Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
VPS50_chr7_93227366_93366123	93365006	GGAAGGAT others(1110): Show GGAAGGATTTGTAGAGGCACCTGTTTCTACTACAAAGCCACAGCTGGACT CTGAACAGGTGGTGTTCAAGAACATCTCTTTTAGCTTTTAAGATGAAAAT ATGGAGTTATTAAGCTGGAGTTATTCTGAAATTTCCACAAAGCTCAACAC AAAAAAGGCTATTATAATTCTTTTCCTAATAGAATGCATCAGGATGATTG AATTCATCAGTCAGAATTACTAGGGGAGGAGATGGTTGGAAAAGTGACTT AAAAACAGGCACAGGGCACAACTTTTTTTTTTTTATGTTCCTTATAAAGC AAATTCTAAGAACTACACTTTCTGAGAACTTTCAAAGATCTATCCTTTCT CAAAAGAATATGTGTCCAATTTAATTTTGTCTTGCAGACAGCCTACAAAG CAAGCCTGCTCCCATGACCTGTCCCCTCTGTATGGATGCCATCTGCCAGC TCCTCCCAGCAGTTCTTTGCTGCCACTACCTCTTTAATGGCCTCCGTTTC TCTATCCACATTCACCCAGGAATCTTCTCAGTGATGGCTTCCTGCCAGCA GCATCAATTCCCCAGCCTACCACTTATACCACATTCCAAGCTCTTCATGC TATGTTATCTTGGATATATTACCTTGGCTTGTCTCCTGTGCAAGGGGCTA TCCACCACATTTATGTGTCTCCCACAACACTCAAGTCAGCACTGAACAAT TAGTCACAATAAACTTAGTGTATAACATTCACCAAGTATGCCTTAAATGA TTTACCTTTATACATTTAATTCTAACAAATCTGTATAGTAGCCAGCATTA TTATTACCCCTACTCTCTACAAATGAGGAAATTATATAATCCATTTAATT TCTGTGTAACTCAGTAAGTGAAGGAGGTGGATTTGACTCAGCCAACAATC TACCATGGTTCCATAGCCTGTGTATTTATCTATTACCCTAGAAGTCATCT GAAGCAAATAATCTTTGTTTGATTAATTTAGGAAAGACATGTCTTATTCT AGATAGAGTTAATGTAACATTCCTCTCCTGTTTGTTTCCATGTCAGACTT ACCACAAGCCTGACATGAGTTGATGGCTGGGGCTCTATTGAGTTCATTTG TTTCCTTGCCTAGTCTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA20805.hp1 HG03490.hp2 HG03492.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	3	314	0.0096	-1117	c.65 others(11): Show c.6571_*7687del		VPS50	ENSG00000004766.17	transcript	ENST00000305866.10	protein_coding					3884		chr7	TogoVar
ZNF837_chr19_58362623_58386030	58363650	CGAGGTCA others(1110): Show CGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCT CTACTGAAAATACAAAAATTAGGCTTGTTGGCGTGTGCCTATAATCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCAGAAG TTACAGTGAGCTGAGGTCGTGCCACTGCACACTCCAGCCTGGGTGACAGA GCAAGACTCCGTCTCAAAAAACAACATAGACCAGATGCTGTAAGCTAAAA TAAATGAATAGCTAGAGACGGGGTCTCGCTATATGGCCCAGGCTGGTCTT GAACTTCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTAG GATTACAGACCCGAGCCACTGCACCCGGCCTCCACGAGCTCTTTTTGTAC CAATTTTTCCCAATTTGTACTAGGGAGCTCTCACCTCAGCCCAGGTGGTT TGGGCAGGTGTGGGTACATGGCCCAGGTCCACAGCACAGGGCAGTCCATC CCTCTGGCCCTGGCAGTGGTCACTTTGGACCTGTGAGCATCGTGGGACTT CTCTCTGAACTGTTAGGGCCTCTATCTGCTTTGAACCTGAGGCTGTGAGC ATCTGTCAGCTGGGGCAGCTGCAGCCTTCTTGCCCCGCTGAAGGATGAAT CTGTTAAGAGAATGGAGTCCATACAGAAAAGCAGAACTGAGGGATGGTGT GTTAGTTTCCTGTGGTTATGCAGCAAATTACCACAAATTTGGTGGCTTAA AACAGCAGAAATATATTCCCGCCCAGTTCTGGGGACCAGAAGTCTAACAT CGATATGACTGAGCTGAAACAAGATGTTGACAGGGCTGAGCTCCCTCTGG AAGCTCTAACGTAGAACCTTTCCTTGCCTTTTTCAGCACCTAGAGCTGCA TTCCATGTATTCCTTGGCTTTTCGTCCTTTCCTCCATCATCAAGTAACTG GTAACATCTTACTATTTCTCTCATTAAGTTAAAATATTTAACATATGTTC ATTTTATCTTATTTGCATGAGAGTCAATTTTAGCTTTAAAAAAATTTTTA TTGGCCGGGTGGGGTGGCTCAGGCCTGTAATCCCAGCAATTTGGGAGGTG GAGGTGGGCGGATCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	410	0.0024	-1117	c.29 others(11): Show c.2970_*4086del		ZNF837	ENSG00000152475.7	transcript	ENST00000597582.2	protein_coding					3972		chr19	TogoVar
ANKRD33B_chr5_10559070_10662816	10638999	CGATGTTA others(1109): Show CGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGC GGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTT AGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTG CGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGT GACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCG ATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGG AGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAG GCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCG CGGCGATGTTAGCGGGTGACGCGGGGTTGCGCGGCGATGTTAGGCGGTGA CGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGAT GTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAG TTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCG GGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCG GCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACG CGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGT TAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGTGCGGC GATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTG GAGTTGCGCGGTGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTA GCGGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGAGTTGC ACGGTGATGTTAGGCGGTGACGTGGAGTTGCGTGGTAATGTTAGCGGGTG ACGTGGAGTTGCGCGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00738.hp2 others(3): Show HG00140.hp1 HG00735.hp2 HG00738.hp2 HG01258.hp1 HG02698.hp2 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0002	a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0195 others(3): Show a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0195 a0001c0005t0002g0046 a0001c0005t0002g0067 a0001c0005t0002g0299	6	322	0.0186	-1116	c.637 others(16): Show c.637+840_637+1955del		ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC2_chr6_168436184_168672992	168571995	GCATCCCC others(1109): Show GCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTT CATTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCT GAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGC TGCGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCTCCGGGTGC CGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCACTTCCTCCCCGC ATCCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGCAATGTTCA CTTTCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGTGTGCTCCCTGA ACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTG CGTGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCTG GGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCACTTCCTCCCCGCAT CCCCGGGTGCCGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATT TCCTCCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAAC GCGATGTTCACTTCCTCCCCGCATCCCCGGGTGCCGGGACCAGGGCTGTG TGCTCCCTGAACGCGATGTTCATTTCCTCCCCGCATCCCCGGGTGCTGGG ACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTCCTGCCCGCATCC CCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGCGATGTTCATTTC CTGCCCGCATCCCCGGGTGCTGGGACCAGGGCTGCGTGCTCCCTGAACGC GATGTTCATTTCCTGCCCGCATCTCCGGGTGCTGGGACCAGGGCTGCGTG GTCCCTGAACGCGATGTTCACTTCCTCCCCGCATCCCCTGGTGCCGGGAC CAGGGCTGCGTGCTCCTTGGACGCGATGCTCATTTCCTCCCCACATCCCC GGGTGCTGGGACCAGGGCTGCGTGGTCCCTGAACGCGATGTTCATTTCCT CCCCGCATCCCCGGGTGCGGGGACCAGGGCTGCGTGCTCCTTGGACGCGA TGCTCATTTCCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02572.hp1 HG02572.hp2 others(4): Show HG01069.hp2 HG02572.hp1 HG02572.hp2 HG02809.hp2 NA19030.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0001t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0124 a0001c0002t0002g0032 a0001c0002t0002g0052 others(4): Show a0001c0001t0001g0124 a0001c0002t0002g0032 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0002g0180 a0001c0002t0008g0045	7	177	0.0395	-1116	c.637 others(19): Show c.637+22806_637+23921del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
ZNF516_chr18_76352682_76500242	76393283	AGGCAGGT others(1109): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA20905.hp1 HG03239.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0235 a0001c0001t0011g0237 a0001c0001t0003g0235 a0001c0001t0011g0237	2	298	0.0067	-1116	c.181 others(21): Show c.1811-14096_1811-12981del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393614	AGGTGGTC others(1109): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAG GGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGC AGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGC AGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0281 a0001c0014t0009g0281	1	331	0.0030	-1116	c.181 others(21): Show c.1811-14427_1811-13312del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393677	GAAGGCAG others(1109): Show GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAG GTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTG GTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTG GGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAG GGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0004 a0001c0001t0037g0004	1	341	0.0029	-1116	c.181 others(21): Show c.1811-14490_1811-13375del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
FAM9A_chrX_8785795_8806383	8799524	CGGCGGCC others(1108): Show CGGCGGCCGGGCTGGAGGGACCCACTCGAACTGTCCCCCACAACACCCCT GCTTGTCGCCTCCCCACACACTCCGCCCCTCCTCCTCCCCTTCCCCCATC CCCTCACCCCACGAACCCCACACCCCTCCCCTCCCCTGCCCCCATCCCTG GCCCCACACCCGGCCCCTGCCTATCTGCCACTCCCCCGACCCTCCCCCCT CTGCCACCACCCCTCCCTTGCTCCCCTCTCCACCACCTCCATTCCCCCAA GCCCCCCTCCCCTGCCCCACCCCTCCCCACTGCACACATCCACAAGTCCC CGGGACAATCCCGGGCCCTGGGGATCACTCAGGTGTCTCCAGCTCCCTCC CTGCCCTGGCCCATCCCAGCCCACCCTCAGGGCCTCGCCCTGACCCAGGC CCCAGGCAACGATGCCAGGGCCATTTCCTGCTTTGAAAACCTGGGGCCTC TTAGCACGTGCATGGTGGACTCCAAAGCCACAAAGGGGCCAGGGGTCTCG GGCTGCCCATGTGCCCCCCGCGCAGAGAGCAAACAGACCATCTCCTTGGG CGTGCACCTTCTTTCGTGGCCCCCTGGGCGGCCGTAACTTGAGCTTCCAA CTGAGCTTTGGCAGCCTTCCTGCTGCGCTTCCTGCCCACGGGCTCCATGG TTGGCTGTCCTGGGAAGTTAGAGGCGATCCCTGAACCTGGTTGAGTGCAA AGTCAAACTAAGTAAGCTAAGGAAACAGGATATGTGAAAGGAGAGCCAAC GGGATCTCGGATTCAAGAAAGGGTGGGGCTGGCCCACCCCGTGTATCCTG TGGGAGCAGGAGGGGTCGGAGAAGATGCCAGTGTCCCCTCCTATCCTTCG TGGCCCGTCCAGCCCGTCCCTGGGGCTGGCTGCAGAACTCACAGCTGCCT CGCACACCTGAATGGCCCCTGCAGGATCCTTGCGGTGTCCCTGGGACAGA GTTCAGCCCTGCCCCTGTGTGCCCCAGAGACCTGCGTGGCCCGGAGGACC ACGGGTGTCACAGGACCTCCCCAGCCATCTCTGGGGGAATGTCAGGGGCT GCACTGCCACTTGCCTGCCTGGATGCCCAGGTGACCCCTCGTGACCCCAA GTGTCCTGTCCTGACG	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG03239.hp1 HG03239.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0005 a0009c0011t0005	a0009c0011t0005g0061 a0009c0011t0005g0061	1	301	0.0033	-1115	c.-38 others(14): Show c.-38-430_92-431del		FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	2/10						chrX	TogoVar
FAM9A_chrX_8785795_8806383	8799835	CGGGCCCT others(1108): Show CGGGCCCTGGGGATCACTCAGGTGTCTCCAGCTCCCTCCCTGCCCTGGCC CATCCCAGCCCACCCTCAGGGCCTCGCCCTGACCCAGGCCCCAGGCAACG ATGCCAGGGCCATTTCCTGCTTTGAAAACCTGGGGCCTCTTAGCACGTGC ATGGTGGACTCCAAAGCCACAAAGGGGCCAGGGGTCTCGGGCTGCCCATG TGCCCCCCGCGCAGAGAGCAAACAGACCATCTCCTTGGGCGTGCACCTTC TTTCGTGGCCCCCTGGGCGGCCGTAACTTGAGCTTCCAACTGAGCTTTGG CAGCCTTCCTGCTGCGCTTCCTGCCCACGGGCTCCATGGTTGGCTGTCCT GGGAAGTTAGAGGCGATCCCTGAACCTGGTTGAGTGCAAAGTCAAACTAA GTAAGCTAAGGAAACAGGATATGTGAAAGGAGAGCCAACGGGATCTCGGA TTCAAGAAAGGGTGGGGCTGGCCCACCCCGTGTATCCTGTGGGAGCAGGA GGGGTCGGAGAAGATGCCAGTGTCCCCTCCTATCCTTCGTGGCCCGTCCA GCCCGTCCCTGGGGCTGGCTGCAGAACTCACAGCTGCCTCGCACACCTGA ATGGCCCCTGCAGGATCCTTGCGGTGTCCCTGGGACAGAGTTCAGCCCTG CCCCTGTGTGCCCCAGAGACCTGCGTGGCCCGGAGGACCACGGGTGTCAC AGGACCTCCCCAGCCATCTCTGGGGGAATGTCAGGGGCTGCACTGCCACT TGCCTGCCTGGATGCCCAGGTGACCCCTCGTGACCCCAAGTGTCCTGTCC TGACGGGCGGCCGGGCTGGAGGGACCCACTCGAACTGTCCCCCACAACAC CCCTGCTTGTCGCCTCCCCACACACTCCGCCCCTCCTCCTCCCCTTCCCC CATCCCCTCACCCCACGAACCCCACACCCCTCCCCTCCCCTGCCCCCATC CCTGGCCCCACACCCGGCCCCTGCCTGTCTGCCACTTCCCCGACCCTCCA CCCTCTGCCACCACCCCTCCCTTGCTCCCCTCTCCACCCCCTCCATTCCC CCAAGCCCCCCTCCCCTGCCCCACCCCTACCCACTGCACACATGCACAAG TCCCGGGGACACTCCT	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	299	0.0033	-1115	c.-39 others(14): Show c.-39+361_91+245del		FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	2/10						chrX	TogoVar
MARCHF8_chr10_45449585_45540371	45512622	GGCCAGCC others(1107): Show GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGTCCC TACTGGGATGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGG TGTACCCAACAGCTCATTGAGAACGGGCCGGGACGACAATGGCGGTTTTG TGGAATAGAAAGGGGGGAAAGGTGGGGAAAAGATTGGGAAATCGGATGGT TGCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTT CTGTACCAAGAAAAATTCTTCTGCCTTGGGATCCTGTTGATCGGTGACCT TACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTT AAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAA GGCAGCATGCTCGTTAAGAATCATCACCACTCCCTAATCTCAAGTACCCA GGGACACAAACACTGCGGAAGGCTGCAGGGTCCTCTGCCTAGGAAAACCA GAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCC TATGACCCTGCCAACTCCCCCTCTGCGAGAAACACCCAAGAATGATCAAT TAAAAAAAAATAAATAAAATAAAATAAAAAAGAAATTATAACACTGTAAC TGCTTCCTACAGTGCTATATGAGCAAGTAACCTTTCTAGAAAGACAGTTA ATGGTCTTTAGTGCAGAATGTACTCATTCAGAAACACGTTTATTAACCAC CTACTATGAGCCAGGTACAGGTCCAGCCCCTGCGAATGATGAGTGAACAA AACAAAGATCCCTGCTGTTGTAGAGCTTATGAAAACAGTGTAGAAAGAGA TTGTCCATTTTCTCTGGTTGTCTCAGAGCTCAGGGCTTGTGTTCAGGGGA TGTTTGTTAGAGTTTTAAAACTATAAATGATATATTTACTGATGAAATAG TGTATTCAATTTGGCCTGGATTCCTTAATACTCTGGCTCTTTTCATCTTT GCTATTTGCATGTCCCCACAGCTCAAGAACATCTCATAGCCTCAGCAAAG TTAACAGAGACGGCATCCACAAAAAATCAGACAGAGGGAGCAAATGGCAA CACTGGAACAGCCCT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0020 a0004c0003t0020	a0004c0003t0020g0292 a0004c0003t0020g0292	1	344	0.0029	-1114	c.102 others(19): Show c.102+19374_102+20487del		MARCHF8	ENSG00000165406.16	transcript	ENST00000453424.7	protein_coding	2/7						chr10	TogoVar
S1PR4_chr19_3173769_3185332	3174672	CTCATGGG others(1107): Show CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGC CTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGCCCTCAT GGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTG CCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGTTCTCATGGGAC GCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCT CATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCC TGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGCCCTCAT GGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTG CCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGA CGCCTGTGCCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGCCC TCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACAC CTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCAT GGGACGCCTGTGCCCCTCATGGGACACCTGTGTTCTCACGGGACGCCTGT GCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGG ACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACACCTGTGCC CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGCGTTCTCATGGGACGC CTGCATTCTCATGGGACGCCTGTGCCCTCATGGGACACCTGTGTTCTCAT GGGACACCTGTGTTCTCATGGGATGCCTGTGCCCTCATGGGATGCCTGTA CCCCTCATGGGACGCCTGTGTTCTCATGGGATGCCTGTACCCTCATGGGA CGCCTGTACCCCTCATGGGACATCTGTGCTCTCATGGGATGCCTGTGCCC CTCATGGGATGCCTGTGCCCTCATGGGACGCCTGCATTCTCATGGGACAC CTGTGCCCTCATGGGATGCCTGTACCCTCATGGGACGCCTGTGCCCCTCA TGGGATGCCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	-1114	c.-41 others(11): Show c.-4120_-3007del		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding					4096		chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291361	CCCCGTGT others(1107): Show CCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGT GTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCT CCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCAT GCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT CCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCG TCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCCGTG TCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCC GGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCC CATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTG TCCCCCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTC CCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCC CCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACA CTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGT GTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACACTCCGTGTCCCCCATGTCCCTCCGTGTCCC CGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	279	0.0036	-1114	c.121 others(17): Show c.1214+24_1214+1137del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
C1R_chr12_7075219_7097445	7083645	GTGGTGNN others(1106): Show GTGGTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNGTAGTGGTGATGGTGTTGGTAATGGTGATAGTGGTGATGGTGGT GATGGAGGTTTTAGTGTGGTGGTGACGATGGTGTTGGTGGTGGTGATGGT GTTGGTAATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02723.hp2 others(6): Show HG02055.hp1 HG02055.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0052 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0087 a0001c0016t0001g0053	9	320	0.0281	-1113	c.127 others(19): Show c.1273+1103_1274-1540del		C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10						chr12	TogoVar
IRAK2_chr3_10159919_10248745	10240165	GATACTTT others(1106): Show GATACTTTCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCTGAGGCGGGCAGATCACGAGTTCAGGAGTCCGAGACCAGTCTG GCCAATATGGTGAAACCCCATCTCTCTACTAAAAATACAAAAATTAGCTG GGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAG GAGAATTGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATTGCA CCACTGCACTCCAGCCTGGGTGACAGAGGAAAACTGTCTCAGGGAAAAAA AAAAGGTACCTTCCATTCCTGCCACTCAGGTCCAAGGATACCAAGTTTCT TTCTGAAATAAAAAATTAGGAAGCCCCCCCCCCCCCCCCCCGCCTTTTTT TTTTTTTGTTTTGAGACAGTGTTTCACTCTTGTTGCCCAGGCTGGAGTAT AATGGTGTGATCTTGGCTTATGGCAGCCTCCGCCTCCCGGGTTCAAGTGA TTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACC ATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTG GTCAGGCTGGTCTTGAACTCCCAACCTCAGGTGATCCGCCCACCTCGGCC TCCCAAAGTGCTAGGATTATAGGTATGAGCCACCGCACCCGACCAGGAAG GCCCTTTCAATGCAGTGTCCCTGTCCCTTAGTAAACATGGTTCAATGAAT GTCCCAGGCTCTGACCACTCCTGTTTCTCTTTTACTCCTCCTGCCATGGG GAGGGGAGAGGAAGAAGAAAGACAGGATGTGAGCATTTTTTTCACTCCAC CCTCCCACCCCTCAACATCATAAATAGGAACAGGGAAACCCTCTCCTTTC TGGAAGGCCAGGGTAGGTTGCAGGGCTTCCTGCAAAGACAGAGGAGATGA AAATGCTCATTACAGCTGGGTGCAGTGGCTCATACCTGTAATCCTAGTAC TTCGGGAGGACGAGGTGGGCTGATTGCTTGAGCCCAGGAGTATAAAGATC AGCCTGGGCAACATGGTGAAAACCTGTCTCTACGAAAGATGCAAAAATTA GCCAGGTGTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	290	0.0034	-1113	c.176 others(18): Show c.1765+1127_1766-838del		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	12/12						chr3	TogoVar
AIG1_chr6_143055889_143346058	143215043	ATTGGGTT others(1105): Show ATTGGGTTCATTGCACTTCATATCCCTTTGCTTCACTCTCAGCCTGGAAC ATTGTAGGTGCTCCGTAGGTCTTGTTGAATTAATGAATTGATCAATCACT GACTGATTCATAATTGGCTAATATGCACACCAACTGATTAAACATAAGAT AAAATAAATAGTATTTATGATGTCAGAATGCAAATTCTTCATTCTTTAAA CATTTCCACCCCAAAAGTGGAAAAAGGTATGGATGAGCTGTGAATCCTGA TACTCATGAGGTCACTAAATAATAGTGTTTTTTGGCAAAGACTGGTGCTA GCCTAACTCAGCATCCACTTTCTCCTTTCTCCAGAACAATAGACTCTTAT TTTTATCTGGGTATGTGGCCACCAACAATAAAACACACAAACAAAAAACA GTATTTTCCAGTGCACCTTGCAGATAGATATTGCAAACCACTAAGTTCTG GCAAATAAAATAGAAGTGGAAGTGTTTTGTGGAACTATCAAGAGGACTGT TTAACGAGAGCTGACTCATCAAGGAGGAGCCCTCCTTCACCAGTGTCTAC TTTTTCTCTTTCTTCGGGCCTGGATTTGAGATATTTAGATATGGCTGCTG AGTCCCAGCAGCACTTTGGACCATGAGATGACCTAGAAGATCCTAGCACC CATGTGCTAGGATATCAAAGCAAAAAGATGCAATGGGTTGGTTCTCTGAT GGCACTATTAATCCTGTAGTCCCAGCCTCTAGACTTCTTTACATAAGAGA GTAATGAATGAACACTCTAAGGCAGTGGTTAGTAAACCTTTTTTTGTAAA AGGCCAGAAAATAAACATTTTAGGCTTTTTAGTCCATACAGTCTCAGACA CAACTCCTCAGCTCTGCTGTCATAATTCAAAAGCAGCCACAGACAATACA TAAACGAATGAGTGACTATGTTAGAATAAAATTTTAATTACAAAAACAGG TGGCTGGCTGGATTTGATTCATAGACTGTAGCCTACTGATCCCTGCTCTG AGGCACTGTGATTTTGAGTCCTTGTGATATATATAGCTAAATCTCACCCT AATGAACACATCTTATTGGTGAGATGAAACTTTTGATTTGAAGGAGAGAA ACTGTCAAGACTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	202	0.0050	-1112	c.399 others(19): Show c.399+49864_399+50975del		AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
OXLD1_chr17_81660036_81671605	81663674	CGTGAGCC others(1105): Show CGTGAGCCACCGCGCCTGGCCGGTTTTTTTTTTTTTTCTTTTTGAGATAG AGTCTTGCTCTGTCACCCAGGCTGCAGTGTAGTGGCATAATCTCAGCTGA CTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCTCGAG TATCTGGGACTACAGTTGTGTGCCACCATGCCCCACTAACTTTAGTATTT TTTTTTTTGAGATGGAGTCTTGCTTGCTGTCGCCCAGACTGGAGTGCAGT GGTGCCATCTCAGCTCACCGCAACCTCCACCTCTAGGTTCCAGCAATTCT CCTGCCTCAGCCTCCTGAGTAGGTGGGATTATAGGCACCCGCCACCGTGC CCAGCTAATTACTGTAATTTCAGTAGAGAAGGGGTTTCCCCACGTTTGGC CAGGCTGGTCTCAAACTCCTGATCTCAGGTGATCCACCCACCTAGGCCTC CCAAAATGCTGGGATTACAGGCGTGAGTCACCACGCCTGGCCACGTCCTG CTGCTCTTACCAACTCCCCTGGGAGCTGCGGCTGAAGGAGCTGGAAGGAC TGGTTCCAGGTAGTGCTTGGGCCACTGAGGGCTGATCTGCAGCCCCTGCC AGGCTGGTGGAAGGGCACCCGAGGACCCCTGCCAGGGATTGATGGCAGCT GGACAGATGGGCACTTCCAGGCTGCCTGTGGGCTTCTGTGCCTGCCAAAG GCTTTGCCACAGTGACTCAATGAGATCAGATGGCCTTCCCTCTGCTGCAC GCTGAGAGCAACCAGAGCAGGCCTTTGCCAGGACTTGGGGGAAGGTGGGA CCTGGCCTGGAAGGGGCACTGGGGTCACTGTCATTTGACTGTTCAACGAA AAGGGGTCCTATTTATTGAGTCAGAGTTTCACTCTCGTCACCTAGGCTGG AGTGCAGTGGCATGACCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCC TCAGCTTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCT AATTTTTGTATTTTTAGTAAAGATGGGATTTCACCATGTTGGTCAGGCTG GTCTCCATCTCCTGACCTCATGATCTGCCCGCCTCAGCCTCCCAAAGTGC TGGGATTACAGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-1112	c.41 others(10): Show c.415_*1526del		OXLD1	ENSG00000204237.5	transcript	ENST00000374741.4	protein_coding					1361		chr17	TogoVar
ATXN1_chr6_16294112_16766460	16613852	GAAATGAC others(1104): Show GAAATGACAAATTTTCTAGAAACATTAAAATGCTTTAATATTAATTTAAG AAGTAAAAATCCTGATCAAAAAAATTATTATAGACAAACTTTTAGGGGTG GGGAGGCTTTCATAATATAACAACCAAAAAATGACATAATTCTAATAACT TTGGGGACAGGTAATTTCAAAGCTTCCAGGATGCTACATGTGCCTTAATG GGGGCAAAGGTACCCTTCCTTTCTCTCACTTTTCTTCTCCTTGAGGCAAC TCAGAGGAGCGATTGTGGAAATTTCCGAAGCTGCTATATGTCAGCTTGCC CATTTGTATGGAATTTCATGGTTTTTTTGACAAGTCAGTCTTTTTGTCAT CATCGCATCTTGAGAGTAGAGAGGAAGGGAATGGAAGGGAGAACTGTTAC TATCAGAGGCTTCTGGAAATCCCCGCTTGATGGTACATGACTCTTTCTTA AGAATGGTTCTCTTTTATGGGTTGCCATTTTGGTGACAATTGGTGCACTC AGCTCTACCTCTTGGTGGGCCCCAGTGTACTTCAGCATGATCTCAGTTCT TTCTTTCTCTACCAGTTTCCATGATACATACATCCTGAAAATCACAGCAT CACCATTCAATAGACAAAAATTATCATTATCAAAGCGGCCAAAAAGGTTT TCTCTTAAATATTCTGTGGGAAAGAGGGTTGAAAATTAGAATAGAATACT ATGTATTTGCCACAGTAAAAGATATCTACCACAAACCAGTAGCCAATATT ATATTAAAAGTTAAAAACAAGAGTCAATGATTAAATTCAGGCCACATGCG GTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAAGCGGGTGGAT CACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCGAACATGGTGAAACTCC GTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGTTGCATGCCTGT AATCCCAGATACTTGGGAGTCTGAGGCCGGAGAATCACTTGAGCCTGGGA GGCAGAGGTTGCAATGAGCCAAGATCGTGTGCCACTGCACTCCAGCCTGG GCAACAGAGCAAGACCCTGTCTTGATAAAATAAAATGAAATAAAATAAAA TAATATAAATAC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18951.hp2 NA19030.hp1 HG02615.hp1 NA18951.hp2 NA19030.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0004 a0004c0005 a0005c0016 a0002c0004 a0004c0005 a0005c0016	a0002c0004t0003 a0004c0005t0002 a0005c0016t0001 a0002c0004t0003 a0004c0005t0002 a0005c0016t0001	a0002c0004t0003g0006 a0004c0005t0002g0160 a0005c0016t0001g0025 a0002c0004t0003g0006 a0004c0005t0002g0160 a0005c0016t0001g0025	3	180	0.0167	-1111	c.-48 others(21): Show c.-488-29056_-488-27946del		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16614228	GGGAATGG others(1104): Show GGGAATGGAAGGGAGAACTGTTACTATCAGAGGCTTCTGGAAATCCCCGC TTGATGGTACATGACTCTTTCTTAAGAATGGTTCTCTTTTATGGGTTGCC ATTTTGGTGACAATTGGTGCACTCAGCTCTACCTCTTGGTGGGCCCCAGT GTACTTCAGCATGATCTCAGTTCTTTCTTTCTCTACCAGTTTCCATGATA CATACATCCTGAAAATCACAGCATCACCATTCAATAGACAAAAATTATCA TTATCAAAGCGGCCAAAAAGGTTTTCTCTTAAATATTCTGTGGGAAAGAG GGTTGAAAATTAGAATAGAATACTATGTATTTGCCACAGTAAAAGATATC TACCACAAACCAGTAGCCAATATTATATTAAAAGTTAAAAACAAGAGTCA ATGATTAAATTCAGGCCACATGCGGTGGCTCATGCCTGTAACCCCAGCAC TTTGGGAGGCTGAAGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCA GCCTGGCGAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAG CCAGGCGTGGTGTTGCATGCCTGTAATCCCAGATACTTGGGAGTCTGAGG CCGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAATGAGCCAAGATC GTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTTGAT AAAATAAAATGAAATAAAATAAAATAATATAAATACAAATGACAAATTTT CTAGAAACATTAAAATGCTTTAATATTAATTTAAGAAGTAAAAATCCTGA TCAAAAAAATTATTATAGACAAACTTTTAGGGGTGGGGAGGCTTTCATAA TATAACAACCAAAAAATGACATAATTCTAATAACTTTGGGGACAGGTAAT TTCAAAGCTTCCAGGATGCTACATGTGCCTTAATGGGGGCAAAGGTACCC TTCCTTTCTCTCACTTTTCTTCTCCTTGAGGCAACTCAGAGGAGCGATTG TGGAAATTTCCGAAGCTGCTATATGTCAGCTTGCCCATTTGTATGGAATT TCATGGTTTTTTTGACAAGTCAGTCTTTTTGTCATCATCGCATCTTGAAA GTAGAGAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18957.hp1 NA18986.hp1 HG02055.hp1 NA18957.hp1 NA18986.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0008 a0003c0002 a0004c0005 a0001c0008 a0003c0002 a0004c0005	a0001c0008t0001 a0003c0002t0043 a0004c0005t0002 a0001c0008t0001 a0003c0002t0043 a0004c0005t0002	a0001c0008t0001g0009 a0003c0002t0043g0175 a0004c0005t0002g0072 a0001c0008t0001g0009 a0003c0002t0043g0175 a0004c0005t0002g0072	3	180	0.0167	-1111	c.-48 others(21): Show c.-488-29432_-488-28322del		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
COX5A_chr15_74914791_74943073	74915766	GTAATCCC others(1104): Show GTAATCCCAGCACTTCGGGAGGCCCAGGTGGGCGGATCACGAGGTCAGGA GATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAATATA AAAAATTAGCCGGGCGTGGTGGCTGATGCCTGTGGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGGTTGCAGTAA ACCGAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCA TCTCAAAAAAAAAAAAAAAAAAAAAAAAGGTCAAGATGGTAAATTTTATG TATGATCTTACCATAATTTACTAAAAGGCAAAAAAATAAGCCACAGATAA TATGTAAATGAATGAGGGCGTGTGACTGTGTTCCAATAAAACCTTATTTA TGGACACCATATTTGAATTTATTATTTTTTGAGACAGAGTCTTGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGC CTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCGGAGTAGTGGGGAC CACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTACCTTGTGA TCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACC ATGCCCGGCCCATATTCTGAATTTCATACAGTTTTTATATATTATGAAAA ATTTTTTTTTTTTTGAGTCAGAGTCTCGCTCTGTCGCCCAGCCTGGAGTA CAGCAGCATGATCTCGGCTCACTGCAACCTCCACATCTTGGGTTCAAACG ATTCTTCTGCCTCAGCTTCCCGTGTAGCTGGGACTATAGGTGCGTGCCAC CATGCCCAGCTAATTTTTATATTTTTAGTAGAGACATGGTTTCACCATAT TGGCCAGGCTGGTCTCGAACTCCTGACCTTGTAATCCACCCGCCTCAGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCGAAATA TTTTTCATTGATTTTTCAACCATTTAAAAACATACCAGGCCGGGCACGGT GGCTCACGCCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	426	0.0023	-1111	c.35 others(11): Show c.3575_*4685del		COX5A	ENSG00000178741.12	transcript	ENST00000322347.11	protein_coding					4024		chr15	TogoVar
DACT3_chr19_46642551_46666182	46643111	GGGTGGTC others(1104): Show GGGTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCC AAAGTGGTGGGATTACAGGCATGAGCCACCATCTTCTCAATTAGACCATT CTTGATCACTCTACTTAAAATTACACACTCCCTTGGCCAGGCACACTGGC TTATGCTTGTAATCCCAACACTTCGGGAGGCTTAGGCAGGAGGATCACTT GAGACTAGGAGTTGGAGACCAGCCTGGGCAACATGGTGAGACCCTGCCTC TGCCAAAAAAAATAAAAATTAGCCATGCATGGTGGTGTGTGCCAAGCTGC TTGGGAGACTGAAGCAGAAGGATCCCTTTAGCCCAGGAGGTCAAGGTTGT AGTGAGCCATGGTTATGCCACTGCACTCCAGCCTGGGTGACAAAGTGAGA CCCTATCTCAAAAAATAATAAGTAAAATTACAAACTCCCCGCTTCACCAC CCCACCCAATCCCCTCATATCTCTGGTCAGTTTTTCCCTATAGTCATCAC CTTTAACAAACTATAGAATATATTTATTATGGTACCACCACCACCACCCC CAGCTTCCCTCCCTGGGACCCATTCCTGGTATATCCTTTTTAAGATCATG GTTCCAGCAAATAGACCATGTAGGGCACTGACTAAGGCCATGAACTCTGA AAATAGTGTGCCTGAATTTGAATCCTGGCTTTGCCACCTATGAGCTTCAG ATACATTTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCA CTCTGTCACCCAGGCTGGAGTTCAGTGGTGTGATCTTGGCTCACTACAAC CTTACAACCTCTGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGATTACAGGCGCCCACCACCACACCTGGCTAATTCTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCT GGAGTGCGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTT CACACCATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCA GTGTGTTAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0217	1	458	0.0022	-1111	c.42 others(11): Show c.4260_*5370del		DACT3	ENSG00000197380.11	transcript	ENST00000391916.7	protein_coding					4439		chr19	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440085	ACATCTTC others(1104): Show ACATCTTCTCCTCCTGCTCCTGCATCTTCTCTTCCTGCTCCCACATCATC TCCTCCTGCTCCTGCATCTTCTCTTGCTGCTCCTGCATCTTCTCCTCCTG CGTCTTCTTCTTCTCCCGCATCTTCTCCACCTGCTGCCACATCTTCTGCT CCCGCATTCTCTCCTCCTTCTCCCGCAGCCTCTCGTCCTGCTCCCACATC CTCTCCTTCTGGTCCCACATCTTCTGCTCCTGATCTCCTGCTCCTGCATC TTCTCGTGTTCCCACAGCTTCTCCTTCTGTTCCGGCAGCCTCTGCTGCTC CCACATCTTCTTCTTCCTGCTCCCACATCTTCTCCTCCTGCTCCCACATC TTCTCCTCCTGCTCCTGCATCTTCTCTTCCTGCTCCCACATCTTCTCCTC CTGCTCCCGCATCTTCTCTTCCTGCTCCTGCATCTTCTCCTCCTGCTCCC GCATCATCTCCTCCTCCTCCCGCATCTTCTTCTCCCGCTCCCGCATCCTC TCCTCCTCTCGCATCTTCTCCTCCTGGTCCCATGTCTTCTTCTCCTGCTC CTGCGTCTTCTTCTCCTCCCGCATCTTCTCCTCCTGCTGCCACATCTTCT TCTGCTCCCGCATTCTCTCCTCCTTCTCCCGCAGCCTCTCGTCCTGCTCC CACATCCTCTCCTCCTGGTCCCACATCTTCTGCTCCTGATCCCGCATCTT CTCCTCCTGCTCCCACATCTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCT GTCTCCACATCTTCCTGCTCCCGCATCTTCTCCTGCCGCCACATCTTCTT CTCCTGCCCCCACATCTCCTCCTGGTCCCGTATCTTCTCCTCCTGCTCCC ATATCTTCTCCTCCTGCTCCTGCATCTTCTCCTGTTCCCACAGCTTCTCC TTCTGTTCCGGCAGCCTCTGCTGCTGCCACTCCTTCTCTTCCTGCTCCCA CATATTCTCCTCCTGCTTCTGCATCTTCTCCTCCTGCTCCCGCATCGTCT CCTCCTCTTCCCGCATCTTCTTCTCCCGCTCCCGTATCCTCTCCTCCTCT TGCATCTTCTCCTCCTGGTCCCGCGTCTTCTTCTCCTGCTCCTGCATCTT CTTCTCCTCCCG	A A	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG02280.hp1 HG03195.hp1 others(1): Show HG01884.hp2 HG02280.hp1 HG03195.hp1 HG03225.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0005 a0008c0011t0002 a0008c0011t0005	a0008c0011t0002g0104 a0008c0011t0005g0024 a0008c0011t0002g0104 a0008c0011t0005g0024	4	392	0.0102	-1111	c.127 others(9): Show c.1279_2389del	p.Arg others(5): Show p.Arg427fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2451/3499	1279/2730	427/909			chr15	TogoVar
OSBPL8_chr12_76346797_76564771	76506918	AGGCTTCG others(1104): Show AGGCTTCGAGAGAAGAAAGGTAGTCTTCTCTGCTGTTTTAAGTATTTTAA ACAGTGTATATTGCTTCTGTTAATTTTTTAAAAGTTAAGTAACTTTTTTG TAAAAGAGTATGGCATTTGACAACCATATTGACTCATTTCTCAAAACTGC CAAACTAAAGCCAGGCCTGCATCCTAATTTAAATATAATTACTAGTTGAA TTCAAAGTATAAAGAAGACAATGTTCTCTCTATTGTTCCTTTTGTTATCA GTACTCCAGAAGCTGGGGAACTGGTAGCTCATTGTCTATACTTACCCTAA CAAAGTTCCTAGAGAAAGTAATTTTTATAAAACTTATTCTCTATTTGGGA TTTACAAATAGTTATTTCAGTCACAGGGAAAAGGAAGGAGCACCTACTAG GCAAGGTTAATGGCTTTAATACATATCTAATCATAATAACCTTAAAATAA TGATTGAATATTGAACATTCAATTATTCAGTAATGAATAGTGGCTTTCTC TTATGGCAACAAGTTTTATATGATAAATATGTGACTTCCTATCTCCCAGG ATGTCCCAGGAGCTTTTCTGTTTTATTACACTCATATGTAACAAAAAAAG GATTCTCAGAAGCAAAAATGTGCCGGGTGTGGTGGCTCACACCTGTAATC CCAGCAGTTTGGGAGGCCTAGGCAGGTGGATCACCTGAGGTCAGGAGTTT GAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTTCCAAAAATACAA AAAAACTTGGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAG GAGGCTGAGGCAGGAGAAATCACTTGAACCCAGGAGGCAGAGGTTGCAGT GAGCCAAGATCATGCCATTGCTCTTCAGCCTGGGCAACAGAGCAAGACTC AATCTCAAAAAAGGCAAAAATGCTGAGCCATGAATACATTACACTTTTAA AGAAGAATATTACTGGAAGATGGCTGGGCGCGGTGGCTCATGCCTGAAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGATCAGGAGTT TGAGATCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACA AAAATTAGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02895.hp1 others(2): Show HG02055.hp1 HG02109.hp2 HG02895.hp1 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0035 a0001c0001t0001 a0001c0001t0019 a0001c0001t0035	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0019g0052 a0001c0001t0035g0238	5	236	0.0212	-1111	c.-67 others(19): Show c.-67-20411_-67-19301del		OSBPL8	ENSG00000091039.17	transcript	ENST00000261183.8	protein_coding	1/23						chr12	TogoVar
SDK1_chr7_3296252_4274000	3976314	GCAGAGGA others(1104): Show GCAGAGGATCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCGAG GCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACACAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0035 a0002c0043t0035	a0002c0043t0035g0079 a0002c0043t0035g0079	1	102	0.0098	-1111	c.199 others(19): Show c.1994+1776_1994+2886del		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
ABR_chr17_998519_1184981	1062193	TTGTTACG others(1103): Show TTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACT GAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGAGGGCT ATGCATGTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTATGCATG TTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCT AGCACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTG TTGTTATGTGAACTGAGGGATATGCATGTTCCTCTAGACACTGTTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAG GGTTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATACATGTTC CTCTAGACACTGCTATTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGTT GTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGT GAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGG CTATGCATGTTCCTCTAGATGCTGTTGTTACGTGAACTGAGGGCTATGCA TGTTCCTCTAGATGCTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCT CTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACG CTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGCTGT TATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGA ACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACTGAGGG CTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATACA TGTTCCTCTAGACACTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCT CTAGACACTGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(48): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01358.hp1 HG01884.hp2 HG02080.hp2 HG02615.hp1 HG02683.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03490.hp2 HG03688.hp2 HG03927.hp1 HG04228.hp1 NA18944.hp1 NA18954.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19005.hp2 NA19065.hp2 NA19070.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0031 a0001c0001t0049 a0001c0001t0064 a0001c0001t0074 a0001c0001t0085 a0001c0001t0087 a0001c0003t0012 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0079 a0001c0010t0001	a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0072 others(48): Show a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0002g0083 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0116 a0001c0001t0003g0167 a0001c0001t0004g0259 a0001c0001t0005g0255 a0001c0001t0006g0085 a0001c0001t0006g0095 a0001c0001t0007g0307 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0008g0023 a0001c0001t0008g0032 a0001c0001t0008g0041 a0001c0001t0011g0124 a0001c0001t0011g0166 a0001c0001t0013g0027 a0001c0001t0020g0160 a0001c0001t0022g0046 a0001c0001t0031g0242 a0001c0001t0049g0197 a0001c0001t0064g0136 a0001c0001t0074g0155 a0001c0001t0085g0302 a0001c0001t0087g0296 a0001c0003t0012g0118 a0001c0003t0016g0221 a0001c0003t0016g0230 a0001c0003t0017g0119 a0001c0003t0021g0277 a0001c0003t0079g0288 a0001c0010t0001g0138	51	336	0.1518	-1110	c.118 others(19): Show c.1182+3774_1183-3327del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22						chr17	TogoVar
ATXN1_chr6_16294112_16766460	16614734	CGAACATG others(1103): Show CGAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGTTGCATGCCTGTAATCCCAGATACTTGGGAGTCTGAGGCCGGAG AATCACTTGAGCCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGTGC CACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTTGATAAAATA AAATGAAATAAAATAAAATAATATAAATACAAATGACAAATTTTCTAGAA ACATTAAAATGCTTTAATATTAATTTAAGAAGTAAAAATCCTGATCAAAA AAATTATTATAGACAAACTTTTAGGGGTGGGGAGGCTTTCATAATATAAC AACCAAAAAATGACATAATTCTAATAACTTTGGGGACAGGTAATTTCAAA GCTTCCAGGATGCTACATGTGCCTTAATGGGGGCAAAGGTACCCTTCCTT TCTCTCACTTTTCTTCTCCTTGAGGCAACTCAGAGGAGCGATTGTGGAAA TTTCCGAAGCTGCTATATGTCAGCTTGCCCATTTGTATGGAATTTCATGG TTTTTTTGACAAGTCAGTCTTTTTGTCATCATCGCATCTTGAAAGTAGAG AGGAAAGGAATGGAAGGGAGAACTGTTACTATCAGAGGCTTCTGGAAATC CCCGCTTGATGGTACATGACTCTTTCTTAAGAATGGTTCTCTTTTACGGG TTGCCATTTTGGTGACAATTGGTGCACTCAGCTCTACCTCTTGGTGGGCC CCAGTATACTTCAGCATGATCTCAGTTCTTTCTTTCTCTACCAGTTTCCA TGATACATACATCCTGAAAATCACAGCATCACCATTCAATAGACAAAAAT TATCATTATCAAAGCGGCCAAAAAGGTTTTCTCTTAAATATTCTGTGGGA AAGAGGGTTGAAAATTAGAATAGAATACTATGTATTTGCCACAGTAAAAG ATACCTACCACAAACCAGTAGCCAATATTATATTAAAAGTTAAAAACAAG AGTCAATGATTAAATTCAGGCTGCATGCGGTGGCTCATGCCTGTAACCCC AGCACTTTGGGAGGCTGAGCGGGTGGATCACTTGAGGTCAGGAGTTTGAG ACCAGCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0033 a0002c0003t0013g0033	1	179	0.0056	-1110	c.-48 others(21): Show c.-488-29937_-488-28828del		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
ATXN1_chr6_16294112_16766460	16614881	TGCCACTG others(1103): Show TGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTTGATAAA ATAAAATGAAATAAAATAAAATAATATAAATACAAATGACAAATTTTCTA GAAACATTAAAATGCTTTAATATTAATTTAAGAAGTAAAAATCCTGATCA AAAAAATTATTATAGACAAACTTTTAGGGGTGGGGAGGCTTTCATAATAT AACAACCAAAAAATGACATAATTCTAATAACTTTGGGGACAGGTAATTTC AAAGCTTCCAGGATGCTACATGTGCCTTAATGGGGGCAAAGGTACCCTTC CTTTCTCTCACTTTTCTTCTCCTTGAGGCAACTCAGAGGAGCGATTGTGG AAATTTCCGAAGCTGCTATATGTCAGCTTGCCCATTTGTATGGAATTTCA TGGTTTTTTTGACAAGTCAGTCTTTTTGTCATCATCGCATCTTGAAAGTA GAGAGGAAAGGAATGGAAGGGAGAACTGTTACTATCAGAGGCTTCTGGAA ATCCCCGCTTGATGGTACATGACTCTTTCTTAAGAATGGTTCTCTTTTAC GGGTTGCCATTTTGGTGACAATTGGTGCACTCAGCTCTACCTCTTGGTGG GCCCCAGTATACTTCAGCATGATCTCAGTTCTTTCTTTCTCTACCAGTTT CCATGATACATACATCCTGAAAATCACAGCATCACCATTCAATAGACAAA AATTATCATTATCAAAGCGGCCAAAAAGGTTTTCTCTTAAATATTCTGTG GGAAAGAGGGTTGAAAATTAGAATAGAATACTATGTATTTGCCACAGTAA AAGATACCTACCACAAACCAGTAGCCAATATTATATTAAAAGTTAAAAAC AAGAGTCAATGATTAAATTCAGGCTGCATGCGGTGGCTCATGCCTGTAAC CCCAGCACTTTGGGAGGCTGAGCGGGTGGATCACTTGAGGTCAGGAGTTT GAGACCAGCCTGGTGAACATGGTGAAACTCCGTCTCTACTAAAAATACAA AAATTAGCCAGGCATGGTGTTGCATGCCTGTAATCCCAGATATTTGGGAG TCTGTGGCCGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAATGAGC CAAGATCGTGC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0015 a0001c0020t0015	a0001c0020t0015g0125 a0001c0020t0015g0125	1	180	0.0056	-1110	c.-48 others(21): Show c.-488-30084_-488-28975del		ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7						chr6	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(1103): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCC TGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC CAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAG GCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTG ATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp1 HG03041.hp2 others(2): Show HG00544.hp2 HG02080.hp1 HG03041.hp2 NA18999.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0043 a0001c0002 a0001c0007 a0001c0043	a0001c0002t0001 a0001c0007t0003 a0001c0043t0007 a0001c0002t0001 a0001c0007t0003 a0001c0043t0007	a0001c0002t0001g0032 a0001c0002t0001g0173 a0001c0007t0003g0035 others(2): Show a0001c0002t0001g0032 a0001c0002t0001g0173 a0001c0007t0003g0035 a0001c0007t0003g0055 a0001c0043t0007g0117	5	99	0.0505	-1110	c.226 others(19): Show c.2267+4773_2268-3894del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(1103): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCC TGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC CAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAG GCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTG ATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0002 a0002c0020t0002	a0002c0020t0002g0014 a0002c0020t0002g0014	1	131	0.0076	-1110	c.226 others(19): Show c.2268-4515_2268-3406del		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL26A1_chr7_101357875_101564024	101415876	TCCCACCT others(1102): Show TCCCACCTCAGCCTTCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCA CCCAACCCCTTTCACGTATTTTTGAGTGTGCTAGTACTGGTAATATGTAT TTTCCTAGAAAATTGTCCAGTAGTCAGGATTTTTGAAATTTTTTGATGTA AGATTATACCTAATATTTGCTTATACATTTAAATCTCTATATGGAATTTT TTTTTCTTGTTCTTCATGTCTATTAAACCTGAGTTTAGCAGGGCATGGTG GCACACGCCTGGAATCCCAGCCCTTTGGGAAGCCGAGGTGGGACGATCAC CTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGCTAGACCCTGTT TCTACAAAAATGCAAAAGTTAGCCAGCATGTTGGCGCACACCTGTGGTCC CAGCTATCTGGGAGGCTGAGATGGGAGGATTGCATGAGCCCAGGAGGTTG AGGCTGTGGTGAGCCATGATCATGCCACTACACTCCTGACCTCAAGTGAT CCACCCACCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCTACCA CACCCAGCCTGAACTCATGTCTTTCTTCAGCTCTTGTAAATTTTCTTGTT ATTTCTTCAAGTACATGCTTCTCTTTGTTCTTTTTTGATCATGCCTTCCA GAGCTACTACTATATAGATGTTGGTCCTTGGTCTTCCTCTAGGTCCCTTG TTGCCTGTTTCTGCCTGTTTTCCATCTCCTTTTCTTTTTGCAGTGGCTAC TGGGAAAGGTCACAGCTTAGATTTGCAGCTCATCGGTTTGCCCTTTAGCT GTTTCCATTCTGTTTTTCATAGTCATACATTTCACTTCTAAGATAATGCA TTTTTTTAATTTCATTTTTTTTGTGTGTGTATGTCACAGGGTCTTGCTCT GTCACCCAGTGTGGAGTGCAGCGGTGCGATCATGGCTCACTGCAGTCTCA AACTCCTGTGCTCCAGCGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGG ACCACAGGCATGTCAGGGACCATGCCTGGCTAATTTTTGTATATTTTTGT AGATACAGTGTTTCACCATGTTGCCCAGGCTGGTCTAAACTCCTGGGGTC AAGCTATCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01074.hp2 others(19): Show HG00140.hp1 HG00280.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01257.hp2 HG01346.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03669.hp1 HG03704.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0013 a0002c0003 a0002c0004 a0002c0007	a0001c0001t0002 a0001c0001t0005 a0001c0002t0006 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0006 a0001c0005t0002 a0001c0008t0007 a0001c0013t0010 a0002c0003t0001 a0002c0004t0001 a0002c0004t0024 a0002c0007t0004	a0001c0001t0002g0146 a0001c0001t0005g0059 a0001c0001t0005g0080 others(19): Show a0001c0001t0002g0146 a0001c0001t0005g0059 a0001c0001t0005g0080 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0147 a0001c0001t0005g0154 a0001c0002t0006g0003 a0001c0005t0002g0170 a0001c0008t0007g0071 a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0079 a0001c0013t0010g0038 a0002c0003t0001g0096 a0002c0003t0001g0148 a0002c0003t0001g0158 a0002c0004t0001g0072 a0002c0004t0001g0171 a0002c0004t0001g0172 a0002c0004t0024g0099 a0002c0007t0004g0008	22	172	0.1279	-1109	c.159 others(17): Show c.159-4097_159-2989del		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB6_chr22_43523778_43817305	43630854	ATTAGGAC others(1102): Show ATTAGGACCAATCCGTCTCCATGTATGCATATGGCGATCATATTTTTTCA AACCAAAAATTAGGATGCACATTCTGAAAACTGGACAGAATGTTCAAAAT CTGAGCCCTGCTAGAAAGTCTAAGCTGGACTGATGTCATAAATACACGGG CATGTGGAAACGGGAGCCTGGTAACCAAAATGAATCTCCAGGGGTGATCA GTCTGGGGAGGTGCCTCAGAGCACAGGAAATGGGGTGTTGCCCTCCCCAC AGCCCCCCAGGCTGCTCTGATACCCAGTCTCTCGCCCGTCCCTTCCCTTC TGGACTTCACCCATCTCCATTCTGCCTCTGGATGTGTTCCCTCCACCCAC GGGGTGAGGATGCAGTCTAACTCCCTGATACCCTCGGCCCTGTCTCGGGG TTCGCCTTATTGACTTGATCGCCCTAACTTTATTCACCCTCTTTTACTTC TCATCACAAAAAGAGCTCAGATCATCTTGTACTGGCCTCTATGTTTGAAT GGCTGCTGTCTACTTCTGTTTTGTCTGTTACAACTTGCACGCGCCACGCA CACCTCCACCACGACAAGCCACATGCTTTTCCCCAGAGCCCATGCCTCAT CTGTCCCGGCCTGGCTCAGGCTGCCTCATCTATGGCTCCCTCCTTTCCTG GCCAGCCCAGGCTTAGGCCTTACGATTCAGTGTGGGGGCCACCTCCTCCA GGGAGTCCTCCTTAAAGGGATCTTTTCCTTGTGCCTCCAGAGGATGCTCC AGTTCCTTCGACAACAGCCAATTACTATGAATATGACTTGTCTGTTTACC ATCTGTGTCTGGGATTAGACCGAGCTCCCTGGGGTGGGGCTGGTAGCTTT CATCCCCAGCATTTAGCACAGATTCTAGCACATAGTAAGTGTATAACACT TGTTTGGTGGGTGAATGGATGAGGGAATCAATGAGGGAATGGATGAACGC GTTTCAAAGTCACTGTACCATGGGTTGTCATGCTTCTTCTCCACCAACAT CCACCTCTTGTCAAAAGGGTCTCCTTAGCCTTCTGCCAGCAAAGTGTCCA CGGGGGTCCCTCAGGGAGGGAGGAAGCCCCATCCTCCCCACATGCCTCTC CCTGACCAAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	288	0.0035	-1109	c.223 others(18): Show c.2232+142_2232+1250del		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	19/31						chr22	TogoVar
TEX19_chr17_82354247_82368775	82360161	GTTCCCTC others(1102): Show GTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCCCAGGTTCCCCCAG TTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCA GGTTCCCTCAGGTTCCCCCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCCA GTTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCA GTTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTC AGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTC AAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGGTTCCCT CAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCCCAGTTTCCCT CAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCC TCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCC TCGGGTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCC CTCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTC CCCCAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTT CCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTT CCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAAGTT TCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGT TCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTTCCCCAGTTTCCCTCAGGT TCCCTCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGT TCCCCCAGTTTCCCTCAGTTTCCCTCAGGTTTCCTCAAGTTGCCTCAGTT TCCTTCAGGTTCCCTCAATTTCCATCAGGTCCCCTCAGGCTCTGCCAGTT TCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTT TCCCTCAGGTTCCCCCAGTTTCCCCCAGTTTCCCTCAAGTTTCCCTCAGG TTCCCCCAGT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19012.hp2 NA19077.hp1 NA18962.hp1 NA19012.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	199	0.0151	-1109	c.-27 others(17): Show c.-272+892_-271-595del		TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr17	TogoVar
ADARB2_chr10_1172313_1742525	1235689	TCTGCCTC others(1101): Show TCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTT CAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAG AGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCC ACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGAT TTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACG TAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTA GGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGC GAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAG TTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACC AGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGG CGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTCACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGT GTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCA TGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATT TGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCC ACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTT CTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18522.hp2 NA19086.hp1 HG04184.hp1 NA18522.hp2 NA19086.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0010c0012 a0001c0001 a0001c0003 a0010c0012	a0001c0001t0009 a0001c0003t0009 a0010c0012t0007 a0001c0001t0009 a0001c0003t0009 a0010c0012t0007	a0001c0001t0009g0054 a0001c0003t0009g0046 a0010c0012t0007g0006 a0001c0001t0009g0054 a0001c0003t0009g0046 a0010c0012t0007g0006	3	87	0.0345	-1108	c.136 others(19): Show c.1362-2952_1362-1845del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
DENND1C_chr19_6462207_6486787	6485679	TGGGGTTT others(1101): Show TGGGGTTTCACCATCTTGGCCAAGCTGGTCTTGGACTCCTGACCTCGTGA TCCACTGATCCACCCGCCTCGGCCTCCAAAAGTACTGGGATTACAGCCAT GAGCCACCACGCCCGGCCCTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGA CGGAGCCTTGCTCTGTCACCCAGGCTGGCTGGAGTACAGTGGCGCAATCA TTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCC GAATAGCTGGGATTACAGGTGACCGCCACCACGCCCGGCTAATTTTTGTG TGTGTGTTTTAGTAGAGATCTGGTTTCCCCATGTTGGCCAGGCTGGTCTT GAACTCCTGACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGG GATTACAGGTATGAGCCACCGTGCCTGGTCAGCTCAGCTAATTTTAAAAA ATATTTTTGTAGAGATGGGGTTTCGCTTTATTGCCTGGTCTGGTCTTGAA CTTCTGGCCTCCAGCAATCCCCAGGCCTCGGTCTTCCAAAGTGAATGGGA TTACAAGCACGAGCCACAGTGCCCAGCCTGTTTTTATTTTTATTTTATTT ATTTATTTATTTTTTGAGATGAAGTCTCACTGTCGCCCAGGCTGGAGTGC AGTGGCGTGATCTTGGCTCACTGCAAGCTCCACTTCCCAGATTTATGGCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACC ACGCCTGGCTGATTTTTTTGTATTTTTGGTAGAGACGGGGTTTCACCGTG TTAGCCAAGGTGGTCTGGATCTCCTGACTTAGTGATTCACCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCTG TTTTTATTTTTTTAATTATTTTAAGAGATGGGGTCTCCCTCTCTGTGTCT CCTAGGCTGGAGTGCAGTGGTACCATTATAGCTCAATGCCACCTGTAACT CCTTGGCTCAAGTGATCCTCCCACCTCAGCCTCTTGAGCAACTAGGGTTA TAGGCACAGCCACCACACATCGTTAATTTTTTTGTTGTTTTTGAGACGGA GTTTCACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA19055.hp2 NA18964.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0171 a0001c0001t0001g0005 a0001c0002t0001g0171	2	418	0.0048	-1108	c.-50 others(11): Show c.-5092_-3985del		DENND1C	ENSG00000205744.10	transcript	ENST00000381480.7	protein_coding					3893		chr19	TogoVar
GSDMC_chr8_129743196_129791624	129780905	TGTAGAGT others(1101): Show TGTAGAGTTTTTATTAGTTTTCTGTTTGTGTTTGTTTGTTTATGCAATCA CTGTTGTCATCTATTTAAAATAATGAGTTTTAAGATAGCATTTGCAAGCC TCATAGTAATTTCAAATCTAAAAACATACAATGAATAAGCAAAAAATGAA AAGCAAGAAATTGAAATATACCATCAGTGAAGATTACCTTCACTAAAAGG AAGAAGAAAAAGAAGAAACAGAAGATCACAAAACAACCAGAAAACAAAAA ATAAAATACCAAAAGTACTCACTTATTAGTAATAACATTAAATGTAAATG AACTAAACTGTCCAATCTAAAGACATAGAGTGGTTGAATTAATTAAAAAA ACAAGACCCAATGATCTGTTACCTACAAGAAACACACTTCTCCTATAAAG ATAAACATGGAATAAAAACACAGGAATGGAAAATATATTCGTGTCAATGA AAACCAAAAAAGAGCAGGAATAGCTATACTTGTATCAGACAAAATAGATT TAGATTCAGATTAGAGCTAAAGAGATAGACCCCAATGCAATAATAGCTAG AGACTTCAGGCGAGACGCGATGGCTCACGCCTGTAATCCCAGCATTTTTG GAGGCCGAGACGGGCAGATCACGAGGTCAGGAGATCGAGACCGTCCTGGC TAACACGGTGAAACCCTGTCTCTATTAAAAACACAAAAAAATTAGCCAGG CGTGGTGGTGGGCACCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGA GAATGGCGTGAACCCAGGAGGTGGAGCTTGCAGTGGGCCGAGCGGAGATC GCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAA AAAAAAAAAAATAGCTAGAGACTTCAACATCTCACTTTCAGCATTGGACA GATCTCCCAGACAGAAAATCAACAAGGAAACTTTGGACTCAGTCTGTACT ATAGAACAAATGAACCTAATAGGTATTTACAGAACATTTTATCCAATGGA TGCAGAATACACATTTTTCTCCTCATCACATGGATCATTCTCAAGCGTAG ACCATATTTTAGGTCACAGAACCAGTCTTAAAACACTCAAAAAGTTGAAA TAATATAAC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0149	1	414	0.0024	-1108	c.-5+ others(15): Show c.-5+3998_-4-3315del		GSDMC	ENSG00000147697.10	transcript	ENST00000276708.9	protein_coding	1/13						chr8	TogoVar
KLRG1_chr12_8984546_9015751	9002672	CCCTCCTG others(1101): Show CCCTCCTGTCTCAGCCTCCTAAGTAGCTGGGACTACAGGCATGTGCCACC ATGCCCAGCTAATTTTCATATTTTTTGTATTAATGGAGTTTTGCCATGTT GCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGAGATTTTCCTGCCTTGGC CTCTCAAAGTGCTGGAAGTACAGATGTGAGCCACTGCACCAGACCGATTT GTACTTTCATGCTGCTTCTATATTCTCTCTCTTTCTAATACACACACACA CACACACACACACACACACACACATTATCCATGAGTACATAGAATATAAG GTTATTGTACTATGGTTTTGAAGGCCTCTTCCAAGTGGGAAGATTTTCGA GTGAAAGTGCCATAATAAACATTTTCAATATCCAGCCTCACCAATGAGAA GTTGTAAGAGGACTGACTGATCAAGTGATTTAGAATTATATGGGTCTTGA GGGTAGTAAATGAGCACAGGATTGGGGTTTGTACGTGGGCATTACCTAAT CCTAGCTCTGCAGATTCTAACTGAAATTTCTGAGCAAATCTTTATCAATT TCTGTGCTTCATTAGCTGCCGTTCCTCCTCTTGAAATGAAAGAAAAAGAA ATGGACTGTTTTTCTCATTATCAGTGGAGAAATGGGGAATCACTCTTTTT TTCCTTTTGTTAATTTTATTTATTTTTTCAAATATTTAGCTTACAATTTT TGATTTGAATATACTCAAATTTTATATACTTTGAATGCAGTAACATTTAT TTTTGAATCTTTTAGATCATGGCTATCATTCACACCAATTTTGTGAAAAT ATTAAAAAAAATCCATTCTTTTTTTCCTAATTTAAATAATTCTTTAAACA AGTTGGTTAAGAAATGCAAAAATTTTAAGCTATCTTGAAAATTACAGTGT CATTTCATCTGTCGTATACTTCATTCACTCTCCGGTCTACCTTCTTACCC CCAGCATGCACAGTTAAGTGCTCCACAGAGAGAAAGTAAAAAATACAGAG TTTGTGTTCAGAGGGTTTTTTTTTTCTTTTTCTTTTTTATTATTATTATA CTTTAAGTTTTAGGGTACATGTTCACAATGTGCAGGTTAGTTACATATGT ATACATGTG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0048	1	362	0.0028	-1108	c.358 others(17): Show c.358-6300_358-5193del		KLRG1	ENSG00000139187.10	transcript	ENST00000356986.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
SPATA13_chr13_24155720_24312069	24268498	CCTGTAGT others(1101): Show CCTGTAGTCCCAGCACTTTGGGAGGCCGAGGTGGGCAGACCACCTGAGGT CAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCTCATCTCTACTA CAAATACAAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTT GCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGCAA GACTCCATCTCAAAATGAAATAAAATTTCTGTAAGAGAAAGATTTTCAGC TGAACTGGTCATAAGAGTTTGTGTGATCGTGTGTGTTTTTCACTTGTAGT GCGGGTTACTAAGGCTATGAGTTTCCCAGAAAACTGTCCTTACCTGGATT TGAGGGTGGGATGCTCCAGATCAATAGAAATAGCCACAGATATTTGAAGA TAAGAGAAGCCTACGATATAGTATATAGTCAACATGTGTGTTATTACTAA TCATACAGCTTTCCATTCTGAGTTCATGCTGTGATTTCTCTGGGAACTAG CATGTTATTAAGGGACCTCAGGTTTTTTGGAGCGACAGCAGCAGCGTGAC GGCTAACATTTATTAACCCCCAATGAAGAGCCAGTGCTTCTCTAAACACT GCAATATGTTCTCGAGTAATTCTGTGAGGATTATTGATTGGTGCTGCAGT TATCCCCACTCCGCAGATGTGGAAAGAGAGCTGCCTAGAGACTTGGAAAC TTTCCCTAATTTTGTTATGGGAAAGCAGCTTTTGAACACAGGCAGTCTGA CTCCAAAGCTCATCACTATAAAGCATGCATTTTACTAATTGGCACTATCA CTTGTTTAACATGTATGTATGTATGTGTGTATGTATGTATGTGTGTATGT ATGTATGTATCTATTTTAGAGACAGGATCTAGCTCTGTAACTCACAACAC TGGAGTGCAGTGGTGTGATTATAGTTTACTGCAACCTCGAACTCCTGGGC TCAAGTGATCCTCCCATCTCAGACTCCTGAGTAACTAGGATGACAGGCAT GTGCCACTCTGCCCAGCTAATTTTTTATTTTTATTTTTAGAGACAGGATC TTATTCTGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0202 a0001c0002t0016g0202	1	354	0.0028	-1108	c.216 others(21): Show c.2165-15635_2165-14528del		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SRGAP2B_chr1_144882288_145100328	144882870	CGGGGGGG others(1101): Show CGGGGGGGAAAAAGCCGCGGCGGCAAAAAGCCGGGTCGGGCAAAAAGCCG CGTCGGCGGGGGGGAAAAAGCCGCGGCGGCAAAAAGCCGGGTCGGGCAAA AAGCCGCGGAGGCAAAAAAAGCCGCGGTGGCAGGGGGCAAAAAGCCGCGG CGGGCAGAAAGTCCTGGGGGCGGGGGGCAAAAAGCCACGGCCGGCAAAAA ACCGCGGCGGCAGGGGGCAAAAAGCCGGGTCTGGCAAAAAGCCGTGGAGG CAAAAAGCCGCGGTGGGCAGAAAGCCATGGCGGCGGGGTGCAAAAAGCCG CAGCGGGCAGAAAGCCGCGGCGGGGGGGCAAAAAGCCGCGGCCCGCAAAA AGCAGCGGCGGCGGGGGTGCAAAAAGCCGCTGCGGGCAAATAAGTGCGGC ACCGGCGGGGGGGGTAAAAGGCCGGGTCGGGCAAAAAGCCACGGCGGCGG GGGTGCAAAAAGCCACAGCGGCGCGGGGGAAAAAGCCGTGGCGGGCAGAA AGGCGCGGCGGCGTGGGGGAAAAAGCCGCGGCGTTGGGGGCAAAAAGCCG CGGTGGCGGGGGGGCAAAAAGCTGCGGTGGCGGGGGGGCAAAAAGCCGTG ACCGGCAAAAAGCCGTGGTGGCGGGGAACAAAAAGCCGCGGCGGCGGGGG CGGGCAAAAAGCCGGGGCGGGCAAAACCCCGAGGCGCCGTGGGGGCAAAA AGCCGGGGCGGGCAAAAAGCCGGGGCGGGCAAAAACCCGCGGCGGCGGTG GGGCAAAAAGCTGGAGCGGGTAAAAAGCCGCGGCAACAAAAAGCCTCGGC GGCGGGGGCGCAAAAAGCCGCGGTGGGCATAAACCCGAGGCGGCGGGGGG GGGGGGGTGCAAAAAACCGCCGTGGGGAAAAAGCCGCGGCGGTGGGGGGC AAAATCCCGCGGCGGGCAAAAAGCCGCGGCGGCGAGGGGGGTCACAACAA AGCCGCGGCGGGCAAAAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGG AAGCCGCGGCGGCGGGGGGCGAAAAGCCACGGCGGCGGGGGGTAAAAAGC CGCGGCGGTCAAAAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGGAAG CCGCGGCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02129.hp2 HG00673.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0002g0017 a0001c0001t0001g0045 a0001c0001t0002g0017	2	53	0.0377	-1108	c.81 others(11): Show c.8182_*9289del		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					4417		chr1	TogoVar
UNC5C_chr4_95157504_95553973	95325337	AGGCCAAA others(1101): Show AGGCCAAAATAAAGAAGATGTAGGTGGCTATTTAGATAATCAAAGAGCTA TATATTAAAGAGTAGAAGGGGAGTATAAGCAAGACTTAAAACAGAAGGAT AATTTGAAAATAAATTGGCAAGACTTGATGATCATTTTGCTTGTTGGAGT GAAGGATGAAGCTGAGATTTTAATTTTTGGTGCCTGGATGGAGAGAAGAG GTATCTGAAACAGGAATACAAAAGGAGGAAGATTTTCAGTGTTCCCACTC CTGCAACAAATGGGGACTTGAGTAAGCACAGTATACCTAAGTCTAGGTTT TGATTAGAAGCAATTCACTTAAATTTATGCCCAATTATAGCTTCTCTTCA TCAATTCCTTTTTTCCATTAAGGCTGACTGTTTGCTAATTGGCCAAAGAG CAAAGGCCTTCAAGAATGGAAAACCAGACCCTAAGCACTAGCTTATGTTA TTATGTTAAAGAATCACAAAGGTCTGCATGTGGAAAACCTGACACAAGGC AAGGAAGGCAAATAAAACATGAAAAATGCACATACAGCTGACACTCTGAA GCAGCCCTTCTCTTCCTGGGAAAACAAATAATTGTATTGCATAGCTCTTT TTTAGACTAACTGTTCTGTGTTCAGTAGTTATGGTAAAATTTAGGGAGAC ACCAGGCGCAGGGCCAAGAGCAAAGGTTTTGGAAGCAGAGAGCTCTGGGT TCATATCCTGGCTGTGTCACTTCCTCATTAAGTGATTTGAGGCAAGTTTG TTTCTTCATCCTGCAGAGCCTCAGATTCCTAATTTACCAAAGGAGAATCT TAGAAATTATCTCATAAGACACTTGTGATGACTAAAGAACAGAATACATG TAAGGTGCTCAGTATAAGGCCTGGAACTTTTATTTTTGTTGTGTTGACCT TATTGATATTTTCTGCTAACTTGAGAATAATTAAAGATGAAAAAGGAAAA TCTCAGGGATTATTACAATTTCAACATAACCATGGTTTTCTAATCTCCTT TGCTTCTTCATAGAGAAAAAAATATTTGCTTTTAGATGGTAGATCTTAGG TACCATGGAAACAAGAGTTGAAAAGGCTTCAAGTAAATAGAAAGCAAACA GCTGAGCCT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0060 a0002c0007t0002g0060	1	204	0.0049	-1108	c.346 others(18): Show c.346+8965_346+10072del		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	2/15						chr4	TogoVar
ZNF516_chr18_76352682_76500242	76393286	CAGGTGGT others(1101): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG AAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	343	0.0029	-1108	c.181 others(21): Show c.1811-14091_1811-12984del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393590	CGGGTGGT others(1101): Show CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0240 a0001c0001t0071g0240	1	344	0.0029	-1108	c.181 others(21): Show c.1811-14395_1811-13288del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
CCDC77_chr12_396644_447642	419855	TTCCATTA others(1100): Show TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACA CACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTA CAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACAT AGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAG CAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTG CACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGC ACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACC CTCCATGC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0267 a0003c0003t0002g0267	1	398	0.0025	-1107	c.413 others(17): Show c.413+1293_413+2399del		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
OR6J1_chr14_22625929_22649352	22638089	CCGGCCGC others(1100): Show CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCC CGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGGGCCATGATGACAA TGGCGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGA AATCAGATGGTTGCCGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTT TTCATTTTGTTCTGTACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTG ATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTC CACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAAC AGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCACTCCCTAATC TTAAGTACCCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGCC TAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTC CACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAA GAATGATCAATAAAAAAAATAAAAATAAAAAAAAAATAAAAAAAATTAAG ACACTAGCAAGATACCATTTTATACCCACTATATTGTCAAGAAGCAAAAA TATGACAATAACAAGTGTTGACGAGGATGTGGAGACTTAAAAAATTTACA CTGCTAGGTGAGGAGCCCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGG AGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTT CCCAGCCGCCATCACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCC CATCGTCTGAGATGTGGGGAGCGCCTCTGCCCCGCCGCCCCATCTGGGAT GTGAGGAGCGCCTCTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCG TCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCA ACCACCCCATCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGT CTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTG AGGAGCGT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	360	0.0028	-1107	c.-27 others(17): Show c.-27-4358_-27-3252del		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
TMPRSS2_chr21_41459305_41513158	41474394	GGTGAGGA others(1100): Show GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGATGAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGCGA GGGGGTGAGTGAGGGGGCGAGGGGGTGAGGGGTGAGTGAGGGGGTGAGGG GGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGCGGGT GAGTGAGGAGGTGAGGGGGTGAGTGAGGAGATGAGGGGGTGAGTGAGGGG GTGAGGGGGTGAGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGG GGTGGGTGAGGTGGTGAGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGAG TGAGGGGGTGAAGGGGTGAGTGAGGGGGTGAGGGGGTGGGTGAGGGGTGG GTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGATGAGGGAGT GAGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAG GGGTGAGTGAGGGGGGTGAGGGGTAAGGAGGTGAGGGGGTGGGTGAGGGG TGGGTGAGGTGGTGGGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGAGTG AGGGGATGAGGGAGTAATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAA GGCATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGA AGGTGTGAGTGAGGAGGTGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGT GAATGGGTGAGAGAGGGGGTGAGTGAGGGGTGAAGGGATGAGTGAGGGGG TAAGTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGTGTG AGTGAGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTGAGGGGGTGAGG GGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGATGAAGGGGTGAGTGA GGGGGTGCAGGGGTGAGTGAGGGGGTGAGGGGTGAATGAGGGGTTGAGTA GGGGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	160	0.0063	-1107	c.727 others(16): Show c.727+1076_728-899del		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
HS3ST3B1_chr17_14296081_14354404	14337600	GTGCTGGG others(1099): Show GTGCTGGGATTACAGGTGTGAGCCATTGCACCTGACCTGCCTGATTGGAA TGGATTTGTTCTTTTCTCTGCAGTTTGTAGACCATCAGGACACAAGCCCT CACTGGCCCTGGGAGGTGATCTACAGGCAGCTGAGCGTGTGACCTTCACT CCTCTAGCCATGACTCAAATAGCTAGTCTTGGATTAGCTGAACAACTTTC AGTTCTGCTGACAATGTTGTCTTCTCATTTTTTCCCCCCACGAAGGTGGA CCTCTATACCCACATAGTATCTCCACTTAGGTGCACATGAATATCAGCAG AATACATGACTAGATTATGACAAGTTCCAGGCCCACAGATGCCACAGCAT AATGGTTTCCAGTCCTGCTTGCACATTAGAATCATCTAAAAGAATCCCAT GTTGAAGCCCCACCCATCCAGGGCCTGATTCAATGGGTGTGGGGAGGGGC CAGGCATATAACGCCAGTTAAAAGCACCCTGCATGATTTAAAATGCTTCC AGGGATGGAACTGAGTGCCACAGAGGTGGCGTATACCATTTGTTTTAGAC GGAGTCTTGTTCTGTCACCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTC ACTGCAACCTCCACCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCC GGAGTGACTGGGACTACAGGTGCGTGCCGCCACGCCCGGCTAATTTTTTG TATTTTAGTAGAGATGGGGTTTCATCATGTTAGCCAGGACGGTCTCGATC TCCTGACCTTGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTAC AGATGTGAGCCAACACGCCCAGCCCATATACCTTTCTTTGTTTTGGTTTG TTTGTTTTTTGAGATGCAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAA TGGCACCATCTCGGCTCACTGCAACCTCTGCGTCCCAGGTTCAAGTGATT CTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGTGTGTGCCACTGC GCCTGGCTAATTTTTGTATTTTTAGTAGAGATTAGGTTTTTACATGTTGG CCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAGCTGCCTTAGCCT CCCATAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02723.hp1 others(1): Show HG01109.hp2 HG01243.hp2 HG02723.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0044 a0001c0001t0068 a0001c0001t0084 others(1): Show a0001c0001t0044 a0001c0001t0068 a0001c0001t0084 a0001c0002t0067	a0001c0001t0044g0240 a0001c0001t0068g0303 a0001c0001t0084g0101 others(1): Show a0001c0001t0044g0240 a0001c0001t0068g0303 a0001c0001t0084g0101 a0001c0002t0067g0017	4	430	0.0093	-1106	c.555 others(17): Show c.555-7403_555-6298del		HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(1099): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGA ACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC CCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGAC CCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACAC AGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCT CAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCT CCCAACG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	219	0.0046	-1106	c.981 others(17): Show c.981+1247_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
SBF2_chr11_9773668_10299219	10271181	ACAGCAAT others(1099): Show ACAGCAATCTTGATTCTTTTTTTTTTTTTTTTTTGAAGTTAAGAATTCTT TTAGGTTGTAATATTTTCATGTTAGTTTTTAATCATTTACAATGTTCTGT GGGTCACATTTTAAACATTTTTAAATATATGAAATTCTGTATTTCTTTAA GTACAGCCACAACTACAAAGCAGAGAAACGTAAGAATACAAAAATCAAAT CTGCTTCATTTATATACACGATGGGGCAGCCTAATGCACATCATAACATT AACTTTTCCAAAGAAGTTTGCTAAGAATCTGCTCCCATAATTAGTGTTAA AAATAAAGCAATCTTCCCATTTAGAAAAATCAAGACATCAGTTGATTAAT AAAGCCTATTCTTCCTCCCAGCAATTTGTACTTTCTGGTCTTCATTTAGG AATTATAAATTCATGAGAAAAGAACAAATTTTTTATGGAATAAATAACTT CCAGGAACAACAGTTTATAAGTATTCAGTTGTTTAAATAAACAAAACTAT TTTCCTTCCTAAAATGTAAACATCCAGTAAATGAAACATACATGATATTC CAGGTATAGAAATCTTAGTAACTCACTTATGAAAGAGGTGCATTTTGGTA TGTTTGGTGGTAAGGTTTTTGTTTATCTTATGTATAAAAGTACTTGCACA AAAAAACAAGCAGTTATTACTATTTAAAATTCTATTCCTTCACCCAGTTT TCTCACTCAAGTAGAAACTCATGAATATCTGTGATTTTGGCTATAGGACC AGGCCACAGGAAAGGGCTGAAATATCTCTAAAAGTTAGGTAAAAGTGTTT TCTTGAGACTTGAAGGCAGTCATTCATCACTTTGTGCTTGAAGGCATTCC TCAGCAAACTTCTCTCGAGTCTTCAGAGTAAAGCACAGGATCTAGGCTCC CGGAAGGGGTTACTTCCAGCTGGAACACCCACCAGCAGGGCATCCTTGCA GGCATTCTGCATACAGTACTGTTGAAGCTCTGCAGCTGCCTGAGAGACCT TGATCCTCTCCACGCCAGCCTCCAACTTGAGCTGCTCTACCAAGAGCTGC AGGGCGCTCGCGCTAGCCCCGGAGGACATGGCGGCGGCGCTGGGCTCCTA GGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(106): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19082.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012 a0001c0018 a0002c0002 a0003c0004 a0004c0006 a0005c0010 a0006c0008 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0017 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0005t0001 a0001c0012t0005 a0001c0018t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 a0004c0006t0002 a0004c0006t0004 a0005c0010t0001 a0006c0008t0005 a0009c0014t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 others(106): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0162 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0067 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0004g0047 a0001c0001t0004g0061 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0005g0192 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0006g0004 a0001c0001t0007g0187 a0001c0001t0007g0208 a0001c0001t0007g0212 a0001c0001t0012g0001 a0001c0001t0017g0173 a0001c0003t0001g0161 a0001c0003t0001g0166 a0001c0003t0002g0018 a0001c0003t0002g0155 a0001c0003t0002g0160 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0175 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0159 a0001c0003t0004g0205 a0001c0003t0005g0163 a0001c0003t0005g0186 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0012t0005g0194 a0001c0018t0001g0046 a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0003g0035 a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0019 a0002c0002t0004g0063 a0002c0002t0004g0215 a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0021 a0003c0004t0003g0022 a0003c0004t0003g0027 a0003c0004t0003g0031 a0003c0004t0003g0068 a0003c0004t0003g0178 a0004c0006t0002g0016 a0004c0006t0004g0213 a0004c0006t0004g0218 a0005c0010t0001g0084 a0005c0010t0001g0174 a0006c0008t0005g0056 a0006c0008t0005g0057 a0009c0014t0002g0065	109	222	0.4910	-1106	c.55+ others(17): Show c.55+21728_55+22833del		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39						chr11	TogoVar
VNN2_chr6_132738870_132762904	132758188	GTGCGCGC others(1099): Show GTGCGCGCCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGG TTTCACAATATTGGCCAGGCTGGTCTCAAACTCCTGATCTTGTGATCCAT CCACCTCAGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACT TGGCCTACTTTATAATCTTAAGAACGCAATATATCTGACCACTTTTAAAG AAAGAAAAGTTGCAGTCCATTTAAGACAATCAGAAAGTATTACAGGGATT GAACAGCATGTACTATTAGTACTAAGATTTAATATTGAATTTCCAAAAGA CACCCGAATTCAAATATAGAACAATTCCAGCTTTTGTTAATAGAAACTCA TAACTAACTCTCGTGTAAAAAAATCACATCCCAACAAATATCTCATTTAT TAAATTTAAAAATTGACAACAATTTTTTTGGTTCTGTTGAGTCACTTACA TTGTGTTTATTTTTAGACGGGGGGGAAAATATTAAATACTTACTACTAAG AAAATGTAACACAGGACAATATTGATAACAAAATTTACCCAAATCTACAC TCTGACTTACTTATTGCTATTAAGGACTGAAAACATGTGCTCCAGAAAAG CAGGATTTTGTGTCTGGTTTGTTCACTGCTGTATAGTTAGTGCCTACAGC AACAATACCCCGAGGCACCTAGGCCAGAGGAGGAATCTCAGCTCAGGGGC CCCAGGCCTCAGGATACTCCGCTTCTTTCCTTCTTTCTCTCTTTCACCCT TCCCTCCCCATCCTCCCCCTACTTCTCCTTCTCCTCCTACTCCTTCTCCT CCTTCTTTTTCCTCCCTCCCCACCCCCTGCTTTGGAGGAAGATGCCAGGG AAGGGGAAGAGTCCAGGATTGGTGATAAAGATCATCTGTGTTGTAATAAG GAGAAGATGTAACTTACATTTTTGTTAGCAGCAAATAACAACAATGAGTT TAAAAACAATGCTAACAGGCCAGGTGCAGTGGCTCATGCCTGTAATCCTA GCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCAAG ACCAGCCTGGCCAACATAGTGGAACCCCCCATCTCTACCAAAAACACAAA AAGTAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA19083.hp2 NA19091.hp2 NA18940.hp1 NA19083.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0002 a0001c0001t0002g0022	3	434	0.0069	-1106	c.-14 others(10): Show c.-1411_-306del		VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding					285		chr6	TogoVar
DOCK1_chr10_126900428_127457516	127260891	GTGCTCAT others(1098): Show GTGCTCATCTGTGTACCTGCACGTGTGTGCATGTGGGTGTGTGTGTGTAC CCGTGCTCATCTGTGTGTGTGCATGTGGGTGTGTGTGTGTGTACCCGTGC TCATGTGTGTGTACCTGCATGTGTGTGCATGTGGGTGTCTGTATGTGTGT ACCCGTGCTCATGTGTGTGTGCATGTGGGTGTGTGTGTACCTGTGCTCAT CTGTGTGTGTACCTGCATGTGTGTGCATGTGTGTGTGCCTGCATGTGTGT GCGTGTGTACCCGTGCTCATCTGTGTGTGTCCCTGCATGTGTGTGCATGC GGGTGTGTGTGTGTACCTGCATGTGTGTGCATGTGGGTGTGCGTGTGTGT ACCTGCATGTGTGTGCATGTGGGTGTGTGTGTGTGCCTGCATGTGTGTGC ATGTGGGTGTGTGTGTGTGTGCCTGCATGTGTGTGCATGTGGGTGTGCGT GTGTGTACCCGTGCTCATCTGTGTGTGTGCATGTGGGTGTGTGTGTACCT GCATGTGTGTGCATGTGGGTGTGTGTGTACCCATGCTCATCTGTGTGTGT ACCTGCATGTGTGTGCGTGTGTGTGTGCCTGCATGTACCCGTGCTCATCT GTGTGTGTGCATGTGGGTGTGTGTGTACCTGCATGTGTGTGCATGTGGGT GTGTGTGTACCCGTGCTCATCTGTGTGTGTACCTGCATGTGTGTGCATGT GGGTGTGTGCCTGCATGTACCCGTGCTCATCTGTGTGTGTGCATGTGTAC CTGCATGTGTGTGCATGTGGGTGTGTGTGTACCTGCATGTGTGTGCATGT GGGTGTGCGTGTACCTGCATGTGTGTGCATGTGGGTGTGCGTGTGTGTAC CCGTGCTCATCTGTGTGTGTGCATGTGGGTGTGTGTGTGTGTACCTGCAT GTGTGTGCATGTGGGTGTGGGTGTGTACCTGCATTGTGTGCATGTGGGTG TGCGTGTGTGTACCTGCATGTGGGTGTGCGTGTGTGTACCCGTGCTCATC TGTGTGTGTGCATGTGTGTGTGTACCCGTGCTCATCTGTGTGCATGTGGG TGTGTGTGTGTGTACCCGTGCTCCTCTGTGTGCATGTGGGTGTGTGTGTG TACCCA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02818.hp2 HG03540.hp2 others(3): Show HG01192.hp1 HG02818.hp2 HG03540.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0001c0006 a0001c0028 others(3): Show a0001c0004 a0001c0006 a0001c0028 a0001c0037 a0003c0003 a0004c0071	a0001c0004t0010 a0001c0006t0001 a0001c0028t0001 others(3): Show a0001c0004t0010 a0001c0006t0001 a0001c0028t0001 a0001c0037t0002 a0003c0003t0004 a0004c0071t0003	a0001c0004t0010g0052 a0001c0006t0001g0041 a0001c0028t0001g0123 others(3): Show a0001c0004t0010g0052 a0001c0006t0001g0041 a0001c0028t0001g0123 a0001c0037t0002g0117 a0003c0003t0004g0066 a0004c0071t0003g0114	6	134	0.0448	-1105	c.304 others(19): Show c.3044+3474_3044+4578del		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	29/51					INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(1098): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	273	0.0037	-1105	c.20 others(11): Show c.2059_*3163del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2955		chr16	TogoVar
LUC7L_chr16_183990_234449	186162	GACACGGG others(1098): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAATACCAACACGGGAGGA ACAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG03139.hp1 others(4): Show HG02486.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 others(4): Show a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187	7	348	0.0201	-1105	c.19 others(11): Show c.1931_*3035del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2827		chr16	TogoVar

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