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
FRMPD4_chrX_12133473_12729523	12622019	GAAGGAAG others(1177): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA AAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGA GAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCT GGAGCTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTCAACAG CAGACTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGA AATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAG GAAGCATACAGGTCCTATGAGATACCATCAATTGAATGAATATATGCATT ATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAA AGAAATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCCA GATTTATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTC TAAGACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAATA TTGCCCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAAATAAT ACAAAATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGAC CACCAAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATAA AGAAATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTG GGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCC TGGGCAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTG GCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGAC TTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCAC TGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAA GAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGG GAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGA AGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp1 HG01934.hp1 others(18): Show HG01358.hp1 HG01515.hp1 HG01934.hp1 HG02135.hp1 HG02738.hp1 HG03453.hp2 HG03942.hp1 NA18612.hp1 NA18943.hp1 NA18948.hp1 NA18962.hp2 NA18975.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA19060.hp1 NA19079.hp1 NA19085.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0018 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0002c0003t0003 a0002c0003t0005 a0002c0018t0003 a0003c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0002g0044 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0002g0044 a0001c0001t0002g0104 a0001c0001t0002g0154 a0001c0001t0007g0113 a0001c0002t0001g0010 a0001c0002t0001g0032 a0001c0002t0001g0093 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0128 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0159 a0001c0002t0001g0167 a0001c0002t0001g0169 a0002c0003t0003g0098 a0002c0003t0005g0139 a0002c0018t0003g0161 a0003c0009t0001g0129	21	153	0.1373	-1184	c.422 others(17): Show c.422+7691_422+8874del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
RFT1_chr3_53083483_53135435	53098541	GCCTGTAA others(1177): Show GCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCGGGAGAATCACAAGGTC AGGAGATCGAGACCAACCTGGCTGACACGGTGAAACCCCATCTCTACTAA AAATACAAAAAATTAGCCAGGCATGGTGGCACGCGCCTGTAGTCCCAGCT ACCTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTT GCAGTGAGCAGAGACTGCGCCACTGCACTCAAGCCTGGGCGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAACCACTGGTAGG GGATTCCAGGACAGGAATCCTGATCTGGAGTCAAGAGTTGAGAAAAAATT ATGGCAAGATGAGATGTATGTGTGCACTTGGGCTTTTCTCAGGAGAAGTG TCACAGAATCCCTGAGATTCTCAAAGACCCACCAATCAGGTTCTCAGGGG TAGGAATGTGCATCTTGAAGAAGCTCCTCAGTAACTTACTGGAGGACCAC TCTTCTGGGGTGAGCAAGGAGGTGGAGGAATGGAAATCTAGCTTGTCTGG TGCCTGACTCTGCAAACCTGGACTAATGTAACCTTTCAGAGCCGATGTTT CTTCCTCCACAAAGGGGAGGCAAAGAGTAGTTGCTGCCTCCCAGCCCTAC AGTGGGGAGCACTTGCTGAACCATGCTGGTGCCACAGAGATCCCAGGGGA GCACCACACTGGTGGACTAAGTGTTGCCTCTAAAACAGCCATCTGTAAAT GCATGTTCAGAACGAAAAGCAAAAAGCTTGACAAGTTATTTCATTTTGGC TGAAGGCCATGATTAAAGGTGTACCTGCTAGGTTACCCACCTGTCGACCT CCTCTTTGCTCATGGCAGCAAATGTGAAACACTCTGTCACTCCATTGATG GCAAGCAGGAGAACATAGAGACAGTAGGAACGCAGCAAAACAGGACCTAC AAGGAAACAACTCACTGAGACTCCAGAGCCCAATCAGAAGGCCCACATGT ACCCTCAGTGCTGCTGAGTACCCAGAGAACCAGAACCAGACTATGAGGTC TGCTGGTATCAGCAATGGGCAGACTGCATGCTAGAGCCCAGGGTCTTAAT AATCTAGAAGGATTCCCAACATTCTATGGCATTGACTAAATAATCAGCAA AAAACAAAATGACAGGCTGGGCACGGTGGCTCACA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA20905.hp1 NA20905.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0097 a0006c0006t0004g0097	1	322	0.0031	-1184	c.110 others(17): Show c.1103-239_1208+839del	RFT1	ENSG00000163933.10	transcript	ENST00000296292.8	protein_coding	11/13			chr3	TogoVar
SKI_chr1_2223319_2315213	2281122	AGGATGCC others(1177): Show AGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGA GAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG GACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCC CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0265 a0001c0001t0011g0265	1	305	0.0033	-1184	c.970 others(19): Show c.970-21853_970-20670del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOC4L_chr12_132139457_132157468	132148962	TACCACAC others(1176): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG00642.hp2 HG01081.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0004c0010t0001 a0001c0001t0001 a0004c0010t0001	a0001c0001t0001g0003 a0004c0010t0001g0003 a0001c0001t0001g0003 a0004c0010t0001g0003	2	175	0.0114	-1183	c.901 others(15): Show c.901+106_902-798del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETV2_chr19_35636745_35649871	35639522	GGAGCGTG others(1175): Show GGAGCGTGGGGGAAGCTGAACAGTTACCAGTTGGGTACGTTGCTCACCAT TCGGGTGCACTAAAGGCCCAGGCCAGTATACTGGATATACTGACATATAT CCAGTAAGGAATCTGCACTTGTACCCCCTAAATGTTTATCTTTTTTTTTA ATGCACACAAGTCTTCCTGAGAACAAGAAGAGACACACACACATAGAATG TGGCAAGCAGAGGTAGAGATGGCGCTGTGAGCAGGAGGCTCAGAGGCAGA GATGAGAACCATCAGAGACTGTGCAGTGGGAAGGGGGACGGGGAGAAAAC CAAGAGACAGATGGAGACGGACAAGGAGATGAGATAGGAACACTCAAAGA CAGATGGGGAGGGACAGAGATGTCAGAAGAGACCAGGTGACAAAGCCTCA CTGGAGTCAGGCCCGTGGCAACAGAGACCCAGCTTTAGATATGCCAACCT GAAGAAAGAGGGCAGAGAGACATGGAGAGACAGACAAGAGGCCAGCTTCA AGGATGGGAAGCCAGGACTCCCTTCAGGCCTCCGCGCTGGACGGATAGAG GGACCAGTGATGCTCCAGGGCTCTGTGGCTTACCCCACACTGATTCCAAT CCCAGTCCCACTCCCACTCCATGGGACCCCCGGTTTACTTTACTGTAAAA TGGAAGGAGGAGCAATGCCACCCGCTCTCCAGAACGGCAAGTAGTTAATG ATCAAGAGGCTGGGCTGGGGACTGGAAGATGCCGATATGCAAAAGTTATT TTTAATGGTAAATATTACATACTTATTAAAATACAGCAGGATGGCTGGGC ACGGTGGTGGCTCATGCTTCTAATTACAGCACTAAGGCTAAGGCAGGTGG ATAGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACC CCATCTCTACTAAAAATGCAAAAATTAGCCTAGGCATGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGACCGAGGCAAGTGGATCACTTGAGGTCA GGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAA AATGCAAAAAATTAGCCGGGCATGGTGGTGCTTGCCTGTAATCCCAGCTA CTTGGAAGGCTGAGGCACCAGAATTGCTTGAACCCGGGAGGCAGAGGTTG CAGTGAGCTGAGATCGCACCACTGCACTCCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	-1182	c.-26 others(11): Show c.-2661_-1480del	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2222		chr19	TogoVar
RBM42_chr19_35624036_35642685	35639522	GGAGCGTG others(1175): Show GGAGCGTGGGGGAAGCTGAACAGTTACCAGTTGGGTACGTTGCTCACCAT TCGGGTGCACTAAAGGCCCAGGCCAGTATACTGGATATACTGACATATAT CCAGTAAGGAATCTGCACTTGTACCCCCTAAATGTTTATCTTTTTTTTTA ATGCACACAAGTCTTCCTGAGAACAAGAAGAGACACACACACATAGAATG TGGCAAGCAGAGGTAGAGATGGCGCTGTGAGCAGGAGGCTCAGAGGCAGA GATGAGAACCATCAGAGACTGTGCAGTGGGAAGGGGGACGGGGAGAAAAC CAAGAGACAGATGGAGACGGACAAGGAGATGAGATAGGAACACTCAAAGA CAGATGGGGAGGGACAGAGATGTCAGAAGAGACCAGGTGACAAAGCCTCA CTGGAGTCAGGCCCGTGGCAACAGAGACCCAGCTTTAGATATGCCAACCT GAAGAAAGAGGGCAGAGAGACATGGAGAGACAGACAAGAGGCCAGCTTCA AGGATGGGAAGCCAGGACTCCCTTCAGGCCTCCGCGCTGGACGGATAGAG GGACCAGTGATGCTCCAGGGCTCTGTGGCTTACCCCACACTGATTCCAAT CCCAGTCCCACTCCCACTCCATGGGACCCCCGGTTTACTTTACTGTAAAA TGGAAGGAGGAGCAATGCCACCCGCTCTCCAGAACGGCAAGTAGTTAATG ATCAAGAGGCTGGGCTGGGGACTGGAAGATGCCGATATGCAAAAGTTATT TTTAATGGTAAATATTACATACTTATTAAAATACAGCAGGATGGCTGGGC ACGGTGGTGGCTCATGCTTCTAATTACAGCACTAAGGCTAAGGCAGGTGG ATAGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACC CCATCTCTACTAAAAATGCAAAAATTAGCCTAGGCATGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGACCGAGGCAAGTGGATCACTTGAGGTCA GGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAA AATGCAAAAAATTAGCCGGGCATGGTGGTGCTTGCCTGTAATCCCAGCTA CTTGGAAGGCTGAGGCACCAGAATTGCTTGAACCCGGGAGGCAGAGGTTG CAGTGAGCTGAGATCGCACCACTGCACTCCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	426	0.0023	-1182	c.19 others(11): Show c.1969_*3150del	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1838		chr19	TogoVar
ZNF516_chr18_76352682_76500242	76393166	CAGGTGGT others(1175): Show CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0092 a0001c0044t0092	a0001c0044t0092g0110 a0001c0044t0092g0110	1	343	0.0029	-1182	c.181 others(21): Show c.1811-14045_1811-12864del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ERICH1_chr8_659200_736224	675237	CGGCGAGG others(1174): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC GGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCG GCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAG GCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGTG AGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCT CGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCC CCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAG AGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	350	0.0029	-1181	c.305 others(17): Show c.305-2371_305-1191del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ZHX3_chr20_41173455_41322731	41277677	CGCCTCCC others(1174): Show CGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGCCCGCTACCATGCCTGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGC CACCACGCCCGGCCCCCTCCATGTCAAATATTTTAAGCATGTTTTAAATG CAGAAAGTATAGTGTAGGGGATGGAAAGATTAATTTAAGTGTGGAAAAAA AACTCCCCTGATTACAAGAGCAATACACTTTCAATAAAAGCAAACTGTAA AATACAAAGAAGTAGAGAAGATTATAGCTAGGGGAGGCTGGGTGTGGTGG CTCACGCCTGGGATTGTACACTTTGGGAGGTCGAGGTGGGCAGATCACTT GAGGCCAGGAATTCGAGACTAGCCTGGCCAACATGGTGAAACTACATCTC TACTAAAAATACAAAAATTAGCTGGGTGTTGGGGGTAACACTTGTAGTCC CAGCTACTCGGGAAGCTGGGGCAGGAGAACTGCTTGAACTAGGGAGGCAG AGGTTGCAGTGAGCAGAGATTGTGCCACTGTAACTCCAGCCTGGGTGACA GAGAGAGACCCTGTCTTGAAGGAAAAAAAAAAAGATTATAGTTGGGGGAA AGCTCATGTAAGCCAAAACTATCCACTACCAAAAGATAAGCACTGTCAAC ATTCTGATGCACATGCACAATTTTAACCATACTGGGATCATACTGCACAT ATTGGTATTTTTTCTCACTTAAATATAGGTCTGATAAACATCTCTCATGT TATTGAGCATTCTTTGCATCTTTTATTACTACTGAGGTTAAATCTTTTCA TGTGATTAGCGGCCATTCATATTTCTTTGTGGAACAGCTTGGCAATTTAG AAAATAATGCCAATATTTTCCTGAATATACTTATTGTAGATATATGGAAA ATACAGAAGAGTATAAGACTATAGAGGAAAAAATTCACATAATTCAAATC ATAGAAACAATCACTGCTGCTAATTTTTACTTTTCTCTGCACAGTTTTTT TTTGTTTTTGTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTG CAGTGGCATGATCTGGGCTCACTGCAAGCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(92): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01928.hp1 HG01934.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02647.hp2 HG02683.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19012.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0001c0008 others(2): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0022 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0053 a0001c0001t0062 a0001c0007t0001 a0001c0008t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0087 others(92): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0087 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0271 a0001c0001t0002g0233 a0001c0001t0008g0256 a0001c0001t0019g0228 a0001c0001t0022g0216 a0001c0001t0022g0234 a0001c0001t0033g0231 a0001c0001t0034g0218 a0001c0001t0036g0291 a0001c0001t0037g0203 a0001c0001t0042g0183 a0001c0001t0043g0191 a0001c0001t0044g0247 a0001c0001t0045g0230 a0001c0001t0053g0148 a0001c0001t0062g0356 a0001c0007t0001g0151 a0001c0007t0001g0190 a0001c0008t0001g0210 a0002c0002t0001g0156 a0002c0002t0001g0181 a0002c0002t0001g0182 a0003c0005t0001g0166 a0003c0005t0001g0244 a0003c0005t0001g0245	95	358	0.2654	-1181	c.-24 others(19): Show c.-244-9775_-244-8595del	ZHX3	ENSG00000174306.22	transcript	ENST00000683867.1	protein_coding	1/3			chr20	TogoVar
CYP4F11_chr19_15907377_15939529	15932685	GAGAGGAA others(1173): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG CAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp2 NA20300.hp2 HG02818.hp1 HG03098.hp2 NA20300.hp2	a0001 a0010 a0001 a0010	a0001c0006 a0010c0015 a0001c0006 a0010c0015	a0001c0006t0098 a0001c0006t0104 a0010c0015t0100 a0001c0006t0098 a0001c0006t0104 a0010c0015t0100	a0001c0006t0098g0123 a0001c0006t0104g0122 a0010c0015t0100g0121 a0001c0006t0098g0123 a0001c0006t0104g0122 a0010c0015t0100g0121	3	348	0.0086	-1180	c.198 others(16): Show c.198+346_198+1525del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
FRMPD4_chrX_12133473_12729523	12621976	AAGAAAGA others(1173): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAG AAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGA GGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTA AAGAATACAATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTC AATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACC CAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCAT ACAGGTCCTATGAGATACCATCAATTGAATGAATATATGCATTATGGGAA TATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATA ATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTAT ACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACA CATTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCC TAAGAGATATCATTTGAGATATATAAATTACATGAAAAATAATACAAAAT AATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAG AAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATA CAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCC AAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAA CATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAA TCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCC CAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCC TGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGA AAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGA AGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGA AAGAAAGAGAGAGAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01106.hp1 others(13): Show HG00639.hp1 HG01069.hp1 HG01106.hp1 HG01169.hp2 HG01192.hp1 HG02015.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG03453.hp1 NA19082.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0002c0003 a0002c0004 a0002c0005 a0002c0012 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0001c0008t0004 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0005t0001 a0002c0012t0001 a0004c0014t0007	a0001c0001t0001g0046 a0001c0001t0002g0066 a0001c0002t0001g0081 others(13): Show a0001c0001t0001g0046 a0001c0001t0002g0066 a0001c0002t0001g0081 a0001c0002t0001g0163 a0001c0002t0002g0115 a0001c0002t0002g0151 a0001c0007t0001g0171 a0001c0008t0004g0008 a0002c0003t0001g0006 a0002c0003t0001g0083 a0002c0003t0003g0040 a0002c0004t0001g0007 a0002c0004t0001g0168 a0002c0005t0001g0060 a0002c0012t0001g0088 a0004c0014t0007g0111	16	174	0.0920	-1180	c.422 others(17): Show c.422+7138_422+8317del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622023	GAAGGAAG others(1173): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGA AAGAAGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGG AGAGGAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAG CTAAAGAATACAATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGA CTCAATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATT ACCCAGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAG CATACAGGTCCTATGAGATACCATCAATTGAATGAATATATGCATTATGG GAATATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAA ATAATGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATT TATACAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAG ACACATTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGC CCCTAAGAGATATCATTTGAGATATATAAATTACATGAAAAATAATACAA AATAATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACC AAGAAAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAA ATACAGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAG GCCAAGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGG CAACATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCC GAATCTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGA GCCCAGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTA GCCTGGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAA GGAAAAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAG GGAAGTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAA AGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG02056.hp1 others(9): Show HG00639.hp2 HG00738.hp1 HG02056.hp1 HG02083.hp1 HG02293.hp2 HG03490.hp1 HG03491.hp2 HG04115.hp1 NA18984.hp1 NA19058.hp1 NA19062.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0003	a0001c0001t0001g0077 a0001c0001t0001g0105 a0001c0001t0001g0127 others(9): Show a0001c0001t0001g0077 a0001c0001t0001g0105 a0001c0001t0001g0127 a0001c0001t0002g0103 a0001c0001t0002g0141 a0001c0002t0001g0095 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0002g0126 a0002c0003t0003g0041	12	174	0.0690	-1180	c.422 others(17): Show c.422+7181_422+8360del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
NOC4L_chr12_132139457_132157468	132149048	CACACCAC others(1173): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	-1180	c.901 others(15): Show c.901+154_902-753del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
ZNF57_chr19_2895928_2923473	2909320	GCCCAGGC others(1173): Show GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCC TCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGACACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCATGTTAGCCAGGATAGTCTTGACGTCGTGATCCGCACG CCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCTCTGTGCCTGG CCGGTATCTTGTTTTAATTTGCATTTCCCTGATGACATGATGTGGAGCAT TTTTTATATACTCATCTGCCATCTATATCTTCACAGATGAGTTGTCTTAA GGTCTTTAGCCTCCACACCTGGCTAATTTTTTCTTAATTTTAGAAATGGG GTCTCACTGTGTTGCCCAGGGTGATGTGAAACTCCTGAGCTCAAGCAATC CTCCCACCTTGGCCTCCCAACATGCTGGGATTACAGGCATGTGCCACCAC ACCTGGCCTATTTGTACATGCTTTACTCTACATCGCACTCTCCTGATGAC TACAGCTCTCCAGAAAGCCTGGAAAATGCATAGTGTCAGTCTTCCAACTT GAACCTTCCCCTTCAATACTGTGTTGGTATTTTGAGTCTTTTACCTCTCC ATATAAACTTTACAATCAGTTTGTCAATATCCACCAAATAACTTGCTGGG ATTTTGATTGGGATTGTGTTGAATCTATAGATCAAGTTGGGAAGAACCAA TGTCTTGACAATATTGGGTCTTCTATACGTGGACATGGAATAACTATTCA CTTAGTTCTTTGATTTCTTCTGTCAGAGTTTTACAATTTTCCTAAGATCT TGTGCACATTTTGTTAGATTTATACCTGTATGTTTTATTTTAGGGCAATG CTGATTTAATTCCAGTATTGTCTAAGAGCATATGATGTACGATATTCTTT TAAACTTGTTAAGGTGTTTTATGTCCCAAAATACAGTCTAGGTTGAGGAG TGTTCCACGTGAGCTTGACAAGAATGTGTTTTCTGCTGTTGTTGAAGTTG TCTACAGACATTCATCATTGGGGGTGCTGTTGAATTCAACTCTGTGCTTA TTGATGTTCCACGTGCTTGATCTGTTTCTTTTCTTTTCTTTTTTTTTTTT TTTTTTTTTGAGACAGAGTCTCACTCTGTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(85): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18969.hp1 NA18980.hp2 NA18990.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0002 a0001c0003 a0001c0015 others(2): Show a0001c0002 a0001c0003 a0001c0015 a0004c0006 a0016c0016	a0001c0002t0001 a0001c0003t0003 a0001c0015t0001 others(2): Show a0001c0002t0001 a0001c0003t0003 a0001c0015t0001 a0004c0006t0001 a0016c0016t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0009 others(64): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0058 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0153 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0235 a0001c0002t0001g0263 a0001c0003t0003g0207 a0001c0003t0003g0233 a0001c0015t0001g0037 a0004c0006t0001g0027 a0004c0006t0001g0098 a0004c0006t0001g0139 a0004c0006t0001g0222 a0004c0006t0001g0232 a0004c0006t0001g0236 a0004c0006t0001g0237 a0016c0016t0001g0009	88	396	0.2222	-1180	c.4-6 others(13): Show c.4-6172_4-4993del	ZNF57	ENSG00000171970.14	transcript	ENST00000306908.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF57_chr19_2895928_2923473	2909409	TAGCTGGG others(1173): Show TAGCTGGGACTACAGGCGCCCGACACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTTGACGTCG TGATCCGCACGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCC TCTGTGCCTGGCCGGTATCTTGTTTTAATTTGCATTTCCCTGATGACATG ATGTGGAGCATTTTTTATATACTCATCTGCCATCTATATCTTCACAGATG AGTTGTCTTAAGGTCTTTAGCCTCCACACCTGGCTAATTTTTTCTTAATT TTAGAAATGGGGTCTCACTGTGTTGCCCAGGGTGATGTGAAACTCCTGAG CTCAAGCAATCCTCCCACCTTGGCCTCCCAACATGCTGGGATTACAGGCA TGTGCCACCACACCTGGCCTATTTGTACATGCTTTACTCTACATCGCACT CTCCTGATGACTACAGCTCTCCAGAAAGCCTGGAAAATGCATAGTGTCAG TCTTCCAACTTGAACCTTCCCCTTCAATACTGTGTTGGTATTTTGAGTCT TTTACCTCTCCATATAAACTTTACAATCAGTTTGTCAATATCCACCAAAT AACTTGCTGGGATTTTGATTGGGATTGTGTTGAATCTATAGATCAAGTTG GGAAGAACCAATGTCTTGACAATATTGGGTCTTCTATACGTGGACATGGA ATAACTATTCACTTAGTTCTTTGATTTCTTCTGTCAGAGTTTTACAATTT TCCTAAGATCTTGTGCACATTTTGTTAGATTTATACCTGTATGTTTTATT TTAGGGCAATGCTGATTTAATTCCAGTATTGTCTAAGAGCATATGATGTA CGATATTCTTTTAAACTTGTTAAGGTGTTTTATGTCCCAAAATACAGTCT AGGTTGAGGAGTGTTCCACGTGAGCTTGACAAGAATGTGTTTTCTGCTGT TGTTGAAGTTGTCTACAGACATTCATCATTGGGGGTGCTGTTGAATTCAA CTCTGTGCTTATTGATGTTCCACGTGCTTGATCTGTTTCTTTTCTTTTCT TTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTCCCAGGCT GGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCGCCGCCTCCTGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCCAGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	393	0.0025	-1180	c.4-6 others(13): Show c.4-6097_4-4918del	ZNF57	ENSG00000171970.14	transcript	ENST00000306908.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATP6V1B2_chr8_20192381_20226696	20224308	AAGAAACT others(1172): Show AAGAAACTTGCCTCCCTCTAACTTCACGGAGGGGTATCCTTGGGCTGTCC CCTACGGCTCTCCCAGGTGTTTACCCTCTACCATTCTGAAGATAGTTGGC CACTTCTAAGTCTTCAGTCTAAATATTTCTAGTTCGCTTAACCATCCCTC CCTTTATGAGTTAGGGAGTTACTGATCTCTCTGGTAACTGAACAGGTTTA GAAGTCAGATCTAGCCTCCTCCCATAGTACTTTTGTTATTGGGTCTGTGT TGTCCATAGAAAATCTTCTCCAAAATCTAGAGGCTCAGCTCATGGAAACC AAGGCCTCTCCCAAGCGGGAAGCTGGAGCTGGAAGCGAGCACGGACCATG GGCCTTGAGACCAACTCACAGAGGCTGGGACTCTGATTCAAGCTTAGGTT GCTGGAAACCTCAATATACTCTGACGTAAGACATTCTATTCTCTGGTTCT ACTATACTTTTCCCCAGGATCTACTATTCAGTCGCACTCAAGTGTGGCCC TAGCACCAAGGAAGCTTCATTAGTGATTTACCTACTAGATGTTCATTGTT CAGATAAAACTTGGAAAGTGCAGGTAAGCATGAAGAAGAGAGTTCCATAA TCCTATGACTTTGAGGAAATTTAACACTTTATCATATAGAACCTTTCAAC AATCATGACTTTACCACCTGTGGCTTTGCCCTTCTGTCTTCTTAAGCCAA AGCCCACGGCAATTCTGGCTGCTTTCTCCTGAGGACCACATATATATAAG ATTATGGGAATCATGTCAAGAAGAGATGTGTTTAAGGTGTAAACTTTCAG TACATGAGATTACAAAACAGCCGTGTGGTTTAATCTGAGGGCTCCGTTGA AAAACAAAAATAATTTCCAAATAACAAAGTTCTATTGAATTCCTTAGATT ACATGTGCCATGAGGGGAATTGTGGTCCTTTAGCAGTACTTCTCAAAAGC CCCTTTCTTCTTTTTTTTTTTGAGGTGTCTCACTTTGTCGCCCAGGCTGG AGTACAGTGGTGCGATCTTGACTGACTGCAACCTGCAACCTCTGCCTCCG GACTCAAGCGATTCTCTTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGG TGCGTGCTACCACGCCTGGCTAATTTTTGTATTTTTAGTGAGACGAGGTT TCACCATGTTGGCCAGGCTGGTCTCGAACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03540.hp2 HG02818.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0156 a0001c0001t0006g0154 a0001c0001t0006g0156	2	400	0.0050	-1179	c.39 others(11): Show c.3907_*5085del	ATP6V1B2	ENSG00000147416.11	transcript	ENST00000276390.7	protein_coding		2613		chr8	TogoVar
FRMPD4_chrX_12133473_12729523	12622054	GGAAGGAA others(1172): Show GGAAGGAAAGAAGGAAAGAAAGAAGGAAAGAAGAAGAAAAGAGGAGAAGA GAGGAGAGGAAAGGAGAGGAGAGGAGAGGAGAGGTGAACTATAAAAAGAA CCAAACAGAAATCCTGGAGCTAAAGAATACAATGACAAAACTAAACATTT TAATAGCTTCAACAGCAGACTCAATTATGCAGAAGAATCAGCAAATGTGA AGACAGGCTATTTGAAATTACCCAGTTAGAGGAACAGAAAGTAAAAAGAA TAAAAAAGAGTAAAGGAAGCATACAGGTCCTATGAGATACCATCAATTGA ATGAATATATGCATTATGGGAATATTAGAAGGAGAAAAGGAAAAAAGGGG AAAAAGCTTATTTAAAGAAATAATGGCTGAAACGTCCTAAATCTTGGAAG GGATATGGACATCCAGATTTATACAAATCAAAGGGTCTCAAGCAGAATCA ATCCAAAGACTACTCTAAGACACATTATAACCAAATTTTTAAAAGCCAAA CACAGACATAGAATATTGCCCCTAAGAGATATCATTTGAGATATATAAAT TACATGAAAAATAATACAAAATAATCACCTTAATGAAGCTCAGTGGGATA CAAGAGAACACAGACCACCAAGAAAAACAAAAAGCAATACATAAACAAAA TAAAAAGTTTAATAAAGAAATACAGGTCAGGCGTGGTGATTCACATTTGT AATTCCAGCACTTTGGGAGGCCAAGGCAGGCAGATGGCTTTGAGCCCAAA AGTTCAAGACTAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAT TAGCCAGATGTGGTGGCCCGAATCTGTAGTCCCAGCAACTTGGGAGGCTG AGGTGGGAGGATGACTTGAGCCCAGGAGGCAGAGGTTTCAGTGAGCCAAG ATCACACCACTGCACTGTAGCCTGGGCAACATAGCCAGACCCTGTTTCAA AAAAAGAAAAGAAAAGAAAGGAAAAAGGAAAGGAAGTAATAAGGAAAGGA AAAAGGAAAGGAAGGGAAGGGAAGTGAAGGGAAGGGAAGTGAAGGGAAGG GAAAGGAAGGGAGGAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	174	0.0057	-1179	c.422 others(17): Show c.422+7175_422+8353del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF57_chr19_2895928_2923473	2909390	CCTGCCTC others(1172): Show CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGACACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGC CAGGATAGTCTTGACGTCGTGATCCGCACGCCTCGGCCTCCCAAAGTGCT AGGATTACAGGCATGAGCCTCTGTGCCTGGCCGGTATCTTGTTTTAATTT GCATTTCCCTGATGACATGATGTGGAGCATTTTTTATATACTCATCTGCC ATCTATATCTTCACAGATGAGTTGTCTTAAGGTCTTTAGCCTCCACACCT GGCTAATTTTTTCTTAATTTTAGAAATGGGGTCTCACTGTGTTGCCCAGG GTGATGTGAAACTCCTGAGCTCAAGCAATCCTCCCACCTTGGCCTCCCAA CATGCTGGGATTACAGGCATGTGCCACCACACCTGGCCTATTTGTACATG CTTTACTCTACATCGCACTCTCCTGATGACTACAGCTCTCCAGAAAGCCT GGAAAATGCATAGTGTCAGTCTTCCAACTTGAACCTTCCCCTTCAATACT GTGTTGGTATTTTGAGTCTTTTACCTCTCCATATAAACTTTACAATCAGT TTGTCAATATCCACCAAATAACTTGCTGGGATTTTGATTGGGATTGTGTT GAATCTATAGATCAAGTTGGGAAGAACCAATGTCTTGACAATATTGGGTC TTCTATACGTGGACATGGAATAACTATTCACTTAGTTCTTTGATTTCTTC TGTCAGAGTTTTACAATTTTCCTAAGATCTTGTGCACATTTTGTTAGATT TATACCTGTATGTTTTATTTTAGGGCAATGCTGATTTAATTCCAGTATTG TCTAAGAGCATATGATGTACGATATTCTTTTAAACTTGTTAAGGTGTTTT ATGTCCCAAAATACAGTCTAGGTTGAGGAGTGTTCCACGTGAGCTTGACA AGAATGTGTTTTCTGCTGTTGTTGAAGTTGTCTACAGACATTCATCATTG GGGGTGCTGTTGAATTCAACTCTGTGCTTATTGATGTTCCACGTGCTTGA TCTGTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCACTCTGTTTCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGC AAGCGCCGCCTCCTGGGTTCACGCCATTCT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	396	0.0025	-1179	c.4-6 others(13): Show c.4-6130_4-4952del	ZNF57	ENSG00000171970.14	transcript	ENST00000306908.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
AHRR_chr5_316714_443285	357764	AGGAAGAG others(1171): Show AGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCG CGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCG AGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCA GACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAG TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAG AGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCGTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCAAGTGGAGGCCCTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTG GAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAG CGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCG ACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCC GGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCA CGGAGTCCACCCGGGCAGTCAGCGACTGG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0007 a0002c0002t0006g0007	1	188	0.0053	-1178	c.244 others(17): Show c.244+3879_244+5056del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
DPH7_chr9_137549444_137583925	137565722	TCTGTCTG others(1171): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01169.hp1 others(6): Show HG00639.hp2 HG01109.hp2 HG01169.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02293.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0260 others(4): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0260 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0288 a0001c0001t0002g0295	9	326	0.0276	-1178	c.641 others(16): Show c.641-1746_641-569del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565774	GGGGTGAC others(1171): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03927.hp1 NA20905.hp2 HG02738.hp2 HG03927.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231	3	228	0.0132	-1178	c.641 others(16): Show c.641-1798_641-621del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
RIC1_chr9_5624107_5781557	5641632	TGACTATA others(1171): Show TGACTATATTGTCAAGTAGCCTGTCTCCAAGCCCACTAATTCTTTCTTCT GCTTGATCAATTCTGCTTTTCAGAGACTCTGATGCATTCTTCAGTTTGTT GGTTGCATTTTTCAACTTTAGAATTGCTGCTTGATTTTTAAAAATTTAAA TTTCTTTGTTTAAAATGTGATAGAATTCTGAGGTCCTTCTCTGTGTTATC TTCAATTTCTTTGACTTTCCTCAACATAGCTATTTTGAATTCCTGCCTGA AAGGTCACATATCTATCTCTGTTTTTCCAGGATTGGTCCCTGCCTTACTT AGTTCATTTGGTGGGGTCATGTTTTCCTGGATGATCTTGATTTGATGCTT GTAGATGTTCATTGGTGTGTAGGCATCAAAGAGGTAGGTATTTATTGTAG TCTTTGCAGTCTGGGCTTGTTTGTATCTGTCCTTTTTGAGAAGTCTTTCC AGTTATTCGAAGGGACTTGGGCCCCAAGCCCAATAATGCTGAGGTTTTTG CAGACTCAGAGGTACTGCCTTGGTGGTCTTGGATAAAATCTGGAAGAATT ATTTGGATTACCACGTAGAGACTCTTGTTCTTTTCTGTTACTTTCTTCCA AACAAATGGAGTCTCTCTCTGTGCTGAGTCTCCTGGAACTAGGGATGTGT TCATGCGTTGATGCAAGCACCCCTGTTGCCACCACCACTGAAACTAAGCT GGGTTAGACCTGAAGCCAGCAGAGCACTGGGTCTCATCCAAGGCCTGCTG TCACCACCACCTGGCTACCACCTATGTTCACTCAAGGCCCTAAGGCTCTA CCATCAGCAGGTGGTGAAGCCAGCCAGGTTTATGTCCTTCCCTTCAGAGT GTCTCATTCCCCAAACCCCAGGCCAGTCCAGAAATGCTGTCTGGAAGCCA GGGATTAGAGTCAAAATTCTTAGCAATTTGTTTGATATTCTGTTCTGTTG TGGCTAAGCAGGCACTCAAACCGTAACACAAAATTCTTCCCACTTTTTCC CCTGTCCACAGGCAGAGGAGAATCTGCCTCTGTGGCCACCACTACCACAG GGCCATAGTGGGTTCTGCCTGGCCACTGCCGGGCAGTCATCTTCAGGTGT TTATGAATCATTAACATAATCCATATTATAGTTAAATATTTATTTGGAGT TTACTGTGGACTAGGTATTTTACATCATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00741.hp1 others(33): Show HG00323.hp2 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01891.hp2 HG01981.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0017 a0003c0009 a0006c0021 a0007c0023 a0009c0020	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(13): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0002t0003 a0001c0006t0019 a0001c0008t0018 a0001c0017t0006 a0003c0009t0012 a0006c0021t0023 a0007c0023t0006 a0009c0020t0006	a0001c0001t0005g0004 a0001c0001t0005g0021 a0001c0001t0005g0022 others(33): Show a0001c0001t0005g0004 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0028 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0007g0005 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0007g0018 a0001c0001t0007g0027 a0001c0001t0007g0029 a0001c0001t0009g0016 a0001c0001t0009g0019 a0001c0001t0009g0199 a0001c0001t0014g0020 a0001c0001t0014g0030 a0001c0001t0025g0013 a0001c0001t0027g0007 a0001c0001t0029g0060 a0001c0002t0003g0008 a0001c0006t0019g0219 a0001c0008t0018g0037 a0001c0017t0006g0014 a0003c0009t0012g0006 a0006c0021t0023g0009 a0007c0023t0006g0015 a0009c0020t0006g0010	36	326	0.1104	-1178	c.144 others(19): Show c.144+12181_144+13358del	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMOC2_chr6_168436184_168672992	168572109	TTTCCTCC others(1171): Show TTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGA ACGCGATGTTCATTTCCTCCCCGCATCTCCGGGTGCCGGGACCAGGGCTG CGTGGTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCG GGACCAGGGCTGCGTGCTCCCTGAACGCAATGTTCACTTTCTCCCCGCAT CCCCGGGTGCCGGGACCAGGGCTGTGTGCTCCCTGAACGCGATGTTCATT TCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAAC GCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCG TGCTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGG ACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCC CCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCACTTC CTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGTGTGCTCCCTGAACGC GATGTTCATTTCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTG CTCCCTGAACGCGATGTTCATTTCCTGCCCGCATCCCCGGGTGCTGGGAC CAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTGCCCGCATCCCC GGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCT GCCCGCATCTCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAACGCGA TGTTCACTTCCTCCCCGCATCCCCTGGTGCCGGGACCAGGGCTGCGTGCT CCTTGGACGCGATGCTCATTTCCTCCCCACATCCCCGGGTGCTGGGACCA GGGCTGCGTGGTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGG GTGCGGGGACCAGGGCTGCGTGCTCCTTGGACGCGATGCTCATTTCCTTC CCACATCCCCGGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAATGCGATG TTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCC TTGGACGCGATGCTCATTTCCTTCCCACATCCCCGGGTGCTGGGACCAGG GCTGCGTGGTCCCTGAATGCGATGTTCAC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	176	0.0057	-1178	c.637 others(19): Show c.637+22952_637+24129del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH4_chr20_61247261_61945617	61943664	GTCTGCAC others(1170): Show GTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACC GTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACC GTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACC GTCTGCACCGTGGCCGCCCCTTCTCACCGACAACGAGGAGCACTGCGACC GTCTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACT GTATGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACC GTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACC GTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACC GTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACC GTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCCCC TTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC CTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCC TTCTCACTGACGATGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTC TCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTC TCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTC TCACCGACGACGAGGAGCACTGCGACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19240.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0006 a0001c0001t0001g0032	2	106	0.0189	-1177	c.67 others(11): Show c.6722_*7898del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3048		chr20	TogoVar
CEBPD_chr8_47731913_47743164	47733488	AATTGCAT others(1170): Show AATTGCATACTTTTACTCCAGAAGACCATAGGGTCATCTGTTTCACACTT GCACAAACATGCAAGACTAACTGAAACTCTAAGACACCAGAAGGGTGTCC AGCGCATATGCCGCCTCCACCCTCCCTCCCCGTGCGGTGACCCTGCTTCT GCTTCTGTATCCCCTGGTGTCCCCTCCAGTCCAGCAGCCTGGAGACTGTC CTGCTCACTGCCATCTCTTCAGTGACGGGCCCACATGGGATCATAATAAA CCCCATGTGTGAGCGAGTGAGCAGCTGCACTTGCCGTCCATGCCACCTCA GAGCCCTTGGGAAGGCCTCAGCTTCCATTACCAAGTTCCTTCTCTTTGCC TGTCTTGACCAGTGACACCCACTTCCCCCATCACTACATTAAACCATCCT GTTGACTTTATTCTTTTTCACCAAGGAAGCCAAAACTCTTGACAGAGCAC ACTGAATAGGCACCACGCCTGTCTTACAAATGGGAAAATCAAAGTCCCCC CACGAGTTGGCGTCAGTAGCGTTCACATCCCAGACTGATCCTGACATTTA TTTTTACAAAACAAACCATCTCAAAACTTGGTGGCATCAATATTCATTCT GTGCACAGAACTCTTGTTTGGACAGGGCTTCATCCGGATAGCTCCACTGG GCATTAGCGGGTGCCCCCAAGGCCGGTGGGAGTCACAGAAGGCTCCTACG TCCAGGCCACAGCTCTGGCCGGACCCCCTCACAGCATGTGTGTGGATCCC ACGGGCCAGCTGGAAGCTGGGCACCTTTCCTGACCAGGCGTGGAACATCA CTTGGTGTCCCTTCCACCGCACTGTGTTCATGAGAAGCCAGACACTGAGG CCAGCTCAAACTCAGGGAAAGGCAGTGAGACTCACACCTTTGAAGGGAAG GGCACCAAGGAGCCACATTCTACCTGCTTTGGCCACGTTGTCTGGCTTCT CCAGCCTCAGTCTCTTTGGCCATGACACCATAACGATGGGAGGGGTGAGT TAATAGACACCAAACAGAACTGCTGTAGCAACTGCCAAATGCCTTGCACA GAGGAGGAGTGTGGGGTGCCCATGATATTACTCTGCAAGTGACATTGCCT TCTAGGGCTTTAATCTCCCAGAAAGCCAGAGATGGAATATCTCAGTGCTT CTGAGCCTTTATTTTCAGCCCTACCCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG03225.hp1 HG03453.hp2 HG02602.hp1 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0001 a0001c0006t0001 a0001c0007t0001	a0001c0006t0001g0000 a0001c0007t0001g0000 a0001c0006t0001g0000 a0001c0007t0001g0000	3	314	0.0096	-1177	c.26 others(11): Show c.2646_*3822del	CEBPD	ENSG00000221869.5	transcript	ENST00000408965.4	protein_coding		3424		chr8	TogoVar
HSD17B14_chr19_48808018_48841491	48834468	GGGTCTGA others(1170): Show GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGC CTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAG GGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGA CTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTC CTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGAGGTCTGGACTCCTGGGTCTGAGAAAGTAGGGCCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGTGCCAGAGCCTGGACTCCTGGGTCTG AGGGAAGAGGGGCTGGGAGCCTGGACCCCTGGGTCTGAAGGAGGAGGGGT TGGGGACTTGGATTCCTGGGTCTGAGGGAGGAGGTGCCGGAGCCTGGACT TCTGGGTCTGAGGGAGGAGGGGCTGGGGACCTGGACTCCTGGGTCTGAGG GCAGAGGGGCTGGGGGCCTGGACTCCTA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0107 a0003c0006t0001g0107	1	387	0.0026	-1177	c.127 others(15): Show c.127+160_128-111del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
PDE10A_chr6_165322289_165668241	165494880	CAACACTA others(1170): Show CAACACTATCCATCTCAATTTGCCTTTCAGGCTGTAGTTATTTTAATATT TCTAAGTGAAGCACACGTATCTTCTCTTTATGGGAGATAAGTATTTCTAT GAACATTCATAAACCACTCATCTTTTTAATATATATCCGTATCTTAGGAG TTGAAGCAGCACATTCAGCCTCCCACCAGCCATTTCTAGCATCTCTAACA ATTATGCAATTTTAACAATTCATCCACAAGTATTTACCAAAAGTCTACTT CATGCCAGACACCGAATAAATGTCTCCAATCAGACTGAAGAAAATGACTT AAATTTCGTGGTTTTGAGAGAATCACAAACAAGAAAGCTTCTCAGACCTA GCCAGTGGTGGCAGCCACCCTGTAATAACAAGAGGCATCAACCTGAAATC AACAACAACACAGCAAGGAAGACAGAGGGGAGACAGGAGGGGAAAGAGAG AGAAGGAGAGGGGGTGGAGGGGAAAGGGAGAGAGAAAGGGACAGGAAGGA GAAAAAGAGGAAGGGAAAGAAATGAGAAATTGAGTCTTCAGAGACATTTC TAGCCAAATTAATCAGCCAACCTTGAAACCTGCCTTACTTAGGGACTTTT TTAATATGCAAGATAGCTAATTTCCCTATTAAGTCAATTTTACCAGGTAA AACTAAAAACACTCGAGTATTTTTTTAAATGCAACAAAGTGTTACAAGGA TATTACTTTTACATCATTAAATTAATACATTGTTATTTAAAATAAAATCT TGTAGAAAACTCTCATTCTTACAAAATAATAAATTCCTTTGCTCTAATCT GGTTTGACTCTATTTATCCAGCTGGAATCTACAATATATAAGACTCTTTT CACTCAAATAAGGCTGGTTTCACTAGACTCTCAAATATGTTTTGCTCACT ATTAACTCAAAATCCTTTTATCTTCAAATATTTACTGAGCACCTACTAAG TGCCTGTCAGAGTTCTTTATGCTTACAATATCTTGGAGAATAAAAAAGAT ACAATAATCCTTGTCTTCATGAAGCTGTATTCTAAATGCAGGTGACTGTC AATAAACTTGATAAATAACTATATCATACAGCGAGTTGGAAATGCTTGGT TGGGAGAATGCAGACCAGGATAAGGGGAATTGGAAGGCAATGTGGGAAGA GGATAGGGAGCAGGACGCAGTATAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0132 a0001c0005t0002g0132	1	220	0.0045	-1177	c.995 others(19): Show c.995-13714_995-12538del	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	2/21			chr6	TogoVar
PLEKHA4_chr19_48832097_48873617	48834468	GGGTCTGA others(1170): Show GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGC CTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAG GGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGA CTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTC CTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGG AGGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGAGGTCTGGACTCCTGGGTCTGAGAAAGTAGGGCCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGTGCCAGAGCCTGGACTCCTGGGTCTG AGGGAAGAGGGGCTGGGAGCCTGGACCCCTGGGTCTGAAGGAGGAGGGGT TGGGGACTTGGATTCCTGGGTCTGAGGGAGGAGGTGCCGGAGCCTGGACT TCTGGGTCTGAGGGAGGAGGGGCTGGGGACCTGGACTCCTGGGTCTGAGG GCAGAGGGGCTGGGGGCCTGGACTCCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	294	0.0034	-1177	c.16 others(11): Show c.1644_*2820del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2628		chr19	TogoVar
SPIDR_chr8_47255938_47741306	47733488	AATTGCAT others(1170): Show AATTGCATACTTTTACTCCAGAAGACCATAGGGTCATCTGTTTCACACTT GCACAAACATGCAAGACTAACTGAAACTCTAAGACACCAGAAGGGTGTCC AGCGCATATGCCGCCTCCACCCTCCCTCCCCGTGCGGTGACCCTGCTTCT GCTTCTGTATCCCCTGGTGTCCCCTCCAGTCCAGCAGCCTGGAGACTGTC CTGCTCACTGCCATCTCTTCAGTGACGGGCCCACATGGGATCATAATAAA CCCCATGTGTGAGCGAGTGAGCAGCTGCACTTGCCGTCCATGCCACCTCA GAGCCCTTGGGAAGGCCTCAGCTTCCATTACCAAGTTCCTTCTCTTTGCC TGTCTTGACCAGTGACACCCACTTCCCCCATCACTACATTAAACCATCCT GTTGACTTTATTCTTTTTCACCAAGGAAGCCAAAACTCTTGACAGAGCAC ACTGAATAGGCACCACGCCTGTCTTACAAATGGGAAAATCAAAGTCCCCC CACGAGTTGGCGTCAGTAGCGTTCACATCCCAGACTGATCCTGACATTTA TTTTTACAAAACAAACCATCTCAAAACTTGGTGGCATCAATATTCATTCT GTGCACAGAACTCTTGTTTGGACAGGGCTTCATCCGGATAGCTCCACTGG GCATTAGCGGGTGCCCCCAAGGCCGGTGGGAGTCACAGAAGGCTCCTACG TCCAGGCCACAGCTCTGGCCGGACCCCCTCACAGCATGTGTGTGGATCCC ACGGGCCAGCTGGAAGCTGGGCACCTTTCCTGACCAGGCGTGGAACATCA CTTGGTGTCCCTTCCACCGCACTGTGTTCATGAGAAGCCAGACACTGAGG CCAGCTCAAACTCAGGGAAAGGCAGTGAGACTCACACCTTTGAAGGGAAG GGCACCAAGGAGCCACATTCTACCTGCTTTGGCCACGTTGTCTGGCTTCT CCAGCCTCAGTCTCTTTGGCCATGACACCATAACGATGGGAGGGGTGAGT TAATAGACACCAAACAGAACTGCTGTAGCAACTGCCAAATGCCTTGCACA GAGGAGGAGTGTGGGGTGCCCATGATATTACTCTGCAAGTGACATTGCCT TCTAGGGCTTTAATCTCCCAGAAAGCCAGAGATGGAATATCTCAGTGCTT CTGAGCCTTTATTTTCAGCCCTACCCGC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03225.hp2 HG03453.hp2 others(1): Show HG02602.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004	4	214	0.0187	-1177	c.260 others(18): Show c.2605-1817_2605-641del	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
TAF4_chr20_61969798_62070881	62057603	CCAGCAAG others(1170): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGAC AATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACAC AGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGC AAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAAT GGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGG CCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAG ACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGG GCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTA CACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACC TCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCT CGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGG CCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGG CCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGG ACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCC AACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCC ACAGACAATGGGGCTCGGGGGCCAACCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02622.hp2 others(2): Show HG02145.hp1 HG02258.hp2 HG02622.hp2 HG02922.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0071 a0001c0003t0001g0059 a0001c0003t0001g0060 others(2): Show a0001c0001t0001g0071 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0005t0001g0218	5	224	0.0223	-1177	c.136 others(19): Show c.1360+5671_1360+6847del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
ZNF516_chr18_76352682_76500242	76393521	CAGGTGGT others(1170): Show CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT AGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	342	0.0029	-1177	c.181 others(21): Show c.1811-14395_1811-13219del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
BAZ2B_chr2_159313979_159621548	159434202	CCAGGCTG others(1169): Show CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTC CTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCATGCACCACCATGCCTAGGTAATTTTTGTATTTTTAGTGGAGATGG GGTTGCACCATGTTGGCCAGGATAGTCTCGATCTCTTGACCTCGTGATCC ACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCG CCCGGCCAAGTCAAACAATTCTAAGTTGGTGACTATATGTACTCTTATGC CATACCACCTTTAGTATACATAGAATATGCCTATATGACTTATACCTCTA AGGAGATAACTTAACATCTTTGATAAATTCCTCAGGGTAGAAACACTCAT TTATTCACCTTTATGGTCTTCCTAAGACATTGCTCAGAACCCTGTGCTTG ATATGTACTCAAAAAACAATTTTAGGTTGCTGAATGAATAACTTCCTGAG CAAGAACTTCTTTGAAGCAAAGATTTAAGATACTAAGCTGGTGGAAATGG ACATTCAACATTCTGTGGGATCTACTTTAGTGTGCCTTTGCACAGTAATA TTCCCGAGTAAACAATTTAGAAAAATACAATTTTCTTGGAAAAGATTATA AACTATTAAGCCATAAAATTTATGTCTATAAACAAAAACTTATTTAACTA TTAGAATCCCCTTGAAAACAACACAATCATGAATTTTATTAAGCTACTAT AATTAAAATATTACATAAAAATTAACAGCAGCAGAATTATTAAAATCCTT TGAGTTAACAGAAGGAGCTGAATTTCTTAATCTAAGGTAAAATTCTGCAT TGAAAATGATTGCCTTGAAATTAAAATCAGTAGTGTTGTCAGCATCAGAC CTGGGCTCCTAACACTAAAATCAGCAAAGATTTGTGATGGAGATTTCACA AGTGTAAATGCTGATGGAATGTTATATAAAATACTTATAAATATTTTATT ATTATTATTTTTTTGGACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGA TCTTGGCTCGCAGCAACCCCCACCTCCCGGGTTCAAGCCTGCCTCAGATT CCTGAGTAGCTGAGACTATGGGCACGTGCCACCATACCTGGCTAATGTTT TTGTTTTTTTTAGTTTTTTTTTTGAGA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01978.hp2 HG01106.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0001g0040 a0001c0001t0001g0064	2	214	0.0093	-1176	c.129 others(18): Show c.1294-2015_1294-840del	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	8/36			chr2	TogoVar
DPH7_chr9_137549444_137583925	137565308	ACTGTCTG others(1169): Show ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	273	0.0037	-1176	c.641 others(16): Show c.641-1330_641-155del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
FRMPD4_chrX_12133473_12729523	12621980	AAGAAAGA others(1169): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAGG AAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGAG AGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAAGA ATACAATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAATT ATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCAGT TAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATACAG GTCCTATGAGATACCATCAATTGAATGAATATATGCATTATGGGAATATT AGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAATGG CTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATACAA ATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACATT ATAACCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTAAG AGATATCATTTGAGATATATAAATTACATGAAAAATAATACAAAATAATC ACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAAAA ACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACAGG TCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAAGG CAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACATG GCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATCTG TAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCAGG AGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTGGG CAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAAA GGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGTG AAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAAGA AAGAGAGAGAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01081.hp1 others(10): Show HG00621.hp1 HG00642.hp1 HG01081.hp1 HG01255.hp1 HG02027.hp1 HG02559.hp2 HG02602.hp1 HG03710.hp1 HG04204.hp1 NA18970.hp1 NA18975.hp1 NA19012.hp1 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0008t0002 a0002c0003t0003	a0001c0001t0001g0057 a0001c0001t0001g0090 a0001c0001t0002g0094 others(10): Show a0001c0001t0001g0057 a0001c0001t0001g0090 a0001c0001t0002g0094 a0001c0001t0002g0131 a0001c0001t0002g0153 a0001c0002t0001g0064 a0001c0002t0001g0079 a0001c0002t0001g0092 a0001c0002t0001g0148 a0001c0002t0001g0165 a0001c0008t0002g0033 a0002c0003t0003g0043 a0002c0003t0003g0053	13	174	0.0747	-1176	c.422 others(17): Show c.422+7138_422+8313del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12622027	GAAGGAAG others(1169): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGA AGGAAAGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAG GAGAGGAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAA AGAATACAATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCA ATTATGCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCC AGTTAGAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATA CAGGTCCTATGAGATACCATCAATTGAATGAATATATGCATTATGGGAAT ATTAGAAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAA TGGCTGAAACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATA CAAATCAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACAC ATTATAACCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCT AAGAGATATCATTTGAGATATATAAATTACATGAAAAATAATACAAAATA ATCACCTTAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGA AAAACAAAAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATAC AGGTCAGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCA AGGCAGGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAAC ATGGCAAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAAT CTGTAGTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCC AGGAGGCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCT GGGCAACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAA AAAGGAAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAA GTGAAGGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAA AGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG04228.hp1 NA18747.hp1 others(2): Show HG01081.hp2 HG04228.hp1 NA18747.hp1 NA19070.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0011 a0001c0001t0002g0100 a0001c0002t0001g0070 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0100 a0001c0002t0001g0070 a0001c0002t0002g0074 a0001c0002t0002g0120	5	174	0.0287	-1176	c.422 others(17): Show c.422+7181_422+8356del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAD1L1_chr7_1810795_2237945	1991000	CGAGCACC others(1169): Show CGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTG GCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCA CTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGA GCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACC TGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTG AGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGG TGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCC GCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGC TGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAG CGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCT CACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGC TGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGC CACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCA GAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCC CCACCAGAGCGCCACTGCTGGCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18981.hp2 HG01433.hp1 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0053 a0002c0002t0002g0002 a0002c0002t0001g0053 a0002c0002t0002g0002	2	262	0.0076	-1176	c.141 others(20): Show c.1416+9889_1417-10460del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
SLURP2_chr8_142759338_142774828	142759925	GTCACGCA others(1169): Show GTCACGCACCATCCAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTC TCACGCACCATACAATCCACCCGTTTACAGTGGCTAATTCAGTGGTTTCT CACGCAGCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTTTC ACGTACCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTCTCA CGCAGCATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCAC GTACCATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTTTCACG CACCATACAATCCACCCATTTACAGTGGGTAACTCAGTGGTTTGTCACGC ACCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTGTCACGCA CCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTTTCACGTAC CATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTCTCACGCAGC ATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCAGCA TACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCAT CCAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCACGCACCATC CAATCCACCCGTTTACAGTGGTTAATTCAGTGGTTTGTCACGCACCATCC AATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACA ATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCACGCAGCATACAA TCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACAAT CCACCCGTTTACAGTGGCTAATTCAGTGGTTTCTCACGCACCATACAATC CACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCATGCAGCATACAATCC ACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACAATCCA CCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACAATCCAC CCGTTTACAGTGGCTAATTCAGTGGTTTCTCACGCACCATACAATCCACC CGTTTACAGTGGGTAATTCAGTGGTTTGTCATGCAGCATACAATCCACCC GTTTACAGTGGGTAATTCAGTGGTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	424	0.0024	-1176	c.35 others(11): Show c.3504_*4679del	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		4412		chr8	TogoVar
SMYD3_chr1_245744347_246512279	245975753	GGCCCAGG others(1169): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCT CTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCT AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCA TCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CTAGCCTAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	126	0.0079	-1176	c.532 others(19): Show c.532-46992_532-45817del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
DIP2C_chr10_269201_694668	322120	GGGGCTCC others(1168): Show GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTC CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCC GGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGA GAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGA GACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAG ACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGA CCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGAC CAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACC GGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCG GCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCAG TGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGGCGAGAGACCGGC GTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCG TTGTTAGAACAGTCAGTCGGGGGTGC	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	87	0.0115	-1175	c.392 others(19): Show c.3924+3711_3924+4885del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
FRMPD4_chrX_12133473_12729523	12621982	GAAAGAAA others(1168): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAGGAA AGAAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGAGAG GAGAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAAGAAT ACAATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAATTAT GCAGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCAGTTA GAGGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATACAGGT CCTATGAGATACCATCAATTGAATGAATATATGCATTATGGGAATATTAG AAGGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAATGGCT GAAACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATACAAAT CAAAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACATTAT AACCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTAAGAG ATATCATTTGAGATATATAAATTACATGAAAAATAATACAAAATAATCAC CTTAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAAAAAC AAAAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACAGGTC AGGCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAAGGCA GGCAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACATGGC AAAACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATCTGTA GTCCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCAGGAG GCAGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTGGGCA ACATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAAAGG AAAGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGTGAA GGGAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAAGAAA GAGAGAGAGAGAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	174	0.0057	-1175	c.422 others(17): Show c.422+7102_422+8276del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16			chrX	TogoVar
SKP2_chr5_36147111_36189319	36174917	GATGGCCA others(1168): Show GATGGCCAAGGGCTGTCTAAGCCAAGGCAAAAGCTTTGAATTTTTCCTAA GTGACATGGGATATGGGAAGCCATTGGAGTATTTCGAGCAGAGCAATATG ACTGACTTCATTTTAAAAGACTCACGCTAGTGCTGTGTTGAGAAAAGGCT GTAGCGGGGAAGTATGAAGCAGGGAGACCAGTTAGCAGACTAGGCTGGTG ACACTTAAGGTGGTAAGAAATGATCAGATTTGGGCACATTTTAAAAACCA ACATCATGAGATTTGGTGACACAATGAACGTGGGATGTGAGAAAAATAGT CCACTATGATTTCAAGGGTTTTGGCTGAAGCCACTGGATTCGTGAAATTA TCACTTGCTGAGATGGGAAAGAGTTTAGGGAAGGAGGAAATTTGGGGGAG AAATTGAGTATTTGATTTTAGACATAAATTTAGAGGCCTATCTCATATCC AAACGGTATGTTGAGGAGGCAGTTGAAAATGCAAGTCCAGAATTTAGGAG AGGGGATATACTTGTGAGACGAAAAAACCCTCAAATGTTAATGAAGTTTG CCTGTTGTTCTAAATAAGTAACATTTATTGATTCATTTTCTGATTGCCAA GTAGCTTACATGACTTTCTTCCAAATTCTGAAAAGTTGCCTGTAATCCAA ACACCCTTGAATACTGCAGTTAACATTTTGGATGTATTTCCTTGCAGCCT TTTTTTTTTCTTCTCTCTTTCTTTCTGTGTATGTGTTTGTGTGTAAATGT GAGTTTGAGTGTGTTTTGACCAAGTTGAAATTATAACGCATTGTATATAT TTTGTTTACAAGCTATCCTAGTATTTTTTTAAATGTATGAAATGTTATCA GAAAGCGTTTTCATAATGATTAGCAGTGTATTTCACGGAATGGATGAGGT TAACATATTAAACTAACTGGAGGAGGGGCTAATATAACTGTTGCCACATT GAATATATTCATACACATCTATATTTTTCTAAAAGTGGAATTACTGGGCC AAAAGTAAACTGTATAATTCTCTGAATTCTTTAAAAAAAAAAGAAAATCA GTTCACTATCCAAAAAAAGCAGGAATCAGTTCACTATCCAAAAAACGCAG GGTTCAGGCTCCTGAAAGCCTGCAAATAAAATTAAATATCTACCTGTGGT ACATGGAAGACCTACTTTATGGTAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0103 a0001c0001t0027g0103	1	400	0.0025	-1175	c.902 others(16): Show c.902-2047_902-873del	SKP2	ENSG00000145604.17	transcript	ENST00000274255.11	protein_coding	7/9			chr5	TogoVar
CHD8_chr14_21380199_21461123	21452864	GTCCCAGC others(1167): Show GTCCCAGCTACTCGGAAGGCTGAGGCAGAAGAATCACTTGAACTGGGAGG CAGAGCTTTCAGTGAGCAAAGATCGCACCACTGCATTCCTGCCTGGGTGA CACAGCGAGACTCCATCTCAAAAAAAAAAAAAGAAAACAAAAAACAAAGA AATACAACTGTCAGGCTGGGTGTGGTGGCCCACACCTGTAATCCCAGCAC TTCGGGAGGCCAAGGTGGGTGGATCACTTGAGCCGAGGAGTTCAAGACCA GCTGGGGCAAGATGGCAAGACCCCGTCTCTTAAGAAAGAAAGAAAGACAA CTCTCATTTGGGTGCTAGGTACCAAAGAAAGACCACATCTTGAAAATTAG ATACCCTAAAAGGTTTCAATTTTCACGAGGTCAGGAGTTAAAGACCAGCC TGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATACAGAAATTACATT CCCTAAAAGGTTTCAGCTAAACAGAAGCAAAAGTGTACAACGTCAGTGAA TTAAGTGAAAAGGAAAGTGAGCAAAATCACAGGAAGATGAAAAGATCACC AACTTGGTGAGACAAAAGAATAAAAGATCATAGATCATGTAAGAGGGGAT ATAAAAAGTTAAAGTGAGATAAGAAACATGATAGTCTGTCAATGAATCAA ATGCTAAAGGTAAAATAGTAAATATTATACCACAATGGTCACAGTAATGT AAGGACAGGTCATGCGAAGACCTGCAGATCAAGGACTGGCTCAAATCCAA CTCCAGAAGTAGAGAGATTCTAGAGGTGAAAGTGGAGACTCGAGAGAAAT GTTTGTCTTCTGTTTTCCTCCCAAGTATTAGGCTCAATGTAAGCTCAGAA GATAGCTTAACTCTTCCAGAGCTGTAGACAAACAGTTCACTAAAGCATTT AGCATTCATCTGAATGTTACAGTCCTTTCACATATGAGAATATCAAATCT TATTTCTTCAGTAAGCAAACACAGTTTTGACACCCACAACTTAATCTTAA GTGGTAATTTTGCTTAGAAAAGTGGCTCATGCCTGTAATCCCAGCACTTC GGGAGGCCGAGGCGGGAGGATCACGAGGTCAGAAGTTCAAGACCAGCCTA GCCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAAAAAAAAATTAGC CAAGCATGGTGGCGGGCGCCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 NA18906.hp2 others(1): Show HG02055.hp2 HG02809.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 others(1): Show a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0038	4	258	0.0155	-1174	c.-21 others(19): Show c.-216+1994_-216+3167del	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
SLC16A9_chr10_59645764_59714850	59691181	CGTTTTGG others(1167): Show CGTTTTGGAGTCTTATTCAAATGTATGAAAATGTGTTTCTAAGAAATAGA TATTGTACTACATTCTAGTAAACTATTTGAGAATTTGGAATCTCCTTCAA CCAGAGTGTTAACAAACCAGGACTCTGAGTGACCAGACACCTTATAAAAC TCAAAATTAGAAACCATTTTGAGAGATCATTTGAAGAACACTAATTTAGG GGCAGTTTTTTTATACTACAGGGTTTAAAGAAGTTTCACAGAATTAATTT GAATTTGAACTTGAACTTGTAAGCATCTTTCTTAACTTTAACTTAAAAAA ATTAAATACAGTACATGTATTATGAGCCTCCCTTGGAGGAGAGAGAAGAG CATGAAATAATATTAACCATAAGAAGATATCACTATTCAACAAAATTAGA TTATCATTAGTAGAAAGGATAGTATATCTCCTAAAGCCAGAACCTGTTTT GTTTAAGGGGAAAGGAGAGTTGGCAAGTTCTAATCCCTTCCTTCGGGAAA CGAAAAAGACTATTGATGAAAGACTACATTTCATTCACAATAAAGCTTTA AGTTCCAGCACCTTCGATTATGTTTAGTTCTGCTCAAATAATGCCAATCC TTTGTTTCTTCAACTCTTTACATTGGCTGAAAATTTCTGCTCTGGATATA GGCTGTCAGAACTGCAGGTGTGACATTTAAGAACACTGAGTATTTCTATC CCTGAAATGTATACATATGCACTATACTAATTTTTGCCAAATACAAAGTG ATTTACAAGTATTTAATCTTATTTTCAGCTGACAGTTTCCTGTTGCCTTT GCTCCCTTCCCCAAAATTATCTTTCCCTAATAACCCCCATTTGAGCATTG TCTATAAACATCTCCTTAAAGATTCATAGATAGACTTTTCACTTGAAATA TAAAAGGAGGTCAACAGTAGCACATTTTTATTTGAATCTCAATCACTACC GGATTGTCTGGTGCTGAAGCACTTTAAGAGCCTAGAATCCTGTGACTTTA TCTTGGGAAAAAAATGGTTGATTCCAGGTTGATTTTGCCTTGATCTAGTT ATCTGTGAGGTGAATCAAAAATCTAAATCATGCTGGGTTCCATGACCTTC CTACAGTTACATTTATGACACTTTAAGGCTATAAACCATGGGCGAGGAGG TGGACTGAAACCCTCACATGCTGCT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18994.hp2 NA18995.hp2 others(2): Show NA18982.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0002c0002t0001	a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0008g0116 others(2): Show a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0008g0116 a0001c0001t0010g0261 a0002c0002t0001g0119	5	350	0.0143	-1174	c.-36 others(17): Show c.-36-8028_-36-6855del	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
DCAF6_chr1_167931683_168080836	168055321	TCAGGCTT others(1166): Show TCAGGCTTAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAACGAAGAAG TATTTTATTATTTTGCTGCAAAGCTGTTGCTTCACTGTATAAAAATAGCA CCAGCAAATGCAGTGTATCGCAAAATTAAGATAGTGGTGTTCCTCATCTG ACACTGTACAAGCAACAAAACCTCTTCACTTCCAGTTATTTCCAATGGAA AGATCATTAAGTATTTCATCCCAAATCCAGGTATGGATACATGCAAGTTA CAATATTATATAAGGCTTAAGAATAACAATGTTATCTTTGAATTATGTAA TTTTTATAACTAGTTTTTACCATGGATAATTTCATGAATTCTGAACACTA GAGCCTAGTCTAAAAATCATAGGATATTGTGAAAAAGACGCATATTATAT TTATCTATAATCATTAGAAAGTTAAAGGGCATTTTCTTTCATTAGCAGTG TTAACAGTAGTTTTTTTTTCCCCATCGGTAATACTAAAAGTTTCTATTCT AAGTCTTCTATCCACCACTAATTTAAGACAACTCTGCTGGCTTGCGTTAT TTCATACTAGTTTATTTAGGAGTTCCATTTTCACTCCTCAATAGATTTTA TGTATTTCTCATATGCTTCTTCACTCATAAGTTCATCTAGTTCTGAAGGG TTACTCAGTGTCATCTTGATCAGCCAACCATCTTCATAACAAGATTTGTT TACAAGTCCTGGATTTTCTGCAAGAGCTTCATTAATTTCAGTTACTTCTC CTGATAAAGGAGAATAGAGTTCACTAGCAGCTTTCACACTTTCCAAAGCA CCAAACTCATCTTGTTTGTTCAATTTTGTCCCAACTTCAGGGAGACTACA ATAAACAACATCTCCCAACGCTTCCTGTGCAAAATTGCTGATTCCCACTG TTCCAATGCCATTTTCTGTTGTTACCCATTCGTGTTTCTCTGTGAATTTA CGCACCGAGAGCAGAGCGGGTCCAGTGCGTAGCGTACGGACGGCGCCCAC CCCCAGCTGCCAGGGCCTCGGCGGGCAGGGCGCGGCGGGTGACGGGACCG CGCGCAGGGTGCAGAGCAGGGCCCGCACGCTCCGCACCACTCGCAGCGCC ATGTTCGCAGGGGTGCGGGGGTCGCAGCGCTACGCCTCGGCCACCCGCGC CGGGAGGCGGGGCGGGGAGGGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(145): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp1 NA19001.hp1 NA19006.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19075.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0005c0008 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0003c0005t0001 a0005c0008t0005 a0006c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(144): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0027 a0001c0002t0001g0143 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0265 a0001c0002t0004g0207 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0138 a0003c0005t0001g0001 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0005c0008t0005g0159 a0006c0007t0001g0205	148	264	0.5606	-1173	c.230 others(19): Show c.2300+4404_2300+5576del	DCAF6	ENSG00000143164.16	transcript	ENST00000367840.4	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2L1_chr22_21637302_21649299	21645017	GTGATCTG others(1166): Show GTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCAGGCCGGTTTTGCTTTTTTAGAGATGGTCTCACTCCGTTGC CCAGTCTGGAGTGCAGTGGCATGATCATAGCTCACTGTAAACTTGAACTC CTGGGCTCAAGTGATCTTTCCACTTCAGCCTCCTGACTAGCTGGGACTAC AGGCACACACCACCATGCCCATCTAATTATTATTTCTGATGAGACAGGAT CTTGCTCTGTCATCCAGGCTGGTGTACTGGCAGTGATCATAGCTCACCGC ATTCTGGGCTCAAGTGATTTTCCCACCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCATGTGCCACCATGCCTGGCTAATTTTTTTTTTTTTGAGATGGC GTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGACACAATCTCCGCTCACT GCAGATTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGA GTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATGTTTGCATT TTTAGTAGAGATGGGGTTTCATGATGTTGGCCAGGCTGGTCTCGAACTCC CAGCCTCAGGTGATCTGCCCACCTCGCCCTCCCAAAGTGCTGGGATTATA GGCATGAGCCACCGTGTCTGCCCTCTCTGGCTAATTTTTAAAATTGTTTT AGTAGAGACAAGGTCTCACTGTGCTGCCCTGGTGGGTCTCAAATTCCTGA GCTCAAATGATCCTTCCACCTCTGCCCCCATAAAGTGCTGGGATTACAGT TGTATTACTTTTATTTTGAGACAGGGTCTTACTGTTTTGTCCTGGCTGGA CTCGAACTGCATGGCTCAAGCCTCCTCCTGCCTCAGTCTCTCAAGTGGCT GGGATTACAGGTGGATGCCACTGTGCAATCTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACACCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAAGCACCTGCCACCACGCCTGG CTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTGGATCTCCTGACCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02976.hp1 HG03471.hp2 others(1): Show HG02970.hp2 HG02976.hp1 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	4	428	0.0093	-1173	c.84 others(10): Show c.843_*2015del	SDF2L1	ENSG00000128228.5	transcript	ENST00000248958.5	protein_coding		719		chr22	TogoVar
TAF1B_chr2_9838474_9939416	9936495	AATCACCT others(1166): Show AATCACCTGCAGACTGCCTATAGCTTTAACAGTCTCTGTCTCCCCTTCTT CACATCCTTCCGGTGGAGAAAAGTTTGTGAATATTAAGTAAATTTGATTC AATAGACATTTTATTTTTTTGTAAAGATGATGGGGTCTTGCTATGCTGCT CAGGATGGTCTTGAACTCGTGACCTCAGGTGATCCTCCCACCTCTGTCTC CCAAAGTGCTGGAATTACAGATGTGAGCCACTGCGCCCAGCCTGGTTTGG TAGTTTCTTAAAAGTGAAAATTAGACCTACCATGTGACCCAGCCATTCCA CTACTAGGTGTCTACCCAAGAAAAATAAAAGCATGTTTCCACACAAAGAC TTGTATACAAATATTCATAGCAACTTTATTTGGAATAGCAAAAAAAAGGG AAAACAACCCAAACAGCCATCAGCAGGTGAATGGATAAACACATGGTGGA TATCCATACAATGAAACACTGCTCAGCTGTGAAAAAGGAACAAACTATTG AAACAATATCCCTGTTCAGGAGCAGGATTTGGAGAATATAAGAAGCATAT CTTTTATAATTTAAAAACTTGCTTTCTAAGATTTGAACTGAAAGATCTTT TTTGAAGATGAGTGTCATGGAATTGACATGATTTGAAGTGTTATGGCACT TCCTTTGAATAAAAAAATCAAAGTTGCTAACAAGTTCCATGTACTTAAAA ATATTGGGACAGAGCGCTCAAAGCTATGAAAAGTTTTGGGCCACCCATGA ATATGAGATAAGATTAACAAGAGAGGAGAAGGAAGTGAAAAATATGGCTT TCCATGCATTTCCAATTGTATGAATTACCATTGAAGGCTAGTGATGAAAT GTTACTCTCTAGGAGTCAGTGTTTTCACATCTAAAAATGGTATCAGTCAT AGAAAAAGCTTATCTGTCTACTGCCAAAAAGGGAAGAGGGTAATAGCACG TATTGAGCACCTACTGTATATTCAGATGAGGTCCTGCCATACGAAATTCA GTCCCCACTGTTCTGGGGGCCATGCAATCGTCTTTAGATAATAGGTGTGG GGCTAGGGGTTCCGCTGTGAAGTTACCTTCCTTCCCAGGGTGCTCAGCCA GCACAAAGCTGTGGTGAGATTTGGGTCCAGGTCTCAGACTCCAGATTCCA AACCACATTTAAAAAAATAAAATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02717.hp2 HG01496.hp1 HG02717.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0339 a0005c0007t0001g0340 a0005c0007t0001g0339 a0005c0007t0001g0340	2	372	0.0054	-1173	c.25 others(11): Show c.2512_*3684del	TAF1B	ENSG00000115750.17	transcript	ENST00000263663.10	protein_coding		2080		chr2	TogoVar
CA10_chr17_51625320_52163714	51820574	TTTCCACT others(1165): Show TTTCCACTTATACCTGAAGACTACTTAATACCAAGCTACTTTAATAGGGC AGAAAAGCACAGAGCTTAGAGTCAGAAGACCTAAGTTTGACTCCCGATTC TGTTATCTATTGGCTGTGACCTTTGGCAATTGGCTCTAGATTCTTGAGCT TCAATTTTCTCATTTGTAAAATGGGCATACTAGTATCTACTCATTTAGAG CACGTCCCAGAATTAGTGTGAGGGTTATGTTAGATAATACATTGCATCTA ACTTGTACATCAGTTATTATTCTTACCACAAACTGGATGCAGAAGTGTTT CTTTTTGGTAGAATAACTGAGCAGTGATTTATTTTGGATAGCAAATCCAG TAGAAATCTTGAGGATTGTTACCCCAGGTGGAACTCCTTAGTAGAAGAGC TGTAGCTGATTAATTTCTTCAAAGATCCATGCTCCCTCCCTCCCTTAATT CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCC TTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTTCCTTCCTCCCT TCCCTCCCTCCCTCCCTCCCAATATTTATTGTGCAATGCCAGGTACTAGA TGCTAAGTGCTGGATATTCAGGTGCTAGATGCTGGGTAGATGAAACCAAA TGAAAAAGCTCCTTCCCTTCATGGGAGCCCACAGTTAAAAAGGAAATAGA GACAGGTGAATCCCTAACCACCTTGAAGTAGGCCAAGTGCCATGGACAGG TGGAAAGAGGGAAAGTCAATATTGAACGACCATCCACTAAACCTTGGAAT CATCACTGACTCCTCAGTTTCTCTTATATCTTGCAGTCCATCTATCTGCA AATCATGCCAGCTTTACTCTCAAATACATCATGAATCTGATCATTTGTCG TCTCCCCGCAGCTGCTCCCTTGGTCCAAATGATTACCAGCTCTCCCCAGA ACTAATTTGAATAGCCTCCTAATTGGCTTTCCTGCTTTTACATTCACTCC CATCCAGTCTAGTCTACATCCAGGGGTCAGGAAGAACTTGTAAAAACTGA AGTCAGAACATGTCACTCCTCTGCTCAGAGCTCCTCAGTGGCTTCTCATT TCACTCAGTGTAAAATCTGAAGTCCTCACAAGGTTCTGGATAATCTGGTC CTGGATACTCTCTGCTCTCTACC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0043 a0001c0001t0002g0044	2	154	0.0130	-1172	c.280 others(19): Show c.280-73928_280-72757del	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
DHRS12_chr13_51762993_51809163	51774680	TCTACAGT others(1165): Show TCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTC CTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTAT TCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTC TCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATT CTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTAT TCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTC CTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTC CTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTAT TCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTC TCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCT ACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATT CTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATT CTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTAT TCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCCTACAGTAC ATGTATTCTCCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp2 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0087 a0001c0001t0004g0068 a0001c0001t0003g0087 a0001c0001t0004g0068	2	402	0.0050	-1172	c.363 others(16): Show c.363+1208_364-647del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
FBXL12_chr19_9805270_9824079	9819398	GGGGCTGG others(1165): Show GGGGCTGGGGCGCGGCTAGGGGGCGGGGCTAGAGACGAGGACCAAGTCCA GAAGGCGTGGCTGGGGTGGGGCGAGGATCAAGCCCGGAAGGCGCGGCTGG AGCGGGGCGAGGCCTAGGTGGGGCTGCAGACGAGAACCACGCCTTGGAGG CGTGGCTAGGGCGGGTAGAGGCTCGGACAACCGCTGGAAGGCGGGGCTGG GGCGGGGCGAGACCTTGGGGGCGGGGTTGACGACGAGGACCTAGCCGAGA GGTCGTGGTCTGGACGGAAACCAGGCTGCAGCAGGACCAGGCGCCAAGGG CGTGGCTGGGGAGCGATGGAGACGCTCGGAAGGTGGGGAGCGGGGGACGG AGACAGGGAGAAGACTACGCCATGAAGGCGTGGTTGAGGCGGGGCGAGGC CTGTGGGTCTGGCCCCGAGCGAATGGCTTGGTAGAGAGTCAGAGAACTCT ATTTTTTTACTTAATGATGCTTCTTGATGTCTATGCACAAGGATAAATTT GTATTACTGGAATATCGTGGCCAAAGGACCTGTTGAATTTTTCACTTTCA TTGATACTACAGATATTTTCTGAATTGGCAAGTCCACCAAGAAACTATAA AAATGTGTGTGTGCAATGGCTGCACACAGCAGCTTCCTTGGTAGTGTACG CAGCCTGTTGGTTGTATGGGTTGCTCTAAGGGACCTTGGAGACAGGCCTT TCCGATGGATGTTCATGTTTCTAACCTTGCACTACCACAATGTAGGCTCC AAACAGGCATGTGAGGTGCCTTTGGAAAGCCCCAGGGCACTGTGGCCAGG GTTGACATTGGCCAAGTTATCATGTCCATCCGCACCAAGCTGCAGAACAA GGAGCATGCGATTGAGGCCTTGCGCAGGGCCAAGTTCAAGTTTCCTGGCC GCCAGAAGATCTACATCTCAAAGAAGTGGGGCTTCACCAAGTTCAATGCT GATGAATTTGAAGACATGGTGGCTGAGAAGCGGCTCATCCCAGATGGCTG TGGGGTCAAGTACATCCCCAATCGTGGCCCTCTGGACAAGTGGCTGGCCC TGCACTCATGAGGGCTTCCAATGTGCTGCCCCCCCTATTAATACTCACCA ATAAATTCTACTTCCTGTCCAAAAAAAAAAATGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02129.hp2 HG00438.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0082 a0001c0001t0001g0001 a0001c0001t0001g0082	2	336	0.0060	-1172	c.-17 others(10): Show c.-1757_-586del	FBXL12	ENSG00000127452.9	transcript	ENST00000247977.9	protein_coding		320		chr19	TogoVar
FRMPD4_chrX_12133473_12729523	12621984	AAGAAAGA others(1165): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAAGAAAGAAGGAAAG AAGAAGAAAAGAGGAGAAGAGAGGAGAGGAAAGGAGAGGAGAGGAGAGGA GAGGTGAACTATAAAAAGAACCAAACAGAAATCCTGGAGCTAAAGAATAC AATGACAAAACTAAACATTTTAATAGCTTCAACAGCAGACTCAATTATGC AGAAGAATCAGCAAATGTGAAGACAGGCTATTTGAAATTACCCAGTTAGA GGAACAGAAAGTAAAAAGAATAAAAAAGAGTAAAGGAAGCATACAGGTCC TATGAGATACCATCAATTGAATGAATATATGCATTATGGGAATATTAGAA GGAGAAAAGGAAAAAAGGGGAAAAAGCTTATTTAAAGAAATAATGGCTGA AACGTCCTAAATCTTGGAAGGGATATGGACATCCAGATTTATACAAATCA AAGGGTCTCAAGCAGAATCAATCCAAAGACTACTCTAAGACACATTATAA CCAAATTTTTAAAAGCCAAACACAGACATAGAATATTGCCCCTAAGAGAT ATCATTTGAGATATATAAATTACATGAAAAATAATACAAAATAATCACCT TAATGAAGCTCAGTGGGATACAAGAGAACACAGACCACCAAGAAAAACAA AAAGCAATACATAAACAAAATAAAAAGTTTAATAAAGAAATACAGGTCAG GCGTGGTGATTCACATTTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGG CAGATGGCTTTGAGCCCAAAAGTTCAAGACTAGCCTGGGCAACATGGCAA AACCCCATCTCTACAAAAATTAGCCAGATGTGGTGGCCCGAATCTGTAGT CCCAGCAACTTGGGAGGCTGAGGTGGGAGGATGACTTGAGCCCAGGAGGC AGAGGTTTCAGTGAGCCAAGATCACACCACTGCACTGTAGCCTGGGCAAC ATAGCCAGACCCTGTTTCAAAAAAAGAAAAGAAAAGAAAGGAAAAAGGAA AGGAAGTAATAAGGAAAGGAAAAAGGAAAGGAAGGGAAGGGAAGTGAAGG GAAGGGAAGTGAAGGGAAGGGAAAGGAAGGGAGGAAGAAAGAAAGAAAGA GAGAGAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp1 HG02071.hp1 others(2): Show HG01099.hp1 HG01261.hp1 HG02071.hp1 HG03491.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0080 a0001c0001t0002g0096 a0001c0002t0001g0119 others(2): Show a0001c0001t0002g0080 a0001c0001t0002g0096 a0001c0002t0001g0119 a0001c0002t0001g0137 a0001c0002t0001g0147	5	174	0.0287	-1172	c.422 others(17): Show c.422+7138_422+8309del	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	4/16		INFO_REALIGN_3_PRIME	chrX	TogoVar

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