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
B3GNTL1_chr17_82937149_83056770	83003919	CTCCGCGT others(625): Show CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCG TGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCATGTGGGATTCCTGA GCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCAC TCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGC GTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGG ATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGC CCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCG CCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCG CGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCCT GAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCG CCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCT GCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTG GGATTCCTGAGCTCGCCCTCCCACTCTCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0086 a0001c0002t0002g0086	1	257	0.0039	-632	c.459 others(16): Show c.459+564_459+1195del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CNN2_chr19_1021608_1044065	1034204	GTGGGTGG others(625): Show GTGGGTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGT GGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCA GCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACG GTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGA CGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGT GGGTGGGACGGTGTCTGGTGTAGACCGGGAGCA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0025	1	385	0.0026	-632	c.390 others(17): Show c.390+1661_391-1142del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
DUXA_chr19_57149021_57172485	57169034	ACCCTTTG others(625): Show ACCCTTTGTGTGTGTGTACATATATATTACATTATATTATATTTACTCCA ATTATTGTATTTACTTTTTAGCTTTATTGAGGTACAGTTAACAAAAATGA TATAAATGATATATATTTTAAATATACAGTTTGAATTTTGAAATACACAA AAGATATAATTACCATAATCAAATCAAGCTGATTGATGTATTTACCACCT CAAACCACACCCTTTGTGTGTGTGTACATATATATTACATTATATTATAT TTACTCCAATTAAATATTGTATTTACTTTTTAGCTTTATTGAGGTACAGT TGACAAAAATGATATAAATGATATATATTTTAAATATACAGTTTGAATTT TGAAATACACAAAAGATATAATTACCATAATCAAATCAAGCTGATTGATG TATTTACCACCTCAAACCACACCCTTTGTGTGTGTGTACATATATATTAC ATTATATTATATTTACTCCAATTAAATATTGTATTTACTTTTTAGCTTTA TTGAGGTACAGTTGACAAAAATGATATAAATGATATATATTTTAAATATA CAGTTTGAATTTTGAAATACACAAAAGATATAATTACCATAATCAAATCA AGCTGATTGATGTATTTACCACCTCAAACCACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 NA21309.hp2 HG02965.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	2	444	0.0045	-632	c.-22 others(11): Show c.-2223_-1592del	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		1550		chr19	TogoVar
ERICH1_chr8_659200_736224	675185	TGAGGACA others(625): Show TGAGGACAGAGACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGGCGAGGACAGAGACGCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	318	0.0031	-632	c.305 others(17): Show c.305-1770_305-1139del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675786	CGGCGAGG others(625): Show CGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCG GCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACG CGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTC GGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18980.hp1 NA20905.hp2 HG03927.hp2 NA18980.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0086	3	275	0.0109	-632	c.305 others(17): Show c.305-2371_305-1740del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675855	GCGCGGCG others(625): Show GCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTG AGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCC CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCG GCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAG ACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGG ACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCG TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGAC GCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGAC AGAGACGCGGCGGCCCCTCGGCGAGGACAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01934.hp1 others(7): Show HG00140.hp2 HG00738.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02148.hp2 HG03239.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 others(7): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0113	10	296	0.0338	-632	c.305 others(17): Show c.305-2440_305-1809del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
SAMD11_chr1_918923_949574	938037	TAGAGCCC others(625): Show TAGAGCCCTCATGAGGATGAGGAAGGGCCAGAGTCGGAGGCACTGGCTGG CCTGGGAGACCCCCAGGGCGTGGAGTCAGGGGCTTCGGAGGAGCTCGGGG TGGGTCGGAGATGGGTACATGGATGGTGTGGTCTGGAATGGGTGCGGTCG GCAGGACCCAAGGGAGGACCTCAGGAGAGTGAGCTGGGCCTGGCCTGGGC CTCCCCTCTGCCACCTGCTGGGCTGTGTTTGGGGCTGAAGCTGGACCTGG CCTGGGCCTCCCCTCTGCCACCTGCTGGGCTGTGTTTGGGGCTAGGGCTG GGCTGGCCTCGTGGCTGAGGAGGTGGGTGAAGCTACTGGGAGGTGCACCC CAGAAGCCCAGAGCCTGGCTGGGCTGGTGGACAAGGGCATGACAGCCACG CCAGGGTGCTAGCTCAGGCAGGACTGGGCCAGAGAGGAGGACGTGGGCCT TCTGGGGGCAGGGATGGGTATGACCAAGTAGGAGGCCTGGGAGTGGAGGC GCCTCGAGGCGGCCTGGGGGGCCCACAGCCCAGTGACTCACAGAGCAGCA AGAGGTCAGGTGTGAGGTCCTTCCCGGCTTGTCTCACCCCACGCTGGCAT GTGACCCTGCACAGCCCGCCCTCACTCCTGTCC	T T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19074.hp1 NA19012.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0029 a0001c0002 a0001c0029	a0001c0002t0002 a0001c0029t0002 a0001c0002t0002 a0001c0029t0002	a0001c0002t0002g0341 a0001c0029t0002g0342 a0001c0002t0002g0341 a0001c0029t0002g0342	2	432	0.0046	-632	c.968 others(16): Show c.968-1000_968-369del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SFI1_chr22_31491536_31623588	31591574	GGGGCGGC others(625): Show GGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGAACCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCC TCCCAGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGC GGAGGGCTGACCCCCCCACCTCCCTCCCAGACA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02630.hp1 others(3): Show HG02109.hp1 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 NA21309.hp2	a0002 a0011 a0002 a0011	a0002c0006 a0002c0044 a0011c0017 others(1): Show a0002c0006 a0002c0044 a0011c0017 a0011c0021	a0002c0006t0001 a0002c0044t0003 a0011c0017t0001 others(1): Show a0002c0006t0001 a0002c0044t0003 a0011c0017t0001 a0011c0021t0001	a0002c0006t0001g0309 a0002c0044t0003g0037 a0011c0017t0001g0160 others(3): Show a0002c0006t0001g0309 a0002c0044t0003g0037 a0011c0017t0001g0160 a0011c0017t0001g0308 a0011c0021t0001g0035 a0011c0021t0001g0036	6	320	0.0188	-632	c.154 others(19): Show c.1544+2014_1544+2645del	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
ZNF516_chr18_76352682_76500242	76393866	CAGGTAGT others(625): Show CAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAA GCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0179 a0001c0002t0047g0179	1	344	0.0029	-632	c.181 others(21): Show c.1811-14195_1811-13564del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADARB2_chr10_1172313_1742525	1239106	TACTCCCC others(624): Show TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACT CCCCTCTCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCT CTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCT GCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCCCTCCCTCCCGGTGTTC	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0039 a0004c0005t0002g0039	1	102	0.0098	-631	c.136 others(19): Show c.1361+2395_1361+3025del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111171	CGCCGTGA others(624): Show CGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCCGCC ACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACAC CTCCCTCCTAATCCCTCCAGACCACCTGCCCA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0271 a0001c0003t0055g0271	1	342	0.0029	-631	c.401 others(17): Show c.401+8330_401+8960del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
DDX51_chr12_132131594_132149319	132135298	ACGGTGCC others(624): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGT GTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCC CGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCT CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTG CCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18951.hp2 NA18960.hp1 others(3): Show NA18747.hp2 NA18951.hp2 NA18960.hp1 NA18970.hp1 NA18991.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0018 a0002c0002t0004 a0002c0002t0018	a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0018g0028 a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0018g0028	6	331	0.0181	-631	c.33 others(11): Show c.3343_*3973del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1295		chr12	TogoVar
FOLR3_chr11_72130725_72144892	72142377	CAGCAGTT others(624): Show CAGCAGTTAAGGCCAAAGAAGAAACACTGGATCTGCATTCCTTAGGACGG TGCCCTGTGGGCCCCTCACAGAGCTTCTCTCCTGCAACTGCTAGGTATAA GAAGGCAGGCTTAGAATCGGACTGAGATCAGTAGTTTCTGCAGCTGGGAA GATGAGTGAGGTGAGATTGCATGTGTGATAGGCTGGCACTCAGGGAAGAC CTCAGGGTTCTCTCCTCCCCACTCTGAGGCCCCTCTCCTGCTTCCTGAAG CCCAGAGTCTCCACCTCTGTGAGCCAAACACCTTCCTGTTATCTGCCTGG TCCTAGGGTAGCCTTCGGGTTGGGGTTAGAAGGAATGCCAATGGTTAACC TTGTGGTATTAAGCTTCCAGCTCAGGCAGATACTCTCTGGACTGGTTCAA GCTGACTGCCTGACTGTCCCTCCCTGCTGGCCCTAGCACCCAGACTCCAG ATAGGCACACCACCTCACCCTTCAGAGCAGGGCTCTGAGACTCCACAAGT GGTGAGGACTTACCAGAGGAACTGAACTTGACCTCCAACCCAACCTTCCA TTTGCTGGTATTATTCTGAAGCCCTCATGGCCCAGGGGCCTGCCTCAGGT AGCAGGTCTCACTCCTGCAGTGGAGGGGCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-631	c.25 others(11): Show c.2547_*3177del	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding		2486		chr11	TogoVar
PYGL_chr14_50900217_50949483	50942181	CACGTGTG others(624): Show CACGTGTGGAATGAAACATGTTCATTGTTGTATCCCCAGTGTATCGCTAT CAGAATTTACACACGTCGGAATTCCTGGCTTATATCTGCACTCACGTAGA AAAGGAGAGCCCAGTGAAGAAACTGGCCGGAGAACCAGGAAAACCATAAA GCACTGCATAAGCCACTGAAGGAAAAACATACAAGATTCTCTGGTGCTCT ATGATGCTAAATGCTACAGAGGCGTGAGTGTGTGTTTCTAATATATGCTC AGTGTCCCACCCTTCCGCTTAAAATTGTTAAAAATAATTTTTAATGAGAG GCGCAGTATGGTGTACTTAGTAGCATTCCCTTTGTGTAAATAAATTTTTA AAAGATAGTGGCCGAGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCAAGGAAGGAGGATCATTTGAGGCCAGGAGTTTGAGAGCAGCCT GGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAACTTAGCCAGG TGTAGTGGTAGGAGCCTGTAGTCCCAGCTACTCGAGAGTCTGAGGCAGGA GAATCGCTTCAACCCTGGAGGCGAAGGATGCAGTGAGCCAAGATGGCGCC GCTGCACTTCATTCAGCCTGGGCGAGAGTGAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(106): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0015 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0006t0002 a0001c0015t0003 a0002c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0051 others(70): Show a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0002t0001g0220 a0001c0002t0003g0001 a0001c0002t0003g0006 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0088 a0001c0002t0003g0210 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0226 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0258 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0006t0002g0049 a0001c0006t0002g0250 a0001c0015t0003g0043 a0002c0004t0001g0262	109	388	0.2809	-631	c.243 others(17): Show c.243+1349_243+1979del	PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	1/19			chr14	TogoVar
SHISA6_chr17_11236213_11569063	11508366	ACTCCAAT others(624): Show ACTCCAATGTCAAGCCCCTTTATAAAGGCACCTAGCCCCATTCACCAAAG AGGAGCCCTCATAGCCTAATCACCTCTTAAAGGACCTACCACTTCATACC ATCATATCCTGAGGACCTCTAAAGCTCAGGAACCAGTGGCCAAATCCTCA AATTCACTCATGGTTGAATCAGCCCCTCCCCTCCTCTCCCCTCCCCTCCC CTCCCCTTCCTTTCCCACCTCTCCCCTGCCAGTGCTCCCAGGTCATTTCT CCTTGGGGGTGCCCACAGGTGGGTGCTTCATGCAATATGGCAGACAGAGG TGAGAAGGCTTTCTCCTTCTCTGCCTTCTTCCTTGGCTATACAATTTTGT GGCTTCCTTTTATTCATCTAGCAAATATTTATGAAGTTAGTGACTCTGTA CCATGCACTCCTTTAGGTATTAGGGCTATAATCAGTGAACAAGACAAGTA TGGTCCCTCTGTCCAAGAAGATATCTACCAGTGGCAACCAATGAGCAAAC ACACAAATAAGACAGATGCAAGTTGTGATGGGGGCCACAAAGCAATAGGA TACAAAAGAGGAACATGGCACACACTTGAGACAGGGGGTCAGAGAAACCC TCCTGAGGAAGAAAAACCTGTGACAAGAGCTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(54): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00735.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02965.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp1 HG03516.hp2 HG03710.hp2 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18950.hp1 NA18950.hp2 NA18973.hp1 NA18989.hp2 NA18999.hp1 NA19005.hp2 NA19056.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0013 a0003c0010 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0033 a0001c0001t0038 a0001c0001t0043 a0001c0001t0046 a0001c0001t0049 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0003t0002 a0001c0003t0011 a0001c0003t0015 a0001c0004t0016 a0001c0006t0044 a0001c0012t0017 a0001c0013t0029 a0003c0010t0002 a0004c0007t0039	a0001c0001t0001g0086 a0001c0001t0002g0006 a0001c0001t0002g0008 others(54): Show a0001c0001t0001g0086 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0079 a0001c0001t0002g0150 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0003g0043 a0001c0001t0003g0127 a0001c0001t0003g0176 a0001c0001t0005g0065 a0001c0001t0005g0089 a0001c0001t0005g0145 a0001c0001t0005g0166 a0001c0001t0005g0177 a0001c0001t0007g0119 a0001c0001t0009g0003 a0001c0001t0009g0129 a0001c0001t0009g0131 a0001c0001t0013g0017 a0001c0001t0013g0120 a0001c0001t0015g0083 a0001c0001t0015g0084 a0001c0001t0019g0030 a0001c0001t0019g0184 a0001c0001t0026g0046 a0001c0001t0027g0073 a0001c0001t0031g0117 a0001c0001t0033g0173 a0001c0001t0038g0141 a0001c0001t0043g0142 a0001c0001t0046g0048 a0001c0001t0049g0039 a0001c0002t0002g0020 a0001c0002t0002g0091 a0001c0002t0002g0100 a0001c0002t0005g0098 a0001c0002t0009g0135 a0001c0003t0002g0105 a0001c0003t0002g0138 a0001c0003t0011g0076 a0001c0003t0015g0123 a0001c0004t0016g0055 a0001c0004t0016g0102 a0001c0004t0016g0118 a0001c0006t0044g0074 a0001c0012t0017g0183 a0001c0013t0029g0021 a0003c0010t0002g0009 a0004c0007t0039g0107	57	190	0.3000	-631	c.896 others(19): Show c.896-43529_896-42899del	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	3/5			chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1072450	GCCCCCAG others(624): Show GCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATCACACTTATG CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0023 a0001c0007t0006g0023	1	103	0.0097	-631	c.224 others(18): Show c.2241+552_2241+1182del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
VAV2_chr9_133756894_133997324	133827437	CTGAGTGG others(624): Show CTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGG GCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCC AGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCAC CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCT ACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGAGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00642.hp2 others(6): Show HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01884.hp1 HG02129.hp2 HG02451.hp2 HG02602.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0001 others(1): Show a0001c0002 a0001c0008 a0002c0001 a0002c0011	a0001c0002t0001 a0001c0008t0002 a0002c0001t0002 others(1): Show a0001c0002t0001 a0001c0008t0002 a0002c0001t0002 a0002c0011t0003	a0001c0002t0001g0107 a0001c0002t0001g0118 a0001c0002t0001g0141 others(6): Show a0001c0002t0001g0107 a0001c0002t0001g0118 a0001c0002t0001g0141 a0001c0008t0002g0174 a0002c0001t0002g0069 a0002c0001t0002g0074 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0011t0003g0135	9	180	0.0500	-631	c.449 others(17): Show c.449+6204_449+6834del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827626	CCACTGAG others(624): Show CCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAG TGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGG GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCAC CACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCA GCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0097 a0001c0003t0006g0097	1	193	0.0052	-631	c.449 others(17): Show c.449+6015_449+6645del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ZNF516_chr18_76352682_76500242	76392933	GGGCAGGT others(624): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG GGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0042 a0002c0013t0042	a0002c0013t0042g0186 a0002c0013t0042g0187 a0002c0013t0042g0186 a0002c0013t0042g0187	2	258	0.0078	-631	c.181 others(21): Show c.1811-13261_1811-12631del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ANKRD11_chr16_89262630_89495561	89429152	ACGTTCTA others(623): Show ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACAC AGCAGGGACTCTCAACTCTCAGGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAAC TCTCAGGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGC TCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGT TCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTAC ACAGCAGGGACTCTCAACTCTCACGCTCAGT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0125 a0001c0022t0001g0125	1	301	0.0033	-630	c.-14 others(21): Show c.-144-11414_-144-10785del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429172	GATTCTCA others(623): Show GATTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCAC GCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGAC GTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGT ACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCA GGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCT CAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTC AGGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAG TCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTA GTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACT CTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTC TCACGCTCAGTCGTTCTAGTACACAGCAGGT	G G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18979.hp1 NA18939.hp2 NA18979.hp1	a0002 a0030 a0002 a0030	a0002c0002 a0030c0039 a0002c0002 a0030c0039	a0002c0002t0002 a0030c0039t0007 a0002c0002t0002 a0030c0039t0007	a0002c0002t0002g0167 a0030c0039t0007g0268 a0002c0002t0002g0167 a0030c0039t0007g0268	2	173	0.0116	-630	c.-14 others(21): Show c.-144-11434_-144-10805del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429256	GACTCTCA others(623): Show GACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCA ACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGC GCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGAC GTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGT ACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCA GGGACTCTCAACTCTCAGGCTCAGACGTTCTAGTACACAGCAGGGACTCT CAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTC AGGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAG TCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCACGCTCAGACGTTCTAGTACACAGCAGGT	G G	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0140 a0005c0005t0001g0140	1	308	0.0032	-630	c.-14 others(21): Show c.-144-11518_-144-10889del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429480	GCGCTCAG others(623): Show GCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTA GTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACT CTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTC TCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTC AGTCGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACAC AGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGATTCTCAAC TCTCACGCTCAGTCGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGC TCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGT TCTAGTACACAGCAGGGACTCTCAACTCTCA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	304	0.0033	-630	c.-14 others(21): Show c.-144-11742_-144-11113del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ASMTL_chrX_1398139_1457909	1408376	CCTCCAGC others(623): Show CCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAAC ACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATG ACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTG AACTATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATA CTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTG CAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCC AAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAA GGCTGCAGTGAACTATGATGGCAACACTGCA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18984.hp1 NA18950.hp1 NA18984.hp1	a0003 a0003	a0003c0002 a0003c0006 a0003c0002 a0003c0006	a0003c0002t0001 a0003c0006t0001 a0003c0002t0001 a0003c0006t0001	a0003c0002t0001g0146 a0003c0006t0001g0069 a0003c0002t0001g0146 a0003c0006t0001g0069	2	175	0.0114	-630	c.164 others(19): Show c.1645+3726_1645+4355del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
C1orf159_chr1_1076823_1121089	1077239	GCCGGGAG others(623): Show GCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGC TGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGT GGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGC TGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGT GCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATG GGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGC TGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGT TGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACG GGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGC TGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGT GCGGGGAGGCTGAGGCTACGGGGACTCCGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	317	0.0032	-630	c.50 others(11): Show c.5024_*5653del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4583		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078681	CGGGAGGC others(623): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGA GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGTGGCTGAGGCTATGGGGACTCCGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0301 a0001c0002t0004g0301	1	107	0.0093	-630	c.35 others(11): Show c.3582_*4211del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3141		chr1	TogoVar
CAMK1D_chr10_12344547_12840545	12775490	AGGTGAGA others(623): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03490.hp1 HG03492.hp2 HG02293.hp1 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0023 a0001c0001t0003 a0001c0002t0023	a0001c0001t0003g0001 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0001t0003g0001 a0001c0002t0023g0102 a0001c0002t0023g0103	3	214	0.0140	-630	c.565 others(17): Show c.565+5693_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHMP1A_chr16_89639435_89662708	89647539	AGTGGAGA others(623): Show AGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGC CGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGAGACCCAGCGCGGGGTCG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	355	0.0028	-630	c.253 others(15): Show c.253-838_253-209del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647732	GGACCCAG others(623): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAG AAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	238	0.0042	-630	c.252 others(15): Show c.252+989_253-402del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CNN2_chr19_1021608_1044065	1034442	GACGGGGA others(623): Show GACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGT GTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGT GGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAT	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	388	0.0026	-630	c.391 others(17): Show c.391-1685_391-1056del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CROCC2_chr2_240901336_240998311	240978176	TCTCTGGG others(623): Show TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCACCCCTCCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTACGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGTGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG03225.hp1 HG02976.hp2 HG03098.hp1 HG03225.hp1	a0012 a0018 a0012 a0018	a0012c0013 a0018c0016 a0012c0013 a0018c0016	a0012c0013t0001 a0018c0016t0001 a0012c0013t0001 a0018c0016t0001	a0012c0013t0001g0147 a0012c0013t0001g0148 a0018c0016t0001g0084 a0012c0013t0001g0147 a0012c0013t0001g0148 a0018c0016t0001g0084	3	304	0.0099	-630	c.440 others(19): Show c.4402-4681_4402-4052del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240978266	TCTCTGGG others(623): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCACCCCTCCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTACGAGCCTCA GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCT GTGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0026 a0026	a0026c0035 a0026c0035	a0026c0035t0003 a0026c0035t0003	a0026c0035t0003g0233 a0026c0035t0003g0233	1	238	0.0042	-630	c.440 others(19): Show c.4402-4580_4402-3951del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980111	TCTCTGGG others(623): Show TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT GGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGTGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01981.hp1 HG03927.hp2 others(3): Show HG01081.hp2 HG01981.hp1 HG03927.hp2 NA18953.hp2 NA18962.hp2 NA18995.hp1	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0031 a0049 a0056	a0001c0001 a0005c0005 a0006c0006 others(3): Show a0001c0001 a0005c0005 a0006c0006 a0031c0093 a0049c0083 a0056c0094	a0001c0001t0002 a0005c0005t0001 a0006c0006t0001 others(3): Show a0001c0001t0002 a0005c0005t0001 a0006c0006t0001 a0031c0093t0001 a0049c0083t0001 a0056c0094t0001	a0001c0001t0002g0298 a0005c0005t0001g0037 a0006c0006t0001g0073 others(3): Show a0001c0001t0002g0298 a0005c0005t0001g0037 a0006c0006t0001g0073 a0031c0093t0001g0072 a0049c0083t0001g0154 a0056c0094t0001g0071	6	222	0.0270	-630	c.440 others(19): Show c.4402-2746_4402-2117del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132135404	ACGGTGCC others(623): Show ACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTAC CTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGA GTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC CCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTG TGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	328	0.0030	-630	c.32 others(11): Show c.3238_*3867del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1189		chr12	TogoVar
FOXN3_chr14_89151177_89422233	89362152	TCCACCAC others(623): Show TCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTAC CACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCA GCACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCACC ACCACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCAC CACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCA CCACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACC AGCTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTC CACCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCCACCA CCACCTCCACCACCACCACCACCACCATCTCTACGACCACCACCACCACC ACCATCTCTACGACCACCACCACCTCCACCACCATCTCCACCACCACCAC CACCATCTCCACCACCACCTCCACCACCATCTCCACCACCACCACCACCA CCACCACCACCACCACCATCTCCACCACCACCTCCACCACCATCTCCACC ACCACCACCACCACCACCACCACCACCACCA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	193	0.0052	-630	c.544 others(19): Show c.544-11974_544-11345del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
HIC1_chr17_2050103_2068241	2052377	TGCCTGGG others(623): Show TGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0002 a0001c0001t0040g0002	1	366	0.0027	-630	c.-28 others(11): Show c.-2881_-2252del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
HIC1_chr17_2050103_2068241	2052437	GGGGGTTA others(623): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG01106.hp1 others(51): Show HG00544.hp2 HG00642.hp2 HG01106.hp1 HG01243.hp2 HG01257.hp2 HG01358.hp1 HG01884.hp2 HG01934.hp1 HG02056.hp2 HG02132.hp2 HG02135.hp1 HG02602.hp1 HG02735.hp2 HG02809.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 NA18522.hp2 NA18942.hp1 NA18951.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18974.hp1 NA18979.hp2 NA18983.hp1 NA18987.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp2 NA19011.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19080.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0014 a0003c0006 a0007c0011 a0008c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0027 a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0050 a0001c0001t0066 a0001c0001t0079 a0001c0002t0051 a0001c0008t0003 a0001c0014t0001 a0003c0006t0001 a0007c0011t0001 a0008c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0003g0001 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0005g0002 a0001c0001t0006g0001 a0001c0001t0008g0001 a0001c0001t0013g0001 a0001c0001t0018g0001 a0001c0001t0027g0001 a0001c0001t0028g0009 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0044g0001 a0001c0001t0050g0001 a0001c0001t0066g0001 a0001c0001t0079g0001 a0001c0002t0051g0001 a0001c0008t0003g0001 a0001c0014t0001g0001 a0003c0006t0001g0001 a0007c0011t0001g0001 a0008c0017t0001g0001	54	409	0.1320	-630	c.-28 others(11): Show c.-2821_-2192del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2665		chr17	TogoVar
ITPRID1_chr7_31509090_31661504	31551049	ATCAGTGA others(623): Show ATCAGTGAAGGAGTGAGATTATTTTGGGGATCTTATTTTTCTGTGATATG TTATTCTTTTCTTCAAACCTTTTGATCCTTTATTGAATCTGGTATTTCAT GAATGTTGTTGAGCATGGTTTTGGAGTTTTTCCTCCTTGTGAAATTTTGC ACTGTCAGTGTCGATGCTGTTATTAGCATTCATGCTCACAAGATAAAGGC ACTGCTGAAGAGTTATGTGTTTCCTTGAAAGACCCAAAACCTATGTGAAG CTAAATAACTAAAATTTCAGTGAGTTTTTAAAGGTTATTTTGTTTAATGT TATGAATTCTAGTATACCAAACAATTCTCCAAAGGTTAGGAACATAATTC AGTCTGCATTATTCTGTCTTGTGTTATTACTGAAATTTTTATAATTTGCT ACCAGCAGATATTCCTAAAGTTAACTGGCTAAAATATTGACTGTTAATAT AGATATAACTATTTTTTCCCTTAATTTTTAACTAATTGAAATGTCTTCAT TTTTGTTTTTTAACATAAAATTGACAGCCATCATAATTATTGATTTTTGT AGTAATTTAAAATTGCAACAATAAATGTATATATTTATACCTGACAGAAT TTGAATATATAAAGCACGTAAGAAAATTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp2 others(51): Show HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00673.hp1 HG01167.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01943.hp2 HG01993.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02630.hp2 HG02895.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp1 NA18942.hp1 NA18948.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp1 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp2	a0002 a0003 a0012 others(3): Show a0002 a0003 a0012 a0016 a0022 a0023	a0002c0001 a0003c0005 a0003c0007 others(4): Show a0002c0001 a0003c0005 a0003c0007 a0012c0016 a0016c0020 a0022c0031 a0023c0036	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(13): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0022 a0003c0005t0001 a0003c0005t0003 a0003c0005t0013 a0003c0007t0003 a0003c0007t0027 a0012c0016t0004 a0012c0016t0030 a0016c0020t0003 a0022c0031t0003 a0023c0036t0001	a0002c0001t0001g0029 a0002c0001t0001g0169 a0002c0001t0001g0191 others(51): Show a0002c0001t0001g0029 a0002c0001t0001g0169 a0002c0001t0001g0191 a0002c0001t0001g0197 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0002g0009 a0002c0001t0002g0018 a0002c0001t0002g0030 a0002c0001t0002g0178 a0002c0001t0002g0180 a0002c0001t0002g0184 a0002c0001t0002g0188 a0002c0001t0002g0189 a0002c0001t0002g0203 a0002c0001t0002g0218 a0002c0001t0003g0192 a0002c0001t0003g0193 a0002c0001t0003g0195 a0002c0001t0003g0196 a0002c0001t0003g0208 a0002c0001t0003g0210 a0002c0001t0005g0204 a0002c0001t0007g0028 a0002c0001t0007g0216 a0002c0001t0007g0217 a0002c0001t0022g0207 a0003c0005t0001g0190 a0003c0005t0003g0172 a0003c0005t0003g0175 a0003c0005t0003g0176 a0003c0005t0003g0186 a0003c0005t0003g0187 a0003c0005t0003g0194 a0003c0005t0003g0200 a0003c0005t0003g0201 a0003c0005t0003g0209 a0003c0005t0003g0212 a0003c0005t0003g0215 a0003c0005t0013g0235 a0003c0007t0003g0179 a0003c0007t0003g0182 a0003c0007t0003g0185 a0003c0007t0003g0211 a0003c0007t0003g0213 a0003c0007t0003g0214 a0003c0007t0027g0183 a0012c0016t0004g0198 a0012c0016t0004g0199 a0012c0016t0030g0174 a0016c0020t0003g0173 a0016c0020t0003g0177 a0022c0031t0003g0181 a0023c0036t0001g0202	54	310	0.1742	-630	c.-24 others(17): Show c.-24+1551_-23-1323del	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	2/14			chr7	TogoVar
KDELR2_chr7_6456089_6489152	6456832	GTGAGCCA others(623): Show GTGAGCCATTGCTCCTGGCCTCGACTTTTTTTTTTCTTTTTCTTTTTTTA GACAGGGTCTTACTTTGTCATCCACACTGGAACACAGTGGCCCACTCTCA GCTCACTGTAGCCTCGACTTCCCAAGGTTCAAGTGATCCTCCTGCTTCAG TCTCCTAAGTAGCTGGGACTATAGGTGCACAGCACAACACCTGACTAATT TTTGTATTTTTTGTAGAGACGGGTTTTGCCACGTTGCCCAGGCTGGTCAA ATTCCTGAGTTCAAGCGATCCACCCACCTCGTCCTCCCAAACCAAAGTGC TAGGATTACAGGCATGAGCTACCATGCCTGCCAAATCCTTTTTTTTTTTT TTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGT GGTGCGATCGCAGCTCACTGCAACTTCTGCCTTCCGGGTTCAAACGATTC TCCGACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCATA CCCAGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACC ATGTTGGACAGACTGGTCTCAAACTCCTGATCTCTGGTGATCCGTCCGCT TCGGCCTCGCAAAGTGCTGGGATTACAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	418	0.0024	-630	c.56 others(11): Show c.5679_*6308del	KDELR2	ENSG00000136240.10	transcript	ENST00000258739.9	protein_coding		4256		chr7	TogoVar
NR6A1_chr9_124512275_124776311	124568446	GCACTCCA others(623): Show GCACTCCAGCCTGGGTGACACAGCAAGACTCTGTCTCAAAAAAAAAAAAC AAAAGAAACATAGAAACAGTCTTTTAAGAGGAGAATGAAATGTAATCATG TAATCAACCCATGCTTTCCAAATAAAAACTTGCATGAAAAGTAAGACAAG TTAAACATTTGTGTATCTTTTTCTGTATTTTATTTTTATTAAGAAAAAAA TTAAGTGACTTGCCCAGGGTTAGAAAAGCAAAGTGATTCACCCAAGGACA CAGCAAATCAGTGATGGAACTGAGTTTTAACCTTATTACTCTTCAAAAGA TAGACTTCCCATTACATAAACTACCTCCTGTGAAGGTGGGGGAAGAGAAG GATGGTTGGTATGGCAGGTATCAAGACTGAGCCTCAGGCCGGGCACAGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGTCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACACCGTCTC TACTGAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTC CCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCG GAGCTTGCAGTGAGCCAAGATCACGCCACCT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02647.hp2 others(7): Show HG02145.hp2 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0010 a0001c0002t0068 a0001c0002t0005 a0001c0002t0010 a0001c0002t0068	a0001c0002t0005g0226 a0001c0002t0005g0227 a0001c0002t0005g0228 others(7): Show a0001c0002t0005g0226 a0001c0002t0005g0227 a0001c0002t0005g0228 a0001c0002t0005g0229 a0001c0002t0005g0230 a0001c0002t0010g0222 a0001c0002t0010g0223 a0001c0002t0010g0224 a0001c0002t0010g0225 a0001c0002t0068g0221	10	232	0.0431	-630	c.143 others(19): Show c.143-14506_143-13877del	NR6A1	ENSG00000148200.17	transcript	ENST00000487099.7	protein_coding	2/9			chr9	TogoVar
PLCXD3_chr5_41301952_41515601	41403282	TTTTTTTT others(623): Show TTTTTTTTTTTTCTATTTAAAGGCTTTTAATTATTTGGAAATAATTGTAA GCATACAGAAAAGTACAAAATAACACTAAGAATACCCATATGCCATTTAC CCAGATTGACTTATTTGTTGTTTTTTTTTTTTTTTATTATACTCTAAGTT TTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTG CCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATAT CTCCCAATGCTATCCCTCCCCACTCCCCCGACCCCACCACAGTCCCCAGA GTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCA CCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTT ACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGA ACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCAC ATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGT CTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTT TATAGCAGCATGATTTATAGTCCTTTGGGTA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18969.hp1 NA19003.hp1 NA18947.hp2 NA18969.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0052 a0001c0001t0013g0185 a0001c0001t0013g0200 a0001c0001t0013g0052 a0001c0001t0013g0185 a0001c0001t0013g0200	3	242	0.0124	-630	c.104 others(19): Show c.104-21378_104-20749del	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
RAB31_chr18_9703301_9867551	9815290	ACTGTCCT others(623): Show ACTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATGCGTG TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATGCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGAT GCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTG TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGGAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp2 HG01884.hp2 others(32): Show HG00621.hp1 HG01081.hp2 HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02895.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp1 HG03831.hp2 NA18945.hp1 NA18961.hp2 NA18979.hp1 NA18995.hp2 NA19057.hp2 NA19068.hp2 NA19077.hp2 NA19083.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0001t0032 a0001c0001t0035 a0001c0001t0044	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0033 others(32): Show a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0148 a0001c0001t0001g0187 a0001c0001t0001g0228 a0001c0001t0001g0287 a0001c0001t0001g0304 a0001c0001t0002g0072 a0001c0001t0002g0097 a0001c0001t0002g0320 a0001c0001t0003g0269 a0001c0001t0004g0129 a0001c0001t0005g0089 a0001c0001t0005g0197 a0001c0001t0005g0204 a0001c0001t0005g0216 a0001c0001t0007g0131 a0001c0001t0008g0113 a0001c0001t0008g0125 a0001c0001t0010g0245 a0001c0001t0013g0155 a0001c0001t0013g0172 a0001c0001t0013g0196 a0001c0001t0015g0115 a0001c0001t0015g0117 a0001c0001t0017g0095 a0001c0001t0026g0083 a0001c0001t0032g0070 a0001c0001t0035g0073 a0001c0001t0044g0157	35	223	0.1570	-630	c.380 others(15): Show c.380+163_380+792del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RGPD4_chr2_107821892_107897544	107828922	CGCGGCGG others(623): Show CGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTC CCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCCGGCCCGGCGGCGGCC TCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGC TCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTC AGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGG CGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCCATGGCTCAGGCGTCATG GCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTT GACCCGGCCCGGCGGCGGCCTGGATGGCTCAGGCGTCATGGCTCCCGATG GGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCTGGCCC GGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTACCGACGGGCGCTGCTC CCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCTGGCCCGGCGGCGGCC TCGATGGCTCAGGCGTCATGGCTACCGACGGGCGCTGCTCCCTGGCGCGC TCTGTTGAGGCGGCGGCCTCGACCTGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0238 a0005c0005t0004g0238	1	125	0.0080	-630	c.72+ others(15): Show c.72+1889_72+2518del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
SERPINF2_chr17_1737871_1760265	1740832	GGGTGGGA others(623): Show GGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGA GGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTG GGAAGGGGCCTGATGCAGGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCAGGACAGTGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	444	0.0023	-630	c.-20 others(11): Show c.-2080_-1451del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2038		chr17	TogoVar
SHOX_chrX_625791_656584	628387	GTCTGTCT others(623): Show GTCTGTCTCTCCCTTTCTCTCTCTCTGTCTCTCCCTCTCTCTCCCTGTCT GTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTTTCT CTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTCCATCT GTCTGTCTCTCTCTTTCTCTCTCTATCTCTCCCTCTCTCTCCCTGTCTGT GTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTTTCTCT CTCTCCATCTCTCTCTGTCTCTCCCTGTCTGTTTCTCTCTCTCCATCTGT CTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTCTGT TTCTCTCTCTCTATCTGTCTGTCTCTCTCTTTTTCTCTCTCTATCTCTCC CTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGT CTCTCCCTGTGTTTCTCTCTCTCCATCTCTCTCTGTCTCTCCCTGTGTGT TTCTCTATCTCCATCTCTCTGTCTCTCCCTTTCTCTCTCTCTGTCTCTCC CTCTCTCTCCCTGTCTGTGTCTCTCTTTCTCTCTCTCCATCTCTCTCTGT CTCTCCCTGTGTGTTTCTCTCTCTCCATCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02922.hp1 others(1): Show HG02615.hp1 HG02615.hp2 HG02922.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0055 a0001c0001t0144 others(1): Show a0001c0001t0009 a0001c0001t0055 a0001c0001t0144 a0001c0001t0162	a0001c0001t0009g0144 a0001c0001t0055g0146 a0001c0001t0144g0148 others(1): Show a0001c0001t0009g0144 a0001c0001t0055g0146 a0001c0001t0144g0148 a0001c0001t0162g0121	4	217	0.0184	-630	c.-25 others(11): Show c.-2510_-1881del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2403		chrX	TogoVar
SUCLG2_chr3_67369719_67659612	67444076	CGCCTGGC others(623): Show CGCCTGGCCAGCCGCGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCAG GAGGGAGATGGGGGGGTCAGCCCTCCCACCCGGCCAGCCGCCCCGTCTGG GAGGGAGGTGGGGGGGTTAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAACCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCTGT CCGGGAGGGAGGTGGGGGTGTCAGTCCCCCGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGGGTCAGCCCCCCT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18945.hp2 NA18966.hp2 others(2): Show NA18940.hp2 NA18945.hp2 NA18966.hp2 NA18972.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0154 others(2): Show a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0219 a0001c0001t0002g0144	5	278	0.0180	-630	c.106 others(21): Show c.1063-43855_1063-43226del	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
TCF25_chr16_89868592_89916379	89879205	ACACAGAT others(623): Show ACACAGATGGGCTTCGGGGCCTGTCACACGTGTTGTCCGTGTGCACAGAT GGGCTTCGGGGCCTGTCACACGTGTTGTCCGTGTACACAGACGGGCTTCA GAGCCTGTCACACGTGCTGTTCGTGTACACAGACGGGCTCCTGGGCCTGT CACACGTGCTGTCCGTGTACACAGATGGGCTTCGGAGCCTGTCACACGTG TTGTCCGTGTACACAGATGGGCTTCGGGGCCTGTCACACGTGTTGTCCGT GTACACAGATGGGCTTCGGGGCCTGTCACACGTGTTGTCCGTGTGCACAG ATGGGCTTCGGGGCCTGTCACACGTGTTGTCCGTGTGCACAGATGGGCTT CGGGGCCTGTCACACGTGTTGTCCGTGTGCACAGATGGGCTTCGGGGCCT GTCACACGTGTTGTCCGTGTGCACAGATGGGCTTCGGGGCCTGTCACACG TGTTGTCCGTGTGCACAGATGGGCTTCGGGGCCTGTCACACGTGTTGTCC GTGTGCACAGATGGGCTTCGGGGCCTGTCACACGTGTTGTCCGTGTGCAC AGATGGGCTTCGGGGCCTGTCACACGTGTTGTCCGTGTGCACAGATGGGC TTCGGGGCCTGTCACACGTGTTGTCCGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	298	0.0034	-630	c.193 others(17): Show c.193-4087_193-3458del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
THBS3_chr1_155190588_155212897	155190792	GCCGGCCT others(623): Show GCCGGCCTGGTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGT GGAGCCCGGGGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGG CCTGGTGTCCGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGG GCCGGCAGGGGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTG GAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTTG GGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCC GAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGT GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGTG GAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGC GGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGACA TCGTAGACTGCGGGCGCGGTGGAGCCCGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	-630	c.44 others(11): Show c.4419_*5048del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4795		chr1	TogoVar
WDR81_chr17_1719704_1743585	1740832	GGGTGGGA others(623): Show GGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGA GGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTG GGAAGGGGCCTGATGCAGGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCAGGACAGTGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	430	0.0023	-630	c.31 others(11): Show c.3148_*3777del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		2248		chr17	TogoVar
ADARB2_chr10_1172313_1742525	1592569	TCCCTTCG others(622): Show TCCCTTCGCCAAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCC TCTGTCACCCAGCTACCCTCGCCCAAGCCACCCTCCATAGGTCTCCTCTC TGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCGCCCAAGCCACCCTCCA TAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGATTCACTCACCC AAGCCACCCTCCATAGGTCTCTTCTCTGGCATGGTCCCCTCTGTCACCCA GCTTCCCTCGCCCAAGCCACCCTCCATAGGTTTCCTCTCTGGCATGGTCC CCTCTGTCACCCAGCTTCCCTCACCCAAGCCACCCTCCATAGGTCTCCTC TCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCGCCCAAGCCACCCTC CATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCAC CCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACC CAGCTTCCCTCGCCCACGCCACCCTCCATAGGTCTCCTCTCTGGCATGGT CCCCTCTGTCACCCAGCTCCCTTCACCCAAGCCACGCTCCATCGGTCTCC TCTCTGGCATGGTCCCCTCTGTCACCCAGC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0071 a0001c0003t0032g0071	1	106	0.0094	-629	c.100 others(21): Show c.100+143853_100+144481del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar

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