Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DDX51_chr12_132131594_132149319	132134875	ACGGTGCC others(664): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCC CACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCC CACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACT CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCC CGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCC CACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	329	0.0030	-671	c.37 others(11): Show c.3726_*4396del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1718		chr12	TogoVar
DDX51_chr12_132131594_132149319	132134931	CCCCGAGT others(664): Show CCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTAC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	326	0.0031	-671	c.36 others(11): Show c.3670_*4340del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1662		chr12	TogoVar
DOCK8_chr9_209865_470255	320371	TCAGAGAT others(664): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACG GAAAAAGCCCAGGTTCTGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0044 a0044	a0044c0132 a0044c0132	a0044c0132t0001 a0044c0132t0001	a0044c0132t0001g0066 a0044c0132t0001g0066	1	251	0.0040	-671	c.827 others(17): Show c.827+3365_827+4035del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EZR_chr6_158760748_158824368	158802930	GCGATTCT others(664): Show GCGATTCTCCTGACACCACAGGGAAGCAGGAACTCATTTCCCAGAGAAGC CAGAAGCACTTTAAGGAACTTTTTGAGTAATTTAAATGATGAAAAGTAAC ACTACATGCCACTCACACCTCCTTTTCTAAACTGTTCTCCTTACTACTTC CTCCAGCACCACCATTAGGCTAAACTTAAAATGTCAAGGCTAAATTCTTA ATGTGCAGCAGACGTTAACAGGGCAGAGTATTGACACAGAAGTGGGGGCT GGGAATTTCCTAGTAACTGACTTTTCACGTATCTACATGATGTTACATTT TTATGTTATATAAACGTATGTTTTAAGTAGCCAATCAGAATAGTGATGAA GTATAACTGGTAGAGTGACTCCAAATGAGTACTCGATACGAGGTATACGG TTATCCTCGTCTGATGACCTTTTTTTAATGGTTACAAAAACTGAGACCCT CAACTTCTGGTAATCAGCTACCAAAATATCTGTGTAGCTCTGGCTCTTTA ACATTACTCCTAAAATAGTATCTTTAAATAGATGCCAATGGTTTTATGCT TTTGAAAAGTTTGTATTTACCAACTCCAGGGTAAATATTATGTAACATTA TATATATATATATATGTATATATATATATATATATATATATATATATATA TACATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18906.hp1 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0052 a0001c0001t0013g0053 a0001c0001t0013g0052 a0001c0001t0013g0053	2	310	0.0065	-671	c.13- others(17): Show c.13-14230_13-13560del	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
PLIN3_chr19_4833341_4872667	4863114	GCCACTGC others(664): Show GCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAACAC AAAAACAAAAATAAGTGTATCCCAATGCAGTGGCTAAAGAATGAGATTTA AAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAAC ATGGAGAAACCCCATCTCTACTAAAAATATAAAATTAGCCAGGCATGGTG GCGAATGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAGTTAC TTGAACCCGGGAAGCGGAAGTTGCAGTGAGCCGAGATCGCGCCGCTGCAC TCCAGCCTGGGCAACAGGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAA GAGATTTAAATGTAACTCACATGGGCCAGATGTGGTGGGTCACACCTCTA ATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACCTGAGGTCAGGAG GTGGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATA CAAAAATTAGCCAGGCGTGGTGGTGCACGCCTCCATGTTTAGTTATCCCA GCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAG GTTGCAGTGACCTGGTATTGCA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0316 a0001c0003t0001g0316	1	444	0.0023	-671	c.-17 others(17): Show c.-17-2374_-17-1704del	PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding	1/7			chr19	TogoVar
SDHA_chr5_213320_262082	259951	CCAGAGCA others(664): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCT CCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCA TTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGC CTCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACC GTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCC GCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGT GAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGACA GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGC TCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGC ATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCG CCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTA CCGTGTGAGCTCCGCCTCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	94	0.0106	-671	c.35 others(11): Show c.3532_*4202del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2870		chr5	TogoVar
SIK3_chr11_116838402_117103428	117010053	GAAAAGGG others(664): Show GAAAAGGGTCACATGATCATCAAGGGGACGGTGGGAAGTGGCTTCTTCCT GGGAAGCCCAGTACCCAAAAAGCCTCTCCCAGACAGGCTTCCCCTCTTCC TTATTCACAATGGGCCCTCCTTCATGAAGATGAGAGAGGGAAGGAAAGAA AGGGCAGCAAATTAAGGCTCCAATGCATTCAGAATTTACTCTTTCCCATT CTCCCATTCCAAATACCTATAGCACTTTCAGCATGAGTAATGAAGGTTTT AGAGATTCTTCTCTGCAAAACAATGGGTGGGGTGGGCAGAAAAGTGTGAC TTCCCCAGTCCTGGAATAAAAGCTGTGACAGGTATCCCCCATGTGGAGAG CACCGATAAGCCAGGGAGGACTAGGATGCTGTGTTCTCATGGGTATTGGG GGTGACCAGTACAAGGCCTGCTGAGGGTACTCAAATCTGACTTTCCTTTT TTCTGTGCCTAAACCACCTACATCACCAGGGTTGTGTCAGTTTACTGTGG GACTCTTCTCTGCTGGCTTATCAGGCTGTATGGCCACCATGCTCCCAGTC CCTGCCACCATGGCCTTGGTCCTCTTTAATTTTTCCTTTAAGTATTTAAG TGCTATTTCCTGGGGAGGAAGGTCAAAGTAAATAACCCCACTTCATTAAA ATGACTGAGTCTTAATTAAAGC	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18947.hp1 NA18951.hp2 others(3): Show NA18944.hp1 NA18947.hp1 NA18951.hp2 NA18979.hp1 NA18998.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 others(3): Show a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0019	6	364	0.0165	-671	c.274 others(19): Show c.274-53660_274-52990del	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SLC16A7_chr12_59591029_59794841	59790004	ATACAATG others(664): Show ATACAATGAATTCCTAAGGGCTCAAATGAATTTTTACTGTTGTTTTTCGT GAGTATACATTTTAATAGATTTATACAGAGTAAACAAACGGAGTTCAAAA AGAGAACATTACTGGCATCACAGAAGATCCCCTCAAACCCCTTCCCAGCC TATTCTTGTTCTCTGGACTTTTTGTAAAAATAGACCATTTTTTTTAGAGC AGGTTTATGTTTACAGCAAAATTGAAAGTCCAAGGATTTTCCATACACCC CTTGCCCCAACACATGCATAGCCTCCCTAATTATCAACATGACTCCCCAC CCCGGCCCCTCGAGTGGTAAATTTGTCACAATTGATGAACCTGTATTGAC ACATTGTTACTCAAAGTTCATAGTTTTTACATTAGGGTTCACTTTTGGCA TGGTGCAGTAGTTTCAGTGCACTGGAACTCTGTACGCAAAATAGTCATCC CAATCCCTTAAACCCTGGTAACCACTGATTACTATCTCCATAGTTTCGAC TCTTTTCAACGTTATTTAGTTAGAATCATACTGAATGTAGTCCTTTCACC TGGCTTCTTTCACTTAGGAATATGCATTTAAGTCTCCTCCATGTATTTTC ATGGCTTCAAAGCTTACTCTTTTCTAAAGTTGAGTAATATTCCATTGTCT AGATGTTCCAATCTAGATGTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0195 a0001c0003t0005g0195	1	258	0.0039	-671	c.10 others(13): Show c.10326_*10996del	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding		164		chr12	TogoVar
SPIRE1_chr18_12441512_12663107	12467233	GTGCCACT others(664): Show GTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAA ACAAAAACCAAAAAACCCAAAAAAGGTTTAAATAGTGACCTCCACACTTT TGGGACTTATCATGAACACCAAATCAAGCACTGTAAGCAAAGCCTCTATC CCAGATACGATGTAGGTCAGTCATAGTAATCTCCAAAAAACCTAGCATGC AATTAGAACAATCTTTTTCTGTTTACAGAAGGTCAGACAAGAAATAAAAG CAGAGAGTGTCTCTTAGAAAAGGAACAAAGGAGTCATATACAGTACTTCC CAGATAATTATCTGCTGAGGAGTCATACACAATACTTCCCAAATAATTAT CTGCTACCCTGATTAAAACAGCAGAAACCATCCCTGTGCCTCACACGTGT ACTTCAGCTCACCTTCGCTAGAAATATTTTTAAAGTCGGCTGGGCACAGT GGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCTGGAGCTGGAGACCAGCCTGACCAACATGGAGAAACTCTGTCT CTACTAAAAATACAAAATAAGCTGGGTGTGGTGGCATGTGCCAGTAATCC CAGCTACTCAGGAGGCTGAGGCATGAGAATCACTTGAACCCGGGAGGTGG AGGTTGCGGTGAGCTGAGATCA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	308	0.0032	-671	c.140 others(19): Show c.1405-2946_1405-2276del	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	10/16			chr18	TogoVar
ADARB2_chr10_1172313_1742525	1237058	CCCTCTGC others(663): Show CCCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCC CCCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCT CTCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCT CCCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTAC TCCCATCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC CCCCCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTCACT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0044 a0001c0003t0039g0044	1	106	0.0094	-670	c.136 others(19): Show c.1362-3883_1362-3214del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AP2B1_chr17_35582322_35731413	35584745	ACAAATTT others(663): Show ACAAATTTAACTCCAGATCATTCCTTATCTTCAGACACATATAATCAAGT ACCTCTTGGGTAGAGATCTTCACTCTAACCTAACGTATAAAATGAACTCA TCACCTCCCTATTCTTCCCCAAACTTCTGCCATTTCTTATATTTTCCTAT TTTCAGTGACTAGTACCACCGTTCCTCCCTTGCCCTAACCTAAAACATAA GCCTTATCAGCCCTAGTGTCAGACTTCCTGGGTTCAAATCTTAATTCTAC CTTTGTGTGTGTGTATGTGTGTGTGCGTGTCTGTGTGTGTGACTGCAAGC TCCGCCTTCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAATAGCT GGGACTATAGGCGCCCGCCACCACGCCCTGCTACTTTTTTTTTGTATTTT TAGTAGAGATGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCG TGAGCCACCGCGCCCAGCCATCTTAATTCTACCTTTTAACTTCTCTGTAT CTCTTAAAATAGAGGAAGTAATAGTACCTACTTGGTTATCAGGTGGTGCG GATGTAAAAATGTACTTAGCAGAGTAACTGACATAAAATCATAATAAATA TCAACAGTTATTTGTTTAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0139 a0001c0001t0021g0139	1	370	0.0027	-670	c.-27 others(11): Show c.-2706_-2037del	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding		2576		chr17	TogoVar
DDX51_chr12_132131594_132149319	132134897	CCCGAGTG others(663): Show CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCAC CTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGC CCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACC TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA19070.hp1 NA18986.hp1 NA19070.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0020 a0005c0007t0011 a0005c0007t0020	a0005c0007t0011g0019 a0005c0007t0020g0078 a0005c0007t0011g0019 a0005c0007t0020g0078	2	327	0.0061	-670	c.37 others(11): Show c.3705_*4374del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1696		chr12	TogoVar
FOXQ1_chr6_1307098_1319758	1318872	GACTAGCC others(663): Show GACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATAAAAAA TTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAAC ATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTG GCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCAC CTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTC ACTACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTC AAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAA AATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGG CCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCA ACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCG GTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGAT CACCTGAGTTAGGAAGTTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	1	404	0.0025	-670	c.49 others(11): Show c.4957_*5626del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4115		chr6	TogoVar
GALNT9_chr12_132191372_132334589	132223362	CNNNNNNN others(663): Show CNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNN	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	35	0.0286	-670	c.107 others(21): Show c.1078-20342_1078-19673del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GASK1A_chr3_42974311_43062715	43012249	TCACAGGA others(663): Show TCACAGGAAGGGGCAGTGTGAGGTCACAGGAAGGGGCTGTGTGAAGCCAC TGGAAGTAGCTGTGTGAAGCCACTGGAAGGGGCAGTGTGAAGCCACTGAA TGGGACAGTGTGAAGCCACAGGAAGGGGCTGTGTGATGTCACAAGTAGGG GCAGGGTGAACTTACAGGAAGTGGCTCTGTTAAGCCACAGGAAGGGGCAG TGTGAAGCCACAGGAAGGCACAGTGTGAAGTCACATGAAAGGGGCTGTGT GAAGTCACAGGAAGGGAAGTGGAAAGTCACATGAAGGGGCTATGTGAAGT CACAGGGAAGGGCAGTGTGGAGCCACAGGCAGTGTGAGGCCACAGGAAGG AGCTGTGTGAAGTCACAGGAAGGGAAGTGGAAAGTCACATGAAGGGGATA TGTGAAGTCACAGGGAAGGGCAGTGTGGAGCCACAGGCAGTGTGAGGCCA CAGGAAGGAGCTGTGTGAAGTCACAGGAAGGGAAGTGGAAAGTCACATGA AGGGGCTATGTGAAGTCACAGGGAAGGGCAGTGTGGAGCCACAGGCAGTG TGAGGCCACAGGAAGGAGCTGTGTGTAGCCACAGGAAGGGGCAGTGTGAA GTCACAGGAAGGGGCAATGGGGTCACAGGAAGGGGCTATGTGAAGTCAGA GAAAGGGGGGTTGTGTGAGGC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02615.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02615.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0237 others(3): Show a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0237 a0004c0004t0001g0207 a0004c0004t0001g0269 a0004c0004t0001g0270	6	339	0.0177	-670	c.4-2 others(15): Show c.4-20008_4-19339del	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
HLA-DRB1_chr6_32573775_32594848	32594178	GATTATTT others(663): Show GATTATTTTTCTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAATTC TTGGGTGTTTCTCACAGAGGAGGATTTGGCAGGGTCATGGGACAATAGTG GAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTA GGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGA GATTAGGGAGTGGTGATGACTCTTAACGAGCATACTGCCTTCAAGCATCT GTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTG GACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGATCCCAAG GCAGAGGAATTTTTCTTAGCGCAGAACAAAATGAAAAGTCTCCCATGTCT ACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCC CACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCACTGTCATCCTGGCCC GTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGTCCGGGC AGAGGGGCTCCTCACCTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18955.hp1 NA18962.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(24): Show a0002 a0003 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0002 a0003c0003 a0005c0008 others(26): Show a0002c0002 a0003c0003 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0009c0009 a0009c0028 a0010c0013 a0011c0011 a0012c0012 a0013c0015 a0014c0016 a0015c0014 a0016c0018 a0018c0019 a0019c0020 a0020c0023 a0021c0024 a0023c0022 a0024c0027 a0025c0026 a0026c0031 a0027c0029 a0028c0032 a0029c0034 a0030c0035 a0031c0030 a0032c0033	a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 others(27): Show a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0009c0009t0007 a0009c0028t0007 a0010c0013t0011 a0011c0011t0007 a0012c0012t0003 a0013c0015t0008 a0014c0016t0010 a0014c0016t0012 a0015c0014t0013 a0016c0018t0008 a0018c0019t0003 a0019c0020t0010 a0020c0023t0006 a0021c0024t0010 a0023c0022t0012 a0024c0027t0006 a0025c0026t0006 a0026c0031t0003 a0027c0029t0007 a0028c0032t0003 a0029c0034t0006 a0030c0035t0009 a0031c0030t0011 a0032c0033t0011	a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(58): Show a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 a0002c0002t0005g0058 a0002c0002t0005g0059 a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0005c0008t0006g0016 a0005c0008t0006g0029 a0005c0008t0006g0030 a0005c0008t0006g0049 a0005c0010t0009g0024 a0005c0010t0009g0032 a0005c0010t0009g0052 a0005c0010t0009g0053 a0005c0010t0009g0056 a0006c0005t0002g0007 a0006c0005t0002g0014 a0006c0005t0002g0036 a0006c0005t0002g0040 a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 a0009c0009t0007g0006 a0009c0028t0007g0065 a0010c0013t0011g0020 a0010c0013t0011g0061 a0010c0013t0011g0062 a0011c0011t0007g0009 a0012c0012t0003g0010 a0012c0012t0003g0057 a0013c0015t0008g0012 a0014c0016t0010g0060 a0014c0016t0012g0018 a0015c0014t0013g0013 a0016c0018t0008g0027 a0016c0018t0008g0038 a0016c0018t0008g0039 a0018c0019t0003g0022 a0018c0019t0003g0047 a0019c0020t0010g0019 a0020c0023t0006g0034 a0020c0023t0006g0054 a0021c0024t0010g0025 a0023c0022t0012g0026 a0023c0022t0012g0037 a0024c0027t0006g0031 a0025c0026t0006g0033 a0026c0031t0003g0045 a0027c0029t0007g0066 a0028c0032t0003g0055 a0029c0034t0006g0050 a0030c0035t0009g0051 a0031c0030t0011g0064 a0032c0033t0011g0063	152	208	0.7308	-670	c.-51 others(11): Show c.-5106_-4437del	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding		4331		chr6	TogoVar
OTUD7A_chr15_31470398_31875673	31510838	TATGTATA others(663): Show TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATA TCTATATGTAACATATATGTATATCTATATGTAACATATGTATATCTATA TGTAACATATGTATATCTATATGTAACATACATGTATATCTATATGTAAC ATACATGTATATCTATATGTAACATACATATATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACACACATATGTATATCTATATGTAACACACATACATATGTATATCTATA TGTAACACACATACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATA TATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAA CACATATATATGTATATCTATATGTAACACACACATATATGTATATCTAT ATGTAACACACACATATATGTATATCTATATGTAACACACACATATATGT ATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0075 a0005c0020t0075	a0005c0020t0075g0054 a0005c0020t0075g0054	1	235	0.0043	-670	c.894 others(17): Show c.894-7690_894-7021del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RPH3AL_chr17_207389_357807	254825	TACGTACT others(663): Show TACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCC TAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGT CTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGA GGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACC CTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCC CTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCG TCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATG AGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTAC CCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATC CCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGC GTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTAT GAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTA CCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCAT CCCTAGGAATGTGACTACCCA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	125	0.0080	-670	c.439 others(17): Show c.439-8210_439-7541del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257215	ATCCCTAG others(663): Show ATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCA CGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTT CCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGC ACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTT CCTATGAGGGGAGCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAATGT GACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGT TCTGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCG CACGGTGTCTGTCCTGTTCTG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03017.hp2 NA18951.hp2 others(1): Show HG01978.hp1 HG03017.hp2 NA18951.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0024	a0001c0001t0001g0124 a0001c0001t0002g0028 a0001c0001t0004g0087 others(1): Show a0001c0001t0001g0124 a0001c0001t0002g0028 a0001c0001t0004g0087 a0001c0001t0024g0082	4	103	0.0388	-670	c.439 others(18): Show c.439-10600_439-9931del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257293	CGTGACTA others(663): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGT CCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAG GAATGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTA TCCTTTTCCATCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00408.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0110 a0001c0004t0001g0048 a0001c0001t0001g0110 a0001c0004t0001g0048	2	88	0.0227	-670	c.439 others(19): Show c.439-10678_439-10009del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SLC35G4_chr18_11604596_11615612	11613387	TAGGTGAG others(663): Show TAGGTGAGGAGCACCTCTGCCCGGCCGCCACCCCATCTAGGAAGTGAGGA GCGTCTCTGCCTGGCCGCCCATTGTCTGGGAGGTGAGGAGCGCCTCTGCC TGGCCGCCACCCCATCTGGGAGGTGAGGAGCGCCTCTGCCCAGCCGCCAC CCTGTCTGGGAGGTGAGGAGCGCCTCTGCCCGGCCGCCCATCGTCTGGGA GGTGAGGAGCGCCTCTGCCCGGCCACCCATCATCTGGTAGGTGAGGAGCG CCTCTGCCTGGCCGCCACCCCATCTAGGAAGTGAGGAGCGTCTCTGCCTG GCCGCCCATCGTCTGGGAGGTGAGGAGCACCTCTGCGAGGCCGCCACCCC ATCTGGGAGGTGAGGAGTGCCTCTGCCCGGCCGCCACCCTGTCTGGGAGG TGAGGAGCGCCTCTGCCTGGCCGCCCATCATCTGGGAGGTGAGGAGCACC TCTGCCCGGCCACCCATCGTCTGGTAGGTGAGGAGCGCCTCTGCCCGGCC GCCACCCCATCTAGGAAGTGAGGAGCGTCTCTGCCTGGCTGCCCATCGTC TGGGAGGTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGATGTGAGGA GCGCCTCTGCCCAGCCGCCACCCCGTCTGGGAGGTGACGAGCGCCTCTGC CGGGCCGCCACCCCGTCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02809.hp1 others(2): Show HG01243.hp2 HG02055.hp1 HG02809.hp1 HG02809.hp2 HG03486.hp1	a0003 a0015 a0003 a0015	a0003c0003 a0015c0018 a0003c0003 a0015c0018	a0003c0003t0001 a0015c0018t0001 a0003c0003t0001 a0015c0018t0001	a0003c0003t0001g0000 a0015c0018t0001g0000 a0003c0003t0001g0000 a0015c0018t0001g0000	5	442	0.0113	-670	c.27 others(11): Show c.2776_*3445del	SLC35G4	ENSG00000236396.8	transcript	ENST00000588001.2	protein_coding		2776		chr18	TogoVar
GAL3ST2_chr2_241771822_241809287	241805672	CTCCCCCC others(662): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG01257.hp2 HG00741.hp1 HG01243.hp2 HG01257.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0156 a0002c0002t0002g0109 a0002c0002t0002g0122 a0001c0001t0002g0156 a0002c0002t0002g0109 a0002c0002t0002g0122	3	295	0.0102	-669	c.15 others(11): Show c.1507_*2175del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1386		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132231396	TCCCTAGT others(662): Show TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCC TACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTC GATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGA TGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0008	1	159	0.0063	-669	c.107 others(21): Show c.1077+15845_1077+16513del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
NEU4_chr2_241804193_241822413	241805638	TCCCCCCT others(662): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGG GACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	286	0.0035	-669	c.-36 others(11): Show c.-3639_-2971del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3554		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805672	CTCCCCCC others(662): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01257.hp1 HG00741.hp2 HG01243.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0003g0011 a0001c0001t0003g0080 a0001c0001t0001g0017 a0001c0001t0003g0011 a0001c0001t0003g0080	3	298	0.0101	-669	c.-36 others(11): Show c.-3605_-2937del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3520		chr2	TogoVar
TENM1_chrX_124370903_125209312	125100329	ATTGTGGA others(662): Show ATTGTGGAATTGGTGGAGTGAGGCAGAGCCACAAGTGGTTTATGTAGTGT CTACCTAAAATGGACGATACAAAAGAAAAATCAAAGAAGCTCAGCTTCTG GCTTAAAGCCATAGAAGCAAGGAAAGTTGTAGTTAAGGATCAAAGCTCCA ATATCTAGTCATAATGTATTTCTAGTCTTAAAATTTCACAATACCATTGG GTGCCTTAATGTTGTACTACCCAATTTGATCGGTACATGAGATGCAGAGT CTGACTATACCAAAAATATATAATACTTATAAATGAAAATGTACATGTTC TGGTCACTATTCTGCACAGCTAAAACTACGTTTTTGTTTGCTTGCTTTCG TTCTTAAAAGTCTAGCAGTTAGCATTATGTGTTTTGAGTGAATATGTTGA GTGAATATGTTGTTTCTTATAGGATGATGTTTTTCCCCTCCTTCTCCTCC TGATTTTGTAAAGTAGAAATGCTACTTATACACCACTTTTTTAACCAAAA TACTATAATATAAATTCAACTAAGTTTCATCTTCAAAGCAACCTTATTGT TTAACTGTGACTCACAGATAAGGAAATTAAGATTGACCTGTTGGCCCAAA ATGGTAGCACATAGCTAGCTGGTGGCAGAGGCAACATAAGAACTCACTAT ACAAGACTCTGTCACTGTAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0056	1	138	0.0072	-669	c.-65 others(19): Show c.-65+83710_-65+84378del	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	3/34			chrX	TogoVar
ATP10A_chr15_25673712_25868327	25758096	CCACCTGC others(661): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03491.hp2 HG02818.hp2 HG03491.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0012 a0002c0002 a0012c0012	a0002c0002t0001 a0012c0012t0001 a0002c0002t0001 a0012c0012t0001	a0002c0002t0001g0209 a0012c0012t0001g0018 a0002c0002t0001g0209 a0012c0012t0001g0018	2	256	0.0078	-668	c.654 others(19): Show c.654+22255_655-21956del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
CCDC77_chr12_396644_447642	421232	ATACACAC others(661): Show ATACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTT CCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAC ACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACAC ATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAT	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0100 a0002c0002t0002g0100	1	408	0.0025	-668	c.413 others(17): Show c.413+2597_413+3264del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
DENND1A_chr9_123374658_123935126	123854736	AATGAAGC others(661): Show AATGAAGCAACTGATTTAATCAATTTAAGCAAATGGTTACCAGTTCACAT GAAGTTTCTCTCTCCTCTTCTGTCTCTTGGTCGAATATATCTTCATCTTA TCAGCTACCGAGATAGTACCAGACATTGCCACAACCTACTGCATGCAAAG TGGTAATAAATGCAGTGGAAGGGAAATAGAAGATAATGAACCGATCCTTC ATATACTCTAAATCTCTTTTCTACCTTGCTAAGAAAAACAAGATAAGTCC CTGGAGATACTCTAGAAGTAAATGTAACCATAGGTAAAACTCCACTCTAA AAAACACAATTATAATGTCCAGTTCTATGTAAATGGAGCTATTTCAAAAG CCTCACAAACAACTGATACTAACATTGCCTTGCTTATTTGGACATAACAA ATTCCACTGAATGAGATATTTTTAAATATCTCTTCATTTAGCTAGCTACC TACTGAATACGATTATTCTTCAAGGGAGAATTCAAGCAAGAAGGTTCCTG CCCTCAAGAAAAACAGAAAAGACAATTATAATACGATATGCAGGGTGCCA AGAGGGAGGGTATCTAACCAAGTCTGTGAAGGATGGCAGAGAGGGGGAAG CAAGGGTAGACAGAAAAAAATGGAGGATTAGAGAAGGCCTCCTAAAAGAG GTGGCACCTTGTCTAAGTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0084 a0001c0001t0008g0084	1	160	0.0063	-668	c.88+ others(17): Show c.88+23547_88+24214del	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	2/23			chr9	TogoVar
KCNG2_chr18_79792938_79905100	79886297	GGACAGGG others(661): Show GGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGG GGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGG GACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGG GGACAGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGG GACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGG ACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAA CATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGG ATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACAAGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACAGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGA CACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGAC ATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGA CAGGGACATGGGGACACAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18952.hp1 HG00558.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0267 a0001c0001t0001g0016 a0001c0001t0001g0267	2	310	0.0065	-668	c.625 others(19): Show c.625-12703_625-12036del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LINGO2_chr9_27932617_29218601	29173931	CATTCTTT others(661): Show CATTCTTTCAAGAATATTTTTCCCTTCAATGCATGTGTGTTTTACTGTGT CAAGGAATTAGAATTGAAAACAAATATACAAAGGATTTACCATGTTGTTT ATAAAAAACTATTAAACAGAATAGAGCATCAATTTTACATTTCTGAGATA ACAGATAAAACTTCAAAATGAGGTTATGCTTTGTCTAAAAAAAAAAAATT AATGTAAAAAGATACTCGCTTTCCTGGTTTTGAGCAAGCATTTGAAATTG AAGATGATGATCTATCTCACACTATATTTTTGAAGTTTCACATTATTTGA AATAAAACTGTATGCCATGTGTTTTCATTTTCTCCCTGGGTCTCATCGTT TATACTCCCTAAGGCACAGATGATAAATAAGAAGTAAGTTTTACCAGCTG GCATCCTTCATGTGGACCATATTGTGAAAAAGTGAAATCAAATTCTCTTG AACTGAGGAACAGAGTAAAATATACTTGGTCTGACTGTTCTCAAACCTTC ATGTTATGTCTATAGAAAAATATATAACTCTATGAATAGCATTTCATGCT ACGTCCTAGGACTAGACAGATTTTTTGAAAACTACTTAACAGAAATTTCA ATTGAAGACTTTCAACTAAGCTTTTGAAAATACATAATCTTAAATGCAGT CACATGAAATTTCCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	62	0.0161	-668	c.-49 others(21): Show c.-492+38323_-492+38990del	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6			chr9	TogoVar
SCHIP1_chr3_159268244_159902359	159539232	TGGATCAA others(661): Show TGGATCAATTTTCAAAGAACTTAGGGTTATAATTTTTTATTTATAACAAT CTTTGATTCAAATGGGATTTAGATTCACACAAAGATGCATGCAAGAGAGC ATAAATATTGGAACAAAAGTAAATCTGAAAAACAAGGAAAAAAGAAGAGA AAACAATATGTATGTCATAATTAATTTAGTATATCAAAGTTTAATAACCT CGAATGGACTTGAGATGGAGTTAAGGAATAGGTGGGGAGTGAGGCAAGGG ATGAGCAAGGAACCGCTGGATGTTAGTGCAAAATGCTGTGGGTATGCTTG ACCCACATATTTCTGTCCCTTCCCCCTTCATGAATCTTCACCACAATGGC AGATCCTTGAGGCTAGATATACAGTCCTCGTGTATCTGTGGAATATCTAT ACTATGTCCTGGACCACGTGAGCATGACTCAGTAATGATCTCACAATAGG ACGTCACTCTCCATTTTGACGGTATCTACTGTATCTACCTCCTTTGTACA TTATTTTCTCCTCTGAGTGCTTTCCCCCCATTTTAAGCTAATAAAACAAA CATGCACACTATTACAGCACTTATACTGCACCAGATAGGAAAACAAATAT GTATCTATTTTGGCTAAAAATCTTACATTGAGAACTATGGACACTAAAGA AATAAAGAGATGATTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01167.hp1 HG01169.hp1 others(23): Show HG00438.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp1 HG02486.hp2 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03654.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA19007.hp2 NA19043.hp1 NA19058.hp2 NA20129.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0004g0059 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0051 a0001c0002t0001g0076 a0001c0002t0001g0082 a0001c0002t0001g0092 a0001c0002t0003g0083 a0002c0003t0001g0034	26	100	0.2600	-668	c.64- others(19): Show c.64-225210_64-224543del	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7			chr3	TogoVar
ANK2_chr4_113044653_113388736	113262682	AAGTACAG others(660): Show AAGTACAGTATAACAACTATATAGCATTTACATTGTGTTAGGTATTATAA GTAATATAGAGCTGAATTATACAGGATTATGTGCATAGGTTACTTGCAAA TACTACACCATTTTATATAAAGGACTTGAGCATCCATGTATTTTGGTATT GGTGGGGGAAACAGGAGGCCTGGGACCAATCCCTCACCAATACAGAGGGA CAACTGTAGTTAGAAGATTTTAGCCTTGCCGGGCACGGTGGCTCACACCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTAGGTCAGGA GTTCAAGACCAGCTTGACCAACATGATGAAACCCCATCTCTACTAAAATT ACAAAAATTAGCTGGGCATGGTGGCGGGCACCTATAATCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATCTATTGAACCCGGGAGGCTGAGGCTGCAGT GAGCCGAGATCATGCCACTGCACTCCAGCCTGGGAAACAGAGCAAGACTC TGTCTGAAAAAAAAAAAAAAAAAAAAAGAAGATCTTAGCCTCATCTATTT AGAGACAGGTTTTAAATGATATGGAAAACAAGTTAGAAATCATGATTGTC TGTCCAGGGAGGAAAAATCTTGTGATACATCTAAAGTCTGAAGATAAATA TTAGCATTCCAATGATAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 HG01884.hp2 HG03453.hp1	a0002 a0003 a0002 a0003	a0002c0035 a0003c0034 a0002c0035 a0003c0034	a0002c0035t0001 a0003c0034t0001 a0002c0035t0001 a0003c0034t0001	a0002c0035t0001g0169 a0003c0034t0001g0056 a0002c0035t0001g0169 a0003c0034t0001g0056	2	176	0.0114	-667	c.138 others(19): Show c.1387-2213_1387-1547del	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	13/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132134686	CCCGAGTG others(660): Show CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGC TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAG TATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC CCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0004 a0002c0022t0004	a0002c0022t0004g0035 a0002c0022t0004g0035	1	320	0.0031	-667	c.39 others(11): Show c.3919_*4585del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1907		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135271	CACTCCTC others(660): Show CACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGT GCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTG CCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCG AGTGTGCCCCGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0027 a0001c0020t0027	a0001c0020t0027g0065 a0001c0020t0027g0065	1	287	0.0035	-667	c.33 others(11): Show c.3334_*4000del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1322		chr12	TogoVar
DENND1A_chr9_123374658_123935126	123854737	ATGAAGCA others(660): Show ATGAAGCAACTGATTTAATCAATTTAAGCAAATGGTTACCAGTTCACATG AAGTTTCTCTCTCCTCTTCTGTCTCTTGGTCGAATATATCTTCATCTTAT CAGCTACCGAGATAGTACCAGACATTGCCACAACCTACTGCATGCAAAGT GGTAATAAATGCAGTGGAAGGGAAATAGAAGATAATGAACCGATCCTTCA TATACTCTAAATCTCTTTTCTACCTTGCTAAGAAAAACAAGATAAGTCCC TGGAGATACTCTAGAAGTAAATGTAACCATAGGTAAAACTCCACTCTAAA AAACACAATTATAATGTCCAGTTCTATGTAAATGGAGCTATTTCAAAAGC CTCACAAACAACTGATACTAACATTGCCTTGCTTATTTGGACATAACAAA TTCCACTGAATGAGATATTTTTAAATATCTCTTCATTTAGCTAGCTACCT ACTGAATACGATTATTCTTCAAGGGAGAATTCAAGCAAGAAGGTTCCTGC CCTCAAGAAAAACAGAAAAGACAATTATAATACGATATGCAGGGTGCCAA GAGGGAGGGTATCTAACCAAGTCTGTGAAGGATGGCAGAGAGGGGGAAGC AAGGGTAGACAGAAAAAAATGGAGGATTAGAGAAGGCCTCCTAAAAGAGG TGGCACCTTGTCTAAGTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0085 a0001c0001t0008g0083 a0001c0001t0001g0085 a0001c0001t0008g0083	2	160	0.0125	-667	c.88+ others(17): Show c.88+23547_88+24213del	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	2/23			chr9	TogoVar
DNAH7_chr2_195732703_196073837	196043565	GACCTAAT others(660): Show GACCTAATTAAACTAAAAAGCTCCTGCACAGCAAAAGAAGTAATCAGCAG AGAAAACAGACAACCCAGAGTGGGAGAATAAATTCGCAAACTATGCATCT GACAGAGGACTAATACCCAGAATCTATAAGGAACTCAAAAAATCAGGAAG AAAAAAAATCCCATCAAAAGTGGGCTAAGGACATGAATAGACAATTTTCA AAAGAAGATATGCAAATGGCCAGAAAGCATATGAAAAAATACTCAACATC CCTAATTATTGGGGAAATGCAAATCGAAACCACAATGCAATACCACTTTA CTCCTGCAAGAATGGCCATAATTTAAAAATCAAAAAATAATAGATGTTGG CGTGGATGTGTTGAAAAGGGAACACTTTTACACTGCTAGTGGGAATGTAA ACTACTACGACTACTATAGAAAACAGTATGGAGATTCCTTAAAGAACTAA AGATAGAACTATCATTCGATGAAGCAATCCCATTACTCAGTATCTACCCA GAGGAAAATAAGTCATTATATAAAAAAGACACTTGCACACACGTTTATAG CAGCAAAATTCACAATTGTAAAAATATGGAACCAGCCTAAATGCTCATCA ATCAATGAGTGGATAAAAAAATGTTTATATATATATATATGTGTGTGTGT GTGTGTGTGTGTATACAT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18522.hp1 HG02970.hp1 NA18522.hp1	a0036 a0044 a0036 a0044	a0036c0067 a0044c0065 a0036c0067 a0044c0065	a0036c0067t0001 a0044c0065t0001 a0036c0067t0001 a0044c0065t0001	a0036c0067t0001g0092 a0044c0065t0001g0093 a0036c0067t0001g0092 a0044c0065t0001g0093	2	254	0.0079	-667	c.398 others(17): Show c.398+3120_398+3786del	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	5/64			chr2	TogoVar
EIF3H_chr8_116637130_116760823	116679398	GGGAGGGA others(660): Show GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGAAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCC CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGTCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCCCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGTC GGCCAGCCGCCCTGTCCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0159 a0001c0001t0018g0159	1	332	0.0030	-667	c.290 others(19): Show c.290-21085_290-20419del	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116679446	CGGGAGGT others(660): Show CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGAAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGTCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCCCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGG TCGGCCAGCCGCCCTGTCCAGGAGGGAGGTGGGGGGATCAGCCCCCCGCC TGGCCAGCCGCCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02559.hp2 others(2): Show HG01243.hp2 HG02055.hp1 HG02559.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0009g0156 others(2): Show a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0001t0009g0157 a0001c0001t0009g0158	5	333	0.0150	-667	c.290 others(19): Show c.290-21133_290-20467del	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
FRMD4A_chr10_13638706_14335924	14199762	TAATCTTT others(660): Show TAATCTTTCATTCTTTTTTATATTGATGTGAATAAAAGACATTAATTTTG ACATAATATGTACTTTATTATTTCCTCTACCTTTAAGAAAGACATGAATA ATTTTAAAAATTTTACTAAAATTTTAAAAATTATGTTTTTGTTGGCAAAT AATCATATATTATATATTTATGGGGCACATGTGATATTTTGGTATATGTT TACATTGTGGAATGATTACATCAAGCTTAACACATCCATCACCTTGCTTA TTTATTAATTTGTTTTGTTTTTTTTTTTTTGGAGACAGGGTCTTGCTGTT GCCCAGGCTGGAGTGCAGTGCAGTGGTGCAATCACAGCTCACTACAGCCA TGAGCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCTTCCCGCAGTGTTG GGATTACACGCATGAGCCACTGTGCCAGGCCTTATATTTTTGTGTTGAAA ATATTTAAAATCTACTCTGACACAACTTTTACTGATGGGGATGGACTCAG GGTTGGAAGATTAGCACCTGATAGTTTAATATAATTTCTTATTTTTTTGA GACAGACTCTCACTCTGTCACACCCAGGCTGGAGTGCAGTGGTGCAATCT CAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCCCACCTCT GTCTCCAGAGTAGCTGGG	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19007.hp2 NA19009.hp1 others(1): Show NA18971.hp1 NA19007.hp2 NA19009.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0009 a0001c0001t0003g0114 a0001c0001t0007g0015 others(1): Show a0001c0001t0001g0009 a0001c0001t0003g0114 a0001c0001t0007g0015 a0001c0001t0007g0107	4	134	0.0299	-667	c.45+ others(19): Show c.45+129629_45+130295del	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
RNF213_chr17_80255852_80403794	80315102	ATGGTGGT others(660): Show ATGGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGT GATGGTGGAGGTAATGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAA TGGAGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTG GACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGT AATGGAGGTGATGGTGGTGGTGGTGATGGTGGAGGTACTAGAGGTGATGG CGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTG GTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGT GGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGG TGGTGGAGGTACTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTC GTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGT ACTGGAGGTGATGGTGGTCCGTGGAGGTGATGGTGGTGGTGGTAATGGAG GTGATGGTGGTGGTACTGGAGGTGATGGTGGTGGTGAAGGTGATGGTAGA GGTAATGGAAGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGG AGGTGACAGTGGTGATGC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03225.hp1 HG03579.hp2 others(1): Show HG01243.hp2 HG03225.hp1 HG03579.hp2 NA19030.hp1	a0016 a0096 a0016 a0096	a0016c0018 a0096c0097 a0016c0018 a0096c0097	a0016c0018t0021 a0016c0018t0048 a0096c0097t0021 a0016c0018t0021 a0016c0018t0048 a0096c0097t0021	a0016c0018t0021g0025 a0016c0018t0021g0085 a0016c0018t0048g0024 others(1): Show a0016c0018t0021g0025 a0016c0018t0021g0085 a0016c0018t0048g0024 a0096c0097t0021g0027	4	242	0.0165	-667	c.281 others(19): Show c.2811+1943_2812-1412del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(660): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG GTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0112 a0001c0001t0075g0112	1	262	0.0038	-667	c.970 others(19): Show c.970-21767_970-21101del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
STRC_chr15_43594563_43623800	43623133	AAATTATA others(660): Show AAATTATACTGGAAAAGCTTCATTCACTACCGGGCGTAGTGGCTCATGCC TGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCA GAAGTTCGAGACCAGCCTGGCCAACCTGGTGAAACTCTGTCTCTACTAAA AACACAAAAATTGGCTGGGCGTGGTAGCGGGCACCTGTAATCCCAGCTAC TCAGGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCAGATGTTGC AGTGAGCCGAGATTGCGCCATTGCACTCTAGCCTAGGTGACAGAGGGAGA CTCTGTCTCAAAAAAAAAAAAAAAAAGCTTCATTCAAGCATGAGGCACAG TGCTGTTGGCCATGAGTTCAATGTTAATCAATCAACAACATATATTAAGT AAGGTGTCTATAAACAGAAACACAAAGAAAACCAAGGTTATGTATTTGAT CAGTTGATGAAAATGTTGTCACCAGAGGCTCACAGGAACCTAACCCTGTA TTTCCCCTGGGAGCAGTGGTTCAGTAGTCACTAATTCAGTTGTTTGCTGC ACCTTTATAAAACATAATCATCATAAATAATAAAAATTTACTGTAGCTGC CTTGAACAGTTACCCAACCAGTATTGAAACCTTCATGAGTGAGTAATATG TCTTTCTTATACTAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03688.hp2 HG04115.hp2 HG02738.hp2 HG03688.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0001 a0002c0015t0001 a0002c0002t0001 a0002c0015t0001	a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0015t0001g0070 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0015t0001g0070	3	372	0.0081	-667	c.-50 others(11): Show c.-5078_-4412del	STRC	ENSG00000242866.10	transcript	ENST00000450892.7	protein_coding		4334		chr15	TogoVar
ARHGAP8_chr22_44747575_44867784	44856553	CGTGAGCC others(659): Show CGTGAGCCACCGCGCCCGGCCTGTAAATTCTTGGGGCTACATCCTGACCA TTGGCTGTTCCCCCAGGCATTTGGAAGCCAAACTGGCCATAAAGGCAAGT TCTCAGGACACAAAACAAGACGAAAGGAGAATCGTATCCCATGATTCTCC TCTTCACAACAAAGGACCCAAGAGACAGAGACAAAGGCAAACAGTGACTC TTCCTGGGAGGCTGAAGATCACCGAGGACTCCTCGAGATCAGATGCGCTG AAGTCAAAACCAAAGAACCCATTCTTCCGAATGTGGCTCTGCTGGTCCAA ATTCAGAAAGGAAGAAAACAAAGAGACTTTGACCACCCTCACACAGTCGC GCTGCAGACAGAAATCTGGGAGGCTGACTTGAGTAAGAATTCTTTTTTTT TTTTTGAGACGGAGTTTTGCTCTTGTCGCAAAGGCTGGAGTGCAATGGTG CAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAATGACTCTGTT GCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACACCCG GCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTGCATGTTGGTCAGGC TGGTCTCAAACTCCTGACCTCAGGTGATTCACCCACCTCGGCCTCTGAAA GTGCTGGTATTATAGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00558.hp1 others(49): Show HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00673.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01516.hp1 HG01891.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03710.hp2 HG06807.hp1 NA18906.hp2 NA18948.hp1 NA18950.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18992.hp2 NA19004.hp1 NA19030.hp1 NA19068.hp1 NA20129.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0006 a0009 a0020 a0022 a0027 a0029	a0001c0001 a0001c0004 a0002c0003 others(19): Show a0001c0001 a0001c0004 a0002c0003 a0002c0006 a0002c0011 a0002c0013 a0002c0019 a0002c0020 a0002c0023 a0002c0057 a0002c0064 a0002c0068 a0004c0012 a0004c0017 a0004c0058 a0006c0014 a0006c0033 a0009c0026 a0020c0075 a0022c0061 a0027c0053 a0029c0059	a0001c0001t0009 a0001c0001t0010 a0001c0004t0010 others(21): Show a0001c0001t0009 a0001c0001t0010 a0001c0004t0010 a0002c0003t0001 a0002c0006t0001 a0002c0011t0005 a0002c0013t0005 a0002c0019t0008 a0002c0020t0005 a0002c0023t0005 a0002c0057t0005 a0002c0064t0005 a0002c0068t0008 a0004c0012t0002 a0004c0012t0015 a0004c0017t0002 a0004c0058t0002 a0006c0014t0005 a0006c0033t0005 a0009c0026t0005 a0020c0075t0005 a0022c0061t0002 a0027c0053t0002 a0029c0059t0005	a0001c0001t0009g0173 a0001c0001t0009g0321 a0001c0001t0010g0198 others(49): Show a0001c0001t0009g0173 a0001c0001t0009g0321 a0001c0001t0010g0198 a0001c0004t0010g0302 a0002c0003t0001g0106 a0002c0003t0001g0387 a0002c0006t0001g0059 a0002c0006t0001g0203 a0002c0006t0001g0386 a0002c0011t0005g0016 a0002c0011t0005g0086 a0002c0011t0005g0284 a0002c0011t0005g0319 a0002c0011t0005g0333 a0002c0013t0005g0043 a0002c0013t0005g0185 a0002c0013t0005g0364 a0002c0019t0008g0040 a0002c0019t0008g0046 a0002c0019t0008g0313 a0002c0020t0005g0047 a0002c0020t0005g0355 a0002c0023t0005g0039 a0002c0023t0005g0071 a0002c0023t0005g0072 a0002c0057t0005g0381 a0002c0064t0005g0067 a0002c0068t0008g0044 a0004c0012t0002g0172 a0004c0012t0002g0233 a0004c0012t0002g0245 a0004c0012t0002g0297 a0004c0012t0002g0328 a0004c0012t0015g0218 a0004c0017t0002g0025 a0004c0017t0002g0130 a0004c0017t0002g0183 a0004c0017t0002g0259 a0004c0058t0002g0148 a0006c0014t0005g0022 a0006c0014t0005g0152 a0006c0014t0005g0265 a0006c0014t0005g0287 a0006c0033t0005g0267 a0006c0033t0005g0336 a0009c0026t0005g0019 a0009c0026t0005g0066 a0009c0026t0005g0262 a0020c0075t0005g0065 a0022c0061t0002g0015 a0027c0053t0002g0307 a0029c0059t0005g0013	52	388	0.1340	-666	c.878 others(17): Show c.878-3167_878-2502del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
BPHL_chr6_3113711_3158578	3146201	TGGAGTGC others(659): Show TGGAGTGCTGGTGTGGGTTGGAGTGCTGGTTCTGGTTGGAGTGCTGATTC GGGTCGGAGTGCTGGTTCGGGTCGGAGTGCTGGTTCGGGTCGAGTGCTGG TTCGGGTTGGAGTGCTGGTTCGGGTCAGAGTGCTGGTTCGGGGTGGAGTG CTGGTGTGGGTTGGAGTGCTGGTTCCAGTTGAGTGCTGATTTGGGTCGGA GTGCTGGTTTGGGTTGAGTGCTGGTTTGGGTCGGAGTGCTGGTTTGGGTC GGAGTGCTGGTTCGGGTTGGAGTGCTGGTTCCAGCTGGAGTGCTGGTTTG GGGTGGAGTGCTGGTGTGGGTCGGAGTGCTGGTTTGGGTCGAGTGCTGGT TTGGGTCGGGAGTGCTGGTTCGGGGTGGAGTACTGGTTTGGGTTCGGGGT GGAGTGCTGGTTCAGGGTGGAGTGCTGGTTCGGGTCGGAGTGCTGGTTCG GGGTGGAGTGCTGGTGTGGTTTGGAGTGCTGGTTCCAGTTGAGTGCTGAT TTGGGTCGGAGTGCTGGTTTGGGTTGAGTGCTGGTTTGGGTCGGAGTGCT GGTTTGGGTCAGAGTGCTGGTTTGGGTCGAGTGCTGGTTTGGGTCGGAGT GCTGGTTCGGGTTGGAGTGCTGGTTCCGGCTGGAGTGCTGGTTTGGGTCG GAGTGCTGGTTTGGGTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 NA19240.hp2 HG00639.hp2 HG02809.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0197 a0001c0001t0004g0036 a0001c0001t0004g0197	3	348	0.0086	-666	c.788 others(17): Show c.788+5704_789-5610del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(659): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG02886.hp2 others(4): Show HG02559.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 NA20129.hp2 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0004 a0002c0010 a0002c0001 a0002c0004 a0002c0010	a0002c0001t0002 a0002c0004t0005 a0002c0004t0007 others(2): Show a0002c0001t0002 a0002c0004t0005 a0002c0004t0007 a0002c0010t0005 a0002c0010t0012	a0002c0001t0002g0192 a0002c0004t0005g0191 a0002c0004t0007g0171 others(4): Show a0002c0001t0002g0192 a0002c0004t0005g0191 a0002c0004t0007g0171 a0002c0010t0005g0243 a0002c0010t0012g0209 a0002c0010t0012g0215 a0002c0010t0012g0234	7	137	0.0511	-666	c.226 others(19): Show c.2268-4071_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNN2_chr19_1021608_1044065	1034406	GACCGGGA others(659): Show GACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGC GTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACG GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTGTCT GGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTAT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	388	0.0026	-666	c.391 others(17): Show c.391-1667_391-1002del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CWF19L1_chr10_100227298_100272638	100242692	ATTTCATA others(659): Show ATTTCATAAGGCTCTAGTTTCTGAATCTGAAGCTATAAAAAGAATATCAA CATTTTTAACCCAATACAGGTATATAAGCAACAGAAGACTGCCTTTTTAG GACAAAGAAAATCACTTTAAATGGTAATTAGCAAAAGGAACTCATCACTC TCAATTAGACGGGCTAAAAAATACAGAGAGTCCAAGAAGTATATAAAAGC ATCACCCCTAGAGAACCATACCTATTTATGAGAGAGGAAAAGAGAGCTAT CTTGTAAAACTGGCTATTGCTATAACAAATGTTGACAGGGATGTGGAAAA GCAGAAACCTTCATACACTGCTGGTGGGAATATAAGATGGTGCAGTCATT TTGGAAAACAGTTTAGCAGTTTCTTAAAAGTTAAACATAAATTTACTATA TAACCTAGCAAATCCATTCCTAGGTCTATCCAAAATATAGACCATTCCTA GGTCTATATCCACACAAAGACTTGCATGCAGATATTTTATGGGAGCATTA TTTCTAATAGCCATAAAGTAGAAACAACCCAAACGTCCATCAGCTGATGA ACAGATATAGACGAAATGTGGTACATCTATACACTGGAATATGATTTGGC AATAAAAAGGAATGAAATACTGATACATGCTGCAACATGGATGAACCTCA AGAATATTATGCTAAGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	362	0.0028	-666	c.104 others(18): Show c.1044+340_1044+1005del	CWF19L1	ENSG00000095485.18	transcript	ENST00000354105.10	protein_coding	10/13			chr10	TogoVar
DDX51_chr12_132131594_132149319	132135674	CCCCGAGT others(659): Show CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTG CCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGG TGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGT GCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0010 a0008c0010t0010	a0008c0010t0010g0014 a0008c0010t0010g0014	1	326	0.0031	-666	c.29 others(11): Show c.2932_*3597del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		919		chr12	TogoVar
EPS8L1_chr19_55070869_55092923	55078283	AGAGGGGC others(659): Show AGAGGGGCTGGGGGGCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGAGTCAGAGGGAAGAGGTGCTGGGGGCCTGGACTCCTG GGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAG AGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGG CTGGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGG TCAGAGGGAAGAGGGGCTGGGGGGCTGGACTCCTGGGTCAGAGGGAAGAG GGGCTGGGGGTCTGGACTCCTGAGTCAGAGGGAAGAGGGGCTGGGGGGCT GGACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTC AGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGG GCTGGGGGTCTGGACTCCTGGGTCAGAGGGAGGAGGGGCTGGGGGGCTGG ACTCCTGGGTCAGAGGGAAGAGGGGCTGGGGGCCTGGACTCCTGGGTTTG AGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCAGAGGGAAGAGGGGC TGGGGGGCTGGACTCCTAGGTTTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCCTGGGTCTGATGGAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	315	0.0032	-666	c.58+ others(12): Show c.58+167_59-39del	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar

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