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
ADARB2_chr10_1172313_1742525	1540484	GTAGTTCA others(677): Show GTAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGTAGTT CAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGATGTAGTTCAGACC CTGGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAG CCGTCCAGACCCCACTCAGACGCAGTTTGGACCCTGGATCACAGCCGTCC AGACCCCACTCAGACGCAGTTCGGACTCTGGATCCGTCCAGATCCCACTC AGACGTAGTTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGT AGTTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGTAGTTCA GACCCTGGATCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATC ACAGCCGTCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCCA GACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCC ACTCAGACTCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAG ACGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGATGTAG TTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGA CCCTGGATCACAGCCGTCCAGACCCCACTCACACT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG02886.hp1 others(2): Show HG01081.hp1 HG02257.hp2 HG02886.hp1 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0002c0014	a0001c0001t0029 a0001c0001t0052 a0001c0007t0066 others(2): Show a0001c0001t0029 a0001c0001t0052 a0001c0007t0066 a0002c0002t0005 a0002c0014t0008	a0001c0001t0029g0031 a0001c0001t0052g0062 a0001c0007t0066g0105 others(2): Show a0001c0001t0029g0031 a0001c0001t0052g0062 a0001c0007t0066g0105 a0002c0002t0005g0033 a0002c0014t0008g0060	5	95	0.0526	-684	c.101 others(21): Show c.101-162008_101-161325del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1540485	TAGTTCAG others(677): Show TAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGTAGTTC AGACCCTGGATCACAGCCGTCCAGACCCCACTCAGATGTAGTTCAGACCC TGGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGC CGTCCAGACCCCACTCAGACGCAGTTTGGACCCTGGATCACAGCCGTCCA GACCCCACTCAGACGCAGTTCGGACTCTGGATCCGTCCAGATCCCACTCA GACGTAGTTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGTA GTTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGTAGTTCAG ACCCTGGATCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCA CAGCCGTCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCCAG ACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCA CTCAGACTCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGA CGCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGATGTAGT TCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGAC CCTGGATCACAGCCGTCCAGACCCCACTCACACTC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp1 HG02615.hp1 others(7): Show HG00408.hp2 HG01884.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02735.hp1 HG02970.hp1 HG03540.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0013	a0001c0001t0009 a0001c0001t0023 a0001c0001t0059 others(7): Show a0001c0001t0009 a0001c0001t0023 a0001c0001t0059 a0001c0003t0001 a0001c0003t0045 a0002c0002t0007 a0002c0002t0038 a0002c0002t0046 a0002c0002t0053 a0007c0013t0020	a0001c0001t0009g0055 a0001c0001t0023g0023 a0001c0001t0059g0092 others(7): Show a0001c0001t0009g0055 a0001c0001t0023g0023 a0001c0001t0059g0092 a0001c0003t0001g0052 a0001c0003t0045g0057 a0002c0002t0007g0001 a0002c0002t0038g0048 a0002c0002t0046g0056 a0002c0002t0053g0106 a0007c0013t0020g0037	10	47	0.2128	-684	c.101 others(710): Show c.101-162009_101-161325delGAGTGTGAGTGGGGTCTGGACGGC TGTGATCCAGGGTCTGAACTGCGTCTGAGTGGGGTCTGGACGGCTGTGAT CCAGGGTCTGAACTACATCTGAGTGGGGTCTGGGCGGCTGTGATCCAGGG TCTGAACTGCGTCTGAGTGGGGTCTGGACGGCTGTGATCCAGGGTCTGAA CTGAGTCTGAGTGGAGTCTGGACGGCTGTGATCCAGGGTCTGAACTGCGT CTGAGTGGGGTCTGGACGGATCCAGGGTCTGAACTACATCTGAGTGGGGT CTGGACGGCTGTGATCCAGGGTCTGAACTACGTCTGAGTGGGGTCTGGAC GGATCCAGGGTCTGAACTACATCTGAGTGGGGTCTGGATGGCTGTGATCC AGGGTCTGAACTACATCTGAGTGGGGTCTGGATGGCTGTGATCCAGGGTC TGAACTACGTCTGAGTGGGATCTGGACGGATCCAGAGTCCGAACTGCGTC TGAGTGGGGTCTGGACGGCTGTGATCCAGGGTCCAAACTGCGTCTGAGTG GGGTCTGGACGGCTGTGATCCAGGGTCCGAACTGCGTCTGAGTGGGGTCT GGACGGATCCAGGGTCTGAACTACATCTGAGTGGGGTCTGGACGGCTGTG ATCCAGGGTCTGAACTACGTCTGAGTGGGGTCTGGGCGGCTGTGATCCAG GGTCTGAACTAinsT		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
CBLC_chr19_44772890_44805652	44800965	TCCAGCCC others(677): Show TCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTC CCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTTCCTCAGACCCAGGA ATCCATACTGCAGCCCCTTCTCCCTCAGACCCAGGAGTCCAGGCCCCAGC CCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCATACTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAT ACTGCAGCCCCTTCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTCCCTCAGACCCAG GAGTCCATACTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCA GCCCCTCCTTCCTCAGACCCAGGAGTCCATACTGCAGCCCCTTCTCCCTC AGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC ATACTGCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTTCTCCCTCAGACCC AGGAGTCCATACTGCAGCCCCTCCTTCCTCAGACCCAGGAGTCCATACTG CAGCCCCTTCTCCCTCAGACCCAGGAGTCCAGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01433.hp2 HG03130.hp2 others(2): Show HG00735.hp2 HG01433.hp2 HG03130.hp2 HG03239.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0005c0005 a0001c0006 a0005c0005	a0001c0006t0001 a0005c0005t0001 a0001c0006t0001 a0005c0005t0001	a0001c0006t0001g0053 a0001c0006t0001g0054 a0005c0005t0001g0055 others(2): Show a0001c0006t0001g0053 a0001c0006t0001g0054 a0005c0005t0001g0055 a0005c0005t0001g0117 a0005c0005t0001g0120	5	314	0.0159	-684	c.42 others(10): Show c.423_*1106del		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding					314		chr19	TogoVar
CFD_chr19_854664_868641	856890	GTGGTGGT others(677): Show GTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAAGCCTGAGGCAGGA GAATCACCTGAATTCTGGAAGGTGGAGGTTGCAGTGAGCCAAGATCGCTC CATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAATAA ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATATAAATAA TAATGATAATAATAATAATAAACAACAAACTAGAATCCAGAGTCTCTTGG GCATCTCTGGAGTAAGCCACCACCAGGGGGCAGCACAGCCAGGGCAATGG AGCAGAAGTGACTTCCCCACATTGTGTTTTTTTCTTTTTTGTTTTTAGAT GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTCATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGAACTCGTGATCCGCCCGCCTTGACCTCCCAAAGTGCTGGGATT ACAGGCGTAGCCACCACGCCCAGCCCTGTTGTTATATCATTTTCTATTCT CTGTGCGTATGAAATAATCCACAGGGGGCCAGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG03486.hp2 HG02896.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0054 a0001c0001t0015g0036 a0001c0001t0001g0054 a0001c0001t0015g0036	2	286	0.0070	-684	c.-27 others(11): Show c.-2799_-2116del		CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding					2773		chr19	TogoVar
EHMT1_chr9_137614005_137841127	137818931	CTGAGGGG others(677): Show CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCG CCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAG ACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGG CCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGG CGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCG AGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGA GGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGG GGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGA GAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA GGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	158	0.0063	-684	c.354 others(18): Show c.3540+817_3540+1500del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
ELANE_chr19_847303_861243	856890	GTGGTGGT others(677): Show GTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAAGCCTGAGGCAGGA GAATCACCTGAATTCTGGAAGGTGGAGGTTGCAGTGAGCCAAGATCGCTC CATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAATAA ATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATATAAATAA TAATGATAATAATAATAATAAACAACAAACTAGAATCCAGAGTCTCTTGG GCATCTCTGGAGTAAGCCACCACCAGGGGGCAGCACAGCCAGGGCAATGG AGCAGAAGTGACTTCCCCACATTGTGTTTTTTTCTTTTTTGTTTTTAGAT GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTCATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGAACTCGTGATCCGCCCGCCTTGACCTCCCAAAGTGCTGGGATT ACAGGCGTAGCCACCACGCCCAGCCCTGTTGTTATATCATTTTCTATTCT CTGTGCGTATGAAATAATCCACAGGGGGCCAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG03486.hp1 HG02896.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	402	0.0050	-684	c.72 others(10): Show c.727_*1410del		ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding					648		chr19	TogoVar
FOXQ1_chr6_1307098_1319758	1319074	GCACGCCT others(677): Show GCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCT GAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCAC TACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAA GACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAA TTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAAC ATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGCGGT GGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCA CCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGT CACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTT CAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACA AAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01884.hp1 HG01891.hp1 others(13): Show HG00621.hp1 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02895.hp1 HG02922.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG04199.hp1 NA18947.hp2 NA19088.hp2	a0004 a0004	a0004c0006 a0004c0012 a0004c0006 a0004c0012	a0004c0006t0001 a0004c0006t0018 a0004c0012t0001 a0004c0006t0001 a0004c0006t0018 a0004c0012t0001	a0004c0006t0001g0000 a0004c0006t0018g0000 a0004c0012t0001g0000 a0004c0006t0001g0000 a0004c0006t0018g0000 a0004c0012t0001g0000	16	382	0.0419	-684	c.51 others(11): Show c.5159_*5842del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4317		chr6	TogoVar
FZR1_chr19_3501311_3543334	3529702	GGATGGGA others(677): Show GGATGGGAGAGCGGATGGGAGAGTGGATGGGAGAGTGGATGGGTGAGCGC ATGGGAGCGCATGGGTGAGCGGATGCGAGAGTGGATGAGAGTGGTTGAGG GAGTGGATGGTTGAGTGGATGGGTGAGCGGATGGGTGAGCGGGTGGGTGA GCGGGTGGGTGAGCGGGTGGGTGAGCGGGTGGGAGAGCGGATGGGAGAGT GGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAG ATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGTGGATGG GAGAGCAGATGGGTGAGTGGATGGGAGAGTGGATGGGTGAGCGGATGGGA GAGCAGATGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGT GGTTGAGGGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAG ATGCAAGAGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGG GAGAGCAGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGT GAGCGGATGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGA GCGGAGGAGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAG AAGGGAGAGCGGATGGGAGAGCGGATGGGTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG02258.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0037 a0001c0001t0007 a0001c0001t0037	a0001c0001t0007g0049 a0001c0001t0037g0061 a0001c0001t0007g0049 a0001c0001t0037g0061	2	312	0.0064	-684	c.655 others(16): Show c.655-1083_655-400del		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
FZR1_chr19_3501311_3543334	3529709	AGAGCGGA others(677): Show AGAGCGGATGGGAGAGTGGATGGGAGAGTGGATGGGTGAGCGCATGGGAG CGCATGGGTGAGCGGATGCGAGAGTGGATGAGAGTGGTTGAGGGAGTGGA TGGTTGAGTGGATGGGTGAGCGGATGGGTGAGCGGGTGGGTGAGCGGGTG GGTGAGCGGGTGGGTGAGCGGGTGGGAGAGCGGATGGGAGAGTGGTTGAG GGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAG AGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGTGGATGGGAGAGCA GATGGGTGAGTGGATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGA TGGGTGAGCGGATGGGAGAGCGGATGGGAGAGTGGATGAGAGTGGTTGAG GGAGCGGATGGGTGAGCGGATGGGAGAGCGCATGGGTGAGCAGATGCAAG AGTGGATGAGAGTGGTTGAGGGAGTGGATGGTTGAGCGGATGGGAGAGCA GATGGGAGAGTGGATGGGTGAGCGGATGGGAGAGCAGATGGGTGAGCGGA TGGGAGAGCGGATGGGAGAGCGGATGGGAGAGCGCAGGGGAGAGCGGAGG AGAGAGCGGAGGAGAGTGGTTGAGGGAGTGGATGGTTGAGCAGAAGGGAG AGCGGATGGGAGAGCGGATGGGTGAGCAGATGGGT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01346.hp2 HG04184.hp2 HG01261.hp1 HG01346.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0052 a0001c0001t0007 a0001c0001t0052	a0001c0001t0007g0057 a0001c0001t0007g0059 a0001c0001t0052g0058 a0001c0001t0007g0057 a0001c0001t0007g0059 a0001c0001t0052g0058	3	312	0.0096	-684	c.655 others(16): Show c.655-1067_655-384del		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
GRTP1_chr13_113319163_113369130	113346200	AGACCCGG others(677): Show AGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGT GGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGG ACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGG ACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGG CTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGAC CTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGAC CCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCA AAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGAC CTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGAC CTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGA GAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCT CTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCC GGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAA GAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03669.hp1 HG02280.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0222 a0001c0001t0003g0266 a0001c0001t0001g0222 a0001c0001t0003g0266	2	215	0.0093	-684	c.466 others(17): Show c.466-1925_466-1242del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346235	CGGGAGGA others(677): Show CGGGAGGACCTCTGTGGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTG AGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTC TGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTG GGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAA CAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTG TGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGG AGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAA CAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTG TGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAG GACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCG GACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTG GCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAG GACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTG GACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 NA18945.hp1 HG00639.hp1 HG01074.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0204 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0204	3	262	0.0115	-684	c.466 others(17): Show c.466-1960_466-1277del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
NXN_chr17_794310_984776	941974	CCCTGGAT others(677): Show CCCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACAT CACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAA TTCACCAAACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAATTCACCAAACACCTTCCTGGATTTACAGCGAACAAGATTCCAG GGCGCAGCCATGAATTCACCACACACCTCCCTGGATTTACAGTGAACAAG ATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGT GAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGAT TTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTT CCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAC ACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAAT TCACCAAACACCTCCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGC CATGAACTCACATCACACCTTCCTGGATTTACGGTGAACAAGATTCCAGG GTGCAGCCATGAATTCACCAAACACCTTCCTGGATTTCCAGTGAACAAGA TTCCAGGGTGCAGCCATGAACTCACATCACACCTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	227	0.0044	-684	c.360 others(19): Show c.360+36661_360+37344del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
PCGF3_chr4_700832_775089	745555	CGGGGGTC others(677): Show CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGT GTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0075 a0002c0002t0016g0075	1	358	0.0028	-684	c.462 others(16): Show c.462+872_462+1555del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745666	GCCCGGGG others(677): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0111 a0001c0001t0031g0111	1	352	0.0028	-684	c.462 others(17): Show c.462+1007_462+1690del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747001	TTCGCCGT others(677): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp2 HG02040.hp1 others(2): Show HG00733.hp2 HG01168.hp2 HG02040.hp1 HG03688.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0013 a0001c0001t0058 others(2): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0058 a0002c0002t0003 a0002c0002t0045	a0001c0001t0003g0051 a0001c0001t0013g0048 a0001c0001t0058g0052 others(2): Show a0001c0001t0003g0051 a0001c0001t0013g0048 a0001c0001t0058g0052 a0002c0002t0003g0070 a0002c0002t0045g0009	5	222	0.0225	-684	c.462 others(17): Show c.462+2348_462+3031del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
RPTOR_chr17_80539838_80971368	80743821	CCCTGGCT others(677): Show CCCTGGCTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTAC TAGCAGAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC GAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA18906.hp2 others(1): Show HG02109.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0067 a0001c0075 a0001c0005 a0001c0067 a0001c0075	a0001c0005t0026 a0001c0005t0067 a0001c0067t0068 others(1): Show a0001c0005t0026 a0001c0005t0067 a0001c0067t0068 a0001c0075t0012	a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110 others(1): Show a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110 a0001c0075t0012g0127	4	175	0.0229	-684	c.655 others(18): Show c.655-10183_655-9500del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
UBC_chr12_124906646_124919650	124911750	AGTGGACT others(677): Show AGTGGACTCTTTCTGGATGTTGTAGTCAGACAGGGTGCGTCCATCTTCCA GCTGTTTCCCAGCAAAGATCAACCTCTGCTGATCAGGAGGGATGCCTTCC TTATCTTGGATCTTTGCCTTGACATTCTCGATGGTGTCACTGGGCTCCAC CTCGAGGGTGATGGTCTTACCAGTCAGGGTCTTCACGAAGATTTGCATCC CACCTCTGAGACGGAGCACCAGGTGCAGGGTGGACTCTTTCTGGATGTTG TAGTCAGACAGGGTGCGTCCATCTTCCAGCTGTTTCCCAGCAAAGATCAA CCTCTGCTGGTCAGGAGGGATGCCTTCCTTGTCTTGGATCTTTGCCTTGA CATTCTCAATGGTGTCACTCGGCTCCACTTCGAGAGTGATGGTCTTACCA GTCAGGGTCTTCACGAAGATCTGCATCCCACCTCTAAGACGGAGCACCAG GTGCAGGGTGGACTCTTTCTGGATGTTGTAGTCAGACAGGGTGCGTCCAT CTTCCAGCTGTTTCCCAGCAAAGATCAACCTCTGCTGGTCAGGAGGGATG CCTTCCTTGTCTTGGATCTTTGCCTTGACATTCTCAATGGTGTCACTCGG CTCCACTTCGAGAGTGATGGTCTTACCAGTCAGGGTCTTCACGAAGATCT GCATCCCACCTCTAAGACGGAGCACCAGGTGCAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0030 a0004c0007t0003g0030	1	444	0.0023	-684	c.133 others(9): Show c.1338_2021del	p.Leu others(13): Show p.Leu447_Thr674del	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding	2/2	2088/2193	1338/2058	446/685			chr12	TogoVar
UBOX5_chr20_3102573_3164865	3124539	CGCCACCC others(677): Show CGCCACCCCATCTAGGAAGTGAGGAGCCTCTCTGCCTGGCCACCCATTGT CTGGGATGTGAGGAGAGCCTCTGCCCAGCTGCCCCATCTGGGATGTGAGG AGCACCTCTGCCCGGCCGCCCTGTCTGGGAGGTGAGGAGTGCCTCTGCCC GGCCGCCACCCTGTCTGGGATGTGAGGAGCGTCTCTGCCCGGCCGCCCTG TCTGGGAGGTGAGGAGCGCCTCTGCCCAGCCGCCACCCCGTCTGGGATGT GAGGAGCGTCTCTGCCTGGCTGCCCCATCTAGGAAGTGAGGAGCGCCTCT GCCTGGCTGCCCCTTCTGAGAAGTGAGGAGCGCCTCTGCCCAGCCGCCCC GTCTGGGAGGTGAGGAGTGCCTCTGCCTGGCCACCCATCATCTGGGAAGC GAGGAGCGCTGCTGCCCGGCCACCCCGTCTGGGAACTGAGGAGCGCCTCT GCCCGGCCGCCCCGTCTGAGAAGTGAGGAGCACCTCTGCCTGGCAGCCAC CCCATCTGGTAAGTGAGGAGCATCTCTGCCTGGCCGCCCCATCTGGGAAG TGGGGAGTGCCTCTGCCCGGCCGCCCCGTCTGGAGGTGAGGAGCGCCTCT GCCTGGCAGCCACCCCATCTGGGAAGTGAGGAGCGCCACTGCCCGGCTGC ACCATCTGAGAAGTGAGGAGTGCCTCTGCCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0183 a0001c0001t0037g0183	1	382	0.0026	-684	c.-41 others(17): Show c.-41-1817_-41-1134del		UBOX5	ENSG00000185019.17	transcript	ENST00000217173.7	protein_coding	1/4						chr20	TogoVar
ADARB2_chr10_1172313_1742525	1540486	AGTTCAGA others(676): Show AGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGACGTAGTTCA GACCCTGGATCACAGCCGTCCAGACCCCACTCAGATGTAGTTCAGACCCT GGATCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCC GTCCAGACCCCACTCAGACGCAGTTTGGACCCTGGATCACAGCCGTCCAG ACCCCACTCAGACGCAGTTCGGACTCTGGATCCGTCCAGATCCCACTCAG ACGTAGTTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGTAG TTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGTAGTTCAGA CCCTGGATCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCAC AGCCGTCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCCAGA CCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCAC TCAGACTCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGAC GCAGTTCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGATGTAGTT CAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACC CTGGATCACAGCCGTCCAGACCCCACTCACACTC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp1 HG02970.hp2 others(1): Show HG00639.hp1 HG02109.hp1 HG02970.hp2 HG04184.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0018 a0001c0001t0022 a0002c0002t0002 others(1): Show a0001c0001t0018 a0001c0001t0022 a0002c0002t0002 a0005c0010t0006	a0001c0001t0018g0027 a0001c0001t0022g0015 a0002c0002t0002g0075 others(1): Show a0001c0001t0018g0027 a0001c0001t0022g0015 a0002c0002t0002g0075 a0005c0010t0006g0014	4	105	0.0381	-683	c.101 others(21): Show c.101-162009_101-161327del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ASB5_chr4_176208673_176274222	176218529	TATAAATA others(676): Show TATAAATATATATATTTGTATGATATATATATTTGTATGATATATAAATA TATATATTTGTATGATATATAAATATATATGTATGATATATAAATATATA TTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATATA TATTTGTATGATATATAAATATATATATATTTGTATGATATATACATTTG TATGATATATAAATATATATATTTGTATGATATATAAATATATATATTTG TATGATATATAAATATATATATTTGTATGATATATAAATATATATGTATG ATATATAAATATATATTTGTATGATATATAAATATATATATTTGTATGAT ATATAAATATATATATTTGTATGATATATAAATATATATATTTGTATGAT ATATAAATATATATGTATGATATATAAATATATATTTGTATGATATATAA ATATATATATTTGTATGATATATAAATATATATGTATGATATATAAATAT ATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATAT ATATATTTGTATGATATATAAATATATATATATATTTGTATGATATATAT ATTTGTATGATATATAAATATATATTTGTATGACATATAAATATATATTT GTATGACATATAAATATATATATTTGTATGACAG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	400	0.0025	-683	c.670 others(17): Show c.670+1943_671-1521del		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
MBTPS1_chr16_84048763_84121942	84051407	GAGCGGCA others(676): Show GAGCGGCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTG CGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCG CATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCTGC AAGGCCGCATGTGAGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAG AGCTGCAAGGCCCACATGTGGGTAAGGAGAGTGGCAAGGCCCGCATGTGG GTAAGGAGAGCTACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCG CATGTGGGTAAGGAGAGCTGCAAGGCCCCATGTGGGTAAGGAGAGCTGCA AGGCCGTATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGA GCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGCG TAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCA TGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGCGTAAGGAGAGCGGCAA GGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGA GCGGCAAGGCCCCCATGTGCGTAAGGAGAGCTGCAAGGCCGCATGTGGGT AAGGAGAGCTGCAAGGCCCCATGTGGGTAAGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03486.hp1 NA18522.hp1 HG02970.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0011 a0001c0001t0022	a0001c0001t0011g0243 a0001c0001t0022g0244 a0001c0001t0022g0245 a0001c0001t0011g0243 a0001c0001t0022g0244 a0001c0001t0022g0245	3	420	0.0071	-683	c.23 others(11): Show c.2359_*3041del		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					2355		chr16	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(676): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0009 a0002c0002t0045g0009	1	310	0.0032	-683	c.462 others(14): Show c.462+36_462+718del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744816	GGGGGTCG others(676): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCG CTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03688.hp2 NA18993.hp2 others(1): Show HG01358.hp2 HG03688.hp2 NA18993.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0010 a0001c0001t0002 a0001c0001t0003 a0001c0003t0010	a0001c0001t0002g0173 a0001c0001t0003g0046 a0001c0001t0003g0051 others(1): Show a0001c0001t0002g0173 a0001c0001t0003g0046 a0001c0001t0003g0051 a0001c0003t0010g0130	4	309	0.0129	-683	c.462 others(15): Show c.462+150_462+832del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746866	GGGGGTCG others(676): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0309 a0001c0003t0010g0309	1	358	0.0028	-683	c.462 others(17): Show c.462+2292_462+2974del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746980	GGGGTCGC others(676): Show GGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0280 a0001c0001t0034g0280	1	363	0.0028	-683	c.462 others(17): Show c.462+2296_462+2978del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PPP1R1C_chr2_181980853_182122756	181992187	GCTTTTCA others(676): Show GCTTTTCAACTCCAGCTCTGATAATTTCAGATGTTAGAAAATGATTTCTT ATACCAAACTTAAATATAAATTCCCCACTTTATTCTAAAATAACTTCATT TGTTCTCTGCAATAAAAAGTCATTTTCTCACCTTTTAAAAAATATGAATG AATGATTATTTTCTTTTATTCTCAATCTCCCTAAGGGCTTTAATAAACTC TATCCGAATTCTCCCTATTGCTCTGCCTTTGAAGCCCAGAGCTGGACACA GTCTTCCAGTAAAAAGCCAGCCTAGACCAGGTCTTCTGAATATTAAAGTT TGTGGCATCCATTGTTTTCCATTTACCGTTAAGCAGAGACAATATGGTTA CAGTTATATTTAATGGACCTGACGCCTACTAAACATGAGTGAGCTGTATG AGGCCTGGAGATAAGTGCAGATTTGGGTAAGTACCCAGGAGTTTTGACGT CATTTAAAAGCTCACTGTACATCTAAAAAGTGGAATCCGAAGCATAAGGT AAAATAGTTTTTTGAGTATATTTATTGAACTTCCTATCACAGCCAAATTT TGGGGAAATCGACTTTATCTTTGACCCTTTTAGTGTCAAATATCCTTTGA AATCAAGAATAAAAACAAAGGTTGTTCTCACATGCCTCAGGTTCCCAAAA GTTAGTTAATAGGAGACATAAGAGATATATGATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG00738.hp1 others(66): Show HG00597.hp2 HG00639.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01433.hp2 HG01891.hp1 HG02040.hp2 HG02071.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG04204.hp2 HG06807.hp1 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18957.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18974.hp1 NA18980.hp1 NA18992.hp1 NA19000.hp2 NA19001.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19063.hp1 NA19072.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009	a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0133 others(63): Show a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0202 a0001c0001t0004g0074 a0001c0001t0004g0125 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0010g0153 a0001c0002t0001g0108 a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0004 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0003g0148 a0001c0002t0003g0150 a0001c0002t0003g0151 a0001c0002t0003g0231 a0001c0002t0003g0329 a0001c0002t0006g0128 a0001c0002t0009g0078	69	342	0.2018	-683	c.142 others(17): Show c.142+4291_142+4973del		PPP1R1C	ENSG00000150722.11	transcript	ENST00000682840.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
AHRR_chr5_316714_443285	358260	AGGAAGAG others(675): Show AGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCC CTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCG GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCGTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCAAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0035 a0007c0007t0035	a0007c0007t0035g0228 a0007c0007t0035g0228	1	254	0.0039	-682	c.244 others(17): Show c.244+4425_244+5106del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
DLGAP2_chr8_732628_1713476	1405072	AGAGTCGT others(675): Show AGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCTCCCTCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTACT GAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGC GCCACCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCGTCCTCCAGAGTCGTACTAACTGAGCGCTCCCACCTTGTCCTCCAGA GTCGCGTAACTCAGCGCTTACTGAGCGCCACCTCCTTGCCCTCCAGAGTC GTGTATTGAGTGCGCACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTGT ATTGAGTGCTTACTGAGTGCCACCTCCTCGTCCTCCAGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTCATCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	36	0.0278	-682	c.107 others(19): Show c.107-96218_107-95537del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERC1_chr12_986223_1500931	1121947	ATCTCTAT others(675): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTAT CTATCTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01993.hp1 HG01109.hp2 HG01993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0060 a0002c0002t0012 a0001c0001t0060 a0002c0002t0012	a0001c0001t0060g0130 a0002c0002t0012g0115 a0001c0001t0060g0130 a0002c0002t0012g0115	2	153	0.0131	-682	c.156 others(19): Show c.1569+5916_1569+6597del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM220A_chr7_6324411_6353967	6337368	CGCCTCAG others(675): Show CGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCC GCCCAGTATTTTAATTCTCAAGAAAAACAGGTCATATAATATGGGACAGT GCTCAGAAAAATTAAGTTTCTAACCATTTTTAGTAAGTCCTTGTACAAGG ATTTAGCATTGTTCAGAAAGGTGAAACATTTCTAGAATTGTGTTAAAGTA CTTTAAATACAGTACCATTATTTTTTTTCATTTCCTTAGCAAACTAACGC AGTATAAGGTACCATTAGTAATCACTTATTTTATAACTCAGAAACATAAA AAAATTCATTTAATAAGGTAAACATGTATTCAATCATGATAGAATAAATT GTCCCCTGAAGTTCTTCTAGTACTTTAGTATTCAGTAATAAACTATTTAA TTCTCTCATCAAAAAGATTTCAATACATTATTTATTTATTTATTTATTTA TTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCA ATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGC CTCACCCTCCCAAGTAGCTGGTACTACAGGCACCAGCTGCCACGCCCAGC TAATTTTTGTATTTTCAGTAGAGACATGGTTTCACCATGTTGGCCAGGCT GCTCTCGAACTCCTGACCTCAGGTGATCCACCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG02572.hp2 others(5): Show HG01496.hp1 HG01515.hp1 HG02572.hp2 HG02647.hp1 HG02895.hp2 HG03098.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0009c0012	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0005t0001 a0009c0012t0010	a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0002t0001g0357 others(5): Show a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0002t0001g0357 a0001c0002t0001g0358 a0002c0003t0001g0359 a0003c0005t0001g0356 a0003c0005t0001g0369 a0009c0012t0010g0022	8	418	0.0191	-682	c.-81 others(17): Show c.-81-6815_-81-6134del		FAM220A	ENSG00000178397.13	transcript	ENST00000313324.9	protein_coding	1/1						chr7	TogoVar
GRTP1_chr13_113319163_113369130	113346283	TGAGCGGA others(675): Show TGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACC TCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACC TGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAG AACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTC TGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCG GGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCGAG AACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGG AGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGAG CGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGG AGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAG TGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCTGAGCGGATCTGGGAGGACCTCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	206	0.0049	-682	c.466 others(17): Show c.466-2006_466-1325del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346381	CCTGGGAG others(675): Show CCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCG AGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACC TCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACC CGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGGCCG AGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTG GGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCG GGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGAC AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAG CGGACCTGGGAGGACCTCTGTGGCTGAGCGGAT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	275	0.0036	-682	c.466 others(17): Show c.466-2104_466-1423del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
OR4S1_chr11_48301223_48312152	48305936	TTATTATA others(675): Show TTATTATATATAATATAAATTATATATTATATATATAATATATATTATAA TATATATTATATATTATATATATATAATATATATTATTATATATAATATA TAATTTATATATATATATAATAATATATTATATATATTATATATGTATTT TTTGTGATGGGGATGAAGGCTAGTATCTTTCTTACTCCATAATCTTGGTG GTATCTCAGAAAACTTTCTTATGTCTCATAATTTATGTCTTTGCAGAGCC AGCCAGCCACTTTGTCGGTCATCAGGGCAGATAATCCATGGGTGCCAAGA ACAATGTGACTGAGTTTGTTTTATTTGGCCTTTTTGAGAGCAGAGAGATG CAGCATACATGCTTTGTGGTATTCTTCCTCTTTCATGTGCTCACTGTCCT GGGGAACCTTCTGGTCATCATCACCATCAATGCTAGAAAGACCCTGAAGT CTCCCATGTATTTCTTCCTGAGCCAGTTGTCTTTTGCTGACATATGTTAT CCATCCACTACCATACCCAAGATGATTGCTGACACTTTTGTGGAGCATAA GATCATCTCCTTCAATGGCTGCATGACCCAGCTCTTTTCTGCCCACTTCT TTGGTGGCACTGAGATCTTCCTCCTTACAGCCATGGCCTATGACCGCTAT GTGGCCATCTGTAGGCCCCTGCACTACACAGCC	T T	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	HG01346.hp2 HG02735.hp2 NA20129.hp2 HG01346.hp2 HG02735.hp2 NA20129.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	3	364	0.0082	-682	c.-28 others(8): Show c.-286_396del	p.Met others(11): Show p.Met1_Ala132del	OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding	1/1		1/930	1/309			chr11	TogoVar
PCGF3_chr4_700832_775089	745553	CCCGGGGG others(675): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0050 a0001c0001t0050g0050	1	361	0.0028	-682	c.462 others(16): Show c.462+868_462+1549del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745841	GGGGGTCG others(675): Show GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGC TGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 NA19030.hp2 HG01257.hp1 HG01258.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0009g0245 a0002c0002t0001g0231 a0002c0002t0001g0232 a0001c0001t0009g0245 a0002c0002t0001g0231 a0002c0002t0001g0232	3	338	0.0089	-682	c.462 others(17): Show c.462+1178_462+1859del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745866	TCCGTGGA others(675): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0343 a0001c0001t0011g0343	1	280	0.0036	-682	c.462 others(17): Show c.462+1267_462+1948del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
RIPK1_chr6_3063494_3120187	3092590	CGCGCCTA others(675): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCA GAGCGCCTACCTGCCGCACCTAGGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18946.hp2 HG00558.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0002 a0001c0001t0026 a0001c0002t0002	a0001c0001t0026g0251 a0001c0002t0002g0020 a0001c0001t0026g0251 a0001c0002t0002g0020	2	275	0.0073	-682	c.915 others(17): Show c.915+2955_915+3636del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092736	TAACCGCA others(675): Show TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	296	0.0034	-682	c.915 others(17): Show c.915+3150_915+3831del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092900	CGCGCCTA others(675): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTAC CTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCA GAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	326	0.0031	-682	c.915 others(17): Show c.915+3553_915+4234del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SAGSIN1_chr7_6324411_6353967	6337368	CGCCTCAG others(675): Show CGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCC GCCCAGTATTTTAATTCTCAAGAAAAACAGGTCATATAATATGGGACAGT GCTCAGAAAAATTAAGTTTCTAACCATTTTTAGTAAGTCCTTGTACAAGG ATTTAGCATTGTTCAGAAAGGTGAAACATTTCTAGAATTGTGTTAAAGTA CTTTAAATACAGTACCATTATTTTTTTTCATTTCCTTAGCAAACTAACGC AGTATAAGGTACCATTAGTAATCACTTATTTTATAACTCAGAAACATAAA AAAATTCATTTAATAAGGTAAACATGTATTCAATCATGATAGAATAAATT GTCCCCTGAAGTTCTTCTAGTACTTTAGTATTCAGTAATAAACTATTTAA TTCTCTCATCAAAAAGATTTCAATACATTATTTATTTATTTATTTATTTA TTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCA ATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGC CTCACCCTCCCAAGTAGCTGGTACTACAGGCACCAGCTGCCACGCCCAGC TAATTTTTGTATTTTCAGTAGAGACATGGTTTCACCATGTTGGCCAGGCT GCTCTCGAACTCCTGACCTCAGGTGATCCACCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG02572.hp2 others(5): Show HG01496.hp1 HG01515.hp1 HG02572.hp2 HG02647.hp1 HG02895.hp2 HG03098.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0021	a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0002g0357 others(5): Show a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0005g0359 a0001c0001t0006g0356 a0001c0001t0006g0369 a0001c0001t0021g0022	8	418	0.0191	-682	c.187 others(17): Show c.187-6815_187-6134del		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1						chr7	TogoVar
VPS53_chr17_503668_719839	506392	TCTAGAAG others(675): Show TCTAGAAGAGCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGA GATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCCTCAAGAGCGGGGT CAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTGGTGAC CTTCAAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAG AAGAGCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAGATGG AAGCTGACTTTGTAGAAGAGCATTGGTGACCTTCGAGATCAGGGTCAGGA CAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCG AGAGCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAG CATTGGTGACCTTCGAGAGCAGGGTCAGGACGGTGGTTGAGATGGAAGCT GACTTTCTAGAAGAGCATTGGTGACCTTCGAAAGCAGGGTCAGGACAGCG GTTGAGATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCTTTGAGAGC GGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAGAGCATTG GTGACCTTCGAGAGCAGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTT TCTAGAAGAGCACCGGTGACCCTCAAGAGCGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0065 a0001c0007t0065	a0001c0007t0065g0104 a0001c0007t0065g0104	1	230	0.0043	-682	c.12 others(13): Show c.12054_*12735del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding					2275		chr17	TogoVar
CNTN5_chr11_99015949_100363885	99314729	AGGAAAGG others(674): Show AGGAAAGGAAGAGAGGGGAGGAGAAAGAAGAAGAGGATGGGGAGGAGGTG CACATGTGTAATTAAAATATCCATAACACTTTAAGATGGATGCTCTAGTA GGATGTGAAAAAGATATAGTGGGAAGATAAAGAAGAAAGTAGCTTCAGAG AAGAGAATATTTGTTGTATATAATAAACAGTGGGATATTGTAAAAATTGC ATATTCTTATTCAGTAGCTCTGTGGGTGGGGGGACGGGGTGTTGACATTC TGTGTTTTTAACTAACAAGCTCCTAGGTAATGCTGATGTTGCTGTTCTTC AGACCAAACTTTAAGTAGCAATTAAAGTAATTAAGTAATTAAGTAATTAA GGGTAGAGAAGACATTGATATTTATTCTAGGCAGAGTGATGAATACCCTC TAGTAGTCATGGAAGAATAAAAGCATTTGGTCTGGCTAGTAGTTCACTGA GCATAAATAGTTCACTGAGCATAAGTAGTTCACTGAACTATCAGATAATG ATTTAGAAAAAAAAAGTATTACAAATGACCTCAGGCTAAACATTCTGAAC ATTATTTTGTGGGCAAAGGGAAGCCTACAAATGCTTCTGTTCCTAAGTGT GCCACTGTAGGCTTGTTGGTAAGGAAACCATAAACATGTTATAGTTTAAA GGGCAAGATGGAATTAGAGAAAGAGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01169.hp1 HG01243.hp2 others(2): Show HG00735.hp1 HG01169.hp1 HG01243.hp2 HG02258.hp1 NA19070.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0006 a0007c0010 a0001c0001 a0004c0006 a0007c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 others(2): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0004c0006t0009 a0007c0010t0011	a0001c0001t0005g0012 a0001c0001t0009g0043 a0001c0001t0014g0016 others(2): Show a0001c0001t0005g0012 a0001c0001t0009g0043 a0001c0001t0014g0016 a0004c0006t0009g0042 a0007c0010t0011g0009	5	66	0.0758	-681	c.-20 others(20): Show c.-209-10616_-209-9936del		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24						chr11	TogoVar
MPPED1_chr22_43407014_43512848	43495235	GGTGGTGG others(674): Show GGTGGTGGTGGTGATGGAGGTGGTGATGGAGGTGGTGGTGGTGGTGATGG AGGTGGTGATGGAGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTA GTGATGGAGGTGTTGATGGAGGTGATGGTGGTGATGGTAGTGGTGATGGT GGTGGTAGTGATGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGAGGAGG TACTAGTAATGGAGGTGGTGGTGGAAGTGCTGGTGATGGTGGAGGTGGTG GTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGT GGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGATGGTGGAGGTGG TGGTGGTGGAGGTGGTGATGGTGGAGGTAGTAGTGGTGGAGATGGTGGTG GTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGAT GGTGGTGGTGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGG TGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTG GTGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGT AGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGG TAGTGGTGGTGGAGATGGTGGTGGTGGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03834.hp1 HG03491.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0137 a0001c0001t0016g0134 a0001c0001t0002g0137 a0001c0001t0016g0134	2	248	0.0081	-681	c.633 others(17): Show c.633-2989_633-2309del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
RP1L1_chr8_10601349_10660143	10607807	TTCTGGCT others(674): Show TTCTGGCTGGGCCTCCCCTTCTGCCTCCTGGGCATCTACATCTTCTGACT CTGGGTGGGCCTCCCCTTCTGCCTCCTGGACCTCCCCTTCAGCCTCCTGT GCCTCCTCTTCTGCCTCCGGGGCCTCTACACCGTCTGACTCTGGCTGGGC ATCCCCTTCTGTCTTCTGGGTCTCCCCTTCAACCTCCTGGGCCTCTTCAC CTTCTGACTTTGGCTGGGCCTCTACACCGTCTGACTCTGGCTGGGCCTCC TCTTCTGCCTCTTGCATCTCCCCTTCAGCCTCTGGGGCCTCTACATCTTC TGACTCTGGCTGGGCCTCCCCTTCTGCCTCCTGGGTCTCCACTTCAACCT CCAGGGCCTCTACATCTTCTGACTCTGGCTGGGCTTCCTCTTCTGCCTCC TGGGACTCTATAACTTCTGACTCTGGCTGGGTCTGCCCTTCTGCCTCCTG GGCCGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCGT CCTCCCCTTCAGTCTCCAGGGCCTCTACACTTTCTGTCTCTGGCTGGGCC TCCTTTTCTGCCTCCGGGGCTTCTGCACCTTCTGACTCTGGCTGGACCTC CCATTCTGCCTCTGGGGTCTCTACATCTTCTGACTCTGGCTGGGCCTCTC CTTCTGCCTCTGGGGCCTCTACATCTTCTGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp2 NA18989.hp1 NA19011.hp2 others(2): Show HG00558.hp2 NA18989.hp1 NA19011.hp2 NA19055.hp2 NA19066.hp1	a0012 a0020 a0012 a0020	a0012c0204 a0020c0014 a0012c0204 a0020c0014	a0012c0204t0001 a0020c0014t0001 a0012c0204t0001 a0020c0014t0001	a0012c0204t0001g0065 a0020c0014t0001g0139 a0020c0014t0001g0183 others(2): Show a0012c0204t0001g0065 a0020c0014t0001g0139 a0020c0014t0001g0183 a0020c0014t0001g0189 a0020c0014t0001g0223	5	412	0.0121	-681	c.561 others(9): Show c.5610_6290del	p.Ser others(15): Show p.Ser1871_Glu2097del	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	6555/8014	5610/7203	1870/2400			chr8	TogoVar
SHISA5_chr3_48462876_48509174	48480632	ACCTGTAA others(674): Show ACCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAC CCAGGAGGCGGAGGTTGCAGTAAGCTCAGATCACGTCACTGCACTCAAGC CTAAGTGACAGAGCAAGACTCAAATGTCAAAAATAATAATAATTTATCAG AAAACAGGAATGGTTAAAAATAAATGATATGGGCCAGGGGAAGTGACTCA TGCCTGTAATCCCAGTGCTTTGAGAGATCGAGGCAGGCAGATCAACTGAG GTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTAAAACCCCGTCTCTAT TAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAG CTACTCTGGAGTCTGAGGGAGGAGAATTGCTTCGACCCAGGTGGTGCAGG CGGCAGTGAGCCGAGATCACACCATTGCAATCCAGCCTGGGCGACAAGAG CGAGACTCCATCTTGAAAAATAATAAGAATAAATAAATAAATAAATAAAT AAATAAGATGATATTAAACTCAAGATGAGCTGGGCGTGGTGGCTCACGCC TGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGTGGATCATGAGGTCAGG AGTACAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAA TACAAAAAATTAGCTGGGTGTGGTGGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	288	0.0035	-681	c.234 others(17): Show c.234-2056_234-1376del		SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5						chr3	TogoVar
ASMT_chrX_1610059_1648081	1616178	ACCACCAC others(673): Show ACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATTCACCTGC CTCGGCCTCCCAAGGCCTCATTTCTTCTTCTCACAGAATAACATCGTGCT CAGTGAAGGAAGGCTGACGTGAAAGGCCCCATATGGTATGACTTCATTTA TATGAAATGTGCAGAGCAGGCAAATCCTTCGAGGTGGAAAGTGGACTGGT GGTTTGCAGAGGCTGGGCAGGACTGCGGAGGGAGTGTTTAACGGAGACAG TGTCCCTTTTTGGGGTGATGCAAATGTTCTGGAACCCGGCGGAAGTGCTG GCTATACAACATCACGAATGTACTAAGTGCCCCTGAATTATGCTTGAAAA GGGTTAATGATGGCCGGGCTCAGCGGTGACACCTGTCATCCCAACGGTTT GGGGGTCCGAAACGAGGGAATCGCTTTAGCCCAGGAATTCGAGACCAGTC TGGGCAACATAGTGAGACCCCCCATTTCTACAAATTCTTTTTTCTTTTTG AGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTC GGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGATTACAGGCACCCG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	218	0.0046	-680	c.69+ others(14): Show c.69+933_69+1612del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15931543	GGGAGAGG others(673): Show GGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0214 a0001c0004t0027g0214	1	110	0.0091	-680	c.198 others(17): Show c.198+1988_199-1943del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
EFCAB6_chr22_43523778_43817305	43578965	CATAGGCA others(673): Show CATAGGCATCATTCCGTACACGCAGGCATCATTCCGTACACGCAGGCATC ATACCCTACATGCAGGCATCATTCCCTACACGCAGGCATCATTCCGTACA TGCAGGCCTCATTCCCTACACGCAGGCATCATTGTCTACATGCAAGCATC ATTCCATAAGTATAGGCATCATTCTGTACACGTAGGCATCATTGCTTACA TGCAAGCATCATTCCATACACATAGGCATCATTCCGTACATGCAGGCATC ATTCCCTACATGCAGGCATCATACCCTACATGCAGGCATCATTCCCTACA TGCAGGCATTATTCCCTATACGCAGGCATTATTTCCTACAGATAGGCATC ATTCTCTACACGCAGGTATCATTCCCTACACGCAGGTATCATTCCCTACA CATAGGCATCATTCCCTACACGCAGGCATCATTCCCTGCATGCAGGCATC ATTCTGTACATGCAGGCATCATTCCCTACATGCAAGCATCATTCCATACA TATAGGCATCATTCTGTACATGTAGGCATCATTGCTTACCTGCAAGCATC ATTCCATACACATAGGCATCATTCCGTACACGCAGGCATCATTCCCTACA CGCAGGCATCATTCCCTACACGCAGGCATCATTCCCTGCATGCAGGCATC ATTCCCTACATGCAAGCATCATTCCATACAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp1 HG03041.hp2 HG03579.hp1	a0023 a0027 a0023 a0027	a0023c0033 a0027c0030 a0023c0033 a0027c0030	a0023c0033t0001 a0027c0030t0009 a0023c0033t0001 a0027c0030t0009	a0023c0033t0001g0181 a0027c0030t0009g0290 a0023c0033t0001g0181 a0027c0030t0009g0290	2	288	0.0069	-680	c.322 others(18): Show c.3228+819_3228+1498del		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	25/31						chr22	TogoVar
EXOC2_chr6_480154_698139	601195	TCCCCTTG others(673): Show TCCCCTTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTA CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04184.hp1 NA18969.hp2 others(1): Show HG03669.hp2 HG04184.hp1 NA18969.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0016 a0001c0003t0001 a0001c0003t0003 a0001c0003t0016	a0001c0003t0001g0038 a0001c0003t0003g0012 a0001c0003t0003g0185 others(1): Show a0001c0003t0001g0038 a0001c0003t0003g0012 a0001c0003t0003g0185 a0001c0003t0016g0029	4	228	0.0175	-680	c.743 others(17): Show c.743-2650_743-1971del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27						chr6	TogoVar
GAN_chr16_81309962_81395809	81384368	TTGCTGCA others(673): Show TTGCTGCAAACTGATTACTTGAAACTCAACTTGAACTTTAAAGAGTCTTT AAAAGGCTGTTTTCATAATGCAGAAAAGTAGTCTATTTAAACGCCACTGC TGTGTAAAACAGGGGGCTCGATTTCCATTCTTGTTAGCATCAGACAAGAA AATGTGTCTATCTGTCATCTGACCCAGTATTTGGGATTTGGGTGCTTGAG GATACTATTTTTTTCATTTCTTATAAGGTGCTATTGTTTCCCAGAAATCT TTAATTTTGATGAAAATCTACTCATTGCTAAGATCCTCCTCACTTAAAGT GTTTCCTCAGTGCAGAGTTGAGGTTGGCAGAACTATATAGAGTTGGATGA TACTGAAAATCATGAATGATGTGATTTGTTCCATGTATCTGTGGAACATC CCTCACCTTCCTCCGGTATGCGCCTTCTGCACTCCACACGTGGTCGCCTC CATCCTCCCTAGTGTCTGTCAGCTTGCCTGGTCACCAAGTCAGGAGGAAG AAGATGAGGAGGCTCACCAGTTGTAGGCAAGACTCTTCCTCTCGGGAGAT CTTGTAATAATGGCCCAGTTTCAGGGCACAGTTGTACACATTCTACTTAA ATGGAGGAGTTCAGTGATGCCGTGGCCAAAAGAGTTATGCCCATTTCTAA AAGCCTGGCATATTTGGTATAACTTAAGCAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0033 a0001c0001t0092g0033	1	382	0.0026	-680	c.67 others(11): Show c.6773_*7452del		GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	11/11				6773		chr16	TogoVar

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