Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0013	a0001c0008t0013g0207 a0001c0008t0013g0207	1	15	0.0667	36	c.623 others(47): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0222 a0001c0001t0005g0222	1	15	0.0667	37	c.623 others(48): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0208 a0001c0001t0065g0208	1	15	0.0667	38	c.623 others(49): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42219228	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	314	0.0032	0	c.321 others(6): Show c.3214-2A>G		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	26/29					chr13	TogoVar
DHCR7_chr11_71429411_71453393	71435840	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	408	0.0025	0	c.964 others(5): Show c.964-1G>C		DHCR7	ENSG00000172893.18	transcript	ENST00000355527.8	protein_coding	8/8					chr11	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
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	384	0.2891	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DHRS4_chr14_23948770_23974279	23967493	CTCTGGGA others(6779): Show CTCTGGGAGAAGCCCTGAGTCCTCTCTCCACCTGGGGGATTGCCTCCACC TCTGAGCATCCATGGAGACCAGGGACCATAACCAAAACCATGCTTTGTTA GTCCCCTTGAATAATGACACATGTTTACAAAACTCAGGTTGATGATCTAC AATCCAAATGAAAAGAATGAAGAGTTTTACTAAGCCCCAAACTCCCCTTG CCTAAGGAGTTACTTTCTTCCCCAGTGAGCTGGGTGAACTGTTCAAGCAC CTTTGTCGGGCTCCCTTTCCTCTAAGTTCCCTGCCTCTCTCTACCTTCTG GCTTCAAGGACAAATGCCAGTAATGCCTAACTCTGTACTCGTCCAGACAT CCCAAATCTTCCCAAAGCCATTCTGATGTGAGACATGAGCTGCAGGCCTG GTTCATAACTCATTAATAAGTGAGGGGATTGTCAACCTAGAGCACCAATG AATGATCTAGCCCATGTAGCTCAATACTGGATTCACATTAGAATCACCTG GGGAGCTTTTTAAACTGCAGGTGCTCAGGCCCCACCCACTCCCAGAGATT CTTTTTAATTGGTCCAAGGTAGGACTTGACCATCTGGGCTTTTGTTTTTC TTTGTCTTTTCTTTTCTTTTCTTTTTTGGTTTAAGCCTCTCAAATGATTG CAAGATACAAGTAGAATGGAGAAGCATTAATTCAGCCCTTCTAGGTTTGA GTTACTCACTCTGCCCACCTCTAGAGCATTCTATGGCAGGGAGATTAAAG TGTCTCCTAACTATGCAGTCACTGATAAAATAAGAATTAGCACATTCTCA CTAAATGAACCTGACTTTAAGGCACAAGTATAGATTCCTGAAAAAGTTCT AAGCTGAACCTGTACAAATGGAATCATTTTAAACACACCATTTACTGTCA CACAGACTCCCTGATACTTTAGTGTGTGCACATGTGAAACCATTTTTTTG AAGTATGAAATAATTGCTCACCATTTTATCTATATAACTTTGGATTTTGG TGTCCTGAGCTCTCTAAAAACCGGTGTGTTTCTATAGTATTTGAATATTA TGGGTAATAGTTTTGCAGAGTACAGTATGCTTATACTAAATTATAACAGC ATATCCTCGTGGTAACCCTATTTGATAGGCAGAAAGCTTGTACACTGACC CTGAAAAAGCCATCTGATAATTCTTGATTAAGCAAATTTAACTCCCTGTG TCCCAGGTGAGGGAGGCAGAACTGTTTGATTTTTACCTCCTTCCTTGCTT CCCTTATTCCCCAGGTTAGGCGAGCCAGAGGATTGTGCTGGCATCGTGTC TTTCCTGTGCTCTGAAGATGCCAGCTACATCACTGGGGAAACAGTGGTGG TGGGTGGAGGAACCCCGTCCCGCCTCTGAGGACCGGGAGACAGCCCACAG GCCAGAGTTGGGCTCTAGCTCCTGGTGCTGTTCCCGCATTCACCCACTGG CCTTTCCCACCTCTGCTCACCTTACTGTTCACCTCATCAAATCAGTTCTG CCCTGTGAAAAGATCCAGCCTTCCCTGCCGTCAAGGTGGCGTCTTACTCG GGATTTCTGCTGTTGTTGTGGCCTTGGGTAAAGGCCTCCCCTGAGAACAC AGGACAGGCCTGCTGACAAGGCTGAGTCTACCTTGGCAAAGACCAAGATA TTTTTTCCCGGGCCACTGGGGAATCTGAGGGGTGATGGGAGAGAAGGAAC CTGGAGTGGAAGGAGCAGAGTTGCAAATTAACAACTTGCAAATGAGGTGC AAATAAAATGCAGATGATTGCGCGGCTTTGAATCCAATTGACCTGTTCAT TTCTCAGTGTTGGGTGCTTAGCTGAGCAGAGAGCAGAAGTCTATTCAGGC TGGATCTCTGGATCCCCCAGCCCTCCTCCCTGTCTCCAGAACTTGAGCGT GATGTTCACGGGTGGAGGTGTCTGCAGAGCTGCCAGCTGGAAGGAAGGTG GCACGGGAACTCCCAGGACGCCACGGGAATCCCCGAGGCAGCGCGAGCCC GGAGAGAGTGGGGAAGGATGAACTCTCTAACACCTCCCCGCCCCTTGCCT CCCAGATCAGGCCAGGTCCTCTCCCCGCATGGCCCTACGACCCGAGTTCC CTCCCGAGTCAGCAAGTACAAGCTGGATGGGTCCTGAGCCGGTGGGGAAT AGAGAAAGGCCCTGCAAGGTACCCAGGCCCACAAACAAAAGCAATGGGTT CTGCCCACGGGCCCGAGGATTCAGTAGAAGGAAAGTGGGGACGCTGTCCC CCGCCCCAAAGGCACTGACACTGGGCGACACACGCTGAGCCTCTCACGCC GACGGGCCTCTCACGCCGGAGCCGGCAAGAAAGGTCGGCGCCAGCCCGCG GGCTCTCAGGAGGCTCGGCAGCGCGACGCGCATGCTCAGTCGGGCAGCTC TCCGGGCCGGCGTGGGAGCCCGCGCTCCAAGGCCCGGTGGGGGGAGGGGC GCTCACGCAACCGCCACTGTCTGGAGCGGGCTCGCCTCTGCGGCAGCCCT CACCGCCCGGGCTTTACTGAAGCGGAGTCTAGCATGTGCGGCTGCTCCAC AGCGGTGTGGGTGGCGGCGGCTCCTCTGCAGCAGCCTCGGCAGTAGGGGT CAGGGTGGCCAAGCCCACCGTGGAGCTCATCTGAGAGTTGTAAGGTACGG GACTGCCTCGGTCTTTGGGACGCCCCGTCTGGTAGCATCCCAGATCCAGC ACGTTCCTTCCGGCCCTGCACCCCGGCCCGGTGCCTCACACCCCGCTACC CCAAGCATCCAGACTCTAAGGCAGCCCCTGCATCTCAGTCCTGACATCGC TGTCCCTGGAGCATCCTCCGCTGGAGCTGGAGCTTGACAGGTAGGGTGGA GAGGGCGGTGGGGGGCGGGGGGCCGAAACTGCATCAGTTAACGGGGCCGT GGGGGAGGGAAGTCCTCCATTGCTAAGGCTTCAGTAGGCGTTCTATGATC ACAGTGTAAACAAAGCTGCAGGGAAGCTCTAACTGGGCGGAACCCACCGC AGCTCAGCAAGGCCTACTGCCTCTCCAGATTCCACCTCAGGGGCCAGGGC ATATCTGAACAAAAGGCAGCGGACAGCTTCTGCAGACTTCAGTGTCCTTG CCTGACATCTCTAAAGACAGCAGTGGTTCTCCCAGCACGGAGTTCGTGCT CCGATAACGGACAGACTGCCTCCCCGAGTGGGTCCCTGACCCCCATGTAG CTTGACTGAAAAACACCGACCAGTAGGGGCGGAGAGACACCTCATACAGG TGGGTGCCCCTGTGGAACAAAGCTTCCAGAAGAAGGATCAGGCAGCAATA TTTGCTGTTCTGCAGCCTCCTCTACTGATACCCAAGAAAATAAGGTCTGG AATGGACTTCCAGCAAACCCCCAAAGACCTGCAGCTGAGGGGCCTGTTAG AAGGAAAACTAACAAACAGAAAGGAATAGCATCAACATCAGCAAAGGACA GCATCAACATCAGAATAGCAAAGGACATCCACACTAAAACCCCATCCATA GGTCACCAACATCAAAGACCAAAGGTAGATAAAACCACAAAGATGGAGAG AAACCAGAGCAGAAATGCTGAAACTTCCAGAAACCAGAACGTCTCTTCTC TTCCAAAGGAATACAAGTCCTCACCAGCAAGGGAACAAAACTGGATGGAG AATAAGTTTGATAACTTGACAGAAGTTAAGCTTCAGAAGGTCAGTAATAA CAAACTACTCCCAGCTAAAGGAACATGTTCTAACCCATTACAAGGAAGCT AAAAACCTTCAAAAAAAGGTTAAACGAATGGCTAACTAGAATGAAGAATG TAGAGAAGAGCTTAAATGACCTGATGGAGCTGATAACCACAGTACAAGAA CTTCATGAAGGATACACAAGCTTCAATAGCTGATTCAATCAAGTGGAAGA AAGGATATCAGTGATTGAAGATAAAATTAATGAAATAAAGTGAGAAGACA AGATTAGAGACAAAAAAATAAAAAAGAAACATTCAAATTCAGGAAATACA GAGAACATCACAAAGATACTCCTTGAGAAGAGCAACCCCAAGACACATAA TTGTCAGACTCAGCAAGGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTGAC CAACAAAGGGAAGCCCATCAGACTAACAGCAGATCTCTCAGCAGAAACCA TACAAACCAGAAAAGAGTTGGGACCAATATTCAACATTCTGAAAGAAAAG ATTTTTGAAACTAGAATTTCATATCCAGCCAAACTAAGCTTCGTATGTGA ATGAGAAATAAAATCCTTTGCAGACAAGGAGATGCTGAGAGATTTTGTCA CCACCAGGCCTGCCTTACAATAAGAGCTCCTGAAGGAAGCACTAAACATG GAAAGGAACAACGGGTACCAGCCACTGCAAAAACATACGAAATTGTAAAG ACCATTGATGCTATGAAGAAACTGCATCAATTAATGGGCAAAATAACCAG CTAACGTCATGACAGGATCAAATTCACATATAACAATACTAACCTTCAAT GTAAATGGGATAAATGCCCCAATTAAAAGACACAGACTGGCAAATTGGAT AAAGAATCAAGACCCATATGGTGTGCTGTATTCAGGAGACCCATCTCACA TGCAAAGACACACATAGGCCCAAAATGAAGGTATGTCTGGAATTGGTGGG TTCTTGGTCTCACTGACTTCAAGAATGAAGCTGCGGACCCTCGCGGTGAG TGTTACAGTTCTTAAAGGCAGCGTGTCTGGAGTTTGTTCCTTCTGATGTT CAGACATGTTCAGAGTTTCTTCCTTCTGGTGGGTTCGTGGTCTTGCTGGC TTCAGGAGTGAAGCTGCGGACCTTCGCAGTGAGTGTTACAGCTCTTAAGG CAGCATGTCTGGAGTTGTTCGTTCCTCCTGTCTGGAGTTGTTCATTCCTC CTGGTGGGTTCGTGGCCTCACTGGCCTCAGGAGTGAAGCTGCAGACCTTC ACGGTGAGTGTTACAGCTCATAAAGGCAGTGTGGACCCAAAGAGTGAGCA GCAGCAAGATTTATTGCAAAGAGTGAAAGAACAAAGCTTCCACAGTGTGG AAGGGGACCCAAGCGGGTTGCTACTGCTTGAAGGGGTGGCTTGCCCCTCC ACACCTGTGGGTATTTCTAGTCAGGTGGGACAAGAGACTGAGAAAGAGAA ATAAGACACAGAGACAAAGTATAGAGAAACAACAGTGAGTCCAGGGGACC GGCGCTCAGCATACCAAGGACCTGCACCGGCACCGGTCTCTGAATTCCCT CAGTTTTTATTGATTATTATCGTCATTATTTCAGTAAAAAGGAATGTAGT AGGAGGGCAGGGTGATAATAAGGAGAAGGTCAGCAACAAACGTGAGCAAT AGAATCTACATCATAATTCAGTTCAAGGGAAGGTACTATGACTGGACGTG CACGTAAGCCAGATTTATGTTTCTCTCCACCCAAACATGTCGGTGGAGTA AAGAATAACAAGGCAGCATTGCTGCAAACATGTCTCGCCTCCCACCATAG GGCAGTTTTTCTCTCATTTCAGAATTGAACAAATGTACAATCGGGATTTA TACCGAGACATTTAGTTCCCATGGGCAGGCAGGAGACAGTGGCCTTCCTC TATCTCGACTGCAAGAGGCTTTCCTCTTTTACTAATCCACCAGAGCACAG ACCCTTTATGGGTGTCAGGCTGGGGGACAGTCAGGTCTTTCTCATCCCAT GAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCCT GCTTTCAAGGGCAGAGGTCCCTGTGGCTTTCTGCAGTGCATTGTGCCGCC AAGGCCACACCCACCCAGAACTCGTGCTGGCCTGCAAGTGCTGCGCACAG CCCCAGTTCCCGCCCATGCCTCTCCCTCCACACCTCCCTGCAATCTGAGG AAGCCAGCTCCAGTCTCAGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGC GGCGGGCTGAAGGGCTCCTCAAGCGTGGCCAGAGTGGGTGCTGAGGCTGA GGAGGTGCCAAGAGTGAGCGAGGGCTGCCAGCACACTGCCACCTCTCAAA GGGATGGAGGAAGATCTACAAAACAAATGGAAAGCAAAAAAAAGCAGGGA TTGCAATCCTGGTCTCTGATAAAACAGACATTAAACCAACAAAGATGAAA GGAGACAAAGAAGGCCATCACATAATGGTAAGGGGATCAGTTCAACAAGA AGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGAACCCAGAT TCATAAAGCAAGTTCTTAGAGACCTACAAAGAGGCTTAGACTCCCATACA ATAGTAATGGGAGACAGTAACACCCCACTGTTAATATTAGACAGAAAACA TGACAAAATTAATAAGGATGTCCAGGACTTGAACTCAGCTCTAGACCAAG TAGGCCTAATACACATCTACAGAACTCTCCACCCCAAGTCAACACAATAT ACATTCTTCTCAGCACCACATCACACTTATTCTAAAATTGACCACATAAT TGGAAGTAAAACACTCCTCAGCAAATGCCAAAGAACAGCAATCACAACAA ACTGTCTCCCAGACCACAGTGCAATCAAATTAGAACTCAGGACTGAAAAA CTCACTCAAAACTGCACAACTACATGGAAACTGAACAACCTGCTCCTGAA TGACTACTAGGTAAATAACAAACTGAAGGCAGAAATAAACATGGTCTTTG AAACCAATGAGAACAAAGACACAGTGTAGCAGAATCTCTGGGACACATTT AAAACAGTGTGTAGAGGGATATTTACAGCACTGAATA	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02145.hp2 HG02897.hp1 HG06807.hp1 others(5): Show HG02145.hp2 HG02897.hp1 HG06807.hp1 NA18982.hp2 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0163 a0002c0002t0002g0004 a0002c0002t0002g0043 a0002c0002t0002g0063	8	265	0.0302	-6786	c.722 others(13): Show c.722+228_*5408del		DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	8/8					chr14	TogoVar
DHRS4_chr14_23948770_23974279	23967497	GGGAGAAG others(6775): Show GGGAGAAGCCCTGAGTCCTCTCTCCACCTGGGGGATTGCCTCCACCTCTG AGCATCCATGGAGACCAGGGACCATAACCAAAACCATGCTTTGTTAGTCC CCTTGAATAATGACACATGTTTACAAAACTCAGGTTGATGATCTACAATC CAAATGAAAAGAATGAAGAGTTTTACTAAGCCCCAAACTCCCCTTGCCTA AGGAGTTACTTTCTTCCCCAGTGAGCTGGGTGAACTGTTCAAGCACCTTT GTCGGGCTCCCTTTCCTCTAAGTTCCCTGCCTCTCTCTACCTTCTGGCTT CAAGGACAAATGCCAGTAATGCCTAACTCTGTACTCGTCCAGACATCCCA AATCTTCCCAAAGCCATTCTGATGTGAGACATGAGCTGCAGGCCTGGTTC ATAACTCATTAATAAGTGAGGGGATTGTCAACCTAGAGCACCAATGAATG ATCTAGCCCATGTAGCTCAATACTGGATTCACATTAGAATCACCTGGGGA GCTTTTTAAACTGCAGGTGCTCAGGCCCCACCCACTCCCAGAGATTCTTT TTAATTGGTCCAAGGTAGGACTTGACCATCTGGGCTTTTGTTTTTCTTTG TCTTTTCTTTTCTTTTCTTTTTTGGTTTAAGCCTCTCAAATGATTGCAAG ATACAAGTAGAATGGAGAAGCATTAATTCAGCCCTTCTAGGTTTGAGTTA CTCACTCTGCCCACCTCTAGAGCATTCTATGGCAGGGAGATTAAAGTGTC TCCTAACTATGCAGTCACTGATAAAATAAGAATTAGCACATTCTCACTAA ATGAACCTGACTTTAAGGCACAAGTATAGATTCCTGAAAAAGTTCTAAGC TGAACCTGTACAAATGGAATCATTTTAAACACACCATTTACTGTCACACA GACTCCCTGATACTTTAGTGTGTGCACATGTGAAACCATTTTTTTGAAGT ATGAAATAATTGCTCACCATTTTATCTATATAACTTTGGATTTTGGTGTC CTGAGCTCTCTAAAAACCGGTGTGTTTCTATAGTATTTGAATATTATGGG TAATAGTTTTGCAGAGTACAGTATGCTTATACTAAATTATAACAGCATAT CCTCGTGGTAACCCTATTTGATAGGCAGAAAGCTTGTACACTGACCCTGA AAAAGCCATCTGATAATTCTTGATTAAGCAAATTTAACTCCCTGTGTCCC AGGTGAGGGAGGCAGAACTGTTTGATTTTTACCTCCTTCCTTGCTTCCCT TATTCCCCAGGTTAGGCGAGCCAGAGGATTGTGCTGGCATCGTGTCTTTC CTGTGCTCTGAAGATGCCAGCTACATCACTGGGGAAACAGTGGTGGTGGG TGGAGGAACCCCGTCCCGCCTCTGAGGACCGGGAGACAGCCCACAGGCCA GAGTTGGGCTCTAGCTCCTGGTGCTGTTCCCGCATTCACCCACTGGCCTT TCCCACCTCTGCTCACCTTACTGTTCACCTCATCAAATCAGTTCTGCCCT GTGAAAAGATCCAGCCTTCCCTGCCGTCAAGGTGGCGTCTTACTCGGGAT TTCTGCTGTTGTTGTGGCCTTGGGTAAAGGCCTCCCCTGAGAACACAGGA CAGGCCTGCTGACAAGGCTGAGTCTACCTTGGCAAAGACCAAGATATTTT TTCCCGGGCCACTGGGGAATCTGAGGGGTGATGGGAGAGAAGGAACCTGG AGTGGAAGGAGCAGAGTTGCAAATTAACAACTTGCAAATGAGGTGCAAAT AAAATGCAGATGATTGCGCGGCTTTGAATCCAATTGACCTGTTCATTTCT CAGTGTTGGGTGCTTAGCTGAGCAGAGAGCAGAAGTCTATTCAGGCTGGA TCTCTGGATCCCCCAGCCCTCCTCCCTGTCTCCAGAACTTGAGCGTGATG TTCACGGGTGGAGGTGTCTGCAGAGCTGCCAGCTGGAAGGAAGGTGGCAC GGGAACTCCCAGGACGCCACGGGAATCCCCGAGGCAGCGCGAGCCCGGAG AGAGTGGGGAAGGATGAACTCTCTAACACCTCCCCGCCCCTTGCCTCCCA GATCAGGCCAGGTCCTCTCCCCGCATGGCCCTACGACCCGAGTTCCCTCC CGAGTCAGCAAGTACAAGCTGGATGGGTCCTGAGCCGGTGGGGAATAGAG AAAGGCCCTGCAAGGTACCCAGGCCCACAAACAAAAGCAATGGGTTCTGC CCACGGGCCCGAGGATTCAGTAGAAGGAAAGTGGGGACGCTGTCCCCCGC CCCAAAGGCACTGACACTGGGCGACACACGCTGAGCCTCTCACGCCGACG GGCCTCTCACGCCGGAGCCGGCAAGAAAGGTCGGCGCCAGCCCGCGGGCT CTCAGGAGGCTCGGCAGCGCGACGCGCATGCTCAGTCGGGCAGCTCTCCG GGCCGGCGTGGGAGCCCGCGCTCCAAGGCCCGGTGGGGGGAGGGGCGCTC ACGCAACCGCCACTGTCTGGAGCGGGCTCGCCTCTGCGGCAGCCCTCACC GCCCGGGCTTTACTGAAGCGGAGTCTAGCATGTGCGGCTGCTCCACAGCG GTGTGGGTGGCGGCGGCTCCTCTGCAGCAGCCTCGGCAGTAGGGGTCAGG GTGGCCAAGCCCACCGTGGAGCTCATCTGAGAGTTGTAAGGTACGGGACT GCCTCGGTCTTTGGGACGCCCCGTCTGGTAGCATCCCAGATCCAGCACGT TCCTTCCGGCCCTGCACCCCGGCCCGGTGCCTCACACCCCGCTACCCCAA GCATCCAGACTCTAAGGCAGCCCCTGCATCTCAGTCCTGACATCGCTGTC CCTGGAGCATCCTCCGCTGGAGCTGGAGCTTGACAGGTAGGGTGGAGAGG GCGGTGGGGGGCGGGGGGCCGAAACTGCATCAGTTAACGGGGCCGTGGGG GAGGGAAGTCCTCCATTGCTAAGGCTTCAGTAGGCGTTCTATGATCACAG TGTAAACAAAGCTGCAGGGAAGCTCTAACTGGGCGGAACCCACCGCAGCT CAGCAAGGCCTACTGCCTCTCCAGATTCCACCTCAGGGGCCAGGGCATAT CTGAACAAAAGGCAGCGGACAGCTTCTGCAGACTTCAGTGTCCTTGCCTG ACATCTCTAAAGACAGCAGTGGTTCTCCCAGCACGGAGTTCGTGCTCCGA TAACGGACAGACTGCCTCCCCGAGTGGGTCCCTGACCCCCATGTAGCTTG ACTGAAAAACACCGACCAGTAGGGGCGGAGAGACACCTCATACAGGTGGG TGCCCCTGTGGAACAAAGCTTCCAGAAGAAGGATCAGGCAGCAATATTTG CTGTTCTGCAGCCTCCTCTACTGATACCCAAGAAAATAAGGTCTGGAATG GACTTCCAGCAAACCCCCAAAGACCTGCAGCTGAGGGGCCTGTTAGAAGG AAAACTAACAAACAGAAAGGAATAGCATCAACATCAGCAAAGGACAGCAT CAACATCAGAATAGCAAAGGACATCCACACTAAAACCCCATCCATAGGTC ACCAACATCAAAGACCAAAGGTAGATAAAACCACAAAGATGGAGAGAAAC CAGAGCAGAAATGCTGAAACTTCCAGAAACCAGAACGTCTCTTCTCTTCC AAAGGAATACAAGTCCTCACCAGCAAGGGAACAAAACTGGATGGAGAATA AGTTTGATAACTTGACAGAAGTTAAGCTTCAGAAGGTCAGTAATAACAAA CTACTCCCAGCTAAAGGAACATGTTCTAACCCATTACAAGGAAGCTAAAA ACCTTCAAAAAAAGGTTAAACGAATGGCTAACTAGAATGAAGAATGTAGA GAAGAGCTTAAATGACCTGATGGAGCTGATAACCACAGTACAAGAACTTC ATGAAGGATACACAAGCTTCAATAGCTGATTCAATCAAGTGGAAGAAAGG ATATCAGTGATTGAAGATAAAATTAATGAAATAAAGTGAGAAGACAAGAT TAGAGACAAAAAAATAAAAAAGAAACATTCAAATTCAGGAAATACAGAGA ACATCACAAAGATACTCCTTGAGAAGAGCAACCCCAAGACACATAATTGT CAGACTCAGCAAGGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTGACCAAC AAAGGGAAGCCCATCAGACTAACAGCAGATCTCTCAGCAGAAACCATACA AACCAGAAAAGAGTTGGGACCAATATTCAACATTCTGAAAGAAAAGATTT TTGAAACTAGAATTTCATATCCAGCCAAACTAAGCTTCGTATGTGAATGA GAAATAAAATCCTTTGCAGACAAGGAGATGCTGAGAGATTTTGTCACCAC CAGGCCTGCCTTACAATAAGAGCTCCTGAAGGAAGCACTAAACATGGAAA GGAACAACGGGTACCAGCCACTGCAAAAACATACGAAATTGTAAAGACCA TTGATGCTATGAAGAAACTGCATCAATTAATGGGCAAAATAACCAGCTAA CGTCATGACAGGATCAAATTCACATATAACAATACTAACCTTCAATGTAA ATGGGATAAATGCCCCAATTAAAAGACACAGACTGGCAAATTGGATAAAG AATCAAGACCCATATGGTGTGCTGTATTCAGGAGACCCATCTCACATGCA AAGACACACATAGGCCCAAAATGAAGGTATGTCTGGAATTGGTGGGTTCT TGGTCTCACTGACTTCAAGAATGAAGCTGCGGACCCTCGCGGTGAGTGTT ACAGTTCTTAAAGGCAGCGTGTCTGGAGTTTGTTCCTTCTGATGTTCAGA CATGTTCAGAGTTTCTTCCTTCTGGTGGGTTCGTGGTCTTGCTGGCTTCA GGAGTGAAGCTGCGGACCTTCGCAGTGAGTGTTACAGCTCTTAAGGCAGC ATGTCTGGAGTTGTTCGTTCCTCCTGTCTGGAGTTGTTCATTCCTCCTGG TGGGTTCGTGGCCTCACTGGCCTCAGGAGTGAAGCTGCAGACCTTCACGG TGAGTGTTACAGCTCATAAAGGCAGTGTGGACCCAAAGAGTGAGCAGCAG CAAGATTTATTGCAAAGAGTGAAAGAACAAAGCTTCCACAGTGTGGAAGG GGACCCAAGCGGGTTGCTACTGCTTGAAGGGGTGGCTTGCCCCTCCACAC CTGTGGGTATTTCTAGTCAGGTGGGACAAGAGACTGAGAAAGAGAAATAA GACACAGAGACAAAGTATAGAGAAACAACAGTGAGTCCAGGGGACCGGCG CTCAGCATACCAAGGACCTGCACCGGCACCGGTCTCTGAATTCCCTCAGT TTTTATTGATTATTATCGTCATTATTTCAGTAAAAAGGAATGTAGTAGGA GGGCAGGGTGATAATAAGGAGAAGGTCAGCAACAAACGTGAGCAATAGAA TCTACATCATAATTCAGTTCAAGGGAAGGTACTATGACTGGACGTGCACG TAAGCCAGATTTATGTTTCTCTCCACCCAAACATGTCGGTGGAGTAAAGA ATAACAAGGCAGCATTGCTGCAAACATGTCTCGCCTCCCACCATAGGGCA GTTTTTCTCTCATTTCAGAATTGAACAAATGTACAATCGGGATTTATACC GAGACATTTAGTTCCCATGGGCAGGCAGGAGACAGTGGCCTTCCTCTATC TCGACTGCAAGAGGCTTTCCTCTTTTACTAATCCACCAGAGCACAGACCC TTTATGGGTGTCAGGCTGGGGGACAGTCAGGTCTTTCTCATCCCATGAGG CCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCCTGCTT TCAAGGGCAGAGGTCCCTGTGGCTTTCTGCAGTGCATTGTGCCGCCAAGG CCACACCCACCCAGAACTCGTGCTGGCCTGCAAGTGCTGCGCACAGCCCC AGTTCCCGCCCATGCCTCTCCCTCCACACCTCCCTGCAATCTGAGGAAGC CAGCTCCAGTCTCAGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCGGCG GGCTGAAGGGCTCCTCAAGCGTGGCCAGAGTGGGTGCTGAGGCTGAGGAG GTGCCAAGAGTGAGCGAGGGCTGCCAGCACACTGCCACCTCTCAAAGGGA TGGAGGAAGATCTACAAAACAAATGGAAAGCAAAAAAAAGCAGGGATTGC AATCCTGGTCTCTGATAAAACAGACATTAAACCAACAAAGATGAAAGGAG ACAAAGAAGGCCATCACATAATGGTAAGGGGATCAGTTCAACAAGAAGAG CTAACTATCCTAAATATATATGCACCCAATACAGGAGAACCCAGATTCAT AAAGCAAGTTCTTAGAGACCTACAAAGAGGCTTAGACTCCCATACAATAG TAATGGGAGACAGTAACACCCCACTGTTAATATTAGACAGAAAACATGAC AAAATTAATAAGGATGTCCAGGACTTGAACTCAGCTCTAGACCAAGTAGG CCTAATACACATCTACAGAACTCTCCACCCCAAGTCAACACAATATACAT TCTTCTCAGCACCACATCACACTTATTCTAAAATTGACCACATAATTGGA AGTAAAACACTCCTCAGCAAATGCCAAAGAACAGCAATCACAACAAACTG TCTCCCAGACCACAGTGCAATCAAATTAGAACTCAGGACTGAAAAACTCA CTCAAAACTGCACAACTACATGGAAACTGAACAACCTGCTCCTGAATGAC TACTAGGTAAATAACAAACTGAAGGCAGAAATAAACATGGTCTTTGAAAC CAATGAGAACAAAGACACAGTGTAGCAGAATCTCTGGGACACATTTAAAA CAGTGTGTAGAGGGATATTTACAGCACTGAATA	G G	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(13): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00738.hp1 HG00738.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01975.hp2 HG02080.hp1 HG03669.hp2 HG03688.hp2 HG04228.hp2 NA18612.hp1 NA18973.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0166	16	155	0.1032	-6782	c.722 others(13): Show c.722+232_*5408del		DHRS4	ENSG00000157326.19	transcript	ENST00000313250.10	protein_coding	8/8					chr14	TogoVar
DIAPH2_chrX_96679842_97609997	96916417	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0140 a0001c0001t0003g0006 a0001c0001t0003g0049 a0001c0001t0004g0149 a0001c0001t0005g0038 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0007g0005 a0001c0001t0008g0040 a0001c0001t0008g0108 a0001c0001t0009g0042 a0001c0001t0010g0034 a0001c0001t0010g0104 a0001c0001t0011g0039 a0001c0001t0012g0003 a0001c0001t0012g0145 a0001c0001t0013g0013 a0001c0001t0014g0146 a0001c0001t0017g0106 a0001c0001t0018g0148 a0001c0001t0019g0143 a0001c0001t0021g0114 a0001c0003t0001g0116 a0001c0004t0001g0142	56	139	0.4029	1	c.733 others(6): Show c.733-3dupT		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	7/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96916417	G G	GTT GTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp1 HG02071.hp1 HG02257.hp2 others(3): Show HG01109.hp1 HG02071.hp1 HG02257.hp2 HG02717.hp1 HG02735.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0020 a0001c0008t0001	a0001c0001t0001g0084 a0001c0001t0002g0052 a0001c0002t0001g0016 others(3): Show a0001c0001t0001g0084 a0001c0001t0002g0052 a0001c0002t0001g0016 a0001c0002t0004g0015 a0001c0002t0020g0077 a0001c0008t0001g0008	6	89	0.0674	2	c.733 others(13): Show c.733-4_733-3dupTT		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	7/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DICER1_chr14_95081228_95162529	95124663	TAGTATCT others(18): Show TAGTATCTACAAAAAAAAGAAAAGAA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19058.hp2 NA19058.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0002 a0007c0018t0002	a0007c0018t0002g0206 a0007c0018t0002g0206	1	304	0.0033	-25	c.904 others(35): Show c.904-20_908delTTCTTTTCTTTTTTTTGTAGATACT	p.Leu others(5): Show p.Leu303fs	DICER1	ENSG00000100697.17	transcript	ENST00000343455.8	protein_coding	8/27	1253/10384	904/5769	302/1922		chr14	TogoVar
DIP2B_chr12_50499985_50753657	50741409	CTGTCAGA others(27): Show CTGTCAGAGCGTCATGATGCATTGTATGTGGTGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA20905.hp2 NA20905.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0004 a0010c0014t0004	a0010c0014t0004g0224 a0010c0014t0004g0224	1	282	0.0035	-34	c.435 others(45): Show c.4355-6_4382delTGTCAGAGCGTCATGATGCATTGTATGTGGTGGG	p.His others(6): Show p.His1454fs	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	37/38		4355/4731	1452/1576		chr12	TogoVar
DLG3_chrX_70439835_70510490	70451865	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18959.hp1 NA18959.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0170 a0003c0003t0001g0170	1	276	0.0036	0	c.986 others(5): Show c.986-2A>G		DLG3	ENSG00000082458.12	transcript	ENST00000374360.8	protein_coding	6/18					chrX	TogoVar
DLG4_chr17_7182187_7222627	7194496	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0089 a0001c0001t0023g0089	1	376	0.0027	0	c.130 others(6): Show c.1302-1G>A		DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	11/19					chr17	TogoVar
DLG4_chr17_7182187_7222627	7194497	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0089 a0001c0001t0023g0089	1	376	0.0027	0	c.130 others(6): Show c.1302-2A>C		DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	11/19					chr17	TogoVar
DLL1_chr6_170277206_170296078	170282880	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0095 a0001c0001t0010g0095	1	412	0.0024	0	c.216 others(6): Show c.2167-1G>T		DLL1	ENSG00000198719.9	transcript	ENST00000366756.4	protein_coding	10/10					chr6	TogoVar
DLL1_chr6_170277206_170296078	170282881	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0095 a0001c0001t0010g0095	1	412	0.0024	0	c.216 others(6): Show c.2167-2A>T		DLL1	ENSG00000198719.9	transcript	ENST00000366756.4	protein_coding	10/10					chr6	TogoVar
DMAC1_chr9_7791500_7804778	7798638	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0043 a0004c0005t0007g0043	1	472	0.0021	0	c.275 others(5): Show c.275-1G>A		DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding	1/1					chr9	TogoVar
DMKN_chr19_35492220_35518649	35498898	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18747.hp2 NA19082.hp2 NA18747.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0128 a0001c0002t0001g0093 a0001c0002t0001g0128	2	440	0.0045	0	c.136 others(6): Show c.1360-1G>C		DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	13/15					chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55161826	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	396	0.0025	0	c.481 others(5): Show c.481-1G>T		DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding	5/11					chr19	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
DNAH17_chr17_78418697_78582396	78571762	TTGTCCAG others(21): Show TTGTCCAGTGAAGAGGGGATCCTGCCCAG	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03654.hp2 HG03654.hp2	a0114 a0114	a0114c0027 a0114c0027	a0114c0027t0001 a0114c0027t0001	a0114c0027t0001g0031 a0114c0027t0001g0031	1	250	0.0040	-28	c.540 others(37): Show c.540-8_559delCTGGGCAGGATCCCCTCTTCACTGGACA	p.Ile others(5): Show p.Ile181fs	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	4/81	686/13725	540/13389	180/4462		chr17	TogoVar
DNAH6_chr2_84511498_84824589	84688438	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0112 a0004c0008t0001g0112	1	114	0.0088	0	c.713 others(6): Show c.7138-1G>A		DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	44/76					chr2	TogoVar
DNAI2_chr17_74269234_74319884	74314120	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0242 a0002c0006t0003g0242	1	396	0.0025	0	c.172 others(6): Show c.1723-1G>T		DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	12/13					chr17	TogoVar
DNASE1_chr16_3649691_3663095	3656047	CCAGAGGG others(49): Show CCAGAGGGGTCCCCTATGGCCCCCGCCACTGGGACCTTTTGTTTCTTCAA TCCAGGG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00544.hp1 HG00544.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0032 a0007c0012t0001g0032	1	438	0.0023	-56	c.237 others(66): Show c.237-54_238delCAGAGGGGTCCCCTATGGCCCCCGCCACTGGGACC TTTTGTTTCTTCAATCCAGGG	p.Asp others(4): Show p.Asp80fs	DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding	4/9		237/849	79/282		chr16	TogoVar
DNASE2B_chr1_84393484_84420018	84410836	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	424	0.0024	0	c.386 others(5): Show c.386-2A>T		DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding	3/5					chr1	TogoVar
DOCK6_chr19_11194295_11267524	11215472	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02486.hp2 HG02622.hp1 HG02809.hp2 others(10): Show HG02486.hp2 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp2 NA18522.hp1	a0001 a0020 a0001 a0020	a0001c0011 a0001c0014 a0001c0040 others(2): Show a0001c0011 a0001c0014 a0001c0040 a0001c0041 a0020c0024	a0001c0011t0001 a0001c0014t0001 a0001c0014t0002 others(3): Show a0001c0011t0001 a0001c0014t0001 a0001c0014t0002 a0001c0040t0001 a0001c0041t0001 a0020c0024t0001	a0001c0011t0001g0288 a0001c0011t0001g0289 a0001c0011t0001g0290 others(10): Show a0001c0011t0001g0288 a0001c0011t0001g0289 a0001c0011t0001g0290 a0001c0011t0001g0291 a0001c0011t0001g0293 a0001c0011t0001g0294 a0001c0011t0001g0295 a0001c0014t0001g0240 a0001c0014t0002g0308 a0001c0014t0002g0310 a0001c0040t0001g0053 a0001c0041t0001g0052 a0020c0024t0001g0005	13	312	0.0417	1	c.402 others(7): Show c.4022-2dupA		DOCK6	ENSG00000130158.14	transcript	ENST00000294618.12	protein_coding	31/47					chr19	TogoVar
DRAXIN_chr1_11686710_11730857	11711849	A A	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	396	0.0025	0	c.643 others(5): Show c.643-2A>T		DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding	3/6					chr1	TogoVar
DRAXIN_chr1_11686710_11730857	11719582	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	396	0.0025	0	c.938 others(5): Show c.938-2A>G		DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding	6/6					chr1	TogoVar
DYDC2_chr10_80351781_80373073	80362949	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01243.hp2 HG02809.hp1 HG03041.hp1 HG01243.hp2 HG02809.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0097 a0001c0001t0001g0031 a0001c0001t0001g0097	3	386	0.0078	0	c.148 others(5): Show c.148-2A>G		DYDC2	ENSG00000133665.13	transcript	ENST00000256039.3	protein_coding	3/4					chr10	TogoVar
DYTN_chr2_206646621_206723396	206693325	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	380	0.0026	0	c.832 others(5): Show c.832-2A>G		DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	8/11					chr2	TogoVar
DZANK1_chr20_18378367_18472030	18412855	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(209): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0007 a0001c0015 others(16): Show a0001c0001 a0001c0007 a0001c0015 a0002c0004 a0002c0005 a0002c0022 a0003c0016 a0003c0027 a0004c0008 a0005c0009 a0006c0011 a0008c0019 a0009c0023 a0010c0031 a0011c0026 a0012c0029 a0013c0035 a0014c0021 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0015t0004 a0001c0015t0010 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0016t0002 a0003c0027t0008 a0004c0008t0001 a0004c0008t0003 a0005c0009t0001 a0005c0009t0005 a0006c0011t0007 a0008c0019t0002 a0009c0023t0001 a0010c0031t0003 a0011c0026t0003 a0012c0029t0005 a0013c0035t0011 a0014c0021t0002 a0015c0030t0005	a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 others(194): Show a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0332 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0262 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0003g0247 a0001c0001t0009g0024 a0001c0001t0009g0331 a0001c0001t0010g0278 a0001c0001t0011g0276 a0001c0007t0002g0011 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0229 a0001c0007t0002g0230 a0001c0007t0003g0341 a0001c0007t0004g0022 a0001c0007t0004g0118 a0001c0007t0004g0201 a0001c0007t0004g0235 a0001c0007t0004g0250 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0004g0259 a0001c0007t0008g0244 a0001c0007t0008g0245 a0001c0007t0012g0112 a0001c0007t0013g0239 a0001c0015t0004g0260 a0001c0015t0004g0261 a0001c0015t0010g0179 a0001c0015t0010g0246 a0002c0004t0001g0035 a0002c0004t0001g0042 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0055 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0097 a0002c0004t0001g0249 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0034 a0002c0004t0003g0036 a0002c0004t0003g0037 a0002c0004t0003g0041 a0002c0004t0003g0043 a0002c0004t0003g0046 a0002c0004t0003g0049 a0002c0004t0003g0052 a0002c0004t0003g0053 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0058 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0285 a0002c0004t0015g0040 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0116 a0002c0005t0001g0117 a0002c0005t0001g0121 a0002c0005t0001g0122 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0130 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0136 a0002c0005t0001g0152 a0002c0005t0001g0155 a0002c0005t0001g0181 a0002c0005t0001g0182 a0002c0005t0001g0189 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0196 a0002c0005t0001g0241 a0002c0005t0003g0123 a0002c0005t0003g0145 a0002c0005t0003g0231 a0002c0005t0003g0240 a0002c0022t0001g0131 a0003c0016t0002g0206 a0003c0016t0002g0272 a0003c0027t0008g0236 a0004c0008t0001g0002 a0004c0008t0001g0232 a0004c0008t0001g0264 a0004c0008t0001g0265 a0004c0008t0001g0266 a0004c0008t0001g0267 a0004c0008t0003g0207 a0005c0009t0001g0147 a0005c0009t0005g0012 a0005c0009t0005g0146 a0005c0009t0005g0148 a0005c0009t0005g0238 a0005c0009t0005g0274 a0006c0011t0007g0004 a0006c0011t0007g0029 a0006c0011t0007g0030 a0006c0011t0007g0031 a0008c0019t0002g0304 a0008c0019t0002g0327 a0009c0023t0001g0132 a0010c0031t0003g0248 a0011c0026t0003g0188 a0012c0029t0005g0137 a0013c0035t0011g0098 a0014c0021t0002g0183 a0015c0030t0005g0149	212	372	0.5699	0	c.130 others(6): Show c.1300-2G>A		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	12/20					chr20	TogoVar
DZANK1_chr20_18378367_18472030	18465378	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG01106.hp1 HG01167.hp2 others(27): Show HG00140.hp2 HG01106.hp1 HG01167.hp2 HG01192.hp1 HG01361.hp2 HG01884.hp2 HG01981.hp1 HG02071.hp2 HG02148.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02895.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp2 HG03704.hp1 NA18612.hp2 NA18906.hp2 NA18947.hp2 NA18954.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0001c0006 a0001c0007 others(6): Show a0001c0001 a0001c0006 a0001c0007 a0001c0015 a0001c0020 a0002c0004 a0003c0012 a0003c0014 a0013c0035	a0001c0001t0002 a0001c0006t0001 a0001c0007t0004 others(6): Show a0001c0001t0002 a0001c0006t0001 a0001c0007t0004 a0001c0015t0004 a0001c0020t0001 a0002c0004t0001 a0003c0012t0001 a0003c0014t0001 a0013c0035t0011	a0001c0001t0002g0027 a0001c0001t0002g0262 a0001c0001t0002g0333 others(23): Show a0001c0001t0002g0027 a0001c0001t0002g0262 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0006t0001g0028 a0001c0007t0004g0022 a0001c0007t0004g0250 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0004g0259 a0001c0015t0004g0260 a0001c0015t0004g0261 a0001c0020t0001g0023 a0002c0004t0001g0097 a0003c0012t0001g0254 a0003c0012t0001g0256 a0003c0014t0001g0251 a0003c0014t0001g0252 a0003c0014t0001g0253 a0003c0014t0001g0255 a0013c0035t0011g0098	30	371	0.0809	0	c.-19 others(5): Show c.-19-1G>T		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	1/20					chr20	TogoVar
EAF1_chr3_15422598_15447613	15434345	CAGAGCTG others(20): Show CAGAGCTGAGGGCAGCAGTAAAATCCAG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0020 a0003c0008t0020	a0003c0008t0020g0095 a0003c0008t0020g0095	1	416	0.0024	-27	c.336 others(36): Show c.336-2_360delAGAGCTGAGGGCAGCAGTAAAATCCAG	p.Ala others(5): Show p.Ala113fs	EAF1	ENSG00000144597.14	transcript	ENST00000396842.7	protein_coding	4/6		336/807	112/268		chr3	TogoVar
EBLN1_chr10_22203475_22223015	22212966	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00639.hp2 HG00733.hp2 HG01346.hp1 others(7): Show HG00639.hp2 HG00733.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG02148.hp2 HG03654.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0001g0056	10	430	0.0233	0	c.-16 others(6): Show c.-168-1G>T		EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	1/2					chr10	TogoVar
ECD_chr10_73128668_73173008	73163951	CTA CTA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01074.hp1 HG01346.hp2 HG01884.hp2 others(6): Show HG01074.hp1 HG01346.hp2 HG01884.hp2 HG02257.hp2 HG02451.hp2 HG02809.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0040 a0002c0002t0003g0041 others(5): Show a0002c0002t0003g0014 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046	9	270	0.0333	-2	c.-13 others(13): Show c.-13-3_-13-2delTA		ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	1/13					chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11755407	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18963.hp2 NA18963.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0186 a0011c0016t0002g0186	1	418	0.0024	0	c.391 others(5): Show c.391-1G>C		ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	3/4					chr10	TogoVar
ECT2L_chr6_138791087_138909070	138876471	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp2 HG02109.hp1 HG02257.hp2 others(4): Show HG01884.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG03139.hp1 HG03453.hp1 NA18522.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0005 a0005c0019 a0003c0004 a0005c0005 a0005c0019	a0003c0004t0015 a0005c0005t0001 a0005c0019t0005 a0003c0004t0015 a0005c0005t0001 a0005c0019t0005	a0003c0004t0015g0213 a0005c0005t0001g0300 a0005c0005t0001g0301 others(4): Show a0003c0004t0015g0213 a0005c0005t0001g0300 a0005c0005t0001g0301 a0005c0005t0001g0302 a0005c0005t0001g0303 a0005c0005t0001g0317 a0005c0019t0005g0276	7	324	0.0216	0	c.157 others(6): Show c.1579-1G>C		ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21					chr6	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
EDDM13_chr19_56267748_56315454	56304791	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02129.hp1 HG04115.hp2 NA18960.hp2 HG02129.hp1 HG04115.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0227 a0001c0001t0003g0282 a0001c0001t0005g0178 a0001c0001t0003g0227 a0001c0001t0003g0282 a0001c0001t0005g0178	3	394	0.0076	0	c.424 others(5): Show c.424-2A>C		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14					chr19	TogoVar
EDNRA_chr4_147476097_147549954	147540366	TTTTGCTC others(24): Show TTTTGCTCTAGTTTCTTACTGCTCATGGATTA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0198 a0002c0004t0007g0198	1	278	0.0036	-31	c.103 others(43): Show c.1035-10_1055delTTTGCTCTAGTTTCTTACTGCTCATGGATTA	p.Phe others(13): Show p.Phe346_Tyr352del	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	7/8		1035/1284	345/427		chr4	TogoVar
EFCAB13_chr17_47318955_47446312	47370436	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(39): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG01346.hp2 HG01515.hp2 HG02056.hp2 HG02148.hp1 HG02965.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA21309.hp1	a0003 a0007 a0009 others(1): Show a0003 a0007 a0009 a0013	a0003c0004 a0003c0008 a0003c0016 others(3): Show a0003c0004 a0003c0008 a0003c0016 a0007c0009 a0009c0012 a0013c0017	a0003c0004t0001 a0003c0004t0002 a0003c0008t0003 others(5): Show a0003c0004t0001 a0003c0004t0002 a0003c0008t0003 a0003c0016t0002 a0007c0009t0001 a0007c0009t0002 a0009c0012t0002 a0013c0017t0001	a0003c0004t0001g0141 a0003c0004t0002g0109 a0003c0004t0002g0214 others(38): Show a0003c0004t0001g0141 a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0216 a0003c0004t0002g0219 a0003c0004t0002g0220 a0003c0004t0002g0222 a0003c0004t0002g0224 a0003c0004t0002g0226 a0003c0004t0002g0227 a0003c0004t0002g0228 a0003c0004t0002g0230 a0003c0004t0002g0231 a0003c0004t0002g0232 a0003c0004t0002g0233 a0003c0004t0002g0234 a0003c0004t0002g0236 a0003c0004t0002g0237 a0003c0004t0002g0238 a0003c0004t0002g0239 a0003c0004t0002g0240 a0003c0004t0002g0243 a0003c0004t0002g0244 a0003c0004t0002g0245 a0003c0004t0002g0246 a0003c0004t0002g0249 a0003c0004t0002g0250 a0003c0004t0002g0251 a0003c0004t0002g0253 a0003c0008t0003g0276 a0003c0016t0002g0223 a0007c0009t0001g0221 a0007c0009t0002g0218 a0007c0009t0002g0235 a0007c0009t0002g0247 a0007c0009t0002g0248 a0007c0009t0002g0252 a0009c0012t0002g0004 a0009c0012t0002g0215 a0009c0012t0002g0241 a0013c0017t0001g0209	42	354	0.1186	0	c.806 others(5): Show c.806-1G>A		EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	10/24					chr17	TogoVar
EFCAB2_chr1_244964682_245092837	244970321	T T	TCCTCC TCCTCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(111): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0011g0278 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0004g0033 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0054 a0001c0002t0004g0063 a0001c0002t0004g0065 a0001c0002t0004g0072 a0001c0002t0004g0112	114	288	0.3958	5	c.-90 others(16): Show c.-90-7_-90-3dupCCTCC		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	1/7				INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB6_chr22_43523778_43817305	43530965	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG04199.hp1 HG04199.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0134 a0004c0012t0001g0134	1	288	0.0035	0	c.423 others(6): Show c.4234-1G>A		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	30/31					chr22	TogoVar
EFEMP2_chr11_65861441_65877800	65869977	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01943.hp1 HG01943.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0026 a0004c0005t0001g0026	1	372	0.0027	0	c.608 others(5): Show c.608-1G>T		EFEMP2	ENSG00000172638.13	transcript	ENST00000307998.11	protein_coding	6/10					chr11	TogoVar
EFEMP2_chr11_65861441_65877800	65869978	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01943.hp1 HG01943.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0026 a0004c0005t0001g0026	1	372	0.0027	0	c.608 others(5): Show c.608-2A>T		EFEMP2	ENSG00000172638.13	transcript	ENST00000307998.11	protein_coding	6/10					chr11	TogoVar
EFHB_chr3_19874472_19939217	19905655	CATGGCTC others(5159): Show CATGGCTCGTCCATCATTAAAATGTGGTGTTGGTACTCCATACACACTAC ACCTATGGAAACTTGATGGGTTATACTTTCGGTTCTTTGCCTCTCCTGTG GAAAAAGAAAGGAAGACTTATGACTTAAGCAACACGAATAACCTTATCAT GCAAGATGCACACTATGTTCTCATTGACATTGAAAATGAGAATGGAACAA AAAATGAAATTGTAACAGTGCAGAAACTGCACAGATTTAGCTACAGATGA CAGAAGCATTCCCCCATGTGAGCTGGGAGACTGGTGGGATGCTACACACA ACAATACGTTGTGTTAATATTTGAAAAGACATATGTAAAAAACTCCAAAG ACTCCATCAAAAAACTGTTAGAACTAATGAATTTGGCTGGGCACAGTAGC TCATGCCTGTAATCCCAGCACTTTGTGAGGCCGAGACTGGTGGATCACTT GAGGCCAGGAGTTCGAGACCAGTTCACCAGTCTGGCCAACATGGTGAAAC CGTGTCTTCTCTAAAAATTCAAAAATTAGCTGGTCATGATGGCATGCACC TGTAATCCCAGCTACTTCGGAGGCTGAGGCACGAGAATCGCTTGAACCCA GGAGGCGGAGGTTGTGGTAAGCCAAGATCGTGCCACTGCACTCCAGCCTG GGCAACAGAGTGAGGCTCTTTCTCAAAAAACAAAAGAACTAATAAGTGAA TTAAGTAAAGTCAAAGAATACAAAATCAACACATAAAAGTCCATGGCATT TCTATAAAAAATAACAACCTAGACAAAAAAGAAATCAAGAAAATAATTCA ATTTATGATAGCATAAAAAAATACTTAGGAATAAACTTAACCAAGGGGGT AAAAGACCTGTACACTGAAAACTATAAAACAATGATGAAAGAAATTGAAG AGGACACAAATAAAATGAAGATATTCATTCCATGCTCATTGATCAGAATA ATTAATTTTCTTAAAATGTTCATACTACCCAAAGCAAAATGCAGATTCAA TGTGATCCCTATCAAAATTCCAATAGCATTCTTCACAGAAATAGAAAAAA AAAAATCTTAAAAATTTATATAGAACCACAAAAGGCTCTGAATAGCCAAA GTAATTATTAGGAAAAAGAAAAAAGTTAGAGGCATCACACATCCTAAATT TAAATTATATTACAGAGCTGTAGTAATTAGAACAGTATGGTACTGGCATA AAAACAGACATACAGGCTAGTGGAACAGAATGGAGAGCCCAGAAATAAAT CCAAACATATACAATACACTAATTTTCAACAAGGGCAGCAAGAAGAAATG ACGACACAAGGATAGTCTCTTCAATAAATGGTCCTGGGAAACCTGATTTC CACATGCAACACCATACACAAAAATCAACTAAAAATAGATTAAAAAAAAA AAACTAAACGTTAAGACCTGAAACCATAAAACTCATAGAAGAAAAAATAG AGGAAAAACTTATTGACATTGGCCTTGGCAATGATGTCTTAGATACAAAA GCTCAGACTACAAAAGCAAAAATAAATAAATGAGACTACATCAAATTAAA AACCTTCTGCATAGCAAAGGAAACAATCACCAAAATGAAAAGGCAACCTA TGAGTTGGGAAAAAAATATTTGCAAACTATGTATCTGATAGAGGGTTAAT ATTCAAAATTTATAGAAAATATGTAGCTCAATTCTTAAAATGGGTGAAGA ACTTTAATATTTAGAAAGTAAGTAAGGACATTGTATGGGAAAAAGAGATA TCAATGATGAAAAACTGCAGGGTCTCCACCATTGTTATGGAAATCCTGAA GATCAAGGGAGGTATGGCAATGATTTAGGTCTCTGGCAGCACTTTCCACT ATGCTAAGATTTGAGAGGTTTGGTGTTTTGCACTTGTTCTCACTGAGATT TGGTGCGATCATCAGAACATTGCGACCCTCATATTTCATTTACCTCATAT TAGAAACATTCAAAGGGTGATTGAGAGCTGAGAAACCAACAGAGGAGTCT TTTTATTTAAAACTGAATACTGTGCTTTTTTCTTTTCAAGTCTTGATGTG GTATTAGTTTTCTATTTCGAGATAAGAAAGTAGGACTGAAACTAGAGAAC AACCAAGAGGGTAAGAAATGTTGGAGTAAAGATATTCAGCCTCACTAGTA ACTCAAATAATGTAAATAAAAACAGTAAATGTCTTGTTATTGAAGTAACA AGAAATTATAATTGTCTCTTAGTTAAGCAAAAATAAAGAAGATTGGCTGA GCTCATTATTGGGAAGGGTGTGGAGAAATGGATATTCTCATACTCTGGGT CTAAGGGCAAATTGGGCAGTAATTTGAGCTGACAGTTTGGCTCTAAAAGT AAAAATTTCTCAGAAATCTAGGAATGTAACTTAAGGAAATAGCCAATCAC ATTTACAAAGGTATATCAACAATATGTTTTTGTAATAGTGAAAATATAAT GTAGATACTGACATGAAAAGACATTCCAAAATATTTCATAAGACAAAAAA AGCAAAAGGAAAAATGTATATATGATGTGGAACAAAATGAACATACATAC TGATATATACAAAAGTGCAAAGAAAAACATCTATGAACATATTATCGGCT GGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAGGCA GATGGATCGCCTGAGATTAGAAGTTCGAGACCAGCCTGACCAACACGGTG AAACCCAGTCTCTACTAAAAATACAGAAATTAGCCAGGCATGGTGGCGGG CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCAGGCCACTTCACTCCAG CCTGGACGAAAGAGCAAAACTCCGTCTCAAAAAAAGAAAGAAAGAGAGAA AGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGTTCTGTGTGAGATAGAGAATTGTGGGAATTTTTTGTATATTG TATATTTCTGTATAGCTTTCATTTTATAAAAGTATCTATCACTTTAGTAA TGATTAAAATTAAGTTATTTTAAAGTATTAAGTGTATTTTAAATGTTGTA GGTCCATATTTATTGCTATCTACATATTATTTAAGTAAAAAATTTAAAAT ATATAGAGCAGGCTCCCTAAAAGCATGGAGAGTATTATCCCATTTATTTA ATGATTAATGATTTAATGGCTGAATGGATGGGGGTTAGAAAAAATGTTCA GAGAGAGGAAGTGGAGCAAGACGGCAGAATAGAAAGCTCCACTGATCATG TCCCAGTCCCGTGTCCCAGACCCACACCCGCCCCCCACCCCCTACAAGGA CCAAGTTGACAACTATCTACACAGATATGAGTGCCCATCTCAAAAATCAG GTGGGCAACTCATAGTACTTGATTTTAACTTCATAGCACTGAAAAAAAAA AGGCACTCAAGAGATAGAAAAAATAGTTTTGAATCACAGACACCACCCCT CCCCAACCCCGGCAGCAGCAGAGTGATGGGCAGAGCTTCTCCTGGCACCA GGGCAGGGAGAACACAGCAATTGTGAGGTATCAAACTCAGTGCTTTCCTG TTAGAGCAGAATGGAAAACTGAACCAAACTCAGCTGATGCCCGTCCCCAG AGGCAGCATTTAAATCAGCCCCACCAGAAAAGGAATTGCCAATCCCAGTA GTCCAAACTTGAGTGCCTGCAAACCTCGCCACCAAGGGCTACAGCACTCT GTGTCTCCAAGTAACCTTGAAAGGCAGTCTAGGCCATAAGGACTGGAACT CTTAGGCGACTCCCAGAGCAGAACCAGGCCCAGAGACAGTGGACTGGGGG TGGGGTAGGTGGTGGGATACATGTCATACTGGGACACCAGCTGGGGCAGC CAAGGGAATGCTGGCATCACCCCTCCCTTAACCCCAGGCTGCACAGCTCC GCTCATGGCTCCAAAAGGGACCCCTTCCTTCCGCTTGAGGAGAGGAGAGG GAAGAGCAGGGAAGACTTCACCTTGCATCTAGGACACCACCTCAGCCACA GCAAGATAGGGCACTGTGGGACTCAGGAGGCCGCCATTCCAGGCCCTGGT TTGCAGATGACGTTTCTAGACACATCCGGGGCCAAAAGGATGTGTCTTTC CTTCACTGCCTTGAAGGAAAGAACCCAATCCTGGCAGCATTCATCACCTG CTAACCGAAGAGCTCTTGGGCCCTGAATAACCAGCTGCAGTTATTCAGGG CCCAGGTAGTATATCAAGGGCCTTGGGTAAGCCTCTGAGACTTCCTGGCT TCAGAAGAGACTTAGCACATTACCAGCTGTGGTAGCTACAGAGCAAAACT CCTTCTGCTTGAGAAAAGTAGAGGGAAAAGTAAGGGGAACTTTGTCCTAC ACCTTGGGTACCAGCATGGCCACAGGGGAGCAGAGCACGAAGCAGGCTCT TAGGGTTCCTGATTCCAGGACTTGGCTCTTGAATAGCATTTCTAGACCTG CTCTGGGCCATAGAGGAATCCACTTCCCTGAAGGGTAAGTCCCAGGCCAT TAACTTCAAGCTGACTTAAGAGACCTTGGGCCTTAAGAGAACATTGGTGG TAGTCTGGCAGTATTCCTCATGGCCTGGGGTGGCGGTGGCTACCCAGTGA GGTTCCTCTGTCTTTGGGAGGGGGAGGGAAGAGTGGGAAAGACTGTATCT TGTGGTTTGAGTGCCAGCTCAGCTGCAATACAGTAGAATACCTGGTAGAC GTCTAAAATTTTTGACTCTAGTCCTTGACTCCCAGACAGTACTTCTGTAC CCACCCAGGGCCTGGGGGACCTCACCACCCTGAAGGGAAGGACACAGGCC TGGCTGGCTTTACCACCTGTTAATTGTAGAGCCCCAGGACCTTGAGTGAA CGTAGGCTGCAGCCAGAGGTTGAGTACAGCAGGACTTGGGTGAGACCAAA TGCTACACTAGCTTCAAGTCTGATCCAATACAGTCAGCAGTGGTGGCCAC AGGGGTACTTGTGTCACTCAACCCCCAGCTTTAGGTGGCTCAGAACCGAG AGAAAGACTGTATGTTTAGGAGAAAGTAAAGGAAAAGAACATGAGCCTCT GCCTTGTAACCCAGGGA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03831.hp2 HG03831.hp2	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0001 a0024c0037t0001	a0024c0037t0001g0140 a0024c0037t0001g0140	1	342	0.0029	-5166	c.128 others(14): Show c.1288+4482_1382del	p.Glu others(5): Show p.Glu431fs	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	6/13	1581/2860	1289/2502	430/833		chr3	TogoVar
EFNA1_chr1_155122876_155139899	155133938	G G	GCCCTCTC others(7): Show GCCCTCTCACCTTGC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	348	0.0029	14	c.506 others(26): Show c.506-16_506-3dupCCCTCTCACCTTGC		EFNA1	ENSG00000169242.12	transcript	ENST00000368407.8	protein_coding	4/4				INFO_REALIGN_3_PRIME	chr1	TogoVar
EIF3CL_chr16_28374715_28408841	28392144	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01106.hp1 HG02257.hp1 HG02280.hp2 others(5): Show HG01106.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02647.hp1 HG02809.hp1 NA18522.hp2 NA20129.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0018 a0003c0003 a0005c0009 a0002c0018 a0003c0003 a0005c0009	a0002c0018t0001 a0003c0003t0002 a0005c0009t0002 a0002c0018t0001 a0003c0003t0002 a0005c0009t0002	a0002c0018t0001g0028 a0003c0003t0002g0010 a0003c0003t0002g0011 others(5): Show a0002c0018t0001g0028 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0016 a0005c0009t0002g0015	8	172	0.0465	0	c.777 others(5): Show c.777-2A>G		EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	8/20					chr16	TogoVar

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