0031	114	404	0.2822	0	c.-98 others(6): Show c.-984+2A>T		ARPC5L	ENSG00000136950.13	transcript	ENST00000353214.6	protein_coding	1/5					chr9	TogoVar
ARRB1_chr11_75255122_75356661	75281074	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0228 a0001c0001t0048g0228	1	320	0.0031	0	c.482 others(5): Show c.482+1G>T		ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	7/15					chr11	TogoVar
ARSH_chrX_3001546_3039111	3027474	A A	AG AG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19006.hp1 NA19006.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0061 a0009c0011t0001g0061	1	248	0.0040	1	c.119 others(7): Show c.1199+1dupG		ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	7/8				INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSL_chrX_2929521_2969341	2943063	AC AC	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	328	0.0031	-1	c.112 others(7): Show c.1126+1delG		ARSL	ENSG00000157399.17	transcript	ENST00000381134.9	protein_coding	8/10					chrX	TogoVar
ARX_chrX_24998694_25020965	25012919	T T	TA TA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	300	0.0033	1	c.107 others(7): Show c.1073+2dupT		ARX	ENSG00000004848.8	transcript	ENST00000379044.5	protein_coding	2/4					chrX	TogoVar
ASAP2_chr2_9201812_9410678	9376995	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0100 a0002c0001t0001g0100	1	210	0.0048	0	c.183 others(6): Show c.1832+2T>G		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	18/27					chr2	TogoVar
ASB18_chr2_236188459_236269406	236241279	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0020 a0003c0004t0020	a0003c0004t0020g0200 a0003c0004t0020g0200	1	250	0.0040	0	c.328 others(5): Show c.328+1G>A		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	2/5					chr2	TogoVar
ASCC3_chr6_100503194_100886329	100767144	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02818.hp1 HG02818.hp1	a0019 a0019	a0019c0016 a0019c0016	a0019c0016t0002 a0019c0016t0002	a0019c0016t0002g0160 a0019c0016t0002g0160	1	314	0.0032	0	c.159 others(6): Show c.1596+1G>T		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	9/41					chr6	TogoVar
ASTL_chr2_96117818_96143502	96137573	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	396	0.0025	0	c.181 others(5): Show c.181+2T>C		ASTL	ENSG00000188886.4	transcript	ENST00000342380.3	protein_coding	2/8					chr2	TogoVar
ATOSB_chr9_35099117_35120862	35107379	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01256.hp2 HG01256.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0142 a0011c0019t0001g0142	1	432	0.0023	0	c.894 others(5): Show c.894+2T>A		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	3/8					chr9	TogoVar
ATOSB_chr9_35099117_35120862	35115803	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	432	0.0023	0	c.-22 others(6): Show c.-220+2T>A		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	1/8					chr9	TogoVar
ATOSB_chr9_35099117_35120862	35115804	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	432	0.0023	0	c.-22 others(6): Show c.-220+1G>C		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	1/8					chr9	TogoVar
ATP1A4_chr1_160146603_160191980	160174748	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18950.hp1 NA19063.hp2 NA19091.hp2 NA18950.hp1 NA19063.hp2 NA19091.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0129 a0002c0009t0002g0197 a0002c0009t0002g0198 a0002c0009t0002g0129 a0002c0009t0002g0197 a0002c0009t0002g0198	3	418	0.0072	0	c.231 others(6): Show c.2311+1G>T		ATP1A4	ENSG00000132681.17	transcript	ENST00000368081.9	protein_coding	15/21					chr1	TogoVar
ATP2C2_chr16_84363538_84469187	84459387	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0291 a0001c0003t0008g0291	1	432	0.0023	0	c.233 others(6): Show c.2333+1G>C		ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	23/26					chr16	TogoVar
ATP6V0D2_chr8_86093910_86159225	86151541	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	360	0.0028	0	c.891 others(5): Show c.891+1G>T		ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	7/7					chr8	TogoVar
ATP7B_chr13_51927669_52016450	51941080	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0021 a0003c0005t0012g0021	1	302	0.0033	0	c.355 others(6): Show c.3556+1G>A		ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	16/20					chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42480282	CAGATGAT others(9892): Show CAGATGATTATTATGTTAAAGCAAACTATTGGCATTTTATGAAGTTATAA AGTGTATTCAGTGTGTCCTCTTTTAGCTGTACACGTATGAAAGAAATATT CTCTCAACATTTCCAACATTTATTCATATTTTCTTGGAAGCAAATATAGG GTTGACATTCATTAACAGTTTGTAAAAGTCTTTTCAAAGCCAAACATCTG CTTGGCATCCAATGGTGTTCACAAATTTTTTTCCTTAAAGGAATGTCTGT TGAGCATTTATTAGCTTCATTTGTGCTTTATGACTACTTTTTAAGTAGAA CATATATTTAGAGAAATTCTTAAAGCTAAAGACAATCTCTAAAGATTTAA GAAGTAGATGTGCCTTTATTTAATGCACTCATGCTATGACAGCAAATATT CAGTGTCCCTTTAGACTTCTTGCAGGACCCCTTGATAGGAGTAAGGTGAA AGGTTTTGCCTGGAATGCCACTCCCAAATGACAACACTCACTGAAGTCAA GTGTTTTTTTATACACTATGAGGAAAATGGCCTAAAAGGGGGTTAAACTT TGATTAGAGATGTTGCAAGTAGGAAAAAATGCTTACTTCAATTTAACTTT TGCTTTTCAGAAGACATGAGTACATAAATTATGTAGAACGATGATTACTA GACAGTCTAAAAGCTGGAGGCTCTAAGCCAATTTTCAACCAACTGTCACA GAACATAAGTTTCAAAATATGTTTAAACTAAACTGACAACTACAGAAAAA TGTAAAATTCTTTGAAAGGCTGGGTTATGTGAACTGATGAGGACCTCAGA AACCACATGCTATTTAACACACAGTAATACTTCACTGCAACATTCCCACT CTCTTCTGGAGGGAATATTAAAAGAGGTAGAACAGATGCTTCCCCAAATT AAGCTGATCCCAGCAGTAGAAAGACTGTTCCCAGCAGAGTGGCCAACAGA AGGAAGGTCCATCCACAACCTAAAAGGGCTATGAGAGGTCCTCTGGCCCA GCAGCTTTCCAACCAGGACAAGATAACCCAGGAAGGGGGCATGTGTGTAT TTCCCACCCTGCTATGACGAAGCTGGTCCACTTTTATTTGCTTCCTATAT CTGGGTTCCCTGGAAGATAGGAATCACTGATATTCCAATCTCTTCATTTT GTAGGTCACAAAACCAAGGCCAGAGAGATTCCATCAGATACCCAAACTGC CAAATCAGTAGAGCTAGAACAAGCATTCTGTGAATCTCTAGATAAAATGC TTTTATACCAATTATACAGACTGTAGGACCAGGGGGCATAAAGCACTGGT CCCTGAGACTAAGAATTACTTATTTAGTACAGTTACTCCCTGGGATAGTG CTTGATTTCAGCTGTATCCATAAATCTCCATGAGTCTTAGAACAAGCTTT TTTCCCTACGTCTACCTCTCCAAGGAGTTTCAGTGAGTCTGTAAAACCCC TGAAGGGCTTCATGAAATTTTACATGTTTGTGTGCATGTGTACTTCTTCT GGAAGGAATGGTCTATAACTTTCATTTATTCTCCAAAAGTATCCGTGATC ACACCAAATCATGAGAATCAGTGGACTTGTGTGAGGGAGTAGAGGGGAAG AAGAACCATAAAGGAGCAGTTTATAACTGGGAAAATGAATCAGAAACTAT CTATAAATTAGATGCATTCAGGTTATGCAGGTAAATACTCACAATGTTAA AAACAGAAGCTGCACAGTATCTATGAAAGAACAGTAGTTGGCCAGGTGCG GTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGTGTGTGGACT GCCTGAACTCAGGAGTTTGAGATCAACCTGGGCAACGTGGCAAAAGCCAG GCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTACATGCCTGT AATTCCAGCTACTCGGGAGCTGAGGCACAAGAATCGCTTGAACCCAGGAG GTGGGGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCTCCACCCTGGG TGACAGAGTGAGATTCTGTCTCCAAAAACAAAAAAACAAACAAACAAACA AACAAAAAAAAAAAAGAAAAGAAAATACAGTGCTGTTAGACTGATACAAA CAGGTTTCATTCCACTTCTTGGGTTTTATATACTTAAGAAAAATATTTGA GGCACAACATTCAACCTATACTTTAGAAACCAAAACCACCAGGACTCCAG AGCCCTGAATAAATTTGGGGTGGGGGGATTAGTTCTGTCTCTGAAAATTT CCTTCAGAAAACAGTGGTGAGAGAGACATAATGTCTGCTGCCTGGGAACA ACTGTTTCTTTCAATTCAGCTGAAGACTCTGGAGGGACAACACTCATCTT TATAACTGTGTCAATGAGGCAAACACTAAAATCTGCCTCATTCTGCCCTG TATGCTGATAGTATCTGGGAAGAAAGTGGCTGATGCAATCCTGATGATGG AACTAACATGGAGACTCATTATCTGTTATAGGAAGGCTTTCCCCTCTACT TCCACTCCACCTAGGGCTAAAGAGAAGACTGCAGAGGAAGATCAGATTCT GAATTATCTGCATGTGTGTGGAATGACAAGCAGTAGATTGGAAAATAGTT TAAATTTGAGAGAAAAGCCCATAAAGCCAGTATGAACATAAACGAATTTG GGAAACAGTACCAAACTGTATTTAGAAATAATAATCAGTATTTATCTGGA GCGTCTATCTTCTAATGGAGTAAAATAGAGAATTTCCTGAGGCCGGGAGA TTGTAATCATCTGAGAAACGAGGAGTGACACTTGGGTTTAATTGGAAAGA ATGATACACAGAATGGCCCACCTATTCCTATCCAGGGATAGAAGCATTAT CATGGAAATTATATTCTGAGGTCAGTAAGCAAAATGACAAGAAGATGGTC TGTGCCAATAGTTTAAATGCCAAGAGGCACCAGGCCAAGAAGGTGCACAG ACATAAATCCGGCAGTGGCACTGATGTAATTATGGGCTTAGACCAATTCT CAAACATGCCAGAAGCTGAACCACAGTCCTTATGGGAAAAGAGAGAGTAT GAAGGTAGTTAGAAGAAAAAAGCTGAGGAAAGATATGTGACTTAAGAAAA AAAAAAAAAAAACCTTAAAACTGGAAATAAAACTCAGTGTCTGCGTAGGG ACCTCATGGTCTTGAAACATGCATAAAACAGAACCGAGGGAGGAAGGGGC CACACACATCTTTATAAGCTCAGTTTCAGAGCTGAGCCGCACGTGCACGG CAGGGTGTGATTCCCTTCTAGGGACCTGGTGCCTGGAGAAGCCCAGAGGT CCATGTGACTTGTGAGCATCCAGAACAAGGATTTCGGGAGGGAATTTCAC AAGCACAGAACATATTTTTTCTCCCTTGACTCTGCTTTCTAGTTTTTTCT CTCCCTCTGCTATTGTTTAATTTTGTGGTTCGACTTTTTGAAGAATGGTG GGAGGTACTGTGTTAAGCAATGCTTTAAGAATGAGGCTCAGCTGCAATCA CTGCAATATGAAAATTGGCCTCCCACATCTTTCCAACCAAACTGTGATTT GACTTAGAAAGAAAGATACATGAAGGAGAGCAGGTATCAAGTGTTACTCA TCTTTTATGTGTCGCACTGCGCCCAGCACACACAAAGTAGGCACATAACA GATGACTCTAGGGAACTGGCCATTTTATCTTAATACTTCTGTATTCTGTT TCATGTTGTTTCCAACTAGGAGCCAGCAATCATAACACTTGTGCTTTTGA GCAATCTTTTGTTGATCCTTATGATCCCATTAGTTAAAGTGATTAAGTGA CCAAATCTGCCACATTATTCTGATGAAAAGTGTCAAAGTTGAACATTAGT CACACTTAGTCAAGACATTTGCAAGGAATCCAGCAAAATCACTGTAAAAG TAAATTTTAAAAAGCATGAGAATACCAAAGTAAAAATGAGTCAAAATAAT TTCCAGTCTCTTTATGATTAAGCAAAGAGCCGGATGACTAATATTAAACA TCTGTACAATATATTGTCCAAGAACTTTATAGTAATATTATTTGTTAATA CATACCACAGAAAAGAAAAAGAAATTATATGACTAAAATAATTAGACTCC TGGGAAAGATAAGCAACTCTTAATTCTCTGAATATGGTATAATTTTATAG GCTAAAATGATGCTTATAAAGGATATTGAGAATAGTTTAAATTATATTTC AGAAAGTATGTCTCAACTGAAATTTAGGAAATGTCTATAAGGTATAGCTT ATAATTCATAAATAATACCATATACAAAATATTTAAGTGAATAAACCCAG ACAAAAGAGGTATAAAAAGCATAACTTTATTAGTAAATGTCTTTTTAAAG AAAACGATAAAAGCACATAGAATAGTTTTAAAGATAATACCAAAAGCACA GATACTGAGAAATCTTTCAGAATCTCTGCTAACATTTTATGTCCCAGGAA GAGAAGGCAATTTGAGAAATTGCTACCCAGGATCTAGACTGATCAACTCC TAAGATTCAATAGTGAATGACAAAGGGGAAATCCTTAGTTTTCATGGTGA TCACAAAAGAGGAGACTGGGCATATTCATCATATTCATGAACCTACTTTA GGTCTTAGGAAGACGGAGTTTAAACAATTTATACGTAAATATGGGGAAGA TTCCTTGACAAGAAACTCAGGAAGGACTGGAGCTATGTCGTTTACAAAAA TGCCTTTCTATGAATTAGGCCTTGATAACTCAAAAGAGATTTTAATTTAG GATATAGGCAATTTTATAAATTAGAGGGCAAAGGAATGTATAGTCAATAA ATACCTCTCAGAAAAATGCCCAGCTATTTGGAAAATGATTCAGTTTGCAT CTTTCATCATGCTATTCCCCCAAAATAAGTCTTAGCAGCTGGATCAAAGA TTTAAATATAGACAACAGGACCTTTAAAGAAAGGACCTAGGTGGAAATGC AGGTAGATAATGAATTTTAAACAAAGATAATGGCAAGAAACCTGTCGATT CAAATGAGGAAAAATACTTGTTAATGATTGTTAGGACTCACTTTTTAAAA CTAACAAATTCCATCCCAGTTTGTGAACCTCAAGTCTTGAGTGAACACAT TAGTAAGTAACCTAACTTTTGTAAACTCTGGATTACTTTCATTGACGTTT ATAAATCAAGAACTTAGATCAAGTCATTCTTTACTAAAATCTGACAATGA TAAGGAGAACTTACCGACAGCAAATGACAGCTTTGCATGACAAAGCTAAG TCCAGGAAATACTGTCGTACTCCAAAGGTTAAGGCATATTTGAGGGTTTT CCCATCAATTATAAGAGCAAAATCATTCTCTTTCCGGAGAGCATCACCAA GGGTAGTACAGTGACGACTGAGAGTTTCCCTTGTTCCCTGGAATATTAAA CAAGCAAAAATGCCATCAACATTTACTCCCATTTGTTCTACTAGGATGCC TTAAGGATATTTGGCAACTACATTTAGTTATTTTTAGTGCTTTTTATGTT TCAAATTGCTTTCACATACTTTCAGTCATTTGATTCTTACTAGCCCCTCA GGAGCCTGCACAATTGTTATCAGAAAAAGTTAGTTACTTGATTGAAGTCA CACATCTGTTCCTAGCAGGGTTGGGACTAGACTATAAGTCACCTGTTTCT CAGGTGATTCTGTAGTCTTTGCTCATTATTCTAACCATCATTGTTTGAAA TGCTTGTTCCCCGGTGCTGTAAAGAAATAGCACTTGAACATAAATTTAAT TTATTTAGTAAGGCCATTTTTACTTTTTGCAGAAAGGGTACACTCGCCAG CAGTTTTGCCACGAGAGTACACTGAACAAAGGAGACAGGGTCATTTATAA CCTGACGCGTTCACCCCACCGCTGTGTCCGGTTTCCATTGGCTGGAATGG GACCTCACATTCTGTATTTGTCCCGATTGGCTAGCAACTTAGAACCTTTT AAAAGAGGCAAAGGTAAAGGAGAACAAAGGAAGGCGGAAGTAACTTGTGG AATGCTGAGAAAGGTAAAAACACTTTTAAATAAGGAAGAGGAACAGGCTA TGACCTAATCTTGCTTGGACCAGTATAAGCATGTCGGGGCAAATATTTAG GCTAAATTGTGGGAGCTAGGAACATAAAGTACATTGATTTCTTTATTATG GCTAGCACAGGTCTTTGAATAAATTTTGCTTTTAAGAGAAATTACTATTT ATTCCTAATTAGACGGGGAGGAAAGTCTTTGAAGAGGAACCTCTACTTTA CTTTTTACACGACCATGCAATCACAATACGGCAAACATATTTTCAGTAAA TTCTTTTGTTAAAAATCGTGTTAATTTATGAGCTAGTCAAAGTTGCTACT CCATGAATGAAGGGAAGAAGTTGGGGAATATATGCATCACTTAACTATGT TTTGGTCAACAGACTGAATATCCCATGGTGGGCCCATAAGATTGTGAGAC CATATTTTTACTGTGCCTTTTCTGTGTTTAGATATACAAATACCACTGTG TTACAACCGCCTACAGTATTCAGTACAATAACAGGCTATAAGGGCTTGTA GCCTAGGAGCAATAGGCTATCTTGTGTAGCCTGAGTCTGGAATAGGCTAT GCCATCTAGGTTTGTGCAAGTACCCTCTATGATGTTCATACAATGACAAA ATTGCCTAATGTCATGTTTCTCAGAATGTATCATTTCATTAAGCAAACTG TAATTTAAATAATTTACAGGCATTCTTTCAAAAATCCTCAATGCTATTGA ATTTAACTCCTAGTAACTAAGAGGAGGAAATGCACAATCTGTAAACTCTT GCCTCTTTTATGAACTGGCTTTTGTAATTTTAATCATGATTTCATGATGT TGTATTTAGTTGGGGATGGTGACCTGTGACTTGGTAATCTTGATGGATCA AATAAAAGAACGCCTTCTATCAATGAAGAGTTCACTTTCAGGGACAATAA AAGCCTTTAGTGTCAAGACAGCTTTGTTCACCTCAACTATTTGTCTCCCT TTGTCAAGAACTGCTTTCCCAGCTCTTCAAAGGGATAAAGTTTCAATACA TTTAGTTTTTCTCCCCACATCCTATAGATTCTTCCTATAACCTAATGGAG CCAATTTCCTATTTCACAAGAGCCCTACCGTGGTGAAGAAACACAACACT GGCCTGGCACAAGGAAATATAATGAGTAATTCCCCTCCTATCAGATTTCT GTTCTGAGTGCTAAGCCTACAGTTATTTATAAAATAAATACAAATATACA TATTTATATAATAAAATATACCTACAATAAAAATACAGTACACTTATATA ACAATTTTTATTATGTTCATGGGATTTACAATTATTGTTCCAATTTAAGC ATGTCGTTTTATATATATATGGTCATTTTGTAGTTATTTCACAGAGAAGC AAAGGCATAGGTAATTAAAATTTTATGTTGGGGATTTTTGAAAGTGTTTT TACATTTGTATGCAAATGCGGTTCACACTATGTTCTGGAATATCAGAATC CTTTTACCAAAATAATAGAACCAAGTTGTACTATAAAGAAAGACTGCCCA ACTTTCCTAATGCTGAAGCTTCACTTAACAGTTGCCCTGTTCCCCATTAC ACACAGTGACACAAAGGACCACCATATAGCAGCATTCTTTGCAAAATTTT CTGTTCACACTTTACATCAGGGATGGGGGGAGAGTAGCTGTTTTAATTTA CAAGCCTCACCCTCCTGTTTCCTGCTGGAAATTTTTGGCCCAAGAGGACT TAAAGAAGTGAAAAATGTTGGTAATAAATTCCACAAGCAAAATTTACTAA TGACAATCTATAATAGATATCCCCTGGATTATCTTAACAGCAAATTCATA TAGATTAAATGAACAAATAAGTCAATGAACTGATACAAAATATTTAGCAC ATACTACACACTAAGCACAGTTCTGAGATGCAACACAGAGATGCAGCATT TAAGTTAACACTTGCTACCATCCTGAGCAGGAGGCACTACTGTTATCTCC ATTCTGCAGATGAGAGTGTTTCAGTTCCTTGCTTAAAAATATGTGGCTAT TAAGTAGTGACATCAAAGTGAGAATGAAATTTCTGCGGTAGCCTGTCTTT TTCTATGCAATCCAGCAAAAAAAAAAACAACAAACCAAACTTCAGACAGT ACCAGGCGCAGCAAGTTAGAAATGGAATGCCCACACCAGTCCCTCTGTTG CTTCCCTTGAGCCCTCATCATCTGTCTCTCATCTTGTCTTTACCACCAAC AGAGACATCTCTTTATAAAACAAATTTAAAACACAAATCTTGTCTCTTCT TGCTTTAAAAATTTTCTAGGGCTTTCTACAGCTGACACAATAAAGTCTAA ACTCCTTAAAATGGCATGTAAGGCTTCCTACATTCTGAGCCTAACTTTCC TTCCCAGTGCCCTTCACAATCTTGGTTTCTTTTGTTTCCCTCTTCCTGGA ATGTCCTCCTCTCCAGAGGATCATCTGCTGCCTTCAAAAACCAAGCTTAC CCTGTAAGCCCTCCCAGGTTCAGTCCACGCTACCAAGTGTAACTCATTCT ACTGCAGCAAAACCCTGAGTTTCTTGACAGGAAAGACCGCGTTAAACCTG TTTCCCAGCAACAAAGGCAGTGTCTGCAATTACAGATGCTCATGAAATAC ATATTTATTGAATGAGAGCATTGATAAATTCTGATTTCATCCCGTTGGCA ATGCTCCATTTCCCCCTTTATTATCACTTCTGATTAGAGAAAGAGAGAGA GTAAGAGAGAGACACACACAGAGAGAGGTCTTCTCTTTGCTCCCTAATTT TCCAGGGAACAAATAATCCATTACTTTAACAGACTTTCAAACAAAGGCAT TGCTCACTAAAAAGCCTCTGTATTTTCTTTTAAGCTATTGCCCAAGTGAT TTCTGAGCTGAAAACCTGAAATGAAACCTGAGACGGACCTCAGGAGGACT TCGAATTTCTTGAAAGCTCAGCTGCAAAACAAGACCGAAAGTCAAGTAAA CCCCAGAACTGTGAAACGCCCTCATGAACCAACATAGGGTATGCAGTCCT GTGGTCCCCGCTCTCCCTCCTTTATAAGGCATTCTCTAACACCTTAAAAT TTATTGAAAATTCTCTAAATTCGTGACATCAGTATCCCTAGGTTTTGTTG GTGACTATCACAGATCTCTGGCAAATCAGAAGGTGTCAAGAGATGTGATA GAAATAACATTTCAGAAGGTGAGTCAAAAACTTCTCACAGTGAATTCACT CGTCAGCCCACCTAGGGTGCAAGGTAACAACAACAAAAAAAGCTGCAAAC ATTTTCTCATTTTAGTTTATAGTTTTCTTTTGTAAGCTCTGTTGTTAGCT GTGTGCTGCCAGTTACAAGTTATATTTTATCCTTATTTACTGCCGGGAGT ATTTTCAAATTCTTTTATTTATGAAACTTTATTGCTTCTCCCCTAAGTCC AGGAGCCATACTTTATGGCTGCATTGCATTGAAGCTTATCTCCTGTAGCT AAGGATAAATTTATTACTATATTAGCTGTTGTTTTGTTTTTTTGGCTACT GAAGGGGGAAATTTTTAAATATTGAAACTTAGTGACTTGTAAAAGTGAAA ATATAGCAATGAGAAGCTAAATCAGAAAAAGGATCAAAGACCACAGGCTC AATGAAATAAAAGATCTCTATTTCCTTGTTCTGCATATTTTCACTCGTGG GCTGAAAGTCCAGGAGCATCAGAGACATTGCAAGGTAAAGGCAATCTGGG GAGATGGACAGGTAAGAGGAAAGGCTGGGGTTCAAACACTCAGCCAGGCA AGGGAGGGAGCCACAGTGGAAAGTGAGATTCTCGTGCCCCTTCCCTGACC TGCAGCCTGTGTGGTCATTCTGGACAACCATTCTGCTCTGCTCTTCCCAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01978.hp1 HG01978.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0014 a0005c0010t0014	a0005c0010t0014g0277 a0005c0010t0014g0277	1	310	0.0032	-9899	c.215 others(19): Show c.2152-4513_2324+5213del		ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/37					chr4	TogoVar
AWAT2_chrX_70035542_70054938	70042185	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19059.hp2 NA19059.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0024 a0003c0003t0006g0024	1	338	0.0030	1	c.847 others(6): Show c.847+1dupG		AWAT2	ENSG00000147160.9	transcript	ENST00000276101.7	protein_coding	6/7					chrX	TogoVar
AZU1_chr19_822837_837018	830938	CAATGTGA others(12): Show CAATGTGAGTGCTCCCTGTG	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01192.hp2 HG01192.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0075 a0007c0014t0001g0075	1	391	0.0026	-19	c.592 others(29): Show c.592_594+16delAATGTGAGTGCTCCCTGTG	p.Asn others(6): Show p.Asn198del	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	4/5	602/907	592/756	198/251		chr19	TogoVar
BABAM1_chr19_17262443_17284337	17267528	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	424	0.0024	0	c.-14 others(5): Show c.-14+1G>T		BABAM1	ENSG00000105393.16	transcript	ENST00000598188.6	protein_coding	1/8					chr19	TogoVar
BBS4_chr15_72681207_72743473	72735139	GAAAATGC others(133): Show GAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTATGC ACTTTGTTGAGAATGGTACTGGCGGGGGTTGGACTCTCCAAAGCCATGAG GTGGTGCCATACATAGCATTGGTGCTGCCTGTGTCAGCCCA	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG00558.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0032 a0008c0012t0001g0032	1	398	0.0025	-140	c.106 others(12): Show c.1064_1106+97del	p.Glu others(5): Show p.Glu355fs	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	13/16	1085/2467	1064/1560	355/519		chr15	TogoVar
BCAP31_chrX_153695492_153729387	153720868	TCACCGAT others(1): Show TCACCGATG	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	267	0.0038	-8	c.189 others(17): Show c.189_193+3delCATCGGTG	p.Ile others(4): Show p.Ile64fs	BCAP31	ENSG00000185825.17	transcript	ENST00000345046.12	protein_coding	3/8		189/741	63/246		chrX	TogoVar
BCL7A_chr12_122016884_122067044	122022185	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0035 a0003c0008t0035	a0003c0008t0035g0002 a0003c0008t0035g0002	1	362	0.0028	0	c.92+ others(4): Show c.92+2T>G		BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	1/5					chr12	TogoVar
BCLAF3_chrX_19907860_19996061	19990906	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01099.hp1 HG02293.hp1 HG01099.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0102 a0001c0001t0023g0093 a0001c0001t0001g0102 a0001c0001t0023g0093	2	207	0.0097	1	c.-35 others(6): Show c.-35+1dupG		BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding	1/11					chrX	TogoVar
BHMT2_chr5_79064767_79095069	79082957	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01167.hp1 HG02717.hp1 HG03139.hp1 HG01167.hp1 HG02717.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0074 a0001c0001t0001g0030 a0001c0001t0001g0074	3	390	0.0077	0	c.598 others(5): Show c.598+1G>A		BHMT2	ENSG00000132840.10	transcript	ENST00000255192.8	protein_coding	5/7					chr5	TogoVar

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Search Results (Total: 1035 hits)