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
ROBO2_chr3_77035099_77654964	77289745	ACTGAAGA others(946): Show ACTGAAGACATAAAGTAAAATTGATGGTTAAATGGGTAAGCTGAGGCTAG ATCACCAAAGACATAAAGTAAAATTGACAGTTAAACAGGTAAGCTGAGGC TAGGTCACCAAAGACATAAAGTAAAATTAATGGTAAAACGGGAAGTTGAG CCTAGATCCCTAAAGACATAAAGTAAAATTGATGGTTAAACGGGTAAGCT GAGGCTAGATCACCCCAGACATTAAGTAAAATTGATGGTTAAACGGGTAA ACTGAGGCTAGATCCCTAAAGACATAAAGTAAAATTGACGATTAAATGGG TAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAATTGACGGTTAAAC GGATAAGCTGAGGCTAGATCACCAAAGACATAAAGTAAAATTGATGGTTA AACGGGTAAGCTGAGGCTAGATCACCCAAGACACAAAGTAAAATTGATGG TTAAACGGGTAATCTGAGGCTAGATCACCCCAGACATAAAGTAAAATTGA TGGTTAAACGGGAAGTTGAGGCTAGAACAGTAAAGACATAAAGTAAAATT GATGGTTAAATGGGTAAGCTGAGGCTAGATCACCCCAGACATAAAGTAAA ATTGATGGTTAAACGGGTAAGCTGAGGCTAGATCACTAAAGACATAAAGT AAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCACCCCAGACATAA AGTAGAATTGATGTTTAAATGGGTAAGCTGAGGCTAGAGCACTAAAGACA TAAAGTAAAATTGACGGTTAAACGGGTAATCTGAGGCTAGATCACCCCAG ACATGAAGTAAAATTGATGGTTAAACGAGTAAGCTGAGGCTAGATCACCC CAGACGTAAAGTAAAATTGACGGGTAAACGGGTAAGCTGAGGCTAGATCA CCCAAGACACAAAGTAAAATTGATGGTTAAACGGGTAATCTGAGGCTAGA TCAC	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	160	0.0063	-953	c.389 others(21): Show c.389-187667_389-186715del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNTG2_chr2_945849_1372613	1093913	TTGCAGGC others(946): Show TTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGC AAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCA TATGGTAGAGTTACTGGCAAGGGCCAGCTTCCTGGCTTGCAGGCGAAGGC CTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAAGGGCTGCCTTC CTGGCTTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTA CTGGCAAGGGCCAGCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGT CCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTCCTGGCCTGCAGGCA AAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCGG CTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGA GTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTGTAGGT GTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTCCTGGCCTGCA GGCAAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGG CTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGG TAGAGTTACTGGCAAGGGCCGGCTTCCTGGACTGCAGGCGAAGGCCTTAT AGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGAC TGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCA AGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCAT ATGGTAGAGTTACTGGCAAGGGCCAGCTTACTGGCCTGCAGGCAAAGGCC TTATAGGTGTGTCCTCATGTGGTAGAGTTACTGGCAAGGGCTGGCTTCCT GGGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0143 a0007c0016t0001g0143	1	79	0.0127	-953	c.211 others(17): Show c.211-4147_211-3195del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF516_chr18_76352682_76500242	76392910	AGGCAGGT others(946): Show AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGG GGAG	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0091 a0001c0001t0012g0091	1	301	0.0033	-953	c.181 others(21): Show c.1811-13560_1811-12608del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADD3_chr10_110002984_110140565	110030098	CGGATCAC others(945): Show CGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAA ACCTCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGC TTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCC AGGAGGCGGAGGTTGCGGTGAGCCAAGATCGCACCATTGCACTCCAGCCT GGGCAATAAGAGCGAAACTCCATCTTAAAAAAAAAAAAAAAAGAAAGTGG TGATTATTATGTGATTGGCATTTCTCCACCAATTTCTGAAACCTTCTGAC AGCTGTTACTAGTTATATACTTGTGTATATGTTTGACAAACTGACTGTGA GCTTTTAATATACAGGTGTTTTATAGTAATCTAAGCAACTGGATTCCCTT GGTAACCTAGAGATTTGTGAGATGATTTTAGGTGGCATGGATCTAGGCTA ACCTGTGAAATGGGTATTAGGGTAGATTCTTTGGAATGGGCCCAGGCTTG GTGCCAGAATTATAGAGTTCCACTGACATTATGGTAACCACTAGCTGTGT GTGGCTGTTTATCGCTTGAAATGTGGCTAGTCCTAATTGAGATGTGCTGC AATTATAAAAATATACAGATTTCAAAGACCTAGTACAAGAAAAAGAACAT AAAATAACTTTTTTTAATATATTGATTACATTGGCTACAGCTATTCCAGC TGACTTGGCTCGTCCAATTTGTATTACAGTGCTGTTTTGAGAGCTATTGC CTACAAGCAACCTCTACTCCTTCTCTAACTCTCCCATTGATGAAGTTTAA AAAACGAAACCAAACCACTTGCTCCACCCACTATCTTTAATGGTTGGTGA CTCCTGACCAGCTTCTTGAAAACAGGTGATAAAAATAAATTTGTAAGTCC AGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCA GGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03239.hp2 HG03492.hp1 others(3): Show HG01496.hp1 HG03239.hp2 HG03492.hp1 HG03704.hp2 HG03834.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 others(3): Show a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274	6	286	0.0210	-952	c.-30 others(19): Show c.-30+21832_-30+22783del	ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
FOXQ1_chr6_1307098_1319758	1318806	GCACGCCT others(945): Show GCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCT GAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCAC TACTAAAAATAAAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAA GACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAA TTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAAC ATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCATGGTG GCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCAC CTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTC ACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTC AAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAA AATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACC AACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCG GTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGAT CACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCC GTCACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGT AAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG03041.hp1 others(5): Show HG02647.hp1 HG02809.hp1 HG03041.hp1 HG03098.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp1	a0002 a0004 a0002 a0004	a0002c0005 a0004c0012 a0002c0005 a0004c0012	a0002c0005t0001 a0002c0005t0007 a0004c0012t0001 a0002c0005t0001 a0002c0005t0007 a0004c0012t0001	a0002c0005t0001g0000 a0002c0005t0007g0000 a0004c0012t0001g0000 a0002c0005t0001g0000 a0002c0005t0007g0000 a0004c0012t0001g0000	8	402	0.0199	-952	c.48 others(11): Show c.4891_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4049		chr6	TogoVar
GRTP1_chr13_113319163_113369130	113346291	TCTGGGAG others(945): Show TCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGC CGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACC CAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTG ACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACC TCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACC CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTG AGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTC TGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAG AGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAG CGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGG AGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCA GACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTG GCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAG GACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCG GAC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp2 HG02015.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0229 a0001c0001t0001g0177 a0001c0001t0001g0229	2	176	0.0114	-952	c.466 others(17): Show c.466-2284_466-1333del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
LUC7L_chr16_183990_234449	186315	GACACGGG others(945): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAATACCAACACGGGAGGAACA GCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	348	0.0029	-952	c.19 others(11): Show c.1931_*2882del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2674		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1991224	CGAGCACC others(945): Show CGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTG GCCTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCA CTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGA GCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACC CGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTG AGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGG TGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCC GCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGC TGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAG CACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCT CAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp2 HG01123.hp1 others(4): Show HG00280.hp1 HG01074.hp2 HG01123.hp1 HG01515.hp2 HG02572.hp1 NA18967.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0209 a0001c0001t0001g0236 a0001c0001t0002g0234 others(4): Show a0001c0001t0001g0209 a0001c0001t0001g0236 a0001c0001t0002g0234 a0001c0003t0001g0016 a0001c0003t0001g0036 a0001c0003t0001g0073 a0001c0003t0002g0083	7	262	0.0267	-952	c.141 others(20): Show c.1416+9889_1417-10684del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
CFAP46_chr10_132803392_132947570	132823457	GTGTGTGC others(944): Show GTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGTG TGCTGATGTGTGCTGTGTGTGCTGTGTGCGCTGTGTGCTGTGTGCTGATG TGTGCTGATGTGTGCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATGTG TGCTGTGTGTGTGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTG CTGTGTGCGCTGATGTGTGCTGTGTGCTGATGTGTGCTGATGTGTGCTGT GTGCTGACGTGTGCTGTGTGCTGATGTGTGCTGTGTGCGCTGATGTGTGC TGTGTGTGTGCTGTGTGCTGTGTGTGCACTGATGTGTGCTGTGTGTGTGC TGTGTGCTGTGTGAGTGCTGATGTGTGCTGTATGTTGTGTGAGTGCTGAT GTGTGCTGTCTGTGCGCTGATGTGCGCTGTCTGTGCGCTGTGTGCTGTGT GAGCGCTGATGTGTGTGTGTGCTGATGTGTGCTGTGTGTGCAGTGATGTG TGCTGTGTGAGTGCTAATGTGTGCTGTGTGTGCTGCTTGTTTGTGCTGTG TGTGTGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGATGTGTGCTGTGT GTGCTGATGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGCGGTGATGT GTGCTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTG TGTGCTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTGTGAGTGCTGATGT GTGCTGTGTGTGCTGTGTGTTGTGTGTGCTGTGTGAGTGCTGATGTGTGC TGTGTGCTGATGTGTGCTGTGTGTGCTGAGTGCTGATGTGTGCTGTGTGC TGTGTGTGCACTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAGCGC TGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGT TT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	241	0.0041	-951	c.711 others(19): Show c.7117+8950_7118-8544del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
KCNE2_chr21_34359006_34376381	34368419	CGAAACCC others(944): Show CGAAACCCCGTCTCTACTAAAAATACAAAACATTAGCCAGGCGTAGTGGC GGTTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCACTT GAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTC CAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAACAAAAAATTTTT GCCTTGCAATCGTTTGCCTTGATGTTATGTCTAAAGCCCCACAATTCTCT AAAAACAGAGATGTATAAAAAAGCACACGTATATAATTCTCTGAAAACAG AATATAAATGAGTCATTGCTCCATTTAACTGACATTTGTTGAGTGCTTGT TATAAATATGGCATTATTCTAGCTGGTGTGAGGTTACCAATTTTTTTTAA ACAAAAGTAATATGAATATATACACACACATTTAGTGACTGCATATGTGA TGTGTGCTTTTGAAGAAAAAGGAGATGCTGTTGGAGGAAAATGGTGGTGG TGGTGGGAAGTGATTTAGAGTAGAACCAGGGAAGTCTCAGAAGTGACAAC TAGCTGGAACCTAAAGAACGAGGAGGTAGCAGGTGGAAGAGAAAGGCAAA GGCATTCTAGGTTGAGAGAATAGGATGTGATAATGTCCCGAGGAAAGAGA GCTTACTGACAGGGAGGGAAGATGTCAGGTGTGACCGAACTGTAGTGAGC AAAGGGTAACTGAGGAGGTGGTCAGGAGCCTGCTCAGCCAATGGGGTAAA TACTGTTAAGGAATTAGGACTTGATTTTAAGAACAACCATCGCATCATTT TAAAAGCAAACAAATTGCACTATAATTTCCCTCTTCAAAAAGGCACATTG GCTGTGCACGGTGGCTGACACATGTAATCCCAGCACTTTGGGAGGCTGAG GCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAATGTG TT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0061 a0001c0001t0010g0061	1	432	0.0023	-951	c.-12 others(17): Show c.-12-2031_-12-1081del	KCNE2	ENSG00000159197.4	transcript	ENST00000290310.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr21	TogoVar
OLFM2_chr19_9848718_9941515	9938035	TTTTTTTT others(944): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTC CCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTAC AGGTGTGCGCCATCACAGCCGGCTAATTTTTTGTGTTTTTAGTAGAGACA GGGTTTCACCATATTGGCCAGCCTGGTCTCAAACTCCTGACCTCGTGATC CACCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCAC AACAGGCCACTGTGTATCTCTTTAACCAAGGGATGGAATATTCATGAAAA CTGGAAAAAGGTGGACTGTGGTGCCACCCACTTTTACACCAAATTTGGGT GTCCCTGGAATTGTCAAGGGCGCTGGTGGGTGGGTAATTTTAGTATTTTA ATGAGTACATAATGAGATCCTAGGTGAAACCTAGGTAGAATGTAACGCCA TGTTGGGTCCAGTAGGTCTTAGCCAGCTTGGTCCACACCCTGGTTTTCAG GATCTTATCAGCCCATAGCCTCTAGTCATGTGAAACGGCTGCCTGTGACC ACCCTGGATCATTCCTGTCTCAACCCTACTGGGGATAAAACATGTCGATG ATGGTTTTGTCAGGTCAATGAGAAAGAGCTTGGTGACCCACAGATCTGGG TTCAACCCTGGTGCTGCCACTTCTTGGCCATGTGACCTTAGGGAAAAAGC TTTCCCCCTCTTAGAAGACCTGTTTTTTGCAGTTATTGGGAGACATCTGT GACTCTAAGCAAAGAGAGCACCTAGCTAGCACTCACTCCCCAGCACGCCT TGCAATAACCAACCATGCACTGGGTTGAGGACACTCATCATGGGATGTGG ACACAAAATAGAGTCTGAGCCTGCGAAGACATCCTGTTTATTCTTCTATC TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	340	0.0029	-951	c.-26 others(11): Show c.-2620_-1670del	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding		1521		chr19	TogoVar
USP45_chr6_99427325_99520423	99519472	TATTATTC others(944): Show TATTATTCAGTGAGGCCAAGTATATTGTTTCCCTATCTTGTGTTCATACT ACCTGTGATTTATGATGTATATTTAGAATGAGGATGCCACAGAGACTACA TGAATCTACAGTATATAGTGATATCTTAGTTAAAAGTGAATCCACAAAAT AAATTACACGGAGACTATGGTTAAGCTCCAAATTATTTGGAAAATAATTA TAAATGATGTCATTGGTCTAGAAATCTGAAATGGTTTATAGCTTATTAAA TTATTGATAACTGAAGAATTTAAAAGTAAATGCTTAATGAAATGATTCCT TGGACATACACTTTAATAATGCCATTTAAACATGAATATTTTAATTTTTT TTTTGAGATAGGGTCTCACTCAGTCACTCAGGCTGATCACAGTGCACTAT AGCCTCATACTCCTGAGTTCGGGTGACTCTCCTGCCTTAGCCTGCTGGTA ACTGGGACTACAGGTTGGAACCACAGCACCTGGTCAAATATTTTAATTTT TAACTGTAAATCTATTTGCAGTTAAATATAGCTTTTATTATGTTTGGGAA CCAACCTGAGAATAAATAAAAAATAAGATAATGAGAAACTTTATGTGGTA GTTTTAATAATGACCTCCTGCCCCAAAGATGTTCATGTTCTACAAACCTG AAACTTGTGAATGTGTTACCTTAACTGGCAAAAGGGACTTCGAAGATGTG ATTAAATTAAGTATCTTGAGATGAGAAGATTATCATGGATTATCTCTGTG GTCTGAATGTAAAGGTCCTTATAAAAGAGAGGCAGCAGAATCAGAGGAAG AGAAGGAGCTGTGATAACAGAAGCAGGAGTCAGAATCAGGGATTTGAAGC TCAAAGCTGTTGGCTTTGAAGATGGAGAAGGAGGCCATGAGAGCCAAGGA ATGCAGGCAACCACTACAAGACAGAAAAGACAAGTCAAGAAATTCTACTC TG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0030 a0001c0025t0030	a0001c0025t0030g0271 a0001c0025t0030g0271	1	404	0.0025	-951	c.-50 others(11): Show c.-5042_-4092del	USP45	ENSG00000123552.18	transcript	ENST00000500704.7	protein_coding		4050		chr6	TogoVar
APOBEC1_chr12_7644400_7670908	7647045	TTGATCTA others(943): Show TTGATCTACAGAGGCTCCTCCCTGGGCTAAATTTCCTGCTAAAAGTGCTG TTTTAAAGCTTTAAAATGATTCTACTTCCATAGTTTGCTACTTGAGTGAT ACATGTATTGCTGTGATAAGAACATAGATTGTAATTCCCCTTCCCTGCAA GAGTAGTATGTCACACCTCATCAGACCACACATGTGAGTAATTGACCTCA ACTACTAGACTCCAAAATACATATAAACCCAAGATTTTGACTGACACTTT GACAGCTCAGACTGTGACCTTAGTTAGTTACACAGAAGGCATTTTTATGG TGGACCTTGCCCCCGATCTGTGCTTGCAGCTTGATCTTTCAAGCTGTTTC TTTGTTAGAAAGGAATTCTACCAAGGACATGTCCTAGCTATCTGCCTAAC TGGTACTTTTCACTCTCCTCTCATTCGTAAATTTATTATTTATTTATTTA TTTATGGGGTTTTTTTTGAGATGGAGTTTCACTCTTGTCCCACAGGCTGG AGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCA AGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACGGGCGTGCA CCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACCGCGTTTCACC ATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTCC TCGACCTCCCAAAGTGCTAGGATTACAGGCATGAGTCACCGCGCCCAGCC TCATTAGTAGATTTAATATTATTATAAAGGAGTTATAAATTAGAATTGCT GTTACTCAGCTTATATGAGTAATTGATGAGTAGGCTAAGAGTTTTTTGTA ATTGTGTCTGATTTAGCCCTTCTCATCCTCCTACTAAAAATGATAATATA GCGGTGGTTAATATTATGTTTAGGTTTGAGAAAGAAAATGAACATTTTAT C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp1 others(11): Show HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03486.hp1 HG03579.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 others(11): Show a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0309 a0001c0002t0001g0322 a0001c0002t0001g0345 a0005c0006t0001g0320	14	430	0.0326	-950	c.15 others(11): Show c.1552_*2501del	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding		2354		chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88954514	GCCAAGGC others(943): Show GCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCT GACCCTACCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAA GGCTCCTGACTCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCC TACCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTC CTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCC AAGACTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGAC CCCAGCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCCACCCAAGGC TCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCAC CCAAGGCTCCTGACCCCATCCAAGGCTCCTGACCCCAGCCAAGGCTCCTG ACCCCAGCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAG GCTCCTGACTCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCT ACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGACTCC TGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCCA AGGCTCCTGACCTCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACC TCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGCT CCTGACCCCATCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCAGC CAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCACCCAAGGCTCCTGA CTCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGG CTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGACTCCTGACCCCA C	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0098 a0001c0001t0025g0098	1	281	0.0036	-950	c.151 others(19): Show c.151+21193_151+22142del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC192_chr5_127698391_127946507	127836638	GCAGGCTC others(943): Show GCAGGCTCAACACCATGTGTAAGCCACCAAGGCTTGGGGATAGGACCCAC TGAAGCAATGGCCTTAGCTGTATGTTGGCCCCTTTTAGCTACTTTTGGGA TGCAGGGCACCAAGTCCCAAGGCTGCATAGAGCAGCAGAGGGCCCCTGGA CCAGGCCCACAAAACCAGTTTTCCCTCCTAGGCCTTGGGTCTGTGATGGC AGGGGCTGCTATGAAGGTCTCTGACATGCCCTGGAGACATTTTCCCCATT GCCTTGGTAATTAACATTTGGCTTCTTGTTACTTATGCAACTTTCTGCAA CTTATTAAATTCCTCCTCAGAAAGTGGGCTTTTCTTTTCTACTATATGGT CATGCTGCAAATATTCTAAACCTTTATACTCTGCTTTCCTTTTAAACATA AGTTCCAATTTCAGATCATCTCTCTCAAGTTGAAAGTTCCACAGATCTCT AGGACAGGGGTAAAATGCCACCAGTCTCTTTGCTAAGCATAACAAGAGTA CATTTGTTTCATTTCCCATTGCCTCTACATTTTTGGGTATCTTTATCATA GTACACTACTCTCTGAGATACCAAATTACTGTATTAGTCCTTTTTCACAC TGCTATAAACACATACACAAGACTGGATAACTTATAAAGAAAACAGGTTT AATTGACTCACAGTTCTACATGGCTGGGGAGGCCTCAGGAAACTTACAAT CATGGTGGAAGAGGAAGCAGGCACATCTTATATAGTGGCAGGTGAGAGAG AAGTGCAAGCAGGGTAAATGCCAGATGTTTGTAAAACCATCAGATGTTGT GAGAACTCACTCACTATCATAAGAATAGCATGGAGGAAACGACTCCCATG ATCCAGTCACCTCCCACTAGGTCTCTCCCTCAACACCTGGGGATTATGAT TCAATATGAGATTTAGTGGGGACAAAAAGCCTAACCATATCAGAATGTAA A	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(135): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0002t0001g0023 a0001c0002t0001g0074 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0006t0001g0124 a0003c0005t0001g0106 a0003c0005t0001g0107 a0004c0007t0001g0177	138	232	0.5948	-950	c.411 others(19): Show c.411+38479_412-37948del	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CROCC2_chr2_240901336_240998311	240907850	GCTCTACC others(943): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA C	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0029	1	317	0.0032	-950	c.78+ others(15): Show c.78+1304_78+2253del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPY19L4_chr8_94714900_94798836	94773467	TGTCGCCC others(943): Show TGTCGCCCAGGCTGGAGTGTAGTGGCGTGATCTTGGCTCACTGCAACCTC TGCCTCCCAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTACAGGCATGCGCCACCACGCCCGGCTGATTTTGTATTTTGAGTAGAG ATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGAACTCTTGACCTCAGG TGATCCGCCTGACTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCC ACTGTGCCTGGCCTTGTTTTTGTGTTTTTGAGAGACAGGCTGGGTGTGGC GGCTTACGCCTATAATCCCAGCAATTTGGGAGACGGAGGCAGATGATCAC TTGAGCCCAAGAGTTTGAAACCAACTTGGGCAACATGGCAAGACCCCATC TCTACAAAAAAAAAAAAAAAAAGCCAGGCATGGTGGCATGCGTCTGTGGT CCCAGCCACTATGGAGGCTGAGGTGGATGGATTGCTTCAGCCTGGGAGTT TTAGGCCACAGTGAGCCATGATCACACCACTGCACTCCAATCTGTGTGAC AGAGTGAGGCTGTGTCTTTAGTTAAAAAAAAAAAAAAAAAAAAAAAAGAC AGGGTCTCGTTCTGTCGCCCAGACTGGAGTGCGGTGGTGCCATCACAGCT CACTGTGCTCTCGAACTCCCAGGCTCAAGCAGTGCTCCCACGATATCCTT CCAACTAGTTGGGACCACAGACTGGTGTCACCATGCCTGGCTAATATTTT TTAAAGTTTTTGTAGAGATGAAGTCTCACCATGTTGCCCAGGCTGGTCTT AAACTCCTGGGCTCAAGCCATCCTCCCACCTCAACCTCCCAAAGTGTTGG GATTATAGGCATGAGCCCCTGTGCCCAGCTACATTTAAGTTTTTTTAAAA TTATGATAAAGAAGTACATAACATAAAATCTACCATCTTAATGTTTTTTA A	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01993.hp2 NA18944.hp2 others(5): Show HG01928.hp1 HG01993.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18956.hp1 NA18959.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 others(5): Show a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0250 a0001c0001t0015g0203	8	288	0.0278	-950	c.145 others(19): Show c.1454+2899_1455-3247del	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
TFDP3_chrX_133211662_133223354	133221216	CCTGGCTT others(943): Show CCTGGCTTCCGCTGAGATGGCTGATTATACTCATGAGTCCCACCCACAAT CTCTTCATCAAATGGTTGTCCAGCTGTAGGGTTAGTGTTCTCTTCAGGAC AAGTTTCATTTTTTGCAATATGGATAGGCTGAGAATATTCCAAGTTGTTA AGTTCTGGTTCCTTTTTGCTTAACAATTCCTTCTTTAATTCATCTCTCTC TTCTTGCATTTTACTATAATTAGTCAGGAGAAACCAAGCCAATCCCTCAA CACTTTGCTTAGAAATCTCCTTAGTTAAATATCCAATTTCTTCACTTTCA TGTTCTAACTTCTGCAAAACACTAGGACACAGTTCAGCCAAGTTCTTTGC CACCATATAACAGAAATCACCTTTCCTCCAGTTTTCAGTATCTTGTTCTT TATTTCTCTGTGAGACCTTACCAAGATTGCCCTAAATGTCCATATTTCTA GGATGTGCTGCAAGACTCTAGCCTTTACTCATTACCCAGTTCTAAAGCCA CTTCCACATTTTTAGGTATTTTTTACAGCAGCACCCCACTTCTCAATACC AAAATCTGTCTTATTGTATTTAGATTACCATATCAAAATACTGTAGACTG GTGGCTTAAACAGCATACATTTATTTTCTCACAGTTCTGGAGGCAGGAAA GTCTAAGACCAAGGTTCTAGCAGGATTTGGTCTCTGGTGAGCACCCTCTT TCTATCTTGCAGATGGCTACCTTTTCACTGTGTTTCTCACATGAAAAAGC GAAAGGAGAGAGAGAGAGAGAAAGATTGATTTCACTTATTATAAACACAT AGTCCTATAAGATTAAGATTCCACTCTTATGATTTCATTTAATTTTAATT ACCTCCTAAAGACTCTATCTCCAAATATAGTCAAATTGGGTGTTTGGGTT TCAGCATAAGAATTTTCAGAGGATGCAATTTAGTTCATAGCAGGTGCTCT G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	254	0.0039	-950	c.-39 others(11): Show c.-3907_-2958del	TFDP3	ENSG00000183434.10	transcript	ENST00000310125.5	protein_coding		2863		chrX	TogoVar
ZNF516_chr18_76352682_76500242	76393094	GGGCAGGT others(943): Show GGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA A	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0043 a0001c0002t0043g0043	1	288	0.0035	-950	c.181 others(21): Show c.1811-13741_1811-12792del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ADARB2_chr10_1172313_1742525	1237988	TTACTCCC others(942): Show TTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTG CATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTT ACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCAC TCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT CCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTCC CCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCC TCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCC TGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0046 a0001c0003t0009g0046	1	106	0.0094	-949	c.136 others(19): Show c.1361+3194_1361+4142del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ATAD3A_chr1_1507162_1539685	1530816	GAGACTCC others(942): Show GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACTAAGAATAA TTTGGAACGAGTGCGGTGGCTCACTCCTGTAATCCCAGCACGTTGGGAGG CTGAAGTGAGAATATCATACACCTGAGGTCAGGAGTTTGAGAGCAGCCTG GCCAACAAGGCCAATCTCACCTCCACTAAAAATACAAAAATTACCCCGGC ACATTTGTGGTGTATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGCCAG GAGAATCTCTTGAATCCAGGAGGCGGAGGATGCGGTGAGCTGAGATGGTG CCACTGCCCTCCAGCCTGAGCAATAGCGTGAGACTCCATCTTAAAAAAAT AGTAATAGGCCAGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGG AGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATGGAGACCATCTGGCCA AATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGG TGGCGCATGCCTGTAATCCCAGCTACTTGGGAGAATGAGGCAGGAGAATC ACTTGAACCCGGGAGGCGGAGGTTGCAAAGAGCCGAGATTGCACCACTGC ACTCCAGCCTGGCAACACAGTGAGACTCCATCCCAAAAAACGAAAACGAA AACTAAAAATAATAATAACTGGGGCTGGACGGGCGCGGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCATGAAGTCAGGA AATCAAGACCATCCTGGCTAACACGGTGGAACCCCATCTCTAATAAAAAA TACAAAAAAAAAATTAGCCAGATGTGGTGGCGGGTGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCT TGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0180 a0001c0023t0003g0180	1	420	0.0024	-949	c.161 others(19): Show c.1614+1492_1615-2155del	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
NDUFS8_chr11_68025681_68041644	68034843	GGCGGATC others(942): Show GGCGGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGTTGAA ACCCCGTCTCTAGTAAAAATACAAAAATTAGCCGGGTGTGGGGTTGCACA CCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACC TGGGAGGCGGAGGTTGCAGTGAACTATGATTGCACCACCATACTCCATCC TGGGCCACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAGGATTTACACT GTACTGTAGGCTGCGAAGTGTCTAAAACACAATGTATATACCTTAATTAA AAATACTTTAGGGGCCAGGCACAGTGGCTCACACCTGTAGTCCAAGTGCT TTGGGAGGTCAAGGTGAGGGGATTACTTGAGCCCAGGAGTTTGAGACCAG CCTGGGCAACATGGCAAAACCCCGACTCTACAACAACAACAAAAAATACA AAAAATTAGCCCCTGTAGGCCCAGTTACTTGGGAGGTTGAGGTGGGAGGA TCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTATGAGCTGCACCAC TGTACTCCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAAAACAAAAA CAACAACAAAAACTTTATTCCTAAAAAGTGCTGACCCAGAGATAAGAAGC AAGCACATGGTTGGTAAAATGACATCAGTGAGCTTGCTTTATGCAGGGTT GCCCCAAACCTTCAATTTGTAAAACTCAAAATATCTGGAAAGCTTGGTGA GGCGAGGCGGGACTGTAACTCAGCACTCACCGCAGGGTGAGACCCTTAGG GCAGCGGGTGCTACACTGAACAAAGCGGTGAACAGCCCCCTCGTGAGAGG GGGTTCTTGGCAGATGACGCCAGCAGCTGACAAACAGGCAAGGCAGGCCG GGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGTCCAAGGTAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	406	0.0025	-949	c.373 others(16): Show c.373-1393_373-445del	NDUFS8	ENSG00000110717.13	transcript	ENST00000313468.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
SRGAP2B_chr1_144882288_145100328	144882826	GCCGTGGG others(942): Show GCCGTGGGGGGCGAAAAGCCGCGGCGGGCAAAAAGCCGCGTCGGCGGGGG GGAAAAAGCCGCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGTCGG CGGGGGGGAAAAAGCCGCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCG CGGAGGCAAAAAAAGCCGCGGTGGCAGGGGGCAAAAAGCCGCGGCGGGCA GAAAGTCCTGGGGGCGGGGGGCAAAAAGCCACGGCCGGCAAAAAACCGCG GCGGCAGGGGGCAAAAAGCCGGGTCTGGCAAAAAGCCGTGGAGGCAAAAA GCCGCGGTGGGCAGAAAGCCATGGCGGCGGGGTGCAAAAAGCCGCAGCGG GCAGAAAGCCGCGGCGGGGGGGCAAAAAGCCGCGGCCCGCAAAAAGCAGC GGCGGCGGGGGTGCAAAAAGCCGCTGCGGGCAAATAAGTGCGGCACCGGC GGGGGGGGTAAAAGGCCGGGTCGGGCAAAAAGCCACGGCGGCGGGGGTGC AAAAAGCCACAGCGGCGCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGC GGCGGCGTGGGGGAAAAAGCCGCGGCGTTGGGGGCAAAAAGCCGCGGTGG CGGGGGGGCAAAAAGCTGCGGTGGCGGGGGGGCAAAAAGCCGTGACCGGC AAAAAGCCGTGGTGGCGGGGAACAAAAAGCCGCGGCGGCGGGGGCGGGCA AAAAGCCGGGGCGGGCAAAACCCCGAGGCGCCGTGGGGGCAAAAAGCCGG GGCGGGCAAAAAGCCGGGGCGGGCAAAAACCCGCGGCGGCGGTGGGGCAA AAAGCTGGAGCGGGTAAAAAGCCGCGGCAACAAAAAGCCTCGGCGGCGGG GGCGCAAAAAGCCGCGGTGGGCATAAACCCGAGGCGGCGGGGGGGGGGGG GTGCAAAAAACCGCCGTGGGGAAAAAGCCGCGGCGGTGGGGGGCAAAATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	54	0.0185	-949	c.83 others(11): Show c.8385_*9333del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4461		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144882838	GAAAAGCC others(942): Show GAAAAGCCGCGGCGGGCAAAAAGCCGCGTCGGCGGGGGGGAAAAAGCCGC GGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGTCGGCGGGGGGGAAAA AGCCGCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCGCGGAGGCAAAAA AAGCCGCGGTGGCAGGGGGCAAAAAGCCGCGGCGGGCAGAAAGTCCTGGG GGCGGGGGGCAAAAAGCCACGGCCGGCAAAAAACCGCGGCGGCAGGGGGC AAAAAGCCGGGTCTGGCAAAAAGCCGTGGAGGCAAAAAGCCGCGGTGGGC AGAAAGCCATGGCGGCGGGGTGCAAAAAGCCGCAGCGGGCAGAAAGCCGC GGCGGGGGGGCAAAAAGCCGCGGCCCGCAAAAAGCAGCGGCGGCGGGGGT GCAAAAAGCCGCTGCGGGCAAATAAGTGCGGCACCGGCGGGGGGGGTAAA AGGCCGGGTCGGGCAAAAAGCCACGGCGGCGGGGGTGCAAAAAGCCACAG CGGCGCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCGGCGGCGTGGGG GAAAAAGCCGCGGCGTTGGGGGCAAAAAGCCGCGGTGGCGGGGGGGCAAA AAGCTGCGGTGGCGGGGGGGCAAAAAGCCGTGACCGGCAAAAAGCCGTGG TGGCGGGGAACAAAAAGCCGCGGCGGCGGGGGCGGGCAAAAAGCCGGGGC GGGCAAAACCCCGAGGCGCCGTGGGGGCAAAAAGCCGGGGCGGGCAAAAA GCCGGGGCGGGCAAAAACCCGCGGCGGCGGTGGGGCAAAAAGCTGGAGCG GGTAAAAAGCCGCGGCAACAAAAAGCCTCGGCGGCGGGGGCGCAAAAAGC CGCGGTGGGCATAAACCCGAGGCGGCGGGGGGGGGGGGGTGCAAAAAACC GCCGTGGGGAAAAAGCCGCGGCGGTGGGGGGCAAAATCCCGCGGCGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02523.hp1 NA18946.hp2 HG02129.hp1 HG02523.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0056	3	48	0.0625	-949	c.83 others(11): Show c.8373_*9321del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4449		chr1	TogoVar
TCIRG1_chr11_68034025_68055895	68034843	GGCGGATC others(942): Show GGCGGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGTTGAA ACCCCGTCTCTAGTAAAAATACAAAAATTAGCCGGGTGTGGGGTTGCACA CCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACC TGGGAGGCGGAGGTTGCAGTGAACTATGATTGCACCACCATACTCCATCC TGGGCCACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAGGATTTACACT GTACTGTAGGCTGCGAAGTGTCTAAAACACAATGTATATACCTTAATTAA AAATACTTTAGGGGCCAGGCACAGTGGCTCACACCTGTAGTCCAAGTGCT TTGGGAGGTCAAGGTGAGGGGATTACTTGAGCCCAGGAGTTTGAGACCAG CCTGGGCAACATGGCAAAACCCCGACTCTACAACAACAACAAAAAATACA AAAAATTAGCCCCTGTAGGCCCAGTTACTTGGGAGGTTGAGGTGGGAGGA TCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCTATGAGCTGCACCAC TGTACTCCAGCCTGGGTGACAGGGCAAGACTCTGTCTCAAAAAACAAAAA CAACAACAAAAACTTTATTCCTAAAAAGTGCTGACCCAGAGATAAGAAGC AAGCACATGGTTGGTAAAATGACATCAGTGAGCTTGCTTTATGCAGGGTT GCCCCAAACCTTCAATTTGTAAAACTCAAAATATCTGGAAAGCTTGGTGA GGCGAGGCGGGACTGTAACTCAGCACTCACCGCAGGGTGAGACCCTTAGG GCAGCGGGTGCTACACTGAACAAAGCGGTGAACAGCCCCCTCGTGAGAGG GGGTTCTTGGCAGATGACGCCAGCAGCTGACAAACAGGCAAGGCAGGCCG GGCACGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGTCCAAGGTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	386	0.0026	-949	c.-42 others(11): Show c.-4280_-3332del	TCIRG1	ENSG00000110719.11	transcript	ENST00000265686.8	protein_coding		4181		chr11	TogoVar
TMEM240_chr1_1529778_1545624	1530816	GAGACTCC others(942): Show GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAACTAAGAATAA TTTGGAACGAGTGCGGTGGCTCACTCCTGTAATCCCAGCACGTTGGGAGG CTGAAGTGAGAATATCATACACCTGAGGTCAGGAGTTTGAGAGCAGCCTG GCCAACAAGGCCAATCTCACCTCCACTAAAAATACAAAAATTACCCCGGC ACATTTGTGGTGTATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGCCAG GAGAATCTCTTGAATCCAGGAGGCGGAGGATGCGGTGAGCTGAGATGGTG CCACTGCCCTCCAGCCTGAGCAATAGCGTGAGACTCCATCTTAAAAAAAT AGTAATAGGCCAGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGG AGGCCAAGGCGGGCAGATCACGAGGTCAAGAGATGGAGACCATCTGGCCA AATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGG TGGCGCATGCCTGTAATCCCAGCTACTTGGGAGAATGAGGCAGGAGAATC ACTTGAACCCGGGAGGCGGAGGTTGCAAAGAGCCGAGATTGCACCACTGC ACTCCAGCCTGGCAACACAGTGAGACTCCATCCCAAAAAACGAAAACGAA AACTAAAAATAATAATAACTGGGGCTGGACGGGCGCGGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCATGAAGTCAGGA AATCAAGACCATCCTGGCTAACACGGTGGAACCCCATCTCTAATAAAAAA TACAAAAAAAAAATTAGCCAGATGTGGTGGCGGGTGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCT TGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	-949	c.35 others(11): Show c.3594_*4542del	TMEM240	ENSG00000205090.10	transcript	ENST00000378733.9	protein_coding		3961		chr1	TogoVar
LUC7L_chr16_183990_234449	186220	GGGGAACA others(941): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	313	0.0032	-948	c.20 others(11): Show c.2030_*2977del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2769		chr16	TogoVar
SERPINF2_chr17_1737871_1760265	1740689	GACAGTCA others(940): Show GACAGTCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCG GACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAAGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCTGGACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01928.hp1 HG02040.hp1 others(8): Show HG00621.hp1 HG01928.hp1 HG02040.hp1 HG03492.hp1 HG03688.hp1 HG04115.hp2 NA18950.hp2 NA18981.hp2 NA18994.hp2 NA19074.hp2 NA19080.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0016 a0003c0003 a0007c0016	a0003c0003t0001 a0003c0003t0004 a0007c0016t0004 a0003c0003t0001 a0003c0003t0004 a0007c0016t0004	a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0026 others(5): Show a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0026 a0003c0003t0001g0101 a0003c0003t0004g0004 a0003c0003t0004g0007 a0003c0003t0004g0116 a0007c0016t0004g0036	11	442	0.0249	-947	c.-22 others(11): Show c.-2223_-1277del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2181		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740689	GACAGTCA others(940): Show GACAGTCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGG AAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTG GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCG GACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTGGGAAGGG GCCTGATGCAGGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAAGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCTGGACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01928.hp1 HG02004.hp2 others(8): Show HG00544.hp1 HG01928.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp1 HG03704.hp2 HG04115.hp2 NA18950.hp1 NA19074.hp1 NA19087.hp1 NA20752.hp2	a0001 a0025 a0001 a0025	a0001c0003 a0001c0017 a0001c0062 others(2): Show a0001c0003 a0001c0017 a0001c0062 a0001c0063 a0025c0057	a0001c0003t0001 a0001c0017t0001 a0001c0062t0001 others(2): Show a0001c0003t0001 a0001c0017t0001 a0001c0062t0001 a0001c0063t0001 a0025c0057t0001	a0001c0003t0001g0003 a0001c0017t0001g0003 a0001c0062t0001g0076 others(2): Show a0001c0003t0001g0003 a0001c0017t0001g0003 a0001c0062t0001g0076 a0001c0063t0001g0003 a0025c0057t0001g0003	11	429	0.0256	-947	c.30 others(11): Show c.3005_*3951del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		2105		chr17	TogoVar
ZNF804A_chr2_184593529_184944492	184759658	ATCCCCTG others(940): Show ATCCCCTGTGACCTGCACCTATACATCCAGATGACCTGAAGTAACTGAAG AATCACAAAAGAAGTGAAAATGGCCAGTTCCTGCCTTAACTGATGACATT ACCTTGTGAAATTCCTTCTCCTGGCTCATCCTGGCTCAAAAAGCTCCCCC ACTGAGCACCCCACTCCTGCCCGCCAGAGAACAACCCCTCTTTGACTGTA ATTTTCCTTTACCTACCCAAATCCTATAAAACAGCCCCACCTCTATCTCC CTTTGCTGACTCTCTTTTCGGACTCAGCCCACCTGCACCCAGGTGAAATA AACAGCCTTGTTGCTCACACAAAGCCTGTTTGGTGGTCTCTTCATAGGGA CGTGAACTCGCTGAGTCCGCCCTTAGTAATGTCATCAGTTAAGGCAAGGA CTGCCATTTTCACTTCTTTGGTAGTGGAATGCCATCAGTTAAGGCAGGAA CAGGCCATTTTCACTTCTTTTGTGATTCTTCAGTTACTTCAGGCCATCTG GGCGTATACATGCATGTCACAGGGGATACAATTGCTTGGCTTGGGCTCAG AGGCCTGACAATTATGCCTTATGCAAAATTGAAATCTTAAATAAACATGA CTGTTTATTTGAACGAATTTTAAATAAACTGATAACTTTATATACTACAA AAATGGAGACATAGTTATGTAATATGTAAATAAGTACATATGCATATGAC ATATATAATTATTTTTTCATTAAAATACATATAACTTTCTATTGAGATAA TAGATCTAAGTTAAATTTCAGATTTCACTTTGAAAATAATCTGATTTCTA AACTGTGGTTTTACTGTATCAGCAAGAATTTTAGAAAGGCATTATGTATG TTTAAAGTAGAGCTTAAGTTGGCATATTATGTGAATTTTAAGGTACTATA TCTTAATTGGCCAAACATATGGTAGCATATCTTTCATATTTCACCATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0106 a0009c0021t0001g0106	1	204	0.0049	-947	c.112 others(21): Show c.112-106710_112-105764del	ZNF804A	ENSG00000170396.9	transcript	ENST00000302277.7	protein_coding	1/3			chr2	TogoVar
AHRR_chr5_316714_443285	391309	GGGCCAGA others(939): Show GGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCATGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGG GCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGG CCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGC CAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCC AGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAG AGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGA GCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGC GTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCG TGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGT GCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCC AGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAG AGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGG GCCAGAGCGTGCACGGGCGCAGGGCGATGAGGGCGCAGGGCGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02132.hp1 NA18946.hp1 others(1): Show HG00438.hp1 HG02132.hp1 NA18946.hp1 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0002 a0002c0011 a0001c0010 a0002c0002 a0002c0011	a0001c0010t0005 a0002c0002t0001 a0002c0002t0006 others(1): Show a0001c0010t0005 a0002c0002t0001 a0002c0002t0006 a0002c0011t0001	a0001c0010t0005g0083 a0002c0002t0001g0105 a0002c0002t0006g0085 others(1): Show a0001c0010t0005g0083 a0002c0002t0001g0105 a0002c0002t0006g0085 a0002c0011t0001g0084	4	263	0.0152	-946	c.351 others(19): Show c.351+14596_351+15541del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
BRSK2_chr11_1384934_1467689	1429953	TCAGCAGT others(939): Show TCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTG CCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp2 HG01258.hp2 others(3): Show HG00738.hp2 HG01256.hp2 HG01258.hp2 HG02004.hp2 NA18966.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0017 a0002c0002t0022 others(1): Show a0002c0002t0002 a0002c0002t0017 a0002c0002t0022 a0002c0002t0073	a0002c0002t0002g0135 a0002c0002t0017g0304 a0002c0002t0022g0003 others(2): Show a0002c0002t0002g0135 a0002c0002t0017g0304 a0002c0002t0022g0003 a0002c0002t0022g0199 a0002c0002t0073g0215	6	346	0.0173	-946	c.92- others(15): Show c.92-6064_92-5119del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1430472	CCAGCAGT others(939): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCT TCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0184 a0001c0001t0057g0184	1	304	0.0033	-946	c.92- others(15): Show c.92-5474_92-4529del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431297	CGGTCTGG others(939): Show CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTG CCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCA CTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGC TCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	353	0.0028	-946	c.92- others(15): Show c.92-4716_92-3771del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DACT2_chr6_168301904_168324777	168316924	TGTGTGTA others(939): Show TGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGA AGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCT CCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGAGG TCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAACAGCATCTCG GCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTGTGCT GAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAAACACACAAC AGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTG TCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGTGCAA ACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGT CTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGT CTGGTGCAAACACACAACAGCATCTCAGCAGCACCTCCCTTCCCATGTGT GTAACACGTCTGTGGCTGTCGTGTGCTGAGCTGCAAACACACAACAGCAT CTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTGGCTGTCGTG TGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTGTGGTGCAAACACA CAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAACACGTCTGTG GCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGT GCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCCCATGTGTGTAAC ACGTCTGTGGCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATT GTGTCTGGTGCAAACACACAACAGCATCTCGGCAGCACCTCCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	2	474	0.0042	-946	c.246 others(17): Show c.246+1518_246+2463del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
NKD2_chr5_1003802_1043943	1025626	CGTCCCAG others(939): Show CGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCTCAGC CCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCC CTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTC CCACCCTCTGTGGGTGCCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCT AGTGGGCATCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCA TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTG CTCTTCCCACCCGCTAGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCC ACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGTGCCCC AGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTG TCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTC TTCCCACCTGCTAGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACC CGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGG CGTCTCGGTCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCGGC CCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTTTCC CTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTC CCATCTGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCT GTGGGTGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	303	0.0033	-946	c.142 others(17): Show c.142-6515_142-5570del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114006366	TCCCCACT others(939): Show TCCCCACTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTG CCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACC ACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTC CCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCC CTGCTGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCC ACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTC CCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCT GCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGATGCCAC CTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCC CTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGC CGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTA CCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACT CCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGA CACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACACCACCTTACC CTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCC TGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGA CACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCT TCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTG CCCTGCCGCCCCCCTCCTGCCCTGCCGGACACCACCTTACCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	66	0.0152	-946	c.174 others(18): Show c.1742+221_1742+1166del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
TEX29_chr13_111315642_111349248	111340401	GTGTTTAG others(939): Show GTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCATCTGTGCTTGTTG ATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATAATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTT TAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCCTGTTTAGTGAG CACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGT GCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTT GATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAC ATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAA CCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0274 a0002c0004t0001g0274	1	413	0.0024	-946	c.239 others(16): Show c.239+501_240-1378del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
ASMTL_chrX_1398139_1457909	1408124	GCAGGAGG others(938): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAG TGAACTATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTC AAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGC TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0106 a0002c0003t0001g0106	1	74	0.0135	-945	c.164 others(19): Show c.1645+3663_1645+4607del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240980134	GCCCAGGC others(938): Show GCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCA GACTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTC AGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCT CAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGA TCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGG AGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCT CAGGATCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGA GCCCAGGCTCATCCCTGCTCAGTCTCTGGGTCAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02970.hp2 HG02622.hp1 HG02895.hp2 HG02970.hp2	a0001 a0042 a0001 a0042	a0001c0001 a0042c0027 a0001c0001 a0042c0027	a0001c0001t0003 a0042c0027t0003 a0001c0001t0003 a0042c0027t0003	a0001c0001t0003g0165 a0001c0001t0003g0166 a0042c0027t0003g0047 a0001c0001t0003g0165 a0001c0001t0003g0166 a0042c0027t0003g0047	3	202	0.0149	-945	c.440 others(19): Show c.4402-2701_4402-1757del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRICH2_chr17_76269049_76313276	76283602	CGTGGCTC others(938): Show CGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGA TCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTATCCAGGTGTGCTGGTGGGTGCCTG TAGTCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGG AGACGGAGGTTGCAGTGAGCTGAAATCATGCCATTGGACTCCAGCCTGGG CAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAGCGGGGTGCAGTGGCTC ATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGGTGAATGACCTGA GGTCAGGAGTTCAAGACCGGCCTGACCAATGTGGTGAAACCCTGTATCTA CTAAAAATACAAAAAAATTACCCAGGCATGGCGGTGTGCACCTGTAGTCC CAGCTACCCAGGAGTCTGAGATAGGAGAATCACTTGAACCCGGGAGGTGG AGAATGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCAACAG AGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAAAAAATGCAC AAAGAGGTTCCTGACATGAACCCGCTTGGCCCAGTGGCTTTTCCTAGGTG GTTCTTCTGTGAGCACTCAGAGGGCTGCTCCTGATTCAGACAATCCTTAG TGAGAAAATGACCAAGAATTGCATTGCAAGGCTTAAAGACAGACACTGTC AAGAAAATGAAAAGATGACCCACAGAATGGGAGAAAATATTTGCAAGTCA TCTATCAAATAAGAGTGTAGCATCCAGAACATGTAAAGAGCTCTTTCAAC TCAACAATAAAATGACAAATAACTCACCTGAAAAAATGGATGAAGGATTT GGATATGTATATTTTATCTCTAAAGAAAGTATACAGGCCAGGCGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp1 others(47): Show HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01361.hp2 HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18960.hp2 NA18964.hp2 NA18968.hp2 NA18992.hp2 NA19004.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0006 a0007 a0009 a0016 a0023	a0002c0004 a0002c0022 a0004c0006 others(12): Show a0002c0004 a0002c0022 a0004c0006 a0004c0009 a0004c0014 a0004c0020 a0005c0007 a0005c0017 a0006c0008 a0006c0018 a0007c0010 a0009c0044 a0009c0045 a0016c0039 a0023c0033	a0002c0004t0001 a0002c0022t0001 a0004c0006t0002 others(12): Show a0002c0004t0001 a0002c0022t0001 a0004c0006t0002 a0004c0009t0002 a0004c0014t0002 a0004c0020t0002 a0005c0007t0003 a0005c0017t0003 a0006c0008t0001 a0006c0018t0005 a0007c0010t0001 a0009c0044t0002 a0009c0045t0001 a0016c0039t0002 a0023c0033t0001	a0002c0004t0001g0275 a0002c0022t0001g0237 a0002c0022t0001g0307 others(46): Show a0002c0004t0001g0275 a0002c0022t0001g0237 a0002c0022t0001g0307 a0004c0006t0002g0028 a0004c0006t0002g0029 a0004c0006t0002g0030 a0004c0006t0002g0031 a0004c0006t0002g0034 a0004c0006t0002g0038 a0004c0006t0002g0040 a0004c0006t0002g0042 a0004c0006t0002g0048 a0004c0006t0002g0051 a0004c0006t0002g0052 a0004c0006t0002g0054 a0004c0006t0002g0055 a0004c0006t0002g0056 a0004c0009t0002g0039 a0004c0014t0002g0005 a0004c0014t0002g0046 a0004c0020t0002g0033 a0004c0020t0002g0047 a0005c0007t0003g0012 a0005c0007t0003g0013 a0005c0007t0003g0014 a0005c0007t0003g0015 a0005c0007t0003g0016 a0005c0007t0003g0017 a0005c0007t0003g0018 a0005c0007t0003g0019 a0005c0007t0003g0021 a0005c0007t0003g0023 a0005c0007t0003g0024 a0005c0017t0003g0020 a0005c0017t0003g0022 a0006c0008t0001g0217 a0006c0008t0001g0218 a0006c0008t0001g0221 a0006c0018t0005g0344 a0006c0018t0005g0345 a0007c0010t0001g0225 a0007c0010t0001g0227 a0007c0010t0001g0228 a0007c0010t0001g0229 a0007c0010t0001g0230 a0009c0044t0002g0057 a0009c0045t0001g0233 a0016c0039t0002g0049 a0023c0033t0001g0077	50	362	0.1381	-945	c.401 others(19): Show c.4012-2432_4012-1488del	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18			chr17	TogoVar
KAZN_chr1_14593685_15123043	15000152	CTGGAAAA others(937): Show CTGGAAAAAGGTCAGAGTCAGAGAGATCTGAAGGTGCCCTGTTGCTGACT TTCAGGCTAGAGGACAGGGCCAGCAGCCATGGGATGCAGGCGGCCTCTAA AGGCTGGGAAAGGCAAGGAAACAAATTCTCCCCTATAGCCTCCGGTGGGA GCCTGGCCCTGCCAACACCCTGATTTTGGCCCAGTGAAACCTAATTTGGA CTTCTGATCCTTAAAACTATAAAATAATACATCAGTGTTGTTTTAAGCCA CAAAGTTGGTGGTAATTTGTTACAGCAACAATAGGATTCTAATGCACAAC CCAGAGCCCCCGTCCCTCCTTGGAGCACCTCATTCAAAGTAGGGCTGAGG AGGCACCTCGGGGGGTACAGAGGGTGTCGTGAGAGAGCCACTCCAACCTG TAGCCAAATGCTGCCCGGCCACTGTACCCCTCTGAACCTCCAGTAACCCC TCTGGAAAGCAAGGTTCATTCCTCCTAGAACTGTTGGGAAGAATTTTTGA GGATGGGAAGGACCTAGCCCAGCCCCTGGCATGGAATAAGCACAAAATTA CTCAGCCGTGTATATTGTTTGTTTCTCTGCTGAAAAAGGCAGGGAAAGAG GGGGTGTGCCTGGCACAGTGCTTGTACGTTTGGATCAACATTAGGCAACC TGGATTCAAATTCCAGCTTTGGCCGGGTGCAGTGGCTCACGCCTGTAATC CCAACGCTTTGGGAGGCCAAGGCGGGAGAATCACTTGAGCCCAAAAGTTC AAGACCAGACTGGGCAACATAGCAAGACCCTATCTCTAAAAAAATTTAAA CATTATCCAGGTGTGGTAGTGTCTACCTGTGATCCCAGCTACTTAGGAGG CTGAGGCAGGAGAGTCGCTTGAGCCCAGGAGTTCGAGACTGCAGTGAGCC ATGGTGGTGCCACTGCGCTCCAGCCTGGGTGACAGATGGAGACCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp1 HG02809.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0122 a0001c0001t0010g0040 a0001c0001t0002g0122 a0001c0001t0010g0040	2	146	0.0137	-944	c.419 others(19): Show c.419-34594_419-33651del	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTM_chr11_131365615_132341822	131726330	GCACAAGT others(937): Show GCACAAGTCAGTGTCTGTCCTTGGTTCTCCCTGTGGTCCACTTGCTTCCT CTGTCTCCTGGCCCCTCTCACACTTGGATTGCTGCCATCCTCTAATGGCA TCTAGAGACACCAGCCCTTTACTCTACTGGCAAAATAAGCCCTAACCCAT GGCTACTGGAAGTGACAGGCTTTTACTGAAGGCTTGTTGGTTCTGGAGAG TGATCGCACAGCACAGAACAGAAAATGGCTTAAAATTGGCTACCAACCAT CACAGCCCTAAAATCTCCTCAGCCATCCATGACTCTAGGAATTTCCTTGT TGGCTCCTCTTCCCAAGCCTCAGTTTCCTGCCTTGTAAATAGGCTCATTA CGTTTCCAAGAACCCAGTCACCCCATTGCTCTTTTTTGTTTGTTTTGTTT TTGAGACAGAGTCTTGCTTGGTCATCAAGGCTGGAGTGCAGTGGTGCAAT CACAGCTCATTGCAGCCTAAACCTAATGGGCTCAAGTGATCCTTCTGCCT CAGCCTCATTAGTAGCTGGGAATACAGGTGTGCACCACCATGCATGGCTA TTTTTTTCCACAGAGACGGGGCTGGTCGTCAACTTCTGGGCTCAAGCACT TCTCCCTCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGCAAGCCACAG CACCCAGCCCATGCCATTGCTCTTGAAGCTGATTCCCCTGTCAACCAGTC AGGCTGCAGCCCCTAACCCCTCTTACACAGCCAAGTGGAGCAGCTCCTCT CTGTTGCCTCCTAACACTTCTTCCTCCAGTCCATGCCTTTATGGGATTTG CATTTTCCAACCCCAAACAGCTAACAACCTTTGTGTAAGGAAAAGCAGAG TTCTGTTAGGAAGACAAATTGTGTGGTCCTCTTGGAGCATCTGGCTTCAA AAGCAACAAGTTTATATAGAAATGCTTTCTTCATCCTTCTAATTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show HG01243.hp1 HG01884.hp2 HG02258.hp2 HG02922.hp2 HG03130.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0023 a0001c0001t0002g0022 a0001c0001t0004g0005 others(3): Show a0001c0001t0001g0023 a0001c0001t0002g0022 a0001c0001t0004g0005 a0001c0001t0004g0014 a0001c0001t0004g0029 a0001c0001t0009g0050	6	86	0.0698	-944	c.83- others(19): Show c.83-185229_83-184286del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMP6_chr6_7721099_7886728	7781335	CGTACCAT others(936): Show CGTACCATGCCACTGTCTCTGTCAGCTTCAAGGTGTGCTTCTTGGGGATG TGGGCTGAGGCTTAGTGAGCTCGTCTATTTTTGCTGTGTTTGTACAGATT CAGCCTCAGCAAGCACACAGCAGGCCTGGCTGTGGGAGGCAGTGTGGTTT AGAGCAAAGAGTATGATGGCCTTTAGCATTTGTTAGTCTGGCTTTGGCTT GTACTCTGTCACTCACCGCCTCACCACATTATTTAATTGAGTCTCTCTCC ATTCATTCATTGTTTCATCCCCGTGTTCACTGAGTGCCTATTGAGTGTCC GGAACTATGCCCAGTGATACACTTAAATAAAAAACAGACATGGTTATCAA TCAAGTGATCATAGTTCTGAGTATAATGACAAACTGAGTGAAGTTCCCTG AACGAGCAAAAGCCAGTAAGGAAGACTGGGAGGTCTGGGAAGGTTTCCTG GAACAAATGGCGCTTGGTCAGAGGCCCCATGTCAGTGGGGGAATATGAAA CTCTTGGAGAACTGAAAAGATAGGTGAGAAGTGCGAGGTCTTTCAGGCCA TATTCAGGGTCTCCACCTTCTTTCCAAGAGCTGTGAGTAGTCATGAAACG GTTTTAAGCAACTGTGGTGAGGATGGTAGGGGCTGCCTTGATCACACTTG GAAGGGATGGAGTGGACACAGGGGCCCCATTTAGGAAGTTTTTAGTAGCT GGGTTGAGAAATGGTGGTGGCTTGAATGGCAGAGGAGGTGGAGAGAAGCA AATGAACTTGAGAGAGATTCAGGGGGCAAACTGCCAACAAGACATGGCGA TGGATAAGATGTGAAGGAGTGCCAGAGGGGGAGGCAAGATGCACAGGCTT CCAGCTTGCCAACCTGGAAGGGAGGGTACCTTCTTCATTGAGATAGGGAA CTCTAGGAAGCCCCCCACACCAGATTGGTGGAGGGAGATTGTAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01943.hp2 HG00140.hp1 HG01943.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0002 a0002c0003t0001 a0002c0004t0002	a0002c0003t0001g0251 a0002c0004t0002g0253 a0002c0003t0001g0251 a0002c0004t0002g0253	2	306	0.0065	-943	c.664 others(19): Show c.664+53717_664+54659del	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6			chr6	TogoVar
CACNG4_chr17_66959707_67038398	66989011	AGATCATG others(936): Show AGATCATGCCACTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGCCTC AAAAAAAAAAAAAAAAAAAAAGGCAAGAGAGTTAAATGAGAAGAGAAACA GAAGCTGCTAAGAGCTTTTTATTCCCGGCATCTTTAGCTTCAGGGAGAAT TATGGATGGAACTGTGTCCCCTAAAAAGATATGTCAAAGCCCTGATGCCT GGAACCTGGGAATCTGACCTTATTTGGAAATAGAGTCTTTTTGGATGTCA TCAAGTTAAGATGAGGTCATACTCCATTAGAATAGGCCTTCGTTTAATAG ACTGGGTTCTTATAAAAAAAAAAGGAGAAGAGACAGACACAGACGGAGAA GGACACAGAAGATGGAGGCAGAGATTGCAGTGATGCAGCTACAAGCCAGG GAATGTTCGGGGTTGCCAGCAAACACCAGGAGCTAAGAGAAAAGCATGGG GCAGATCCTTCCTAGATCCTTCAGAGAGAGCATGGCCCCACTGACACTTT GATGTTGGACTTCTAGCCCCCAGAACCATTCGAGGATAAACTTCTGTTGT TTTAAGCCAGCTCGTTTGTGGTACATTGTCATGGCAGCCCCAGAAAACCA ATACAAGGAGATTAATTCAGCCTTGCAAATAACTGCCGAATTAACCACGC TTCCGAAGTGTTTCCCATGCTGCTCTCCAAGAGGGGGTAGCCTCAAATAA AAGAAAGTTGATTTTGTTAGCAACGGTGTGTTGAGAACTCCCTTTGTAGG CTAAGAACATGTATGTGTCACCTCCCTGAACCGCCCACCAACCTCCCAAT GTGGGTACTGTTCCTTTCCTGATTGACAGTGGAGGAAACTGAGTCTCGGA TGAAACACTTTTGTCGAAGCAACATGAAAATTTTTTCTTTCTTTCTGGGT CAGTGACTATTTCCAAGGCTGGACTGGGGTCCTGAAGGCAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG02055.hp1 others(13): Show HG00735.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02486.hp2 HG02615.hp1 HG02723.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0002c0004t0001 a0002c0004t0003	a0001c0001t0001g0113 a0001c0001t0002g0015 a0001c0001t0002g0016 others(13): Show a0001c0001t0001g0113 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0326 a0001c0001t0003g0325 a0001c0001t0005g0266 a0001c0001t0005g0322 a0001c0001t0011g0107 a0001c0001t0034g0117 a0001c0001t0035g0114 a0001c0001t0038g0115 a0002c0004t0001g0324 a0002c0004t0003g0323	16	350	0.0457	-943	c.220 others(19): Show c.220+23883_220+24825del	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
DLGAP2_chr8_732628_1713476	1034591	GCGAGTGG others(936): Show GCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGA CTCACACGCTCATCCCGACCCCGCGTGTCACCGCGAGTGGATTCACAGCC TCATCCCGACCCCGCGTGTCACCGCGAGTGGACTCACACGCTCATCCCGA CCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTG TCACCGCGAGTGGATTCACACGCTCATCCCGACCCCGCGTGTCACCGCGA GTGGGTTCACAGCCTCATCCCGACCCCACATGTCACCGCGAGTGGGTTCA CAGCCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAGCCTCAT CCCGACCCCGCGTGTCACCGCGAGTGGATTCACAGCCTCATCCCGACCCC GCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCAC CGCGAGTGGGTTCACACGCTCATCCCGACCCCGCGTGTCACCGCGAGTGG ATTCACACGCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACAGC CTCATCCCGACCCCGCGTGTCACCGCGAGGGGACTCACACCCTCATCCCG ACCCCACGTGTCACCGCGAGTGGACTCACACGCTCATCCCGACCCCGCGT GTCACAGCAAGCGGGTTCACAGCCTCATCCCGACCCTGCGTGTCACCGCG AGTGGATTCACACGCTCATCCCGACCCCGCGTGTCACCGCGAGTGGGCTC ACACCCTCATCCCGACCCCGCATGTCACCGCGAGTGGGTTCACACCCTCA TCCCGACCCCGCGTGTCACCGCGAGTGGGTTCACACCCTCATCCCGACCC CGCGTGTCACCGCGAGTGGGTTCACAGCCTCATCCCGACCCCGCGTGTCA CCGCGAGTGGATTCACACGCTCATCCCAACCCCGCGTGTCACCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01361.hp1 others(15): Show HG00639.hp1 HG01071.hp1 HG01361.hp1 HG01891.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02258.hp1 HG02647.hp2 HG02698.hp1 HG02895.hp1 HG02922.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0003t0001 a0001c0003t0024 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0020 a0003c0005t0002	a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0006g0011 others(15): Show a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0024g0003 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0020g0024 a0003c0005t0002g0030	18	34	0.5294	-943	c.73+ others(19): Show c.73+127125_73+128067del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAIR1_chr19_54346384_54369931	54368988	ACTAATTC others(936): Show ACTAATTCATTTTTTAAACACACTTCTTACCTGGGAATAAATTTAAACTT GCAAAAGAGTTGCAGAGGTACAGAGAGTTCCCATATGCCCTTCATCCAGG TCCCTCTAATGTTCATGCTTTACACGACCCCAGCACATCCGCCAAAAAAA AAAAAAAATTAACACTGGTACAATAATTAACTGACAGGCTTTCTTTGGAT TTCATCATCTTTCCACTAACGTTCTTTGCCTGTGCTGGGATCCAATGCAG GGGCACCGTCCTGCATTTACTTCCCTCTCTGTTAACTGCAGAGAAGGGTT TCTGTTTTCCTGGTTGGACCCTGATTAATATTCCCCTAGTATCTGAACTC CAGGTGCCCAGGAAGGTTGGGGGGCAAGGATGTGCTGCCCACTGGGGAAG GAGTGGCTGGCAGAATCGACATCCGTCTGTTCCTCCACAATCCAAGGTCA CAGAACACATGGGCAGTTATTCTGGGTTTTTCCATAAGAAGGGTGATACA GAGCTGTCGTTGTTCCATATTATGAGGACCCCTCCACCTTTGCATTCCTC TAAGACCTTTCCTCTGAGACTCTCCTCCAAGCTGGAGAAGACAAGCTACA TGCTTATGTCCAAGGCATGCTGCAGATTCAGCATGGCACAGCTCCCTCAC TCAAAAACGTTACTTGATGTGGGATGCACAGGCATAGAGTAGTGATTCTC ACACTAGACTCAGATACATACACAATATTTGCAACTTAAATTAAACACCA ATTAAATGTCAAGTGGAAAGACAACATCTACAGAAATAAAATGACACAAG ATGCAATGTGAAATGTCATTAAAAGAAGAGTTTGCATTAGAATAGTTCAA ATATTTCAAAACTATTCCAGCACGTCACTGCGTTGCTGACCTATCTTCCT CCTGAGATGTGGTCGCCGTAATGATCTCAAGCTTGGACCTCGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02970.hp1 HG03486.hp1 others(2): Show HG02145.hp1 HG02970.hp1 HG03486.hp1 HG03492.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0003g0036	5	460	0.0109	-943	c.-51 others(11): Show c.-5127_-4185del	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		4058		chr19	TogoVar
OC90_chr8_132019216_132064382	132048390	CTGAGAGC others(936): Show CTGAGAGCAATTTGGGATGGTTGGAGTATGGAGACTAAGGCAGTCATGGT CCCAGCTGCACTAACCCACCGTGGTCCCCCAAATATGCCGCACATTTTCA CAGTATTAAGTCCTGCTTTTGCCTCTTTCCCATTTTTCCTGACTGAAAAA CCCTTGTCCTCTAATGACTCTATGCAACTTTTACCAAAACCCCCTACACC CTTAGCCACACTCTGCACCTTAGCTGTTTTTCTATCAGCGTCAATAACTA TCATCAAGGGAATGGACAGAATGACTGGGGTCCTCGTCCTTTTATCTGGA AAGTCTTAAGGTGACTCTTTTGTCCCCACTCCCCCCTGTTTTACAGGTAA AATATCAGAGGTTTAGAGAGGTGGCACCTGCCACGGCCACAGAGCACAGC AGGAAAGGGAATAAGGATCAGTGTTTGGCCAACTTCGTCACAAGGGATGG CTGAGGCACAGTCTACAAGAGGGCAGCTGCAACCCCCTATGACCCATCTC ACCAAAGGGCCTGCCTGCAGGGGGCCTGAGGCTGAGGCACCCACAGGGTG TGTGGGTTGGGAGCCTGCTCTTCCACCTGCTAAAGGTGTCTGTGTCCCCA GAGGTAATTCCATGATGAATTTGCTCCCCAAGATAATTCCATGGTGAAAC AATGAGGTTGACGATGAAGGTAATGTCCAACAATGCAACCCATTTGTTAA TGAAGAGGGGAAAGGGAACAGTGAACATAAGAAGCTGTTAATGATAATAG TAACAAATAACTGGCTTAACCTTTAAACACGTGTAGCATACCTTCTGATG TTATTTCCTTCTACCTTTACAACACTTTTTTGTGTCAATGTTATCAAGTC TTGCAGACCTATGTTTGTCTCCTACCACTCCAGTACTCCAAACCTTCTGT GATTCTCTAAGATCTCCAGCTTCTTAATGAGTAATCAAGGCTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02055.hp2 HG02145.hp2 others(8): Show HG00741.hp1 HG02055.hp2 HG02145.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 others(5): Show a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0007t0002g0025 a0001c0007t0002g0052 a0001c0007t0002g0160 a0001c0007t0002g0181 a0001c0007t0002g0182	11	406	0.0271	-943	c.47- others(15): Show c.47-3450_47-2508del	OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	2/13			chr8	TogoVar
TCF25_chr16_89868592_89916379	89901755	AAAAAAAA others(936): Show AAAAAAAAAAAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGG TGAAATCCCTCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAG GGTGAAATCCCTCCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGGTG AGGGTGAAATCCCTCCTTAAGACGGGCCTCCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGACTAACACGGTGAAACCACGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGTTGGCGGGCACCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACATAGTG AGACTCCGTCTCAAAAAAAAAGAAAAAAAAAAAAAAGACGGGCCTCCTCC GAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCCT CCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGATGGGCCTC CTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCC TCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGC CGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACA CGGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTT GGCCGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCAACATAGCGAGACTCCGTCTCAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0070 a0001c0004t0002g0070	1	295	0.0034	-943	c.138 others(19): Show c.1381+1048_1382-1334del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
ASXL2_chr2_25728753_25883487	25773618	ATTACGCC others(935): Show ATTACGCCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCATCTCAA AAAAAAAAAAACAAAAATCATAGCCTCAGTATACTTTGATACTGACCAAT TTTTAAAAAATAGCTTAAGATAAAATTTATACTATGCAGCTGGGCACGGC GGCTCACACCTATAATCCCAAAGGGAGCCGAGGCAGGTGGAACACTTGAG GTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTAC TAAAATACAAAAATTAGCTGGGTGTGGTGGCAGACACCTGTAGTCACAGC TACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGT TGCAGTAAGCTGAGATCACGCCACTGTACTCTAGCCTGGGCAACACAGTG AGACTCCATCACAGAAGAAAAAATAATATATATATATATAATTCATATAC TATACATCTTGCCTAAAGTATAAAATTTGAGGCCTACTTGAGGGTGGAGG TGGAAGGAGGGTGAGGATAAAAAAACTACCTATTAGGTACTATGCTTATT TCCTGGGTGACAAAGTATTCTGTACACCAAGCCCCCATGACATATAATTT ACTTATACAAACAACCTGCACATGTACCCCGAACCTAAAACAAAAGTTAA AAAAATTAAAATATTTAAACATATGTACACAGATCACAAGTGGGTAGCAC ACTGAAGCTTTTTATATTTAAATTTTTTAAAAAAGGATATTTTAAGCCCA CAGCTATCTTTTTGTGATCCCAGCCGGTCACAATCTTCAAGGATGAGCAC TACATTGACATCTAATAGCAGAGGTTACTTTTACCTCTTTTATACTTTAT ATAAATATTGTGCAGCAGGAACTCTTTTGTACATGTCTTTTTACATTCTG TAGGCTGTTTTGAATTTATATGTAGTTTTCCATGTTGTGAATC	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0072 a0001c0001t0014g0072	1	220	0.0045	-942	c.404 others(17): Show c.404-3020_404-2079del	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12			chr2	TogoVar

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