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
THEG_chr19_356747_381026	376852	CCTCCACC others(695): Show CCTCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC GTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTC CCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	361	0.0028	-702	c.-15 others(10): Show c.-1584_-883del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		827		chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291728	CCTCCGTG others(695): Show CCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTA CGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC CCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTG TGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTG TCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTC CCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACT CCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGA GCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGT CCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCC GTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGC ACA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	282	0.0035	-702	c.121 others(16): Show c.1214+69_1214+770del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
DDX51_chr12_132131594_132149319	132135249	CCCCGAGT others(694): Show CCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTG TGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCG GTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTG CCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGC TCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGC CCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCAC CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	329	0.0030	-701	c.33 others(11): Show c.3322_*4022del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1344		chr12	TogoVar
HSD11B1L_chr19_5676027_5693522	5688859	TTCAAGCG others(694): Show TTCAAGCGATTCTTGTGCCTCAGCCTCCCAAATAGTTCAGATTACAGGTG TGGGTCACAACGCCTGACTTTTTGTATTTTTAGTAGAGACGGGGTTTTAC CATGTCGGCCAGGCTGGTCTCGAACTCCTAGCCTTAGGTGATCCCCCTGT CTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTCAGCCACTGCACCCGGC CACAAACAAATATTTTAATTAAAAAATTAGCCAGGCGTGGTGGCATGTGC CTGTGGTCCCAGCTAAGGAGGCTAAGGCAGGAGGATCACTTGAGCCCTGG AAGTCAAGGCTACAATAAGCTATGATTACAGCAGTGCACTCTAGCCTGGG CGACAGAGCAAGACCCTGTCTGGAAAAAACATGAAAGCGCTAACCCTAAT TAGAGCAGCCCTAAATTGAGACTCTCTTCTTGTATATTAGTAGCATTAAA GGAGAAAAACTGGAAACTTGTGTGTTTCTGCCACCCGATTCAGTTATTTA GCGTCCCGTCCCTACACCACCTAAATTACATCAGATGTCCGCAAGGGGCA CTATTACACGTTGCTGTATTCAGACCTAGTCTAGAGCTTGACCAATTGAT AACAAAACCAATACCTTTTTTTTTAAATGGAGTTTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCTTGG GC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	380	0.0026	-701	c.91 others(10): Show c.915_*1615del	HSD11B1L	ENSG00000167733.14	transcript	ENST00000339423.7	protein_coding		338		chr19	TogoVar
LONP1_chr19_5686834_5725146	5688859	TTCAAGCG others(694): Show TTCAAGCGATTCTTGTGCCTCAGCCTCCCAAATAGTTCAGATTACAGGTG TGGGTCACAACGCCTGACTTTTTGTATTTTTAGTAGAGACGGGGTTTTAC CATGTCGGCCAGGCTGGTCTCGAACTCCTAGCCTTAGGTGATCCCCCTGT CTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTCAGCCACTGCACCCGGC CACAAACAAATATTTTAATTAAAAAATTAGCCAGGCGTGGTGGCATGTGC CTGTGGTCCCAGCTAAGGAGGCTAAGGCAGGAGGATCACTTGAGCCCTGG AAGTCAAGGCTACAATAAGCTATGATTACAGCAGTGCACTCTAGCCTGGG CGACAGAGCAAGACCCTGTCTGGAAAAAACATGAAAGCGCTAACCCTAAT TAGAGCAGCCCTAAATTGAGACTCTCTTCTTGTATATTAGTAGCATTAAA GGAGAAAAACTGGAAACTTGTGTGTTTCTGCCACCCGATTCAGTTATTTA GCGTCCCGTCCCTACACCACCTAAATTACATCAGATGTCCGCAAGGGGCA CTATTACACGTTGCTGTATTCAGACCTAGTCTAGAGCTTGACCAATTGAT AACAAAACCAATACCTTTTTTTTTAAATGGAGTTTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCTTGG GC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	384	0.0026	-701	c.24 others(11): Show c.2472_*3172del	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding		2974		chr19	TogoVar
PFKFB1_chrX_54927961_54999188	54968492	ATATTTTG others(694): Show ATATTTTGGACTAAAAATATAATAGCTGAAATAAAAACTTAGGAATGAAA GAGTAGATAGAAATTTCATAGGTATTACAATGACAAGAGTATATAATAGC AATTCTAAACACATAAATTCGACAACATAGATGAAACAAATTCCTCAAAA AGAACAAACTGGCAAACCTTATCCAAAATGTAACAAATAATCTAAATAAT CTAAATCCTTCTATAAATATTACTGAAATTGAATTTGTAATTAAAAATCT TCCCCCAAAATACCCAGGTCCAGACGGTTTCACTGGCAAATTTTACCATT CATTTAAAGAAGAAATAGCATCAATTCTATACAATCTCTCTATGAAACTA GAAGACAGGAAAATACATATCAACTTACTCTGTGAGGCCAGCATTACCCT GATATAAAAACCAGAAAAATAAGTGATACAAAAAAAGAAAACTCCAAGTC AATATCCCTCATGAACATAAGAATCCTAAAAAAATGCAAATGAAATTTGG CTATATATAAAATAGATAATTAATATACCACAAGAAAGCACGGTTTTTCC CAGGAATACAAGGCTGGTTCAATATATGAAAATCAATCAAAGCAATCCAT TCTAAAGATGTAAAACCCCATGGTATGGTTTGAATACATCCTCCAAAGTT CATGTGTTGGAACTTAATCTCCAATGCAACAGTATTGAGAGGTGGGACCT TT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	220	0.0045	-701	c.98- others(15): Show c.98-5811_98-5111del	PFKFB1	ENSG00000158571.11	transcript	ENST00000375006.8	protein_coding	1/13			chrX	TogoVar
RPL36_chr19_5685295_5696875	5688859	TTCAAGCG others(694): Show TTCAAGCGATTCTTGTGCCTCAGCCTCCCAAATAGTTCAGATTACAGGTG TGGGTCACAACGCCTGACTTTTTGTATTTTTAGTAGAGACGGGGTTTTAC CATGTCGGCCAGGCTGGTCTCGAACTCCTAGCCTTAGGTGATCCCCCTGT CTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTCAGCCACTGCACCCGGC CACAAACAAATATTTTAATTAAAAAATTAGCCAGGCGTGGTGGCATGTGC CTGTGGTCCCAGCTAAGGAGGCTAAGGCAGGAGGATCACTTGAGCCCTGG AAGTCAAGGCTACAATAAGCTATGATTACAGCAGTGCACTCTAGCCTGGG CGACAGAGCAAGACCCTGTCTGGAAAAAACATGAAAGCGCTAACCCTAAT TAGAGCAGCCCTAAATTGAGACTCTCTTCTTGTATATTAGTAGCATTAAA GGAGAAAAACTGGAAACTTGTGTGTTTCTGCCACCCGATTCAGTTATTTA GCGTCCCGTCCCTACACCACCTAAATTACATCAGATGTCCGCAAGGGGCA CTATTACACGTTGCTGTATTCAGACCTAGTCTAGAGCTTGACCAATTGAT AACAAAACCAATACCTTTTTTTTTAAATGGAGTTTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCTTGG GC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-701	c.-14 others(10): Show c.-1470_-770del	RPL36	ENSG00000130255.13	transcript	ENST00000347512.8	protein_coding		1435		chr19	TogoVar
ARHGAP15_chr2_143124419_143773352	143210262	GAAATTTC others(693): Show GAAATTTCTTGAGATACAAAAAGGGTGCCTTCCTCAGCCTGTTTCCCAAA CAGAACCTGGATTCCTTGGTGGTGACCAAATGAACACACCGGTTGCCAGA TGAAAGGTTCAGAAAAAAAGTCGTATGGGGGTTCTTAAACATCAAATAAT AACATTTTCAAAATGACATTTTGATGAGTTAGGGGTGAATAAATCAGAGA CATACAGATAAAATTTCCCTTGAAATACACAGAGGTTTAACATGATGGGG AAAAGCACTTGGCAAAACATAATATGTGCTTTGCCAAACCTAATATTTGA AAAATGGTTTAAGACATTCAGCATAACCCCAAAGCTGGACATGTTGTCTT ATCCTAAGTGAGAGAAAGTAAGGGAGGGAGGCTACCCATGAAAACATTGC TCAACAAACTTATTAAAGAATATAAATAAGTTGAAATGAGTAAACCATGC CTAAATCTGAAATCAAATTTCATGCTGAAATCAAACACGCTTATCAAGGA CCTCTTTGAGAATTCTTGGTGACCTCTTTCTATCACCACTTATGTATGAC CCAGAACCATTCTTTGCTTTTCTTCTACTCTTCTTCACATGCAATCATTG CATCCAACTTTAGATATTTGGTTTACCACTTCTTAAAAATGTGCACACAC AGTAAATGATGTATTTACATCAGACAAAAACATCATACTGAATCTATGTC T	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	160	0.0125	-700	c.235 others(17): Show c.235-6118_235-5419del	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNN2_chr19_1021608_1044065	1034286	CGGTGTCT others(693): Show CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCT GGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGC GTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACG GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC ATGGGTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG G	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0058 a0001c0001t0011g0058	1	388	0.0026	-700	c.390 others(17): Show c.390+1591_391-1144del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
CROCC2_chr2_240901336_240998311	240907691	GTGGGGTG others(693): Show GTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC CTCGGGTGACCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCAC CTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCAC CTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC CTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC CTCGGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCAC CTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC CTCAGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC CTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC CTCGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC CTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCAC CTCGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC CTCGGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC CTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCAC C	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19079.hp1 NA18960.hp2 NA19079.hp1	a0005 a0058 a0005 a0058	a0005c0005 a0058c0084 a0005c0005 a0058c0084	a0005c0005t0001 a0058c0084t0001 a0005c0005t0001 a0058c0084t0001	a0005c0005t0001g0093 a0058c0084t0001g0092 a0005c0005t0001g0093 a0058c0084t0001g0092	2	265	0.0075	-700	c.78+ others(15): Show c.78+1127_78+1826del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240907975	CCTCTACC others(693): Show CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA G	C C	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	247	0.0040	-700	c.78+ others(15): Show c.78+1409_78+2108del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908450	CCTCTACC others(693): Show CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA G	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01978.hp2 HG02300.hp2 others(7): Show HG01952.hp2 HG01978.hp2 HG02300.hp2 NA18953.hp1 NA18964.hp2 NA18965.hp1 NA19000.hp1 NA19002.hp1 NA19070.hp1 NA19079.hp2	a0001 a0007 a0010 others(1): Show a0001 a0007 a0010 a0033	a0001c0001 a0007c0007 a0010c0010 others(1): Show a0001c0001 a0007c0007 a0010c0010 a0033c0049	a0001c0001t0001 a0001c0001t0003 a0007c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0007c0007t0001 a0010c0010t0001 a0010c0010t0003 a0033c0049t0001	a0001c0001t0001g0191 a0001c0001t0003g0198 a0007c0007t0001g0192 others(7): Show a0001c0001t0001g0191 a0001c0001t0003g0198 a0007c0007t0001g0192 a0007c0007t0001g0196 a0007c0007t0001g0201 a0010c0010t0001g0203 a0010c0010t0003g0186 a0010c0010t0003g0194 a0010c0010t0003g0199 a0033c0049t0001g0200	10	341	0.0293	-700	c.78+ others(15): Show c.78+1877_78+2576del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTDP1_chr18_79674803_79759503	79745234	TGCGTCCC others(693): Show TGCGTCCCTCCCATGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTC TGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGC GCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTC CCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCG TCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTC CCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGGGT TCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGT GCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCC TCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCG CGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTG TGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGC GTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCC GTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTC CCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTGCC C	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01433.hp2 HG01515.hp2 others(19): Show HG01123.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG02300.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp1 HG03486.hp1 HG03654.hp1 HG04184.hp1 NA18984.hp1 NA18986.hp1 NA19067.hp1 NA19077.hp1 NA20905.hp1	a0001 a0012 a0013 a0001 a0012 a0013	a0001c0003 a0001c0008 a0001c0016 others(2): Show a0001c0003 a0001c0008 a0001c0016 a0012c0026 a0013c0027	a0001c0003t0001 a0001c0003t0002 a0001c0003t0014 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0014 a0001c0008t0001 a0001c0016t0001 a0012c0026t0001 a0013c0027t0001	a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0035 others(19): Show a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0041 a0001c0003t0001g0052 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0003t0001g0367 a0001c0003t0002g0104 a0001c0003t0014g0064 a0001c0008t0001g0200 a0001c0016t0001g0062 a0012c0026t0001g0063 a0013c0027t0001g0042	22	376	0.0585	-700	c.274 others(19): Show c.2748-8406_2748-7707del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP4F11_chr19_15907377_15939529	15933223	AGGAGAGG others(693): Show AGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAA TGAGTGAGCGAGAAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCG G	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 HG02258.hp2 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0016 a0003c0003 a0003c0016	a0003c0003t0053 a0003c0016t0021 a0003c0003t0053 a0003c0016t0021	a0003c0003t0053g0072 a0003c0016t0021g0073 a0003c0003t0053g0072 a0003c0016t0021g0073	2	164	0.0122	-700	c.198 others(15): Show c.198+288_198+987del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241766356	GTGGGGAG others(693): Show GTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAC TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG T	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0078 a0002c0002t0008g0078	1	357	0.0028	-700	c.130 others(18): Show c.1307-1305_1307-606del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXN3_chr14_89151177_89422233	89360739	GCACCACC others(693): Show GCACCACCTCCACCACCACCTCCACCACTACCACCTCCACCACCACCTCC ACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCAC CTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCT CCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACC ACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACTACCACCTC CAGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTCCA CCACCACCACCTCCAGCACTACCTCCAGCACCACCTCCACCACCACCACC TCCAGCACCACCACCACCACCACCTCCACCACTACCACCTCCAGCACCAC CTCCACCACCACCACCTCCAGCACTACCTCCAGCACCACCTCCACCACCA CCACCTCCAGCACCACCACCACCACCTCCACCACCACCACCTCCACCACC ACCACCTCCAGCACCACCTCCACCACCACCACCACCTCCACCACCACCAC CTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCA CCACCTCCAGCACCACCTCCACCACCACCTCCAGCACCACCTCCACCACC ACCACCTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCTCCTA C	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0219 a0001c0001t0006g0219	1	218	0.0046	-700	c.544 others(18): Show c.544-10631_544-9932del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
HSD17B14_chr19_48808018_48841491	48834374	AGCTGGGA others(693): Show AGCTGGGAGCCTGGACCCCTGGGTCTCAGGGAGGAGGGGTTGGGGACTTG GACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCC TGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGAC TCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTG GGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG T	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0281 a0001c0001t0001g0282	2	392	0.0051	-700	c.128 others(14): Show c.128-716_128-17del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834528	GGCCTGGA others(693): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGG CCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTC CGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGG GCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGA GGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCT GGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGA AGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGG A	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	379	0.0026	-700	c.127 others(15): Show c.127+577_128-171del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834374	AGCTGGGA others(693): Show AGCTGGGAGCCTGGACCCCTGGGTCTCAGGGAGGAGGGGTTGGGGACTTG GACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCC TGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGAC TCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTG GGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	2	298	0.0067	-700	c.22 others(11): Show c.2215_*2914del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2722		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834528	GGCCTGGA others(693): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGG CCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTC CGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGG GCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGA GGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCT GGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGA AGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	285	0.0035	-700	c.20 others(11): Show c.2061_*2760del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2568		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	165803	CTCTGATG others(693): Show CTCTGATGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACA GTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGG GCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCT GACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCAGGGCTCACACTAA TGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCA CACTAATGCTCTGACGGGACGGGGCTCACACTAATGCTCTGACGGGGCGG GGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCT CTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGT AATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCT CACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATC T	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0149 a0001c0007t0009g0149	1	208	0.0048	-700	c.347 others(19): Show c.3476+2261_3477-2832del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD51B_chr14_67814779_68483093	68136314	ACCTGTAA others(693): Show ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGGTGGATCACGA GGTCAAGAGATCGAGACCATCCTGTCCAACATGGTGAAACCCCATCTCTA CTAAAAATACAAAAATTAGCTGAGCATGGTGGCACATGCCTGGAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAG GTTGCAGTGAGCTGAGATCACACCACTGCACTGTAGTGTGGTGACAAATG AGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTAGACCAG CCATACTTTTAAAAGCTTATTGTAACAAACACATACTGCTTATTCCATGC TGGTGTGTTTTGTGTTCTTTGCAAATGTTAACTAATTAAATCCTGACAAT AAACCTATTAAGATAGATATTATTAACCTCATTTTACAGATGATGAAACT GAGACAGAGGGAGACTAGATAACATGCCCAAGGTCATACAGTTAATAAGT GGCAGAACCAGGGTTCAAAACCAGTCCAGAGGCTATGCTCTTAACCACTA TACAATGGTCCCATATTGTAGTTAATCAGGTATTTTTCCATATAACACAA TAAAAGCATTGAACTGGGATTTTCCTATATTTGAGAAAACAGTATGGAAA TAACAGATGGAGGTATAGAAGTTTTTGATAAGCTAGGCATGTTGGCTCAT G	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp2 HG01175.hp2 others(30): Show HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp2 HG01261.hp1 HG01981.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02572.hp2 HG02615.hp2 HG02735.hp1 HG02809.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp1 HG03831.hp1 HG03942.hp2 HG06807.hp2 NA18906.hp1 NA19012.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0005t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0002g0027 a0001c0001t0003g0038 a0001c0001t0004g0029 a0001c0001t0005g0033 a0001c0005t0001g0009 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047	33	84	0.3929	-700	c.757 others(21): Show c.757-155542_757-154843del	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD11_chr1_918923_949574	933980	AGGGGAGG others(693): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCG GCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGG GCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGC TCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC G	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	427	0.0023	-700	c.843 others(17): Show c.843-1779_843-1080del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934036	AGGGGAGG others(693): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGG GAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGG GCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC G	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02135.hp1 HG02698.hp1 others(5): Show HG00673.hp2 HG02135.hp1 HG02698.hp1 HG02738.hp2 HG03239.hp2 HG04199.hp1 HG04228.hp1 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0006 a0001c0001 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0004t0001 a0003c0006t0002 a0001c0001t0001 a0001c0004t0001 a0003c0006t0002	a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0084 others(5): Show a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0004t0001g0104 a0003c0006t0002g0259	8	405	0.0198	-700	c.843 others(16): Show c.843-1667_843-968del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934133	GCGTTACA others(693): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCA GGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGG TGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTA CAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT C	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	408	0.0025	-700	c.843 others(16): Show c.843-1624_843-925del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291347	ATGTCCCT others(693): Show ATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCC CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCC CTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCA CCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCC CTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCC G	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0163 a0008c0024t0001g0163	1	267	0.0037	-700	c.121 others(18): Show c.1214+452_1214+1151del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238657	TCCCCTCT others(692): Show TCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTC CCTGCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCG GTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTCACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTC CCCTCTCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0081 a0001c0001t0056g0081	1	103	0.0097	-699	c.136 others(19): Show c.1361+2775_1361+3473del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133135959	TCTGGTCT others(692): Show TCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTGGGG GGGTCTGGTCTCTGGGTACCTGTGGGGGCAGCTGGTCTCTGGGTCCCTGT GGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTTGTCTCTGGGTC TCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGAGGCGGCTGGTCTCTG GGTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCT CTGGGTCTGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTG GTCTCTGGGTCCCTGTGGTGGGGGGGGGTCTCTGGGTCCCTGTGGGGGCG GCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGT GGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGT AGGGGTTCTGGTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCC TGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGG GTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTC TGGGTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGT CTCTGGGTCCCTTTGGGGGGGTCCTGGTCTCTGGGTCCCTGTGGGGGCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01258.hp1 HG02083.hp1 others(8): Show HG01169.hp1 HG01258.hp1 HG02083.hp1 HG02273.hp1 HG02300.hp1 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0017 others(2): Show a0001c0003 a0001c0004 a0001c0017 a0001c0019 a0001c0023	a0001c0003t0004 a0001c0003t0009 a0001c0003t0015 others(6): Show a0001c0003t0004 a0001c0003t0009 a0001c0003t0015 a0001c0003t0026 a0001c0003t0069 a0001c0004t0009 a0001c0017t0015 a0001c0019t0004 a0001c0023t0009	a0001c0003t0004g0007 a0001c0003t0004g0073 a0001c0003t0004g0198 others(8): Show a0001c0003t0004g0007 a0001c0003t0004g0073 a0001c0003t0004g0198 a0001c0003t0009g0296 a0001c0003t0015g0066 a0001c0003t0026g0199 a0001c0003t0069g0167 a0001c0004t0009g0320 a0001c0017t0015g0041 a0001c0019t0004g0150 a0001c0023t0009g0308	11	365	0.0301	-699	c.64 others(11): Show c.6449_*7147del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4285		chr10	TogoVar
IL3RA_chrX_1331785_1387689	1374473	CTAAGACA others(692): Show CTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGG GACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAG AGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAGACCTCC AGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCA GCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATA AGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGACA CAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAAC CAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGG AGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGA CAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACA GACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTC TCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTG GATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGT TTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGAG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	113	0.0088	-699	c.875 others(17): Show c.875-4124_875-3426del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
NKD2_chr5_1003802_1043943	1022724	TTTGTCCC others(692): Show TTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTA GTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTC CCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCGTCTCAGCCCGT TGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCGTTGTCCCTGC TCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCAC CCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCATCCCAG CCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTC CCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTT CCCACCCGCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTC TGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	259	0.0039	-699	c.142 others(17): Show c.142-9398_142-8700del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NOC4L_chr12_132139457_132157468	132149661	ACTCCTAC others(692): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	203	0.0049	-699	c.901 others(15): Show c.901+770_902-618del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149666	TACCACAC others(692): Show TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	184	0.0054	-699	c.901 others(15): Show c.901+801_902-587del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149881	ACTCCTAC others(692): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	197	0.0051	-699	c.901 others(15): Show c.901+990_902-398del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTUD7A_chr15_31470398_31875673	31510838	TATGTATA others(692): Show TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATA TCTATATGTAACATATATGTATATCTATATGTAACATATGTATATCTATA TGTAACATATGTATATCTATATGTAACATACATGTATATCTATATGTAAC ATACATGTATATCTATATGTAACATACATATATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACACACATATGTATATCTATATGTAACACACATACATATGTATATCTATA TGTAACACACATACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATA TATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAA CACATATATATGTATATCTATATGTAACACACACATATATGTATATCTAT ATGTAACACACACATATATGTATATCTATATGTAACACACACATATATGT ATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0101	1	235	0.0043	-699	c.894 others(17): Show c.894-7719_894-7021del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
ATAD3B_chr1_1466765_1502848	1473694	CCACCTTG others(691): Show CCACCTTGGCCAGGGTGGTCTTGACCACCTGACCCCGTGATCCACCCGCC TCGACCTCCCAAAGTGATGAGATTACAGTCCTGAGCCACCGCACCCTGCC AGCAGGGGTTCCTTTTTAGAAAGAAGATCATTTAGGGAATCCCTGGTGTG AAGCAGATATAAACAGAGTTTCCCTGTTTAAGGAGGGATGGCCTGGTGGT ACTTGTGGTTCCATCCTGTGCCCTTCCCCGGGGTGCTGGGGAACATCCTG AGCTGAGGTTTCTGGCCCCGGCTGGGTCTCATAACCCCAGAGGGACATTC AGGTTTGGGCCCAGGCCCAGGCTAACATGGATAGTCCTAGCTGGGCACCA CCGACAGTGCGTGTTCTGTTTTGAAGAGATGGGGTCTTGCTTTGTCGCCC AGTCTGGCCTTGACCTCCTGGGTAAAAGCCGTCCAACCGTCTCAGCCTCC TGAGGAGAGGGGACTGCAGGCTTGCTCGGTAATTTTTCTTTTTTCTTTTC TTTTTTTCTTTTTTTTTTTGACGGAGTCTCGCTGTCGCCCAGGCTGGAGT GCAGTGGCGTGATCACGGCTCACTGCAAGCTCCGCCTCCTGGGTACACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCCCGCCG CCACGCCCGGCTAATTTTTTGTATTTTTTTTAGAGACCGGTTTTCACCA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	274	0.0036	-698	c.205 others(17): Show c.205+1606_205+2303del	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	1/15			chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1473694	CCACCTTG others(691): Show CCACCTTGGCCAGGGTGGTCTTGACCACCTGACCCCGTGATCCACCCGCC TCGACCTCCCAAAGTGATGAGATTACAGTCCTGAGCCACCGCACCCTGCC AGCAGGGGTTCCTTTTTAGAAAGAAGATCATTTAGGGAATCCCTGGTGTG AAGCAGATATAAACAGAGTTTCCCTGTTTAAGGAGGGATGGCCTGGTGGT ACTTGTGGTTCCATCCTGTGCCCTTCCCCGGGGTGCTGGGGAACATCCTG AGCTGAGGTTTCTGGCCCCGGCTGGGTCTCATAACCCCAGAGGGACATTC AGGTTTGGGCCCAGGCCCAGGCTAACATGGATAGTCCTAGCTGGGCACCA CCGACAGTGCGTGTTCTGTTTTGAAGAGATGGGGTCTTGCTTTGTCGCCC AGTCTGGCCTTGACCTCCTGGGTAAAAGCCGTCCAACCGTCTCAGCCTCC TGAGGAGAGGGGACTGCAGGCTTGCTCGGTAATTTTTCTTTTTTCTTTTC TTTTTTTCTTTTTTTTTTTGACGGAGTCTCGCTGTCGCCCAGGCTGGAGT GCAGTGGCGTGATCACGGCTCACTGCAAGCTCCGCCTCCTGGGTACACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCCCGCCG CCACGCCCGGCTAATTTTTTGTATTTTTTTTAGAGACCGGTTTTCACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0094 a0002c0006t0094	a0002c0006t0094g0054 a0002c0006t0094g0054	1	408	0.0025	-698	c.51 others(11): Show c.5165_*5862del	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding		3532		chr1	TogoVar
CH25H_chr10_89200629_89212317	89203984	TCCTGCTC others(691): Show TCCTGCTCTCCCAGGGCTTGCTTAGACTGGCCTTGCTCTACCTCCCCTGG CTTTCTCCCCTACCCAGGCAGAGGCTTTGGCAGCCATGTGGAAGTGAAGT AGTGGGCCAGGGTAACACTGTTTTAGGGGTAGTAACAAAGGAGGAACAAC AGAGGGAGGCCATTTGTTGGTGTTGCAGGGTTTGCAGCTCTCTGGCAGTT ATCAGAAGAGAAGCACAGTATACACCACCAGACCTAAGTTTAGTAGAACT GGCTCCCACTCCTCCTATTTTGTAATCTGGAAAAAAGTACTTAACCTGTG TGGGTACCAATCCTCTATCCATAACAGAGGTGATGATGATAATAGTAACT ATTCTACATCCCTATGGTGTTGTTGTAAGGAGCAAGTGAGAAATTGTGTG ACAGCGCATGCGCATATGAACTTTTTCTTTACTATTTTTATTAACAGGTT CTCAAGCTATCTGAAAAATTGCTCATCCTTTCCACTTCCGCGGTTCTACC TCCCAAGGCATTAAAAACTGTTAAGACATTCGATTGTAAGAAAGTATTTC TAAATCCAAATTGTGCACTTTCCATGTGTATAATTTGCCCAAAATCTAAA ATTACCTTATGCAGTGATGCAACATGATACATTTTTACAATTCTCTGAGG ATACGCTGTGATAAATTGTTATTATCCATGATTTACAGGGCAGCTTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	382	0.0052	-698	c.17 others(11): Show c.1792_*2489del	CH25H	ENSG00000138135.7	transcript	ENST00000371852.4	protein_coding		1644		chr10	TogoVar
DAGLB_chr7_6404129_6452954	6415781	GTTGCAGT others(691): Show GTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAG CAAGACTCCGTCTCAAAAAAAAAAAAAAAAGTAATTTTCAAACTCATAAA AATGTCTTTAAACATGTGCATTATGCATGTGTCCCCACCCAGGGCATATG CCCCCCGAGAGGGCGGAGGGAGTGCTCAGCATACTACGGGCTCTGGGCGA TGTGCCTACCAGGCGCATGGATGTCAACAACCGGACCCCTCTGCCAGGGC TGTGAGAATGGGGGAGGTTGTGCTTGCTTGTGGGGAGGGAGGGTATGAGA GATCCCTACAATCTGCTGCTCAGTTTTGCTGTCAGCCTAAAACTGCTCTA AAAAATAAAGTCTGTTTGAAAAAAGACTCTTAGAATTAAATCATTGAGGA AATTACAGGTATGGTCACATAGGTCTAAGAAAGGCTAGACAGACTTTCTT CTGTGAAATAGCGCTTCAAAACACAAACCTCAGCTGGGTGCGGTGGCTCA CGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAG GTCAGGAGATCAAGACCAGCCTGGCCAACATGGTGAAACCCCACCACTAC TAAAAATACAAAAATTAGCCGGCATGCTGGCGGGTGTCTGTAGTCCCAGC AACTCGGGAGGCTGAGGCAGAAGAACCGCCTGAACCTGGGAGGTGGAGC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	377	0.0027	-698	c.142 others(17): Show c.1427+148_1427+845del	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	11/14			chr7	TogoVar
GP6_chr19_55008705_55043264	55040878	ACACTCTG others(691): Show ACACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTTGAG ACCAGCCTGACCAACATGGAGAAACGCCATCTCTACTAAAAATACAAAAT TAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGATACTCAGGAGGCTG AGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTAA AATAAATAAAAATAAAACATTTGTTTTTTGTAGAGTTGGGGTTTCACTAT GTTGCCCAGGCTGGTCTTGAACTCCTCCTGGGCTCAAGCAATCCACCGAC CTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGC CCTATTGGGTCCTTTTAAAAGATACATAAAAAATCAAATGCAACAGTGAA GTCAATCACCCGATGGCAGAAATTGGGGTGCTCCTGGCATGTGGTCGGTC GAAGCCAAGGACACTGCTCAGCATTCTGCAGTGCACAGGACGGCCCCGCC CAGGCGGAGAATGATCCGGTGACACATATAGGTGGGAAGGATGCACGAAT GATGGCGTTTAGGAAGAATATTATCACTTCTTTCCCGTAAGAGCAACTTA GAGCAAGAAAATGGTATTATTCTTAGGGCCTTCTCTCTTATGGAGGCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	440	0.0023	-698	c.-33 others(11): Show c.-3340_-2643del	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding		2615		chr19	TogoVar
LMF1_chr16_848634_975984	953276	CGTCCACA others(691): Show CGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC CACCCCAAACCAGCTTCCTACACGTTCACACAGACACGGACCCCAAACCA GCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACG TTCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGACA CCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGC CTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACA CAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAA ACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATG TCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACA CCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAAC CAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACA TGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGA CACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCA GCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0061 a0008c0061	a0008c0061t0003 a0008c0061t0003	a0008c0061t0003g0212 a0008c0061t0003g0212	1	284	0.0035	-698	c.503 others(16): Show c.503+383_503+1080del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953340	TTCCTACA others(691): Show TTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTC CACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACG GACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATCCA CACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAAC CAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTACA CGTCCACACAGACACCCCAAACCAGCCTCCTACATGTCCACACAGACACC CACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCA GCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATG TCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACA CCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGC CTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGTC CACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACC CCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03688.hp1 HG03942.hp2 HG02738.hp2 HG03688.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105	3	122	0.0246	-698	c.503 others(16): Show c.503+319_503+1016del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
NOC4L_chr12_132139457_132157468	132149329	CCCCTCGG others(691): Show CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAAT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	292	0.0034	-698	c.901 others(15): Show c.901+438_902-951del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRIP1_chr21_14956235_15070000	15030875	GTACACTC others(691): Show GTACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGT GTACACTCTGGAAGGCACTCAGAGGATCACCACATTCCCTTTCTATGTGT GTACACTCTGGAAGGTGTTCAGAGGTTCACCACATTCCCTTTCTATGTGT ATACTCTGGAAGGCGGTTGGAGGTTCACTACATTCCCTTTCTATGTGTGT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCACGGAGGATCACCACATTCCCTTTCTATGTGTGT ACACTCTGGAAGGCGTTCAGAGGTTCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGTGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTGTGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTAT ACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTGT ACACTCTGGAAGGCGTTCAGAGGTTCACCACATTCCCTTTCTATGTATAT ACACTCTGGAAGGCGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0274 a0001c0002t0031g0274	1	383	0.0026	-698	c.-45 others(21): Show c.-458+11922_-458+12619del	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
PCDH15_chr10_53797771_54806231	53832019	CTAAGATT others(691): Show CTAAGATTTCAGACTCAAACTCTGTATTTGTTTGCCATAACACCATCTTA AAAGTAAACATTCTCAAGTTTCAAACCAAAAGAATGTTTTATGGTCAAAT GGTGAAGACATTTAAAAGACCCTTCTGCCTAGGAAAAAAAGACTAAATAA ATGATGCGAGTAGTATATCAGTGTTGTAAGAATGACAGGAAGTGGTAGTC AATGTAATTCCTTCCTCTAAATAATGCAATTCCAACTATGAGTCTTGAAT TTTGGAAGAGAATCAAGGAATAATTATTCCTAATCTTATGAGATTGAAAA AATTTGTTATGTATTTAATATCATAATTAGCAGGTGATTTTTTAAACAAT TCCTTGGGAACTTTTGAACAGTCCCTTATAAGCTCTACATATTGATGCAG CAACTGTGTTCTTAATACAACAACACCATAAAGGTCAAACGTCTTACTAT AGAATATTGGAAAACAAAAATAGTTCAAGAAAAACACAATTACTCATAGT CCCATGATCTACAGACAGTCATAATCACTTCTAACATCTTGGTATATTTA AGTCTAATATTTTTTTGGAGGGGTGATATTAAATATTTTATATACTTGAG TATACTGCATATATAAAGTGCTTATGTTGAAAAATACAGAAAACACAAAA AAATGCAAAAGAAAAAATTAAAATGGCCCTAAATTTCATTATCAAAATA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0034 a0002c0002t0023g0034	1	100	0.0100	-698	c.398 others(18): Show c.3984-1184_3984-487del	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	29/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53832019	CTAAGATT others(691): Show CTAAGATTTCAGACTCAAACTCTGTATTTGTTTGCCATAACACCATCTTA AAAGTAAACATTCTCAAGTTTCAAACCAAAAGAATGTTTTATGGTCAAAT GGTGAAGACATTTAAAAGACCCTTCTGCCTAGGAAAAAAAGACTAAATAA ATGATGCGAGTAGTATATCAGTGTTGTAAGAATGACAGGAAGTGGTAGTC AATGTAATTCCTTCCTCTAAATAATGCAATTCCAACTATGAGTCTTGAAT TTTGGAAGAGAATCAAGGAATAATTATTCCTAATCTTATGAGATTGAAAA AATTTGTTATGTATTTAATATCATAATTAGCAGGTGATTTTTTAAACAAT TCCTTGGGAACTTTTGAACAGTCCCTTATAAGCTCTACATATTGATGCAG CAACTGTGTTCTTAATACAACAACACCATAAAGGTCAAACGTCTTACTAT AGAATATTGGAAAACAAAAATAGTTCAAGAAAAACACAATTACTCATAGT CCCATGATCTACAGACAGTCATAATCACTTCTAACATCTTGGTATATTTA AGTCTAATATTTTTTTGGAGGGGTGATATTAAATATTTTATATACTTGAG TATACTGCATATATAAAGTGCTTATGTTGAAAAATACAGAAAACACAAAA AAATGCAAAAGAAAAAATTAAAATGGCCCTAAATTTCATTATCAAAATA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0031 a0002c0002t0009g0031	1	92	0.0109	-698	c.398 others(18): Show c.3984-1184_3984-487del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	29/32			chr10	TogoVar
RDH13_chr19_55039316_55068148	55040878	ACACTCTG others(691): Show ACACTCTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTTGAG ACCAGCCTGACCAACATGGAGAAACGCCATCTCTACTAAAAATACAAAAT TAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGATACTCAGGAGGCTG AGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTAA AATAAATAAAAATAAAACATTTGTTTTTTGTAGAGTTGGGGTTTCACTAT GTTGCCCAGGCTGGTCTTGAACTCCTCCTGGGCTCAAGCAATCCACCGAC CTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGC CCTATTGGGTCCTTTTAAAAGATACATAAAAAATCAAATGCAACAGTGAA GTCAATCACCCGATGGCAGAAATTGGGGTGCTCCTGGCATGTGGTCGGTC GAAGCCAAGGACACTGCTCAGCATTCTGCAGTGCACAGGACGGCCCCGCC CAGGCGGAGAATGATCCGGTGACACATATAGGTGGGAAGGATGCACGAAT GATGGCGTTTAGGAAGAATATTATCACTTCTTTCCCGTAAGAGCAACTTA GAGCAAGAAAATGGTATTATTCTTAGGGCCTTCTCTCTTATGGAGGCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0169 a0001c0001t0009g0169	1	376	0.0027	-698	c.34 others(11): Show c.3498_*4195del	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		3437		chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291236	GCCCTCCG others(691): Show GCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTC CCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGT CCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTG TCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGT CCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCA TGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCC CTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCC TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTG TCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGG GAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCC ATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG03516.hp2 others(2): Show HG02055.hp2 HG02258.hp1 HG03516.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0057 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0220 a0001c0004t0002g0010	5	277	0.0181	-698	c.121 others(18): Show c.1214+565_1214+1262del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
CNTN5_chr11_99015949_100363885	99680443	TCTGTAAA others(690): Show TCTGTAAATGAAATTACAAAGTGTGGATGACAGCACATCTGTTTATAGCA TGGTTTACTGAATATTTTAAGCCCACTGTCGAGATTTAATGCTCAGAAAA AAAGACTCATTTCAAAACATGACGGCTCATTGACAGCATCCCTGGTTACC CAAAGGCTCTGATGGAGATGCACAAGGTGATGAATTCTATTTTCATGCCT ATTACACAACATCCATTCCATGAATCTTGAATGTTCTTAATGGCATCTAG AGTGGTGAATCCTTATCAGAAGGTTTTTACCTTACTTTGCCCAGGAATAT TAGAAGAATCACCGGCTGTAGCTGTATGGCAGCTATAGTCTTATGCAACA TATTTCTTAATAAAACTTCAAAATCAAAATTACTCCTTGATCCATAGCCT GTGATTCTGCTGATGTTCTTATGCAAAGTAAATTAAAAACCTTTTGATAA GGATTCACCACTCTAGATGCCATTAAGAACATTCAAGATTCATGGAAGGA GGTCAAAATAGCAACATTAACAAGAGTTTAGAAGTTGATTTCAATCATTA TGAGTGACTTCAGTGGAAGAAGTAACTGAAGATGTAAAAATATCAAGAAC TAGAATTAGAAGTGGAGTCTGAGGATGTGACTGAATTGCTACAATCTCAT GATAAAACTTGAACGGATGAAGAGTTGCTTATTATTGGTGAGAAAGAA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	66	0.0152	-697	c.55+ others(19): Show c.55+124175_55+124871del	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24			chr11	TogoVar
ECSCR_chr5_139443560_139467743	139452659	GNNNNNNN others(690): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	2	0.5000	-697	c.512 others(17): Show c.512+1246_512+1942del	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	8/9			chr5	TogoVar
EXOC2_chr6_480154_698139	675519	AGAAAGGA others(690): Show AGAAAGGACAGGTTCCTCTGGAGACTCTGAGGTTCCCCATACTCTTCAAC ATTACGGAAAGGACAGCCTCCTCTGGCAACTGCGGTTCCCCATACTCTTC AGCATTACAGAAAGGACAGGTTCCTCTGGCGACTGCAGTTCCCCATACTC TTCAACATTACGGAAAGGACAGGTTCCTCTGGAGACTGCGGTTCCCCATA CTCTTCAACATTACGGAAAGGACAGTTTCCTCTGGAGACTGCGGTTTCCC ATACTCTTCAACATTACAGAAAGGATAGGTTCCTCTGGAGACTCTGAGGT TCCCCATACTCTTCAACATTACGGAAAGGACAGCTTTCTCTGGAGACTGC GGTTCCCCATACTCTTCAACATTACGGAAAGGACAGTTTCCTCTGGAGAC TGCGGTTTCCCATACTCTTCAACATTACAGAAAGGACAGGTTCCTCTGGA GACTCTGAGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGCCTCCT CTGGCAACTGCGGTTCCCCATACTCTTCAGCATTACAGAAAGGACAGGTT CCTCTGGCGACTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAG GTTCCTCTGGAGACTCTGAGGTTCCCCATACTCTTCAACATTACGGAAAG GACAGGTTCCTCTGGAGACTGCGGTTCCCCATACTCTTCAACATTACG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0208 a0001c0003t0003g0208	1	241	0.0041	-697	c.-44 others(19): Show c.-44+16803_-44+17499del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar

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