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	status	chr	external
DAOA_chr13_105461045_105496034	105467142	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	410	0.0024	0	c.133 others(5): Show c.133+1G>A		DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding	3/5					chr13	TogoVar
DAOA_chr13_105461045_105496034	105467143	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	410	0.0024	0	c.133 others(5): Show c.133+2T>A		DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding	3/5					chr13	TogoVar
DAW1_chr2_227866631_227929344	227893919	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	338	0.0030	0	c.440 others(5): Show c.440+2T>G		DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	5/12					chr2	TogoVar
DAZ2_chrY_23214533_23296356	23247631	GGAGAGTA others(2365): Show GGAGAGTATTACCTCCAACTCACCGGAGCTGCTTTCCCCCTTATAAGCAG TTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATT CTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCTTTATTTGAAATGATTG CCACATGCCTCCTCATATAAATGGCTGACTTCTGGATATATTCTGGTTCT GGAATGGGCAGATTTCTGACGTGGTTTAGTATATATATATAAACCCGGTG AGTTTCTGGCATGTAATTTCTCTGATCGTGGTTACATTGATATTTAAAGT AGGGTTTGACATAGTGTGTCACTTACTGTTGATAAATATCGTTTATTTTC TTCTTAGTTCATTTCATTGATGTGTTAGCTTAAAAGACATTTTCTTTGAC AGAAAATGAAGTAATGAAATAATAGTGAAATCGTTCTGCTGTGTCTCTAA TTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCTT TTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCCCTACTTGTTTCTCTCG TTTACTGTGAGGCATTAGTGATTCTGGGTGTATTCATGTATGCTGCTAAC TGTATGTTTTCAAACAATAAGAATTTGTTGAAACATGTCAGACATTATAC TTTTTATTCTCCAGTATTGGAATATAGACTGCAATTAGTTTTTTGGAATG AAATACAGACAAAGCCATAACATCTATAGAACTACATATTACCCTACAAT ATTGTCTGATACAAAACAGTCTGGAAATATTCTTACAGCGAAATTGCAAA TGTATTGATTTACCTTACATTGCAATCTGTCTTAGTGGAACCTTATCACC AGTGTAAGACATAATTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAA TTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTTCCCCCTTCACACCCAA AGTGTAGCACTTGACATAGAATCTTTCTTTCCTCATAAAGTCATTCATTT GGAATTCTGCATTGTTGTATGTAGAAAAAGGATATTTTCCGTTTTGTAAT ATTTTTCTTATATTGGGAATTATATTTCTTTCTAATTTTAAAATGTGGTT TACCATATTCATTTTTTCTGCAACCTTTTCAGGCATTTCCTGCTTATCCA AATTCACCAGTTCAGGTCACCACTGGATATCAGTTGCCTGTATACAATTA TCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCTTTCAGGTATTATTGAG GCCTTTAACTTGTTTATAGAAATTTCCTGAATAGTTGGTCATTTTTAACT AGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTAGTGTAGAATGAAGACC TCTGTCTTATTTAGAAGTAATGAAGTAATATTTTTACAGGAATATCCTTG GCAATAACATTTGTGTAGAAGAGATTTCTGAGATTTGGTGTCCCCTTCTT CATTTGTGGATATAGTTTTCATCTTTGCTGTCAAATAGCTGAATGAAACA TCCAAACTGACTTTCATGAATTTTTTTAGGGAGATAGAGTGAAATAAAAT TATGATCCACTTTTCAGAGCACAGAATTCCAATTATATTTTCATTTTAGC TGGCTGTTTGACGGTAGTCATTCTCAGGATCTCTTCTCATAGATACAAGT ATATCTATGACCCATAACTATATCTATGGTAATAAACTGAAAGAGCTAGT ATTTTTGAGGTTTCCACATTGCCAACTCCCAAAAATTTGGAGAAAGGTGA AGATTCAAATTTAAAGTAACAAGAATGTCATGGACAAGAAACATAAAGTA CTTAAGTTTTCCTTTCTGTTACTTTTATTATAATAAAAAAGGAGACAGCG GAATAAGTACTTCAATACTGTGTTTCTCATGTGTGTTTGAAAATATGTAG GAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTTTTTTTTTTTTTAAAGA TGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTGTCCTTGAC GTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTT CCATGTCCTATATGCCTATAAATATTTTTAAGTGATTCTTTATATTAATT TTTTTGTCGTTGTTACTTTCTTGTTAACCCGATTATGAACTCCCATGGGA GCAAGAGTGCCTTTTTTGCCCTCAGGTTTTTATGTGCCTAAGCAATGGCA GGTCCACATAATGATAGACTATATAATCACAGAAAAGTAGTATTCACTTG ACTTTAGAATTATCACGTATCTGCCAATAATCTGCCTCTGGCTTTACCAG CAATAGAAAATTTATAGAAGAGAAACAGAATTGCTTTGCTGTTAATGACG CTTAAATAAGAACAGGAGTGAAC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01243.hp1 HG01261.hp1 others(5): Show HG00738.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01934.hp1 HG03139.hp1 HG03579.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0034 a0002c0002t0001g0003 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0034 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0043	8	52	0.1538	-2372	c.107 others(19): Show c.1075-1114_1147-1125del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	15/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ2_chrY_23214533_23296356	23274497	TTGACGGA others(2377): Show TTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCTGCCGTGTC TCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTACACCTC TTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTACTTCTTTC TGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCATGTATGCTG CTACCTGTATGTTTTCAAACAATAAGAATTCATTGAAACATATAAGACAT TATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTAGTTTTCCG GAATGAAGTACAGACAAAGCCATAACGCGTGTACAACTACACATTGTCCT ATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACAGGGAAATA GCAAATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTA TCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACACAGTATAAG GTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCCCCCTTCAC ACCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCATAAATCAGT CATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGATATTTTCCC TTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGTAATTTTAA AAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTTTTCAGGCA TTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGATATCAGTT GCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATTATTTGCTT TCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCCGGAATAGT TGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAAACACTTAG AATTAGTGTAGAAGGAAGACCTCTGTCTTATTGAGAAGTAATGAAGTCGA ATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAACAGATTTCT GAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCATCTTTACT GTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAATTTTCTTAG GGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAGCACAGAATTC CAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAATTCTCTGGG TCTCTTTTCACAGATACAAGTACATCTATGCCCAATAATTATATCTATGG TAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTGCCAACTCC CGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAACAAGAATGT CATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTACTTGTAT TATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTGTTTCTC ATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTTTCCTTT TTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAGCAAAGGG ATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGACTTCCTGT TCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTATTTTTAAGT GATTTTTATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGTTAACCCG ATTATAAACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGAGGTTTTT ATTTGCTTAAGCAATGGCAGGTCCACTTAATGATAGACCATATCATCAAA GAAAGGTAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGCGTAGATT CTGCCTCTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAGACAGAAA TGCTTTGCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACGAGAGTAT TACCTCCAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTTCCTAAAG TGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCTTCGGTAA GTTTAACAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCCAGATGCC TCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCGGGAATGGGT AGATTTCTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCTTCTTGCA TCTAATTTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGTTTTGACA TACTCCATCACTTAATGTTGATAAAGGACGTTTATATTCTTCTTAGTTCG TTTTATTTATGTGTTAGCTTTAAAGACATTTTCTG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03688.hp1 HG03688.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0047 a0006c0008t0001g0047	1	44	0.0227	-2384	c.165 others(17): Show c.1651-196_1723-197del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	23/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24881957	CTCCCTGA others(2378): Show CTCCCTGACCGCTTGCGCGTCCCAAGTGAGGCAATGCCTCGCCCTGCTTC CGCTCGCACGCGGTGAGCCCACCCACTGACCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCC GTCTTCGGCGTCGCTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATT CGGCCATCTTGGCTCCTCCCCCACCCCCCTTTTTTTTTCAAGATGCCACC ATAGGGGCCTGTTGGGGAGCAAAGGGATTATGTTTTCCTTGATGTTAAGT GAATTAGCCAAACATAGACTTCCTGTTCATTCTTGGTTTTTTTCCACGTC GTATATGCCTATTACTATTTTTAAGTGATTTTTATATCAATGTTTTAGTT TACTTTTTTACTTTCTTGTTAACCCGATTATAAACTCCCATGGGAGCAAC AGTGCCTTTTTTGCCCTGAGGTTTTTATTTGCTTAAGCAATGGCAGGTCC ACTTAATGATAGACCATATCATCAAAGAAAGGTAGTATTCATGTGGCTTT TGAATTAGCATGCATCTGCGTAGATTCTGCCTCTGGCTTTACCAGCAACA GAAAATTTGTAGAACAGAGACAGAAATGCTTTGCTGTTAATTGCGCTTAA ATAAGAATAGGAGTAAACGAGAGTATTACCTCCAAAGCACCAGAGCTGCT TTCCTCCTTATAACCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATG TGTCTGCCTACTTCATTCTTCGGTAAGTTTAACAGTTCATCTAGCTACCC TTTATTTGAAATGATTTCCAGATGCCTCCTCATATAAATTGCTGACTTCT GGATATATTCTGGTTCGGGAATGGGTAGATTTCTGATGTGGTTTAGTAGG TATATAAATCCCGTGAGCTTCTTGCATCTAATTTCTCTGATCCTGCTTAC ACTGATATTTAAAGTAGGTTTTGACATACTCCATCACTTAATGTTGATAA AGGATGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAA GACATTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTT CTGCCGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTAT GGTACACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCC TACTTCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTC ATGTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTATTGAAACA TATAAGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACT TAGTTTTCCGGAATGAAGTACAGACAAAGCCATAACGCATGTACAACTAC ACATTGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGA CAGGGAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAA TGGAGCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTAC ACAGTATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTT CCCCCTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTC ATAAATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACG ATATTTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTT GTAATTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTC TTTTCAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTG GATATCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAA TTATTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTT CCGGAATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGG AAACACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTA ATGAAGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGA ACAGATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTT CATCTTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGA ATTTTCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAG CACAGAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCA ATTCTCTGGGTCTCTTTTCACAGATACAAGTATAACTATGCCCAATAATT ATATCTATGGTAATAAACTGAAAGAGCTAGTATCTT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0003 a0004c0005t0001g0003	1	40	0.0250	-2385	c.164 others(18): Show c.1642-1805_1713+508del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	21/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24882359	CTTTTTTA others(2378): Show CTTTTTTACTTTCTTGTTAACCCGATTATAAACTCCCATGGGAGCAACAG TGCCTTTTTTGCCCTGAGGTTTTTATTTGCTTAAGCAATGGCAGGTCCAC TTAATGATAGACCATATCATCAAAGAAAGGTAGTATTCATGTGGCTTTTG AATTAGCATGCATCTGCGTAGATTCTGCCTCTGGCTTTACCAGCAACAGA AAATTTGTAGAACAGAGACAGAAATGCTTTGCTGTTAATTGCGCTTAAAT AAGAATAGGAGTAAACGAGAGTATTACCTCCAAAGCACCAGAGCTGCTTT CCTCCTTATAACCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGTG TCTGCCTACTTCATTCTTCGGTAAGTTTAACAGTTCATCTAGCTACCCTT TATTTGAAATGATTTCCAGATGCCTCCTCATATAAATTGCTGACTTCTGG ATATATTCTGGTTCGGGAATGGGTAGATTTCTGATGTGGTTTAGTAGGTA TATAAATCCCGTGAGCTTCTTGCATCTAATTTCTCTGATCCTGCTTACAC TGATATTTAAAGTAGGTTTTGACATACTCCATCACTTAATGTTGATAAAG GATGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAAGA CATTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCT GCCGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGG TACACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTA CTTCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCAT GTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTATTGAAACATA TAAGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTA GTTTTCCGGAATGAAGTACAGACAAAGCCATAACGCATGTACAACTACAC ATTGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACA GGGAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAATG GAGCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACAC AGTATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCC CCCTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCAT AAATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGAT ATTTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGT AATTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTT TTCAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGA TATCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATT ATTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCC GGAATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAA ACACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTAAT GAAGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAAC AGATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCA TCTTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAAT TTTCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTGCAGAGCA CAGAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAAT TCTCTGGGTCTCTTTTCACAGATACAAGTATAACTATGCCCAATAATTAT ATCTATGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTG CCAACTCCCGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAAG AAGAATGTCATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTT ACTTGTATTATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTG TGTTTCTCATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGG TTTCCTTTCTTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGG AGCAAAGGGATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAG ACTTCCTGTTCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTA TTTTTAAGTGATTTTTATATCAATGTTTTAGTTTAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00738.hp1 HG01192.hp1 HG01243.hp1 others(6): Show HG00738.hp1 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01515.hp1 HG01943.hp1 HG02074.hp1 HG03688.hp1 HG04199.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0039 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015	9	32	0.2813	-2385	c.164 others(17): Show c.1642-803_1714-804del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	21/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24885346	CGTTTATA others(2378): Show CGTTTATATTCTTCTTAGTTCGTTTTATTTATGTGTTAGCTTTAAAGACA TTTTCTTTGACGGAAAGTGAAGTAACAAAATAATAGTCGAATAGTTCTGC CGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTATGGTA CACCTCTTCTTTTTCCTTCTCTGAACAATGGCTAGAAAAAAAACCCTACT TCTTTCTGTCATTTACTGTGAGGCATTACTGAATCTGGGTGTATTCATGT ATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTCATTGAAACATATA AGACATTATACTTTCTCTTCTCCAGTATTGGATTATAGACTGCACTTAGT TTTCCGGAATGAAGTACAGACAAAGCCATAACGCGTGTACAACTACACAT TGTCCTATAATATTGTCTGATAAAAAACAGTGTAGAAATATTCTGACAGG GAAATAGCAAATGTATTAATTTAACTTACCTTGCAATCTCTGTTAATGGA GCCTTATCACCAGTGTAAGAAATAACGTCTGGGTGTGAATACGTACACAG TATAAGGTAAACTTTGGTGAAGTCGTCAATTCTTTTGTCATTTCTTCCCC CTTCACAGCCAAAGTGTAGCACTTGACATGGAATCTTTCTTTCTTCATAA ATCAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAACGATAT TTTCCCTTCTGTAATATTGTTGTTATATTGGGAATTATATTTCTTTGTAA TTTTAAAAAGTGGTTTACCATATTCATTTTTTTCTGCCAACCTTTCTTTT CAGGCATTTCCTGCTTATCCAAGTTCACCATTTCAGGTCACCACTGGATA TCAGTTGCCTGTATATAATTATCAGGTAATGTAAGAAGGAGTAAAATTAT TTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATACAAATTTCCGG AATAGTTGGTCATTTTAAACTAGTGAAGTGTACCTAAAATTTAAGGAAAC ACTTAGAATTAGTGTAGAATGAAGACCTCTGTCTTATTGAGAAGTAATGA AGTCGAATTTTGACAGGAATATACTTGGGAATAACTTTCCTGTAGAACAG ATTTCTGAGATTTGGTGTCCCATTCTTCATTTCTGGATGTAGTTTTCATC TTTACTGTCAAATAACTGAATGAAACATCCAAACTGACTTTCATGAATTT TCTTAGGGAGATAGAGTGAAATAAAATTATGACCCACTTTTCAGAGCACA GAATTCCAACTATATTTTCATTTTAGCTGGCTGTTTCACGATAGCAATTC TCTGGGTCTCTTTTCACAGATACAAGTACATCTATGCCCAATAATTATAT CTATGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTTTCCACATTGCC AACTCCCGAAAATGTGGAGAAGGGTGAAGTTTCTAATATAAAAGTAAGAA GAATGTCATGGAGTAGAAACATAAAGTACTCAAGTTTTCCTTTCTGTTAC TTGTATTATAATAAAAAAGGAGACAGCAGGATAAGTGCTTCAATATTGTG TTTCTCATGTGTTTTTGAAAATGTGTAGGAATATTTTAATAGTTTTGGTT TCCTTTTTTTTTTTTTTTTTAAGATGCCACCATAGGGGCCTGTTGGGGAG CAAAGGGATTATGTTTTCCTTGATGTTAAGTGAATTAGCCAAACATAGAC TTCCTGTTCATTCTTGGTTTTTTTCCACGTCGTATATGCCTATTACTATT TTTAAGTGATTTTTATATCAATGTTTTAGTTTATTTTTTTACTTTCTTGT TAACCCGATTATAAACTCCCATGGGAGCAACAGTGCCTTTTTTGCCCTGA GGTTTTTATTTGCTTAAGCAATGGCAGGTCCACTTAATGATAGACCATAT CATCAAAGAAAGGTAGTATTCATGTGGCTTTTGAATTAGCATGCATCTGC GTAGATTCTGCCTCTGGCTTTACCAGCAACAGAAAATTTGTAGAACAGAG ACAGAAATGCTTTGCTGTTAATTGCGCTTAAATAAGAATAGGAGTAAACG AGAGTATTACCTCCAAAGCACCAGAGCTGCTTTCCTCCTTATAACCAGTT CCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTCATTCT TCGGTAAGTTTAACAGTTCATCTAGCTACCCTTTATTTGAAATGATTTCC AGATGCCTCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCGGG AATGGGTAGATTTCTGATGTGGTTTAGTAGGTATATAAATCCCGTGAGCT TCTTGCATCTAATTTCTCTGATCCTGCTTACACTGATATTTAAAGTAGGT TTTGACATACTCCATCACTTAATGTTGATAAAGGAT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02735.hp1 NA20805.hp1 HG02735.hp1 NA20805.hp1	a0004 a0008 a0004 a0008	a0004c0005 a0008c0007 a0004c0005 a0008c0007	a0004c0005t0001 a0008c0007t0001 a0004c0005t0001 a0008c0007t0001	a0004c0005t0001g0006 a0008c0007t0001g0005 a0004c0005t0001g0006 a0008c0007t0001g0005	2	25	0.0800	-2385	c.171 others(17): Show c.1714-312_1786-313del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	22/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DBF4B_chr17_44703665_44757264	44708840	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00558.hp2 HG02145.hp2 HG02630.hp2 others(8): Show HG00558.hp2 HG02145.hp2 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03540.hp1 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 others(8): Show a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284	11	286	0.0385	0	c.19+ others(4): Show c.19+1G>T		DBF4B	ENSG00000161692.18	transcript	ENST00000315005.8	protein_coding	1/13					chr17	TogoVar
DCBLD1_chr6_117477674_117554797	117521577	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18981.hp1 NA18981.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0271 a0007c0021t0001g0271	1	368	0.0027	0	c.512 others(5): Show c.512+1G>A		DCBLD1	ENSG00000164465.19	transcript	ENST00000338728.10	protein_coding	4/14					chr6	TogoVar
DCDC2C_chr2_3698575_3853008	3778886	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01123.hp2 HG02145.hp1 HG02486.hp1 others(11): Show HG01123.hp2 HG02145.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 NA18906.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0010 a0001c0005 a0005c0010	a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 others(4): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0001c0005t0010 a0005c0010t0013 a0005c0010t0019	a0001c0005t0001g0214 a0001c0005t0001g0216 a0001c0005t0001g0246 others(11): Show a0001c0005t0001g0214 a0001c0005t0001g0216 a0001c0005t0001g0246 a0001c0005t0001g0308 a0001c0005t0002g0129 a0001c0005t0002g0141 a0001c0005t0002g0307 a0001c0005t0005g0264 a0001c0005t0008g0169 a0001c0005t0008g0170 a0001c0005t0008g0176 a0001c0005t0010g0304 a0005c0010t0013g0241 a0005c0010t0019g0240	14	322	0.0435	0	c.102 others(6): Show c.1023+2T>C		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	9/10					chr2	TogoVar
DCD_chr12_54639589_54653365	54647120	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02886.hp1 HG03130.hp2 HG02886.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	2	426	0.0047	0	c.97+ others(4): Show c.97+1G>A		DCD	ENSG00000161634.12	transcript	ENST00000293371.11	protein_coding	2/4					chr12	TogoVar
DCTN2_chr12_57525051_57552192	57547016	TCCTGTAC others(8): Show TCCTGTACTCACAATG	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19012.hp2 NA19012.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0034 a0004c0006t0002g0034	1	349	0.0029	-15	c.33_ others(23): Show c.33_36+11delCATTGTGAGTACAGG	p.Ile others(4): Show p.Ile12fs	DCTN2	ENSG00000175203.17	transcript	ENST00000548249.6	protein_coding	1/14		33/1206	11/401		chr12	TogoVar
DEFA1B_chr8_6991766_7004198	6998056	CACTTTTT others(6135): Show CACTTTTTAACATTCCAAAAAGAATAGAAATTGCACTTTGATTCAACAGG CTCAGGGAACAAATGCTTCTTATTTTCTGAAGATGGGTCCTGCTGTTCTC TGGAGGTCTAGATTCTGGTGTCCTATATGAGTTCCAATGGAATAGCGAGT AATTCACTTCAGGATTCAGGTGACTTACCATCCTCATGAAGAGGTTTTTG AGGTTATGGGGTGAGTAGTCTCCTGTAGGAATCAGGGTGGAGAGGACAAT GATTTTATCAGGCTAAAGGTGAAATCAGCTCAGTGACACAGAGTGGTTTA AGTAAAAAAAAGAAAGTTTATTATTTCCACCTCTACTTAGACTTGAGTAA CAATTAACAATTGTATATTTATAGTGTACACTACCTCATGATTTTATATA TGTATGTATTTAAATCTTTATCTCACACCATGTAGAAACATCAACTCAGA ATGAATTGAAAACCTAAATGTAACAACTGAAACCATAAACTACTAGAAGT GTATAGAAGGATAAAGCTTTTGACATTGATGTAGGTAATGATTTCTTGGC TATGACACCAAAGGCACAGGCAATAAAAGGGAAAATAGACAAGTGTGGCT TCATTTAACGCTAAAGCATCTGCACAGCAAAGGAAACAATCAACCGAGTG AAAAGATAACCCAGAAAATGAGAGAAAATATTTGCAAAACCTACATGGCC GAAGGGGCAAATATCTGAATACATAAGGAATTCCAACAACTCAATAGCAA AAATCAAACAACCTGATTGAAAAACAGACCAAGGACCTAAATAGGTTTCT CTCAAAAGAATGTTCCAAAGACCTGTGATAGTCTCTACTGGACATGTCAA CCAGGACATGTGTGTTTAGAAGGAAACTGCTTGAGTTTCTCTATTAAGTT AGCTGGAAGCCATCGTCCCCAGCAGTCACCAGAGGTCCGGACAGACGTTC CTAGCAGGGATTCGCCCGCTGGTTCCCTCTGGGGTGGCCCCACAGTCAGA GGTCAGATTGGAGGCATAGCTTCAATAATGAAAACTCAGTGTAAAGTTTA AGTTTTGTAGTACTTACAGATCCTCTAGCTAGGCAGGGTGACCAGAGAGG GCAGACAGCAGTCCTCTGTCCCAGGTCTTCTATAGCAAGGAGCAGCCGTG CACAAGTGGACTTCCCCTATTTAAAGGTCTTTTGGGATGAGGTGTCCTAA TTTCCGGGGTTACTTTCTGTTGGGTCCATTAAATAATTGTGGTGGCAAGG ACAGTTGAGAAATTTGGTGGGAAGGTGAGGTTAAAGTAGAACTCCACAGA GGAACCTCTCATCTACCTTGGTCAGCCCTGGCCAGGCCCAGGCAGCAACC AACTATGGATTCTCAATGGCTCCTAACACAGTTGACCCTGTGATGCATTG GCTGTGGCTAAGCTGAACTACCTGCACCAAGGGAATATTTAAAGCCTCTG GGACAGCCTGGCTGCGTATCATAGTATACACCCTGCAAAGAGATTGGGAT AGGAATGCCACCTACACACAGAGGAGGATTTGGAATGTGTTTCTAAAGCA GTGTCCCGAGGACCTGGGGTCTAACCATAAAAAGCAATGAAAGCCATTTG GCTGAGCTGGGATGTTGGAGAACACCCAGGTGAGAATGAGTGCTACCTGG GCTTCTGTTGCTATGTGGAACAGACATTTTTGGGTTCTCCTGAGTACTGG ATGTACACGCGGCATGTGGTTCCCCAGAGGTGACTATCACCTGTTTGCTT GGCCAATGAACAGTTTAAGCTTAAACAATTGTCTAGGATCATCTGGGCCA AGAACTGGTCTGAGGCATTAGCCATCAGGGTGGGAGTGGCCTTTCCAGAT GGCCACCCAAGAAAGGAGGTGGGAGTCTGGGCATTCACTTTACTGCTGGT GTTGCACAGCCTCTCAGGCCTTGTGGGCCTTCAGAGAAGCATTCAGCAAA AGCTTGAGTGGTGCTTTCTGGGAGGCATAGGAGTTTCCATCCTTCACTGG TACACATCGGAGAACAGGTGTATCCCTGAGCCCATGATCATGTCTGGATG CTTTCTGTGAATGCAATGCTCCAACTCTTCAGGCTGCAGTCTGGGTGTGT GCTGCGGCGTCATGAGCCCATTTGGATTGAAGCCTGTGCATCCAGAGAAC TACCTCCTCATCCTTAAAACACGATCTGTGGTTGTGAGGGCTGCTGGTGT TTAAGCATTGGTGCCATGGGACCCATTCAATATCTAAGGGTTGAGTTGCC CGCCTTGGACACAGGTCAGGTTGTATCTGGGGTGCAGCCCCTGTAACAGG GCTTACAGGGAATTCCCCAGTTTTCCAGTCTGGGGTACAAATTCTGACTA GGGCTGTCCTGTTCCAGCAGCCCTCTAGGCTGCCAGGCCTGGGTTAAACA GCTACCCCACAAGCCATTTGTACATAAGATACCAAGCAAGGCCAATCATA GAGAACACTGACATCTTGTCACTCAGGGCTTTCTTCCCAGTGCTTCTATA TTGACACTGATGATGGGGTTGGCTGGCACCCACTTTTCCTTGGAGCCTTT CTCCCCCATGGCCACGTTTGGTGATGGCACTTCCATATGGTCTTTGCCTG ACGTAGTTGGTGTCTCTAGTTTGAAGGCTTCTTCTCCTCGTTACTGCCTC TGACTGCACCCTCGGTGGGTTCTGGAGCAATAATCCCTACTTCCTGCCAG GAGAAGTAAGTGGGAAATATTAGCTAACCTTTAAAACCGGTAAAAAAGGG AGCTTTTGCCAGAAGCTGCATGTGAAATGGAGAGGTGTGGTCTAACAAAA GCCTCGTGGTCCTGCTGGGTGCCAGTGGGCCTGGGGGGTTATCCTCAGAA GATCGTAGTTTACTATCCATCCACAGTCCATTGTTCAGTATATGTTTGAT GTTGAGATGGTGGATGTCCTGTGATGATATGGGGAGGTCTCATTATTGGA GAACATGTAAATGATGTTATCTGTAAGGGAAAAAAGAAGCTAACTCTTCT GTGATCACCAAGATAGGCACCAAAGTGCGTCTAGCCCAATTGTGATGAGG CAGTGGTGGCCATGGGATTGAGAGTTAAAAAAGTGACGGCCCTTGGAAGG ACCTTGGTGCCTTGGGTGTCCATAGCACATCCAGAGACATTAATAACCAT GACTTTAGGAGGCCACCGTGCTGCTTGAGGAGGCTGGTGGCTTGGGGACG ATGGACTAAATGAGACTCCCTTAACCCACCCTCGTGTTGTGATGTCCTGA GGTGGGAGCCTCCATCTGAATCAATGATAGGTGTGGTTCTAAAGGAGATA GTGAAGAAATGCCACGTAAAGAGAACACCTGCTCCACGCAGGGCATAAGG AGCTACGGTCCCTGGAAGACTACATGTGCAGAAGCTCATAGTTAGGACAG GTGTGCTTTGTCCAGAGGCTCTGAGACTTATGATGGGTGGTAGTGAGGGC CTCCCCATGAAACTCAGAACCCGGGACCCGGGCATGGACTAGAGAGATCA CCTGCTGGACCAGCAACAGACTGTATCCTGCTGTGGCCCCAGTGGATGTG AAGGGCTTCTGGGTGATGGCATTTGTGGGCCTCAGCAGAATGGACAAGTG GGGTATAGCTGTCTCCAAAGACACGATGTCCCAGTACATGGAGGGCCAGC TGCAAAGTGGCTAGGACACTAGTGGTGAGGATTTGGTTTTTAACTGCAAG GGGACTTTGTCAGCCCACTGATGACAAATTGATGCCCAGAATCTTTACAA CAGTGCTGGAGGGGCCATGAGTGTGTCCTCCAGAAACGTGGCCACTGTCC AGGAAGAGGGAGAGCGGGTGCAGCAGCTCTGCCCATATGTCCTGGCCCAG GCGGTGGCTTTACATGCAGCACCCAGAGCGATTTGGGGAGCTGAGGGAGA ACAGAGACCCTCCAGCTGGCTCAGAGTCACTGGTGGCTCCTGTCCCTGGA GGGGTGGCCTTCTCTGCCCCAACCCAGTCTTGTGCTCTCCTTCCCTGCCA TTCTTGGCTGCAGGACTGGGAACCATCTGCTGGGACGTTGCTCTGTGTCT CCCTCATGGCCATGCTCCCATCTTTGCCTCCTCCATAGACTGCGGTCAGG ACTCAGCAGCCCAGAGCCCCAGCAGGGTCTCAGTCTGTACTGAGGTCACA CCTAGGCATTGTCGCCATCCTTCGGCAGGTGATTCTCAAACTCCAAACTC AAATTAGAACAGAGAGATTCTTCCCTGTGGTCCTTTTCACTTTTCTCTTT TGGCTGCACCAGAACCTTGGCAGAATTTTGTGGTTTAAACAAAAAAGGTG TTATGTCTACAGATTTTTTACAGTACTTTCACTTCCATGTTGATCCATAG TCCCCAACCCCAGCCTGATGTTTTCCACTGATTGCAGCCAGTGTAGACAA TCAGTGTCCACACTGTGGACACTATATGTAGATGCAGCTGAAGCTGTTTT TTTCAGACACACGCATTTGAATTTTAGGGAATATTGAAGCGAGTCTAGAC TCAATAAAAACCTTGACATCATTAGGCTGGGGTAAACATTCTGGAGAAGC TGTGGGTGGGGTTGTAGGTGTGAGAGGAGAGAAGCTTCCAGGAGCAGCAC ACATATTCTCACACATGTTTATGGTGTCTGGTGGCCCCAGCAGACACAGT GTGTGTGGACCTTGGGCGGGGCCCTGGGGTTATGGTTTTGACCCGGTAGG AAAGGGTAGTCATGGAACACAGCATGCGTGTTACCATGGGGCGCAGCGGG GGCTACGCAGAGGTGAGCTCTGAGGAGGACCCTCCACCTCCCAGCTCCTC AGAGTGCATCGCGCTGTCCCTCCCCTCAGCCCTTTGTCCACTGTCCTGCA GGGAGGGTCCTGGTGCTGCCTGTGCCACACAGTCACTCCCGGGCCTGCAG ATCCAGCTGGGACAGGTAGGAGCTCCAAGTCCCTGCCCTTTGTCTGCCTT TCCCAGCCGCCTCTCACAAGCTGTCTGTGTGTCTGGTGTTGAGGATTGCA GCAGGTTTATTTTACAATAAACCATAAGGAAATAGCTTCCTTGAGCTGTT TTAAAATATGGCCCTAAATCCCTGACTCTTTTCACATAAAAATGGAGGTG AAAATGGCTCCTGTTGAATCTAGATTGGGCGACATCTTGACCAGTTGAAC ACACCTGACTTAGCACCGTGCTGTTTGTTGGGCTAAGGTCATAAGAAGTT GGTATCTTTCACTTCCTGAGTATTGGATGGTGCTGCAGCCTGAATGTTTT TGTCCCTCTGAAATTCATATGTTGAAATCCCTCCTCTGGTGACAGCATGA AAAGGTGGGGCTTTCTGGGAAGTGATATGTTCAGGAGGATGGAGTCCTCA TGAGTTGCATTAGTGCCCCTGAGGAAGAAGCCCCAGAGAGCTCCTTCATT CATTCCCTCAGGTGAGGAAGCAGTGAGAAGGTAGCATCTATGAACCAAAA AGCTGGTCCTCACCACACACCAAATCTGTTGGCACCTTGATTTGGACATC TCAGCCTCCAGAACACTGAGAAATGTATTTTTGTTGTTTATAAGTCACTT GGTGTATGATTTTCTTTCCCCCAGCATCCCACATATACTAAGAGTGCTGG TGCCTTTGAAGCCCAGCTACAATGCTTGGAGGAAGTCTAAGCATTGCAAA AAAAGGAACTGAACCCACCTGCAAGGAAGAGCTAGAGAACCCAGAGCAAC CAGCTTTCTAGGAAAAACAAAACTCTGATATGCAGTGTTTGTAAATCTCT CTGGTTCAAATCCTCCTAGCTATGAGTGGGATAAAAAGTGTCACACCTAT CTTTTCTCTCATGAGCTGGCATGACCTGGCCTCAGTGCATCACAGTATCT CATCCCTCAGCCTGTCAGAGCTCCCACTGAGCCAGCCCAGCACTCCCCGC TACCTGTGCGCAAGCGTCTTGGCCCTGAGGTTTTCAGCTCCCAGCAGAAC CTGTCCTCTGTTGCCCATGGAGGGGGCTATGTCCCAATTGCAAATGTGTG AATGACGACCTGATCGTGCTGTTTTAATTCCCTAAGTTTTGTGGTGTCTT TTCACACAGCCCTAGATGAACAGAGGGCATTTTCACAGTATTGCTGAGGA ATTGGATTTGTACATATTTTGTGTGTGTAAATCTCAACTTCTC	C C	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02258.hp1 HG02622.hp2 HG02258.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	224	0.0089	-6142	c.-50 others(13): Show c.-5088_-12-294del		DEFA1B	ENSG00000240247.8	transcript	ENST00000382689.8	protein_coding	1/3					chr8	TogoVar
DEFA4_chr8_6930820_6943306	6936727	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02015.hp2 HG02074.hp1 NA18960.hp1 others(15): Show HG02015.hp2 HG02074.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18978.hp1 NA18979.hp2 NA19006.hp1 NA19012.hp1 NA19060.hp2 NA19064.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19086.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	18	484	0.0372	0	c.172 others(5): Show c.172+1G>T		DEFA4	ENSG00000164821.5	transcript	ENST00000297435.3	protein_coding	2/2					chr8	TogoVar
DHDH_chr19_48928699_48949969	48935479	CCACTGCA others(2284): Show CCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTTGGTCTTAGAAATAA ATAAATAGGCCGGGCGCGGTGGCTGACGCCTGTAATCCTAGCACTTTGGG AGGCCAAGGCGGGCAGATCATGAGGTCCGGAGATGGAGACCATCCTGGCT AATACGGTGAAACCGCATCTCCACTAAAAATACAAAAAATTAGCCGGGCA TGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGCGAAGAGTGAGACTCCGCCTCCAAAAAAAAAATT AATTAATTAATTAAAAATTTTAAAAAAGAGAGCGAGAATGGCGAGAGGTA ACAGCCCCTTCCTAAGGACAGCTCCCTAAGGGAGACAGGGGTGTGACCGA CCACCTGGTCCCTGGGTGCTAGGGCGGGGCCTCGAAGTTGTGGGCGGAGC TCGGCTGTCTGGGTGGGCGGGGCTGCTGACCTCTTGACCTACTCCCACCC TAGAGGTGGCCTACATTGGCACCCAGCACCCCCAGCACAAGGCGGCGGTG ATGCTGTGCTTGGCGGCGGGCAAGGCCGTTCTGTGCGAGAAGCCCACGGG CGTGAACGCGGCGGAAGTTCGCGAGATGGTCGCGGAGGCCCGATCCCGAG CCCTCTTCCTTATGGAGGTGAGGGCAGAGGAGCCCTTCCAATATCCAGCG TAAAAGTGCTTGCCATTAAATATGGTTGCCAGTGCGCGGACGGGGTCAGT GCATTTGCCAGGATGTATCTGAATCTCCTTGGCAGCATCTATTACCGTGA AAGCCATTGCTTTTGGCCCTTAGCAAACACGGCAAGGCTTACTGAAATTG CTTGGATCTTTTGTCAGTCTTTAAGAAAAAGATGCCGGCCGGGCGCGGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAGCAC GGGGTCAGGAGATCGAGACCGTCCTGGCTAACATGGTGAAACCCCATCTC TTCTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTCAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACA CAGTGAGACTCCGTCTCAAACAAGAAAAAAAACAAACAAAAAAAAAAACA AGAAAAAGATGCCAAGAGTGAAAGTGGCATAGAATGGCAATGGCTTAGTT TGGGTGGGGTTCCAGGTAGAGGTTGAAAGGACCAAGGAACCCCCTACAAA CCTGCAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAG GTTAAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT TCACCATGTTGGCCAGGCTGGTCTCAAACTCATGACTGCAAGTGATCCTC CTGCCGCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCCCTACCTCAAGGTCTTTCATGTAATCCTATCCGCCAGGACCCCTT AGCCTTGTAAAGTCACACATTCACAGACTCCGGGGATCATCAGGTCGTGG ATATCTTTGGGGGCACCAGTAGCCTACTGCCACAACACCCAGGCTCAGAG CCTGCGCAGAGCCTGCCCCCGGCTCCCCAGTGCCCTCAGGCCTGTGTTCA CGCTCCTCTCGACTGCTCCGAGCCCGGGCGGACCTCGGCCACATCCGTCC TGCCCCGCCCTTCCCCCGTGAGCCCTGACACTCTTGCGTCAGCATTTTTA GAAATTGCTGGTGTGGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGAC CAGCCTGGCCAACATGGCGAAACTCCGTCTCTACTAAAAAAGTACAAAAA TTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTCGAGAGGCA GAGGCGGGCGGATCACGACGTCAGGAGATCGAGACCATCCTGTCTAACAC AGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTAAGATCCCGA	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG03704.hp1 HG03704.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0001 a0017c0026t0001	a0017c0026t0001g0175 a0017c0026t0001g0175	1	434	0.0023	-2291	c.202 others(16): Show c.202+387_366+1593del		DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	3/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
DHRS2_chr14_23631364_23650639	23644544	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0038 a0006c0005t0002g0038	1	444	0.0023	0	c.675 others(5): Show c.675+1G>A		DHRS2	ENSG00000100867.15	transcript	ENST00000250383.11	protein_coding	7/8					chr14	TogoVar
DHRS9_chr2_169064563_169101167	169083588	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	396	0.0025	0	c.572 others(5): Show c.572+1G>A		DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	3/4					chr2	TogoVar
DHX34_chr19_47344315_47387704	47381316	GGCCCCCA others(40): Show GGCCCCCAGGTAAGCACAGGACTGTGGGGACCCGGCCACCTCTGCCCA	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0023 a0023	a0023c0023 a0023c0023	a0023c0023t0004 a0023c0023t0004	a0023c0023t0004g0229 a0023c0023t0004g0229	1	380	0.0026	-47	c.329 others(59): Show c.3294_3298+42delCCCAGGTAAGCACAGGACTGTGGGGACCCGGCC ACCTCTGCCCAGCC	p.Pro others(6): Show p.Pro1099fs	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding	16/17	3609/4338	3294/3432	1098/1143	INFO_REALIGN_3_PRIME	chr19	TogoVar
DIAPH2_chrX_96679842_97609997	97348277	T T	TTTGGACA others(12): Show TTTGGACACTAGATCGCGTG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0135 a0002c0006t0001g0135	1	147	0.0068	19	c.300 others(32): Show c.3009+1_3009+2insACACTAGATCGCGTGTTGG		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	24/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DIDO1_chr20_62872743_62931505	62926430	ACCGCAGG ACCGCAGG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01952.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18946.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0015 a0016	a0001c0009 a0002c0002 a0003c0003 others(8): Show a0001c0009 a0002c0002 a0003c0003 a0003c0006 a0003c0019 a0003c0040 a0003c0041 a0003c0042 a0005c0005 a0015c0039 a0016c0038	a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 others(8): Show a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0019t0001 a0003c0040t0001 a0003c0041t0001 a0003c0042t0001 a0005c0005t0002 a0015c0039t0001 a0016c0038t0002	a0001c0009t0001g0024 a0002c0002t0001g0230 a0003c0003t0001g0021 others(54): Show a0001c0009t0001g0024 a0002c0002t0001g0230 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0231 a0003c0003t0001g0234 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0240 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0247 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0264 a0003c0006t0001g0028 a0003c0006t0001g0029 a0003c0006t0001g0244 a0003c0006t0001g0245 a0003c0006t0001g0246 a0003c0006t0001g0248 a0003c0006t0001g0256 a0003c0019t0001g0235 a0003c0019t0001g0263 a0003c0040t0001g0239 a0003c0041t0001g0232 a0003c0042t0001g0233 a0005c0005t0002g0257 a0015c0039t0001g0241 a0016c0038t0002g0258	66	318	0.2075	-7	c.-20 others(20): Show c.-200+2_-200+8delCCTGCGG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15					chr20	TogoVar
DMAC2L_chr14_50307324_50332957	50314627	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	398	0.0025	0	c.-6+ others(4): Show c.-6+1G>T		DMAC2L	ENSG00000125375.18	transcript	ENST00000557421.7	protein_coding	2/5					chr14	TogoVar
DMAP1_chr1_44208471_44225673	44219457	GTCACGCT others(17): Show GTCACGCTGCGGAGCCAACGGGTAC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18994.hp1 NA18994.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0040 a0006c0006t0001g0040	1	406	0.0025	-24	c.959 others(33): Show c.959_978+4delTCACGCTGCGGAGCCAACGGGTAC	p.Val others(5): Show p.Val320fs	DMAP1	ENSG00000178028.14	transcript	ENST00000372289.7	protein_coding	7/10	1242/1742	959/1404	320/467		chr1	TogoVar
DMBT1_chr10_122555754_122648736	122593599	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02738.hp1 HG02738.hp1	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0002 a0011c0032t0002	a0011c0032t0002g0089 a0011c0032t0002g0089	1	280	0.0036	0	c.253 others(6): Show c.2530+1G>C		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	21/55					chr10	TogoVar
DMBT1_chr10_122555754_122648736	122610240	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0002 a0001c0048t0002	a0001c0048t0002g0167 a0001c0048t0002g0167	1	280	0.0036	0	c.444 others(6): Show c.4441+2T>C		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	35/55					chr10	TogoVar
DMTN_chr8_22051814_22087525	22080627	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01256.hp1 HG01256.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0210 a0005c0009t0001g0210	1	322	0.0031	0	c.957 others(5): Show c.957+2T>A		DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	13/15					chr8	TogoVar
DNA2_chr10_68409064_68476973	68471789	ACAGCTCC others(5): Show ACAGCTCCGCCGG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG04115.hp2 HG04115.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0318 a0009c0013t0001g0318	1	324	0.0031	-12	c.64_ others(19): Show c.64_74+1delCCGGCGGAGCTG	p.Pro others(4): Show p.Pro22fs	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	1/21		64/3183	22/1060		chr10	TogoVar
DNAH12_chr3_57288700_57549344	57485474	TACACCAC others(6439): Show TACACCACAACCTTCACCTCCAGGTTCAAGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGATTACAGGCGCGTGCCACCACGTCTGGCTAATTTTT GTATTTTGAGTAGAGATGGGGTTTCACATGTTGGCCAGGCTGGTCTTGAA CTCCTGACCTCGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGAATTA CAGGCATGAGCCACCGCACCCGGCTGGAGGCCATTATTCTAAGTGAAGTA ACTCAGGAATGGAAAACCAAATATCGTATATTCTCACTTATAAGTGGGAG CTAGGCTATGAGGATGCAAAAGAGTAATATAATGGACTTCGGGGACTCGG TGTGGGGAAGGCTGAGAGGCAGGTGAGGGGTAAAAGACTACATATTGGTA CAGTGTACACTACTTGAGTGATGGGTACACTAAAATCTCAGAAATCACCG CTAAATAACTTAACTGCTAGGCGTGGTGGCTCATGCCTGTAATCTCAGCA CTTTGGGAGGTCCAGGAGGGTAGATCACTTGAGGTCAGAAGTTCAAGACC AGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAATTAG CCAGGCATGGTGGCACATGCCTGCAGCCCCAGCTACCTGGGGGGCTGAGG AGATTCCAGGAGAATAGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGAC TCCATCTCAAAAAAAAAAAAAAGAATTTACCCATGTAACAAAACCACTTA TACCCCCCAAAACTATTGAAATTTTAAAAATTAAAATTAATTTTTTCTTT TAAAAAAATATCTAGCCCAGGCACAGAGGCTCACGCTTGTAAACCCAGTA CTTTGGGAGGCTGAGGTAGGAGGATCTCTTGAGCCCAGGAGGTTGAAATC AGCCTACGCAACATGGCAAAACCATGTCTCTATTAAATTTTTTTTAATTT TAAGTAAGAAATAGAAATCGGTATTGTCATTCTATTACTAGAAATATCAG GAAAAAACCATGTAAAAACAAAGTGTAAAAGAGGTAAATGATTTTTTAGT TCATGCAGGAATTTGGAGAAATATGTGGGAAATTATACTTGCTCATTCAC TCATTTAATAAATAGCTGAGTACCTACAATATGCTAAGGAAAATTCTAAA TATAGCAGCAAATGAGACCCTGCCCTCATAAAGCTTGTATTGAAGCTGAG GAAAGAGACAAAAGCACACAAATATGTACACTGTTAGGTAGCAAAAAAAA TGCTGAGGATCCCTTGAGCCCAGGAGTTCGAGGTGGAAGTGAGCTATAAT TGTGCTACTGCACTTCGGTCCGGGCAACATAGTAGGACCCTGTCTCTAAA GGAGAAAAAAAAGCTATGAAGAAAAATAAAGCAACATAAAAGGAAAAAGA ATGATGGAGTGTCAAGAAGAAGCCACTATTTTATACAGAGGGGCCAGAGA AGGCCTTTCTAGGGAGGTAATATTCAAGGTGAGGGGAAAAAACAAATGAG TTGTTCAAATACCAGGAAAAGAGATTCCAGGAAGAAAAACCAGCAAGGAC AACGGCCATAAAGTGGTAATAAGCTTGGCATACTTTAGGAATGGCAAACG AAGTTGAAGTGGTGAGCAGGAATCAGATCATGTAGGACTTTACAGTTAAT TATTGAATATCAGAAATACAGGAGGAATGTGGCCAGGCACAGTGGCCCAC ACCTGTAATCCCAACACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGT CCAGGAGTTTGAGACCAGCCTAGGCAACATGGCAAGACCTTGTCTCTAAT AGAAAAGAAGGAAGAAAGGAAGGAAGGAAGGAAGGGAGAGAGAGAGAGAA AGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAAAGAAAGAGAAAGAAAG AAAAAAAAAAAGAAAGAGAAAGAAAGAAAGAAAAAAAAGAAAAAGAAAGA AAAAAAAGAAAGAGCAAGCATTAATGTGGATAATGCAAAAAGACAGATAA TCCTCCTGGGGATCATCTTGCTAGTGCAGAATCTGAGTCCTTTGGGCAGA GATACTTCAGCAAAAGAAAAGGAGGCAAACAAAATGATGAGAGCAAGATG GCCCAAGCAGATGCTAAACCAAACGGTGAAGTAAGCAAATTGCTCTTCAG TGACCTTGTACTTAACCTAGGGGCACACATTTCCTCCTTTTGATGTTATC TAAAGTACAGAATTGAAACAGGAGGAATCAAAGAATAAACTAGGTGAAGG AAACTGGATAAATTTTCAGCTGCTTTTATATCATAGCTTTATAATAAGAT AATTATTTTGTGAAAAGTATGGAATTTTCCAGAAAAATCACAGATACTAC AAAAATAAATACAAAAAAATTATGTTAAACATAAACTTATAAAGTGTTTT TTTTTTGTTTTTTGTTTTTTGGTTTTTTTTAACTAACTATGGCATTGTCA TTGTTGTTACTCATCAGGATGGTTACAACTCTCAAGAAAGGGAAAGGTTC TAATACTTTACCCTCTTTGATATCTTCTCGTGTAGTATACTTTTATACAG AATATGCCTGATAAATTTGACTTCTGACTGTCATATATTTGCTTATTCAA TTTAAGATATTTATTGGGCTCCTATTCTATGCCAAGCAAGGCACTAGATA TTTTACAAATGTTATCTGTGATCCTAATATTAGTCCTGCGAGGAAGGTAC TCTTTTTCTTTTTGTTTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTC GCACTGTAGCCCGGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAA CCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAGTAG CTGGGGTTACAGGCACCTGCCACCACACCCAGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGA CCTCGTGATTCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACCGTGCCTGCCTGGAAGGTACTATTTTTCATAGTTGACACAGTA GAAAACTGAGGCTCAGGAAAATTAAGTAGGTTGCCCAGAGTTATGGAACT AGTTAATGGCAATCAGTATTCAAATTCATGTCTTTCTGATTCCAAAGCAT GCAATTTTTTCACTTTGCTTCCGGGAAAATAAACATAATAGTTAACATTT ATTGAGTACCATGTGCCAGGCAGTGTGCTAGGTGCTATACATACATTAGT TTTCATCTTTACAGAAGTTACAAGCTTTTTTGGGGACACACAGATAACAA ATGAGTTCAATAAATTGGATGATGAATTGGTTGAGCACTGGGTGAACAAA CCACAGGACATATTCCCTCTCTAAAAGGCAAAGTTGCTTCTTAGCTCCAT TTACCACAGCAGGCCCGATGTGGCATGGTCTTCCCACTTTTTCAAGAAAG GTAAGAAATCCAAAGTGTGTGTGTGTGTGTGTGTGTGCACGTGCGTGTGT GTACTAATTTTAAAATGATGGTAGCAAGTCCAAAATCTGTTTAAACAAAA TAAAACACAGTGTGAAACAAGCAAAACACATCTACATGACACACTCAAGT AGCAGGCCACTAGTTTATGAATCCAATTTTATAGCCACCCTGAAAAGTAG GTATTACTGTCTCCATTTTACAGATGAGAAAAATAAGCTCGGTGATACAA TAAGTAAATATTGAGGTCAGGGATGATCCCAGATCTGCCCAATATCACCA AAAGTCTACAATCTTATCATTATCATGTAACCTGTACCTGAATCTGGTTT ATTTCCATTTCTTTTTTAAAAAAATCCTGGGTTGCATTTAAAAAGGTATC AAACAGTATCAAACAAAAAGAATCCAGCCCAATGGGACTACAAAGGCACC TCTATAGGAGGCAGCTATGGAGAAAAAGTTGTACGTACTTACATATTTTA AGCTTTTGTTTTTAAACAAGAGTTACTTTAGCAAAATACTTCTTTTAGCC ATATAATTCTGAGCTTGGGAATTAATTCTACTTACCATTCATTTTCTTTT CTATATTTTGAAGCTATGTCATTTAATAATATGTTTGCAAAGGCTTTTGC TTTATTTGTCAGGCCTGTCTTCAAATCTTCACAATCCAAACGCACCATAG TGTAATGAATCCACTGAGGCAAAAGCATTATTTCTGAGGCAAGACTGAGA AATTTTTCTATAAACTTGAAAAAAAGTGTTCAAATGAAAAAAAAAATGTT TAGAACTTTCAGTGATTTTATAATATTGTATTGTTATGAAAGTCCTAATT ATATAAATACAACTTTATTTCTTTTTTGCTAAGTGACTAAAATTTTTTCC CTTGTTGCATACATATTTTTTTCACCTATTCTTTCATTAAGGAATTTGTC AATATACCAGTAAATATCCAATACGATACCATTCACAGTATCAAAATCTG AACATATCACACGGTAAAATTTCCCTCAATAATTATTTTTTAAAATTATC CCCAGAGTCAACCCATTTCTCTGTTTAGAAACAAACTTATATCATGTAAC AATTTGCATAGTGGATAAATATTTGCTTTTGCCATTACTGATAGCTCATT AAAGATTCTATTTTTTTCACTTTACGTCCACATGGTCAAGGATTCTAATT CAACCTTTAGGAAAAATACATATATATAAGGAACTTATTGGTTTTTGTCA AAATACTCCAAGCCAGGCATGATGGTTTGAGCCTATAATCCCAGCTACTG TTAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAGGCTGC AGTCAGCTATGATGGCACCCTGCATTCCAGGCTGGGTGACAGGGTAAGAC TCTATCTGTTAAAAATATAATGATAATAATCCAGGAACAGATGCTCTGCA ATTACCAAGATCCAAGATATTGGAATGTATGTCAACTTCTTAGTGCCCAA ACACTGGGGTAATTTTTTAAAATTAAACAAAGTAGTATCAAGAAAATCTG ACAGGATATGTGATACTTGGTAAAAGTGAAACACACTTACCAACTTTGGA CAAACTTTGACTTAATTTCACAATCCACCTTTAATGTTTCTATCTGCCTT CCTTCTCACTTGATCTCCACTCTCTACTGAAATGGCCTGTTCCTTTTATT CTTCCTTCAGGAGAACTTTCCTTCATGTTACTCTCTCTCAATGCTGTCCT ATTTTTCTAGAGTATCTAGGATGTGGTGAATTGGGTTTAAATTTTTCAGT GTTCAAGGGGGAAGATAATAATTAATTGATTCAAAGACTATCTTAAGCAC CTGCCTTGTTCTTGGTTGGAAATACACCAAATAGGCCAGGCGTGGTGGCT CACGCCTGTAATCCCAGCACTGTGGGAAGCCGAGGCGGGTGGACCACCTG AGGGCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCT ACTAAAACTACAAAAATTAGCTGAGTGTGGTGGCACATGCCTGTAATGCC AGCTACTCAAGAGGCTGAGAATCGCTTGAACCTGAGAGGTAGAGATTGCA GTGAGCCGAGGTCACACCACTGCACTCCAGCCTGGAAGACAGAGCGAGAC TCTATCTCAAAAAAAAAAAAAAAAAAAACAACAAATAAAGGGTAGACAGA ACTCATGGCATTGAAAAAAGATGAATATGGATAAATTTTACCATGATGAA AGAAGAAAAACACAAAAGAATATATACAGTATGATACCTTTCATACAAAC TTACCGTGGACAAAACTAAACTATATTATTTAAGTATACACACATAGGTG GTAAAACCATAAAGGAAAGCAAGAAATGTCAGGGTAATAGTTACCAATAA AGACAGAAGAAAGTTATAATTGGGGAGAGGCACGTGGTGGCTTCTGGGTT TTGCAAAGTTCTCTTTCTTAAGCTACATGGTTATTAACACCTAGGTTATA ATTACCTATCGGTCTATACATATGTACTATGTATGTTATATTTCACAATT ACATTAAATTTTTTCATGGAACATTTTAAACATACAAAAATAGGTAAAAT GTACCCATTATCCAGTTTCAACAATTAGCAACTCATGACCAATCTTTTTT TAACTATACTCCTAACTACTCCCCTGTCCTGTTTTATTTTTACACAAATC ACAAGCATCTTATAAATTCATCTGTATAAGCCAGGCATGATGGCTCATGC CTGTAAACCCCCAGCACTTTGGGAGACTGAGACAGGAGGATTGCTTGAAG CCAGGAGTTCAAGATCAGCCTGAGCAACATAGGGAAACCCCCATCTCTAC AAAAAAAAATAATAATTTTTTTAAAATTAGCCAGCCAGCTTGGGCAACAT GGTGAAACCCTATCTCTACAAAAAATACAAAAATTAGCCAGGTGTTGTGG CGTGTGCCTGTAGTCTCAGCTATTCAGAAGGCTGAGGTGGGAGGAAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02257.hp1 HG02257.hp1	a0042 a0042	a0042c0040 a0042c0040	a0042c0040t0001 a0042c0040t0001	a0042c0040t0001g0014 a0042c0040t0001g0014	1	264	0.0038	-6446	c.133 others(19): Show c.1336-2233_1515-1964del		DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	12/74					chr3	TogoVar
DNAH14_chr1_224924675_225404286	224967584	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02132.hp2 NA19056.hp2 HG02132.hp2 NA19056.hp2	a0029 a0029	a0029c0031 a0029c0031	a0029c0031t0001 a0029c0031t0001	a0029c0031t0001g0236 a0029c0031t0001g0237 a0029c0031t0001g0236 a0029c0031t0001g0237	2	238	0.0084	0	c.651 others(5): Show c.651+1G>A		DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	6/85					chr1	TogoVar
DNAH17_chr17_78418697_78582396	78434017	ACAGCCCC others(121): Show ACAGCCCCTCACCTTGGGGTTGGCCTCCAGGTAGTTGTAGAGCACGTTGA TGGAGATGGTGAGGTCCCCGTTGTTGAAGGGGTACGACCGGTTCCAGCCC TGGGCGCCGAACTTGCGCCTCTCTGCCAC	A A	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02976.hp2 HG02976.hp2	a0093 a0093	a0093c0019 a0093c0019	a0093c0019t0001 a0093c0019t0001	a0093c0019t0001g0127 a0093c0019t0001g0127	1	250	0.0040	-128	c.121 others(14): Show c.12109_12225+11del	p.Val others(15): Show p.Val4037_Lys4075del	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/81		12109/13389	4037/4462		chr17	TogoVar
DNAH8_chr6_38710311_39035792	38770561	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01255.hp2 HG01891.hp1 HG02559.hp1 others(6): Show HG01255.hp2 HG01891.hp1 HG02559.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG03098.hp1 NA19030.hp2 NA19043.hp1	a0009 a0012 a0015 others(4): Show a0009 a0012 a0015 a0016 a0044 a0051 a0055	a0009c0127 a0012c0126 a0015c0044 others(5): Show a0009c0127 a0012c0126 a0015c0044 a0015c0123 a0016c0125 a0044c0122 a0051c0128 a0055c0124	a0009c0127t0001 a0012c0126t0001 a0015c0044t0001 others(5): Show a0009c0127t0001 a0012c0126t0001 a0015c0044t0001 a0015c0123t0001 a0016c0125t0001 a0044c0122t0001 a0051c0128t0001 a0055c0124t0001	a0009c0127t0001g0146 a0012c0126t0001g0222 a0015c0044t0001g0021 others(6): Show a0009c0127t0001g0146 a0012c0126t0001g0222 a0015c0044t0001g0021 a0015c0044t0001g0268 a0015c0123t0001g0023 a0016c0125t0001g0255 a0044c0122t0001g0224 a0051c0128t0001g0264 a0055c0124t0001g0145	9	284	0.0317	0	c.176 others(6): Show c.1764+2T>C		DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	12/92					chr6	TogoVar
DNAJA4_chr15_78259562_78287191	78264896	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0064 a0001c0001t0005g0064	1	440	0.0023	0	c.132 others(5): Show c.132+1G>A		DNAJA4	ENSG00000140403.13	transcript	ENST00000394852.8	protein_coding	1/6					chr15	TogoVar
DOCK1_chr10_126900428_127457516	127418543	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01192.hp1 HG03579.hp2 HG01192.hp1 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0054 a0001c0006 a0001c0054	a0001c0006t0001 a0001c0054t0011 a0001c0006t0001 a0001c0054t0011	a0001c0006t0001g0041 a0001c0054t0011g0024 a0001c0006t0001g0041 a0001c0054t0011g0024	2	134	0.0149	0	c.469 others(6): Show c.4692+2T>C		DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	45/51					chr10	TogoVar
DTNBP1_chr6_15517807_15668028	15533238	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01255.hp1 HG02055.hp2 HG02280.hp2 others(8): Show HG01255.hp1 HG02055.hp2 HG02280.hp2 HG02572.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03579.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005	a0001c0001t0003g0291 a0002c0002t0001g0258 a0002c0002t0001g0259 others(8): Show a0001c0001t0003g0291 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0296 a0002c0002t0003g0297 a0002c0002t0005g0261 a0002c0002t0005g0262	11	312	0.0353	0	c.667 others(5): Show c.667+2C>T		DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	8/9					chr6	TogoVar
DYNC2H1_chr11_103104426_103484863	103303254	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	260	0.0038	0	c.112 others(7): Show c.11256+1G>T		DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	76/88					chr11	TogoVar
DYNLT4_chr1_44800893_44812351	44806783	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	390	0.0026	0	c.-12 others(5): Show c.-12+1G>A		DYNLT4	ENSG00000188396.4	transcript	ENST00000339355.3	protein_coding	2/2					chr1	TogoVar
DYNLT5_chr1_66747459_66784047	66776404	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG01070.hp2 HG01168.hp1 HG01517.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 NA18948.hp1 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp2 NA19012.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0010 a0003c0003t0021 a0003c0003t0002 a0003c0003t0010 a0003c0003t0021	a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 others(29): Show a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0037 a0003c0003t0002g0040 a0003c0003t0002g0043 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0100 a0003c0003t0002g0101 a0003c0003t0002g0108 a0003c0003t0002g0112 a0003c0003t0002g0123 a0003c0003t0002g0131 a0003c0003t0002g0160 a0003c0003t0002g0163 a0003c0003t0010g0008 a0003c0003t0010g0096 a0003c0003t0021g0095	55	400	0.1375	0	c.336 others(5): Show c.336+1G>A		DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding	4/4					chr1	TogoVar
DZIP1_chr13_95573202_95649706	95644375	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0011 a0001c0001t0038g0011	1	380	0.0026	0	c.-52 others(6): Show c.-526+2T>A		DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	1/22					chr13	TogoVar
E2F2_chr1_23501438_23536233	23530541	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0052 a0002c0002t0016g0052	1	394	0.0025	0	c.252 others(5): Show c.252+1G>T		E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding	1/6					chr1	TogoVar
ECEL1_chr2_232474827_232492834	232487718	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	436	0.0023	0	c.-10 others(6): Show c.-102+1G>C		ECEL1	ENSG00000171551.12	transcript	ENST00000304546.6	protein_coding	1/17					chr2	TogoVar
ECT2L_chr6_138791087_138909070	138882871	GGTAAATG others(7): Show GGTAAATGAGTTTCA	G G	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00558.hp2 HG00621.hp1 HG03710.hp1 others(4): Show HG00558.hp2 HG00621.hp1 HG03710.hp1 NA18980.hp1 NA18983.hp2 NA19011.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0109 a0001c0001t0001g0162 a0001c0001t0001g0165 others(4): Show a0001c0001t0001g0109 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0266 a0001c0001t0001g0293 a0001c0001t0004g0144 a0001c0001t0006g0256	7	324	0.0216	-14	c.202 others(28): Show c.2028+1_2028+14delGTAAATGAGTTTCA		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	16/21					chr6	TogoVar
EDDM13_chr19_56267748_56315454	56282492	GCTGAAAG others(294): Show GCTGAAAGGTAAGCTTCTCATTCCATCTCTTTCCCTTTGGGGTCTGTTTG CCTTTGTCCAAAAGGGATCATTGCTGCTGAACTTCGACTTACGTTTCTTC TCTGGTCTGTTCACAGCTTAGCTTCTAATAGCGGAACTAGTAAAACCAAG TGTGGAATTGTCCTTTGATGAACAACAACAACAACAAAAGCCCTTTTACT TGTCTCCCCTCAAAGCCACTTGTCCAGAAACTGAGCACTCTTTCATGGTC CGCACATGGCTCAAGGAAAGCTATTAGGTCTGAGAGCTCAATTCAGGTCT AC	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18956.hp2 NA18956.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0277 a0004c0008t0001g0277	1	394	0.0025	-301	c.116 others(11): Show c.116_118+298del	p.Lys others(17): Show p.Lys39_Gly40delinsArg	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	4/15	203/879	116/486	39/161	INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56290059	GTGGTTTC others(4278): Show GTGGTTTCCCCAAACTGGCTAATTATCTGAAACTTTTTCAAAAAGACAGA TTTCTTTGTTCTACCTGGACCTTCTGCATGAGAATACCAAGGGGTGGGTC CCAGGAATCTGTCCTTTCAAAAGGTTTCTCAGGTGCTTCTGATGGTTTGG CTCAGATGGTTTGAGAACTACTGAGATAAAGTAGGACTCAGCAGAAAGGC CCACTGCTTGTTTTTATAAATAAAGTTTTACTGACACACAATCACACCCA TTCATTTAGGTATTATTTGTAGTTGTCTTTGTGCTCTAATGGCAGAGCTG CATAGTTGTGACTGGGGCCATGTGGCCTGCAAAGCCTACACTATTTACTG TCTGACCCTTTAGAGGTCAGACATTTATTGACCTCTGAGCTAGAGCAGTG CTTCTCAGGGTCTTTGTTTAAAATTAGGGCCTAGGACCCTACTTCATATC TAAAGAAGGAGGATGTCTGTGATGGAACTCTAAGCTCTTGAGTTTGCTTC CCAAATGGTGATTCTTTGGGTTGGACACGGTGGCTCATGCCTATAATCCC AGCACTTTGGGAGGCTGTGGTGGGAGGAAGGCTTGAGCCCAGGAGTTTAA GATCAGCCTGGGCAACATAGGAAGACCCCCTTCTCTATGAAATATAAATA CATAAACAGTTTAAAATAGTTTTACGATATTGAATGGAGGAATAATTGAA TGTCCTATACTGCTGATTCTATTCTCTTGCTCACTCTTCTCCACACTGAC TCCCCGAATGCTGGTTCTGCTACTTCCTCCAGTAAAAAGTAAGTTATTTT TCCTTTCCTATGGGTCACTTGGAAGTTTTCAGGTGCTGGGAAGAAGAGGC AACTATCCAAAGAAGGGAATCTTTGGATAGTTCTTCTCAATGTAGAACAC AAGTTGAGAGGGACCCTCCATCTGCTGCTCCCCTCTCTGAAGGGGTTTCA GGGTGGGCTGCAAGCCCCAGATTGTGTGGAGAGCCGTGAGGGTGTGTCTG GGATACGGTGGGTCTGGGGCTACATGCAGGACTGAGTATGTGAGCCCTTG GCATATCACGTCCCCGAGCTCACAGGACCGTTGCCCCAGAAGACAAGAAA GCATTGAGTTGTACATATTTGTTGGGAGGGCCATTGAGAAGAGAACCAAA GAGGGGCACCTTGCTCCTTCCTCAAGCTCCCTCCTGACCCTCGGGGGAGA AATGAGAGAGAACCCTGGAGACTCAAAGGGATGCTCTAGTATCTTCCTAA TCTCTGGAAGATGAATCCCCACGGAAACTGAATACCTGGGGCTTCTGTCC ACCTGGATTAATGCGTCTCTAAAGGAGTAAAGTCTCAAAGAAGCATCTCG AGTCACCCACCCTGGGCCCCAGCCTATCGCATTAATCTGGAAGACACTTT ATTTCTCTTTTTTGGGAAGATCTGTTTTGAGAACCACAGGGTGGGAGGAG CTAGGAAGAAGGCGTTATTAATTTCTTCCTTTTCCTCTCCTCTCCTTCCT TCCTTCCTCCACTGCTGCCCAACAATGCCCACTGGATCTTCTGCTCCTGG CATCTCATCTCAACAGCACTGAAACCTAAGAGTCTTGTTTCACATTTGAC CCCTTCTGTTTTGCTCCTGTTCTCATCTCTGCCAAGGGAGGTCCACTCTT AGCCATGGATCAACTCTCAGCTTTTGACCATCTTTTTTTTTTAAACTCAA GAACTGGGAAAAAATAGCTATATTACCATCATCTTCAAATAGATGGGATG TCTCATGGAAACCAATCCCTCCTCGAATCAGGCATTCATGTAATGCCATG ATGAGGATGGTGATGACAGTGATGGAAATTTACAAAGAGCTTTCTAGGTG CCAGGCGCGAGGCACCAGAGCAGCACTTTTCAATGTGTTATGTGTAGTTA TTCCCCACAACTTCTTCACAAGGCAAGTATTATTCATCTGCACTTGACTG AGGTATAAAGGTTAGGTAACTAGATCAAGACTGGGCATCCCAGTGGTGAC GGTGGGTTACGGATCCTGGGCTGCGTGACTCAGCTGCTTAACCACGGTGC TGTGCTTCCTCCCACTGCTGTGTGGCTCAGACTTATTTTCCCCAAGAACA TCTCTGACCATTTCATCATGCTGTTCCCTGAAAAAGTCACTGTTTGCCAC ATGTGGGTAACATACATCTTTTAAAAAGTCTTGAAATTGTAGTAAAATAT ACAAAACATGAAATTTACCATTGTAACTTGTTTTCATTTTTTAGAGACAG GATCTTGCTCTGTTGTCCAGGCTGGAGCACAGTGGTGCAGACCTCCTGGG CTCAAGCGATCCTTCTTTCTTAGCCTCCTGAGGAACTGGGACTACAGGTG TGCATCATCACACCTAGCTAATTATTTTTGGTTTTTTTGTCTGTTTTTAC TTTTTTTTTTTTTACTTTTTTGTTTTGCTTTGTTGCCAAGGCTGGTCTTC AATTCCGGGGCTCAAGCAATCCTCCTACCTCAGCCTCCCAAAGCACTGGG ATCACAGGCACGAGCCACTGCACCCACCTTAACCACTTTAAAGTGTGCGA TTTAGTGGCCCTTGGTACACACACAATGGTGTGCAACCATCACCACTGAC TCCAGAACTTTATAATCACTGCCCCACCAAAAAAAAAGTACCCATTAAAC AGTCAGTCCCCATTCTCCCTCTGACCTCAGCCCCGGCAACCACCATTTCA CTTTCTGTCTCTGCAAGTTTGAGGATTCTAGGTACCTCATAGAAGTAGAA TCGTACACGATGTGGTCTTTTGTGTCTGGCTTCATCACTCAGCACAGTGT CCTCAAGGTTCAGCCACATTGTGGCCTGTGACAGTGCTTCACTCCTTTTC ATGGCTGAGCAATACTCCATTGCATGGATAGACTGCATTTTTTAATCCAA TCATCCACTGATTGAATTTTGGGTTGATTCTACCTTTCGGCTGAGGACAC ACTCTTCTTTTGGTCCACATTCAAAGCCATCTAAACCCCAGTTCTGAGAC ACCATCCTGTCCATGCCCCACACCCACCTCCAAACCCCACTTCTATGCAG CTTGAGCCTCAGTGAAACCCAAGACATCCTGATCTGAAAAAACAAATTGA AAAATGGTATCCTGCAGCTCAAGAGCACGTTCTGGGTACCAGGCATGGTT GTTAAGTGCTTGACTCATGACAGTCCCCAAGTCATCGTCCTTGTTTTACA ACTGAAAACACTGTGGTAAGAGAGGGAGAGTCGCTTGCTCATGGTCACAC AGCCAGTCAGGTGCAGAGAATAACTTAAGCCCAGTCTGGATCCCAAACGG TGCTATTAAACAATGCAAACTCAAAAGTGTTCAAAGCGGCTCAGACTAAC GAGGTCCCTGCCTCATCCCTACACTGGAAGTATTATCATTATAATTGTAT GTTGTATATATTGTAAGGAAGATAAAATTATGCTAAGAAAGGGAAAGAGG AACTGGCAGAGAGTGTGCACTGTGGGCGCCGGTCCTGACTGCACCACTTT CTAGTTCCGTGGGCTTCGGACCCTCGCCTCCTGAAGGGCTCAGGCCCCTG GTCGGTACAATGCACATAATAGTTCCAGCCTCATATGGTTGTGAGGAGTA AACAGGATCATGCACTTGGCAGGATGATTCCCAATTGGGGAGATTTCGCC CCTCAGGGGACACCTGGCAATGCCTAGAGATATTTTTGGTTGTGAGGACT CAGGGAGGTGGTAGGGGAGGCTAACGGCATCTAATGGGGGGAGTCTCGAG ATGTTGCTACACATCCTACAATGCACAGGACACCCCACCCCCACAACAAA AAAACTATCCAGCCCCAAATGTCACTCGTCTGGAGGTTGAGAAACCCCCC GCTGAATAAAATGTCTGGCACGGGATAAGAGCTCAGCAAGGGTCTGTGAG GACCACCTCATTTACCTTTGTTCTGAACACTCCCATGTCTGCAGGAGGCC CCTCTGCCTTGCTCCTTTCGCTCCTTTTCCCAGGCCCTTCTCCAGCCTCC GTCCTCATGCTGCACTGACAGCACTTTGCAAACTGAAAGCAGACCCAGCA GGAAAATCCCAAACACCTGCCTAAGGGCCCACCAGGTGCCAAGCAGACCC AGCCCTGCTCCAGTAACGAGCAAAAGCCAAACCCAGCAGGAAAATCCCAA ACACCTGCCTAAGGGCCCACCAGGTGCCAAGCTCTGTACTGGGCGATTCA CGTGGGCTCTTTCTCCCGGACCCTCACATTAACCCAGGATGCAAGTGGTT CGGTGGAGACAGCCTGAGTTTTAAGGCAAAGAGGCC	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19004.hp2 NA19004.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0105 a0006c0006t0001g0105	1	394	0.0025	-4285	c.227 others(16): Show c.227-778_233-1612del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	9/15				INFO_REALIGN_3_PRIME	chr19	TogoVar
EFCAB2_chr1_244964682_245092837	244970444	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19077.hp2 NA19081.hp1 NA19077.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0116 a0001c0002t0002g0117	2	288	0.0069	0	c.25+ others(4): Show c.25+1G>A		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7					chr1	TogoVar
EFCAB3_chr17_62375553_62421480	62395190	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18522.hp1 NA18906.hp1 NA19240.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107	3	368	0.0082	0	c.488 others(5): Show c.488+2T>C		EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	6/9					chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29941839	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	246	0.0041	0	c.42+ others(4): Show c.42+1G>A		EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	1/22					chr17	TogoVar
EFCC1_chr3_128996304_129045742	129037119	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	352	0.0028	0	c.159 others(6): Show c.1593+2T>C		EFCC1	ENSG00000114654.8	transcript	ENST00000683648.1	protein_coding	6/7					chr3	TogoVar
EIF4EBP2_chr10_70399145_70433618	70404547	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	420	0.0024	0	c.145 others(5): Show c.145+1G>A		EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2					chr10	TogoVar
ELMO2_chr20_46361050_46411615	46375666	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	310	0.0032	0	c.930 others(5): Show c.930+2T>C		ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	12/21					chr20	TogoVar
ELN_chr7_74023173_74074907	74053290	CCCAGGTG others(8): Show CCCAGGTGCTGCGGTT	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19012.hp1 NA19012.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0061 a0016c0014t0001g0061	1	366	0.0027	-15	c.108 others(26): Show c.1085_1096+3delCTGCGGTTCCAGGTG	p.Ala others(13): Show p.Ala362_Pro365del	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	18/33	1100/3397	1085/2175	362/724	INFO_REALIGN_3_PRIME	chr7	TogoVar

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