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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PPP6R2_chr22_50338327_50450090	50433797	TGCTGGGC others(736): Show TGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGC CGGGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAAC CTGGAGGAGGGCCGGGGGCGCAGACGCTGGGCAGGGGCCGGGCATTTGCT CTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATGCTGGGCAGGGGC CGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCGGACG CTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCG GGGGCATGGATGCTGGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCT GGAGGAGGGCCGGGGGCGCAGACGCTGGGCAGGGGCTGGGCATTTGCTCT GGAGGTGAACCTGGAGGAGGGCTGGGGGCATGGATGCTGGGCAGGGGCCG GGCACTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCATGGATGCT GGGCAGGGGCCGGGCATTTGCTCTGGAGGTGAACCTGGAGGAGGGCCGGG GGCATGGATGCTGGGCAGGGGCCGGGCATTTGCCCTGGAGGTGAACCTGG AGGAGGGCCGGGGGCGCGGACGCTGGGCAGGGGCCGGGCATTTGCTCTGG AGGTGAACCTGGAGGAGGGCCGGGGGATGGATGCTGGGCAGGGGCCGGGC ATTTGCCCTGGAGGTGAACCTGGAGGAGGGCCGGGGGCGCGGAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG03098.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0288 a0001c0002t0003g0294 a0001c0002t0003g0301 a0001c0002t0003g0288 a0001c0002t0003g0294 a0001c0002t0003g0301	3	168	0.0179	-743	c.140 others(18): Show c.1401-1074_1401-332del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
ZNF516_chr18_76352682_76500242	76393347	GGGGAAGG others(736): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0041 a0002c0009t0041	a0002c0009t0041g0114 a0002c0009t0041g0114	1	337	0.0030	-743	c.181 others(21): Show c.1811-13787_1811-13045del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393895	AGGTGGTC others(736): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0234 a0001c0001t0072g0234	1	337	0.0030	-743	c.181 others(21): Show c.1811-14335_1811-13593del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(735): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02165.hp1 HG02155.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0039 a0001c0003t0001g0106 a0001c0001t0002g0039 a0001c0003t0001g0106	2	138	0.0145	-742	c.910 others(17): Show c.910+2971_911-2531del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CPM_chr12_68846175_68938171	68861995	TTTAATAG others(735): Show TTTAATAGAACAGATTTGACTTTTTTGACAGTCACATGACAGTGATTTTG GATGGCCTCAGGGACTTGAACAACACCTACGTATCAGTGTGTGCTGCAGC TGAATCAAGGCTCCAGTCAACCTGCGGTCTGCCTACCCTCAAAGATAGAA AAAGGAAGAACAATTTGCATTTGAAGAAATGTCTGAAAATCTTCATATTC CAGTTTGACCCTCATTCGTCATCCCCTAATAACCCAAAGATTCACTTTCT TTTTTTTTAAATTGAAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGG CACCAGTTCGGCTCACTGCAACTTTCATCTCCCGGGTTCAAGCGATTCTC CTGCCTCAGCACCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACACC TGGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTCACCACGTTGGCCAG GCTGGTCTCGAACTCCTGATCTCAAGTGATCCGCCCACCTTGGCCTCCCA AAGTGCTGGGATTACAGGCCCAAAGACTCACTTTCATATGACTCTTACCT AAACCTAAAGATGGTTCTTCCAGCTATGGAAGCCTGGGGTATGCGAATAT CACTGTTACTGGGCAAACACAGACCATGCTTATGTATGGAATTTATATTC AAAGGAAAACCCCTCCCACCAGCCAAATAAAAGCGTGCTTTAGCTTGTAT ATGTCTTTACAATATTTTGTCTACATACCACCAAACCTTTTAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG00741.hp1 others(55): Show HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19062.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0004 a0001c0006 others(6): Show a0001c0001 a0001c0004 a0001c0006 a0001c0016 a0002c0005 a0002c0010 a0003c0011 a0003c0012 a0007c0015	a0001c0001t0002 a0001c0004t0002 a0001c0004t0004 others(26): Show a0001c0001t0002 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0011 a0001c0004t0016 a0001c0004t0021 a0001c0004t0033 a0001c0006t0002 a0001c0006t0004 a0001c0006t0005 a0001c0006t0029 a0001c0006t0031 a0001c0006t0043 a0001c0016t0011 a0002c0005t0002 a0002c0005t0005 a0002c0005t0012 a0002c0005t0015 a0002c0005t0019 a0002c0005t0020 a0002c0005t0021 a0002c0005t0022 a0002c0005t0030 a0002c0010t0002 a0002c0010t0004 a0003c0011t0004 a0003c0012t0008 a0007c0015t0034	a0001c0001t0002g0295 a0001c0004t0002g0041 a0001c0004t0004g0164 others(53): Show a0001c0001t0002g0295 a0001c0004t0002g0041 a0001c0004t0004g0164 a0001c0004t0004g0213 a0001c0004t0005g0067 a0001c0004t0005g0147 a0001c0004t0005g0150 a0001c0004t0005g0151 a0001c0004t0005g0156 a0001c0004t0005g0181 a0001c0004t0005g0271 a0001c0004t0005g0277 a0001c0004t0011g0060 a0001c0004t0011g0063 a0001c0004t0011g0209 a0001c0004t0011g0229 a0001c0004t0016g0104 a0001c0004t0016g0105 a0001c0004t0021g0053 a0001c0004t0033g0272 a0001c0006t0002g0005 a0001c0006t0002g0143 a0001c0006t0002g0300 a0001c0006t0004g0243 a0001c0006t0004g0245 a0001c0006t0004g0247 a0001c0006t0004g0249 a0001c0006t0004g0250 a0001c0006t0004g0280 a0001c0006t0005g0189 a0001c0006t0005g0294 a0001c0006t0029g0244 a0001c0006t0031g0241 a0001c0006t0043g0217 a0001c0016t0011g0129 a0002c0005t0002g0307 a0002c0005t0002g0308 a0002c0005t0002g0332 a0002c0005t0005g0012 a0002c0005t0012g0014 a0002c0005t0012g0018 a0002c0005t0012g0019 a0002c0005t0015g0007 a0002c0005t0015g0008 a0002c0005t0019g0314 a0002c0005t0019g0328 a0002c0005t0020g0006 a0002c0005t0021g0325 a0002c0005t0022g0013 a0002c0005t0022g0016 a0002c0005t0030g0020 a0002c0010t0002g0026 a0002c0010t0004g0033 a0003c0011t0004g0036 a0003c0012t0008g0321 a0007c0015t0034g0298	58	338	0.1716	-742	c.941 others(17): Show c.941-3666_941-2925del		CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	7/8						chr12	TogoVar
DPH7_chr9_137549444_137583925	137566336	TCTGTCTG others(735): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	334	0.0030	-742	c.641 others(17): Show c.641-1924_641-1183del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241805520	CTCCCTCC others(735): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCC TCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	283	0.0035	-742	c.13 others(11): Show c.1355_*2096del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1234		chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346223	TGAGAACA others(735): Show TGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGATCCGGGAGGA CCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACC CGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTG AGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATC TGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCG GGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAG AGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTC TGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCG GGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAG CGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGG AGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAG CAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTG TGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGG AGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	153	0.0065	-742	c.466 others(17): Show c.466-2006_466-1265del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346646	GGACCTGG others(735): Show GGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGG CAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAG ACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGG ACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGAT CTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCT GAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGAC CTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCC GGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGA GAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCT CTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCT GGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTGA GCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCT GTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	207	0.0048	-742	c.466 others(17): Show c.466-2429_466-1688del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
NUP210L_chr1_153987690_154160073	154005739	TTGAGACA others(735): Show TTGAGACAGCGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGA TCTCAGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCC TGAGCCTCCTGAGTGGCTGGGATTACAGGCATGCGCCATCACACCTGGCT AATTTTGTATTTTTAGTAGAGACGGGTTTCTCCACATTGGTAAGGCTGGT CTCGAACTCCCGACCTCAGGTAATCTGCCCACCTCAGTCTCCCAAAGTGC TGGGATTACAGGCATGAGCCACCGCGCCCCGCCCTAATTTTGTATTTTTA GTAGAGATGGGGTTTCTCCATGTTGATCATGCTGGTCTTGAACTCCCAAC CTCAGGTAATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCG TGAGCCACCGCACCTGGCCAAAAACTGCCTTCATTTTTATTTTATTCATT TATTTATTTAGACAGAGTCTTGCTCTGTCACCAAGGCTAGGGTGTAGTAG CATTATCATGGCTCACTGCAGCCTCAACCTCCTGGGCCCAAGTGATTTCA TCTTATTTTTGGAAAAAAAAACAAACTAAACCAAAACTAAAACAAACTTC TCTAGGGCCCTATATTGCCTGGAATGTCCTGTTCTCTTCACATCTAGTTC ACTCTTAGTCATACTTCTAAAGGTCATTCCCTCTGTAAAACCTTACTTAA TTTGGCTCTAGGTTTCATATAGATACTCCTCCTTTCTTTCTGC	T T	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	288	0.0035	-742	c.493 others(19): Show c.4930+3491_4931-3755del		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	35/39						chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408249	GCTAGCGC others(735): Show GCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCT TGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTA GCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGT TTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGG AGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCAC GGGAGTTTAGCTAGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGT CACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGAT GGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCA GATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTG GCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATA GTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAG ATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTG TAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGA CTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATT TGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02647.hp2 others(13): Show HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0005 a0008c0012t0015 a0001c0001t0005 a0008c0012t0015	a0001c0001t0005g0007 a0001c0001t0005g0021 a0001c0001t0005g0022 others(7): Show a0001c0001t0005g0007 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0045 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0086 a0001c0001t0005g0087 a0008c0012t0015g0085	16	266	0.0602	-742	c.11 others(11): Show c.1146_*1887del		OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding					230		chr1	TogoVar
PCGF3_chr4_700832_775089	758814	CTCCGGAC others(735): Show CTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTG TTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG CTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCT CCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCC TCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGC CCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGC GGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCG CGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCC CCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTC TCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCT TTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGG TCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCC GGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03471.hp2 HG01243.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0284 a0001c0001t0023g0288 a0001c0001t0023g0284 a0001c0001t0023g0288	2	229	0.0087	-742	c.463 others(17): Show c.463-2366_463-1625del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
ACAN_chr15_88798436_88880353	88855709	ACTGCCCC others(734): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGA AGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTT CTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGG CTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACAT CAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAG AGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp2 HG02717.hp2	a0060 a0060	a0060c0097 a0060c0097	a0060c0097t0001 a0060c0097t0001	a0060c0097t0001g0160 a0060c0097t0001g0160	1	282	0.0035	-741	c.318 others(9): Show c.3180_3920del	p.Thr others(15): Show p.Thr1061_Thr1307del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3561/8960	3180/7707	1060/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
BCAS3_chr17_60672851_61397831	61373451	ATTTTTTT others(734): Show ATTTTTTTTTTCTCTGTCACCCAGACTGGAGTGCTGTGGCACGATCTCGG CTCACTGCAACCTCCACCTCATGGGTTCAAGCGATTCTCATGCCTCAGCC TCCTCTCCTCAGGCCCTTTCCTGAGTGGCCAGGACTATAGGCGTGTGCCA ACATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATG TTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCCAAAGTGCTG GGATTACAGGCATGAACCACGATGCCCAGCCCCTGTTTAAAGTATTCTTG ATGCATCTCTGTTGCAGGAAGTATCTGTTTGCTGCTGTTAACTTCTTCTT CTTCTTTGTTTTTTTTTTTTTTTTTTTTGCTCTGTCACCCAGACTGGAGT ACAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCATGGGTTCAAGC GAATCGCATGCCTCAGCCTCCTCTCCTGGGGCCCTTTCCTGAGCGACTAG GACTACAGGCGTGCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAG AGACGGAGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGGCCTCA AGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAA CCGCAGTTCCTGGCCCCCATTTAAAGTATTCTTGATGCATCTCTGTTGCA GGAGTATCTGAGTATCTGTTTGCTGCTGTTAACTTCCTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp2 HG02451.hp2 HG01891.hp2 HG01952.hp2 HG02451.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0007 a0003c0001 a0001c0002 a0002c0007 a0003c0001	a0001c0002t0002 a0002c0007t0001 a0003c0001t0001 a0001c0002t0002 a0002c0007t0001 a0003c0001t0001	a0001c0002t0002g0057 a0002c0007t0001g0004 a0003c0001t0001g0007 a0001c0002t0002g0057 a0002c0007t0001g0004 a0003c0001t0001g0007	3	74	0.0405	-741	c.259 others(19): Show c.2593+4981_2593+5721del		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
DDX51_chr12_132131594_132149319	132134721	CCCGAGTG others(734): Show CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCC CACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGT GTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCC CACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02723.hp2 HG01106.hp1 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0021 a0002c0002t0003g0004 a0002c0002t0002g0021 a0002c0002t0003g0004	2	327	0.0061	-741	c.38 others(11): Show c.3810_*4550del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1872		chr12	TogoVar
KCNMB2_chr3_178531436_178849429	178832342	GGCCTATT others(734): Show GGCCTATTTTAAAGATTATTTTATTGGTTTTTCTACAGTTTAACTATTAT GTGCCAATACATGCAATTATTTTTATTTAGCCTACTTAGCATTAGCATTT CCAGGGCTTCTTTCCCTGCTCCTTAATATTCTTTGTCAATTTTAGAAAAT TCTGTCATTATCTCATCAACATTGTCTGTAGTCATTCTCTGCCTCTTCAC CTCTGGGACTCCAGTTGGCCACATACGAGGTTTTCTCATTGTATCCCCTA CATGTCTTATGCTCCCTTTTGTTTTTCTCCCTCCTTTTGTCTCTCTTTAC TTCTTTCTGGATACATTCCTATCTTCTAATTCAGCAATTCTTTCCTCTGC TCTGCAGATCAACTGTTAAACCCATCCATTGAGTCCTTAATTTCTCTTAC TGTATTTTCAATTCTAGAATATCCAACTGAGTCTTGTTTTATCATTTCTA GTTCTCTGCAATATTTTAATTATTGTCTTTTAAATCTTTCAACATAAAAA GTAAAATTATAGTCATTATAAAGTCTATTTTGATATCTTCACTATTTGAA GCCCATATATACCTGTTCTGTTTTTGTTTTCTCTTGTTTGCTTTCATGTT GTCTTATAATATCTGGCTATGTTTTATTAGGTTTCTGATATTATATTTGC AAAATTTTTATAAAAAATAACTTCAATACTAGGATAATGTTACAATGTCA TCTTTTCCAAAAATTATTTCCACTTACTTCTGCCAGGTACAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp2 others(155): Show HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18949.hp1 NA18953.hp1 NA18960.hp2 NA18963.hp2 NA18968.hp1 NA18971.hp2 NA18979.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0108 others(155): Show a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0161 a0001c0001t0001g0200 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0056 a0001c0001t0003g0064 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0167 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0003g0187 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0016 a0001c0001t0004g0019 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0109 a0001c0001t0004g0125 a0001c0001t0004g0129 a0001c0001t0004g0136 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0181 a0001c0001t0004g0185 a0001c0001t0004g0202 a0001c0001t0005g0003 a0001c0001t0005g0128 a0001c0001t0007g0208 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0004t0001g0084	158	232	0.6810	-741	c.423 others(17): Show c.423+3973_423+4713del		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
NKD2_chr5_1003802_1043943	1022501	AGTGGGTG others(734): Show AGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCT TTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTG CTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCA CCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGT GGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCC CAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGC TCTTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCAC CTGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAG CCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTC CCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTT CCCACCCGCTGTGGGCATCCCAGCCCATTGTCCCTGCTCTTCCCACCCTC TGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01496.hp2 others(7): Show HG00639.hp1 HG00741.hp1 HG01496.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02897.hp1 HG03654.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0183 a0001c0002t0001g0226 a0001c0002t0003g0004 others(5): Show a0001c0002t0001g0183 a0001c0002t0001g0226 a0001c0002t0003g0004 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0109 a0001c0002t0003g0268	10	318	0.0314	-741	c.142 others(17): Show c.142-9645_142-8905del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NXN_chr17_794310_984776	942202	CCCTGGAT others(734): Show CCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACAT CACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAG GGTGCAGCCATGAATTCACCACACACCTTCCTGGATTTACAGTGAACAAG ATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGC GAACAAGATTCCAGGGCGCAGCCATGAACTCACATCACACCTTCCTGGAT TTACGGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTT CCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATC ACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAAC TCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGC CATGAATTCACCAAACACCTCCCTGGATTTACAGTGAACAAGATTCCAGG GTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGA TTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTG AACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0057 a0001c0001t0003g0061	2	212	0.0094	-741	c.360 others(19): Show c.360+36376_360+37116del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1070874	GAGCCCCC others(734): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTAT GCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	113	0.0088	-741	c.224 others(19): Show c.2241+2018_2241+2758del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
TBCA_chr5_77686166_77781339	77707050	CACCTCAG others(734): Show CACCTCAGAGGATATGTCAAGTTTCAAGGTGAAAGTGGTAACTTGTGTCA GATGCTATTGAGGTATTTAAGATGAGGGAAAAAAGAGTAATAACAATGTC ACTGATAGTTATAACAAGGGCTAGGGCACATAGTCCACTCTTACAGGAAG GAAAGTGGTACAGGTACAGATGCAGATAGGTTGACAGATTTTGTCGTAAG AATATGAGAAAGTTCCCTAACGGCCTCTATTTTCTCAAGGAATTATGAAG CAAGTGTCAGCTGAGAATGAATGTTCAATATATGCTATCATGGGAATAAA GAAAGTGTTATGGGAGCAAAAAGGAGGGGCACCTAACTCAGTTTGAGGTG AGAGTAGAAGAGACCTCAAGGAAGAACAGAAATTAATAAGGAGAGGGTAG GTAAGGCCAGGAGTAAGAGCATCCCAGACATGCAAAATTTCAGAGGCAAA GAAGAAAGGGCATGTTCAGGGAGCTATAAGGCACCTAAGAGGTTGAGACA GGGATTGGTAAGAAATGAGGTTAGATAAGCAGATGTAACCTCATTTCTTG ATTCAAAATCAAGAAGAGCCTTGTATGCAATGTTAAGGCCACTGAAATTT GTCATGAAGACAATCACAAGTAGCCATTGAAAAGTGCAATGCGTATTTTA TTTTTGTAGTCTTCACATCAGTGTGGAGACAATATTTGTGAATCTAAATA TATAATTAATATAAGATTAGTCCATTTTTATATCTGATACTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18953.hp2 NA18985.hp2 others(2): Show NA18747.hp2 NA18953.hp2 NA18985.hp2 NA19056.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023	5	352	0.0142	-741	c.159 others(16): Show c.159+451_159+1191del		TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding	2/3						chr5	TogoVar
TPCN2_chr11_69043932_69095597	69068316	CGTCTGAG others(734): Show CGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCC TAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGAC CGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAG CAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCT GAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGA AGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAG TGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAACAGGA CCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTC CTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGA CCACAGGGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGA GCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTC TGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGG AAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTTACCGCA CTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGG ACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0287 a0001c0001t0011g0287	1	402	0.0025	-741	c.829 others(16): Show c.829+734_830-1351del		TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
TULP4_chr6_158307465_158516828	158364897	GGCTAATT others(734): Show GGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGTCA GGATGGTCTCGATCTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCTAGATTTGTT TTTATCCAGTCTCTGCTTGGCACTCATTGCGAGCTTTCAGAATTGAGATT CAAGTCTTCAATTATGGCACATTTTTAGCGTTAGTTCTAGTATTGCCTCC CCACCACTCCTTCTAGCTTTATTTCTGGAAATCCTACTAGATGTGTTTCT TTTCACTCTACCTGTTATGTTACTTCACTTCTCATAGAGAGAAGTGTTTT ATCTCTATTCTATACACAGAGTGAATTTAATTTACTAATTCTCTCGTTTA CTGTGCTTGGTGTTGTTTCTCCCCATCTACTGACCATATATTTCATTTTC AGGATTTTGAATAGGTTTTTGTTTTCATAACTACTGCCTGATTTTGTTTC TAAAAATTTTTTTTTTTCTGGTTATTTTTCTTGTGTATCTCTTTGGAAGT TTTTTTTTTCTTTTTTTCTTTTTTCTTTTTTCTTTTTTTTTTGTTTTTGA GACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCA GCTCACTGCAAGCTCCGCCTCGCAGGTTCACGCCATTCTCCTGCCTCAGC CTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0032 a0001c0015t0032	a0001c0015t0032g0180 a0001c0015t0032g0180	1	266	0.0038	-741	c.253 others(19): Show c.253-48154_253-47414del		TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC200_chr17_43216420_43233623	43232883	TGGGAAGG others(733): Show TGGGAAGGCACCCGTTACTTAGCAGAATTACTACGCAGCCATAAAAAAGG ATGAGTTCATGACCTCTGCGGGAACGTGGAGGGAGGAAAAGGCCTCATTC TCAGCAAACTGACACAGGAAGCGAAAACAAACACCGCATGTTCTCGCTCC TAAGTGGGAGTTGAACAGCGAGAACACATGGGACACAGGGAGGGGAACAT CACACGCCGGGCCCTGACGGGGCGTGGGGGGCAAGGGGAGAGAGAGCATT AGGACAAATAGCCAACGCATGCGGGGCTTCAAACCTAGACGACTGGTGGA TAGGTGCAGCAAAGCACCGTGGCACACGTGTACCTATGTTCCAAACCTGC ACGTCCTGCACATGTACCCCAGAACTTGGGAGGGGGTGGGGGAAACCAAA AGAGCGAGGGAGAGGCGGGGGGGGGGAAGAGAGAGAGAGAGGGAAAGAGA GAGAGAGACAGAGAGAGGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAG AGAGAGAGACAGAGAGAGAGACAGAGAGACGGAGAGACAGAGAGAGAGAG AGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGGAGAAA GAAGAACTCCGGGTGGGTCCCATTCCTTTAAAAGGTCGCCACCCACTCGA CTGCCAAGCTGAGATCCTAAGGACCTCCCCAAAGGAGGAGGTCGTGGCCT TCCCAAAGCGCAGTAGCCACGGTGGAAACGACAGCGTGCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 NA18969.hp1 HG01975.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0182 a0001c0002t0001g0121 a0001c0001t0002g0182 a0001c0002t0001g0121	2	332	0.0060	-740	c.-50 others(11): Show c.-5069_-4330del		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					4261		chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241806913	TTCCCTCC others(733): Show TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	136	0.0074	-740	c.27 others(11): Show c.2748_*3487del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2627		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149312	CACACCAC others(733): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	292	0.0034	-740	c.901 others(15): Show c.901+418_902-929del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14						chr12	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(733): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0044 a0002c0002t0044	a0002c0002t0044g0032 a0002c0002t0044g0032	1	310	0.0032	-740	c.462 others(14): Show c.462+36_462+775del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746261	CTCTCCGT others(733): Show CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	362	0.0028	-740	c.462 others(17): Show c.462+1576_462+2315del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
RASA3_chr13_113972783_114137623	114005904	CGGACGCC others(733): Show CGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGGATGCCACCT TACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCT CCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCG GACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTCC TGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACG CCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCT TCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCC CTGCCGGACGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCC ACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACGCCACCTTACCCTTC TCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCC CTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCAC CTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTC CCCACTCCTGCCCTGCTGGACGCCACCTTACCCTTCTCCCCACTCCTGCC CTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp2 HG01167.hp2 others(16): Show HG00621.hp2 HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01433.hp1 HG01943.hp1 HG01981.hp1 HG02258.hp2 HG02300.hp2 HG02723.hp1 HG04228.hp1 NA18522.hp2 NA18945.hp2 NA18954.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0009t0008	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0034 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0002g0032 a0001c0001t0005g0023 a0001c0001t0007g0033 a0001c0002t0001g0058 a0001c0009t0008g0048	19	64	0.2969	-740	c.174 others(18): Show c.1742+889_1742+1628del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23						chr13	TogoVar
ZNF512B_chr20_63951704_63974930	63964842	GACCTGGG others(733): Show GACCTGGGACAAGCCCCCATACCTTTTCTTACCACTGTTCCCTGACCTGG GACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGAGC CCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATA CCTTTTCTCACCACTGTTCCCTGACCTGGGACGAGCCCCCATACCTTTTC TCACCACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCAC CACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTT CCCTGACCTGGAACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGAC CTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGAC GAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCC CATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCT TTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCA CCACTGTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGT TCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCCCGA CCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTG GGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	354	0.0028	-740	c.103 others(17): Show c.1034+559_1035-127del		ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16						chr20	TogoVar
ARID1B_chr6_156772378_157215779	157089230	TGGTAAAT others(732): Show TGGTAAATGTAATTGACAGCTAATGAGAAGTATCACAGAGGTAGATAAAC GAAGCCCAGTAAAGCATCCCAAATGGCTGATTCTGTTTCTTGCCTGTTAA ACTGTTCCTCCACCCACTGCAGATTTGCCCTCCTATCTTGCTGCATCACA AACATTGTGAGTGTCATGGGAACCACTACTGTGATACACTGGTACAACAC TGCCCCGCCACATCCCTAACTCAGCTGGGCTTTTCCTCCTGCATTCTTTG GAGAAGCAGAATGGAGATTTTTTATGTTAGGTAGCCACATGGATTCTCTC CCTTTGTTTGCACATTCCTGGGCTCCAGCTTTGCAGCTCTCTATAGTTAG AAGGTAAAGAATTCAGGCCTGCTTGTTGACTCTAAACAAGCATTTGAGAA CAGAAACACAAACGCTGTACTCTCCCTCCAGTGCCATCACAAATTTTCTT GTTTTTTACCTATTCTCTCTCCTCTTCATACTGATGTATTTATATTTAGA GACAGAAATGAAATAGCTCCATCTTTGTAATTGGCAGTGTGTATTCATAT ACTATACATTTAAATTAAGTAGATGTAATGTCAGGTACAGTTAATTCTGA AATGTGTGATATTAGACATGATGCTGATATTCTAGTAAATGATCCCATCA CGTTGCACTTACACTGCTTCTTGGGTTATATCCTAGCGTTTTTCACTTTG GCGTTAGGAGGGCTGCTGGGTTTTGGATGTGTATTGAACA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG00642.hp1 HG01175.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0001 a0001c0001t0001 a0007c0006t0001	a0001c0001t0001g0090 a0007c0006t0001g0036 a0001c0001t0001g0090 a0007c0006t0001g0036	2	148	0.0135	-739	c.249 others(19): Show c.2491+4329_2491+5067del		ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
C1R_chr12_7075219_7097445	7083650	GNNNNNNN others(732): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	13	0.0769	-739	c.127 others(19): Show c.1273+1472_1274-1545del		C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10						chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88950413	CCGGCACC others(732): Show CCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTG TTCACCCCTCCCCCGGACCGGCACCGCCACAGAGGGTCAGGAGTGTTGGC ACCTGTCTTCCGGGTCAGTTCACCCGTCCCCTGGACCGGCACCGCCACAG AGGGTCAGGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCCCCT GGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGAT CTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTG GCACCTGTCTTCCGGATCTGTTCACCCGTCCCCTGGACCGGCACCGCCAC AGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCCCC TGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGA TCTGTTCACCCCTCCCCTGGATCGGCACCGGCACAGAGGGTCAGAGTGTT GGCACCTGTCTTCCGGATCTGTTCACCCGTCCCCTGGACCGGCACCGCCA CAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCCTCGC CTGGACCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGG ATCTGTTCACCCCTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGT TGGCACCTGTCTTCCGGATCTGTTCACCCCTCCCCTGGAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	282	0.0035	-739	c.151 others(19): Show c.151+25505_151+26243del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CCDC77_chr12_396644_447642	420003	TTCCATTA others(732): Show TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACAC ACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTA CAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACAT AGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG03098.hp2 HG02630.hp1 HG02818.hp2 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0403 a0003c0003t0002g0368 a0003c0003t0002g0379 a0001c0001t0002g0403 a0003c0003t0002g0368 a0003c0003t0002g0379	3	169	0.0178	-739	c.413 others(17): Show c.413+1527_413+2265del		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
DPP10_chr2_114437641_115850780	114870527	CAAAAAGT others(732): Show CAAAAAGTAGTCAGGTAGAAAGGGGGAACTCTTGGCTGAAGGACACATAT AAAAGGATGCAGAGACATTAAAAGGTGAAGATGTCACCCTAGAAGTGAGT GTTACAGAATCTCAAAAAAAATATTTTGATAATATCACAAAAGAGGATGA GTTTCTGTTTTTACTAAAAAAAATGATTCCAATGGTCAGGTAAGATAAGA TTTACAAATAATGGAATATCTTTATTAACCCATGGAACTAATGCAAAGTT CATTTTTATTTTAGATAAAGTGCCTATTTTACATAGATTTCCTCTTAACA GAGAACGTCCATCGGGATCTTTTCATGAACAGATAGCTTAGCAAGCTTAG CTGGGCCTGTTGTAGAACTTGTTGATTAAATGACTGGGAATCCTAAAAGG GTTGGGGTAGTGTCTCCGCATGGTCAGAGGTGTCAGTGACATCTACCCTC TTTTTCTTTTCTTTTTTTTTTGTTACTTAATTTAAGCAGCATCCCTCTGC TTTTCTTTGTCTTTATTAATTGTCCTTTGAAAGATGGTAAATATATGGCT TCTCCAGTTGTGGTCTTTGGTGCTCCTTCAGAGAAGGCTGGTATTTACCC TCTAGCTTTCCCGATTTGAACTACGTCAAATAATGACCTTGCCCCACCCA GCTCTTTTTCTTTTTTGGAGAGGTTGTCACCATGAGCCCCTTTGGAAAAA AATCCATCTTTCTCTATTATTGGGGGAAAGAACACTGAAG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02735.hp1 HG02818.hp1 others(6): Show HG01192.hp2 HG02735.hp1 HG02818.hp1 HG03516.hp2 NA18986.hp1 NA19043.hp2 NA19079.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0002c0001 others(2): Show a0001c0002 a0001c0004 a0002c0001 a0003c0003 a0004c0005	a0001c0002t0001 a0001c0004t0008 a0002c0001t0002 others(4): Show a0001c0002t0001 a0001c0004t0008 a0002c0001t0002 a0002c0001t0005 a0003c0003t0003 a0004c0005t0003 a0004c0005t0012	a0001c0002t0001g0012 a0001c0002t0001g0028 a0001c0004t0008g0045 others(6): Show a0001c0002t0001g0012 a0001c0002t0001g0028 a0001c0004t0008g0045 a0002c0001t0002g0053 a0002c0001t0005g0029 a0003c0003t0003g0008 a0003c0003t0003g0049 a0004c0005t0003g0030 a0004c0005t0012g0031	9	56	0.1607	-739	c.60+ others(19): Show c.60+427693_60+428431del		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM120B_chr6_170301758_170412067	170398534	ACTCTTAG others(732): Show ACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAAGCCTTAGGAG TGAGTGGGGAAGGTAGAACTATGTCTTAACTCTTCGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTAT GTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCT TAGGAGTGAGTGAGAAAGGTAGAACTACGTCATAAGCCTTAGGAGTGAGT GGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTATGTCAT AACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACCCTTAGGAGT GAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAAG GTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTT AGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTG AGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGGAAGGTAGAAC TATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp2 HG02055.hp1 HG03225.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0012 a0005c0007t0012	a0005c0007t0012g0005 a0005c0007t0012g0005	2	288	0.0069	-739	c.269 others(19): Show c.2692+2958_2692+3696del		FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
FUCA1_chr1_23840077_23873290	23860452	TGGGCGCC others(732): Show TGGGCGCCTGTATTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACT CCAGCCTGGGCGACGGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAA CACACAGCATTTTGGTATATTTCCTCCTGATCTTTTCCTTTCTTCCTTTT TTTTTTTGAGACTGTTTTGCTTTGTCTCCCAGGCTGGAGTGCAGTGCTGT GATCTCGGCTCACTGCAACCTTCACCTGCTGGATTCAAGTGATTCTTGCA CTTCAGCCACCCAAGTAGCTGGGATTACAGGTGTGCACCACCATGCCTGA CTAATTTTCATATTTTCAGTACAGACAGTGTTTTGCCATCTTGGCCAGGC TGGTCTTGAACTCTTGGCAGCAAGTGATCCACCTGCCTCGGCTTCGCAAA GTGCTGGGATTTCAGGCATGAGCCACTGTGCCTGCCCTAATCTTTTTTCT TTATGCCTTTTAGGAAATGGAGGTGTAATCAGCATACAAACAATTTGGTT TCCTTTCAGCAACTAATTCCAATTAAGAATGGGTGCAGCTGGCCGGGCAC AGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCGGGAGATCGAGACCATCCTAGCTAACACCGTGAAACCCCA TCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18981.hp2 NA18959.hp2 NA18981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0199 a0003c0003t0001g0200	2	378	0.0053	-739	c.663 others(16): Show c.663-1288_663-550del		FUCA1	ENSG00000179163.12	transcript	ENST00000374479.4	protein_coding	3/7						chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241805485	CTCCCCCC others(732): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	2	311	0.0064	-739	c.13 others(11): Show c.1320_*2058del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1199		chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346672	GCGGATCT others(732): Show GCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCT GTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGG GAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGA GCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCT GTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGG GAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGC AGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGT GGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGG ACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAGCAG ACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGG CAGAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGAGCAG ACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCA GAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGAC CTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGGCT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	259	0.0039	-739	c.466 others(17): Show c.466-2452_466-1714del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
IDI1_chr10_1034419_1054119	1046860	TCTGTCTA others(732): Show TCTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCA CACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACT GTCTGGTCCTTTGTCTACACCACACAGCCCAGCTGCTCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(152): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0091 a0001c0001t0007g0050 a0001c0001t0009g0044 a0001c0001t0010g0045 a0001c0001t0011g0046 a0001c0001t0012g0051 a0004c0005t0001g0036	155	436	0.3555	-739	c.140 others(17): Show c.140+1265_140+2003del		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4						chr10	TogoVar
MYT1L_chr2_1784113_2336275	2034994	CGGGTGCA others(732): Show CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAATCTCCACCCTCCAA TGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTC CAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACC CTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACCATCTCC ACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACCATC TCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCACAA TCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAA CAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCC CAACAATCTCCACCCTCCAATGTGGGTGCAGAAGAGAGCTCCTAACTTCT CCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACT TCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTA ACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTC CTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAG CTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGA GAGCTCCTAACTTCTCCCCACAATCTCCCCCCTCCAATGT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0028 a0001c0021t0002g0028	1	102	0.0098	-739	c.-15 others(21): Show c.-158+18245_-158+18983del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24						chr2	TogoVar
NEU4_chr2_241804193_241822413	241805485	CTCCCCCC others(732): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCA AGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	316	0.0032	-739	c.-37 others(11): Show c.-3792_-3054del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3707		chr2	TogoVar
PCGF3_chr4_700832_775089	745127	GCCGTGGA others(732): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	350	0.0029	-739	c.462 others(16): Show c.462+475_462+1213del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745496	CCCCGGGG others(732): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	362	0.0028	-739	c.462 others(16): Show c.462+816_462+1554del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745781	CCCCGGGG others(732): Show CCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	359	0.0028	-739	c.462 others(17): Show c.462+1118_462+1856del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746293	CCCGGGGG others(732): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAG TGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	361	0.0028	-739	c.462 others(17): Show c.462+1608_462+2346del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
SNTG2_chr2_945849_1372613	1112791	GTGAGGTT others(732): Show GTGAGGTTTAACCCTTGCAGTCGTTTGAGAAGGATAGTGAGTACTAAGTG AGGTTTAACCCTTATACTCCTTTGAGAAGAATCGTGTGTACTAACTGAGG TTTAACCCTCACAGTACTTGGAGGAGGATCATGTATACTAAGTGAGGTTT AATACTTACATTTCATTGAGGAGGATTTTGTGTACTAAGTGAGGTTAAAC CTTGCAGTCCTTTGTGAAGGATCATGTGTACTAAGTGAGGTGTAACCCTT ACAGTCCTTTGAGAAAGATGGTGTGTACTAAGTGAGGTTTAACCCTTACA GTCCTTTGAGAAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTC CTTTGAGGAGGATCGTGGGTACTAAGTGAGGTTTAACCCTTACAGTCCTT TGAGAAGGATCGTGTGTACTGAGGATTAACCTTTACAGTCCTTTCAGAAG GATGGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGGAT CGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTTGAGAAGGATCGT GTGTATTAAGTGAGGTTTAACCCTTACAGTGTTTTGAAAAGGATCGTGTG TACTAAGGTTTAACCACTATAGTCCTTTTATGAGAACCATGTGTACTAAG TGAGGTTTAACCCATACAGTCCTTTGAGAAGGGTCGTGTGTACTAACTGA GGTTTAACCCTTACAGTCCTTTGACGAGGATTGTGTGTAC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA21309.hp2 HG03710.hp1 NA21309.hp2	a0003 a0007 a0003 a0007	a0003c0007 a0007c0016 a0003c0007 a0007c0016	a0003c0007t0001 a0007c0016t0001 a0003c0007t0001 a0007c0016t0001	a0003c0007t0001g0080 a0007c0016t0001g0143 a0003c0007t0001g0080 a0007c0016t0001g0143	2	188	0.0106	-739	c.325 others(19): Show c.325+14397_325+15135del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291723	ATGTCCCT others(732): Show ATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCC CTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTAC CTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCG TGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCC CTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCC CCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCC ATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGC ACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCC CGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGT CCCCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACACTCCGTGTCCCCCATGTCCCTCCGTGTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	256	0.0039	-739	c.121 others(16): Show c.1214+37_1214+775del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
CYP4F11_chr19_15907377_15939529	15931087	AAGGGAGT others(731): Show AAGGGAGTGGCCAACTTTTATTCAGGCAGGTAACAAGGCCGACTGGGACA TGTTAGTGAGGAAGAGCAAGATAGGAGGAAGGTGCCTCCAGAAAAGGAGG CAGCGGGAGACTGCCCACACTTCTCTTCTGGACCCTCTGTGTCCCTGCGT ATGGAAAGGGGCTCAGAGCTAATTCCTGTGAGAAAGCAGCAGCACAGAGA TGGGCAGACACAAGCAAATGGGCCAGGCAGGGAGTAGTCCCTGGACAGTA GACTCAGGAGGCCTCAAGTCCAGCAGTGGAGAAGGTGCAAATGCCAGGAG ATCTTTGCTCTGTGCACCCATACCACTCCCACAGGAGACCCTCAGAGGTG CAGTAACACAGGGAAGACAGGCAGGAAAAAGATCCAAGCAGGCTGGAGTG GGAGGACAGGGAGGTGAGAAAGACTTGGGATGGCACATCAGAGGAATGAG TGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGA GAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAG TGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGA GAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAG TGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGA GAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0053 a0003c0003t0053	a0003c0003t0053g0071 a0003c0003t0053g0071	1	382	0.0026	-738	c.199 others(17): Show c.199-2224_199-1487del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
ETV6_chr12_11644674_11900377	11873481	CAGCTGTT others(731): Show CAGCTGTTAGATGAGAAAACTTAGTTCCTTAAAGCTTTTCAAATGAGCAC AGCACAAAAAGAAATGAAGGTGCTGCTGAATGTCAAACTGATGAGTACTA TAGCTGGAGGGTATAGATGGAAATAGTACTCATGAATGTGGATCACAAAA TGAAGCTAAATTCTTACTATTCAGATATGATTTGTTCAGGTGCCCTAGAA TTTATGCATTTGGACACCTTCTGTGTATAAGGCACTGTTCTGCATTCTTG ATGGGGTGGGGACAGCCTCAGAGAGGTATAAGACACAGTCTTTATCATGA AAGAGCTGAGCACAGTTAACTATAAAAGCGAAGCACATGACATGTATCTT AGAAGGGCTCCTGTTAAGTACCACAGGAGGTCAGAGTAGGGATGTCAGGG CAAGCTACATGGAGGGCTGGCTTTTAGCTGGGCTTGGATGAATGCTTAGA ATGTGGACAAGTGGAGATTAGAGAAAAACAGGTCATTCCAGATGGAGAAA ACTTACCAGGAGCAAAGCAAGATAAGGCTCGGTGTATTTTTTCTATTTCA GGTAGAAATGTAAATCTACAAGTTGAGATCTATTGAGGTCATTTAAAAAT CTATCATTTTTCAGGCTGGGTACTGTGGCTCACGCCTGTAATCCCAGTAC TTTGGAAGGCCAAGGCTGGCAGATCACCTGAGGTCAGGATTTCGAGACCA GCCTGGCCAACATGGTGAAACCCCATCTCTATCAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00558.hp2 others(166): Show HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0049 a0001c0001t0051 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0018 a0001c0002t0022 a0001c0002t0024 a0001c0002t0027 a0001c0002t0034 a0001c0002t0042 a0001c0002t0054 a0001c0002t0068 a0001c0002t0073 a0001c0003t0001 a0001c0003t0031 a0001c0004t0048	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0029 others(166): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0219 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0064 a0001c0001t0002g0093 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0236 a0001c0001t0003g0008 a0001c0001t0003g0074 a0001c0001t0003g0108 a0001c0001t0003g0114 a0001c0001t0003g0184 a0001c0001t0003g0248 a0001c0001t0004g0019 a0001c0001t0004g0036 a0001c0001t0004g0065 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0004g0226 a0001c0001t0005g0206 a0001c0001t0006g0104 a0001c0001t0007g0134 a0001c0001t0007g0215 a0001c0001t0007g0239 a0001c0001t0008g0089 a0001c0001t0009g0166 a0001c0001t0009g0207 a0001c0001t0010g0020 a0001c0001t0010g0201 a0001c0001t0011g0059 a0001c0001t0011g0099 a0001c0001t0012g0062 a0001c0001t0012g0220 a0001c0001t0013g0066 a0001c0001t0015g0025 a0001c0001t0016g0039 a0001c0001t0016g0049 a0001c0001t0017g0185 a0001c0001t0019g0032 a0001c0001t0019g0088 a0001c0001t0020g0069 a0001c0001t0021g0161 a0001c0001t0023g0112 a0001c0001t0023g0113 a0001c0001t0024g0031 a0001c0001t0025g0256 a0001c0001t0026g0050 a0001c0001t0026g0097 a0001c0001t0029g0230 a0001c0001t0030g0098 a0001c0001t0033g0014 a0001c0001t0035g0189 a0001c0001t0037g0162 a0001c0001t0038g0145 a0001c0001t0039g0243 a0001c0001t0041g0157 a0001c0001t0045g0063 a0001c0001t0049g0030 a0001c0001t0051g0053 a0001c0001t0059g0055 a0001c0001t0061g0213 a0001c0001t0062g0159 a0001c0001t0064g0250 a0001c0001t0067g0197 a0001c0001t0070g0060 a0001c0001t0071g0109 a0001c0001t0072g0012 a0001c0001t0074g0238 a0001c0001t0075g0132 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0054 a0001c0002t0001g0068 a0001c0002t0001g0079 a0001c0002t0001g0086 a0001c0002t0001g0095 a0001c0002t0001g0111 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0179 a0001c0002t0001g0208 a0001c0002t0001g0255 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0127 a0001c0002t0002g0146 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0167 a0001c0002t0002g0177 a0001c0002t0002g0186 a0001c0002t0002g0190 a0001c0002t0002g0212 a0001c0002t0003g0105 a0001c0002t0004g0080 a0001c0002t0005g0042 a0001c0002t0006g0246 a0001c0002t0007g0128 a0001c0002t0013g0121 a0001c0002t0018g0044 a0001c0002t0018g0058 a0001c0002t0022g0046 a0001c0002t0024g0010 a0001c0002t0027g0231 a0001c0002t0027g0233 a0001c0002t0034g0194 a0001c0002t0042g0094 a0001c0002t0054g0001 a0001c0002t0068g0048 a0001c0002t0073g0002 a0001c0003t0001g0026 a0001c0003t0031g0141 a0001c0004t0048g0052	169	260	0.6500	-738	c.100 others(19): Show c.1009+3513_1009+4250del		ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	5/7						chr12	TogoVar
MICAL3_chr22_17782649_18029561	17876726	GTTAGGGA others(731): Show GTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTAT GGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA AGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT GAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGG AGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0020 a0002c0058t0020	a0002c0058t0020g0092 a0002c0058t0020g0092	1	272	0.0037	-738	c.224 others(19): Show c.2242-5441_2242-4704del		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar

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