Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0238 a0003c0032t0001g0238	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GGGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTT GAGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0001 a0012c0033t0001	a0012c0033t0001g0236 a0012c0033t0001g0236	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(310): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGGAAAGAGGGGGAGGGGA GGAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGG GGGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTT GAGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0174 a0003c0004t0001g0174	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTC CTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTC TCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GGAGGGAG others(310): Show GGAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGA GGAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGG GGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTG AGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAGG GAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	276	0.0036	317	c.286 others(334): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCCCC CCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCCC CTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCTC	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491611	A A	AGGGAGGG others(310): Show AGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAGG AGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAGGG AGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGGGG GGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAGGGA GAAGGGGGGAGGGAGAAG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0233 a0003c0004t0001g0233	1	276	0.0036	317	c.286 others(334): Show c.2864+143_2864+144insCTTCTCCCTCCCCCCTTCTCCCTACCCC TTCTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTT CTCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCC TCCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTC TCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCC CCCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCC CCCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCC	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CCDC144A_chr17_16685241_16782881	16769811	T T	TGCATTTT others(310): Show TGCATTTTCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18947.hp1 NA19072.hp1 HG01070.hp2 NA18947.hp1 NA19072.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0010 a0002c0002 a0013c0010	a0002c0002t0002 a0013c0010t0002 a0002c0002t0002 a0013c0010t0002	a0002c0002t0002g0187 a0002c0002t0002g0191 a0013c0010t0002g0221 a0002c0002t0002g0187 a0002c0002t0002g0191 a0013c0010t0002g0221	3	318	0.0094	317	c.409 others(336): Show c.4099-2150_4099-2149insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCGCATTTTCTCTTTTTT	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC148_chr2_158166073_158461753	158428619	T T	TAAAAAGT others(310): Show TAAAAAGTCAGGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02280.hp1 HG02615.hp2 others(3): Show HG01192.hp1 HG02280.hp1 HG02615.hp2 HG03540.hp2 NA18949.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0001 a0004c0003t0002 others(1): Show a0001c0001t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0004	a0001c0001t0002g0109 a0001c0001t0002g0251 a0004c0003t0001g0071 others(3): Show a0001c0001t0002g0109 a0001c0001t0002g0251 a0004c0003t0001g0071 a0004c0003t0002g0069 a0004c0003t0004g0070 a0004c0003t0004g0140	6	264	0.0227	317	c.25+ others(334): Show c.25+27795_25+27796insTTTTTTTTTTTTTTTTTTTTTGAGATGG AGTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTGTTTCCTGACTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(310): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCC TCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCC GCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	317	c.-22 others(328): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC91_chr12_28185456_28555166	28285663	T T	TCTGTGTT others(310): Show TCTGTGTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 NA19043.hp1 HG02922.hp2 HG03579.hp1 NA19043.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0002 a0005c0005t0001 a0005c0005t0002	a0005c0005t0001g0020 a0005c0005t0001g0021 a0005c0005t0002g0022 a0005c0005t0001g0020 a0005c0005t0001g0021 a0005c0005t0002g0022	3	242	0.0124	317	c.110 others(336): Show c.110-19974_110-19973insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCTGTGTTTCTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCT8L2_chr22_16585751_16597810	16588652	T T	TAAAGATG others(310): Show TAAAGATGACATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02257.hp2 HG02280.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	2	432	0.0046	317	c.22 others(328): Show c.2224_*2225insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTAATGTCATCTTT	CCT8L2	ENSG00000198445.4	transcript	ENST00000359963.4	protein_coding		2098		chr22	TogoVar
CD109_chr6_73691203_73833313	73795114	C C	CAAGATTT others(310): Show CAAGATTTAGTTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0166 a0004c0005t0007g0166	1	362	0.0028	317	c.287 others(336): Show c.2878+2330_2878+2331insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAGATTTAGTTTTTCTGG	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73795114	C C	CAAGATTT others(310): Show CAAGATTTAGTTTTTCTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG01981.hp2 others(9): Show HG00280.hp2 HG01167.hp1 HG01981.hp2 HG02698.hp2 HG03017.hp1 HG03654.hp2 NA18940.hp1 NA18946.hp1 NA18990.hp1 NA19000.hp1 NA19085.hp2 NA19088.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0006 a0005c0006t0018 others(1): Show a0005c0006t0004 a0005c0006t0006 a0005c0006t0018 a0005c0006t0027	a0005c0006t0004g0014 a0005c0006t0004g0031 a0005c0006t0004g0032 others(9): Show a0005c0006t0004g0014 a0005c0006t0004g0031 a0005c0006t0004g0032 a0005c0006t0006g0108 a0005c0006t0006g0131 a0005c0006t0006g0181 a0005c0006t0006g0194 a0005c0006t0006g0203 a0005c0006t0006g0227 a0005c0006t0006g0292 a0005c0006t0018g0025 a0005c0006t0027g0225	12	362	0.0332	317	c.287 others(336): Show c.2878+2330_2878+2331insCCGGGCGTGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CGGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAGATTTAGTTTTTCTGG	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD209_chr19_7734993_7752534	7739125	A A	ACAAAAAA others(310): Show ACAAAAAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01928.hp2 NA18944.hp2 others(9): Show HG00597.hp2 HG01928.hp2 NA18944.hp2 NA18963.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18991.hp1 NA19012.hp1 NA19060.hp1 NA19083.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0004g0004 a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0004g0004	12	454	0.0264	317	c.39 others(328): Show c.3913_*3914insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAATTTTTTG	CD209	ENSG00000090659.18	transcript	ENST00000315599.12	protein_coding		867		chr19	TogoVar
CDC123_chr10_12191188_12255589	12237433	T T	TTATTATT others(310): Show TTATTATTATTATTATTATTATTATTTTTTTTTTTTTTGAGACGGAGTCT CGCTGTCGCCCACGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGC CTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18977.hp2 NA19005.hp1 others(1): Show HG03710.hp2 NA18977.hp2 NA19005.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0246 a0001c0001t0004g0266 others(1): Show a0001c0001t0004g0050 a0001c0001t0004g0246 a0001c0001t0004g0266 a0001c0001t0004g0278	4	392	0.0102	317	c.688 others(332): Show c.688+180_688+181insATTATTATTATTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCACGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGCCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTATTATTATTATT	CDC123	ENSG00000151465.14	transcript	ENST00000281141.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH7_chr18_65746012_65895337	65820033	T T	TAAAAAAA others(310): Show TAAAAAAATCATCTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGGGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0033 a0002c0004t0033	a0002c0004t0033g0079 a0002c0004t0033g0079	1	208	0.0048	317	c.626 others(334): Show c.626-2030_626-2029insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGGGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAATCATCTGAGGC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(310): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT AAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0144 a0002c0003t0002g0157 a0002c0003t0002g0144 a0002c0003t0002g0157	2	196	0.0102	317	c.742 others(336): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTAAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(310): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00621.hp2 others(30): Show HG00099.hp2 HG00140.hp1 HG00621.hp2 HG00639.hp1 HG01106.hp1 HG01167.hp1 HG01361.hp2 HG01516.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp2 HG02273.hp2 HG03491.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18956.hp1 NA18966.hp2 NA18992.hp1 NA18994.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19082.hp1 NA19091.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(19): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0028 a0001c0002t0044 a0001c0002t0049 a0002c0003t0002 a0002c0003t0005 a0002c0003t0013 a0002c0003t0020 a0002c0007t0002 a0002c0007t0005	a0001c0001t0003g0113 a0001c0001t0005g0137 a0001c0001t0007g0043 others(30): Show a0001c0001t0003g0113 a0001c0001t0005g0137 a0001c0001t0007g0043 a0001c0001t0010g0035 a0001c0001t0010g0109 a0001c0001t0012g0163 a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0003g0032 a0001c0002t0003g0114 a0001c0002t0005g0064 a0001c0002t0006g0050 a0001c0002t0006g0052 a0001c0002t0006g0110 a0001c0002t0009g0183 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0016g0045 a0001c0002t0028g0117 a0001c0002t0044g0038 a0001c0002t0049g0059 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0005g0036 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0013g0037 a0002c0003t0020g0075 a0002c0007t0002g0048 a0002c0007t0005g0061 a0002c0007t0005g0062	33	196	0.1684	317	c.742 others(336): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL2_chr16_80592907_80809598	80663084	T T	TAAAAAAA others(310): Show TAAAAAAATTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	258	0.0039	317	c.616 others(336): Show c.616+21453_616+21454insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTTTTT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	2/6			chr16	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	AGAATATA others(310): Show AGAATATATATATATAGAATATATATATAGAATATATATATATAGAATAT ATATATAGAATATATATATATAGAATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	388	0.0026	317	c.487 others(334): Show c.487+1101_487+1102insGAATATATATATATAGAATATATATATA GAATATATATATATAGAATATATATATAGAATATATATATATAGAATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(310): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATAGAATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	388	0.0026	317	c.487 others(334): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATAGAATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(310): Show ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	388	0.0026	317	c.487 others(334): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATATATAGAATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CETN2_chrX_152821994_152835757	152833246	C C	CAAAAGTT others(310): Show CAAAAGTTATATGTGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATT AGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02965.hp1 NA18977.hp1 HG02055.hp1 HG02965.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	3	321	0.0094	317	c.-25 others(328): Show c.-2537_-2536insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCATCACGGCCGGCTAATTTTTTTGTATTTT TAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCG TGAGCCACCGCGCCCGGCCCACATATAACTTTT	CETN2	ENSG00000147400.10	transcript	ENST00000370277.5	protein_coding		2490		chrX	TogoVar
CFAP44_chr3_113281930_113446493	113328297	T T	TCAATCTC others(310): Show TCAATCTCTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCTACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0056 a0003c0007t0056	a0003c0007t0056g0052 a0003c0007t0056g0052	1	348	0.0029	317	c.411 others(334): Show c.4117-479_4117-478insGCCGGGCGCGGTAGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAGATTG	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CCTTCCCT others(310): Show CCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT GCTTCCTTTCTTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTC ATCCCTCCCTCCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCT TCCTTCCTTTCTTTCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTT TCCTTCCATCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18951.hp2 HG03225.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0001 a0001c0001t0001 a0001c0026t0001	a0001c0001t0001g0236 a0001c0026t0001g0141 a0001c0001t0001g0236 a0001c0026t0001g0141	2	236	0.0085	317	c.321 others(336): Show c.3217-2046_3217-2045insCTTCCTTCCTTCTCTCCTTCCTTCCT TCCCTCCCTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTTCCTTGCT TCCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCTTTCCTTC CTTCCCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTTCCTTCCC TTCCTTCCTTCCCTCTTTTCCTTCCATCTTTCCTTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHD9_chr16_53049991_53332497	53149742	T T	TAGAAATG others(310): Show TAGAAATGGGGTCTTGCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGAAGGCTGA GGCAGGAGAATGGCGTGAACCCAAGAGGCGGAGCTTGCAGTGAGCCGGGA TAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00621.hp2 others(37): Show HG00140.hp2 HG00558.hp2 HG00621.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01243.hp1 HG02015.hp1 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02300.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG03017.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18946.hp2 NA18950.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18981.hp1 NA18982.hp1 NA18993.hp1 NA18999.hp2 NA19012.hp2 NA19062.hp2 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 others(2): Show a0001c0001 a0001c0003 a0001c0015 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0001t0015 a0001c0003t0002 others(8): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0002 a0001c0003t0010 a0001c0003t0013 a0001c0003t0016 a0001c0003t0017 a0001c0003t0019 a0001c0015t0002 a0001c0016t0002 a0001c0017t0002	a0001c0001t0001g0159 a0001c0001t0015g0166 a0001c0003t0002g0002 others(37): Show a0001c0001t0001g0159 a0001c0001t0015g0166 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0015 a0001c0003t0002g0023 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0036 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0059 a0001c0003t0002g0070 a0001c0003t0002g0073 a0001c0003t0002g0080 a0001c0003t0002g0083 a0001c0003t0002g0086 a0001c0003t0002g0094 a0001c0003t0002g0125 a0001c0003t0002g0142 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0161 a0001c0003t0002g0170 a0001c0003t0002g0191 a0001c0003t0002g0202 a0001c0003t0002g0224 a0001c0003t0010g0006 a0001c0003t0010g0013 a0001c0003t0013g0186 a0001c0003t0016g0039 a0001c0003t0017g0181 a0001c0003t0019g0004 a0001c0015t0002g0053 a0001c0016t0002g0156 a0001c0017t0002g0237	40	238	0.1681	317	c.-16 others(336): Show c.-164-6168_-164-6167insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGA AGGCTGAGGCAGGAGAATGGCGTGAACCCAAGAGGCGGAGCTTGCAGTGA GCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAGAAATGGGGTCTTGC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLCN3_chr4_169615578_169728673	169667680	T T	TAAAAATA others(310): Show TAAAAATACAGGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03688.hp1 HG03831.hp1 others(2): Show HG02896.hp1 HG03688.hp1 HG03831.hp1 HG04115.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0016 a0001c0001t0024 a0001c0001t0052 others(1): Show a0001c0001t0016 a0001c0001t0024 a0001c0001t0052 a0001c0006t0046	a0001c0001t0016g0226 a0001c0001t0024g0218 a0001c0001t0024g0222 others(2): Show a0001c0001t0016g0226 a0001c0001t0024g0218 a0001c0001t0024g0222 a0001c0001t0052g0030 a0001c0006t0046g0220	5	288	0.0174	317	c.161 others(336): Show c.161-12352_161-12351insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAATACAGGATTTTTG	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLCN3_chr4_169615578_169728673	169667680	T T	TAAAAATA others(310): Show TAAAAATACAGGATTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0229 a0001c0001t0014g0229	1	288	0.0035	317	c.161 others(336): Show c.161-12352_161-12351insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAATACAGGATTTTTG	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLEC10A_chr17_7069537_7085251	7077305	T T	TCCATCAG others(310): Show TCCATCAGTGCCCCCTCACCATTCCCATCAATCACTCCATCAGTGCTCCG ACCACTGTTCTCATCAATCACTCCATCAGTGCCCCCCACTATTCCCATCA GTCACCCCATCAGTGCTCCCATCACCATTCCCATCAATCACTCCATCAGT GCTCCGACCACTGTTCTCATCAATCACTCCATCAGTGCCCCCCACTATTC CCATCAGTCACCCCATCAGTGCTCCCATCACCATTCCCATCAATCACTCC ATCAGTGCTCCGACCACTGTTCTCATCAATCACTCCATCAGTGCCCCCCA CTATTCCCATCAGTCACC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(73): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00741.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01358.hp1 HG01433.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02258.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03942.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18973.hp1 NA18975.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19006.hp1 NA19006.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19075.hp2 NA19079.hp2 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0006 a0001c0002 a0001c0004 a0002c0006	a0001c0002t0001 a0001c0002t0009 a0001c0002t0019 others(2): Show a0001c0002t0001 a0001c0002t0009 a0001c0002t0019 a0001c0004t0001 a0002c0006t0001	a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0016 others(16): Show a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0009g0061 a0001c0002t0019g0087 a0001c0004t0001g0086 a0002c0006t0001g0118	76	458	0.1659	317	c.185 others(332): Show c.185-319_185-318insGGTGACTGATGGGAATAGTGGGGGGCACTG ATGGAGTGATTGATGAGAACAGTGGTCGGAGCACTGATGGAGTGATTGAT GGGAATGGTGATGGGAGCACTGATGGGGTGACTGATGGGAATAGTGGGGG GCACTGATGGAGTGATTGATGAGAACAGTGGTCGGAGCACTGATGGAGTG ATTGATGGGAATGGTGATGGGAGCACTGATGGGGTGACTGATGGGAATAG TGGGGGGCACTGATGGAGTGATTGATGAGAACAGTGGTCGGAGCACTGAT GGAGTGATTGATGGGAATGGTGAGGGGGCACTGATGG	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
COL3A1_chr2_188969373_189017746	188989139	T T	TAATATTC others(310): Show TAATATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTC TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp2 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0112 a0001c0001t0010g0111 a0001c0001t0001g0112 a0001c0001t0010g0111	2	376	0.0053	317	c.637 others(332): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTCTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAATATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	188989139	T T	TAATATTC others(310): Show TAATATTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	376	0.0027	317	c.637 others(332): Show c.637-247_637-246insGGCCGGGCGCGGTGGCTCACGCCTGTAATC TCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAATATTCCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COPA_chr1_160283594_160348250	160291670	G G	GAAGAAAT others(310): Show GAAGAAATGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02572.hp1 others(5): Show HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02723.hp1 HG02895.hp1 HG02965.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0022 a0001c0001t0007g0084 a0001c0001t0007g0183 others(4): Show a0001c0001t0007g0022 a0001c0001t0007g0084 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0013g0189	8	366	0.0219	317	c.325 others(334): Show c.3258+148_3258+149insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCACATTTCTT	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	30/32			chr1	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(310): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAA GCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01243.hp1 others(20): Show HG00423.hp2 HG00621.hp2 HG01243.hp1 HG01256.hp1 HG01891.hp1 HG01993.hp1 HG02074.hp1 HG02280.hp2 HG03654.hp2 HG03834.hp2 NA18747.hp2 NA18948.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18970.hp1 NA19007.hp1 NA19055.hp2 NA19057.hp2 NA19082.hp2 NA19083.hp1 NA19086.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0114 a0002c0002t0001g0260 a0002c0002t0002g0007 others(15): Show a0002c0002t0001g0114 a0002c0002t0001g0260 a0002c0002t0002g0007 a0002c0002t0002g0016 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0129 a0002c0002t0002g0131 a0002c0002t0002g0134 a0002c0002t0002g0145	23	330	0.0697	317	c.591 others(332): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(310): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAA GCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	330	0.0030	317	c.591 others(332): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(310): Show GCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCTCGTGTCACC CGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCTCGTGTCA CCCGCGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0194 a0001c0002t0013g0194	1	348	0.0029	317	c.928 others(332): Show c.928-454_928-453insAACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCTCGTGT CACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCTCGT GTCACCCGCGTGTCACCCACAGATACATGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREB1_chr2_207524962_207610988	207607677	T T	TATCATAC others(310): Show TATCATACATACATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0186 a0001c0001t0058g0186	1	308	0.0033	317	c.10 others(330): Show c.10619_*10620insATCATACATACATTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCC	CREB1	ENSG00000118260.15	transcript	ENST00000353267.8	protein_coding		1690		chr2	TogoVar
CRYBG1_chr6_106355717_106577017	106365679	T T	TATTTTTT others(310): Show TATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCAC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAT GAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	272	0.0037	317	c.173 others(334): Show c.173+4608_173+4609insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCATGAGCCACCGCGCCCGGCCATTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112449372	G G	GCCAGACA others(310): Show GCCAGACACGTTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01070.hp1 others(12): Show HG00544.hp1 HG00597.hp2 HG01070.hp1 HG01099.hp2 HG02040.hp2 HG02056.hp2 HG03669.hp1 HG03927.hp1 NA18975.hp2 NA18981.hp1 NA18990.hp2 NA18995.hp2 NA19011.hp2 NA19087.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0023 a0001c0002t0002 a0001c0002t0020 a0001c0002t0023	a0001c0002t0002g0011 a0001c0002t0002g0039 a0001c0002t0002g0042 others(12): Show a0001c0002t0002g0011 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0002g0050 a0001c0002t0002g0073 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0088 a0001c0002t0002g0092 a0001c0002t0002g0095 a0001c0002t0002g0105 a0001c0002t0002g0108 a0001c0002t0002g0121 a0001c0002t0020g0085 a0001c0002t0023g0074	15	324	0.0463	317	c.330 others(332): Show c.330+215_330+216insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCAGACACGTTATTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(310): Show CCTATATAATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG02056.hp2 HG00323.hp1 HG01099.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	264	0.0114	317	c.-15 others(328): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146808267	T T	TAATAAAA others(310): Show TAATAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	272	0.0037	317	c.-15 others(328): Show c.-1525_-1524insAATAAAATTATATAGTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1503		chrX	TogoVar
CYP51A1_chr7_92107153_92139477	92122220	G G	GAAAGAAA others(310): Show GAAAGAAAAGCACAGATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	392	0.0026	317	c.108 others(334): Show c.1086+899_1086+900insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGATCTGTGCTTTTCTTT	CYP51A1	ENSG00000001630.18	transcript	ENST00000003100.13	protein_coding	7/9			chr7	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(310): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp1 HG01346.hp1 others(1): Show HG00099.hp2 HG01261.hp1 HG01346.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0007g0031 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0007g0031	4	320	0.0125	317	c.546 others(334): Show c.546+3884_546+3885insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(310): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0338 a0001c0003t0003g0338	1	416	0.0024	317	c.500 others(334): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DDR2_chr1_162627464_162792405	162791518	G G	GCATTTGG others(310): Show GCATTTGGCATTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTG AGCCACCGCGCCCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02109.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0011 a0001c0001t0011 a0001c0005t0011	a0001c0001t0011g0103 a0001c0005t0011g0077 a0001c0001t0011g0103 a0001c0005t0011g0077	2	302	0.0066	317	c.11 others(330): Show c.11272_*11273insCATTTGGCATTTTTTTTTTTTTTTTTTTTTTT TGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CGGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding		4114		chr1	TogoVar
DDX51_chr12_132131594_132149319	132136305	T T	TCCCCGAG others(310): Show TCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCC CACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCC TCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAG TGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCCGGT GCCCGCTCCTCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0018 a0002c0018t0018	a0002c0018t0018g0027 a0002c0018t0018g0027	1	334	0.0030	317	c.29 others(328): Show c.2966_*2967insGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGG GGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGG GGCACCGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACA CTCGGGAGGTGGGAGGAGGGGCACCGTGGGCACACTCGGGAGGTGGGAGG TAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGGGG CACACTCGGGAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCGGGGAGG TGGGAGGAGCGGGCACCGTGGGCACACTCGGGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		288		chr12	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(310): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATACATA TAATATATACATATATTATATACATATAATATATACATATATTATATACA TATAATATATACATATATTATATACATATAATATATACATATATTATATA CATATAATATATACATATATTATATACATATAATATATACATATATTATA TACATATAATATATACATATATTATATACATATAATATATACATATATTA TATACATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0069 a0001c0003t0026g0069	1	280	0.0036	317	c.126 others(334): Show c.126+1125_126+1126insGTATATATTATATGTATATAATATATGT ATATATTATATGTATATAATATATGTATATATTATATGTATATAATATAT GTATATATTATATGTATATAATATATGTATATATTATATGTATATAATAT ATGTATATATTATATGTATATAATATATGTATATATTATATGTATATAAT ATATGTATATATTATATGTATATAATATATGTATATATTATATGTATATA ATATATAATTATATATTATATATCATAATATGTAATATATAATTATATAT TACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(310): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCG CCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCC GCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGC CTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	317	c.27 others(328): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGC GGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGG GGAGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGGA GGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGCR8_chr22_20075241_20116872	20075431	A A	AAGATTTC others(310): Show AAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG01433.hp2 others(1): Show HG00099.hp2 HG01192.hp2 HG01433.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0001c0007t0015	a0001c0001t0002g0093 a0001c0001t0006g0028 a0001c0001t0025g0028 others(1): Show a0001c0001t0002g0093 a0001c0001t0006g0028 a0001c0001t0025g0028 a0001c0007t0015g0028	4	419	0.0096	317	c.-52 others(328): Show c.-5230_-5229insAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCT TGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAAT TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4809		chr22	TogoVar
DISP2_chr15_40353219_40383621	40380648	G G	GCCATTTT others(310): Show GCCATTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG03669.hp2 HG01192.hp1 HG03669.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0006 a0001c0007t0008g0006	2	396	0.0051	317	c.10 others(330): Show c.10330_*10331insCCATTTTTTTGTATTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding		2028		chr15	TogoVar
DLGAP2_chr8_732628_1713476	1374134	A A	ACAGAAGG others(310): Show ACAGAAGGCTGTGTGGTGGAGGTTAGGTTAGGTTTGCAGACGGCTGTGTG GTGGAGGTTAGGTTAGGTTTACAGAAGGCTGTGTGGTGGAGGTTAGGTTA GGTTTGCAGAGGGCTGTGTAGTGTGGAGGTTAGGTTAGGTTTACAGAAGG CTGTGTGGTGGAGGTTAGGTTAGGTTTGCAGAGGGCTGTGTGGTGGAGGT TAGGTTAGGTTTGCAGACGGCTGTGTGGTGGAGGTTAGGTTAGGTTTACA GAAGGCTGTGTGGTGGAGGTTAGGTTAGGTTTACAGAAGGCTGTGTGGTG GAGGTTAGGTTAGGTTTG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	317	c.106 others(338): Show c.106+115255_106+115256insAGGCTGTGTGGTGGAGGTTAGGTT AGGTTTGCAGACGGCTGTGTGGTGGAGGTTAGGTTAGGTTTACAGAAGGC TGTGTGGTGGAGGTTAGGTTAGGTTTGCAGAGGGCTGTGTAGTGTGGAGG TTAGGTTAGGTTTACAGAAGGCTGTGTGGTGGAGGTTAGGTTAGGTTTGC AGAGGGCTGTGTGGTGGAGGTTAGGTTAGGTTTGCAGACGGCTGTGTGGT GGAGGTTAGGTTAGGTTTACAGAAGGCTGTGTGGTGGAGGTTAGGTTAGG TTTACAGAAGGCTGTGTGGTGGAGGTTAGGTTAGGTTTGCAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554836	G G	GAAGGTAA others(310): Show GAAGGTAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0027 a0003c0003t0001g0027	1	126	0.0079	317	c.199 others(336): Show c.1993-9503_1993-9502insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTACCTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar

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