Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

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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
BANP_chr16_87946434_88082316	88000024	CCATGCAC others(1257): Show CCATGCACGCATGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCT CCATGCCCGCACGTGCGCGGCTGTACTTACCAGGCCTTCCAGACACGTCT CCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCT CCATGCACGCACTTGCACGGCTGTACTTACCAGGCCTTCCAGACACGTCT CCATGCACGCACGTGCGCGGCTGTACTCACCTGTCCTTCCAGACACGTCT CCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAG ACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAG ACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGT CCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTAC TTACCTGTCCTTCCAGACGCGTCTCCATACACGCACGTGCGCGGCTGTAC TTACCTGTCCTTCCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGTAC TTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGC GGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATGCCCGCACGTGCGC GGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCGC GGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCAC GGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGC ACATGCGCGGCTGGACTTACCTGTCCTTCCAGACGTGTCTCCATGCACGC ACGTGCGCGGCTGTACTTGCCTGTCCTTCCAGACACCCAGACACGTCTCC ATGCACGCATGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCC ATGCCCGCACGTGCGCGGCTGTACTTACCAGGCCTTCCAGACACGTCTCC ATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCC ATGCACGCACTTGCACGGCTGTACTTACCAGGCCTTCCAGACACGTCTCC ATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACATCTCC ATGCACGCACGTGTGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGAC ACGTCTCCATGCACGCACGTGCGCGGCTGGACTTACCTGTCCTTCCAGAC ACCCAGACACGTCAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0173 a0002c0029t0001g0173	1	352	0.0028	-1264	c.363 others(17): Show c.363-4260_363-2997del		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL2_chr10_35003551_35095341	35042122	TCATTACC others(1257): Show TCATTACCCCATCAGAAACTTTATAACCATTAAGTAACAACTCCTCACAT CCTCCTCCCCTGATAACCTCTAATCTATCTTCTGTCCTTTTGAATTTGTC TGTTCTAGATATTTCCTATAAATTGAACCACAGAATATTTGCCCTTTTGT GTCTGTCTTTTTCCACTTAGCATAACATTTTCATGGTTCATCCATGTTGT ATCATGTATAACTTCAATTCTTTTTAAAGACTGTGTGGTGTTGTGATATG TAAGTACATTGGTTTTCATCTGTGGTTCCTGGTTCATAACTCCCTTAGCC CTAGTTACAGTCTTTAGTTATAATGTTGAGTGTGTTAGGTCTCAGGAAAC AGAATTTCTCTCCTACTCTCCTTTCACCTGCCTCAAGGCAGGACTCTAAT CTTGCCCTACCTTTCTGACTGTGGGTCATAAGACCCTCCCCAGAGAAAGC CCCACCCTGTACGCTGGGGGAAAGACTACTGACATCATGAAGCTTCCACA AAAATCCAAGAAGACTGGGTTCCACAGGGATAGAAGCTCCTGCACTCATG GTGATTTCAGACCTTCCCTTATGTGTCTCCTCAAGTGGTTGTTTATTTGT ATCCTCTAAAATATCCTTCTTAATGAACTAGTAAACATTAAGTGAGTGTT TCCCTAAGTTCTGTGAGCTGCTCTAGCAAATTAATGGAACCCAAACAGTG TACTGTAGGACTTCAACTTGAAAGCCAGTCGGTCAGTAGTCCGGAGGCCC AGACTTGTGACTGGTGTCTGGGGGTGTGCAGGGCAGTCTTGGAGACTCAG TCCCCAAACTGTGGGATTAGCCACTATCTCAAGTAGATGGTGTTAGAGTT GAACTGGAGGACACCTAGCTGGTGTCTGCTGCTTGGTGTGTGGGAGAAGA GAGCCACACCTTTGTTTACAGAAGCCTTCTGTGCTGATGATTGTTGCTGT GGTGTGAGAGTAGAGGAAAAACATGGTTTGAGAGAGTTTTTCACTACACA CGATGAATAATATTCCAATGCACATATGTATCACATTTTGCTTATTCTTT CAACTTCTAACAGACATCTGGGCTACTGCCACCACTTGCCAGTGGCATAT TTTTGACAGCCAGACAGAGCAAAGTGCATGTATCACAGATAATCTGTGTG TGATTCTTGGGGCTGGATCTAGAGGCTTCAACAAAAGTCTAAGGTGCAAT AAGGGCTAAGAGCTTAGAACCACTGATCTAGTGTAACCTGAACTTAATTG ATGGGGGAAAAGTTC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02572.hp1 HG01071.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0289 a0001c0004t0006g0290 a0001c0004t0006g0289 a0001c0004t0006g0290	2	300	0.0067	-1264	c.714 others(17): Show c.714+1180_714+2443del		CUL2	ENSG00000108094.17	transcript	ENST00000374749.8	protein_coding	8/20						chr10	TogoVar
DDX51_chr12_132131594_132149319	132134770	ACGGTGCC others(1257): Show ACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGC TCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCC CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACG GTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCT CCTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGC CCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACG GTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTG CCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0012 a0008c0010t0012	a0008c0010t0012g0015 a0008c0010t0012g0015	1	334	0.0030	-1264	c.32 others(11): Show c.3238_*4501del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1823		chr12	TogoVar
PLA2G5_chr1_20065194_20096911	20080588	AACCAAAA others(1257): Show AACCAAAATAAACAACTGCTTCTGAATACACAATGGAAAAAAATCCCCAG GGGTTGTGCCAGGGTGAGGGGAAGTAGGGCTTCCTGTGTGACTTACCAGG AATCTTGGAGCTGGCCCATGCAGGGGTGTGGGAGGTGACAGAGAGGTCTT TAAAACCAGGTGGGCCCAGCCCCGGCCTCTTCTGTGGGCCTGAGGACGGA GAAAAGGTCTCACTGGTGAGGAATCTCATCTTTGGGGCTGCTTTGCCTGA GGGAGGTGCAGAGAGCAGGGCCGAGAGAGGGGCTATGAGAGGAGACACCT GGCCCCCTTGGTCAGGGGAGCAGGGCCCGAAGAGGAGTGAACCCCCATCA CCTCTCTCACAGACAGCAGGAGGGCTCAGCAGTGCCTTCCGTGCAATGAG GCTCCGCACTGTGCGTTCTTTCCAGCCAGGAGACCTGAACTGGGAGGTCT TGGAGCTGCTGCATGTGGACTTGGGGGACCCGTCCCTTGGCAACCTGGCC ACGTCCTGGCCTCCACATCTTCCTATGGGCTGTCCGTCTCTATTCTCTCC CCTCTCATTACTGCAACCGCTGCCCTCCTCTGAAATTCTCTCGCGGCTAT GCGCTTCCTCTCTGTGGTCGTTTGATTAAAATAGCTGAGTCCACATCCTC CTCCTGGCGCCCGCTTTGGGCTCTGCTGAGTGGATGGCTCTCCACTCTTC GGGGCAGCCACTCCATGCCTCTGCCACCTCCACCATGAAACTGCTTTTTT ACTCTTTCCAGGGTGTGGGTTTTCTCCAGGTATGGGGAGGCCAACAGATC AAGAAATGATTGCCATTGAAAAGATAGCTTGTTATTTACAGCTCCCAGAA GAAGGCGTGCTTCCACCCAGGGCCACGCAGGAAGTGCCAGGTCGGCAGGT CAGGAGGAGCCACGGGAAGCATCGCCCAGGGCCTTTGCTGTGATCTCTGG GAAAGGCTGGTGGGGCAGGGGACACAGTTTAGGACCGGTCAGTTTGAATC ATGTCAGTGGAACTCCAGGCTTCCCTAGTTGTCCAGTTTCTGGCCCTGGG GTGATTTAGGGCAGGAGAAACCTTGGCTTGGAGTGTGAGAGTGAGGGAAA GGTGGCCCGGGTGTACCAAGGCACTGGTTGTGTCAGCAGTGGGACGTATC CATACAGGCCTCAGCATCCTCAGGTCTTGCCTCCTCAGAAGAAAGAATTC TCATGGCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCCTGA GGTCAGGAGATTGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG03098.hp1 others(1): Show HG02647.hp2 HG02723.hp1 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0149 a0001c0001t0013g0042 a0001c0001t0013g0148 a0001c0001t0001g0149 a0001c0001t0013g0042 a0001c0001t0013g0148	4	430	0.0093	-1264	c.-10 others(17): Show c.-10-4228_-10-2965del		PLA2G5	ENSG00000127472.11	transcript	ENST00000375108.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA6L_chr9_4593316_4671480	4628117	GCTGAGGG others(1257): Show GCTGAGGGGGAGTGGGGATGGTTAAAGGGCACAAAAAAAAAATACAAAGA ATGAATAAGATCTAGTATTTGATAGAACAACAGGGTGACTATAGTCGATA ATAATTTAACTGTAAATTTTAAAATAACTAAAAGAATATAATTGGATTGT TTGTAACTCAAAAGATAAATGTTTTAGGTGATGGATACACCATTTACCTT GATGTGATTATTACATACTGTATGCCTATATCAAAATATCTCATGTACCC CATAAATATATACAGGTACTACGTACCCATAAAAAATTAAAATTTCTAAA TTTTTATTTTATGTTTATTATTTATTTATTTATCATTATTTTTTTCTGAG ATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGAGCCATCTTG GCTCACTGCAGCCTTGACCTCCCAGGCTCAGGCGATTTGCATGCCTCAGC CTCCCCCGTAGCTGGGACTACAGGCGCACGCCACCATGCCCAGCTACTTT TTGTATTTTTGGTAGAGGTGGGGTTTCACCATGTTGCCCAGGCTTTTCTC TAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCCAC CATGCCCAGCCTAAAATTTTTAAATTTTTAAAAAAGAAAGATGGAAACTG TTGTTCATAAGATCACAAGTAAATGTCATAGAACAACAATAACAAAAGCT AATTAGCTCACTTACATCAAATTTGTAATTTTAGCTTCTGAATCACCCTG CTTCCAGCTACATCATGCTGCCAAACGTATGTACCAAACATACTCTAATA TGACTGGCTGAGCAAACAGTTTGAATTATAGAAATACAAACCTAGTAAAA ACTTTCCAGGTTTCTACTTGTTTAGTTTCATGTAAACTTAATAAACTGAG TTTGGGCAAAAATTCTTTAAATTTGAAAAAAAAAAATCCGGTCATTTCTA TCACTAGATTTGTATTGTACTTACAAGAAATCTGTTTCTATGCAGAAACA CACATTCTCTGATGGCTGTCCTTGTAGAAAACTCTATTTTGGGAGCAATG CCCTATAAAACAGCATAAAAAAAGCAAATAAAATTACTAGAAACAGTTCT TTAGCCATCTCCTTCTAACTTGAAATCATACAAGAACCTAACTGCTCTTC TGTGTGGCATAATCCACACACATTATCTAAAATATATATGTAATAAGAAT AGCTAAACACTTATGTAATATATATTATGTATCAGAGCCAGGCCTAAGTA ATTCATATATATTAA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00597.hp2 HG00597.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0017 a0007c0011t0017	a0007c0011t0017g0354 a0007c0011t0017g0354	1	408	0.0025	-1264	c.352 others(15): Show c.352-213_429+973del		SPATA6L	ENSG00000106686.18	transcript	ENST00000682582.1	protein_coding	5/12						chr9	TogoVar
UNKL_chr16_1358205_1419704	1372833	GCACAGGG others(1256): Show GCACAGGGACTGCCGGCCTACACTGCACAGAGACCTCAGCAGCGTGGAGC ACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGT GGGGCACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCGTGGGGCACACCACACAGGGACTGCCGGCCAACACCGCAGAGACCTC AGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCTACACCGCACAGAG ACCTCAGCAGCATGGAACACACCACACAGGGACTGCCGGCCAACACCGCA CAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGC CAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTG CCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGG GACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCAC ACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCAC ACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGG GGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAG ACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCA CAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACA CCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGGACTGCCGGC CTACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTG CCGGCCAACACCGCACAGAGACCTCAGCAGCATGGAACACACCGCACAGG GACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGC ACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCAC ACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGG AGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CGTGGAGCACACCA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	322	0.0031	-1263	c.126 others(19): Show c.1265-2485_1265-1223del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1372851	TACACTGC others(1256): Show TACACTGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGC CGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGG ACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACA CAGGGACTGCCGGCCAACACCGCAGAGACCTCAGCAGCGTGGAGCACACC ACACAGGGACTGCCGGCCTACACCGCACAGAGACCTCAGCAGCATGGAAC ACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCAT GGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACC TCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAG AGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCG CACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCGGCCAA CACCGCACAGAGACCTCAGCAGCGTGGGGCACACCACACAGGGACTGCCG GCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGGAC TGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACA GGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACC GCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGC ACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGT GGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGC AGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACCGCACAGAGACC TCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCACAG AGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCAACACCG CACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAA CACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCG GCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGAC TGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACA GGGACTGCCGGCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(48): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02735.hp1 HG04115.hp1 HG04115.hp2 NA18940.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18974.hp2 NA18980.hp1 NA18999.hp1 NA19002.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0012 a0001c0013 others(4): Show a0001c0001 a0001c0012 a0001c0013 a0002c0002 a0002c0030 a0004c0011 a0004c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0039 a0001c0001t0040 a0001c0001t0060 a0001c0012t0006 a0001c0013t0019 a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 a0002c0030t0002 a0004c0011t0002 a0004c0031t0002	a0001c0001t0001g0220 a0001c0001t0002g0007 a0001c0001t0002g0022 others(47): Show a0001c0001t0001g0220 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0048 a0001c0001t0002g0106 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0003g0208 a0001c0001t0005g0070 a0001c0001t0005g0098 a0001c0001t0005g0171 a0001c0001t0005g0224 a0001c0001t0005g0228 a0001c0001t0005g0230 a0001c0001t0005g0232 a0001c0001t0005g0296 a0001c0001t0006g0001 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0223 a0001c0001t0006g0251 a0001c0001t0006g0257 a0001c0001t0009g0222 a0001c0001t0009g0231 a0001c0001t0009g0233 a0001c0001t0009g0243 a0001c0001t0009g0259 a0001c0001t0011g0258 a0001c0001t0011g0267 a0001c0001t0011g0293 a0001c0001t0020g0164 a0001c0001t0020g0165 a0001c0001t0039g0234 a0001c0001t0040g0101 a0001c0001t0060g0242 a0001c0012t0006g0093 a0001c0012t0006g0095 a0001c0013t0019g0302 a0002c0002t0002g0023 a0002c0002t0002g0099 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0009g0238 a0002c0002t0011g0025 a0002c0030t0002g0100 a0004c0011t0002g0077 a0004c0011t0002g0184 a0004c0031t0002g0312	51	322	0.1584	-1263	c.126 others(19): Show c.1265-2503_1265-1241del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14						chr16	TogoVar
UNKL_chr16_1358205_1419704	1372880	AGCACACC others(1256): Show AGCACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAG CGTGGGGCACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTC AGCAGCGTGGGGCACACCACACAGGGACTGCCGGCCAACACCGCAGAGAC CTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCTACACCGCACA GAGACCTCAGCAGCATGGAACACACCACACAGGGACTGCCGGCCAACACC GCACAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCCGGCCA ACACCGCACAGAGACCTCAGCAGCATGGAACACACCGCACAGGGACTGCC GGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGA CTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACAC AGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGGCACAC CACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGGG CACACCACACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCG TGGGGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAG CAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGAC CTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACA GAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACC GCACAGAGACCTCAGCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCA ACACCGCACAGAGACCTCAGCAGCGTGGGGCACACCGCACAGGGACTGCC GGCCTACACCGCACAGAGACCTCAGCAGCGTGGAGCACACCACACAGGGA CTGCCGGCCAACACCGCACAGAGACCTCAGCAGCATGGAACACACCGCAC AGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAGCACAC CGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCGTGGAG CACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGCG TGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAG CAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACACCGCACAGAGAC CTCAGCAGCGTGGG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0110 a0001c0001t0034g0110	1	322	0.0031	-1263	c.126 others(19): Show c.1265-2532_1265-1270del		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14						chr16	TogoVar
WWP2_chr16_69757332_69946739	69836022	CGAACTCC others(1256): Show CGAACTCCTGGGCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGACGTGAGCCACCGTGCCTGTGCATAAAACCATAGTACTACT ATTGAACCTAAAAACATTAACAATAATTTCAAACATCATCTAATATTCAG TTTGTATGCAAATTTCTCCATTTATCCCAAGAGTATTTTTTTCAAACCAA GGTTTAGTCACAATTCACGCATGGCATTTGTTGGTTTTCTTTAGATCTAG AAGAGTCTCCATCCTGCCTCCTTTTTTTTTTTTGTTTAAATGAATTTAAT GACATTAACATTTTCAGGAGTTCAGGACAGTTATTGTATGGATGTCTCAC ATTCTGGCATCTGATTGCTTCCTCATGGTATCATTTAATGTTTCTCTATC CCCCTCTTTCATGTGAAGCATGTGGCATCAGGTTGCCTTGCTTTGCTCTC AGTGACAGTAAATTAGATCACTTGGTTATCATGGTGACAGCCAGAGGTCT CAAATAGAACAGAGGAGGGTTATGTTCTCAAAAGTTTAGTTTAAAGAAAA AAGGCCCTCTCTCTCCTCATTGGCTATTTAAATTTAAATTAAATTAATTT ATTTTTTGAGACAGGGTCTCGCTCTGTCACACAGGCTGGAGTGCAGTGGC GCAATCTTGGCTCACTGCAATGTATGCCCCCAACCCAGGCTCAAGTAATC CTCCCACTTCAGCCTCCCAGGTAGTGGGGACCACAGGTGCACCCTGCCAG ACCTGGGTGATTTTTTGTATTTTTAATAGAGACAGGGTCTCACCATGTTG CCCAGGATGGTCTCGAATTCCTGAGCTCAAGCGACCCACCCATCGCAGCC CATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCC AGTCCTATTTTACTTTTTTGAGACGCAGTCTCATTTTGGTTGCTTAGGTT GGAGTGCCCTGGCATGATCTTGGCTCACTGCAGCCTCGACCTCCCGGGCT CAGGTGATTCTCCCACCTCTGCCTCCTCAGTATCTGGGACTACAGTTGCC TACTACCATATCCAGCTAATTTTTGGCATTTTTATTAGAGATGGGGTTTT ACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGCAATCCATCC TCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCTG GCTGGCTGCTTTTAATTAATTTTTTTTAGTGACAGAGTCTCACTGTGTTA CTCATGCTTGTCTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	314	0.0032	-1263	c.341 others(17): Show c.341-4093_341-2831del		WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	4/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF385D_chr3_21407218_21756210	21715016	TTAATTAT others(1256): Show TTAATTATAGTTTTCAGGTTGTATTTTAAATCTTTCCACTTGTTCGTCTT ACATATTTGCTATTTTTTTTGCAATGGATAATGTACTTCTAAAATTTATA TACATTTATGGGGTACAAGCGCAATTTTGTTACATGCATCGTGGTCAATT CAAGACTTTCAGGGTATCCATCACCTGAATAATGTACAGTGTACTCATTA AGTATTTTTTCCTCATTCCCTCTCCTCTCACCCCATTACTCGTTCAAGTT TCCATTGTCTATCATTCCACTCTCTATACCAATGGTGTTCACCTTTTTTT TAAGCACCCACGTATGGGTGAGACCATGTGATATTTGTCTTTCTGTGTCT GCCTAGTTTCACTTGAGATAATGACCTCCAGTTCCATCCAAGTTGCTGCA AAAGCCATAATTCCATTCCTTTTTAATGGCTGAATAGTATTCCATTGTAT AGGTATACCACATTTTCTAAATCTAATCATCCATTGATGGATACTTAGGG TGATTCCATATCTTTGCTATTTTGAATAGTGCTGCAAGAAACATATGAGT TCACATGCTTTTTTTAAATATATTGATTTTTTTTTCCTTTGAGTAGACAC CCAGTAGTGGGATTGCTGGATTGAATGGTAGTTCTAGTTTTAGTTCTTAA GAAATCCACATACTGTTTTCCATAGTGTTTCATCCTTATAACTCACCAAA TTTCTATCTATATGTTATCTGTACTAATTTCTTTGGCAATCTCTTCCAAT CTCATGTTTTAAATATTATCTATCTGCTAATAACTTACATTTGCATCTCT AGTCTAGACTTCTCCCCTAGACTTCGGACTCCATATATCTAATTGCCTAC TCAGCATTTACATTTGGAGATCTAATAGGTATTTTAAAAGCCTTGCATGT CCAAAACCAAACTCCAGCTATTCACCCTTCAAATCTGTTTCTCTCAAAAT CATCTTCATCTCAGGAAACGGCAGCTTCATCTATCTAGTTATTCAACTTT GAATAACTTTGAATAACCCTGAATAACCCTGAAACTTTGAATCAATCTCA ATACCCCACACCCAACCCCTCAGCAGATCCTGTCCACTCTACTTCCCAAA GTACACATTTCTTACCACCTCCAATGTCACCACTCTTATACGTGGCACCA TCAAGCCTCATCTGAAATATTTTGATAGCTTTGTAGCTAGTTTCCTTGTT TCTTCCCTTGTCCATATTCAAGCTATTCCCAACACAGCAGCCACACATAT GTCAGATCCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18961.hp1 NA18994.hp2 HG00438.hp2 NA18961.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0001t0021 a0001c0010t0006 a0001c0001t0003 a0001c0001t0021 a0001c0010t0006	a0001c0001t0003g0150 a0001c0001t0021g0147 a0001c0010t0006g0149 a0001c0001t0003g0150 a0001c0001t0021g0147 a0001c0010t0006g0149	3	256	0.0117	-1263	c.22+ others(17): Show c.22+34616_22+35878del		ZNF385D	ENSG00000151789.13	transcript	ENST00000281523.8	protein_coding	1/7						chr3	TogoVar
FAIM2_chr12_49861896_49908900	49878063	TGTATGTG others(1255): Show TGTATGTGTGTTTATGTGTGCATGTGAGTGCATGTGTGTGCATGTGTGTA TGTGGGTATGTGTGCATGTGAGTGTGCATGTGAGTGTGTGTATGAGTGTA TGTGTGTATGTGCATGTGTATATGTGTGTGCATATGTGTATGTATGTGCT TGTGTGTATATGTGCATGAGTGTATGTGTGTATATGTGAGTGTATGTGCA TGTGTGTGTCCATGTGTCTATATGTGAGTGTATGGGTGTATGTGCATGCG TGTATATGTGTATTTGTGTGCATGTGAGTGTATGTGTGTGCATGTGTGTA TATGTGGGCATGTGCATGTGTGTATATGTGTGTGTCTGTGTGCATGTGAG TGTATGTGTGTGTATATGTGCAAGTGTGTGTCTGAGTGAATGTGTATGCA TGTATGTGTGTGTGCATGTGTGTATATGTATGTGCATGTGTGTATATGTG TGCATATGACTGTGTATGTGCATGTGTATATGTGCGTGCATGTGTGAGTG TATATGTTCATGTGTATATGTACATGTGTATGTGTATGTGTGCATGTGTA TGTGTGCATATGTGTATGTATGTGCCCTTGTATATATGTGCGCTTGTATG TGCATGTGTGTATGTGTGTATATGTGAGTGTATGTGCATGTGTGCATATA TGCGTGTGTGTCTGTGTGCATGTGAGTGTATATGCATATGTGTATATATT TATTTGTGTGCATGAGTGTATGTGTGCCTGTGTGTATATGTGTGCATGTG AATGTGTGTATATGTGAGTGTATGTGTGTGCATGTGTGTATGTGTGTGTC TGTGCATGTGAGTGTGTATGCATGTGTATATGTGCATGTGTATGCGTGTG AGTGCATGTGTGTATATGTGCATGCATGTGTGTATGTTCATGTGTATATG TGCGTATGTGTATATGTATGCATATGAGTGTATCTGTGTATGTGCATGTG TGTATGTGTATGTGTGTGTCTGTGTGCATGAGTTTGTGTATGTGCATGTA TGTATATGTGCATGTGTATGTGTCTGTGTGCATGTGAGTGTATGTATGTG CATGTGTATATGTGCATATCTCTGCATGTTTGTGTATGTGCATGTGTATG TGTGTGTGCATGAGTGCATGTGTATGCATGTGTATGTATGTGTATGAGTG TGTATGTGCATGTGTGTATGTATGCATGCATGTGTGTGCATGTGTGTATG TGTGCATGTGTATATGTGTGTATGTGTGTGGGTATGTGTATGCATGTGCA TGTGTATATGTGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(149): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0055 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0002t0019 a0001c0002t0023	a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0074 others(131): Show a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0153 a0001c0001t0002g0111 a0001c0001t0002g0191 a0001c0001t0003g0289 a0001c0001t0004g0255 a0001c0001t0004g0267 a0001c0001t0004g0282 a0001c0001t0004g0286 a0001c0001t0004g0306 a0001c0001t0005g0005 a0001c0001t0005g0248 a0001c0001t0005g0256 a0001c0001t0005g0258 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0329 a0001c0001t0005g0355 a0001c0001t0005g0356 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0006g0003 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0056 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0070 a0001c0001t0006g0121 a0001c0001t0006g0130 a0001c0001t0006g0134 a0001c0001t0006g0167 a0001c0001t0006g0180 a0001c0001t0006g0194 a0001c0001t0006g0197 a0001c0001t0006g0206 a0001c0001t0006g0210 a0001c0001t0006g0212 a0001c0001t0006g0218 a0001c0001t0006g0221 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0007g0007 a0001c0001t0007g0047 a0001c0001t0007g0051 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0057 a0001c0001t0007g0060 a0001c0001t0007g0064 a0001c0001t0007g0069 a0001c0001t0007g0075 a0001c0001t0007g0078 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0007g0089 a0001c0001t0007g0207 a0001c0001t0007g0231 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0243 a0001c0001t0008g0245 a0001c0001t0008g0254 a0001c0001t0008g0261 a0001c0001t0008g0274 a0001c0001t0008g0277 a0001c0001t0008g0287 a0001c0001t0008g0291 a0001c0001t0008g0294 a0001c0001t0008g0295 a0001c0001t0008g0297 a0001c0001t0008g0305 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0323 a0001c0001t0009g0100 a0001c0001t0009g0103 a0001c0001t0009g0129 a0001c0001t0009g0144 a0001c0001t0009g0162 a0001c0001t0010g0018 a0001c0001t0010g0190 a0001c0001t0010g0208 a0001c0001t0012g0298 a0001c0001t0013g0116 a0001c0001t0013g0195 a0001c0001t0018g0011 a0001c0001t0018g0154 a0001c0001t0019g0104 a0001c0001t0019g0124 a0001c0001t0019g0150 a0001c0001t0021g0365 a0001c0001t0025g0034 a0001c0001t0025g0273 a0001c0001t0029g0127 a0001c0001t0029g0160 a0001c0001t0030g0109 a0001c0001t0030g0125 a0001c0001t0031g0084 a0001c0001t0031g0087 a0001c0001t0035g0271 a0001c0001t0035g0342 a0001c0001t0045g0211 a0001c0001t0046g0196 a0001c0001t0047g0081 a0001c0001t0050g0058 a0001c0001t0055g0061 a0001c0001t0061g0364 a0001c0001t0064g0299 a0001c0001t0065g0242 a0001c0002t0019g0143 a0001c0002t0023g0157	152	436	0.3486	-1262	c.801 others(17): Show c.801+8061_802-7411del		FAIM2	ENSG00000135472.9	transcript	ENST00000320634.8	protein_coding	11/11						chr12	TogoVar
GRHL2_chr8_101487439_101674726	101673464	TATAATGG others(1255): Show TATAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATA TATATATTTAGGATATATATATTTGCTCCAATACAGGAGCACCCAGATTC ATAAAGCAAGTCCTTAGAGACCTACAAAGAGACTTCGACTCCCACACAAC TTTGACACCCCACTGTCAACATTAGACAGATCAACAAGACAGAAAGTTAA CAAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGAGGACCTAATAG ACCTCTACAGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCA GCACCACACCACACCTATTCCAAAATTGACCACATAATTGGAAGTAAAGC ACTCTTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTGTCTCTCAG ACCACAGTGCAATCAAACTAGAACTCAGGACTAAGAAACTCATTCAAAAC CGCTTGACTACATGGAAACTGAGCAACCCGCTCCTGAATGGCTACTGGGT ACATAACGAAATGTAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGA ACAAAGACACAACATACCAGAATCTCTGGGACACATTCAAAGCAGTGTGT AGAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATC CAAAATTGACACCCTAACGTCACAATTAAAAGAATTAGAAAAGCAAGAGC AAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTGAAATCAGAACA GAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATTAATGAATC CAGGAGCTGGTCTTTTGAAAAGATCAACAATATCGATAGACCGCTAGCAA GACTAATAAAGAAGAAAAGAGAGAAGAATCAAAAAGATGTAATAAAAAAT GATAAAGGGGATGTCACCACTGATCCCACAGAAATACAAACTACCATCAG AGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAA TGGATAAATTCCTCGACACATACACCCTCCCAAGACTAAACCAGGAAGAA GTTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGAGGCAGTAAT CAATAGCTTACCAACCAAAAAAAGTCCAGGACCAGATGGATTCATAGCCG AATTCTACCAGAGGTAAAAGGAGGAGCTGGTACCATTTCTTCTGAAACTA TTCCAATCAATAGAAAAAGAGGAAATCCTCCCTAACTCATTTTATGAGGC CAGCATCATCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	306	0.0033	-1262	c.67 others(11): Show c.6762_*8023del		GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding					3739		chr8	TogoVar
OR6J1_chr14_22625929_22649352	22640220	GGGAGGGA others(1255): Show GGGAGGGAGGGAAGGAAGGATGGAAGGAAGGAAGGAAGCAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGGGGGAAGGGAGGGGAGGAGAGGGGAGGAG AGGAGAGGAGGGTAGAGGGGATGGGAGGAAAGGAGGAAGGAAGGGGGAAA AAAGAGAAGGAGGGAACAGTGTCCAAAGACAGGAGAATAAATCATGATAT GCTCACAGAGTTGAATATACAATAAAGAAATGAATAAACTTCAGCTCAAC CAACAGTGAGAATGTATTTTTTTTTTTTTTTTTTTTTTGGAGACAAAGTC TTACTCTGTCACCCAGGCTGGAGTGCAGTAGTGGTAGCATACAGCCCACT TCAGACTCAGCCTCCCTGGATCAAGTGATCCTCCCACCTCAGCCTCCCAA GAATCTGGGATCACAGGTGCATGCCACCATGCCCAGCTATTAGGTTGTTG CAAAAGTAATTGCGGTTTTGCCATTACTTTTCGTAGCTATGGGATCTCAC TATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATTCTCCTGC CTCTACTTCCCAAAGTGTTGGGATCATAGGCATGAGCCACCACACCCAGC CTCTTCTTGATATTTTCAGTATTTTTTTTTACAATGAACAAATATTCCTT TTATATAAAAGAAGTTAAGCTGGGCATGGTGGCTAACGCGTGTAATCCCA GCACTATGGAAGGCCGAGGTGGGAGGATGACTTAAGGTCAGGAGTTTGAG ACTAGCCTGGGCAACATGGTGAAACTCTGCCTCTATGAAAAATACAAAAA TTAGCCAGGCATGGTGCCATGCAGCTGTTGTCCCAGCTACTTGTGAAGCA AAGGTGGGAGAATCACCTGAGCCCAGGAGCTTCAGTGAGCCATGATCACA CAGCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCTGAAGAAAGAAA GAGAGAGAGAGAGAAAGAGAGACAGAGAGGGAGAGAAAGATAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGGAAGGAAGAAAGAGAAGAAAGAGAGACAGAGAGGAAAGAGAGAGAG AGGAAGGAAGGAAGAAAGGAGGGAGGGAGGGAAGAAAGAAAGAAAGGGGG GAGAGAAGAAAGAAAGAGAGAGAGAGAGAAAGGAAGGATGGAAGGAAGGA AGAGAAAGAAAGAAAGAATGAAAGAGAGAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG00323.hp2 HG01074.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0023 a0008c0010t0023	a0008c0010t0023g0305 a0008c0010t0023g0317 a0008c0010t0023g0305 a0008c0010t0023g0317	2	362	0.0055	-1262	c.-28 others(17): Show c.-28+2616_-28+3877del		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
SLC7A1_chr13_29504414_29600688	29558149	GGGGGAGT others(1255): Show GGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGA ATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGT GAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGT GAGGGGGGAGTGAATGTGAATGAGGGGGAGAGAATGTGAGTGAGGTGGAG AGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAG TGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGA GTGAATGTGAGTGAGGGGGAGAGAATGTGAATGAGGGGGAGAGAATGTGA GTGATGGGGAGAGAATGTGAGTGGGGGGAGTGAATGTGAGTGAGGGGGAG TGAATGTGAGTGAGGGGGGAGTGAATGTGAATGAGGGGGAGAGAATGTGA GTGAGCGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGA GTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGT GAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGA GAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAG TGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAG TGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAG TGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGAG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTG AGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGT GAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGT GAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGA GAATGTGAGTGAGGGGGAGTGAATGTGAGTGACGGGGAGTGAATGTGAGT GAGGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAG AGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAG AGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0047 a0001c0004t0047	a0001c0004t0047g0116 a0001c0004t0047g0116	1	330	0.0030	-1262	c.-11 others(19): Show c.-114-5551_-114-4290del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
CCDC77_chr12_396644_447642	420094	CTGTGTGT others(1254): Show CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCT CCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAATACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCT CCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCC ATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACA CACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTA CAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATA GCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTACAG TGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAG CAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCATTACAG TGCACTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0325 a0001c0001t0004g0325	1	432	0.0023	-1261	c.413 others(17): Show c.413+1467_413+2727del		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
PI4K2A_chr10_97635671_97681434	97659156	ACCCGAGT others(1254): Show ACCCGAGTAGCTGGGACTACAGGTGTGAGGACCACGCCTGGCTAGTTTTT AAATTCTTTGTAGAGATGAGGTCTCACTGCGTTGCCCAGACTGGTCTCGA ATTCCTGGGCTCAAGCAGTCCTCCTACCTCAGCCTCTCAAAGTGCTGGGA TTACAGGTGTGAACAACTGCGCCTGGCTTGCAACTGATTTTTTTGTGGAT TGACTTTGTATGCTGCTACTTTCCTGAATTATTAGTTCTAGTAGTTATTT TTTTGTGTGGAAATTTTAGGGTTATGCACCTACACAATCATATCTATGAA CAGACATAATTTTCCCTCTTTTTTTTTTTCCAATTTGGGTGCTTTTTATT TCTTTTTTCTTGCTTCAGTGCTCTAAGACTTCCAGTACTATGTTGAATAG AAGTAAAAGCAGGCATCTTTTCACTGTTCTTGATTTTAGAGGAAAACCTT GCAATCTTTCACCATTATGATGTTAGGGTCCTTTTTGCCCACCTTGGCAC CCTCAAGCTATTTGCAAGCTGCTCCTGGAACTTGTGCACATCTGGCTGCC ATGTGGCTGAAGGGTGGGGGATGGGTAGCTGCTTGTGGGGCTAAGAGCCA AAATTGAATGAAATTAACCACAATTTACTGTCCAGGCTTTCCCCTGCAAG TTGCAGGCCCTCCATAGACTCCAGAGCTCCAAAATAATTACATCAGACAG ATTTTTGCCACTACAATTGTTGTCCACGTGGGGAGACAGATTTCTGTTGT TTCCTACTCCACCATCTTCCCAGAATCCTCTCTCTTAGAGTATTGATTTT TACCTTTTCTCCTTTCCCTTCCTTTTCTTTTCTTTTTCTTTCTTTTCTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCTAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTTGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTT TTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGATTGCAGTGG CATGATCTTGGCTCACTGCAACCTCCACTTCCCAGGTTCAAGTGATTCTC CTGCCTCAGCCT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	350	0.0029	-1261	c.922 others(17): Show c.922+2207_923-2466del		PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPT1_chr1_40067712_40102252	40086707	ACATTTGG others(1254): Show ACATTTGGAAGCCGTGCGAGGCCACCTTCCATCATGTGGGTGGCAGGGGA AGCTGGTCTGCATGGAGAGAAAGAAGCAGCGACACAGAGAGAGAAGCAAC AATGGCACTGGAGAGAGAATACCCTGGCTCCTCATGGCTCCCAATTCTTG ATTCTAGGCCCTATGAGGCTTTAGGCACCAACAGAGTATTACTTTCTTTT AAAATTTACTTTGGCTTGATATGGGTTTCTTCTTGCAACCAGAATTAATC CTCCCTAATACCAGGGGCAACCTGGGACAGTATCACAAAGACAAAATGAT TTCTCTTTATTACTTTAAGCCTTCACCATCTGCTCTGCTAAAACAGTTCT CACACTCATTCATCTGCTTGCTTGCTTTCAAAAACATGTTGCCATTTTTT ATGATCTCTTACCTCCTCTCTCCCTGTTCTCTCTGCCCTTGTGGGTTTAT CACTTTTTATTCTTCTGCTACCACTTAATTAAAGTTTAAGGAGGAAGTGA AGATAAACACATCAATCTATAGCTTTTAATCAGTATTTTTTATTTTTATT TTTTGAGACAGAGTCTCACTCTGTCATCTAGGTTGGGGTGCAGTGGTGCG ATCTCAGCTCACTGCAACCTCCGCCTTCTGGGTGCAAGCAATTCTCTAGC CTCAGCCTCCGGAGTGGCTGAGACTACAGGTGTGCACCACCACGCCTGCC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCT GGTCTTGAACTCCAGGCCTCAAGTGATCTGCCTACCAAGGCCTCCCAAAG TGCTGGGATAACAGGCATGAGCCACTGCGCCCCGCCTTAATCAGTATTTA GGTGTCACTTGTCACCCCCCGACGGACTGCTCACTTAGCATCACTAACAG AATTCTGATCGCCAAGGGTTGTTTTGGTTCACACAAAGAAAGAAAAGTAT AGGCGTTTTGGAGGCAACTGGGCAAGAGTGAGAATAAAGAGTAAAGGAAG AAGAATGAAGTTTAAATACCATGCAAATCCATGAGAACAGAGAATATGTA GAATATAAATAATTAAGTTGTAATTAGCCACAGCCAATCAAACCAGGCAA AGGGGAAAGCTTGGTGTAGCCTGAGGGTAAAAAAAAGGAGCTAGAGGTAC AGAGTATCTTAGTTTTCTATAATAACCATCAGGTGGTACTGCTGACCCAA AACAGCTTTGTGGCTATTTGTGTAGCCAACGAGTGGGAAAAGAAAAGACA GCTATTAGCTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG02027.hp1 others(9): Show HG00423.hp2 HG01496.hp1 HG02027.hp1 HG02056.hp1 HG04199.hp2 NA18944.hp1 NA18949.hp2 NA18975.hp1 NA19002.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0126 a0001c0001t0005g0042 a0001c0001t0005g0043 others(6): Show a0001c0001t0002g0126 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129	12	396	0.0303	-1261	c.536 others(17): Show c.536+1442_536+2702del		PPT1	ENSG00000131238.18	transcript	ENST00000642050.2	protein_coding	5/8						chr1	TogoVar
ASMTL_chrX_1398139_1457909	1408271	CCTCCAGC others(1253): Show CCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAAC ACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATG ACAACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTG AACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATA CTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTG CAGTGAACTATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCC AAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAA GGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTA CTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAG GTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGC TGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCC AGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCA AATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTG AGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCC AGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATC GCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGC CCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAAC ACTGCACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATG ACAACACTGCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02683.hp2 NA18961.hp1 HG00408.hp2 HG02683.hp2 NA18961.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0004c0010 a0002c0003 a0004c0006 a0004c0010	a0002c0003t0001 a0004c0006t0001 a0004c0010t0001 a0002c0003t0001 a0004c0006t0001 a0004c0010t0001	a0002c0003t0001g0013 a0004c0006t0001g0102 a0004c0010t0001g0123 a0002c0003t0001g0013 a0004c0006t0001g0102 a0004c0010t0001g0123	3	185	0.0162	-1260	c.164 others(19): Show c.1645+3201_1645+4460del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408439	GCAGGAGG others(1253): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCA ACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAAC TATGATGGCAACACTGCACTCCAGCCAAATGCTGCTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTC AAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGG TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGG AGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAAT GCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCACTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0108 a0003c0002t0001g0108	1	185	0.0054	-1260	c.164 others(19): Show c.1645+3033_1645+4292del		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
MELTF_chr3_196996740_197034817	197032498	GCTCTTGC others(1253): Show GCTCTTGCTGACTGGTTGGGGTGTCAGCACCTGCAGTCGTGTGATGTCAG AAGATTTTACACTCTTGCTGACTGGTTGTGGTGTGAGCACCTGCAGTAGT GTGATGTCAGAGGATGTTACCCTCTTGCTGACTTGTTGGGGTGTGAGCAC CTGAAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCTGATGGGTTGGG GTGTGAGCACCTGCAGTCGTGTGATGTCAGAAGATTTTACACTCTTGCTG ACTGGTTGGGGTGTCAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTAC ACTCTTGCTGACTGGTTGGGACATGAGCACCTGCAGTAGTGTGATGTCAG AGGATGTTACACTCTTGCTGATGGGTTGGGTGTGAGCACCTGAAGTAGTG TGATGTCAGAAGATTTTACACTCTTGCTGACTGGTTGGGGTGTGAGCACC TGCAGTAGTGTGATGTCAGAGGATGTTACCTCTCTTGCTGACTGGTTGGG GTGTGAGCACCTGCAGTCGTGTGATGTCAGAAGATTTTACACTCTTGCTG ACTGGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTAC ACTCTTGCTGACTGGTTACTGTGTGAGCACCTGCTGTAGTGTGATGTCAG AGGATGTTACACTCTTGCTGACGGGTTGGGGTGTCAGCATCTGCAGTAGT GTGATGTCAGAGGATGTTACCCTCTTGCTGACTTGTTGGGGTGTGAGCAC CTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCTGATGGGTTGGG GTGTGAGCATCTGCAGTAGTGTGATGTCACAGGATGTTACGCTCTTGCTG ACTGGTTGGGACGTTAGCACCTGCAGTAGTGTGATGTCACAGGATGTTAC ACTCTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAG AGGATGTTACACTCTTGCTGACTGGTTTGGGTGTGAGCACCTGCAGTAGT GTGATGTCAGAGGATGTTACACTCTTGCTGACGGGTTGGCGTGTGAGCAC CTGCAGTAGTGTGATGTCAGAGGATGTTACTCTCTTGCTGACTGGTTTGG GTGTGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTTGCCA ACTGGTTGGGGTGTGAGCATCTGCAGTAGTGTGATGTCAGAGGATGTTAC ACTCTTGCCAACTGGTTGGGGTGTGAGCATCTGCAGTAGTGTGATGTCAG AGGATGTTACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	420	0.0024	-1260	c.-40 others(11): Show c.-4056_-2797del		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					2682		chr3	TogoVar
MUC4_chr3_195741771_195816929	195775575	CCATACCT others(1253): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTC CACACCGATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAT CCATACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTC CACGGTCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACATCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAT CCATACCTTCCACGGCCATAACTTCCACACCCATACCTTCCACACCCTTA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACAGCCATACCTTCCACACCCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAG TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACAC CCATACCTTCCGCATCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCGCACCCATACCTTCCACACCCATACCTTCCGCACCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATA CCTTCCACAGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0034 a0035 a0034 a0035	a0034c0152 a0035c0151 a0034c0152 a0035c0151	a0034c0152t0014 a0035c0151t0007 a0034c0152t0014 a0035c0151t0007	a0034c0152t0014g0185 a0035c0151t0007g0186 a0034c0152t0014g0185 a0035c0151t0007g0186	2	249	0.0080	-1260	c.129 others(21): Show c.12943+1468_12944-1271del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
PCDH11X_chrX_91774375_92628230	92112536	TTCACTTT others(1253): Show TTCACTTTTTAGATAGAGATTTATTATAATGTTTTCTTATGACAATTTGA TATCATTGTGTTGTTTACTTATATTCATTTTAAAATTATTCACTTATCTT TTATTCCACCATGATAATCCATTTATAGATTTAATTCATCATGAGGCTCC TAGTAATGAGTTTATGATTAAGAAAATTTTGCTATTAGTTTGTTCAGCCA TTTTTCAATTTTTTTTTAAATCATGGCACCTGAGTCCTAATTATAATTAA TTGCTAAAGTTGATCATTTGAAGCTTCTTTGAAGAATTACTCAAGTTGTT TCAGTGTAAATTAACTCTAAAAAAGGCAGTGATTTATATTTTCTATTTTG GGTGCAAGAGATTAACGCCAGTGCTAGATTATATTTAAAACACTTAGTTT ATTGATTAACTTCCCTGAAGAACATATGACCTTATTTTTGCTTAAAACTA TTTGCAGATCCAAAATATTTGAGGAAGGTCAGTGAGTGTATAGGGGTTAG ATTCAGGGGAAGGAACAGTACTTCTACTTTAACCATAATACCTACCTTTT TATCTATTTTTTTTTTTTTGCCTCAAAAAGTGACATTTATTCAAAGAAAA AAAATGACAAGATGTCTATCCCTTGGCTCCCTTCCTTCCCCTCTCCTGCT GCTCCTCAGCCCCCCGAGATTGAGCCCTGGCTGGGGCTGGGTGGCAGGAC AGCCCCTCAGATGAGGTCAGCAACATTGGGGGCATTTCCTCAATGGAGGT GTTGTAGAAGGTCTCAATGTCTCGAAGAGTCCTCTTGTCTTCTTCTGTCA CCATGTTAATAGCCACATCTTTACGGCCAAACTGTCCACCTCGACTGATT CTGTGGATATAGTTTTCCCTGTTGGTGGGAAGGTCATAGTTGATGACTAA AGAAACCTGCTGCACATCAATGCCTCTGGCCAGCAGGTCAGTGGTAATCA AAACTCTGCTAGAGCCAGAACGAAACTCCCTCGTGATCACGTCTCGCTCC TTTTGGTCCATATCTCCATGCATGGCGGAGACAGTGAAATCTCGAGCATG CATCTTCTCGGTGAGCCAGTCCACCTTCCTCCGGGTATTGATGAAGATGA CTGCCTGGGTGATGGTCAGGGTTTCATACAAGTCACATAGTGTGTCCAGC TTCCACTCCTCTCGTTCCACGTTGATGTAGAATTGGCGGATACCCTCCAG GGTCAACTCTTCCTTCTTGACAAGAATCCGAATGGGGTCCCTCATGAACT TCTTGATCACC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 HG03041.hp1 others(2): Show HG02258.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0012 a0001c0001t0025 others(1): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0025 a0001c0002t0021	a0001c0001t0006g0022 a0001c0001t0006g0053 a0001c0001t0012g0052 others(2): Show a0001c0001t0006g0022 a0001c0001t0006g0053 a0001c0001t0012g0052 a0001c0001t0025g0059 a0001c0002t0021g0006	5	154	0.0325	-1260	c.303 others(21): Show c.3034-88835_3034-87576del		PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
AP3B2_chr15_82654281_82714875	82656106	CCTGGGCC others(1252): Show CCTGGGCCCCACCTGAATCCCACAGCCCTGGGCTAGTTCCCTGGTTGTCC CATCAAAACTATTCATGACTGGCCAGCCATGGTGGTTCATGCCTATAATC CTAGCACTTGGGAGGCCGAGGCAGGTGTTTTGCCTGAGCTCAGGAGTTTC AGACAAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAA AAATTAGGCTGAGTGCAGTGTCTCACGCCTATAATCCCAGCACTTTGGGA GGCCAAGGCAGGCAGATCACGAGTCAGGAGTTCGAGACCAGCCTGACCAA CATGGCGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCAAACGTGG TGGCACACGCCTGTAATCCCTAATCCCAGCTACTCAGGAGGCTGAGGCAC GAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCGGAGATTGTG CCACCGCACTCCAACCTGGGCAACAGAGCAAGACTCTGTCTCCCAAAAAA AAAGAAAAAAAAAAAAAGGCTGTTCATGGGAAGCATTTTCCCTGCCAACT GAGATCCAGACACTCTGTGACCAGGCCCCTAATAACCTGGGGACAAAGTG TCACCACAGTGGCAAAGACTTGGGCCAGTGATAAAATACAGAATACGATA TGGGTTGGGGAAAATGCCCCCGGGGGATGTGGGGGCCCCCAGCCCCTGCA GGTCTGACCTGCTTCCACCTGTGTGTGCTGGGCAGGCCCCCATCTTATCC CTGCACACTCGCTCAGGTATGCTCATGTGGTAGGGTTGTGGGAGGTATGG CCTTGGAAGAGATGGGCTGGGCTGGAACGAGAGCTGGGGCAACCACTCCC CCTTCCTCTGTGACTGAGATTCTCTCACTCCAGACCGTTCACTCAGCACA GAACAGGCCCCATGCTCCTCCTGGGTGGGAAATTGCTGCCCCACCAATCT CCCAGCCCAGCCTTCACCAGCAGCACACCACTCCCCGCTGGGCTCCTTCT GCAGTCATACTCTCCCCTGCCCACACCTTGCTCTCCTGCTTCCTGCCTCT CTCTTTGGTCAAACACCAGAACCATTTCCTTATGAAGAGTTGCTACTGCT AATGCCAAAGCCTGGGACACATTCCAGAGACACCAACACAGAGCCGTGAA GGTTCCAACTCTCTGGACTCTCAGGGTTGGAAATCCCAGTGCCCTTTCCA AGAGGTTCTGGGAACCTGGACTGTACTTGAGGAATGTTGTGGGACTTGCC TTTTGCACTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	368	0.0027	-1259	c.21 others(11): Show c.2195_*3453del		AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding					3174		chr15	TogoVar
ATP2C2_chr16_84363538_84469187	84467928	CACAATTT others(1252): Show CACAATTTCTTTATCCACTCACTCATGGAGTGACAGAAACTCCTGTACAA TTTTTGGAAGTCTATATGAATCTAAAATTATTTCAAAGTGTGTAAGAAGA TAAGATATACTCATAGGGCAAAAATACACCAGGTAAAGACAAACAACACA CAAGACCAAGGTGACACAGTCTAATCAGACAAGATTAAAAGAAAGGCCAA AAGCATTAAAGGAGACCAAGAAGGAAATTTAACAAGATATAATCACCACT GAAAAATCCATAGGCCAGACTATGTACCAACACAACATTCAAATTTAAAG AGGAAACAGTATGGGAAATTCAGGCAAAGGATACAGAAAATTCATTATAT TAACTTACCACATGAAAGGACACAAAACCTCAGTGATTCCAAAGAGTAGA TCTAATATAGATGACTTCTTGGTCGGGCATGGTGGCTCAGACCTGTAATC CCAGAACTTTGGGAGGCCGAGGCGGTTGGATCACTTGAGGTAAGGAGTTT GAGACCAGCCTGGGCAACATAGCGAAACCCCATCTCTACTAAAAATACAA AAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCCCAGGCTACTCGGGA GGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTAGCAGTGAG CTGAGATCACACCATGGCACTCCAGCCTGGGCAATGAAGTGAGGCTCTGT CTTAAAAAAATAATAATACAGATGACATCTCTAATCACTATGCAATCTAA TTTAAAGACGAGTGACAGGACTAGGGGAAATTCTCTAGCACAGCAAAATT TAAAAACTCTTGGGTACAAGAGAAAATCAAAATGAAGGCCACAGAAAATC TAGAAGCTTATGATCAACACACACCTATCTATACAATACTGCAAAATAAC TCAGGGCCCAAGAAAAAAGTAATAGCTTTATGTATTCATCTACTTCCATT ATTTTTTATTTAGTAAAATAACTCAAAAAACTGAAAAAAAAAAACTGAAG AAAAGCAGGAATAATATAAAAGCAAAATTAGTAACTGAATCCAATCTAGG AAAATGAAAACACAAGAAAAGGAAAAAAAACATAACTACAAAAGAGTTTC AATACTTTGGGGTCAATATTACATAAAGTAATTTGAAGACTTCCAGCAGA GATTTAAAACAATCCAATGGTAAAAGAAATGGATAAGGTTGTCAAGAGTT AATCCCATCCTCACCTACATCATCAGAAGCAGGAATGCAGACCTGCAATA TGCATTTTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00738.hp1 others(93): Show HG00099.hp2 HG00140.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18940.hp2 NA18945.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18969.hp2 NA18973.hp1 NA18979.hp1 NA19000.hp1 NA19004.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0007 a0008 a0010 a0016 a0017 a0018 a0019 a0028	a0001c0002 a0001c0003 a0001c0005 others(32): Show a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0001c0015 a0001c0018 a0001c0029 a0001c0030 a0001c0041 a0001c0042 a0001c0045 a0001c0067 a0001c0068 a0001c0069 a0001c0081 a0002c0006 a0002c0007 a0002c0008 a0002c0050 a0002c0052 a0002c0054 a0002c0074 a0003c0012 a0003c0025 a0003c0038 a0007c0058 a0008c0024 a0010c0040 a0010c0064 a0016c0036 a0017c0076 a0018c0071 a0019c0051 a0028c0035	a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 others(34): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0006 a0001c0009t0001 a0001c0011t0001 a0001c0015t0001 a0001c0018t0002 a0001c0029t0002 a0001c0030t0001 a0001c0041t0004 a0001c0042t0004 a0001c0045t0001 a0001c0067t0004 a0001c0068t0004 a0001c0069t0001 a0001c0081t0001 a0002c0006t0001 a0002c0007t0001 a0002c0008t0001 a0002c0050t0002 a0002c0052t0002 a0002c0054t0001 a0002c0074t0002 a0003c0012t0001 a0003c0025t0001 a0003c0038t0001 a0007c0058t0002 a0008c0024t0001 a0010c0040t0004 a0010c0064t0004 a0016c0036t0002 a0017c0076t0001 a0018c0071t0001 a0019c0051t0009 a0028c0035t0010	a0001c0002t0001g0113 a0001c0003t0001g0002 a0001c0003t0001g0031 others(93): Show a0001c0002t0001g0113 a0001c0003t0001g0002 a0001c0003t0001g0031 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0048 a0001c0003t0001g0055 a0001c0003t0001g0065 a0001c0003t0001g0111 a0001c0003t0001g0118 a0001c0003t0001g0134 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0142 a0001c0003t0001g0150 a0001c0003t0001g0170 a0001c0003t0001g0179 a0001c0003t0001g0249 a0001c0003t0001g0252 a0001c0003t0001g0274 a0001c0003t0001g0333 a0001c0005t0001g0066 a0001c0005t0001g0081 a0001c0005t0001g0085 a0001c0005t0001g0100 a0001c0005t0001g0187 a0001c0005t0001g0190 a0001c0005t0001g0207 a0001c0005t0001g0208 a0001c0005t0001g0215 a0001c0005t0001g0318 a0001c0005t0001g0327 a0001c0005t0001g0353 a0001c0005t0001g0409 a0001c0005t0001g0416 a0001c0005t0001g0418 a0001c0005t0001g0424 a0001c0005t0001g0425 a0001c0005t0002g0075 a0001c0005t0002g0210 a0001c0005t0002g0392 a0001c0005t0006g0079 a0001c0005t0006g0236 a0001c0009t0001g0056 a0001c0009t0001g0125 a0001c0009t0001g0130 a0001c0009t0001g0158 a0001c0009t0001g0163 a0001c0009t0001g0286 a0001c0011t0001g0201 a0001c0015t0001g0373 a0001c0018t0002g0006 a0001c0018t0002g0012 a0001c0018t0002g0046 a0001c0029t0002g0388 a0001c0029t0002g0389 a0001c0030t0001g0242 a0001c0030t0001g0270 a0001c0041t0004g0209 a0001c0042t0004g0233 a0001c0045t0001g0204 a0001c0067t0004g0244 a0001c0068t0004g0016 a0001c0069t0001g0037 a0001c0081t0001g0107 a0002c0006t0001g0034 a0002c0007t0001g0008 a0002c0007t0001g0181 a0002c0007t0001g0401 a0002c0008t0001g0049 a0002c0008t0001g0050 a0002c0008t0001g0117 a0002c0008t0001g0153 a0002c0050t0002g0232 a0002c0052t0002g0413 a0002c0054t0001g0076 a0002c0074t0002g0063 a0003c0012t0001g0314 a0003c0012t0001g0377 a0003c0012t0001g0378 a0003c0012t0001g0383 a0003c0025t0001g0042 a0003c0038t0001g0345 a0007c0058t0002g0266 a0008c0024t0001g0025 a0008c0024t0001g0116 a0010c0040t0004g0386 a0010c0064t0004g0129 a0016c0036t0002g0080 a0017c0076t0001g0004 a0018c0071t0001g0167 a0019c0051t0009g0407 a0028c0035t0010g0070	96	432	0.2222	-1259	c.41 others(11): Show c.4197_*5455del		ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding					3742		chr16	TogoVar
BARD1_chr2_214720646_214814683	214785026	AAAAAAAA others(1252): Show AAAAAAAAAAGAAAGAAAGCCATTTGTTCTTTCCATAGAAGCCTTTTCTT CCCTCTACCTCTTCCCCTTAATTTAGGTTTATAAACTCCCATTTTTACCT GTTTGGAGAGTCACATTTTTCTGTGAACTCACAAGTATATTCATAAATAA AAATCTATTTTTTCTCTTGCTAATTGTTTTACAGTTTAATTCACAGGCCT CCATACAATGAACCTAAGAGTGTAGAGGAAAAGTTTTTCTTCATTGACAA ATCATACAAGTCATCCACTTTTCTGATTTTGACGATCAACTACCTTCAAG TTGTCTTATGTTGTTTTTGTCTTTGGGATATTCATTTTCTTCAAGAAAAA AAAATTGCCTTAAAATTCTCTCCCACCCCATGACAACATAGGTAAAATCA ACCCAGCTCAGCCCAGCACAGTGGTGAGCACATGAATAGACAGTACTCAG TAAGTACTAGTGAATAAATTATTTGATATCTCTTAAATCTTTCCAAATGT TTACGTAAGAGATGTTAGAATTAATTTTAAGAGCTAGAAGAAAACTTGAA AATAATTTAGTCTAATTCTTTCATTTTAACAATGAAGGACTAAAGTTAAA ACAAAAAGAAGGAAGGAGTCCCCTAACTCCCAATCTGGCACTCTATCTCT CCACACAAACTGGATTAGCAAAAGGTAATTTCAGGCCCAGAAAAAAAAAG AAAGAAAGAAAGAAAAAGAAGAACATTAGAAACGGAGGAAAGTTGGAAAA ATAACAATAATCTGATAAGATTAAAAACAGTAATTAACAAATGATTTCAT GCTGCCTGACAAACATTCTCCTAATTAACACAGACAATCTCCTCTGACCA ACCAGGCTTCTTACAATATGTTTTGTTATTCCTATTTTAAAAAGAAAGAG AAGAGAGAGAGAGACAGAGAAAAAGAGAGAAAAAGAAACTACCCAAATTT TGTTTTCCTCCTTAAGTCACTCTTCATTCAAATCGAAAAGAACTCTGCAT AAAACTTTACCTACATTACAGAACCAAAGAAAACTTTTAATGGAATGGAG TTCTAAACCTAAGGTACTTTAAGAAGAAAACCAGTGGCCACTAGTCTTAT TCCTAAGGGATATAACATCTACCATATAGGAAATAAACATCTGATGTTAC AAGGTGTTCAATAACATTTTCAAATGGTGATTATTACTGAGAACTTTTAA TACTTAAGAGATACAACATTATTTTCATTTTCTTACGTTTTGGGGAATAA ATTTCTTTTC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0117 a0005c0006t0009g0117	1	362	0.0028	-1259	c.365 others(17): Show c.365-4776_365-3518del		BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	3/10						chr2	TogoVar
CHST11_chr12_104451948_104767014	104452864	TGGCGCGG others(1252): Show TGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGCA GGCGGATCACTTGAGGCCAGGAATTGGAGACCAGCCTGGCCAACATGGTG ACACCAATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGGGGTGCAT GCCTGTACTGAAGCTACTCAGAAGACTGAGGCAGGAGAATTGCTTGAACC CAGAAGGCGGAGGTTACAGTGAGCTAAGATCACGCCACTGCACTCCAGCC TGAGTGATAGATTCTACCTCAAAAAAAAAAAAAAAGAAGAAGAAAGTGAG ACAGAATAATGAGGGATAGTCCTTTCCTCCTTCCTCTCCTCTCTCCTTTA TTTTCTTCTCTTCCTTCTTCCCTCTCTCCTTCCTCCCTCTTCATCTTGTC TTCCCTTCCTTCCTCCCTCTCTCCTTTCCTTCGTCCTTTCTTCTTTTCTC TCCCTTTCCCTCTCCCATCCTTCCTCCTTCTCTTTCCCAGGCAATTCTTT TCTTTTCTTCCCCAACCCTTTCTCCTCTCCTTCCCTCCCCCTTCGTCTCT TCCCTTCCCCTCTTTTTCTCCCTTTCTCTTTCCCTTCTTCAATCCCTTTC TCTCTTGCTGTCTTTTTCTCCACCTTGTTCAGAAAAGCCTGCAAAGCAGA GCCTGCTCTCAGAGTCATGTCACGAGTAACCCATTTGTGTTACTTGCGGT TTACCTACCTGTAGAAAATTTGTACCCTAAGATCTCCACATACTGCGGGC AAATGGTTTATAATTCAACTTCACAAATATTTACTGTGCTCTGGTTAACT GAGTATCCTTTGTGCTAGAGGTGCCAGAGAGATGCAAATGGCAGCGCCAG TCCTTGGAGGAGCCAGTCTGGGGCCCCTGGCTGATGTTGGCAGAAGACAC ATCCCTCTCTCCCTTCAAGGATGCTGAAGAGCTCTCTGTCTACTAGTACC CTGGGCCCACTTTTCTCTCCAACAAGGTGCAGAAAAGGGCATCGTTGCCA GGTTTGCAAGATCGTAACAAGACAGTGCATTGTAGGTATAATCTGCCGGA ATGAGGAGGCGCTCAGCCTGCGCGGATTGGAAGGGCCACATAAACATCTG TCAGTCCATTGACAACAGCACCCAGAAGCCCGAATTGTGACTTCACACCG ATTTCTTCCCCTGCTATAAATTCTACAAGATCGTCAACATAAATAAGACT TTCTCCTCAACCAGTTTTTCAGGGCCATGCCAGGCTTTAAAATGGGCAGG CCCCTGGCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0095 a0001c0001t0007g0095	1	240	0.0042	-1259	c.-45 others(11): Show c.-4547_-3289del		CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding					4083		chr12	TogoVar
DPP6_chr7_154047398_154899285	154456726	TAAGAAGG others(1252): Show TAAGAAGGAAATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCC TGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGA CGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAAT TTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCT GATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGA GAGGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTT TGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTAT TATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCA TGAAGGGTTGTTGAATTTTGTCAAAAGTGGGCGAAGGACATGAACAGACA CTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGG GATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAGCCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG00673.hp2 others(27): Show HG00558.hp1 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG01433.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18747.hp2 NA19043.hp1 NA19043.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(19): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0016 a0001c0017 a0001c0018 a0001c0020 a0001c0021 a0001c0027 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0013 a0002c0014 a0002c0019 a0002c0023 a0002c0026	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(27): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0003t0008 a0001c0006t0002 a0001c0006t0003 a0001c0007t0005 a0001c0007t0019 a0001c0010t0010 a0001c0011t0003 a0001c0016t0013 a0001c0017t0020 a0001c0018t0009 a0001c0020t0001 a0001c0021t0011 a0001c0027t0027 a0002c0002t0002 a0002c0002t0022 a0002c0002t0029 a0002c0004t0004 a0002c0005t0015 a0002c0005t0024 a0002c0008t0006 a0002c0008t0012 a0002c0009t0004 a0002c0013t0018 a0002c0014t0025 a0002c0019t0001 a0002c0023t0014 a0002c0026t0026	a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 others(27): Show a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0003t0008g0025 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0007t0005g0038 a0001c0007t0019g0037 a0001c0010t0010g0009 a0001c0011t0003g0012 a0001c0016t0013g0014 a0001c0017t0020g0033 a0001c0018t0009g0023 a0001c0020t0001g0010 a0001c0021t0011g0022 a0001c0027t0027g0007 a0002c0002t0002g0020 a0002c0002t0022g0030 a0002c0002t0029g0002 a0002c0004t0004g0008 a0002c0005t0015g0011 a0002c0005t0024g0031 a0002c0008t0006g0034 a0002c0008t0012g0001 a0002c0009t0004g0004 a0002c0013t0018g0026 a0002c0014t0025g0029 a0002c0019t0001g0021 a0002c0023t0014g0017 a0002c0026t0026g0006	30	38	0.7895	-1259	c.358 others(19): Show c.358+10411_358+11669del		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
MKRN1_chr7_140448033_140484505	140469251	GGGAGGCG others(1252): Show GGGAGGCGGAGCTTGCAGTGAGCTGAGATCCCACCACCGCACTCCAGCCT GGGTGACAGCGAGACTCCATCTCAAAAAAAAAAAAAAATTTACTATGACA CTGTCAAAAGTCTTACCGAGGGTAGTGGTTTAAAGTACATACAAAACTCT TTGATATGCCTTCCTTCAAAAGGTAGAGCCCAATCCTCTCCCTTTACATG TGGGCTGGACTTAGTAACTTAGTCCAGAATCAGTGGAAATAACAGTATAT GACTTCTGACACTAGGTCATAAAAGGCATTGTGGCTTTTCCTTGCCTCCT CTGTTAAATTGTTTGCTCTGGGGAAAGCTAGCTGCCAAGCTGCAAGGATA CTAAAGTATCCCTATGAAAAGGCCCATGTGGGCCAGGCGGGGTGGCTCAC GCCTGTAATCCCAGCGCTTTGGGAGGCAAAGGCAGGTGGACTGCCTGAGC TCAGGAATTTGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACT AAAAATACAAAAGTTAGTGGGGTGTGGGCCGGGCGCGGTGGCTCATGCCT ACAATCCCAGCACTTTGGGAGGCTGGTGTGGGCTGGTCAGGAGATCAAGA CCATCCTTTCAACAAGGTGAAACCCCATCTCTACTAAAAATACAAAAATT AGCTGAGTGTGGCGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGG CTGTGCCACTGAACTCCAGCCTGGCGACAGAGCTAGGCTCTGTCTCAAAA AAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGCATGCTTGTA ATCCTAGCTACTCTGGAGGCCAAGGCAGGAGAATCTCTCGAACGCGGGAG GCAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTG ACCAGCAAAACTCCGTCTTGAAAAAAAAAAAAGGCCAAGTGGTGAGAAAC CAAAGTCTCCTGCCAACAGTCATGAGAGTAAGACCTCTTAAAAACAATAC TGGGCTAGGCACCATGGCTCACGGCTGTAATCTCAGCACTTTGGGAAGCC GAACCGCGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAC ATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGGT GGCGGGCGCCTGTAATCCCAGCTACTCCGGAAGATGAGGCAGGAGAATCG CTTGAACCCA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0068 a0002c0003t0001g0068	1	434	0.0023	-1259	c.314 others(17): Show c.314+1373_314+2631del		MKRN1	ENSG00000133606.11	transcript	ENST00000255977.7	protein_coding	2/7						chr7	TogoVar
MYT1_chr20_64159452_64247253	64175074	TCTCCTGC others(1252): Show TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCG TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTG GCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGACT TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCC CTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCG TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCC CTGGCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0013 a0001c0004t0004g0013	1	223	0.0045	-1259	c.-99 others(19): Show c.-99+10392_-99+11650del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
SFI1_chr22_31491536_31623588	31591768	CGGGGGGG others(1252): Show CGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACC TCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG CCAGGCGGAGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGTT GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCA CCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCAGGCGGAGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGG TTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCC CATCTCCCTCCCGGACGGGCTGGCTGGCCGGGCTGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGG CTGGCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02258.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG02258.hp2 NA21309.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0004 a0011c0010t0001g0005 a0011c0010t0001g0006 others(1): Show a0011c0010t0001g0004 a0011c0010t0001g0005 a0011c0010t0001g0006 a0011c0010t0001g0007	4	322	0.0124	-1259	c.154 others(19): Show c.1544+2198_1544+3456del		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SIRT4_chr12_120297321_120318249	120313558	AGGCTGGT others(1252): Show AGGCTGGTCTCGAAGTCCTGAGCTCAAGCTCTCCACCCGCCTCAGCCTCC CAAAGTGCTGACTTTATAGGCACGAGCTACCACACCCGGCCAAAACTTTT TTTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTG ATCTTGGCTCACTGCATCCTCTGCCTCCTGGATTCAAGTGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGAGATTACAGGCACGTACCACTACACCTGGC TAATTTTTTATAGTTTTGGTAGAGACGAGGTTTCACCATATTGGCCAAGC TGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAACCACCGTGCCCGGGTGTTTTGTTTTGTT TTGTTTTGTCTTTGAGATGGAGTCTCGCTCTGTAGCCCAGGCTAGAGTGC AGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTCAAGCAA TTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACC ATGCCCGGCTAATTTTTGTATTTTCAGTTCACCATGTTGGCCAGGCTGGT CTTGAACTCCTGGCCTCAAGTGATCCACCTGCCTTAGCCTCCAAAAGTGC TGGGATTACAGGCATGAGCCACCAAGCCCGGCCAGTGGTCATCTTTCCAT GTCCTAAGTGCTATGGTATTGTGACTGATAGGCTGATGTTCACAAGCATT CCCTGGACCCTGCTCTTCGTTTATCTTTGCATTCACTTGTTTCATTTCTT TACAGATCCCTAAGGAGCATCCGTTTTTTCTCAAACTAATCAAAGCTCGC TGAGTGCAGCCTGTAGGGGGCAACAAATCAACACCTCTCTGCCAGCCCAT TTCTCAACCCGGCAGCTTTCCCAGCCAAAGAGTTAAGGTCTAGGCTGAGG AGATTTGCCCCAGAACAAAGACTTTTTCAAAGAAGCAGCTGCATTCATTT CCTTTTTATCTCACCTGGCAGGAGAAATGGCCTGGGACATATGTAGGCCA GAGTGGTCTCTGGAGCGCCAACCCAAGGATCTCACTAATTTTGTGGGGTA AGGGTAGAAGGAAATGACTAAATTTATAATCCAAATGGTTAAGTGTCTTT AACTGAACCATTTTGATATAATTTTTGAAAAAATAAGCAATGGCCATGAA TTAATTTTTTATAACCAAGAGATAAAGGAATCTTTCAAAAATAGCACAGC AGCTGGGCGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0003 a0000c0006t0003	a0000c0006t0003g0067 a0000c0006t0003g0067	1	380	0.0026	-1259	c.52 others(10): Show c.523_*1781del		SIRT4	ENSG00000089163.4	transcript	ENST00000202967.4	protein_coding					310		chr12	TogoVar
ZNF516_chr18_76352682_76500242	76392974	GGGGAAGG others(1252): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGG GCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAG GTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0179 a0001c0001t0179	a0001c0001t0179g0293 a0001c0001t0179g0293	1	346	0.0029	-1259	c.181 others(21): Show c.1811-13930_1811-12672del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
CCSAP_chr1_229316015_229348047	229331141	TTCTCAGG others(1251): Show TTCTCAGGAAACCCTTAGACCTCAAATTATTCCTAGAAATAGCTTTTCCA ACACAAAGACCAGTGTGTTGTAAAGATAACCGGCACACAGGAGGGTAGGC AACAAGGGGGACCGGGAGAAGCAAAAGGCCTGAAATCCAAGGAGTCTTAT TCAGACTACAAAATAGCTGTGCTTATAGAAAAAGACAGAAGAATTATCTG CAACAGGAGGAGAGAAAAGATGGAAAATACAGAAAAGGTAAAACTCATCA CCGTAACATTAATATTTATAAAACTCTTTTGTAAAACTCTTGAAATAGTG GCTGGCACAAGAGAAGTGTATATAAGTGTGGTATTATATACATGTGTGTG TCTCTGTGTGTGTTCGTTTTTGTCCATAGTTCGTGGCTCCTAACTCCCAT AGCCCCTGTTCCAGTCTTTTGTTATAATGTTGGGTGTGTTAAACCTCAGG GGCAGGCCCCCAGAAACCGAATCTCTCCTGCTCTCCTTTCCCCTGCCACT AGGCAGGACTCTAATCTTCCACACCTTCCAATTGTAGCTAAGCTCAGGAG GTTCCTGGAGGCCGGCGAGACAGCATGGAAGCTTCTCACCCCTTTCCCCA TATCTCACCCTGTTCATCTCTTCATCTGTGTCCTTTCTAATATCCTTTTA TTATTATTATTATTATTATTATTATTATTATTATTATTATTTTGAGACAG AATGTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCA CTGCAACCTCTGCCTCCCGAATAGCTGGGATTACAGGTGTGTGCTGGGCT CAAGCAATTCTCTCACCTCAGCCTCCCAAATAGCTGGGATTACAGGCGTG GGCCACAACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCA TCATGTTGACCAGACTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGG CCTCTAGTATCCTTTATAATAAACTGGCAAACATTAAGTGTTTCCCTGAG TTCTATGAGCCACTCCAGCAAATTAATCAAACCTAAACGGGGATAATGGG AACCCCAGTTTGAAGTTGGTCAGCCAGAAGTTCCCAAGGCCTCGACTTTC GACTGGTGGGAAGGAGGGGGCAGTCTGTGAGACTGAGCCCTCAACCTGTG GGACCTGATGCTATCTCCAGGCAGACAGTGTCGGAACTGATTGCTTGTTT GCTGGTGGG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	436	0.0023	-1258	c.368 others(17): Show c.368-5393_368-4136del		CCSAP	ENSG00000154429.11	transcript	ENST00000284617.7	protein_coding	2/3						chr1	TogoVar
TMEM44_chr3_194582678_194638419	194634644	ACTGTCTC others(1251): Show ACTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGCGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCA GGAGTTTGAGACCACCCTGGCCAACATGGTGAAACCCCATCTCTACTAAA AACACAAAAATTAGCCAGGCATGATGGCAGGCGCCTGTAATCCCAGCTAC TCGGGAGACTGAGGCAGGAGAACTGCTTGAACCTGGGAGGCGGAGATTGC TGTGAGCTGAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGA CTCCATCTCAAAACAAAACAAAAAATAAAATGTACAATTCAGCAGTTTTT AGTGTATCCATAGCGTTGTGCAACCAACATCACTGTCTACTTTTAGAACA TTTTCATCACCCCCATCTGAAAAGAACCCGGCCCACTGGCAGTTACTGTC CACTCCCCTCAACACTCGCAGCCCAGGAATCGCAAATCTACCTTCTGTCT CTATGGATTTGCCCATTTTGGACATTCCACATCAATGGAATCATCCACTA TATGACCTTTCTGTGACTTTCACTTAGCATGTTTTCAAGGTTCATTCATG TTGCTGCGTGTTATCAGTACTTCATTCCTGTTTATGGCTCATCATAATAC ATGGTATGGGTATTTTTATACCACATTTCGTTTATCCACTCATTAGTGGG ATGTTTGGATTGCTTTCACCTTTGGGCTATTATGAATAATGCTGCTCTGA ACATTTGTGCACAAGTTTTTGTGTGGACACAGGTTTCATGCTCTCTTGGG TATATACCTAGGAGTGTCCTTGCTGGGATCTGTGGTAACTGTGTTTAATG TTTTGAGGAATTGCCAGACTATTTTCCAAAGTGGCTACACTATTTTAGTG GTTCACTGTGTTTTCAAAGTTATGATTTGGCTTGGTAAGGTGGCTCATGC CTGTAATCCCAGCACTCTGGGAGGCCAAGGTGGGAGGATCAGTGGAGCCC AGGAGTTGGAGACCAGCCTAGACAACATAGGGAGACCCCGGTCTCTCAAA ACAAAACAAAGTTATAACCTCTCAGGAGAAATGAAATCTAATCACTAATT TGATGGTATTAGATTGGTGCAAAAGTAATTGTGGTTTTGGCTATTAAAAG TACTGGAAGCGGTAGCTCACGCCTGTAATCACAGCACTTTGGGAGGCTGA GGCGGGTGGATCACTTGAGGTCAGGAGTTCCGGACCAGCCTGGCCAACAT GGTGAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02723.hp2 others(6): Show HG01884.hp2 HG02145.hp1 HG02723.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG04184.hp2 HG04228.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0003t0029 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0029 a0002c0006t0001 a0002c0006t0002 a0002c0006t0010	a0001c0001t0001g0187 a0001c0001t0002g0186 a0002c0003t0029g0063 others(6): Show a0001c0001t0001g0187 a0001c0001t0002g0186 a0002c0003t0029g0063 a0002c0006t0001g0061 a0002c0006t0001g0062 a0002c0006t0002g0058 a0002c0006t0002g0059 a0002c0006t0002g0060 a0002c0006t0010g0057	9	404	0.0223	-1258	c.-26 others(11): Show c.-2687_-1430del		TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding					1226		chr3	TogoVar
YBEY_chr21_46281342_46302751	46292992	ACAGCCAC others(1251): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCTGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	404	0.0025	-1258	c.339 others(17): Show c.339+1538_340-1905del		YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr21	TogoVar
P2RX5_chr17_3668227_3701155	3686190	GAGAACAG others(1250): Show GAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCC CCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCA GGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAG CTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACAC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTC CCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACC CTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACA GCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAG GAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAG AACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	362	0.0028	-1257	c.981 others(16): Show c.981+565_981+1821del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
ZNF99_chr19_22747183_22789151	22756441	CTCTTCAC others(1250): Show CTCTTCACATTTGTAGGGTTTCTTTCCAGTATGAATTATCCTATGTTTAG TAAGGCGTGAGAAATGGCTAAAAGCTTTGCCACGTTCTTCACATTTGTAG GGTTTCTCTCCAGTATGAATTGATTTATGTTTAGTAAGGTGTGAGGATTG CTTAAAAGCTTTGCCACATTCTTCACATTTGTACGGTTTCTCCCCAGTAT GAATTATCTTATGTTTCATAAGGGTCGAGAAATTGTTAAAACCTTTGCCA CATTCTTCACATTTGTACGGTTTCTCCCCAGTATGAATTATCTTATGTTT CATAAGGGTTGAGGAATTGTTAAAAGCTTTGCCACATTCTTCACATTTGT AGGGTTTCTTTCCAGTATAATTATCTCATGTTTTCTAAGGGCTGAGAAAT GCTTAAAAGCTTTGCCACATTCTTCACATTTGTAGGGTTTCTCTACAGTA TGAATTACCTTATGTTCCATAAGTTTTGAGACCACTTAAAAGCTTTACCA CATTCTTCACATTTGTATGGTTTCTCCCCAGTATGAATTATCTTATGTTT CCTAAGGGCTGAGAAATTGCTAAAAGCTTTGCCACATTCTTCACATTTGT ACGATTTCTCCCTAGTATGAATTAGCTTATGTTTCTTAAGGGTTGAGGAA TTGTTAAAAGCTTTTCCACATTCTCCACATTTGTAGGGCTTCTCCCCAGT ATGAACTGCTTTATGTCTAGTAAGGTGTGAGGACTGCTTAAAAGCTTTGC CACATTCTTCACATTTGTATGGTTTCTTCCCAGTATAAATTATCTTATGT TTCCTAAGGGTTGAGGAATTGTTAAAAGCTTTGCCACATTCTTCACATTT GTAGGGTTTCTTTCCAGTATGAATTATCTCATGTTTTCTAAGGGCTGAGA AATGTTTAAAAGCTTTGCCACATTCTTCACATTTGCAGGGTTTCTCTCCA TATGAATTACCTTATGTAAAGTAAGTTTTGAGGACCACTGAAAAGCTTTA CCACATTCTTCACATTTGTAGGATTTCTCTCCAGTATGAATTATCTCATG TTTTCTAAGGGTTGAGGAATTGTTAAAAGCTTTGCCACATTCTTCACATT TATAGGGTTTCTTTCCAGTATGAATTATCTTATGTTTTCTAAGGGCTGAG AAATGCTTAAAAGCTTTGCCACATTCTTCACATTTGCAGGGTTTCTCTGC AGTATGAATTACCTTATGTACAGTAAGTTTTGAGGACCACTTAAAAGCTT TACCACAT	C C	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	NA19068.hp1 NA19068.hp1	a0000 a0000	a0000c0029 a0000c0029	a0000c0029t0027 a0000c0029t0027	a0000c0029t0027g0215 a0000c0029t0027g0215	1	344	0.0029	-1257	c.221 others(9): Show c.2211_*872del	p.Glu others(19): Show p.Glu737_Ter865delins???	ZNF99	ENSG00000213973.10	transcript	ENST00000596209.4	protein_coding	4/4	3602/7861	2211/2595	737/864			chr19	TogoVar
ADGRA1_chr10_133082924_133136675	133135419	TCTGGTCT others(1249): Show TCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTGGTCTCTGGGTCCCTGTGG TGGGGGGGGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCT GTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTC CCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCGCTGG GTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTC TCTGGGTCCCTGTGGTGGGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTC TGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGTGG GGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTGG GGGCGGCTGGTCTCTGGGTCCCTGTGGTGGGTCTGGTCTCTGGGTCCCTG TGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCAGCTGGTCTCTGGGT CCCTGTGGGGGTTTCTGGTCTCTGGGTCCCTGTGGGGGGGTCTGGTCTCT GGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTGGGGGGGTCTGGTC TCTGGGTACCTGTGGGGGCAGCTGGTCTCTGGGTCCCTGTGGGGGGGTTC TGGTCTCTGGGTCCCTGTGGGGGCGGCTTGTCTCTGGGTCTCTGTGGGGG GGTCTGGTCTCTGGGTCCCTGTGGAGGCGGCTGGTCTCTGGGTCCCTGTA GGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCTGT TGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTGGTCTCTGGGT CCCTGTGGTGGGGGGGGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCT GGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTC TCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTTCTG GTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCCTGTGGGGGGG TTCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGG TGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTG TAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCC CTTTGGGGGGGTCCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTG GGTCCCT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02559.hp2 HG01928.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0030 a0001c0001t0021 a0001c0001t0030	a0001c0001t0021g0315 a0001c0001t0030g0036 a0001c0001t0021g0315 a0001c0001t0030g0036	2	368	0.0054	-1256	c.59 others(11): Show c.5909_*7164del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding					3745		chr10	TogoVar
CCDC127_chr5_191868_223153	211742	CGACATCG others(1249): Show CGACATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGG ATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATGCTCGACATCGC ACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAG ACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCACACTGCAGCC ACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCA GTGTGAGCACACTGATGCTCGACATCGCACACTGCAGCCACGACGAGACA GCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACG CTGATGCTCGACATCGCACACTGCAGCCACGATGAGACAGCACCACACAC CCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGA CATCACACACTGCAGCCACGATGAGACAGCACCACACACCCATCACGATG GGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGAATACT GCAGCCACGATGAGACAGCACCACACACCCATCACGATGGGGCAGACGGG ACAGCAATGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCATGAC GAGACAGCACCACACACCCATCATGATGGGGCAGACTGGACAGCAATGTG AGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGATGAGACAGCA CCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTG AGATGCTCGACATTGCACACTGCAGCCACGACGAGACAGCACCACACACC CATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTTGAC ATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGG GGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACACTG CAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGA CAGCAATGTGAGCATGCTGAGATGCTCGACATTGCACACTGCAGCCACGA TGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGT GAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGACGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCT GATGCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02258.hp1 others(9): Show HG01261.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG03098.hp2 HG03579.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0187 a0001c0003t0188 others(8): Show a0001c0003t0040 a0001c0003t0187 a0001c0003t0188 a0001c0003t0189 a0001c0003t0190 a0001c0003t0191 a0001c0003t0197 a0001c0003t0198 a0001c0003t0199 a0001c0003t0200 a0001c0003t0201	a0001c0003t0040g0038 a0001c0003t0187g0241 a0001c0003t0188g0245 others(8): Show a0001c0003t0040g0038 a0001c0003t0187g0241 a0001c0003t0188g0245 a0001c0003t0189g0253 a0001c0003t0190g0255 a0001c0003t0191g0252 a0001c0003t0197g0247 a0001c0003t0198g0242 a0001c0003t0199g0243 a0001c0003t0200g0246 a0001c0003t0201g0244	12	406	0.0296	-1256	c.121 others(17): Show c.121+3731_121+4986del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
RGL3_chr19_11389060_11424314	11412054	CGGATCAC others(1249): Show CGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACAAACATGGAGAA ACCCCCCTCTCTACTAAAAATAGAAAATTAGCCGGGTGTGGTGGTGCACG CCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC CAGGAGGCAGAGGTTGAGGTGAGCTGAGATCCTGCCATTGCACTCCAGCC TGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTAA GCCTGTTGTCAGACATGTGTACCCAAAACATTTATGTATGAATTGACATA AGCCCGGGATTTGTTTTAAAATCATCCTGAAAATATTTTTTTGTGAAATT GATCATCGTTGATGATAGGTGATGGATGTCTGAATGTTCTTCATACTATT CTCTCTACTTTTGTATATGTCTGAAATTTTCCATAGCAAAAAGTGAACCC AAAATAAAGTTGTTAAAATAAAATAGATGAGCATGGTGGTCATCTACTTT CTTCTAAACTACATGGTGCAAGTGTAGTCTTAGCTACTCAGGAGGCTGAG GTAGGAGGCTCACTTGAGCCCAGGAGTTCGAGTCCAGCCTGGGCAACAGA GCAAGACCCTGTATCTAAAAATAAAATTCATAGTCGGGTGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCAAGCGGATCACGAGAT CAGGAGATCGAGACCATCTTGGCTAGCACGGTGAAACCCCGTCTCTACTA AAACTACAAAAAATTAGCTGGGCCTGGTGGCGGGCGCCTGTAGTACCAGC TACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGT TGCAGTAAGCCAAGATCGCGCCATTGCACTCCAGCCTAGGCGACAGAGCG AGACTCTGTCTCAAAATAAAATAAAAGTAAAAATAAATAAAATAAAATAA AATGAAATAAAGTGTGTCCCAGGGCCTAGCACATAGAAGGTCTTAAACAA ATGTTAATTTTCTCCTCTGACCTCAAAGAAACTAGGGCAGCACTTTCCAT ATAATTCTCTGCAATGGTGGAAAAATTATCTATCTGCTATGTCCAGTGTG GTGGCTGAGCACTCAAAATGTGGGTAGTGGGATTGAAGACCTGAATTTTT GCCTTTGCTTGACTGGATTTTGAAAAAGAAAAAAAAAAAAAAAAAAAGCG GGCCAGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGA GGTGGGT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0383 a0003c0008t0001g0383	1	402	0.0025	-1256	c.637 others(17): Show c.637+2627_637+3882del		RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18						chr19	TogoVar
RPH3AL_chr17_207389_357807	287555	TCTCTCCA others(1249): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACAC CCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCACC GACAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTCTC CACCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTCTC TCCACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACACTCTC TCTCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCCACCC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTC ACTCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGA CCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCA GACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGGCCTCACACCCTCTCTCCA CCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTC CACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCACTCCCTC TCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACACCC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACC GTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTC TCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCC TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACC TCGCACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(23): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG01070.hp1 HG01070.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01943.hp1 HG01943.hp2 HG02027.hp2 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03831.hp1 HG04184.hp1 HG04184.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0002c0005t0023 a0004c0007t0007	a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0110 others(23): Show a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0002g0061 a0001c0001t0003g0084 a0001c0001t0004g0008 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0005g0100 a0001c0001t0007g0032 a0001c0001t0008g0130 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0015g0036 a0001c0001t0016g0082 a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0002t0001g0057 a0001c0002t0003g0033 a0001c0002t0009g0126 a0002c0005t0023g0125 a0004c0007t0007g0117	26	133	0.1955	-1256	c.352 others(17): Show c.352-6957_352-5702del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SLMAP_chr3_57751309_57935003	57891820	ACCCGCCT others(1249): Show ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATG TCCGGCCTGGGTTTTTAATCTTAAAGAACAAATTGGACTAATGAGCAAGA ATATTTATTTCAGTGTTGTTTAAAAGCAACAAGAGGAAAGCATTAGGGTC CATTAATAAGGGTATTTATTAAATAAATTATGGCAAATAAGTCCATGTAA ATGAATAGAATATATTCTTTAAGAATAATACAAATATAAGTTTTAAATAC TCAGGGATTTTTCTATCAGTAGTGAACATTTTACTAGCACCTTTCACAGT TAATAGGCAAAGATATGCTAATCCTTGTAACAAACCAGATGGCTGAAATA AGTTACATTTTAAATCGAGCTATAAAGTGTTTTCTTTTGGATTTGGCTAA ATTGTCTTTAATTGGCAATGTTTTTGGTGGAATTTTCTTGTTTGGACTGA AAATAGCAGTTGCCATAAATGAACAATTACCGACTGTTACCAGTCTTACC TCTTCTCTTACCTCTAGAAGATGTATCACCTAATGCAAAATGTGCTTTCT GTTTAATCTCTAACTCAACTTGCAGTCATTACATGTCTATATATAGCTTT GGAGGTAGAGGTAGAAAGAATATGTGTAGATAATTCTACCACTAACTAGC TGTACACCCTCAGGCAACTTCAGTTCTTTAAACCTCAGTTCCCTCACTTG TGAAGTGAGATTGACAAAATGTGAGCCACCACTCATGGTCTTGTGTTTCA TTCTTGAATAGATTTGATTTGCCTCTATGTAACTATAGTATCAGGACACA ACATTGAGGATCCATGACTTGACTTGCTAAAAACTTGCTTTCTGGCCAAC CTTGGTGACTCACACCTGTAATGCCAGTATTTTGGGAGGCCAAGATAAGA GGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACGTAACAAGA CACTGTCTCTTAAAACACACACACACACACACACACACACATACACACAC AAACTTGCTTTCTTTTTTTTTTTTTTTTTTTGGAGATGGAGTCTCGCTCT GTTGCGCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCAAGCTCT GCCTCCAGGGTTTGTGCCATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGG AGTACAGGTACCCACTACCACGCCTGGCTAATTTTTTGTAGTTTTAGTAG AGATGGAGTTTCACTGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCT TGATCCG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA19004.hp2 HG02735.hp1 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0019 a0001c0002t0001 a0001c0002t0019	a0001c0002t0001g0221 a0001c0002t0019g0220 a0001c0002t0001g0221 a0001c0002t0019g0220	2	310	0.0065	-1256	c.136 others(19): Show c.1360+1753_1360+3008del		SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	15/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC57_chr17_82096470_82217842	82132092	TTGGGTGA others(1248): Show TTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAA TAAATAAGAAAGGATAGCCAAGAAAATTTTGTAAAGGAACAGAAATAAGG TCAAGCTTGCTCTAACAGATATTAAAATAGGTCACAAAGCCACAGTATTT AAAGCGGTATAGTACCATTTCAGGAACAGACAACTCATTGGAACTGTGTA GAAAACCCCAAAATCAATGCAGAAGCTGAACTTCTCAAGGCTGCAACATG AGACAGATCCACAGTCTACAAAACACTGCCTGACTTTTCAAAAAGACACG GAAAGGCGGAGGGAGTGTTCTGGGTTAAAGGATGAAAACACAAGAGCCAG ATGCAGTGGGAATTCGGGACTGGCTCTGAGGTTACGGAAAATTAGCAAGG AACACACATAAATCACCCACAGAAGAAGAACTATAAATGGCCAATAAATA GATTAAAGCATTTAATGCCACTAAGGATATAAGAAATTTCCTTCCTTCTT TGTTTTTTGGTAGAGACGGGGTCTCGCTGTGTTGCTCTGGCGGGTCTTGA ACTCCTGGGCTCAAGCAGTCCTCTCACCTCAACCTCCTGAGTCTGGGATT ACAAGGTGTGGACTACCACAAATGGGTAATTTATTTTTATTTTTATCTTT CTGTAGAGACAACCTTGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTG CTCTGTCGCCCAGGCTGGAGTGTAGTGGTGCCATCTCGGCTCACTGCAGC CTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGCAGC TGGGATTACAGGCGAGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTTTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGA GCCACCGCACCTGGCCATCTTGCTATCTTTTTAAAGATACAAGTTGTGGC TGGGTGCACTGACTCATGCCCATAATCCCAGTACTTTGAGAGGCCATGGT GGGCAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGC AAAACTCCATTTAAACAAAAAATATAAAAATTAGCCATTAGGCATGGTGG TACACACCTGTGGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGATCACT TGAGCCTAGGAAGCCGAGGCTGCAGTGAGCTGTGATTGCACCACTGCACT CCAGCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	252	0.0040	-1255	c.257 others(18): Show c.2577+726_2577+1980del		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	16/18						chr17	TogoVar
CCDC127_chr5_191868_223153	211932	CACTGCAG others(1247): Show CACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGA CGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCACACTGCAGCCA CGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAA TGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACAG CACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGC TGATGCTCGACATCACACACTGCAGCCACGATGAGACAGCACCACACACC CATCACGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGAC ATCGAATACTGCAGCCACGATGAGACAGCACCACACACCCATCACGATGG GGCAGACGGGACAGCAATGTGAGCACGCTGATGCTCGACATCGCACACTG CAGCCATGACGAGACAGCACCACACACCCATCATGATGGGGCAGACTGGA CAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGA TGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAATGT GAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACGACGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCT GATGCTTGACATCGCACACTGCAGCCACGATGAGACAGCACCACACACCC ATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCGACA TCGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGG GCAGACGGGACAGCAATGTGAGCATGCTGAGATGCTCGACATTGCACACT GCAGCCACGATGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGG ACAGCAATGTGAGCACGCTGAGATGCTCGACATTGCACACTGCAGCCACG ACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTG TGAGCACGCTGATGCTTGACATCGCACACTGCAGCCACGATGAGACAGCA CCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCTG ATGCTCGACATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCA TCACGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACAT CGAAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02273.hp1 others(9): Show HG01884.hp1 HG02109.hp2 HG02273.hp1 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG02897.hp2 HG03453.hp1 HG03486.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0039 a0001c0003t0041 others(6): Show a0001c0003t0038 a0001c0003t0039 a0001c0003t0041 a0001c0003t0192 a0001c0003t0193 a0001c0003t0194 a0001c0003t0195 a0001c0003t0196 a0001c0003t0202	a0001c0003t0038g0039 a0001c0003t0039g0040 a0001c0003t0041g0041 others(6): Show a0001c0003t0038g0039 a0001c0003t0039g0040 a0001c0003t0041g0041 a0001c0003t0192g0248 a0001c0003t0193g0240 a0001c0003t0194g0249 a0001c0003t0195g0254 a0001c0003t0196g0251 a0001c0003t0202g0250	12	406	0.0296	-1254	c.121 others(17): Show c.121+3543_121+4796del		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2						chr5	TogoVar
PCBP3_chr21_45638725_45947450	45923904	GGGAACAG others(1247): Show GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCAGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAG GTCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACCGGGAACGGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGTGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGTGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0224 a0001c0001t0019g0224	1	292	0.0034	-1254	c.718 others(17): Show c.718-5977_718-4724del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
CSN1S1_chr4_69926068_69951574	69934121	TCAAAAAT others(1246): Show TCAAAAATCATCGTATTATATGTGTATTATTATATTGTTATTGTCATTTT AGTTACTTTTTGTTTTACAATTCTTGCATTGTTTTTCACAGAAACTTCCT CTTAGATACCCAGAACGCCTTCAGGTAAATATTCTATTCTGCATTCCAAG AACTCACTCTAATTGTGAAGCACAAACTCCAAATGTGCGCTTCCCTTCTC TATGAAACAGCCTGCTTCACTTTTGCTGACGCATCATTTCTTTAGTTCAA GCACTGTCAGATGGTATTTGCTCTCACAAAACTTAGAGGACGGCACACTG ACTTAGATAAACATTTATGTTAATAAAAATCTTATTTTTATTCCAGAGAA ATAGTTAATTAAACAGAATGTGTTAACATGTTTATTTTAATGTATTCTTG CTTTTTTCAATGTTACACATATTCAAGCATGTGATTTACAGTTTGGTCTC ATTTGATATGTTGAATCTTGAATTAGTTACCTCTACCACAACTTTCTATG AGCACAACTAATCCTACATTCTGTCCTGCAATTGGAATAATACCATTTAA AAATTATTATTTTTTACAGAATCCATCAGAGAGCAGTGAGGTAAGCTCTG TTTATGGGGAGTCAGGATTCTCTCTTCCTTTTGCTCTCTTTCAGTTAGCT GTCATGCATGTTGAATGTCTTCTTCTTTACAATTTTTATTTCCCTTCAAA TGCATCCAACAACTCAAGTACCTGGATTGCTCTCTAAATTCTGTTTTGAT GAAATTCCTATTTGACTTCTTAGCCATTTTGGTAAGCATAGACTTATTAA ATTTACTGGCCTGGTGAAGAAGGAACTAATTAAGGTGTAGGTGTTCTTTA GATTGTAAAATTAGATCATAAAACTAAAACTAATTATTTGTTCTTCTAGC TAAGAAATCTGTTGGTTTACCGAATTAAATGGAGCATTTGTGTTCAAATG AGAATAATGTGGTTTTTTGGTGTTTTTATTATTTTTATAATTCACAATTT AATTTCAATAAGAAATTATCAAAGAAGGAAAGTTTCTCAGGCTTCTTCTG GTAAGTGTTATCCACTTATTCTTAAAAGAAGAAACATACTTTTATGGGAA AAATTATTTAATTTTTGTTTATAAAAATGTTTTTTTCACTGGGTGCTGTG GCTCACACCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATTGC TTGAGCCCAGGAATTCGAGATGAGCCTAAGCAACATAACCAAACCCCGTC TCTA	T T	exon_loss_variant exon_loss_variant	HIGH	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0001 a0006c0026t0001	a0006c0026t0001g0060 a0006c0026t0001g0060	1	448	0.0022	-1253	c.52- others(13): Show c.52-84_106-546del		CSN1S1	ENSG00000126545.14	transcript	ENST00000246891.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744702	GGGGGTCG others(1246): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA21309.hp2 HG03453.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0079 a0001c0001t0007g0071 a0001c0001t0007g0079	2	366	0.0055	-1253	c.462 others(15): Show c.462+36_462+1288del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746293	CCCGGGGG others(1246): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAG TGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	366	0.0027	-1253	c.462 others(17): Show c.462+1608_462+2860del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
ADARB2_chr10_1172313_1742525	1235540	TCCCCTCT others(1245): Show TCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTC AGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGA GCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCA CTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATT TGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGT AGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAG GAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCG AAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGT TCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCA GCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGC GCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTG TTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCAT GACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTT GCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCA CCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTC TTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02735.hp2 HG02040.hp2 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0002 a0001c0001t0011 a0002c0002t0002	a0001c0001t0011g0017 a0002c0002t0002g0066 a0001c0001t0011g0017 a0002c0002t0002g0066	2	106	0.0189	-1252	c.136 others(19): Show c.1362-2947_1362-1696del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
CCSER1_chr4_90122394_91610295	91239028	TTTAGCCA others(1245): Show TTTAGCCAGGATGGTCTCGATCTTCTGACCACGTGATCCCCCCCACCTCA GCCTCCCAAAGTGCTGGTATTACAAGCGTGAGCCACTGCGCCCGGCCTAT TTTAAGCATTTGTAATGCATTAATTCATCTAATCATCACAACCATTATAA TCAACTTCATCTTATGGATGGGATAACTCAAGTATAAGGAAGTTAAATAA TTTCCCCTAGATCACACAGCTAGTAAGCAACAAAACTAGGGTTCGAATAT CTAGGCAGTCTCATTTTAGAATGTGCGAATTTAACTACATACTGCCTCTT CTGACAGACCGTTGACGACTATTACCTGTGAAGGTCCCAGCCACATTTGC ACATGTCATATTGTGAAGTCATAGCTTCCTTAGTTTTCTGATAAGTTGCA GAGGTTGCAATGTGGGAGATTTTCTTGCTACTTAAGAAATACTTTGTAAA TCTCACAATGATTAAGAAGTCTGAGAAGCTCTGACAGCTCTCAGCAAAAT TTTAGAAATCCAGGTGAAAAATCAGTGTTTTTGAAAATGTATGTTTATAT TACAGATGACTATAAAAAATTGCAAATCCTTAAATTATGAATGACCAATA TCTAAAATTTCACATCAACAAGAAGAAATATATTAAACATTCAGATGGAT TGGCTTTTTACAAGATTTTCAATATTTGGAATTTTTGTCATAAGTAAAAT CTAATGTTAATACGTATGTGATTCATGGTAGTTCCTATTTTAGAACTTTC TAACCTGTCATTATGAGATATTTTTATCTGTCTTGCTCCCATGCTTTTCT GTGCATGTCACTGACTAAAATAATTTACATAAGAAAAAATTCAATTTGTA AAGAAAGGACACATTCAGAGAATAATTTTTATTAATATTATCTTCATGAT AACATATCAATTTGTTTATAAATAAAGCCGTGTGGCCTCATTACTGACTT AGAGAATACTTGGCAGGTACTCATTTTTGTCTCTCTTGGCTAATGGTTAA TGCAGTGCACCTGTTTTAGAACACTGAAATCTCTACTCATAAAATACATT TTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCACGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACG CCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACATACGCCAGCC ACCACGCCCGGCTAATTTTTCTGTATTTTTAATAGAGACGGGGTTTCCCT GTG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp2 HG03017.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0016	2	38	0.0526	-1252	c.221 others(23): Show c.2217+154098_2217+155349del		CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr4	TogoVar

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