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
INPP4B_chr4_142018160_142851301	142773840	ATTGATCT others(1473): Show ATTGATCTAGATTTTTGGAGAGTAAGAGCCATCTGTTCCCATGGATAACA GTAGCGCTGCCTTCCAAAAGTTATTCCTATTCACTGGAATTGGCCTCAAG CATCATTTTACCAGATAGTATTTAAAACTGAGATGATAACATCCAATATT AAAACCATGGTGGGTTTTATGTCTTAATTTTGTTGCCTTTAACTTTTTGT TAGTTTTCTTAAGAGAAAAGAAGAGTGCATGTACATAAATAAAATGTCAG AGGCTTTTCTTTAATCCTTTCCAAACAGTGCTCAACAATTATTTCTCCCT TTCTATCCAGACTGTGTAATTCCAAAATGATCAGAGAAAAACTTGCCATC TGGATGTCATAAGTAAATAACTTGTTTCTGAGGCCTGCCTGGAGCTGTCT GAACCAGTGCAATCATGGAGGTGTTGGCTAACGCACCTGAGATGAAGACA CCTTCGGGCTTATTCTTGTACAACTGTTCTTCACTATGACATTTCTTTAG CATATGTCTGAAGATCATTAAAAGGTAGTGCTGCAATCCTCTCCAAAGGC AGGTGAGTTATATTTGGACAGCTTAATAATCATAAAATTATTCTTTCAAT CTAAGTTGAAATCTGCTCCCATGGAACTTTGATCAATTTGTTCTTTTTCT GCCACTGGAAACTAAAGTGAGCATGATCCCTTTACATACAACATCTAAAA TATTTGAAGGCAGTAATTATAAGTAATTCACCTACAACAACTTCATAAAC ACTTATTTGATTATAAGTACTTCATCAATATTATCTCTTTCATTTTTTAA TCATCTGTTCCATTTACAAGTTACCAGAGTTATTTATTGATTTTGTCTTC TGCACATCATGTTTGTCTCTTTTTTAAATGAGTTCCCTATTTTGAAACTG TTTTAGACTTACAGAAAAATTGCAAAAATAGGGCAGAATTCCCATATACC TTGCACATGCAGTTTCTCTTATTATTAACCTCTTACATTAGTACAGTATA TTTGTCACAATTAGTGAACCTATATTGATATAATATATTAACTAAAGTTC ATACTTTACTTAGATTTCCTTAGTTTTTAATGTCCAGATTTCATCTAGCT ATTTCATTAGGCTCCTCTTTACTGTGACAGTTTCTCAGGGTTCCTTGTCT TTTATGACCTTGATACTTTTGAGGAATACTGGTCAAGTATTTTGTAGAAT GTCTTTCAACAGAAATTTGTCTGATGATTTTCTTATAATTAAACTGGGGT TATAGGCTTATGGAAGTAAACCAATGGTAAAAATGCTATTTTCATCATAC TGTATCAAGGGAACATACCATGAACATGATTTATCACTGTTGATGGTGAC CTTGATCATTCAGTGAGACAGTGGTTGTCAGGATTCTCCTTTGTAAAGTT ACTCTCCTCCATGCATTCTTCTTTACTGTACTCTTGAACCAATGTCATTA TACAGAGCACAGTTAAAGAATGGATAGTTAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp1 HG02258.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0002g0021 a0001c0001t0001g0022 a0001c0001t0002g0021	2	90	0.0222	-1480	c.-25 others(21): Show c.-253-49419_-253-47940del	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	1/25			chr4	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(1473): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0131 a0001c0003t0029g0131	1	339	0.0029	-1480	c.462 others(16): Show c.462+299_462+1778del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746094	TCCGTGGA others(1473): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCG CTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGTCGCTGCAGTGTTAGTGTTCG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	307	0.0033	-1480	c.462 others(17): Show c.462+1463_462+2942del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
YBEY_chr21_46281342_46302751	46292548	ACAGCCAC others(1473): Show ACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGT GCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	308	0.0032	-1480	c.339 others(17): Show c.339+1094_340-2127del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
DDX51_chr12_132131594_132149319	132134721	CCCGAGTG others(1471): Show CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGT GCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTG CCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTC CTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCG CTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCG AGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGC CCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACC TCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA19064.hp2 NA18995.hp2 NA19064.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0013 a0005c0007t0013	a0005c0007t0013g0032 a0005c0007t0013g0032	2	327	0.0061	-1478	c.30 others(11): Show c.3073_*4550del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1872		chr12	TogoVar
GALNTL6_chr4_171808404_173046559	171883673	AGTCTCGC others(1471): Show AGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCTATCTCAGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCTGCCACCACACCTGGCTAATTTTTTGT ATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGGTGGTCTCAATC TCCTAACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCTCCCAGACATATATGTGCTTTTCTTAGAAGTCAT CAATGTTCAATCTCTCACAAAAATGTGTAAACATTTATAAACCCATTTAT ATTTACATAGAATCCATATTTCTGTTATAGTAACATATTTTACAAACTAT TTTCTCTCTCGAAAAGTTGCAGTTAGCTTTATTTACAGTTATTTCTTTGA CAGATGAATTCCTCCTTGCCTCTCAACTGAAACCTGTCTGAGGCCACAGT GACCTCCTGAATTACCAAATCTTTGCCTTTTTTCTTTCATGTCATTTAGC TTTGCTATTATCTATGGCCAAATATTTTTCCTAAAGCATTGAAAGATCTC ATGCTTAGACTCAACATTTTTTAATAGGAAGAATAAAGAAAAGTAGTATT TATTACCGACTATGTTTCAGGCCTCCTTTTAAGTTCTTTACATGCATTAA CTCATTTGTTCTTCAAAATAATCTAATGTAGTAGATAATATTAGATACTG TTATTATCATCTTAGAGAAAACAGGCACAAGAAGCTTAGTGTCATGCTCA AAGCTTTGCAGTACATAAATAATGCAGACAAATTACTTAAATTTAAGATA TATACATATATAGTATATATAACTATATATGTAGTTGTCTGTTGGAGTCA GTCTGTTGAAGATATACATATTCATTTCAAATTATATATAAAAATATGAT ATACATGTATATACATGTAGACACACACAGTTGCAGACAACAAAGAACAT TTTGGGTCATTTGTGGTAACTAGGAAATAACTGTTAATGACAAAAGACAG CTAATGTATTTAACAATAAAAGAATTTATCTGTGCAAGAATGTGTTGTTT AGGCTGGGCACAGTGGCTCATGCATGTAATCCTAGCACTTTGGGAGGCTG AGGCAGGCTGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACA TGGTGAAACTCTATCTCTACTAAAAATACAAAAAATTAGCTGAGTGTGGT GGTGGGTGTCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATTG CTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCTGCTGCA CTCCAGCCTGGGCAACAGAGTGAGACTCTACCTCAAAAAAAAAGAAAAGA AAAGAAAAAGAATGTGTTATTTAGTGTAAAATTAAAATACAGATTTGGGG ATTTGGGGACCCTTGTGTATAATTACATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	40	0.0250	-1478	c.138 others(19): Show c.138+68963_138+70440del	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745102	CGGGGTCG others(1471): Show CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0347 a0001c0001t0012g0347	1	298	0.0034	-1478	c.462 others(16): Show c.462+475_462+1952del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CNOT2_chr12_70238433_70359993	70348464	TAGGTGAT others(1470): Show TAGGTGATGCTACAGGAGTCAAAAACATCTTTGGAAGAAGAAAAAAATTT TATTAGGAAAGAACTGAAGTTTTCTCCATTCAATTTGAACATTTTTGCTC AATATTATTGTAAATTATTCCAAACTTACATATGTAAAAAGGGGTGGATA TTTTCAGTAAACAGCTACATAATTTTAGTTAAATTTTGTTAGATATATGT ATGAAGAAATCAATTTGTGAGAAAATCAGCTTTCCAGAATTAAGTTCTCC TCATGAAGTTAAATATTTAGAAAACAATGTTAACATTAATGTAGGACTCC TTTAATTTCCAGCAAAAGCAATTCCTCAGTCAGGTAAATGTCATTTTAAA GAAAATTGTATCTATTTAAATATGGATTTACATATTTTTTATATATTATA TATAAAACATAATTTAGCTCAGTTTTATCTATCGTGTACAGTTGAGCTTT TGTCTTTATCTTTAAATTTTTTAACTGTGATGTGAAAAATGTGAGAAATA ATATCATTAAGTTACTCCCTCAGAAATCTCTTTCAAGGTAATAGTTTGTT GGTACCTTGCACTGACACGCTTTAAAATTATTTTCATAGTAATGAAAACA GGCAGAATTGTTGGTATTAAGATATTAATGAGCAGCTCACTCTTGGTTAT ATTAAAATACAAATTCATGCACTTAAAATTTTGAAGTTGCAGTATATTAA CGGGATAAATTTTTCAAAAAATTCTTTAAAGGATGTGTTCAGTGCTTTCC CAGAATATTGATTAGTAATTAAGAAATCTGGGACCTGTTCATAAGTATAT TTATTAACAGCCTTCATCAAATTATAGAAAATCCATTAACATGTCATGTC ACAAGTTGAGTCCCCATCTGTAAAGTGGGTGTGCCTTACTATTCACAGTT AAAGAACGTATATTAAATAACCTCAATTCACTGTAAGAAGCCTACAGTAT GAATTAACATTTTAAATAATAGCTGATATTATGGTGTTCTTGAAAGGTAC TGAACTGGTCTACACCATAATCCTGGAGTCCATTCATAATATTTTATGTC CATTCATAATATTTTGTATGAGCATTTTTCCCCAAATCACTTACTATTTT CAGATAATTGTAATATTAAATAAGGGATTAGATAATCTAAACCAGAAGTA TTTCTTATCCTCTAAAAATTTTGTGACCCTGAGTTCTAGAATCCAATCCA TTATTTATTTACATAATTTCCTGTAAATAATATATACATTAAAATGTTGA CATTGGTTGGGCATGGTGGCTCATGCCTGTAATCCTAACACTTTGGGAGA ATGAGGCAAGACGATCACTTGAAGCTGGGAGTTTAAGATCAGCCTGGGCA ACATAGCAAGACTCTGTCTCTATAGAAAGAGAGAGAGAGAGAAACATAGC CAGGTGTGGTGGTATGCTCCTGCAGTCCTAGCTACTTGGGAGGCTGAGGT AGGAGGATTGCTTGAGCCCAGGAGTTCA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	278	0.0036	-1477	c.153 others(19): Show c.1536+2145_1536+3621del	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	758481	CCTCTCCC others(1470): Show CCTCTCCCGAGCTCTTCTCGCTCCGGACTCTGGGTCTTTCTCCCCACGCG GCCCCTCTCCCGAGTTCTCCCTCCAGACTCCGGGTCTTTCCCCGCACGGC CCCTCCCCCGAGTTCTTCTCCATCCCGACTCCAGTTCTTTCTCCCCGCGC GGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCAGGTCTTTCTCCCCG CGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCC CCTCGCGGCCCCTCTCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCTTTC TCCCCGCGCGGCCCCTCTCCCGAGCTCTTCTTGCTCCGGACTCCGGGTCT TTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGG TCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCC GGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGAC TCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCG GACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTT CCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTC CTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTT CTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTT GTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCG CGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCC GCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTC CCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTT CTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCTGGGTC TTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGG GTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTC CGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGA CTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCC GGACTCCGGGTCTTTCTCCCCACGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0177 a0001c0001t0059g0177	1	364	0.0027	-1477	c.463 others(17): Show c.463-2787_463-1311del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP1B2_chr17_7645926_7662770	7661294	ACTCCCAA others(1469): Show ACTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGCCTAGCC TATACTAAGTTCTCTAAAATCTGGCAAGGCAAATAGGACCCCCTCTCCAT TCTGTTGCTTATTATTTACTTATTATTTACAATTTTATTATTTATGTTAT TTTATATTATTTATTTTATTTATTGAGACAGTCTCCCGCTGTGTCGTCCA GGCTGGAGTGCAGTGGCACGATTTCAGCTTACTGCAACCTCTGCCTCCCG GTTTCAAGGGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTATAGG TATGCACTACCACGCCTGGCTAAGTTTTGTATTTTTAGTATAGACGGGGT TTTGCCATGTTGCCCAGACTGGTCCGGAACTCCTGAGCTGAAAGCGATTC ACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGTG CCCGGCCTCCAGTATTTTGTTTATTTATTTTTTTTGAGACAGAGTCTCAC TCTGTTGCACAGGCTGGAGTGCAGTGGCACAATCTCTGCTCACTGCAACC TCCTCCTCCCTGGTTAAGAGATCCTCCTGCCTCAGCCCCCTTAGTAGCTG GGATTACAGGCGTGGGCCACCACTGCCAGGCTAATTTTTGTATTTTTAGT AGAGATGGGATTTCGCTATGTTGGCCAGGCTGTCTTGAACTCCTGACCTC AGGTGATCCACCTGCCTTGGCCTAAAGAGAGAGAGAGAGACGGAGTCTCA CTTTGTCGCCAGGGTGGAGTGCAGTGACAGGATCTCGGCTCATTGCAACC TCCACCTCCCGGGTTCAAGCAACTCTCCTGCCTCAGCCTCCAGAGTAGCT GGAACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTTGTATCTTTAG TAGAGACGAGTTTTCACTATGTTGGCCAGATGGTCTCGATCTCCTGACCT CATGATCTGCCCGCCTCGGTCTCCCAAAGTGCTGGGATTAGAGGCGTGAG CCACCATGCCTGGCCCAAATCCAGTATTTATTTAAACAACTAGTGACACT TACTCGTTCCTATACATTTATGATAAATTTACCCAACTCACACACACACA CAATGAAAATTTGGGATTCTAATTGAAATTGCATTATATTATATTTATCT CGAGATAATTGATTTTTCTTATTTTTTTAGTTTTCCCATCTGAGAATCTA TCATTTTCTTTGGATCTTGGCTTACGTCGTTAAATAAGGGTTTGTGGTCT TCTGCATACAGGCTCTGTGCCATTCCTTCTTTGTGTGTGCCATTCCTATT ACACATTTCTTAATGTTTATTGCTATTGTCTTTTTTTTTTTTTTTTTTTT GAGATGGAGCCTCACACTGTTGCCCAGGCTGGAAAGCACTGGCAGGATCT TGGCTCACTGCAATCTCTGCCTCCTGGGTTCAAGTGATTCTTCTGCTTCG ACCTCCCGAGTAGCTGGAATTACAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	-1476	c.54 others(11): Show c.5400_*6875del	ATP1B2	ENSG00000129244.9	transcript	ENST00000250111.9	protein_coding		3525		chr17	TogoVar
CD163L1_chr12_7349960_7449153	7437244	ATAGTATT others(1469): Show ATAGTATTTAAATAGTATTTAAAAGTATTACTTTTTATTTTAATAGTATT ACTTTTATTTTATTAATGAATATTATTTTTATTTTTATTTTTATTAATAT ACTTTTATATTTATTAAGTTCTAGGGTACATGTGCACAACGTGCAAGTTT GTTACATATGTATACATGTGCCGTGTTGGTGTGCTGCACCCATTAACTTA TCATTTACATTAGGTATTTCTCCTAATGCTATCCCTCCCTGCTCCCCCCA CCCCATGACAGGCCCTGATGTGTGATGTTCCCCACCCTGTGTCCAAGTGA TCTCATTGTTCAATTCCCACCTACGAGTGAGAACATGCGGTGTTTGGTTT TCTGCCCTTGTGATAGTCTGCTCAGAATGATGGTTTCCAGCTTCATCCAT GTCCCTACAAAGGGCATGAACTCATCCTTTTTTTTTTTTTTTTTGACACT GTATATTTATTTGAAAACCGGAAAATACAGGTTTGTGGCTTCAGGGAATC ACCCTTGTATACTGTGGTACATGATCAATGATCATTAAATCCTCTTCACA CAAAAGAATTTTGCTTCCTCAGTCAACCATATAATAATTCACAAAATATC AAATTCAAAACCCAACACCAGTTTTCCAACCCTCTTTTAGGAATTTTATT ATTATAAAAAAAAAAAAAGAAAATTCTAAGAAAGTTTTCCACCCATAGTC TTAACCAATCATGACTATTTTACTTCTCCATGTTCCCCCTTCTGGTCCTT GTACTTTTACATGCATAATCTTTTTTAAAATTCATTTTTGCTTACATTAC ACACATATTTTTACATGACTGTGTTCACATTTATGTAGGGTTTTTCTTCT CCACTGCATTTTCTAAGTTGTTCTATTTTGCTGTAGCACTAATGAAGATA ATACTGCCATAAATAACTATGTATGCACAGCTTTTCCTTCTTTAAAATGA TTTCCTTAAAATAAATTCCCAAAACTGGAAATAATGGATGAAAAAAATGA TGTTTTTTATAGCCCTTGATAAATATTGCATATATAAATACTCTCATAAT TTGGAAAATATATCCATTTTGCAAAGCCATATAAAAATAATTTTTATAAT GGGACAAATTCTCTATTAAATACATTTTTATAAGCATTAAAATACTGGTT AATGTAGTTTGTGTCCTATTATTTAATAGTGGTATACTCAAGACAACAGG GGAAATGACCAAGCAGGATGTGAAAAGCTAATAAAATAAGCTGATGAAGC TATAAACCTGAGTATACAATGCTCCATATATCATCTGAGTACCTCTAAAA ACCATCCTGATTTTTGCTCACAAATTAGCCTATAATTTTCTAGTCAAAAT CATTCTAAGAGAAACAAACCAGAGACTAAGAGATAAGCTGCAGTGTCCAA GAGCTGGAGGATCTTCATTTATGACCGCCCATGGTCATAAACACTTTCTC ATAGCTTGACTGTTTCCCTTTCCTTGC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	382	0.0026	-1476	c.124 others(17): Show c.124+2434_125-3551del	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
DPH7_chr9_137549444_137583925	137565278	ACTCTGTC others(1469): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGA AGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	333	0.0030	-1476	c.641 others(16): Show c.641-1600_641-125del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
IL1RAPL1_chrX_28582446_29961718	29582337	TAAAGATA others(1468): Show TAAAGATAGCATCTTTTTTTTTTTATTTTTTTATTTTTTTATTTTTATTT TTATTTTTTATTTTTTTTTATCATACTTTAAGTTTTAGGGTACATGTGCA CATTGTGCAGGTTAGTTACATATGTATACATGTGCCATACTGGTGCGCTG CACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCC TCCCCGCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTT CCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATA TGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTT TCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTAT GGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGT CTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAAT AATGCCGCAATAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTT ATAGTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTA TTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGT TGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCC ACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTC TATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGC ATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCC TATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAG GAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT TGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCCAAA ATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATC AATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGA GAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAA AATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAG AACTACAAACCACTGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAA GAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCA TACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCA ATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAA CCAAAAAAGAGCCCGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAG CTGGAGGCATCACACTACCTGACTTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	135	0.0074	-1475	c.704 others(19): Show c.704-86078_704-84604del	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
DPH7_chr9_137549444_137583925	137565810	ACTCTGTC others(1467): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	2	330	0.0061	-1474	c.641 others(16): Show c.641-2130_641-657del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241806497	TCCCTCCC others(1466): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGA CCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	310	0.0032	-1473	c.23 others(11): Show c.2332_*3804del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2211		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806497	TCCCTCCC others(1466): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGA CCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	312	0.0032	-1473	c.-27 others(11): Show c.-2780_-1308del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2695		chr2	TogoVar
PLS3_chrX_115556174_115655861	115565567	TTTATAAA others(1466): Show TTTATAAAAAGAGAGGATTGCTCAAGCTTTTTGGTTTGCTGGGTTTTATT TTTTCAAATATTCATAATCTGGCTTATTTCACTTATCAGTTGACTTTTCA AACTTTGATGCAATTGCATTGATCCAAGCTAAATACTTTGTTGGCAAATT GATGACTATTCAGGAAAGTGATCACCAGTGGGTTATTCCATGACTAATGT TAGTTCTTTAAAATAAAGAGGTGCCATTTATTTAATTCCTTGACAGGGAT TTTTGGTGCATTAAGCCTACTGATTTTATAATATGAGAAACCTTACATTT TCTTAAAAGTTTAGAAACGTATTTGATAATAAGGAGGTAGTGTTGTTTAT TGGAAAAGCATTGAGCATAGAATTTAGGGTCTTTTAGTCCTTTGCAGTCT GGACAGATAGATGATCTTAAGTAACTCATTGAAATTTTCTGTGGTCATAT CTGGGTTTCACTTTATTTTTAAGCCATGTGATTCCAATCTACATATTTCA CAGGCATGGTAAAAGGATAAGTGAGAAACGTGAAGCCTTGGCTTTTAAGC AGACAGGTGCTATATAAATTCAAAGTACTGCAGCAGTGTATCATAGAAAC ACTAAAGCTTTAACAAGAGTTTACAGAAATGGCAGGGTTCTCATCACGTA AGTCTTGCCACATTTTTCTTTGTCTGTAAAAGTTCTGCACCCATCCAATT TTTACAAGCAAAGGAAAAATAAAGCCAGACATATTATAATGAAAAATAAG AGACTAGGTTGATAACAATAGAATAAAAACCTACATGTGATACTTTCTTC TTCTTCTTTTGTTTTGTTCTGTTTTGTTTTGTTTTAAAGACGGAGTCTTG CTTTGTCGCCCAGGCTGGAGTGGTGCAGCGGCCGTGATCTCGGCTCACTG CAAGCTCCTCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTGTGCCCAGCTAGTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCCGTTTTGTTTTGTTTTGTTTTGAGATGGAGTCTCGCTCTG TCGCCCAGGCTGGAATGCAATGGCGTGATCTCAGCCCACTGCAACCTCTG CCTCCGGGTTCAAGTGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGAT TACAGGCGCGTACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAA TGGGGTTTCACCATGTTGGTCAGGCTGGTCTAGAATTCCTGACCTTGTGA TCCGCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACC GCGCCCAGCCCATGTGATACTTTCTTCTATTTCTTACCTCAAATATTGTG CAAGGTAGCCCGTTAAAGCCATTA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	252	0.0040	-1473	c.-9+ others(15): Show c.-9+4308_-9+5780del	PLS3	ENSG00000102024.19	transcript	ENST00000355899.8	protein_coding	1/15			chrX	TogoVar
SNTG2_chr2_945849_1372613	1343046	CCCCCTGT others(1466): Show CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGG CCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCA CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGC CTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTA ATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCT GTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTC ACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTG GCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCA GCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAG GAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCC CCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGTGGCAGCTTCCT CTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGA CTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACA GCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCA TAGGAAGAGTGGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0043 a0006c0010t0001g0043	1	185	0.0054	-1473	c.148 others(21): Show c.1489-24255_1489-22783del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	1394113	CGCTCCCT others(1465): Show CGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCT CCCTCCTTGTCCTCTGGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCT CCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTC GTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCC TCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGT CGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATT GAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGT GCTTACTGAGTGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCACTCCCTCCTTGTCCTCCGGAGTCGTATATTGAGTGCTTACTG AGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACTCCTTGTC CTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCT GGAGTCGTGTATTGAGAGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACT GAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTCATCCTCCGGGGTCGTGTATTGAGTGCTTACTGAGCGCCACCTC CTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACCACCTCCTTG TCCTCTGGAGTCATGTATTGAGAACTTACTGAGCGCTCCCTCCTATGTCC TCCGGAGTCCTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGGGT AGTGTATTGAGTGCTTACTGAGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	39	0.0256	-1472	c.107 others(21): Show c.107-107250_107-105779del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1403080	ACCTCCTC others(1464): Show ACCTCCTCATCCTCCAGAGTCGTGAAGAGAGTGTAAAATCGCTGATCACT CCAGGTGGTGAAGGGTGGATGTGAAGTAAGGAGATTAAGGCGACTTACTC GTCGTCCTGCGTAGTGAAGAGATTGTAAAAAGAGGGCTACATCCAAGTCC TCATGCGTGGAGGATGAATTGAGAAGATCCCCCCACCTCCTCGTCCTCCA GAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGT CGTGTATTGAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTG AGAGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGA GCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGC TCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGCTCCC TCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCT TGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATC CTCCAGGGTAGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCC AGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGT GCCACCTCCTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTC CCTCATCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGTGCCACCTCCTCA TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCT CCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAG AGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGT ATTGAGTGCTTACTGAGCGCTC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	-1471	c.107 others(19): Show c.107-98278_107-96808del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
HAPLN3_chr15_88872294_88900544	88892389	AGAGGTTG others(1464): Show AGAGGTTGCAGTGAGCCGAGATCACACCTTTGCACTCCAGCCTGGGCGAC AGAGTGAAACTGCATCTCAAAAAAAAAAGAAAAGAAAAACAAAAGGAATT ATAAGAAAAGATCAGCCCTGTGCCCAAGAACAAAAGGCCAGGAGGAAGCT GGCCATTTTCCAGGCCTCTCTGAGAGAGGAGCAGCACACAGGCCCAAGGT TTCAAGTTAAACTCATTGAGGTTGGGTCTTGGCTCTGCCACCTGCTAGCT GGGTGACCCTGGGAAAGTCATTTGACCTCTCTGAACAGAAAATTTCCTCT CTCCAGAGAAGACTAAAGGGGAACTCGGGGGCTGAGGACAAGCACAGCCT TGAATGCTAAGGTCAGTGCACAGGACAGAGTCCTGTGTGGGAGTCAGGAG TGGCAATTGCCACTTGGTTGCTGCCTTGCCTCAGGTCCATCTCTGACCAT CCCTGACCACTACCACTGAGGGGAGGGATGGGTAGCCTCTGCTCCCCTAC CATGGCTATCCAGCCACCAACTCCTCAGGACCACCACAGAGGTGCCACCA GCTGGAAGGCCCAAGACCAAGTCCAGCCCAGTCACCTTGGCAGTGGATAG TTCCCCAAATCTTCTGGAGTCCTGTCTGGGCACTCAGACCTGGGCTCGGT ATTGGAGCTGGACACACTGCATCCTGCTGAGTGACTTCGGGCAAGTTCAC CTCTCTGTGCCTCCATTTCCTCATCTGTAAAAAAAAGGAACTTAAGGCCG GGTGCAGTGGCTCACACCTGTAATCCTACAGCATTTGGGGAAGCTGAGGG GGTGGATCACCTGAGGTCAGGAGTTCGAGACTGGCCTGGCCAACACAGTG AAACCCCCATCTCTAATGAAAATACAAAATTTAGCTGGGTGTGGTGGCAG ATGCCTGTAATCCCAGCTACTGGGGTGGCTAAGGCAGGAGAATTGTTTGA ACCCAGGAGGCGGAAGTTGCAGTGAGCCAAGACCACACCACTGCACTCCA GACTGGCCGACAGAGCAAGACTCCAGCTCAAAAAAAAAAAATGGGCTGTG GTGACAATTATAGAAGATGTATGATGTCTGGTCCCTGGCATGCAGCAGGT GCTCAACAAATGAACATGGCAAAGATTTCAGGCTCTAGAAGCAGATTGGC TGCCTGCATTCAGTTCTGGCTCCACCCACTTACTAACCCTCTGTCATTGG ACAAGTCGCTGCACCTCTCTGAGCCTCAGTTTCTTCATCTTTAAAATGGG GGTCACAAGCCAGGCACAGTGCCTCATGCCTGTTATCCCTGCACTTTGGG AGGCTGAGGTGGGCAGATCACCTGAGGTCAAGAGTTCAAGACTAGCCTGG CCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGAGT GTGGTGATGAGCGCTTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGAAG AATCGCTTGAACCCAGGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	434	0.0023	-1471	c.-48 others(17): Show c.-48+1599_-48+3069del	HAPLN3	ENSG00000140511.12	transcript	ENST00000359595.8	protein_coding	1/4			chr15	TogoVar
KCNIP1_chr5_170499020_170741632	170702730	TGATTAGT others(1464): Show TGATTAGTCTCTGTGACCCCAAGGATGCCTCCTGAAATTGCTGATTCAAT TTCTCCTAATAAAATAGGAACAATAATTAGCTAATAAGAAATCAACAATT AAAGCTATGAGAGAATTAAGTGAGATCATGTAAGCAAAGTACATGTCACA GTGCTCTGCAAATAGGCAGTGCTCAGAAGTGTCACCTTTTCTCTTTCTTC TCTGAGCCTCCGTCTTCTCTTCGGTAAAATGAGAATAATATTATGCATAC CTCACAGGGGTTAAGCAATGTGAAAGTACTCTGTAAAGTATAAGGCTGAA ATGTACTGGGCTCAGAACCTATAGGTCTGTTCCATTCTCGACACACGTGA TATTAGCAGCACGGTACATTTAAGGACACGGCTTGATTCTTTAATCACAG GGCATCCTGTCTTCTCCACATTGCTTGGGACCCCAAAAAATGAAGTTCTG TCATGTCTCTAGACCACCACCAAACACATAAAAGTCACTTAGGAAAACAT GGTAGGAGGCAGAGGAAAGGAATTGTTGAACAGGGATTGCAGATTCAGGT ATATAAACGAGTGATGATGACTCTAACAACAGCTCTTGGTCTTAGTGTTG GAAATGTAATAGGGAGTAGTGGGGACTGCGGTTTAATTGTTGCCGTGTGG GAATGTGGGCCTGGCATGGCCATAATTTCAGATTTCTAAAGGAAAGCCAA AAGTTCATATTTTTATGTGAAATAAATGTTGATAAAGTTCACACTTAAAT GAAGTGAAACAGACCAGGGCTGGTGGTTTATACCTGTAATTCCAGTGCTT TAAGAGGCCGAGGCAGGAGGATCACTTGAGGCCAGGAGTTCAAGGCTAGT CTGGGCAACACAGTGAGACCCCATCTCTACCAAAAAAAAATTAATTTAAA AAATAAAAGAAGTGAAACAACAGTACCCTGTGGGCTGCCAGATTGTGATT TCTGAACTAAACTGTCAGATTACAAAGTTACCCGCTAAATTAGCCAAATA CTTTCCAGATATTCCCTGGGCCACTGTCTCGGGACTCTTAATATATTTTC CAATTAGTTCCTTTTAGTGCTACATACACACTTTTAGCAAATAATGAGCA CTTACTAGTCACTTTCTATGTGCAAAGCAGATATTAGACATCACAGAGGG AGTGAGATACCGAAAACAAAAATAAAACAAAAATAAGCACAAGACACAAT CTCCGCCTACCCCACCCTTGAATATGAAAACTGTGACACCCAAAGGTAGA TTTTGATACCTGCTGGGTGATTGCTAGAGATAATAAGTGCTTTGGGAATT TGGACAGAGAGAGCTTTTTTTTGCAGTGGTCTGAGAGAGCTGCCCAGAGG AGATGGCACTTACGCCATGTTTTAAGGGTGGATAGGATTAGTGCCAGATG ATCACATGCTCTGGTAGACAGGGGTCTGTGCACCAGTAGATTCTGGGGCT ATTGCAGAGGACTCATGACAGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00621.hp2 others(74): Show HG00280.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18941.hp1 NA18950.hp1 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA19002.hp2 NA19011.hp1 NA19030.hp1 NA19056.hp1 NA19063.hp1 NA19066.hp2 NA19070.hp1 NA19081.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(74): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0067 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0044 a0001c0001t0008g0063 a0001c0001t0008g0070 a0001c0001t0008g0113 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0012g0003 a0001c0001t0016g0016 a0001c0001t0020g0004 a0001c0001t0025g0094	77	218	0.3532	-1471	c.62- others(17): Show c.62-15711_62-14241del	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHH1_chr14_67528290_67594612	67536095	TCTCAAGG others(1464): Show TCTCAAGGAATGTTGTACCTGGTTGTCCTGACCACTTCTTTTGGTATTGA GGTTCCTGCGGCCTAGGACATGCTCACCTTCTCTGTCTCCCCGGACATTG TGTGGAATGTCATGTAGGCACCCAGCAGTGGCCAAATGGATGTTGTTAGC TTGATCAGATGACAGTGCTGAGATCAGAGGAAGTTGTCCCTGTGTACACT CACACCCTTCTCCCAGCCTCATCCCCAGAAACGGGACACAAAGCTGTTTC TCTCCCACAATTGACAAGTAGTCAGCCACGTCTGGCAGAGCACTTTTAGA AGATGGTGGTAGCCCCTCACTAGCAAGTGGAAGTCATACAGATACTCACA CTCAGGGAATGAACCATACTGAGGCAATATGAGAGAGCCCAGTGGAAACT GTGCATATAACAGAAGCCCCGTTGCCTTCCAATGCCTCCTGCATCCTCCA CAAGATAGAGGCAATGAGCTATTTTGAGGCCTGTGGTGACCTCTGACCTC TTTCTTTTAGGGTCCTGTATTGATTAGCTACCTTTGTAGGGAGCTACCAG GATATTCAGGCTGTAGACTTGAGCCTCAAAAGCCACAATATCTTTATTCA TCTTTATATCCCCAATCTTGCACACAGGACTCACTTAAAAGTTGTTTGTA TTAAACTTAATCTTGGGGTCGGGAGTGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACC AGACTGGCCAACATGGTGAAACCCTGTCTCTACTAGAAATACAAAAATTA GCCAGTGTGGTGGCATCCGCCTGTAATCCCCGCTACTCAGGAGGCTGAGG CAGGAAAATTGTTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCCGAGATT GCACCATTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAATAA TAATAATAATAAAATAAAAACTTAATCTTAGGCTGGGTGTAGTGGCTCAA CACACTTTAGAAGAATGAGGCAGGTAGATCACTTGAGCCCAGGAGTTCGA GACCAGCCTGGGCACCATGGTGAAACCCTGTCTTTACAAAAAATACAAAA ATTAGCCAGTGTGGTGGCATCCACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATTATTTGAACCCGGGAGGCGGAGGTTGCAGAGAGCCGA GATTGCACCATTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCA AAAATAATAATAATAATAATAATAATAATAATAATAAAAACTTAATCTTA GGCTGGGCGCAGTGGCTCAACACACTTTAGAATAATGAGGCAGGTGGGTC ACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCACCATGGTGAAACCTTG TCTTTACAAAAAATACAAAAATTAGCCAAGCACAGTGGTGCACGCCTGTA GTCCCAGCTGCTTGGGAGGCTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02451.hp1 others(1): Show HG01891.hp2 HG02258.hp2 HG02451.hp1 HG03139.hp1	a0014 a0014	a0014c0033 a0014c0083 a0014c0033 a0014c0083	a0014c0033t0006 a0014c0083t0001 a0014c0033t0006 a0014c0083t0001	a0014c0033t0006g0012 a0014c0083t0001g0357 a0014c0033t0006g0012 a0014c0083t0001g0357	4	412	0.0097	-1471	c.-35 others(17): Show c.-35+2698_-35+4168del	PLEKHH1	ENSG00000054690.14	transcript	ENST00000329153.10	protein_coding	1/28			chr14	TogoVar
ZCCHC8_chr12_122466600_122505932	122467309	GAGATCGA others(1464): Show GAGATCGAGACCATCCTGGCTAACATGGTGAAACTCTGTCTCCTTTTTTT TTTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTGTCACCCAGG CTGGAGTGCGGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCTGGG CTCACGCCATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACGACAGGCG CCCGCCACCACGCCCGGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTT TCACCGCGTTAGCCAGGATGGTCTCTATCTCCTGACCTTGTGATCCGCCC GCCTCGGCCTCCCAAAGTCACGCCTGGGACTACAGGTGTGAGCCACCGTG CCCGGCCAATGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCAGAGGCAGGA GAATGGCATGAACCCGGGAGGCGGAGCTTGTAGTGAGCCGAGATTGCTCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAATTTACCTAGAGGGAAAAAAAGTAAAAAAA CCCCAATTCAAGACAGAAAAAAGCAAAATGATTCCAGCCGAGAACTTGAA GAATAAAATCAACCAGGAGGACGCTTCATGTTAGTAGAAAGTGGACGGCA TTTTCACCATGTAAGGAAATGTGACCTTTTGAAAAAAGAACGAGGTCGTT TTCTATTTTAATAAGGGCAGTTCCTTCTTTCCACTTACCTGCTTCTAGGA GACAACAACAAAGAGCTGGCCTTGTTTTAGCAACCTGCACTGCAGTTTAC ATTCCCTTTAACCCAAGACAAAGATTAAAGAGATATCCCCACCCCTGCTC CAAGTCAATCTTGAAGGACAAACGTCTGGTTCTTACCTCATCTACCCACA CCTGGAACCTGTCATGGCATGGGCAAGTTGAAACAGTAACTTGTTCCTCC ACCCAACAGTCTTGCAATACTCCAAAACAGCAAACAATACTTCTTTATTT TATTACTTTAATTAATTAATTTATTTTTTGAGACGGAGTATTGCTCTTGT TGCCCAGGCTGGAATGCAATGGTGGGATCTCGGCTCACCGCAACCTCTGC ATCCCGACTTCAGATGATTCTCCTCCCTCAGCCTCTCGAGTAGCTGGGAT TACAGGCATGTACCACCACGCCTGGCTAATTTTTTTTTTTTTTTTTTTAG TAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCCGACC TCAGGTGATCTGCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCGT GAGCCAAAGCACCCGGCCAACAATATATTTTTAAAATGGGGCACCTGCCG GCCGGACGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCAGATCACGGGGTCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0058 a0001c0001t0015g0058	1	366	0.0027	-1471	c.47 others(11): Show c.4717_*6187del	ZCCHC8	ENSG00000033030.16	transcript	ENST00000633063.3	protein_coding		4290		chr12	TogoVar
ASMTL_chrX_1398139_1457909	1408124	GCAGGAGG others(1463): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCCCTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAAC TATGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAG TGAACTATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGC TGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTC AAGGCTGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGC TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGG AGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCAAAT GCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACT GCACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01346.hp2 others(6): Show HG00558.hp1 HG00735.hp2 HG01346.hp2 HG01975.hp2 HG03834.hp1 NA18963.hp1 NA19011.hp1 NA19064.hp2 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0003c0002 a0003c0006 others(3): Show a0001c0001 a0003c0002 a0003c0006 a0004c0007 a0004c0009 a0009c0020	a0001c0001t0001 a0003c0002t0001 a0003c0006t0001 others(3): Show a0001c0001t0001 a0003c0002t0001 a0003c0006t0001 a0004c0007t0001 a0004c0009t0001 a0009c0020t0001	a0001c0001t0001g0080 a0003c0002t0001g0147 a0003c0006t0001g0010 others(6): Show a0001c0001t0001g0080 a0003c0002t0001g0147 a0003c0006t0001g0010 a0004c0007t0001g0007 a0004c0007t0001g0026 a0004c0007t0001g0135 a0004c0007t0001g0137 a0004c0009t0001g0030 a0009c0020t0001g0141	9	82	0.1098	-1470	c.164 others(19): Show c.1645+3138_1645+4607del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408156	GCAACACT others(1463): Show GCAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTG AACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATA CTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTG CAGTGAACTATGATGACAACACTGCAGTCCAGCCAAATGCTGGTACTCCC AAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAA GGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGGTA CTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAG GTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAATGC TGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGC AGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCCCTCCAGCCA AATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTG AGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCC AGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATC GCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGC ACTCCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGA GGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAAC ACTGCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGG CAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATG ACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGC TGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTA TGATGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGG GAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTG AACTATGATGGCAACACTGCACTCCAGCCAAATGCTGCTACTCCCAAATA CTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTG CAGTGAACTATGATGACAACACTGCACTCCAGCCAAATGCTGGTACTCCC AAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAA GGCTGCAGTGAACTATGATGA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0004 a0003c0002t0001g0004	1	166	0.0060	-1470	c.164 others(19): Show c.1645+3106_1645+4575del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1408229	GCAGGAGG others(1463): Show GCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCT CCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCAGTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGA TGACAACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAG GCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGCTGCAGTGAAC TATGATGGCAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAATACTC GGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAG TGAACTATGATGACAACACTGCCCTCCAGCCAAATGCTGCTACTCCCAAA TACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGTGCAGGAGGTCAAGGC TGCAGTGAACTATGATGGCAACACTGCACTCCAGCCAAATGCTGCTACTC CCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTC AAGGCTGCAGTGAACTATGATGACAACACTGCAGTCCAGCCAAATGCTGG TACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGG AGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGCCAAAT GCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGC CCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACTGCCCTCCAGC CAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGATCGCT TGAGTGCAGGAGGTCAAGGCTGCAGTGAACTATGATGGCAACACTGCACT CCAGCCAAATGCTGCTACTCCCAAATACTCGGGAGGCTGAGGCAGGAGGA TCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACAACACT GCACTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGAGGCAG GAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAACTATGATGACA ACACTGCCCTCCAGCCAAATGCTGGTACTCCCAAATACTCGGGAGGCTGA GGCAGGAGGATCGCTTGAGCC	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	124	0.0081	-1470	c.164 others(19): Show c.1645+3034_1645+4503del	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
DIP2C_chr10_269201_694668	321800	CTGTTAGA others(1463): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGC TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCT GTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGT TAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTA GAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAG AACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGA ACAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAA CAGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAAC AGTCCGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACA GTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAG TCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGT CAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGCGCTGTTAGAACAGTC AGTCGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCA GTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCG TCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGT CGGGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTC GGGGGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCG GGGGTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGG GGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGG GGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGG GTGCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGG TGCGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGT GCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGG GGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0081 a0001c0021t0002g0081	1	71	0.0141	-1470	c.392 others(19): Show c.3924+3736_3924+5205del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
MAML2_chr11_95971598_96348195	96268760	TCCCCTGC others(1463): Show TCCCCTGCACACGATCTGTTGTCTGCCGCCATGTAAGATGTGACTTTGCT CCTCATTTGCCTTCTGCCATAACTGTAAGGCCTCCCTCACTATGCAGAAC TGTGAGTCAATTAAAACTCTTTCCTTTATAAATTACCCAGTCTTAAGTAT GTCTTTATTGGCAGCAAGAGAAGAGATTAATACAGTATATACATCAAGCA AACACTAAATTGCTCGAATAAATGCATATTTGGATTAGAATAAATCTCTA AAACTGAGAAACATACTCAGAAAGTTATGAAACAATATAATGTTGGCATC ATAATCCACTTCATTCATATACCATGGAAATGACTTGGTTATTTTTATTG GAACTGCTAGAGGGAATCAAATATGCACAGACTTTTGAGAAATTTCAAGT TGCCTGTTATTGAAGATGATTAAGACGGATGACTTCATGGTGGGCATACT GCATCAGGTAAGGGATTGAACTAGGTTTCCTCTTAGCTCTTTTCCAAAGT GTCTATGGTTCTGTGAATCTGGTGAGATTTCTATGGTAGAAAGTCACATG AATCATCATTGTAGGTTTATGCTTCAGCTCTCCATTCAGCCTAAATAGCT ATTGTATGTTATGTTCCTGAGAAGGTATTAACATGGTTGTTACTGAAGGG ACCAAGGCTATTTCCTTCTGTTTCCTTCCACTCACTTTGGCATGTCCTAG TAAGTATATATATAATCCATTAAAAACCTCTTTTTGCTTTATTTTTTGAG GTACATTCTTTTTATTTTGGGGGGAAATGTCTTGCTCTGTTGCCCAGCCC AGAGTGCAGTGGCACAATCTCAGCTCACCGCAACCTCTGCCTCCTGGGTT CAAGTGATTCTATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTCCAT GCCACTATACTCAGCTAAGTTTTGTATTTTTTATAGAGATGGGGTTTCAC CATGTTGGCCAGGCTGACCTCAAACTCCTGACGTCAAGCGATCTACATGC CTTGGCCTCCCAAAGTGTTGGGTTTACAGGTGTGAGCCTCCATGCCCAGC CTTGAGGTGCATTCTTCATTTGGCTTCCAGGTTGTTCTCCTTCCTCACTT ACCACTCCTTCTAGTACCCTCTGGGAGTTTCTATCCCCTTGACCTCTAAA CGTTGGGAGCCCCAGAGCTCAGAAACCTCTCGTTAAACCTCATGGCTTTA AATATTTAAATTAGCATAGCACTGATGACTGACAAATGTATGTCTTTAAC CCAGACATCTCCCCTGAACTCCAGTCATATACACAAATGATATCTCCTTA GATGGCTAAGACTTGACATCCAAAACTGAGCTCTTGATCTTTTCCTCAAA ACTCAATCCTCCCCAGTTTTCTTATCCTTAGTAAAGAGCAACCCCATCCT TGTAGCTGCTCCAGTAAAAAGACTTGGCATCTAGGTTGATTACTCTTTTT TTAAACCTTACATCCTATCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00642.hp1 others(58): Show HG00140.hp2 HG00438.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18953.hp1 NA18953.hp2 NA18979.hp1 NA18983.hp2 NA18994.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19060.hp1 NA19084.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0010 a0011 a0015	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0021 a0002c0003 a0002c0010 a0004c0007 a0005c0009 a0006c0011 a0010c0016 a0011c0017 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0002t0018 a0001c0002t0032 a0001c0002t0035 a0001c0002t0040 a0001c0004t0006 a0001c0004t0017 a0001c0004t0036 a0001c0006t0010 a0001c0021t0004 a0002c0003t0001 a0002c0003t0007 a0002c0003t0025 a0002c0010t0004 a0004c0007t0007 a0004c0007t0012 a0004c0007t0019 a0005c0009t0023 a0006c0011t0008 a0010c0016t0009 a0010c0016t0014 a0011c0017t0002 a0015c0018t0003	a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0155 others(58): Show a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0190 a0001c0001t0001g0215 a0001c0001t0002g0050 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0157 a0001c0001t0003g0216 a0001c0001t0005g0017 a0001c0001t0005g0034 a0001c0001t0005g0051 a0001c0001t0011g0090 a0001c0001t0011g0183 a0001c0001t0012g0126 a0001c0001t0012g0130 a0001c0001t0013g0057 a0001c0001t0015g0191 a0001c0001t0016g0021 a0001c0001t0024g0026 a0001c0001t0045g0224 a0001c0002t0001g0203 a0001c0002t0002g0011 a0001c0002t0002g0037 a0001c0002t0002g0041 a0001c0002t0002g0068 a0001c0002t0003g0132 a0001c0002t0003g0173 a0001c0002t0004g0198 a0001c0002t0005g0036 a0001c0002t0011g0181 a0001c0002t0011g0182 a0001c0002t0011g0223 a0001c0002t0013g0035 a0001c0002t0018g0032 a0001c0002t0018g0033 a0001c0002t0032g0087 a0001c0002t0035g0202 a0001c0002t0040g0214 a0001c0004t0006g0113 a0001c0004t0006g0141 a0001c0004t0006g0212 a0001c0004t0017g0031 a0001c0004t0036g0114 a0001c0006t0010g0018 a0001c0021t0004g0222 a0002c0003t0001g0170 a0002c0003t0007g0073 a0002c0003t0025g0069 a0002c0010t0004g0174 a0002c0010t0004g0175 a0004c0007t0007g0071 a0004c0007t0012g0088 a0004c0007t0019g0098 a0005c0009t0023g0048 a0006c0011t0008g0129 a0010c0016t0009g0070 a0010c0016t0014g0072 a0011c0017t0002g0058 a0015c0018t0003g0161	61	228	0.2675	-1470	c.513 others(19): Show c.513+71153_513+72622del	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4			chr11	TogoVar
MAP1LC3A_chr20_34553718_34565345	34554628	GCCCAAAG others(1463): Show GCCCAAAGTGCTGGGATTACAGGCATGAGACACCGCGCCCGGCCTGTTTT TGTTTTTTGAGATGGGGTCTCTCGCTCTGTCGCCAGGCTGGAGTGTAGTG ACACAATCTTGGCTCACTACAACCTCCACCTCCCTGGTTCAAGCAATTCT CATGCCTCAGCCTCCCACGTAGCTGGACTACAGACACGTGCCACCATACC CAGCTAATTTTTTTGTATTTTGTAATTTTTGTATTTTGTATTTTTTGTAT TTTTTTTTTTTGTAGAGATGGGGTTTCACCATATTGCCCAGGCTGGTCTA CAACTCCTGGACTCAAGTGATCTGCCTGCCTTGGCCTCCCCAAGTGCTGT GATTACAGGTGTGGGCCACCACACCTGGCCTATTTTTTGTTGTTGTTGTT TTTTGTTTGTTTTCAGCATTTTTTGTTGTTTTTCTGAGAAAGGGCCTCTG TCACTCAAACGATCCTTCCTGAGTAGTTGGGACTATAGGTGTGTGCCACC AAAGCCAGCGAATTTTCTTATTTTTTTTTTTTTTTGAGACAGAGTCTCAC TCTTGTCACGCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGAAAC CTCTGCCTCCCGGATTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGC TGAGATTACAGAATGCACCACCACACCCAGCTAACTTCTGTATTTTTAGT AGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCT CAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTG AGCCACTGTGCCTGGCCTAATTTTCTCATTTTTGTAGAGACGGGGTCTCA CTATGTGGCCCAGGCTGGTCTCAAACTTCTGGGCTCAAATGATTTTCCAA CCTGGGCCTCCCAAAGTGCTAGGATTACACTATTACTCCTTCTTAAATTT CTTTGAAACTCTGCTCATGGATTTTCTGTATTTATTATCTAAGTAATACA TCTATGTAATAAGGCTATAAATCTGATTTTTTTTTTTTTTAAAGAAATGG ATCTTATTTTGTCACCGAGGCTGGAATGCAGAGCTGCAATCACAGCTCAC TGCAGCCTTGAACTCTTGGGCTCAAGCAATTCTCCAGTCTGGGCCCCCCA AAGTGCTGGGATTACAGGTATGAACCACCACACCTGGCCTGCCATGGCCC CCCTCCCAAGTTTTCTTTCTTTTTTTTTTTTTTTTGATGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCCATTTACTGCAAGCTC CGCCTCCCAGGTTCGAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG AACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCTGCCTTGGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-1470	c.-42 others(11): Show c.-4240_-2771del	MAP1LC3A	ENSG00000101460.13	transcript	ENST00000360668.8	protein_coding		4089		chr20	TogoVar
LOC101059948_chr19_49012968_49025549	49024080	CTCGGGGG others(1462): Show CTCGGGGGGCAAGAGGTAGACAAGGCCAGGGGGGCGCAGGAGTGGCTCAG CGGAGCGCCCCAGCCCTCTCCTCTCACTGGTCCAGCGCCAAGGGTGAGGC GGAGACCACGGTGAAGTGACCTCAGAGACTCAGTCGTCGAGTGCTAGGGA CTAGTCGAGGCTGGAGGCACAGGGAGTAGGGTGTAGGAAGGCCTGCCTCT GCCTATGGTGGGGTCCTGGGAGCCAGGAGGAGGCCGTGACCCGAGAAAGG TGCTGGACTGAAGCCTCAACCCTCCTCTACTTGAGGCTTTCCTGCACCAC AGTCCAACCTCCCAGGAGGGGCGCGGCTTCGGACTTAGTTTCTGCCCAAT GAGAGAGGGCCTCCCCGTGACTGTGCTGCCAGGGAAGCCACTTGACCCTG GTGCCGCCAACGAGGGATTCAGCCCGAGCCCCACCTCTCCCTTAGGGACC TCCGCCCACCCTACCCTCAAGCCAGGATGCCCGGAGCTGTCCCCGGAAAT GCGTGTGCTTCAGGTGATTTAACTGATTATTGAATAGGCCCGCAGGAGGT GTGTCCTGCCCATGGGGCCGAAGCCTCGGAGGACATTATCTGGACTTAGT CCCTTCCCCGCGATGCCATCAAGCTGGACAATTTTAAGGTCTGTTTCTTT CCCAATGTAGGGTATAGGTTGGCACAGGGAAGAGGGCTAGAAACCTGACT TGAGCTCCCCGCCCAGGGCTGAACTCTCCAGCATCCTGATCACTTCTCAT TGAACCTTGCTTATACTCCCCGTGTGATCGGTAGCTCTTTATCTCAAAAC AGAATATTCTAAGCCAACCCCTGCCTGCTCTCACCAAGTAAGATTTCTCA TTTGAACCCCAGCTCCCAGATACTTAAAGGCCTTCTGTAGACCATGTCCT CAAGGTCCCCTGGCCATCTGCTTGCATGTTCCAGTTTCCCTCCTCCCCCA TGCACATCGTGAAATGTGCCCTCCCACTCCCCAGGATGAGCAAGGTGGTG TCCTCTGTGACTGAGCAGTCAGCAACTTAACACCAAAGGTCACCAATGAT CAAATCCATGAGAGTTGATCCGAGGAGTTATGTATTAGGGCTACGAAAGA GTAAACACTCAGTAAATAGTGGCTATTATTATTATCATCATCATCATCAT CATCATGATTACCCTCAAGTTCCCCTGGGAGAGCTCCTATTCAACCTTCA AAACCACATGTGGTGGCACCCATCCTGCAGAGATTGAGCTCAAATTCAGA GAGTTGTGATTTTGTGATGATTTGATGAGTTCCCCAACTGGGGTCCGTCC GTAGAGCAGCTGGGCCAACCCTGAGGTCTCTCAGCATCCAGCTCTGTTCT TTTTCTGCCTGACCAGTTCCTGGGTATAAGTCTCAGGCCCGGCCAGTCCG GCTGAGGAGTGTGCAGACACAGGCTGTGCCAGTTTGAATCCATCGCCAGT CCACACGGCCCTGGGCATCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	-1469	c.-50 others(11): Show c.-5034_-3566del	LOC101059948	ENSG00000268655.3	transcript	ENST00000637680.2	protein_coding		3532		chr19	TogoVar
ZNF516_chr18_76352682_76500242	76392841	AGGCAGGT others(1459): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTA GTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCC GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	338	0.0030	-1466	c.181 others(21): Show c.1811-14004_1811-12539del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
FARS2_chr6_5256513_5776583	5728237	GGGTTTGT others(1458): Show GGGTTTGTTTCAAAATAGCCTAATAGCTGGGAATGGGCTGGTTTGGCTTG CTAATGTGCTTAGAAGGGTCTTGAGTGCTTTCACTCAGTGACATTTGGAG GGGGATTATGGATTTTGGAGCATTAAAGCTTTATTGTTTTTGTTTTTTGT TTTGCTTTGCCTGTTTTTGGAGTGAGGTTTGCTGACGCTAAAATGACTGT TTATTCATGACAGGGAGGGGGTGAGGAGGTATAGGGAATAATTCTACTCA TGGAAAAAGGATGCCTTCTTCAAAATGATTTTTGCTGTTGGCAAAGCTGA GAACACACTCACATGATTCTCTGCCTGCAGTAAGTGACAGGAAAAACACA TTGTGCGCCGTGGATAGCTATAACTAGCAGCAAATTGGTTTAAATCATAA AGAAAGGCTCAGTATACACAGCTCCCTCTTCTTCAGGGAAGTCTAGCTGG AGGAAAGAAATGGAGGCTGGGTTTAGAGTACTAGAAGTGGCAAGTCCAGC CTTGAGCCTCCCGCGGTCGGGTTTCTTCAGAAAATAACCAGGTACTCTCC CGATGTGAGCTGTGGATTTGGGTGAAACTTTCCTCTCTCAGCCACTGCGC TGGCCTCCCTCGGCAACCCTACGTTGCAGGGACTGCCTGCCCCGAAACCC TGCCTGAGCTCACCACTGTCCCTTCACTGACTTTTGAAGGTGGTAGACGG GGAGAGATATTCCTTGTCCCCAGCACTGGCTGGTGTGCTCTTGACAGTGG CCTGTTCTGAAGCCTGCTAGGACGCCCGCTACCTGGGAAGCTGGCAGGAG ATTCCGATGGCTTTCGGCATCTGCAGTGCTCACTCATACTGCAGATGACT CTTATTTCCGTTTTTCACAACTTAACTGAAAAGGGCACTTAAGCAAAGCA GGCATTTAGTCCCAGGTGGAATCAATCTTCCTGCTGCAGGAAAGAGCCAG GCCCTGGGCAGCTGGTGTTTGGAGTTGGTCTTGAGTGTGTGTTGACTCAC CTTCCTCTCGAGGTAAAGGAAATGAATAGCTCGTGCTAATGAATGAGGTG TCCCCAGAGCATCGTCAGTCTCTGGAGGTGTCCAGTTAGGCCCTGTGACT GTCCCAGCCCTCCCACGGGCACAGCAGAGGCGAGGCTCAGAGCCTGCCCC TGGAATGGGGGCGTGGACGTCCCAGAGAGCAGGGGCTGAGGACACTGGAG TGGGGTCACTGGAGGAAATGGGCAAAGGCAGCTGAGTAGACACATACCTT AGAGGCTAGGGAGCTTGTCCAGAAAAAGCAGCCTGCACCTGGCCGTAAGA TTTTCCAAAGATGAGGTTTATGCTCATTGTATTTTTCTCTTGGAAAATGT TTAGGGTCTTTTGCAATGCTTTGTCCTCCTCGGTACTCAGAGGACTGCAT CTGCCTTTCCCTCTTCTTTCCCCTTCAAGGATGGACGTGTAGGTTACCCA CAAGTACCTGTGCCCT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18964.hp2 NA18962.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0020 a0001c0001t0001g0042	2	168	0.0119	-1465	c.121 others(21): Show c.1218-43053_1218-41589del	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6			chr6	TogoVar
SLC12A8_chr3_125077644_125217748	125182771	TCTGGGAT others(1458): Show TCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTGGCCTTGTCCCCA TTTTTGTAAAAACAAGCAAGCACTTCAAAAATCCATAAATACATGTGTAT AAGCCGAGGGAAATGTTCCAAAAGAGAACACTGGGATCACCTCAAGGGTG TGGGGGAAAGCTCTTTATTTTCATTGTCTCCAATGTGTTAACTGACTACA ATGAATATCATTATGTAACTGTCAAAGAATTTTATTAAAAAATACAAGCA AACATATTAAAAGTACCCTTATGTTTACGCAAAAACTAAATCAGGGTATA TCATCACCCTGTCTGCCCAGGTTTAGGGAAGCAGCCCAGGACTCAAGGCC TTCGTCCACACACTCAGCAACTGCCCAGCCTTCCCTAGAGCAATCCAGCC ACCCCAGAGGCGGTACCCCTTCCAACCTGAATGCTGCTTTTCCTTGGAAA ACATTCCTGGTGGTTTGTTTAATGTGTAAATGTCTTAAGGGTTTGTTATA CGTTAAACGTATTCTATTTCCTCCTAAATCTTAGACCAGGCATTCCTTTT CTTTTTCATTCTCCACAGAGAAAAGCCTAATTCCTTCTCACAAGACACAG TGGGTGTTGCTCACCATTTTAAAGAGAGAAGGTGGCCTATTTTCAGGGTG TAATGCTTCCATTCCAAGGTAATTCTTTTAGCAAAATTGCACCTTGACAA TCACAGGCATTTTCCTTCCACCTTACCTGGAGGACCAGCGCTGCCCCTCA ACACCCCTCCCCTTCTGACACAAACTTCCAGGTTTAAGGTTAAAGAGTTG GTGGATTAACACATATGTCCTGAATATGCGTTAACACCCATAACAAAAAC TCCAGGCCTATATCAGGTCCATAAAAACTTTCCAGTCATTCATTGTTTTT ATACAGAGTCCAGCACAAAGCATGTGAGCCACTAATGAACGTTCTTCCAC GTGTCAGCACAGGCTGAAGCTAGACATTTTGGTGTTCAGGGTAAACAGTC ACCAAGAACCCTCAGGCCCACACAGGTAAGTGGAGCAGGGAGTGAGGGGA GTCTGTAGTCCATCGTCTCCTCCCCTGACAAAGAGTTTGGTCCCACAGAG CAGGCCCTGCCACCAAGGCCTGAGAGGGATGAAGGGGGAAGGGTTTTGTA GGATGCAGGGCAATGACGAGCCTTTGCAAGCTTTTGTTTTACTTTTTATT ATTATTATTATTATTATTTTGAAATGGAGTATCGCTCTGTCACCCAGGCT GGAGTGCAGTGGCGCATTCTCAGCTAACTGCAACCTCTGCCTCCCAGGTT CAAGCAATTCTCCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGACGTG CGCCACCACGCCTGGCTAATTTTTGTATTTAGTAGAGACAGGGTTTCACT ATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCC TTGACCTCCCAAAGTG	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	360	0.0028	-1465	c.390 others(17): Show c.390+3001_390+4465del	SLC12A8	ENSG00000221955.11	transcript	ENST00000469902.6	protein_coding	4/13			chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132160065	TCCTGTGT others(1457): Show TCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCAGGCGGTGGCC TCTTCCTGTGTGATGCTGGGGGGGGTCTCTTCCTGTGTGATGCTAGGGGG TCTCTTCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGGTG GGCCTCTCCCTGTGTGATGCTGGGGGGGGCCTCTCACTGTGTGATGCTGG GGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTCTTAT TGAGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATG CTGGGGGGGGTCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTG ATGCTGGGGAGCCTCTTCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGT GATGCTGGGGGACCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTG TGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTG TGTGATGCTGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGGGGGTCTCCC TGTGTGATGCTGGGGGGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTA CTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGC CTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGATGCTGGGGGG TCTCTTCCTGTGTGATGCTGGGGGGGGGGTCTCCCTGTGTGATGCTGGGG GGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATGTCTTACT GGGGGGGGCCTCTCCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGA TGCTAGGGGGTCTCTTCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTG ATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGGGGGGGCCTCTCACTGT GTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTGTCTTTCT GTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATT CCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCT TCCTGTGTGATGCTGGGGGGTCTCTTCCTGTGTGATGCTGGGGGACCTCT CCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGCCT CTCCCTGTGTGATGCTGGGGTGGTCTCTCCCTGTGTGATGCTGGGGTGGT CTCTCCCTGTGTGATGTTGGGGGGGCGGTCTCCCTGTGTGATGCTGGGGG GGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTCTTACTGG GGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGCA GGCGGTGGCCTCTTCCTGTGTGATGCTGGGGGGGTCTCTTCCTGTGTGAT GCTGGGGGGCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0101 a0003c0018t0003g0101	1	101	0.0099	-1464	c.222 others(19): Show c.2221-3123_2221-1660del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCSK5_chr9_75885673_76367975	76305275	CATTTTAG others(1456): Show CATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCC ATGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCA CAACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGA AAGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAA GCACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGG CAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAG TTTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTA TCTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTC ATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCA TGTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCAC AACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAA AGTAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAG CACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGC AGAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGT TTAATTACTGTATCCATGTGCCCCTATGTTAAGCACTTGACACGTATTAT CTCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCA TTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACTGTATCCAT GTGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACA ACAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAA GTAGGATTCTGAGAGTTTAATTACTGTAGCCATGTGCCCCTATGTTAAGC ACTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCA GAATTATTTTCTCTCATTTTAGAGACAAGGAAAGTAGGATTCTGAGAGTT TAATTACTGTAGCCATGTGCCCCTATGTTAAGCACTTGACACGTATTATC TCATTTAGTCTTCACAACAATCCTATAAGGGCAGAATTATTTTCTCTCAT TTTAGAGACAAGGAAAGTAGGATTCTGAGAGTTTAATTACCGTATCCATG TGCCCCTATGTTAAGCACTTGACACGTATTATCTCATTTAGTCTTCACAA CAATCCTATAAGGGCAGAATTATTTTCTCTCATTTTAGAGACAAGGAAAG TAGGATTCTGAGAGTTTAATTACTGTATCCATGTGCCCCTATGTTAAGCA CTTGACACGTATTATCTCATTTAGTCTTCACAACAATCCTATAAGGGCAG AATTATTTTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG03453.hp2 HG02055.hp2 HG02559.hp2 HG03453.hp2	a0002 a0042 a0002 a0042	a0002c0016 a0002c0047 a0042c0041 a0002c0016 a0002c0047 a0042c0041	a0002c0016t0019 a0002c0047t0045 a0042c0041t0024 a0002c0016t0019 a0002c0047t0045 a0042c0041t0024	a0002c0016t0019g0064 a0002c0047t0045g0128 a0042c0041t0024g0127 a0002c0016t0019g0064 a0002c0047t0045g0128 a0042c0041t0024g0127	3	164	0.0183	-1463	c.360 others(19): Show c.3605-2928_3605-1466del	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	28/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIK3C2A_chr11_17081575_17212986	17188205	GTGCATGC others(1456): Show GTGCATGCCTGTAATCTGCAGCTACTCAGGAGTCTGAGGCAGGAGAATCA CTTGAGCCCAGGAGGTGGAGATTGCAGTGAGCTGAGATCATGCACCACTA CACTCCAACCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAGAAAA AGAAATGTCACAGAACAGAGAACACACAAACACCTAATGAATTAAATTTC AGAAAGTGATAGCCCTTTAATAGAGAGAGAGGCCCAACACTACTCTCTTC CCTGGTGCAGCAGCATCAGGAGAAAACGTACTGTAGATGGGGATAAGAAG AAACAAACCAGACTTTTAAGAAATTTTTAATGCCAAATGTAGGCTAGCAT GACAGATTAAAATTCTAAGGCGTGGTGGAGGTAAAGCTGAGTAGTCTAAT GTGCTGGAAAAAGAATTACAAGGAGCCCCAGACATGGAACCCATCTGTAC CCATCTACCAACTCTCCTACAGGTCTTCACTAAATACACAGGTAGCACAC TGAAAGCTGAAGACAGATCAGAAGAACTGAAAGAGATCCCATCTGAAGTA TGTAGGCCTCCCTGAAGTACAAGGCAGTTATCTTCCAAAGGAGGATTGGC AAGTGGCAGACAGAAATCCATCTGAGGTAATCCAAGCTTTTGGCTACCAA AGGCTGTGGAGGCAAGAGCTGAGAAAAAGCTCTCCACGGCATTCCAGGCC TTCACAGAATGTAAAACAGCTGCCCTCCTGAGGCAAGGGTAAGAGCAGCA AGGCAGAGATCTCCTTTGCTGCAGAGATCTCCTGAGACACAGAAAGGCAA GAAGCACAATTAAAGAACAAAGAGAACCTCCCAGCGACCTAAAAAGCTGG CAGCTCAGCTGGCAAAACAGATCTCTGAAATCATGTCAGTGCTTAGATCC CAAATCCTGCTGAGGAGAAAGTCATAATTCTGCCCCAAAGTATTTGGACC CAGTGGTAAACTGAATCAAACTACAGCTGCAACAAAGCACAGACTCATCT TACTTATAAATTAGACTTACTCAATTTAGTGGCCAGACAGAATAAATGGA ATTTTGGAGGTAAATATTAAGTAAAAAATAAGTAAACTTCAGGTTCTCCT TTGTTTTATAGAAGCTGTCTGGTATACATGCCAGGTACGGCAGCTCACGC CTGTAATCCCAGCACTATGGCAGGCCGAGGCGGGTGGATCACCTGAGGTC AGGAGTTCAAGACCAGCGTGGCCAAGATGGTGAAACCCCATCTCTACTAA AAATACAAAAATTAGCTGGGCATGGTAGCACAGGCCTGTAATCCCAGATA CTCAGGAGACTGAGGCTGGAGAATTGCTTGAACTTGGGAGGCAGAGATTG TGGTTGTTTTTAGTATATTCAGTTGTTTTTAGTATATTTTTAGTATATTC ACAGGCGTGTGACCATCACTACTACCAAGTTTCAGAATACTTTCATCGCC CCATAAAGAAACCC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02055.hp1 others(18): Show HG01243.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0004 a0008c0022 a0001c0001 a0002c0004 a0008c0022	a0001c0001t0003 a0002c0004t0003 a0008c0022t0003 a0001c0001t0003 a0002c0004t0003 a0008c0022t0003	a0001c0001t0003g0100 a0001c0001t0003g0173 a0001c0001t0003g0176 others(18): Show a0001c0001t0003g0100 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0313 a0002c0004t0003g0181 a0002c0004t0003g0184 a0002c0004t0003g0190 a0002c0004t0003g0192 a0002c0004t0003g0200 a0008c0022t0003g0101	21	340	0.0618	-1463	c.-66 others(19): Show c.-66+18180_-65-18400del	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
EPC1_chr10_32262751_32352158	32263260	TAGTGAGC others(1455): Show TAGTGAGCCGAGACTGAACCACTGGACTCCAGCCCTTGGGTGACAGAGAC AGGAGGGAGCGTCTCCAGGGACTATAGGAATTTAATCAACTTGAGCAATC AGCCTGTTTTTTTTTTCCCCAAACCCTGTGTGGAATGTGGTCACCTAGTT TAACACAGCTTCTGAGAGACCCCAGCAACTTAATAGATGAACCCCAGTGA ACTTTTATTACCATGCTAAACTCTGGACACACCCTGGGAGGAGCTATCAC TTCCTTACCATAATACATGACCTATGTGCTGACATAATGACTCACTGCAT CTGCACAACTGGGACCCCCTCCCTCTATGTGCAATGGTGCATCCTCTCCC ATCTCCATCACCCATCAAACCCTCCTGTCACTTTCCCTCAGGGAGACACT GCTTGGGAGAATGTGCCCAGTGCTCTCTTTATGTGTGCCAAGTAATAAAA CTCATATTGATCAAAACCCACACTCTCATGGGGACTTGTCTGTTACTCAC CAGGTGGACGAACCCTGCTTTTTTTTCTGGGTAACAAATCTTACATCAAT ACTCACACCACGGATATTGGTCTGTAGTTTTATTTTCTTGTATTGTCTTT GCATATATATATATATATAATTTTTTTTAGATGGGATCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACTTTTGCCTC CTGGGTTTAAGTGATTCTCCTGCCTCAGCCTCCTGAATAGTTGGGATTAC AGGTGTACACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGG GGTTTCACCATGTAGCCAGGCTGGTGTTGAACTCCTGACCTCAGATGATC CGCTCGCCATGGCCTCCCAAAGTGCTGGGATTACAGGATTACAGGCATGA GCCACTTGCCCGGCACTTTTATATATTTAACTGCAAGTTTATATAAAAAA TAATAATTGTTTAGCCAGCAGTTCATTAAATTCCTGAAAACGTTGACAGC TGATTCTCATGAGCCAATGTGAGTGGGCTCCAGTATATCTTGGCTAAACT TTGCATGTCTTTTGCAATTTAGGCCACAGTGAACTGAGTCAATTTCTCAT CGTAATAGAACACGAAATGAAGGGTATATGTGTCTGTAACTTATTGGCAA AAAACTGGAAAACCAGAACAAATACCAAGCTGTGAATTATTTCCCAAATG CCTATCTGAATGCATCATCTTAACAGCATAAAATTCAGTCCTGGCCAGGC GCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTG GATCACAAGGTCAGGCATTCGAGACCAGCCTGGCCAACATGGTGAAACCT CACCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACTTGCCTG TAATCCCAGCTACTCAAGAGGCTGAGGCACGAGAATCGCTTGAACCTGGG AGGAGGAGGCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp1 HG00741.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0271 a0001c0002t0004g0270 a0001c0002t0003g0271 a0001c0002t0004g0270	2	316	0.0063	-1462	c.43 others(11): Show c.4341_*5802del	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding		4490		chr10	TogoVar
LINGO2_chr9_27932617_29218601	28047361	TGAAAGAT others(1455): Show TGAAAGATCTACTAAACAACTGAGTTTTTTCATATTCAAACAGATAGTGG CCTTCCACTTCTTTTCCAGTTGAAATATTAACTATAGCACAGTAACTTTT TATTCAACATTTTCATAGTTCTTAATTCCAGTTTAATAAATACAGGACGG CAGTTAAGAGCATGGCCTTCAAAGACAGTTCTGGGTGCAAATCATAGCTC TACTATTTAACAACCATGTGGCCCTAGACAGCTTACATGATCAATCTACA CCTCAGCTTCCTCGGGAGAGTTATGGTGATAGTAACGGTAGCTACCTTGT GGGAGGTCTTCTATGAATAACCTGAGATAACATAATTAGCACAATGTCGG GTGCATATTACATGCTTAGTAAATGTTAGCTGTCATTTTATTAAAAGCAA TAGAACACTTAAAATTATACTGAACAAGAAAAGAGCAAAGTATTTTTTTT ACAGAAACCTATAAATCTTCAGAAGAATAAAGGTAGGTATAATTTTTGCC AGAATGGGACTAAAAATTACTTATCTGTTCACCCCAGGGAAATTTACAGA TTTAGTGCAACTTCAAAGTAGCAATGTGATTTTTTAGAATCAACGTAATT TCCACAAAAAATATGAAAAGTGTGACTGTAATAGAAAATAAAAAGAAAAA ATCTAATCACATTAGACATTAAACTTACAAAGAAGTTTTAGAACTTAAAA CTGCATGTACTGGCAGAAACACAAAGCCACCTCAGTGAGAAGGGGTAGGA AAATTAGAAATAAATCCAAAACAAATCAGCTTTCCAAAAAAGGGGTAAGA CATTTAATAAGGATTAAAATATAACAATTTAGGAAACAAGTGTTAGAGGC ATGCCTTACACAATGTAATAATCCACAGAAGAAACTCGGGAAACACATTG CCCCAACTAAATCTATAAATACAGAAAGCCTCTACTAAGTGAAAACATTG TAATTAAATTTTTTGTATAACAATAACTAAAATTCAGAAGGAAATCTCAA AGTGAAAAAGCTGGGTAAGCCAATGACATGAACATCAAAATTACATAAAT ATTAATAAACAAATACCGAGGAAACACTATCCCAAATGGAACCTGAAGAT ACCTTTAGTCACCTATTAAAAAAGCAAATGGATTAAGAAATATTGTATTC ATTGCCAGTGAAAGTAAGGAATCCATTTATTTATTTATAGTGATCTTATA AATTGGCATACCTCTTTTGGACAGTAATTAAGCATAATAATTTATAGACT GATTCGGTAATTTTATTCTCTAGAATTTCTAATTATTCAACAAACAATAT ATGCACAGAACACTTATCTACGATGCCAAAAGGCTGAAAATAGCATAAAT GTCCAAGATTAAAGGAAAAGATTTAATAAATTCAACCTAGAAAAATATGT AATCATTAAAATGATAATTATGAAGGATATATAGAAATGTTAAAAGTACC ACAATCGATGAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00642.hp1 others(4): Show HG00408.hp2 HG00597.hp2 HG00642.hp1 HG02809.hp2 HG02922.hp2 NA19060.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028	a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0002g0045 others(4): Show a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0002g0045 a0001c0001t0003g0048 a0001c0001t0016g0011 a0001c0001t0022g0030 a0001c0001t0028g0038	7	62	0.1129	-1462	c.-35 others(19): Show c.-35-98117_-35-96656del	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
NTN1_chr17_9016510_9249000	9232374	AGCTGGAC others(1455): Show AGCTGGACAGGCCAGGCCTGACTGTGCCCACCTCCCAGGGGACAGGGCTG GTCTCCTCCCCAAGGGTCTGGCTCTCTAGGACCTCCAGGACCTAGCAGGG GAAACTGAGGCAGCATCCACACTGCTTTCAGTTCTGAGAGAGAGGGTCAT CCTGTTCTGTCTTTGGTTGAGGGGAAACCTTCAGCCAGCTCTACGTTGGG TGTCCTCATGTTGTCTAAGTCCTGGGGCAGGGCCCCGGTGGCAGGCACAT GGCAGGAGATCCCTGAGGACTCCTGAGGGCAGCGGTGGCAGTTGCCAGGC CTGGCCACAGTGAGCCTCCAGCCCTCTGCCTTGTTTGATATAGACTGGGC AGGGGCCACGGTGACCCCCCGTCCCGGGTGTGGCGGCCCCCTCTCCCACA CTCCCCGGCAAGGAGTCAGGAGAGGGCAGATGAGCATCACTGAGACCAAG CCTTGGCTCTGGCGGCCCTTCCTCCCTTCGCAGGGCCTGGGAAGCATGTG CTCAGAGCTGCATTTCAGGAAAGCAGCTGCAGCTCGTGACACGCTTTCCA CAGCGGGAGATTTATGGGGCTGTGCGGCTTTCATGGTTTCTGTGGGGTTC CTATTCTCCCCCTCATTTGTCCTGGCCGCTGTCTCCGAGGCAGATGGGTG ACAAGCCTCCCCTAGCTGGACCGGCCCAACAGGAAGGTATGGCTGTGTAG GGGAGGGGAGAGGCTGACCACCTCAGCCTCCTTCGGAGGGGGAAGCTGCT GGGAGCCACTGGGGGCCCACCTCGAGCAGCCCATAAATCTGCGAGACCTC CAGGAGGTAGGAAGCCTCCCCGCGGAGGTGTCCCACACACTTAGGCCTTG CCAGGGAAAGGAGAAGGGCCAGCAGCCCCCAGAGTCTGTGCTGCGGCCAC TCCCCCAGGGCCCAGCCTGCAAGTTGTTTATTCGGGGCTGGGCCTTTCCC GCCCTGTGTCGGTTCCCAACAGGCAGATGAATGGGCAGCATCTATAACTT CTGCACCGGCCGGACAGCTTTCCTACAACCTGGCCCGGGCGGGGAGCTTT GATCCCAGCAGGAGGTCCACCAAATCTGCAAGGAGGGGCATCCGTCAGTT CCCATCTACTCCTGCCACCAACTTTCTGGGGTGGTGACAATGCAGGGTCC TCAGAAGGTCTAGAGCTCACAGGCTATGGTGGCTCCTGGGCCCGGACTGG AACTGGGGAGGGAGGGAGGTTTTGGATGGACTGGGGTCTGGACAGAGGAC AGGGATGCTCCAAGTCCCCCTCTGGAGGAATCTAAGCATAGGCTGTGACC TAGAGTTCCCCATTCTTCAGGTTGCCTTTGACGGCCTGGTAATGGGTCAA CATTGGGACTCTGGGGAAGTTGAGGTACCCCAGGAAGGAAGACCAGATGC TCACTCTGGTGCCTTTCACTGCAGCCAGGGACGCGGGAAGCAGCAGCTGA AAAGACACCCAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG01243.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0208 a0001c0001t0001g0128 a0001c0001t0001g0208	2	256	0.0078	-1462	c.148 others(19): Show c.1487-7204_1487-5743del	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLCCI1_chr7_7963796_8094080	8079311	AAATTTTG others(1454): Show AAATTTTGCCATTTAATAAACTTGACAATATAAAAATTAAGATTGTATTA CAGTGATTTTCTTGAGATACCTACTTTTGCGCAAGATACAAAATATTTTG TGCAATCCAATTTATTTTGTTTAGTTTTACCATTAAGATTTACAATCATT ATTTTAGTCTATAAATTGCTTTGAGGACACTTTTCAGTTTTAACTGTCAT ATCAGATTAAAAGTGAGTTGTTTTCATTTTTAATTGTCATATCAGATTTA GAGTGAGTAGTTAGCATATCAACAATAATGATTAGCACTGTTGTTCTGCA TATCAAGATTATGTTGTGGAAGAAGCACTGTACTTATTTTGACTACACAA AAACAAAAGAGTAACTTTTTGGCTTAATTTGTAAGTTGGCATCAATTTAA TTCATACTTATGGAATGAGAAGTGATTACAAAATATAAAATACCTCCTAC ATATAATAAATATATAATTAATGGGCCTTGGAATGTAAGTTGAGTCCCGG TTATTAAAAAATCAATCTGATTTGAAACAAAGTTTATAAATGTAAGTAAT AAAAGGTTCTGATGTCATTTTTCCCCTGTACTCTTTGCTGAATGCTGATC TAAAGGAGATCTTACATATAGCTGATGTCTTGGTTCATTACAATTCTTTA GTATTCTCACAAGGTGTTAACTTTGAATTTTAGAAAAACCTTAGAGGCTC TTTGTAAAAGCCAAATGTTCTCCTTACTTCTAAGTTTCCAAGTTGGTCTT GGAGTTAACTGAAAATACAGGCTTTTTAATACAATTGGTAATACAACCTG ATTCTTAAAGTTCATTGCCAAGAAATGATACACAATTGTGTGTTTCTGCT GATTTCATTAGGCCTTCAAACCCCATTATAGTTGATAATTTCATTTCCTG AAGCAAAATAAGTATATTTTAACACTAGAGTAGTAATTTTAAGTACTATT CAGTCAATCATATTTCTAATTTAATTCTCTTGGCCAATTTTATGCTTTAG TATGTCATTGAGTAAAGTGTTGGTTGAACAGTGTACTCACTTTCCTAGTC AGTTAACTACCTGGGAAAGATAGAATAAGAATTACATTCTACTGCTTATT GCTGCATATACTATGAAAGTATTTTCTTTGCATAGTAGTCTATAGAATCT GCATGCTTTAAGCATTGATTTTAATTTCAGGATGATAGATCTCTTTACAC TAAAGGATGCCATCATGAACTGACAGAGTTCATGTCAGGCAGTTATAAAC CTGGACAACCTGGTACTCCAGATATTATTCTGCTTCTCTCTCAGAAATAA AATTGTATCTGTATGTACCGGAGTAGAGTACACAAATCTATTGAAAACAT TTCCTTTACTCTCTTCTGTCAAGAGGGAGCAGAATAGGCACTTAATTTTT GAATGGTTCATCATTTTTAATTTTCAAATTAGAAATGATGTGTTACTTTT TACTATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02630.hp1 others(7): Show HG02280.hp1 HG02559.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03471.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0046 a0001c0001t0087 a0001c0007t0088 others(3): Show a0001c0001t0046 a0001c0001t0087 a0001c0007t0088 a0002c0003t0020 a0002c0003t0034 a0002c0003t0059	a0001c0001t0046g0194 a0001c0001t0087g0377 a0001c0007t0088g0378 others(7): Show a0001c0001t0046g0194 a0001c0001t0087g0377 a0001c0007t0088g0378 a0002c0003t0020g0383 a0002c0003t0020g0384 a0002c0003t0020g0385 a0002c0003t0020g0386 a0002c0003t0034g0116 a0002c0003t0034g0380 a0002c0003t0059g0376	10	414	0.0242	-1461	c.117 others(19): Show c.1178-5582_1178-4122del	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC35F4_chr14_57558920_57871092	57807244	ATGAGTTC others(1454): Show ATGAGTTCTCTCTGCTCCTTCACATCCAAAGCCTTCACCCTCCTCCTGGA GGGGAATTCTGCCCCAGCTGGTGCTACCTAGGTGGGGCCAGGTAGTTCTG CCTAACTCAGAGCTTCCCCTGTTAGCAACCCACAGAGCCAACAGAGCCAA AGCCGTTGCCTCCCTCCTGCCTCCAAGCAGGAAACAGGCAATTTTTGGCC CCATCTTTATGCTGTTTTACATCTCAACTTGTTCAGAAACCAAGCCTCTT TGAGCACCACTTTTAGGGAAGTTTTGTTCCAACAGGGCTGTAGCAAAACA CTATACTTGCTCTCAGAGGAAGAGTTTTCATTCAGTACTGATTGATTTGA AAAAACTCCAAGCCAAATCTACTGACTGATTTATAAGGAAGCCATCAATC ATCACATAAGACAGTGAGTTCCACACTTGAAAAATTTGCTTACCAACATC ACAATTTCTGGCCATATCACTCTACCACTTATATTATTATTTATTACTTT TTTTCTATTAAAAGGCTCATTTATTTTTACTTGCCAGGCACTGTATTAGT CTGTCCTCATGCCGCTAATAAAGACATACCTGAGACTGGGTAATTTATAA AGAAAAAGTGGCTTAATAGATTCACAGTTCTACATGGCTGGGGGGCCTCA CAATCATGGTGGGAGGCAAAGGAGGAGCAAAGGCATGTTTTACATGGTGG CAGGCAAGAGAACGTGTGCAGGGAAACTGCCCTTTATAAAACCATCGGAT CTTTTGAGACTTATTCATTATCATGAACACAGCACAAGAAAACCTGCCCC CATGATTCAGTTACCTCCCACCAGGTCCCTCCCATGACACACCTGGGGAT AATGGGAACTACAATTCAAGGTGAGAGTTGGGTGGTGACACAGCCAAGCC ATATCAGGCACAATTATAAATGCTTTATAAATATTAACTCTTTTAATTCT CACAACAATCCTATGAGGTAGGTATTATTATTGCTATAATTTTAGGATGA GAAAACTGATGCATGGAAAGATCAGTAATTTGGCTCAAAGTCAGACAGCA ACTGGAATCCGCTCCACCTGTGCTGGCTCCATGGTCACCTCTGACCTACC ACAAATATAGAAAGTGATCATGACAAAGGCAGTCAAAAGACATGAATGTT ATCACATTATAAAAATGAAAATAAAATGCAAAGCATAATACTAATTGATT AACAAAAACTCACACCTGGAAATTCTATTTTTCTTTGTGCCAAAAATAGC TGTTAATGATTATTTGATAACAAAATTTAAAACTTAAAAATTAAAATGAA ATACACAGAGTAATAGCCAGTCAATTTATAAAAATATACTCCTGAAAATT CTTTCTCCAGCTTGGGCAATATGGCAAGATCCCATTTCTATAAAAAATTA AATTAAAAAACCATTTTCTGGGTGTGGTGGTGCAAAACTGCGGTGCCAGC TAGTCAAGAGGC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp2 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0046 a0001c0001t0006g0033 a0001c0001t0003g0046 a0001c0001t0006g0033	2	218	0.0092	-1461	c.103 others(19): Show c.103+57018_103+58478del	SLC35F4	ENSG00000151812.15	transcript	ENST00000556826.6	protein_coding	1/7			chr14	TogoVar
TRPC7_chr5_136207745_136370545	136369084	TAAATCTT others(1454): Show TAAATCTTCTTTAGAGTGAGCACAAAATCTGGGGAAAAATTTTGTGCTGT AGACTGTTCTCAAGTAATGAAAAATTGTGTTTTTATTTACAAACAGGGAG TGACTGGAAATAGCACTATGTCTCAAAGTGATGATAAGAATGATGCCAAT TTAATTCTATTCCTATTTATGTGTTTTATGAAAAATTATTCATCTTTCAG TTTGGGCTATAACTGCAGATTTCAATGGTTATGCTTTTACAGGATTTATG TAAGCTATAATTGGCTTGTAACCTATTAAAGGTTTCTTACAAAAGCAAAC TGAAACCCATATGAAATATTTATTGATTGCTATTGTTTAAATGTCTCCTC CAAAACTCATGTTGAAATTTAATTATCATTGTAATAGTATTAAGAGGTGG GACCTTTAAGAGGTGATTCATTTACGAGAGCTTCACCTTCATAAATGGAT TAACACCTTTATGCTGGGAGTGGGTTACTGGGGGAGTCCAGCTTCCTTCT CTGTCTCTTGAGCTTACTCTTTTGCCTTTCACCAAGGGACAATCCTTTGC ATGTGGTGCCTTCTGCCCTGTTATGACACAGTAAAAAAATCCCTCACCAG ATGTGGCCCTTGATCTTGGACTTCACAGCCTTCAGAATTATTAGCCAAAT AAATCTCTTTTCTTTATAGATTACCTAGTCTGTGGTATTCTATTACAGCA GCAGAAAACAGACTAAGACATTTGTATTCTGCCTTTAAAAAAAGATTTAA GATGGTGTGGTCAGAATGGAAATCCTCCTTCAATGAAAGAAGTGTGCAGG AATGGCAGTCAGTGGATAGCCTCCAGCTGCCATATCCTTCAGGGTGTGCC TCAGGTACAAAGAGCCACCTTTCCCAGGGCCACACCCTTTGCAGGATAGA CTGTATTTTGTGACTGAGCAAGGTGAGAGAATACAGACCATTTCAGGAAC ATGCTTACGTGCAATACTCTTTCCAGGGCTTGCTGCTATATTGCCCACAT TATCATAGCTTGATTTCTTCCTCTCCCCAATACTGCTTCCTCCCTTTTCC TTTTAAAAATGTTGAACCTTAATGAATATTTTTCACCTTAAACTCTATAT CAGTGTCTACTTCTGGAAAACCTAACCTGTATTAATTGATATCAGGAATG GATTGAGCAACTAGGTGATAAAATGGGATGTTTGAGCTGGATTGCCACCA TGTAGTTGGCGCTGACCCTATCACTGGTCATAAATGGAGCACAGATGGCC CATGAAACAAGGTGATGGTCCATTTAAGTTTTCACCTGTGGTGAATTGGG ATGTTATGCTTGTGGAAGAGAATGCATTGGTAAGTGGAAAATATGCATTT GAAACTCACCAGAGAAATAATAATGACAAGCACAATGGCTTTGGATAGCT ATCATTAAATGCCACCGATATTCGGCAGAAAGATGAGTAGCTGAAGATGC GTAATAGGCAAT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	256	0.0039	-1461	c.-52 others(11): Show c.-5291_-3831del	TRPC7	ENSG00000069018.19	transcript	ENST00000513104.6	protein_coding		3540		chr5	TogoVar
CYP4F11_chr19_15907377_15939529	15932445	GAGAGGAA others(1453): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGCGAGAAGAGGAATG AGTGAGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02486.hp2 HG00642.hp2 HG02486.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0030 a0004c0007t0031 a0002c0001t0030 a0004c0007t0031	a0002c0001t0030g0192 a0004c0007t0031g0212 a0002c0001t0030g0192 a0004c0007t0031g0212	2	336	0.0060	-1460	c.198 others(16): Show c.198+306_198+1765del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
EYA4_chr6_133236357_133537128	133349606	AACAAAAT others(1453): Show AACAAAATGCCTCATGATCCAGGCCAGAAATGTAAGTGTATGAAATGCTT TGAGTGCAAATAATATAGGAATGTGGGGGCTGTAATAAACCACAGGGTTA ACCCCTAATCAGTGGGCTACATCTCATTGCTATCATAGGCAAACAGTGCC TTGCCATTTGACTTAGAAGAAGCAGCTGCAAATCCAGATTTTTATGAGAG CTCCAGCAATTCATAAATATCGATTTCCAATTCAAAATTTTGTGTGGGTA AAATAAAACATCTTCTAGCAAGATTCAACTTGTGGACTGCCAATTTGAGA GCTCTAGTAAAAGAAGTATAAACTTCAGACATCTATCTATTTTAGCAAAC TTTACCTGGTTTAAAATGTCGTCAGAAAAGTTTGTAAAATAACTTGAGTA GAAAATGTAGGACATGAAATACCAATCAAATCAAGAATGTTTGATGAAGA ATAATTCCTAGAATCTTTTTGCAGTGTTTCTGGCTCCCTTTGCCATTTCT CTTGTTTGCTCTTCATTCTGATAAGGGCCTGATCTTTGATGTTGACAGTC TAATTGAACCAAAAAATGAACAAATAAAATTTATTGAGTTCCCATTATGT GCCATGCAGTGTTCTAGGTGCCAGGGTTACAAGAATGAAGACAAAAGTAC ACCTTGATATGAAACTTCCATCCTACTTGGAGGGGAGAGAAAGGTGACAG ATAATGTTCAAATTAACTCGTGAAAAAGATAATTTTACATAGACCTAAGT GCAATAAGTACATAAACAAAATGTTCTGATAGAGAATGCTGGGGTTAGGT GTTGGCTAGTTTATACTAAGTGGTTGATGAGGGTATGTTTGAAATGGGGA CTTTTGAGCACAGACCAGTTGGCAAGAAAGGCAACCGTTCAAATATGTGG GCAGAGCTTCTAGACAATGGGGATATGAGATGAAGAAACCATAAAGCTGA AAGGAACTTATTGTGCATGGAGAACAGCAAACTGGACAGAGGGGCTGGAG TGCAGTGAGGGAGAGAGCTGAGGTGGGTGAAGTTAGGGAAGTTGGCCCCT GTGGCTCTATTCTTTGTCGTTTGCTCTCTGTATCTTTTTCGTACTTCAGT TTGCTACATCTTCACATTTGCTGATCTTTTCCACTTCAGTGTCAAATGTG CTATTAATCCAGTCCAAAGAATTTATTTTTATTTTAAATGTTCTATATTT TAGCTTTAGAAATTGCATTTCATTCCATTTCTATACATTTCATTTCTTTT TTTGTTATATTCATGTCTTCACTAGATTCTTGAATATATTTATGATAATA TCAATTATCAATTCATATCAATTTCTTCAGATTATATTATCTCTGTTATT TCTGGGCCTATTTCTAATGACTGATTTTTCTTCTGCTTACATTTTCTTTG CATGACAAGTAACATTTTAGGAGATGCTGGATATTTGGCTGTTGACTGTC TGGGTTTTATT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02647.hp1 others(1): Show HG02559.hp1 HG02572.hp1 HG02647.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0042 a0001c0001t0044 a0002c0002t0001 others(1): Show a0001c0001t0042 a0001c0001t0044 a0002c0002t0001 a0002c0002t0043	a0001c0001t0042g0090 a0001c0001t0044g0096 a0002c0002t0001g0133 others(1): Show a0001c0001t0042g0090 a0001c0001t0044g0096 a0002c0002t0001g0133 a0002c0002t0043g0085	4	262	0.0153	-1460	c.34- others(17): Show c.34-32785_34-31326del	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	2/19			chr6	TogoVar
JMJD1C_chr10_63162225_63470977	63339359	GCTTCAAC others(1453): Show GCTTCAACTAAACCTTGAAAAAATAACACTTGCATATACACGGTATGAGA AAATGGTGGAGGAATGAACAAAACACATTGCAGGCTGAGATAATGACTAG AGTAGATGCAAAAACAAGAAATACATTAAGTATATAGGTTGAGGCCAGGT GTGCTGGCTCACGCCTGTAATACCAGCACTTTCAGAGGCAGGGATGGGAG GATCCCTTGAGTCAGGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGAC CACCATCTCTAATTTAAAAAAAAAAATTAAATGTAGGCCAGGCGCAGTGG CTCACGCCTATAATCCCAGCACTTTGGGAGGTCAAGGCAGGTGGATCACT TGAGGTCAGGAGTTTAAGACCAGCCTGGACAACATAGTGAAACCACGTCT CTACTAAAAATACAAAAATTAGCCGGATGTGGTCTCACAAACATTTTGTA CCAGTAGCTCAGGTTCACTGCGGAGAAGCTGGACTGAATGATGACTGCAA GATTTTTTTACTCCTTGACAACTGTTCTAATTATCCTTCAGCTGAAATTC TCATTACAGGCATGCACCTGTAGTCCCTGTAGTCCCAGCTACTTGAGAGG CTGAGGCAGGAGAAATGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCT GAGATAGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTCATTT CAATAAATAAATAATAAGTAAATTACACATATATAGGTTGGGCATCCCTA ATCTGAAAATCTGATGTCTGAGCACCAAAATGACACCACATGTGGGAATT TCCACACCTGACCTCATGTGACAATTCACAGACAAAATGCAGGCATACAA ACACACAGTTTATTCAGCAACCCTGAGGGAAAAAAAGACCCTCTCAGCCC CCTTTAGCTGCAATATATCTTTTCTGAATACGCCCAGATTACCCCACACA TGTGTGCACATAAAGTTGGCCAAAATGGCACATACACAGGCAGGACATGA CAATGGCAGGCTCCACATGGAGCCAAGACCTATGTGCATTGCTCACTGTG TGTGTGTGGTTTTTTGTTTTTTTACTTATTCTCTGCTCTGTGGTGTAAAG ATACTATTGAAAATGTCAAAAAGTCCTTCAGATATTCCTACGGGTAACGG TTATTAAAAAGAGAGAAGGCATTTATGTTTATATCACAGAAAGTCAAGTT GTTAGAGAAACTGGAGAGCAGTGTAACTGTAACATGTCTTACAAAACAGT ATGGTGCTGGCATGACCACCATATATTAATATAACGTGAAGAAACAAAAG GATAGGCCAGGCGCAGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGG CCAAGGCAGGTGGATCATCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCA ACATGGTGAAGCTCCATCTCTACTAAAAATACAAAAATTGGCTGGGCGTG GTGGCAGGCAC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	308	0.0032	-1460	c.333 others(19): Show c.333+39499_333+40958del	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
S1PR4_chr19_3173769_3185332	3174268	TCTCATGG others(1453): Show TCTCATGGGATGCCTGTACCCTCATGGGACGCCTGTGCCCCTCATGGGAT GCCTGTGTTCTCATGGGATGCCCGTGCCCCGCATGGGACGCCTGAATTCT CATGGGACACCTGTGCCCTCATGGGACACCTGTGTTCTCATGGGACGCCT GTGTTCTCATGGGACACCTGTGCCCTCATGGGACGCCTGTGTTCTCATGG GACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCC CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGC CTGTGCCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCA TGGGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTG TGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGG ACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCC TCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCC TGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGTTCTCATG GGACGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTG CCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGA CGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGCCC TCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCC TGTGCCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCAT GGGACGCCTGTGCCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGT GCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGG ACACCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTC TCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGTTCTCACGGGACGC CTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCA TGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTG TGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGCGTTCTCATGGG ACGCCTGCATTCTCATGGGACGCCTGTGCCCTCATGGGACACCTGTGTTC TCATGGGACACCTGTGTTCTCATGGGATGCCTGTGCCCTCATGGGATGCC TGTACCCCTCATGGGACGCCTGTGTTCTCATGGGATGCCTGTACCCTCAT GGGACGCCTGTACCCCTCATGGGACATCTGTGCTCTCATGGGATGCCTGT GCCCCTCATGGGATGCCTGTGCCCTCATGGGACGCCTGCATTCTCATGGG ACACCTGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG03579.hp1 HG01175.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	2	416	0.0048	-1460	c.-45 others(11): Show c.-4524_-3065del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4500		chr19	TogoVar
TECPR2_chr14_102357941_102507477	102410270	TAGAAGAT others(1453): Show TAGAAGATGGCTGGATTCTCCCTAATCTCAAGTAATCAGGGACACAAACA CTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTT CACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCC AAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAAT TAAAAAAAAAAATAAAAAATAAAAAATAAAAAAATAAAAACACACCTCAC CAAGCTCAGCCACCAACTTAAAAAGGACTGGACAATACTTTTACCACTTT CCCTTCTCAGAATTCAGGCCTGTCCTCGGAATGCTACAGGGTACAGCCCA TTTGAGCTCCTGTATGGATACTCCTTTTTGTTAGGCCCCAGTCTCATTCC GGACACTAGACCAACTTAGACTGTGCCCCCCCTCAAAAAAAAAAAACTTG TCATCCCTACTATCTTCTGTCTAGTCATATTCCTATTCACCATTCTCAAC TAACTCATACATGCCCTGCTCTGGTTTACACTGCCGGTTTACACTGTTTT TCCAAGCCATCGCAGCTGATATCTCCTGGTGCTATCCCCAAACTGCCACT CTTAACTCTTGAAGTAAATAAATAATCTTTGCTGGCAGGACTGTGCTGAA TCTCCTTAGGCACTCTCTAATCAGATATCCTGAGTCGTCCCAATTCTTAG ACCTTTTATACCTGTTTTTCTCCTTCTGTTATTCCATTTAGTTTCTCAAT TCATCCAAAACCATATCCAGGCCATCATCAATCATTCTATATGACAAATG TTTCTTCTAACATCCCCACGATATCACCCCTTACCACAAGACCTCCCTTC AGCTTAATCTCTCCCACTCTATGTTCCCACGCCGCCCCTAATCCTGCTTG AAGCAGCCCTGAGAAACATCGCCCATTCTCTCTCCATACCACCCCCCAAA AATTTTTGCCGCCCCAACATTTCAACACCATTTTGTTTTATTTTTCTTAT TAATATAAGAAGGCAGGAATGTCAGGCCTCTGAGCCCAAGCCAAGCCATC ACATCCCCTGTGACTTCCACGTACGTATACGCCCAGATGGCCTGAAGTAA CTGAAGAATCACAAAAGAAGTGAATATGCCCTGCCCCGCCTTAACTGATG ACATTCCACCACAAAAGAAGTGTAAATGGCCTGTCCTTGCTTTAAGTGAT GACATTACCTTGTGAAAGTCCTTTTCCTGGCTCATCCTGGCTCAAAAAGC ACCCCCACTGAGCACCTTGCGACCCCTGCCCCTGTCCACCAGAGAACAAC CCCCTTTGACTGTAATTTTCCATTACCTTCCCAAATCCTATAAAACGGCC CCACCCCTATCTCCCTCTGCTGACTCTCTTTTCGGACTCAGCCTGCCTGC ACCCAGGTGAAATAAACAGCCATGTTGCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG02717.hp2 others(15): Show HG00639.hp1 HG01081.hp2 HG02717.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp2 NA18947.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp2 NA18978.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19043.hp2 NA19060.hp2 NA19091.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0007 a0004c0004t0043 others(3): Show a0004c0004t0006 a0004c0004t0007 a0004c0004t0043 a0004c0004t0044 a0004c0004t0045 a0004c0004t0047	a0004c0004t0006g0143 a0004c0004t0006g0144 a0004c0004t0006g0145 others(15): Show a0004c0004t0006g0143 a0004c0004t0006g0144 a0004c0004t0006g0145 a0004c0004t0006g0146 a0004c0004t0006g0155 a0004c0004t0006g0156 a0004c0004t0006g0157 a0004c0004t0006g0158 a0004c0004t0007g0147 a0004c0004t0007g0148 a0004c0004t0007g0149 a0004c0004t0007g0150 a0004c0004t0007g0151 a0004c0004t0007g0154 a0004c0004t0043g0160 a0004c0004t0044g0159 a0004c0004t0045g0153 a0004c0004t0047g0152	18	332	0.0542	-1460	c.480 others(17): Show c.480+1670_481-2888del	TECPR2	ENSG00000196663.16	transcript	ENST00000359520.12	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr14	TogoVar
TPRG1_chr3_189166971_189330304	189285936	TGAGGGAT others(1453): Show TGAGGGATGTTGTCTCCTGCATGTTAGTCTTGCCTGAGTGAGGTCCCTGC TCTCAAAGATGGAGCTTCAGAAGTCTTGTTCTGACCCTTCTCTTGACTTA ATTTGTACAATTTACCTTCAAGCTCACTCTGCTAGAAACATGCTGGCTTC CTTGGTACTTCTTTTAAAATGCCAAAAAAATGCTTCTGGTTTCAGCCTTA AATTTGCTGTCCTCTCTGCTTAGAATGCTATTCCCCAGATACCACATAAT CACTCCCTCTTTTTTTTTAGATCTCAGATCAAATGTCACCTTCCCAGAAC ACTGACCACCCTATGAAAAACAGGAACTTTCCCACTGCATTAGTCTTGTT GCTTTACTCTGTTTTATTTTTTTTATATCATATCCTTCTGCCACATAGTA TATATTTGTTCACTTCCTTCCTGTCTCCATGCCAGAAGGTAAGCTGTATG AGAACTGAGATTTGGTTTTGTTCACTGATGCATCCTCTGTGTCTACAACA ATGCCAATCCAGAGTAGGAGCTCAACAAATAGTTGTTGAAGGCAATTAAG TGAATGCATGTTTATTTCATATTACCTCCTACTTCCAGGACATAGGGGCA GATATCTCTCTCAAGCAGGATCAATCAGATTCTCCTGCCTATGTATTTGG AATTGGGACTGAGAGATACTAGTCAGGATTTGAGAATTGGGACTGGGAGA AGGATGGGAAAACACATAACCTCAGATTTGTAGGCCAGCCACATGCATAT GGAAACAGAGGAATGTCTCTGATCTCTTGTCAAAGAGAGAATAAGGTACA GTTAGTTGCACACAGGAAAGTTCAGACATAGGAAACCATATGACCAGAGA CAGAGAGAGATGAAATGACAGCAGGCTTCCTTGGTAGCTTCCTACTTTCT TTTCTTTATCTGTTATGAGGCCAGGCTCCAGTTCTCTGTCAGGTGATGGG AGGCACTCCTGTATCCTTCTAACGAACTCCTCTTTTTCACTTGGGTCAGC TTGGGTGATTTAATTGTAAGGATAATATACAGCTGTTGAGATTAACAGAG GCTTATACAGTTGTTGATGATGAATTTCAGGATTGATGGCTCACGGAGGG CAGCAGGGCCTCACCCTCCTTTTGTCTTTCCATTTTGCTGTCTTTTGCCT GAAGACCCTGACATTCATCATGCTTGTCACCGCATGGTTGCAAGATAGCA CTGCACCGTGTAGCCTCACTCTGCATTTCAGACAGGAAGAAAGGGAAAAG AGAGGAGGCAAAGAGCTTTCTCCCAGTGACGCTTTGCCTTTTACAATTGA AGAAAAGATCTTCCTTGGGGAATTCTACTTGTCTCATTGTCCAGACAATG TTGCACGGTCATCTCTAGGCAGAGGAATCAAGTATTTTGGCTTTATAGAT TTCTATATGTGGATGGCAAAAGAAAAAAAGGTTGCACACACAGTACCTGT TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	286	0.0035	-1460	c.480 others(19): Show c.480-24449_480-22990del	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	4/5			chr3	TogoVar
CWC25_chr17_38795441_38830321	38807196	ACCTGTAA others(1451): Show ACCTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATTGCTTGAAC TCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGC CTGGATGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAA AAGGCAGTGAAACAGGAAATGTTACATAAGGAGCTCACTGAGCACACCAA TATCATCACATAGAATTATCACAGAGAACTGTATAAACTTAGTTATCTGC AGAATCCCCTAAAAGAATCTCCTTCGGTCAGCCAGGTGCAGTCGCTCACA CCTTGAATCCCAACACTTTGGGAGACGGAGGCAGGAGGACTGCCTGAGAT CAAGAGTTTGATACCACCCAGAGCAACTAGTGAGACCTTGTCTCTACAAA ATATTTAAAAATTAGCTCGGTGTGGCAGCACACGCCTGTAGTCCCAGCTA CTCAGGAGGTTGAGGCAGAAGGATCCCTTGAGCCTAAGAGGTCAAGACAG CAGTGAGCCAGGATCACACCACTGCACTCCAGCTTGGATGAGAGAGAAAG ACCCTGTCTCAAAAAAAAAAAAAAAAAAGATGGCTGGGTGCTGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGC CAGGAGATCAAGACCATCCTAGCTAACATGGTGAAACACTGTCTCTACTA AAAATACAAAATAATTAGCTGGGCATGGTGGGCACCTGTAGTCCCAGCTA CTTGGGAAGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTG CAGTGAGCCGAGATGGCGCCACTGCATTCCAGCCTAGGCGACAGAGTGAG ACTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAATATAC CTGGCTTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGACGGGCAGATCACAAGGTCGGGAGTTCGAGACCAGCCTGGCC AATATGGTCAAACCCCTCTCTACTAAAAATACAAAAATTAGCCGGGTGTG GTGGTGGGTGCCCGTAGTCCCAGCTGCTCAAGAGGCTGAGACAGGAGAAT CACTTGAATGCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCATTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCCTCTCAAAAAAAAAAAAGA AAGAAAAGAATACACCTGGCTTAGCTCTTCACTATAGGTTAAGGAAGAGC GAGATGCAGAAGCATGGAGGACAGGACCCAAGGTTAAAAATACAGAAATA TGAGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGC CGAGACAGGCGGATAGCTTGAGGCCAGGAGTTTGAGACCAGCCTGACGAA CATGGAGAAACCCTGTCTCTATTAAAAATACAAAAATTAGCCAGGTGTGA TGGCAGGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00642.hp1 others(79): Show HG00280.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01346.hp2 HG01358.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03942.hp2 HG04199.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0006t0002	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0022 others(63): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0177 a0001c0001t0002g0183 a0001c0001t0013g0089 a0001c0001t0013g0115 a0001c0001t0018g0110 a0001c0001t0019g0088 a0001c0001t0020g0109 a0001c0001t0023g0081 a0001c0006t0002g0087	82	382	0.2147	-1458	c.690 others(16): Show c.690+1048_691-221del	CWC25	ENSG00000273559.5	transcript	ENST00000614790.5	protein_coding	6/9			chr17	TogoVar

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