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
CSNK1G2_chr19_1936172_1986338	1967759	CGACCACC others(562): Show CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCCTCCC CAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCC TCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGG CTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTC TGCAGGTGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCA GTTCTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCACCACCC TTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCC CCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGGCTGTCCCT GACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCTCCCC AGGCTGCCCCAGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCT CCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCC CTCCTCCCCAGGCTGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG01358.hp2 others(10): Show HG01081.hp1 HG01346.hp1 HG01358.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02293.hp1 NA18983.hp2 NA18990.hp2 NA19056.hp1 NA19060.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0001 a0002c0003t0003 a0001c0012t0001 a0002c0003t0003	a0001c0012t0001g0266 a0002c0003t0003g0007 a0002c0003t0003g0008 others(8): Show a0001c0012t0001g0266 a0002c0003t0003g0007 a0002c0003t0003g0008 a0002c0003t0003g0267 a0002c0003t0003g0268 a0002c0003t0003g0269 a0002c0003t0003g0270 a0002c0003t0003g0271 a0002c0003t0003g0273 a0002c0003t0003g0277 a0002c0003t0003g0300	13	345	0.0377	-569	c.-26 others(19): Show c.-265-1714_-265-1146del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
LHPP_chr10_124456823_124619141	124546293	GGGCCTGT others(562): Show GGGCCTGTGCTAGGCCTCTGGCGGGCCCTGGGTTGTTCCCTTCCTTATGA GCTCCCATTATTAACTAAAGAAGACACTGAATGATCTCATGTGGTTGTAT GTTTTTTTGTTTGTTTGTTTGTTTTTTTGAGACGGAGTCTCACTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCT CCTGGGTTCACACCATTCTCCTGCCTCACCCTCCCGAGTAGCTGGGACTA CAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTGTATTTTTA GTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGAC CTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTG AGCCACCGCGCCCGCCTCATGCGGTTGTATCTTGGTGGGTAAGGCAGGTC TTTCTATGACCCACCTGCCAGCCTCATCATCCGTGCTCCCCACCTCACCA TGCATGCTTCGGTTGCTGTTTGTCCACAGGCGTACTTACTTTGTTTTATA TCAGTTTTTAGATACAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	258	0.0039	-569	c.716 others(19): Show c.716+29023_716+29591del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6			chr10	TogoVar
NOC4L_chr12_132139457_132157468	132149224	CACACCAC others(562): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0006 a0007c0009t0001g0006	1	292	0.0034	-569	c.901 others(15): Show c.901+330_901+898del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(562): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01256.hp1 HG01361.hp2 others(7): Show HG01070.hp1 HG01256.hp1 HG01361.hp2 HG01496.hp1 HG01928.hp2 HG01981.hp2 HG02293.hp2 HG02300.hp2 HG02622.hp2 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0016 a0002c0002t0049 a0002c0002t0003 a0002c0002t0016 a0002c0002t0049	a0002c0002t0003g0001 a0002c0002t0003g0035 a0002c0002t0003g0036 others(6): Show a0002c0002t0003g0001 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0067 a0002c0002t0016g0075 a0002c0002t0016g0076 a0002c0002t0049g0066	10	319	0.0313	-569	c.462 others(14): Show c.462+93_462+661del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRDM15_chr21_41793225_41884344	41844563	CACACACA others(562): Show CACACACACAGCCCCTCCCCCCTCACAGGGACACATACAGCCCCTCCCCC TCACAGGGACACACAGCCCCTCCCCCCTCACAGAGACACACATACACAGT CCCTCCCCCCTCACAGGGACACACACAGCCCCTCCTCCATCACAGGGACA CACACACACACACACACACACACACACACAGAGTCCCTTCCCCCTCACAG GGACACACACAGTCCCTCCCCCCTCACAGGGACACACACAGTCCCTCCCC CCTCACAGGGACACACACAGCCCCTCCCCCCTCACAGGGACACACAGCCC CTCCCCCTCACAAGGACACACACAGCCCCTCCCCCTCACAGGGACACACA CAGCCTCTCCCCCCACACAGGGACACACAGCCCCTCCCCCCTCACAGGGA CACACACAGCCCCTCCCCCCTCACAGGGACACACAGCCCCTCCCCCCTCA CAGGGACACACACAGCCCCTCCCCCCTCGCAGGGACACACAGCCCCTCCC CCTCACAGGGACACACAGCCCCTCCCCCCTCACAGGGACACACACACACA GCCCCTCCCCCCTCACAGGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG02132.hp1 others(3): Show HG00639.hp1 HG00642.hp2 HG02132.hp1 HG03490.hp2 HG03492.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0013 a0001c0001t0014 a0001c0008t0001 a0001c0001t0013 a0001c0001t0014 a0001c0008t0001	a0001c0001t0013g0156 a0001c0001t0014g0154 a0001c0001t0014g0155 others(2): Show a0001c0001t0013g0156 a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0014g0157 a0001c0008t0001g0003	6	404	0.0149	-569	c.640 others(17): Show c.640+1958_640+2526del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
PRKG1_chr10_51069487_52303350	52109718	ACGCCACT others(562): Show ACGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCCATCTCAAAAA AAAATCTTATCTCAAAAATGACTTTATGTGTTAAAAACAATAACAACAAT AATAATAATATCACTGCCTTACATAGGTCATATATAGCAGTGTCAAAGAG CTTTACTTGACTTTGGATGGTGGTTCCTCATCTTCCCGGGCCATGTCCTG TATCACACCACTTCCCACTTCTCAATTCCCGAGCTGTGAGCCTTGACATT GTAAAGTCATTGTAACAGTGCAAAGATCAGGGTCATGATGTACCAGATGC TCACTGGGAAGGTGCTACTCAACACTCTTTAGAAGACCTGATTCTAGGCC GGGCGCCGTGGCTCACGCCTGTAGTAATCCTAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG CTTGCAGTGAGCGGAGATCG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18522.hp1 HG02896.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0029 a0001c0001t0005g0031 a0001c0001t0003g0029 a0001c0001t0005g0031	2	64	0.0313	-569	c.936 others(19): Show c.936-24101_936-23533del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
SNTG2_chr2_945849_1372613	1342275	TGCTCTGT others(562): Show TGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTT TTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTA GGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCT GGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAAT TTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTG TTCTGGGCACGCCTGGCCCA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0138 a0012c0019t0001g0138	1	150	0.0067	-569	c.148 others(21): Show c.1489-25052_1489-24484del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342468	CGCACTTT others(562): Show CGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGG CACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTT CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTG	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0190 a0003c0008t0001g0190	1	180	0.0056	-569	c.148 others(21): Show c.1489-24862_1489-24294del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342704	CCCCCTGT others(562): Show CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGT TCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCAC TGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGC ACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGG CAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGG AAGAGTGGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18943.hp1 NA18961.hp2 others(2): Show HG00673.hp1 NA18943.hp1 NA18961.hp2 NA18968.hp1 NA18984.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0010 a0001c0001 a0001c0002 a0006c0010	a0001c0001t0001 a0001c0002t0001 a0006c0010t0001 a0001c0001t0001 a0001c0002t0001 a0006c0010t0001	a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0002t0001g0031 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0002t0001g0031 a0001c0002t0001g0123 a0006c0010t0001g0165	5	184	0.0272	-569	c.148 others(21): Show c.1489-24597_1489-24029del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
THBS3_chr1_155190588_155212897	155190614	CGGCCTGG others(562): Show CGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGG AGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGG GGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACC GTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCG AGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTG TCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAA CTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGA GGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGT CCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCC GGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGA GCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGG GGGCGGTGGAGCCCGGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA20129.hp1 NA19084.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	296	0.0068	-569	c.46 others(11): Show c.4658_*5226del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4973		chr1	TogoVar
TSPAN7_chrX_38556542_38693918	38572624	TCAGTTCA others(562): Show TCAGTTCATTGTTCTAATCACTCCATAAATACTTGATTGTTTATGATTTC CAGGGATTAGACTAGGACTTCCCAAAGGTAGACCCCTTTGGGGTTGAAAA GGAACCCAAAGCTTGATAAGACTGTGGAAAATGTTGCTAAACATCCCTTC TACATCCCCATCTCTATTTGAGTTAAAGTTCTGTTTCTGGTGAAGCTTTT GCGGACTTCTAGCTCCTCCAGATTTCTGTTTCATATTTTGAACTGTATCA CTCACTTGATATTCTTTTAACCATTGCATTCTATTGCAGAGGATTTAAAA TTAGACTTAATGTGAAGTCTCGGCTAGTACCTTTGCTGTGTGACCTTAGG CAAATCACTTATTCTCTCTGAGCCCCAGTTTCCTCTTTAGAATTGAGGAT ATCTATGATTACCCACCTCAGTCAAGTGTTGAGGGTCAAATAACATTCAA GTGCATTATAAACTAAAGTGTGATACATATATATTTTGGAAACATTATTC CTTAGGGTGTAAAGTGTTTCTTTCCTAGTTTCTTGTACATGGGAGGTACT GTATCAATACTTGTTAAATG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	221	0.0045	-569	c.81+ others(17): Show c.81+10998_81+11566del	TSPAN7	ENSG00000156298.13	transcript	ENST00000378482.7	protein_coding	1/7			chrX	TogoVar
CA5A_chr16_87883013_87941529	87898838	GATTCTCC others(561): Show GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTGTGCCA CGATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATG TTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTATTCACCTCA GTCTCCCTAAGTGCTGGGGTTACATGTGTGAGCCACCATACCTGGGCTAC TGTGGATGTTTAATATCTCCATTTCACAGGCGAGGAAGCTGAGGCTCAGA GGTGCGCAGCTCAGGAGTGGTGGATCTGGGCTCTGAACCCAGGAGTCCAA CTGTGGGGCTCTCTGATACACTGTGCTATGGGAGAAGCTCCCAGAAGTCC TAGGCTAGGAGCCTCTAGGCGAGAGAGTTGTTCAAGTCTCTTCCCATTCC CTGGCCCATGAAGCACAGACTCTTGCTCCCAAGGCTGGGCCTTTTACCTC CTAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAGTCTCGCTG TGTCACTCGGCCTGGAGTGTAGTGGCACAATCTGAGCTCACTGCAACCTC CACCGCCCAGATTCAAGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18955.hp2 NA19074.hp2 HG00438.hp2 NA18955.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0173 a0001c0002t0002g0210 a0001c0002t0002g0149 a0001c0002t0002g0173 a0001c0002t0002g0210	3	398	0.0075	-568	c.618 others(17): Show c.618+2506_618+3073del	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
DCC_chr18_52335197_53540899	53085988	TCTCCTTC others(561): Show TCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTT TCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCT TCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTT CTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTC TTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCT TCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTT CTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTC TTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTC TTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp2 HG02486.hp2 others(2): Show HG00738.hp2 HG01106.hp2 HG02486.hp2 HG03017.hp2 HG03831.hp2	a0002 a0008 a0002 a0008	a0002c0001 a0002c0004 a0002c0013 others(1): Show a0002c0001 a0002c0004 a0002c0013 a0008c0017	a0002c0001t0018 a0002c0004t0003 a0002c0013t0001 others(1): Show a0002c0001t0018 a0002c0004t0003 a0002c0013t0001 a0008c0017t0004	a0002c0001t0018g0034 a0002c0004t0003g0012 a0002c0004t0003g0023 others(2): Show a0002c0001t0018g0034 a0002c0004t0003g0012 a0002c0004t0003g0023 a0002c0013t0001g0068 a0008c0017t0004g0110	5	104	0.0481	-568	c.126 others(21): Show c.1261+19825_1261+20392del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
FAT1_chr4_186582794_186728856	186626223	AGAATGAA others(561): Show AGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCACATAA AGTGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCA ACATGGCACCTGGCACATAAAGTGAGCTTCATCAGCCTACAGAATGAATG AATGAATGAATGAGGGACCAACATGGCACCTGGCACATAAAGCGAGCTTC ATCAGCCTACAGAATGAATGAATGAATGAATGAGGGACCAACATGGCACC TCGCACATAAACTGAGCTTCATCAGCCTACAGAATGAATGAATGAATGAA TGAGGGACCAACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCCAC AGAATGAATGCATGAATGAATGAATGAGGGACCAACATGGCACCTGGCAC ATAAAGTGAGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAGGG ACCAACATGGCACCTCGCACATAAAGTGAGCTTCATCAGCCCACAGAATG AATGAATGAATGAATGAGGGACCAACATGGCACCTGACACATAAAGTGAG CTTCACCAGCCCACAGAAT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0034 a0025c0025t0034	a0025c0025t0034g0290 a0025c0025t0034g0290	1	331	0.0030	-568	c.481 others(19): Show c.4810+1363_4810+1930del	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
FKRP_chr19_46741057_46763575	46754258	GAACTCCT others(561): Show GAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGG GATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTC TTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATT TTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCAT CTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCT TGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCC ACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTAT TTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGA GTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAA GCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCC CTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGT GTTGGCCAGGCTGGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp2 HG02258.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0036 a0001c0003t0007g0036	2	428	0.0047	-568	c.-39 others(16): Show c.-39-1145_-39-578del	FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ISY1_chr3_129122415_129166063	129155359	TAATATTT others(561): Show TAATATTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGAT AGTCTCTTATCTCCTAACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGTGTGAGCCACCGCACCAGGCCAGTGCTATACATTTT TATCTAAGCACTATATCCCATAAATTTTTTCATCCCCTAAATTTTGACAT TACGTTTTCACTCTAATTAAATTCAAAATATCTTCTAATTTCTTTGCTGT TTCCTCTCAGACACATGAATTATTTACAAATATGTTGTTTAATTTCCAAA TATTTAGGAATTTTTCAGATATGAATCTGTTGTTATAATCAGAGAAAATA CTCTGTGTAATTTCAATTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTG TTGCTGAAGCTGGAATGCAATAGTGTGATCTTGGCTCACTGTAACCTCCG CCCGTTAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA TTACAAGCATGCGCTACCACGTCCAGCCAATTTTGTATTTTCAGTAGAGG TGGGGTTTCTCCATGTTGG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	364	0.0027	-568	c.187 others(16): Show c.187+706_187+1273del	ISY1	ENSG00000240682.10	transcript	ENST00000393295.8	protein_coding	5/10			chr3	TogoVar
NEU4_chr2_241804193_241822413	241819462	CTCATGCG others(561): Show CTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCATGTGCTGGGT GCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTTGCGT GCTGGGTGCATCCTGTCGTGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGT CGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCCTCGTGGTGTGTG TGTAGGTTGTGTGCTGGGTGCATCCTCTCATGCATGTGTCCTGGCTCATG GCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTG CCTCGTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCATCCTCTCATGCATG TGTCCTGGCTCATGGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTC ATGCGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGTGTGCTGGGTGCA TCCTCTCATGCGTGTGTCCTGGCTCGTGGCCTGTGTGTAGGTCGTGTGCT GGGTGCATCCTGTCATGCGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTT GTGTGCTGGGTGCATCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0170 a0002c0003t0002g0170	1	311	0.0032	-568	c.24 others(11): Show c.2415_*2982del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2050		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149500	CTAATCCC others(561): Show CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	291	0.0034	-568	c.901 others(15): Show c.901+606_902-913del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
PACS1_chr11_66065272_66249744	66116631	GCCTGTAA others(561): Show GCCTGTAATCCCAGCACTTTGGCTGAGGCAGGTGGATTACTTGAGCTCAG GAGTTCAAGACCAGCCTGGGCAACATGTTGAAATCACATCTCTACCAAAA ATACAAGATATTAGCCAGGCGTGGTGGTGTGTGTCTGTGGTCCCAGCTAC TCATAAGACTGGGGTGAGAGGATCACTTGAGCCTGGGAGGTGGAGTTTGC AGTGAGCTAAGATCGTGCAACTGCACTCCAGCCTGGGTGACCAAGTGAGA CTCCATCTCAAAAACAAAAAAAAAAACAACTCAGATTCTAGTTGGGGAGA CATATACTAAATAAGATAACACAAATAAAGGGCAGTATATAGTGAATTCA GTAGGGACAAATGCTGGGTAGAAAAAACTAAGCAGGGGAAGAAGACAGGA AGTGTCAGGAGTAGTACTGTGGCTTTATTATTATAAATTGTTTCCTTTTA AAAACGATGTGTATTATGCATTAAAGCATTGCTCTGAGAAGGGGTCCTCT GACTTCTCCAGACTGCCAAAGGGACCCTGGCATTGAAAGGGTTAAGGAGG CTGGGCGCAGTGGTTCACA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03579.hp1 NA18522.hp1 HG02615.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0310 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0001g0310 a0001c0001t0005g0205 a0001c0001t0005g0206	3	320	0.0094	-568	c.356 others(19): Show c.356+45811_356+46378del	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PCGF3_chr4_700832_775089	745127	GCCGTGGA others(561): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02004.hp2 HG02165.hp1 others(1): Show HG01928.hp1 HG02004.hp2 HG02165.hp1 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0003 a0002c0002t0048 a0001c0001t0014 a0002c0002t0003 a0002c0002t0048	a0001c0001t0014g0061 a0002c0002t0003g0013 a0002c0002t0003g0072 others(1): Show a0001c0001t0014g0061 a0002c0002t0003g0013 a0002c0002t0003g0072 a0002c0002t0048g0021	4	353	0.0113	-568	c.462 others(16): Show c.462+475_462+1042del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745610	CCCGGGGG others(561): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGG CGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp1 NA18980.hp1 HG00609.hp1 HG02040.hp1 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0005 a0002c0002t0003 a0001c0003t0005 a0002c0002t0003	a0001c0003t0005g0140 a0002c0002t0003g0024 a0002c0002t0003g0070 a0001c0003t0005g0140 a0002c0002t0003g0024 a0002c0002t0003g0070	3	362	0.0083	-568	c.462 others(16): Show c.462+925_462+1492del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745952	CCCCGGGG others(561): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(24): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00735.hp1 HG01433.hp2 HG01517.hp2 HG02027.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18942.hp1 NA18950.hp1 NA18951.hp2 NA18983.hp2 NA19000.hp2 NA19011.hp2 NA19012.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0057 a0001c0003t0005 a0002c0002t0002	a0001c0001t0001g0158 a0001c0001t0002g0148 a0001c0001t0002g0151 others(24): Show a0001c0001t0001g0158 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0247 a0001c0001t0002g0320 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0340 a0001c0001t0002g0351 a0001c0001t0003g0162 a0001c0001t0008g0179 a0001c0001t0008g0345 a0001c0001t0009g0327 a0001c0001t0009g0341 a0001c0001t0057g0346 a0001c0003t0005g0322 a0001c0003t0005g0325 a0002c0002t0002g0323	27	362	0.0746	-568	c.462 others(17): Show c.462+1349_462+1916del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746094	TCCGTGGA others(561): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	307	0.0033	-568	c.462 others(17): Show c.462+1463_462+2030del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLD5_chr1_242077986_242529697	242393766	AAGTATTT others(561): Show AAGTATTTTTAGGCAGGGCCGCAGTGGCTCACGCCTGTATTCTCAGCACT TTGGGAGGCCGAGGCGGGTGGATTACCTGAAGTCAGGAGTTCGAGACCAG CCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTAGC TGGGTGTGGGGGTGCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCACTTGAACCCGGAAGGCGGAGGTTGCAGTGAGCTGAGATCA CGCCACTGAACTCCAGCCTGGATAAGACGACGACTCCATCTCAAAAAAAA ACATATATATATATGAGTATATATATGTATATATGTGTATATATATGAGT ATATATATGTGTATATATATGAGTATATATATGTGTATATATATGAGTAT ATATATGTGTATATATGAGTATATATGAGTATATATATGTGTATATGAGT ATATATATGTGTATATATATGAGTATATATATGTGTATATATATGAGTAT GAGTATATATATGTGTATATATATGAGTATATATATGAGTATATATGTGT GTATATATGAGTATATATG	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0015 a0001c0001t0018g0015	1	186	0.0054	-568	c.190 others(19): Show c.190-46092_190-45525del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PTGR1_chr9_111557567_111604647	111571017	GCTAGAAG others(561): Show GCTAGAAGCTTGAAAAGGCAAGGAAGCAGATTCTCCTCTAGCATCTTCAG AAGGAATGCAGCCCTGCCAACCCATTTTACTTTTAACCTCTAGACCTACA AGAATAAGTGTGTGGGGTCGGGTGCGTGGCTCATGCCTATAATCCAGCAT TTTGGGAGGCCGAGGCAGGCAGATCACTTGAAGTCAGGAGTTTGAGAGCA GCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAG CTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGG CAGGAGAATCGCTTGAAGTCGGAAGGGGACTGCAGTGAGCTGAGATTGCA CCACTCCACTCCAGCCTGGGTGACAGAGCGAGACTCGGTTTCAAAAAGAA AAAAAGAAGTAAACAAACAAAAGAATAAACATGTGGGTGTTTTTGTGTCT GTGTGTTTTGTGGTTGTCGTTTTTAATTTGAGACAGGGTCTGGCTCTGTT TCCCCAGGCTGGAGTAAAGTGGTGCCATCACTGCTCAATGCAGCCTTGAC CTCTTGGCTCAAGTGATCT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00558.hp1 others(65): Show HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02135.hp2 HG03239.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0002	a0001c0001t0001g0280 a0001c0001t0002g0029 a0001c0001t0002g0031 others(60): Show a0001c0001t0001g0280 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0113 a0001c0001t0002g0248 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0301 a0001c0001t0002g0320 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0335 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0001t0003g0047 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0278 a0001c0001t0003g0282 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0302 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0003g0022 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0146 a0002c0002t0003g0177 a0002c0002t0003g0214 a0002c0002t0004g0135 a0002c0002t0004g0163 a0002c0002t0004g0164 a0002c0002t0004g0165 a0002c0002t0004g0205 a0003c0003t0002g0030	68	406	0.1675	-568	c.761 others(16): Show c.761-1376_761-809del	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding	8/9			chr9	TogoVar
SLC12A7_chr5_1045384_1117063	1048087	GGGGTGTG others(561): Show GGGGTGTGTGAACGAATGGGCGAGTTTGTGAATGGGTGTGTGAATGAGTG GATGAGTTGTGTGAATGGGTGTGTGAACGAGTGGGTGAGTGTGTGAATGA GTGGGTTAGTGTGTGAATGAGGGATTTAGTGTGAGTGGGTGTGTGAACGA GTGGGTTTGTGAATGAGCGGGTGTGTGTGAATGAGTGGGTGAGTTGGTGT GTGAATGAGTGGGTTAGTGCGTGAATGAGTGGGTGGGTTAGTGTGTGAAT GAGTGGGTGTGTGAACGAGTGGGCGAGTTTGTGAATGGGTGTGTGAACGA GTGGGTTAGTGTGTGAATGGGTTAGTGAATGGGCTAGTGTGTGTCAGTGG GTTAATGTGTGAATGAGTTGGTGAATGTGTGAACGAGTGGGCGTTAGTGT GTGAATGAGGGTGTGTGAACGAGTGGGTGGGTTAGTGAATGAGTGTGCGA ATGAGTGGGTAAGTGTGTGAATGAGTGGGTGAGTTAGTGTATGAGTGGGC AAGTTAGTGTGTGAATGGGTGGGTGAGTTGAGTGGGTGTGTGAACAAGTG GGTTAGTGTGTGAATGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02055.hp1 others(14): Show HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02486.hp2 HG02723.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18954.hp2 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0013 a0001c0014 others(3): Show a0001c0003 a0001c0013 a0001c0014 a0001c0031 a0002c0012 a0005c0037	a0001c0003t0003 a0001c0003t0017 a0001c0013t0003 others(5): Show a0001c0003t0003 a0001c0003t0017 a0001c0013t0003 a0001c0014t0003 a0001c0031t0003 a0002c0012t0003 a0002c0012t0024 a0005c0037t0003	a0001c0003t0003g0002 a0001c0003t0003g0003 a0001c0003t0003g0005 others(14): Show a0001c0003t0003g0002 a0001c0003t0003g0003 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0003t0003g0014 a0001c0003t0003g0019 a0001c0003t0003g0071 a0001c0003t0017g0018 a0001c0013t0003g0046 a0001c0013t0003g0047 a0001c0014t0003g0058 a0001c0014t0003g0059 a0001c0031t0003g0007 a0002c0012t0003g0073 a0002c0012t0003g0075 a0002c0012t0024g0074 a0005c0037t0003g0008	17	118	0.1441	-568	c.37 others(11): Show c.3705_*4272del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		2296		chr5	TogoVar
ADARB2_chr10_1172313_1742525	1235661	CCCCTCTC others(560): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGC CCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACC ATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTAT CTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCA TACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTG TGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACC AGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATC CAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGA ATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGC AGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCAT TTCCTTCTTCGGTGTTTA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19011.hp2 HG02145.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0008 a0002c0002t0004 a0002c0002t0008	a0002c0002t0004g0088 a0002c0002t0008g0042 a0002c0002t0004g0088 a0002c0002t0008g0042	2	104	0.0192	-567	c.136 others(19): Show c.1362-2383_1362-1817del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235669	CCTCCCGG others(560): Show CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGTGTCC TGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGCCCCCCAAA GAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACCATGATCTT TTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTATCTGTCTAC ACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCATACCTCAC AGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTA AAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGG TGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATG ACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTG CCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCAC CTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCT TCGGTGTTTACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	102	0.0098	-567	c.136 others(19): Show c.1362-2391_1362-1825del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
EHHADH_chr3_185185624_185259049	185230540	CTAAACAA others(560): Show CTAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTT TATATGAAATATCCAGAATAGGCAAAACATGCTAAACAAAAAAAGCCAGT CACAGGAGACCACATATCGTATGATTCTGTTTATATGAAATATCCAGAAT AGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCA TATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACA AAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGA AATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGA GACCACATATCGTATGATTCTGTTTATATGAAATATCCAGAATAGGCAAA ACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATT CTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAG CCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGAAATATCC AGAATAGGCAAAACATGA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	341	0.0029	-567	c.352 others(16): Show c.352-1564_352-998del	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185230658	GTATGATT others(560): Show GTATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAAC AAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATG AAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGG AGACCACATATCATATGATTCTGTTTATATGAAATATCCAGAATAGGCAA AACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCGTATGAT TCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAA GCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGAAATATC CAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCAC ATATCATATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGA TAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTT ATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTC ACAGGAGACCACATATCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01109.hp2 others(32): Show HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG04199.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0015	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0002c0021 a0005c0006 a0006c0007 a0015c0020	a0001c0001t0003 a0002c0002t0002 a0002c0002t0007 others(7): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0007 a0002c0004t0003 a0002c0004t0005 a0002c0004t0006 a0002c0021t0003 a0005c0006t0001 a0006c0007t0003 a0015c0020t0003	a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 others(32): Show a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0002c0002t0002g0261 a0002c0002t0007g0286 a0002c0004t0003g0149 a0002c0004t0003g0271 a0002c0004t0003g0272 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0281 a0002c0004t0003g0282 a0002c0004t0003g0288 a0002c0004t0003g0291 a0002c0004t0003g0296 a0002c0004t0003g0297 a0002c0004t0003g0298 a0002c0004t0003g0300 a0002c0004t0003g0301 a0002c0004t0003g0303 a0002c0004t0005g0138 a0002c0004t0005g0287 a0002c0004t0005g0289 a0002c0004t0005g0290 a0002c0004t0005g0302 a0002c0004t0006g0293 a0002c0004t0006g0299 a0002c0021t0003g0292 a0005c0006t0001g0294 a0005c0006t0001g0295 a0006c0007t0003g0275 a0006c0007t0003g0276 a0006c0007t0003g0277 a0006c0007t0003g0278 a0015c0020t0003g0146	35	214	0.1636	-567	c.352 others(17): Show c.352-1682_352-1116del	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185231107	ATAAACAA others(560): Show ATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTT TATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGT CACAGGAGACCACATATCATATGATTCTGTTTATATGAAATATCCAGAAT AGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCA TATGATTCTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACA AAAAAAGCCAGTCACAGGAGACCACATATCATATGATTCTGTTTATATGA AATATCCAGAATAGGCAAAACATGATAAACAAAAAAAGCCAGTCACAGGA GACCACATATCATATGATTCTGTTTATATGAAATATCCAGAATAGGCAAA ACATGATAAACAAAAAAAGCCAGTCACAGGAGACCACATATCATATGATT CTGTTTATATGAAATATCCAGAATAGGCAAAACATGATAAACAAAAAAAG CCAGTCACAGGAGACCACATATCGTATGATTCTGTTTATATGAAATATCC AGAATAGGCAAAACATGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00741.hp2 others(29): Show HG00140.hp1 HG00597.hp2 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01255.hp1 HG01496.hp1 HG01934.hp1 HG01981.hp2 HG02056.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG03017.hp2 HG03688.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18993.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0305 a0001c0001t0001g0324 a0002c0002t0002g0002 others(25): Show a0001c0001t0001g0305 a0001c0001t0001g0324 a0002c0002t0002g0002 a0002c0002t0002g0014 a0002c0002t0002g0035 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0304 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0326	32	346	0.0925	-567	c.352 others(17): Show c.352-2131_352-1565del	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	3/6			chr3	TogoVar
EVA1C_chr21_32407706_32520387	32470884	GAGTAGCT others(560): Show GAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTGATTTTTGTA TTTTTAGTAGAGACGGGGTTGCACTGTGTTGGCCAGGCTGGTCTCAAACT CCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCACAGTACTGGGATTA CAGGCGTGAGCCACTGCACCCGGCCCAGGTAGCTTTCTTAAAGGCAAATC TGTCACTAACCCTTCCTAACACCCTGCAGGGGCTCCCTGTATTATATGGT TCCTTAGCTGGATGAGGGACCCTTGGTGTTTTAACTTCTTCCTGCAAAAA GGGGCTTCACTTTTTTTTTCTTTAATTCTTAACCTTTATAATATTCAAGA ATGCCTTTCCAGAACAGGGATTGTGCAAGGCATTGTGGATCTACGTCTTC TTTACGGGCTCTGTGTTCCCCTACTCCCACTCCTTTTTTTCTTTTTTCTT TTTTTTTTTTTGAGACAGAGTCTCCGTCTGTCACCCAGGCTGGAGTGCAG TGGCACGATCTCGGCTCACTGCAACCTCCACCTCTGGGTTCAAGCAATTC TCCTGCCTCAGCCTCCCA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	344	0.0029	-567	c.634 others(17): Show c.634+3053_634+3619del	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
FOXN3_chr14_89151177_89422233	89362104	AGCACCAC others(560): Show AGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTC CACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCA CCTCCAGCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGC ACCACCACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCACCAC CACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCA CCTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACC ACCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAG CTCCACCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCA CCACCACCACCACCATCTCTACGACCACCACCACCACCATCTCCACCACC ACCTCCACCACCACCACCACCACCATCTCTACGACCACCACCACCACCAC CATCTCTACGACCACCACCACCTCCACCACCATCTCCACCACCACCACCA CCATCTCCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0033 a0001c0001t0011g0033	1	223	0.0045	-567	c.544 others(19): Show c.544-11863_544-11297del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
LYPD8_chr1_248734415_248760759	248746588	CGCACGGC others(560): Show CGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACC CAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGG CCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCA TCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG CACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCC CCGCACGGCCAGCACCCACCCAGGGCATCACCCGCACGGCCAGCACCCAC CCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACG GCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACC CAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGG CCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCA TCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAC CCACCCAGGGCATCGCCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03579.hp1 NA18950.hp1 others(4): Show HG01934.hp2 HG03579.hp1 NA18950.hp1 NA18952.hp1 NA18990.hp1 NA19012.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0020 a0001c0001t0001g0094 a0001c0001t0001g0175 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0094 a0001c0001t0001g0175 a0001c0001t0002g0044 a0001c0001t0006g0059	7	372	0.0188	-567	c.337 others(17): Show c.337+1134_338-1310del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
NOC4L_chr12_132139457_132157468	132149529	ACTCACAC others(560): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	175	0.0057	-567	c.901 others(15): Show c.901+678_902-842del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149573	ACTCACAC others(560): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	169	0.0059	-567	c.901 others(15): Show c.901+766_902-754del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	746009	CCCGGGGG others(560): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19240.hp1 HG02145.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0056 a0001c0001t0002 a0002c0002t0056	a0001c0001t0002g0337 a0002c0002t0056g0339 a0001c0001t0002g0337 a0002c0002t0056g0339	2	353	0.0057	-567	c.462 others(17): Show c.462+1324_462+1890del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746465	CCCGGGGT others(560): Show CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01928.hp1 HG02074.hp1 others(4): Show HG00609.hp1 HG01928.hp1 HG02074.hp1 HG02132.hp1 HG02165.hp1 NA18948.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0035 a0002c0002t0003 others(1): Show a0001c0001t0003 a0001c0001t0035 a0002c0002t0003 a0002c0002t0048	a0001c0001t0003g0017 a0001c0001t0035g0020 a0002c0002t0003g0013 others(4): Show a0001c0001t0003g0017 a0001c0001t0035g0020 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0024 a0002c0002t0003g0072 a0002c0002t0048g0021	7	362	0.0193	-567	c.462 others(17): Show c.462+1780_462+2346del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRDM15_chr21_41793225_41884344	41844565	CACACACA others(560): Show CACACACAGCCCCTCCCCCCTCACAGGGACACATACAGCCCCTCCCCCTC ACAGGGACACACAGCCCCTCCCCCCTCACAGAGACACACATACACAGTCC CTCCCCCCTCACAGGGACACACACAGCCCCTCCTCCATCACAGGGACACA CACACACACACACACACACACACACACAGAGTCCCTTCCCCCTCACAGGG ACACACACAGTCCCTCCCCCCTCACAGGGACACACACAGTCCCTCCCCCC TCACAGGGACACACACAGCCCCTCCCCCCTCACAGGGACACACAGCCCCT CCCCCTCACAAGGACACACACAGCCCCTCCCCCTCACAGGGACACACACA GCCTCTCCCCCCACACAGGGACACACAGCCCCTCCCCCCTCACAGGGACA CACACAGCCCCTCCCCCCTCACAGGGACACACAGCCCCTCCCCCCTCACA GGGACACACACAGCCCCTCCCCCCTCGCAGGGACACACAGCCCCTCCCCC TCACAGGGACACACAGCCCCTCCCCCCTCACAGGGACACACACACACAGC CCCTCCCCCCTCACAGGG	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04115.hp2 HG03927.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0014 a0001c0019t0002 a0001c0001t0014 a0001c0019t0002	a0001c0001t0014g0158 a0001c0019t0002g0161 a0001c0001t0014g0158 a0001c0019t0002g0161	2	404	0.0050	-567	c.640 others(17): Show c.640+1958_640+2524del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
SNTG2_chr2_945849_1372613	1344624	GGCACTTT others(560): Show GGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp2 HG01891.hp2 HG03453.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0016 a0001c0002 a0007c0016	a0001c0002t0001 a0007c0016t0001 a0001c0002t0001 a0007c0016t0001	a0001c0002t0001g0041 a0007c0016t0001g0005 a0001c0002t0001g0041 a0007c0016t0001g0005	2	95	0.0211	-567	c.148 others(21): Show c.1489-22706_1489-22140del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOX5_chr12_23524504_23954670	23786587	TTTGTAGG others(560): Show TTTGTAGGAGATCAGTGTTCCTACTGTATCAATCACGTATTATTTTTCTA GAAGAAATTGTAACAATAGCGTAGGTATGCAACTATAACATCAAAGTATG ACAAATCCACAAATGAGATACATTTGAAAGCCAAGTATTATAACATTTAC TGTCTCTGAATTTTTATTAATATTTGCCTGACCCATTCTTGATTTGACTT GTATCAGCTAGGCAATGACCAGCATCACTGATTTTGGAGAAAAGTTATAA AACAAAAACTTAAAATTATGCAAATAATATCTATTAACATGTTTTTTTCT TTTTCTGAATTAGTTAAGGTTCCTGTTTCGAGTTTTGTAGTGAGTGAAAT GAAAAGTTTACTGTGATCACAGTTGGAGAACTATTGATATTACCCACATA GTTGCTGTAAGCCAGAACAAAAAAGGTCAGAGGAGATTATTTTCTTCCAT AAGCACTCTGCCAACAATAAACAGCTTTAGATAATTCACAGAACTTCTTT TGATCTTAGATGGAGGAAGGAGTAGAGTATGCATTAGAACCACATAATTT CTATACATCTTCAAATTG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00735.hp1 others(31): Show HG00597.hp2 HG00609.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01258.hp1 HG01261.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18973.hp1 NA18994.hp1 NA19010.hp2 NA19072.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0059 a0001c0001t0071 a0001c0001t0073 a0001c0001t0076 a0001c0001t0087 a0001c0001t0093 a0001c0001t0100 a0001c0001t0105 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0002t0005 a0001c0002t0048 a0001c0003t0088 a0001c0004t0047 a0001c0006t0007	a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0003g0086 others(31): Show a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0012g0109 a0001c0001t0012g0111 a0001c0001t0014g0097 a0001c0001t0014g0110 a0001c0001t0015g0102 a0001c0001t0020g0094 a0001c0001t0021g0139 a0001c0001t0022g0176 a0001c0001t0024g0078 a0001c0001t0027g0106 a0001c0001t0036g0112 a0001c0001t0038g0168 a0001c0001t0040g0046 a0001c0001t0059g0160 a0001c0001t0071g0014 a0001c0001t0073g0189 a0001c0001t0076g0163 a0001c0001t0087g0188 a0001c0001t0093g0192 a0001c0001t0100g0096 a0001c0001t0105g0063 a0001c0001t0117g0083 a0001c0001t0118g0007 a0001c0001t0120g0107 a0001c0001t0121g0186 a0001c0002t0005g0101 a0001c0002t0048g0113 a0001c0003t0088g0032 a0001c0004t0047g0190 a0001c0006t0007g0115	34	210	0.1619	-567	c.482 others(19): Show c.482-31430_482-30864del	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SP140L_chr2_230322193_230408732	230343095	CAACTTTT others(560): Show CAACTTTTAAGTTCAGGGGTACATGTGCAGGATGTGCAGGTTTGTTACAT AGGTAAACATGTGCCATGGTGTTTGTTGCACAGATCATCCTAGGTATTAA GCCCAACATCCATTAGCTATTCTTCCTGATGCTGTCCCTCTCCCTACACC CCCGACAGGTGCCCAGAGTGTGTTGTTCCTCCCATGTGTTCATGTGTTCT CAACATTCCGCTCCCACTTATAAGTTAGAACATGTGGTGTTTGGTTTTCT GTTCCTGAATTAGTTTGCTGAGGATAATGACTTCCAATTCCATCCATGTC CCTGCAAAGGACATGATCTTGTTCCTATTTATGGGTGCATAGTATTCCAT GGTGTATGTGTACCACATTTTCTTTATCCAGTCTATCATTGATGGGCATT TAGGTGGATTACATGTTTTTGCTATTGTGAATAGTGCTGCAATGAGCATA CATGTGGTTGTATCTTTATAATAGAATGATTTATATTCCTTTGGGTATAT ATCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTGCCTCTAGGTCTC TGAGGAATTGCCACACTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(37): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01167.hp1 HG01255.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01993.hp1 HG02015.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02970.hp1 HG03098.hp2 HG03486.hp2 HG03669.hp2 HG04115.hp1 NA18939.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18978.hp1 NA18982.hp2 NA18994.hp2 NA19003.hp1 NA19058.hp2 NA19062.hp2 NA19240.hp2 NA20752.hp1	a0002 a0004 a0005 others(3): Show a0002 a0004 a0005 a0006 a0007 a0013	a0002c0024 a0002c0025 a0004c0005 others(6): Show a0002c0024 a0002c0025 a0004c0005 a0005c0007 a0005c0008 a0005c0026 a0006c0009 a0007c0012 a0013c0023	a0002c0024t0001 a0002c0025t0001 a0004c0005t0001 others(6): Show a0002c0024t0001 a0002c0025t0001 a0004c0005t0001 a0005c0007t0002 a0005c0008t0001 a0005c0026t0002 a0006c0009t0001 a0007c0012t0001 a0013c0023t0001	a0002c0024t0001g0083 a0002c0025t0001g0087 a0004c0005t0001g0081 others(37): Show a0002c0024t0001g0083 a0002c0025t0001g0087 a0004c0005t0001g0081 a0004c0005t0001g0082 a0004c0005t0001g0086 a0004c0005t0001g0088 a0004c0005t0001g0089 a0004c0005t0001g0090 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0099 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0107 a0004c0005t0001g0110 a0004c0005t0001g0113 a0004c0005t0001g0169 a0004c0005t0001g0170 a0005c0007t0002g0093 a0005c0007t0002g0095 a0005c0007t0002g0108 a0005c0007t0002g0109 a0005c0007t0002g0111 a0005c0007t0002g0112 a0005c0008t0001g0084 a0005c0008t0001g0085 a0005c0008t0001g0091 a0005c0008t0001g0094 a0005c0008t0001g0104 a0005c0026t0002g0100 a0006c0009t0001g0092 a0006c0009t0001g0105 a0006c0009t0001g0106 a0006c0009t0001g0114 a0006c0009t0001g0171 a0007c0012t0001g0029 a0007c0012t0001g0030 a0007c0012t0001g0031 a0013c0023t0001g0098	40	334	0.1198	-567	c.107 others(19): Show c.107+14265_108-14143del	SP140L	ENSG00000185404.17	transcript	ENST00000415673.7	protein_coding	2/18			chr2	TogoVar
C2CD3_chr11_74007718_74176002	74050711	GTTTGGAC others(559): Show GTTTGGACAGCTTGCTGTCCTTTAGACTGGAACCTAGCTAAACGGTGAGA AAAGGTATTACACTATGTTCCCTACACTCTCCATACCTGGCATAACATCT TCCTGCATGAAAAACTTGATAAATATTCACTGAAAGCACAAGTAAACTGG CCAACCTAGAGTGGGACAAAGGAGCAGTGTGCCACAATAGCAAATCTAGG TATGGCTTTGACTGGAAAACATATTCCTCTAACTCCCTGAGCCTCAGTCA CACACATATAATGAGAAGTACTGAACCAGATTCAAGATCCCCTTTGGTTG AGCAGGTGGCTCATGCGTGTAACCCCAGCACTTTGGGAGGTTGAGGAGGG AGGATTGCTTAAGGCCAAGAGTTCGAGACCAGTCTGTGCAACATAACATG ACCCCATCTCTAAAAAAAACAAAACAAAACAAAAAATTTGTGGGGTATAG TGGTGCATGTCTGTAGTCCCAGCTACTTGGAAGGCTGAGGTGGGAGGACT GCTTGAGCTCAGGAGTTCACAGCTGCAGTGAGCATAATCCTACCACTGCA CTCCGGCCTGGGAAACA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02965.hp1 others(7): Show HG02145.hp2 HG02717.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03540.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0007 a0011 a0026 a0007 a0011 a0026	a0007c0009 a0011c0018 a0026c0047 a0007c0009 a0011c0018 a0026c0047	a0007c0009t0002 a0011c0018t0001 a0026c0047t0002 a0007c0009t0002 a0011c0018t0001 a0026c0047t0002	a0007c0009t0002g0311 a0007c0009t0002g0312 a0007c0009t0002g0313 others(7): Show a0007c0009t0002g0311 a0007c0009t0002g0312 a0007c0009t0002g0313 a0007c0009t0002g0314 a0007c0009t0002g0315 a0007c0009t0002g0316 a0007c0009t0002g0317 a0011c0018t0001g0131 a0011c0018t0001g0132 a0026c0047t0002g0310	10	316	0.0316	-566	c.515 others(19): Show c.5156-1735_5156-1170del	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	26/32			chr11	TogoVar
CPAMD8_chr19_16887951_17031810	16976274	GAGACCAG others(559): Show GAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAA AATTTAGCTGGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTAGGAG GCTGAGGCAGGAGAATCGCTTGAAGCCCAGAGACAGAGGTTGCAGGGAGC TGAGAGAGTGTGGTTGCACCCCAGCCAGGGCAACAAGAATGAAACTCCAT TTCAAACAATGAAAAAAAGAAACTTGGTTCAATCCAGGTTTGGTCTAGTC CAGAGGCATCTCTTCTGCCCCACCCATGCACCCCCTGCCCACCAAGGAGA GTGGGTCTTTGCCAGCTCAGCTGGGAACCTGGCCTCGCTACCTGGGTGAA ACTGGTCCCACACTGTGAAGGGCAGCTGGTCATTGTGCAGCGGGCACAAA GAAGGGAACACAGAGGGACAGGCAGAGATGGGAAGGCAGGTGCTGGCGGA GAGCCTGTGGCAGTTTGTTTACAAGTTGCAGGGAGGAGCCAGGCGCAGTG GCTCACACCTGTAATCCCAGCACTTCGGGAGGCTGAAGCATGTGGATCAC TTGAGGCCAGGAGTTCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 HG01891.hp2 HG03471.hp1	a0064 a0095 a0064 a0095	a0064c0068 a0095c0162 a0064c0068 a0095c0162	a0064c0068t0002 a0095c0162t0001 a0064c0068t0002 a0095c0162t0001	a0064c0068t0002g0159 a0095c0162t0001g0017 a0064c0068t0002g0159 a0095c0162t0001g0017	2	276	0.0072	-566	c.175 others(17): Show c.1758+528_1759-124del	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	15/41			chr19	TogoVar
EHMT1_chr9_137614005_137841127	137818862	GCGCCGTG others(559): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAG AGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAG GGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTA CCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAG AGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTG AGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTG TACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGT AGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAC TGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCG TGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACC GTAGAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02165.hp1 HG02258.hp2 others(3): Show HG01257.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp2 NA19005.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0115 others(3): Show a0001c0001t0001g0088 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0011t0001g0036	6	163	0.0368	-566	c.354 others(18): Show c.3540+725_3540+1290del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
GRTP1_chr13_113319163_113369130	113346354	AGGAGGAC others(559): Show AGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGA GCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCTCT GTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGG GAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGA GCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCT GTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGG GAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGC AGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGT GGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGA GGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGC AGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GGCTGAGAGCGGACCTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	175	0.0057	-566	c.466 others(17): Show c.466-1961_466-1396del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346471	CGGGAGGA others(559): Show CGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAA AGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACC TCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAG AGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAG CAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp2 HG02451.hp2 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0003 a0006c0006t0005 a0001c0001t0003 a0006c0006t0005	a0001c0001t0003g0268 a0006c0006t0005g0252 a0001c0001t0003g0268 a0006c0006t0005g0252	2	276	0.0072	-566	c.466 others(17): Show c.466-2078_466-1513del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
IQCH_chr15_67249786_67506804	67391144	AGCCAGGA others(559): Show AGCCAGGAGACAGGCACTCACAGATGCACATAGTATAGGTTTACATCTTT GTGAGTAGAAACAAGTAGGCAAGGTTTTAAGTACTTAATAGTTCTCATAG CTCAAGTTTAAATTATTTGAGTAATTACTCATAAGCAATCAACTTTTTAA AAATACAAAAATTAAATTCTCACTTTCAAATCAGTTCTTGTTCATGTTTG GTAGTTGCTTTATTTGTTGTTAATGGGTTTGAGAGATTGTATCAGTGCTG ATTTTCATTTAAATGGATGGCTATGAGATTTTTTAAAGCATGCCAAAAAT CTGTTTGTACATCTCTCCAAGTTACTATATGATTCTTGAATTTGTAATGG TAAAATGTGCTCTTTATAAAAGTCATTATGTCTATTTTTAGACATTTCAG TGTTTATGAAGACATCCTAAACAACTACCTTTTATCTCAGGTCAAAAAAA AAATCAGTGGTGATAAATTAAATGTAGCCATAATTCAATGGAACTAGACA CATTTTAGATTTTGTCATCTGTGTTAATCCACTGCCTGGATCTGATGATA CTGATGTTCTCCAAATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	274	0.0036	-566	c.163 others(19): Show c.1632+2140_1632+2705del	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
PLD5_chr1_242077986_242529697	242393746	ATGTGTGT others(559): Show ATGTGTGTATATGAGTATATAAGTATTTTTAGGCAGGGCCGCAGTGGCTC ACGCCTGTATTCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATTACCTGA AGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTA CTAAAAATGCAAAAATTAGCTGGGTGTGGGGGTGCGTGCCTGTAATCCCA GCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCGGAG GTTGCAGTGAGCTGAGATCACGCCACTGAACTCCAGCCTGGATAAGACGA CGACTCCATCTCAAAAAAAAACATATATATATATGAGTATATATATGTAT ATATGTGTATATATATGAGTATATATATGTGTATATATATGAGTATATAT ATGTGTATATATATGAGTATATATATGTGTATATATGAGTATATATGAGT ATATATATGTGTATATGAGTATATATATGTGTATATATATGAGTATATAT ATGTGTATATATATGAGTATGAGTATATATATGTGTATATATATGAGTAT ATATATGAGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19066.hp1 HG03688.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0005 a0001c0002t0003g0147 a0001c0001t0002g0005 a0001c0002t0003g0147	2	186	0.0108	-566	c.190 others(19): Show c.190-46070_190-45505del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PRRX2_chr9_129660647_129727674	129662049	ATGAGCCA others(559): Show ATGAGCCACTGCGCCCAGCCAGATATTTAAAAAATAATCATTGTTAACAT GTATTAAATGCTCACTAGGTACCAGGTGTCCTTTATTTATACATTGGTTT ATTTAATCCTCCTAACAGCTCATTTTCTTTTTCTTTTTCTTTCTTTCTTT TTTTTTTTTTTTTTGAGATAGGGTCTCTTTATCTGCTGACCTTCCCTCCA CTATTGTCCTATGACCCTGCCAAATCCCCCCCTGCGAGAAACACCCAAGA ATGATCAATAAATACTAAAAATAAATAAATAAATAAATAAAATTAAATTA AAAAAAAAAGAGAGATAGGGTCTCACTCTGCTGCCCAGGCTGGAGTGCAG CGGTGCCATCACAGCTCACTGTAGCTCAACCTCCCAGGCTCAAGCAATCC TCCGATCTCAGCCTCCAAGTAGCTGGGGACTATAGGCATGCATTGCCACA CCAGCTACTTTTTTTTTCTAGAGATGAGGTCTCACTATGTTGCCCAGGCT GGTCTTGTACTTCTGGGCTCAAAAGATCCTCCTACCTCAGCCTCCCAAAG TGCTGGGATTACAGGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00621.hp2 others(51): Show HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01123.hp2 HG01257.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp2 HG02273.hp1 HG02572.hp2 HG02809.hp2 HG02818.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG04228.hp2 NA18612.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19007.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0007 a0001c0001t0001g0159 a0001c0001t0001g0162 others(50): Show a0001c0001t0001g0007 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0338 a0001c0001t0002g0167 a0001c0001t0002g0176 a0001c0001t0002g0186 a0001c0001t0002g0208 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0185 a0001c0001t0003g0206 a0001c0001t0004g0209 a0001c0001t0005g0207 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0204 a0001c0001t0006g0293 a0001c0001t0007g0202 a0001c0001t0012g0168 a0001c0001t0016g0160	54	356	0.1517	-566	c.-38 others(11): Show c.-3818_-3253del	PRRX2	ENSG00000167157.11	transcript	ENST00000372469.6	protein_coding		3597		chr9	TogoVar

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