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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C1orf159_chr1_1076823_1121089	1080649	A A	ACCCCCAC others(217): Show ACCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCT GTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCC CCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCT CCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCAC CTCGGTCCCTGTCTCCTTCCCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0232 a0001c0002t0004g0232	1	326	0.0031	224	c.22 others(235): Show c.2243_*2244insCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCG GAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGA CCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGG GAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGA GGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1173		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080692	G G	GGTCCCTG others(217): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	326	0.0031	224	c.22 others(235): Show c.2200_*2201insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1130		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(217): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(24): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG01074.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG03831.hp1 NA18612.hp1 NA18947.hp1 NA18952.hp2 NA18960.hp1 NA18967.hp1 NA18971.hp1 NA18977.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19091.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0242 a0005c0008t0001g0049	27	326	0.0828	224	c.19 others(235): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(217): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCGCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0320 a0008c0024t0001g0320	1	326	0.0031	224	c.145 others(241): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCG CCCCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C6orf132_chr6_42096119_42147620	42145030	C C	CTAATTTT others(217): Show CTAATTTTCATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0007 a0006c0006t0007	a0006c0006t0007g0137 a0006c0006t0007g0137	1	364	0.0028	224	c.-25 others(235): Show c.-2587_-2586insTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATGAAAATTA	C6orf132	ENSG00000188112.10	transcript	ENST00000341865.9	protein_coding		2411		chr6	TogoVar
C7orf50_chr7_992006_1143247	1116532	A A	AGGACCGG others(217): Show AGGACCGGCTTCCATCACCGACGCCCACACAGGATGATGACAGCACTACA GCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAGC ACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGAT GACATCACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAG GATGACGACATCACTACAGCTCTAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0302 a0002c0002t0003g0302	1	326	0.0031	224	c.129 others(243): Show c.129+10724_129+10725insGTAGAGCTGTAGTGATGTCGTCATCC TGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGATGTCA TCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTG CTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCT GTAGTGCTGTCATCATCCTGTGTGGGCGTCGGTGATGGAAGCCGGTCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116532	A A	AGGACCGG others(217): Show AGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAGCACTACA GCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAGC ACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGAT GACAGCACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAG GATGATGACAGCACTACAGCTCTAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	326	0.0031	224	c.129 others(243): Show c.129+10724_129+10725insGTAGAGCTGTAGTGCTGTCATCATCC TGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGCTGTCA TCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTG CTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCT GTAGTGCTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116695	C C	CTCTACGG others(217): Show CTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACGTCA CTACAGCTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGGATGATG ACGTCACTACAGCTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGG ATGATGACGTCACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCA CGCAGGATGATGACATCACTACAGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04204.hp1 HG02698.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0206 a0001c0001t0011g0207	2	326	0.0061	224	c.129 others(243): Show c.129+10561_129+10562insACTGTAGTGATGTCATCATCCTGCGT GGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGACGTCATCATC CTGCGTGGACGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGACGTC ATCATCCTGCGTGGACGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGT GACGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1117141	C C	CTCTACGG others(217): Show CTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGGATGATG ACATCACTGCAGTTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGG ATGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGACGCCCA CGCAGGATGATGACATCACTGCAGT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0155 a0001c0001t0008g0155	1	326	0.0031	224	c.129 others(243): Show c.129+10115_129+10116insACTGCAGTGATGTCATCATCCTGCGT GGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATC CTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAACTGCAGTGATGTC ATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGT GATGTCATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1117197	C C	CTCTACGG others(217): Show CTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGGATGATG ACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCACGCAGG ATGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGACGCCCA CGCAGGATGATGACATCACTGCAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0157 a0001c0001t0008g0157	1	326	0.0031	224	c.129 others(243): Show c.129+10059_129+10060insACTGCAGTGATGTCATCATCCTGCGT GGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATC CTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGTGATGTC ATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGT GATGTCATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1117365	C C	CTCTACGG others(217): Show CTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTGCAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGAAGCCCACGCAGG ATGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGACGCCCA CGCAGGATGATGACATCACTACAGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02723.hp2 others(3): Show HG01884.hp1 HG02257.hp2 HG02723.hp2 HG02886.hp1 HG03209.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0298 a0002c0002t0003g0300 a0002c0002t0003g0301 others(3): Show a0001c0001t0003g0298 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0304	6	326	0.0184	224	c.129 others(241): Show c.129+9891_129+9892insACTGTAGTGATGTCATCATCCTGCGTGG GCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATCCT GCGTGGGCTTCGGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCAT CATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCAGTGA TGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNB4_chr2_151827771_152104044	151875950	G G	GGGGCGGC others(217): Show GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCGTCTCGCCTGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0093 a0001c0002t0003g0093	1	230	0.0044	224	c.521 others(239): Show c.521+475_521+476insTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCAGGCGAGACGCCCCGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(217): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGAG TGGGGACGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGAGGGGG GCAGGGAAGGGGAATGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19066.hp2 NA18612.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0006 a0001c0001t0002 a0001c0011t0006	a0001c0001t0002g0073 a0001c0011t0006g0117 a0001c0001t0002g0073 a0001c0011t0006g0117	2	340	0.0059	224	c.104 others(243): Show c.1045+2187_1045+2188insTCCTCCTCCCATTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCGTCCCCACTCCCCTCCCCCACTCCCGTCCCCAC TCCCCTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCC CACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTC CCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(217): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0271 a0002c0003t0001g0271	1	364	0.0028	224	c.234 others(241): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTT CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(217): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAG AAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0257 a0002c0003t0003g0257	1	364	0.0028	224	c.234 others(241): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTT CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(217): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0288 a0002c0004t0002g0288	1	364	0.0028	224	c.234 others(241): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTC CCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(217): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAGAAG GAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0312 a0002c0004t0002g0312	1	364	0.0028	224	c.234 others(241): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTT CTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(217): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0352 a0002c0004t0002g0352	1	364	0.0028	224	c.234 others(241): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTC CCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(217): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0248 a0003c0005t0001g0248	1	364	0.0028	224	c.234 others(241): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(217): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAG GAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0258 a0002c0004t0002g0258	1	364	0.0028	224	c.234 others(241): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTT CTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(217): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG GGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0321 a0002c0003t0006g0321	1	364	0.0028	224	c.234 others(241): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCC TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(217): Show AAGAAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGA AGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0226 a0001c0002t0003g0226	1	364	0.0028	224	c.234 others(241): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAAGAG others(217): Show AAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGA AGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0172 a0001c0002t0003g0172	1	364	0.0028	224	c.234 others(241): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAGGAG others(217): Show AAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0223 a0001c0002t0003g0223	1	364	0.0028	224	c.234 others(241): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AGGAGGAA others(217): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0199 a0001c0002t0003g0199	1	364	0.0028	224	c.234 others(241): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGAAGAG others(217): Show AAGAAGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0035	1	364	0.0028	224	c.234 others(241): Show c.234+6831_234+6832insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGAGGAG others(217): Show AAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0219 a0001c0002t0003g0219	1	364	0.0028	224	c.234 others(241): Show c.234+6831_234+6832insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88894442	A A	ACACACAT others(217): Show ACACACATGCACGCACACATGCACGCACACATGCATACATATACACATGC ACACAATGTACACACATGCACGCACACATGCACGCACACATGCATACATA TACACATGCACACAATGTACACACATGCACGCACACATGCATACATATAC ACATGCACACAATGTACACACATGCACACACACATGCATACATATTCACA TGCACACAATGTACACACATGCACG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0011 a0001c0021t0011	a0001c0021t0011g0077 a0001c0021t0011g0077	1	284	0.0035	224	c.380 others(241): Show c.380-1958_380-1957insCGTGCATGTGTGTACATTGTGTGCATGT GAATATGTATGCATGTGTGTGTGCATGTGTGTACATTGTGTGCATGTGTA TATGTATGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATAT GTATGCATGTGTGCGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCA TGTGTATATGTATGCATGTGTGCGTGCATGTGTGCGTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(217): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp2 others(159): Show HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG03130.hp1 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0005g0004 a0001c0001t0005g0030 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0097 a0001c0001t0005g0100 a0001c0001t0008g0084 a0001c0001t0011g0028 a0001c0001t0016g0082 a0001c0001t0018g0096 a0001c0001t0019g0101	162	408	0.3971	224	c.178 others(239): Show c.178-380_178-379insCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(217): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCC GCCCTGTCTGGGAGGGAGGTGGGGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19012.hp2 NA19081.hp1 NA18994.hp1 NA19012.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0008g0076 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0008g0076	3	408	0.0074	224	c.178 others(239): Show c.178-380_178-379insCCCCCACCTCCCTCCCAGACAGGGCGGCTG GCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(217): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG02055.hp2 others(15): Show HG01167.hp1 HG01884.hp1 HG02055.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0004 a0002c0002t0009 a0005c0005t0004 a0002c0002t0004 a0002c0002t0009 a0005c0005t0004	a0002c0002t0004g0007 a0002c0002t0004g0022 a0002c0002t0004g0023 others(4): Show a0002c0002t0004g0007 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0041 a0002c0002t0009g0038 a0002c0002t0009g0040 a0005c0005t0004g0037	18	408	0.0441	224	c.178 others(239): Show c.178-380_178-379insCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(217): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACC CTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCC CCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	410	0.0024	224	c.-22 others(235): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(217): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACC CTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCC CCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	410	0.0024	224	c.-22 others(235): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC77_chr12_396644_447642	420863	A A	AAATACAC others(217): Show AAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGC TCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAT ACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0228 a0003c0003t0002g0228	1	432	0.0023	224	c.413 others(241): Show c.413+2228_413+2229insATACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCGCTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC83_chr11_85850383_85925013	85895220	A A	ACAAATGC others(217): Show ACAAATGCTAAACTGTTTGAAATTCTGCCTTTGGATAGACAGTCCTTTGA AAATACAAATATTCTTGTGTAAGAGATCTTAAACTAATTCACATTAAGGT ATTAGTAAATTATTAGATCATATCTTCTAATTGGAGGAATTAGATTCTTC AGTACCCTGAAAATTCAGAAAAAAAATGTTTAGAAAGGAGAACTGAGGAT GATGGAAAATAAAATTTACTGACAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00597.hp2 others(68): Show HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01934.hp2 HG01978.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02148.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03942.hp1 HG04199.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp2 NA18949.hp2 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18973.hp1 NA18986.hp1 NA18991.hp2 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19067.hp1 NA19076.hp1 NA19077.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0004 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0006t0001 a0002c0003t0002 a0003c0004t0002 a0004c0005t0001 a0005c0007t0002	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(68): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0002g0066 a0001c0001t0002g0139 a0001c0001t0006g0140 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0177 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0251 a0001c0002t0001g0320 a0001c0006t0001g0137 a0001c0006t0001g0138 a0002c0003t0002g0141 a0002c0003t0002g0142 a0002c0003t0002g0143 a0002c0003t0002g0148 a0002c0003t0002g0149 a0002c0003t0002g0151 a0002c0003t0002g0152 a0002c0003t0002g0155 a0002c0003t0002g0156 a0002c0003t0002g0157 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0166 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0176 a0003c0004t0002g0085 a0003c0004t0002g0162 a0003c0004t0002g0205 a0003c0004t0002g0282 a0003c0004t0002g0293 a0004c0005t0001g0153 a0004c0005t0001g0154 a0004c0005t0001g0159 a0004c0005t0001g0167 a0005c0007t0002g0147 a0005c0007t0002g0158	71	334	0.2126	224	c.512 others(237): Show c.512-71_512-70insAATGCTAAACTGTTTGAAATTCTGCCTTTGGA TAGACAGTCCTTTGAAAATACAAATATTCTTGTGTAAGAGATCTTAAACT AATTCACATTAAGGTATTAGTAAATTATTAGATCATATCTTCTAATTGGA GGAATTAGATTCTTCAGTACCCTGAAAATTCAGAAAAAAAATGTTTAGAA AGGAGAACTGAGGATGATGGAAAATAAAATTTACTGACATCA	CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC88C_chr14_91266323_91422820	91293523	C C	CTCACCCG others(217): Show CTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTT CCTGTCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0098 a0004c0008t0002g0098	1	284	0.0035	224	c.411 others(241): Show c.4112+649_4112+650insATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGGGACAGGAAG GTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCN4_chr8_133186039_133236690	133213962	C C	CTATATAT others(217): Show CTATATATACACTATATATAGTAGTTATATATACTATATATACACTATAT ATAGTTATATATACTATATTAACTATATATAGTTATATATACTATATATA ACTATATATAGTATATATAGTATATATAACTATATATAGTAGTTATATAT ACTATATATACACTATATATAGTATATATACACTATATATAGTAGTTATA TATACTATATATACACTATATATAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0273 a0004c0019t0001g0273	1	396	0.0025	224	c.349 others(239): Show c.349+873_349+874insTATATATACTATATTAACTATATATAGTTA TATATACTATATATAACTATATATAGTATATATAGTATATATAACTATAT ATAGTAGTTATATATACTATATATACACTATATATAGTATATATACACTA TATATAGTAGTTATATATACTATATATACACTATATATAGTATATATACA CTATATATAGTAGTTATATATACTATATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD163_chr12_7465811_7508777	7498786	T T	TAAGAGTT others(217): Show TAAGAGTTCAGGCTCTTCATTGGGAGATATACCTAATGCTAGATGACACG TTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAAC CTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAATAAA TAAATAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	428	0.0023	224	c.778 others(237): Show c.778+81_778+82insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTATTTATTTATTTATTT TTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTT ACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCA TCTAGCATTAGGTATATCTCCCAATGAAGAGCCTGAACTCTT	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	4/16			chr12	TogoVar
CD226_chr18_69848274_69952873	69894560	G G	GGAGGGGA others(217): Show GGAGGGGAGGGGAGGGAGGGGAGGGGAGGGAAGGGAGGGAAGGGAGGGAA GGGGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGG ATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGG AGACGGGGAGGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAG GGCAGGGGAGGGGAAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0100 a0001c0001t0088g0100	1	256	0.0039	224	c.727 others(241): Show c.727+1140_727+1141insTCCCCTCCCCTTCCCCTCCCCTGCCCTT CCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCCCCTTC CCTCCCTTCCCTCCCTTCCCTCCCCTCCCCTCCCTCCCCTCCCCTC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(217): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0246 a0002c0003t0004g0246	1	424	0.0024	224	c.774 others(239): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD3G_chr11_118339344_118360161	118355861	A A	ATATACGC others(217): Show ATATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA19011.hp2 NA18978.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0025 a0001c0001t0003g0006 a0001c0001t0003g0025	2	442	0.0045	224	c.27 others(235): Show c.2761_*2762insTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTG	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		701		chr11	TogoVar
CDC42EP5_chr19_54460026_54478296	54472279	G G	GCCCCCAG others(217): Show GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGAC CCCCCAGCCCCTCCTCCCTCAGACTCATGAGTCCAGACCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	421	0.0024	224	c.-14 others(241): Show c.-141-595_-141-594insGTCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGGGTCTGGACTCATGAGTCTGAGGGAGGAGGGGCTGGGGGGTC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(217): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0005 a0005	a0005c0056 a0005c0056	a0005c0056t0025 a0005c0056t0025	a0005c0056t0025g0233 a0005c0056t0025g0233	1	334	0.0030	224	c.-25 others(235): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065114	A A	ATAGTATT others(217): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGGTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0044 a0001c0001t0029g0044	1	334	0.0030	224	c.-25 others(235): Show c.-2598_-2597insCCACCTCTTAATACTACCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCT CTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2249		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(217): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	440	0.0023	224	c.12 others(235): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882049	G G	GATATATA others(217): Show GATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TGTAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATATG TAGATACATCTATATGTAGATACATCTATATGTAGATACATCTATATATA GATACATCTATATGTAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0006 a0005c0008t0006	a0005c0008t0006g0014 a0005c0008t0006g0014	1	440	0.0023	224	c.11 others(235): Show c.1127_*1128insAGATGTATCTACATATAGATGTATCTATATATAG ATGTATCTACATATAGATGTATCTACATATAGATGTATCTACATATAGAT GTATCTACATATAGATGTATCTACATATAGATGTATCTACATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		229		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882086	C C	CTAGATAG others(217): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	440	0.0023	224	c.10 others(235): Show c.1090_*1091insTATAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		192		chr13	TogoVar
CEP72_chr5_607340_658553	649609	G G	GGACTGTG others(217): Show GGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGTGAGGCGTGGACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	91	0.0110	224	c.177 others(243): Show c.1778+1703_1778+1704insTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(217): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTAAATTTTT TGTTTAATTTAAATTAAACATTTAAATTAAATGTTTAATTTAAATTAAAC ATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02896.hp1 HG02897.hp1 others(6): Show HG00642.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03516.hp1 HG03540.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0299 a0001c0001t0003g0300 others(6): Show a0001c0001t0003g0172 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306	9	336	0.0268	224	c.231 others(241): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATGTT TAATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACAAAA AATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTAATTTAA ATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAA TGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP299_chr4_80330730_80968750	80800557	T T	TTATATAA others(217): Show TTATATAATATATTAATATAAATATATAATATATAATATATTAATATAAA TATATAATATATAATATATTAATATAAATATATAATATATAATATATTAA TATAAATATATAATATATAATATATTAATATAAATATATAATATATAATA TATTAATATAAATATATAATATATAATATATTAATATAAATATATAATAT ATAATATATTAATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02647.hp2 NA18983.hp2 others(1): Show HG00597.hp2 HG02647.hp2 NA18983.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0002c0002t0001g0046	4	96	0.0417	224	c.334 others(243): Show c.334-69347_334-69346insAATATATTAATATAAATATATAATAT ATAATATATTAATATAAATATATAATATATAATATATTAATATAAATATA TAATATATAATATATTAATATAAATATATAATATATAATATATTAATATA AATATATAATATATAATATATTAATATAAATATATAATATATAATATATT AATATAAATATATAATATATAATATATTAATATAAATATATAATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar

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