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
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(214): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02886.hp2 HG02970.hp1 others(2): Show HG02056.hp2 HG02886.hp2 HG02970.hp1 HG03098.hp2 HG04228.hp2	a0003 a0006 a0036 a0003 a0006 a0036	a0003c0003 a0003c0015 a0006c0010 others(1): Show a0003c0003 a0003c0015 a0006c0010 a0036c0058	a0003c0003t0001 a0003c0015t0001 a0006c0010t0001 others(1): Show a0003c0003t0001 a0003c0015t0001 a0006c0010t0001 a0036c0058t0001	a0003c0003t0001g0192 a0003c0003t0001g0211 a0003c0015t0001g0188 others(2): Show a0003c0003t0001g0192 a0003c0003t0001g0211 a0003c0015t0001g0188 a0006c0010t0001g0223 a0036c0058t0001g0040	5	326	0.0153	221	c.145 others(238): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(214): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGACCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0001 a0003c0045t0001	a0003c0045t0001g0191 a0003c0045t0001g0191	1	326	0.0031	221	c.145 others(238): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACC CCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(214): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGATGACCCCCCCC ACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGACCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0024 a0024	a0024c0044 a0024c0044	a0024c0044t0001 a0024c0044t0001	a0024c0044t0001g0217 a0024c0044t0001g0217	1	326	0.0031	221	c.145 others(238): Show c.145-7382_145-7381insTGGGGGGATGACCCCCCCCACCTCCCTC CCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGG CGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACC CCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAGG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNG6_chr19_53986637_54017666	53991045	G G	GCCCCCAG others(214): Show GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTC CTCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCC AGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC CAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCC CTCAGACCCAGGAGTTCAGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	430	0.0023	221	c.-18 others(232): Show c.-1833_-1832insCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCC AGGCCCCAGCCCCTCCTCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGCCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		591		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53991045	G G	GCCCCCAG others(214): Show GCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTC CTCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCC AGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC CAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCC CTCAGACCCAGGAGTTCAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0224 a0001c0001t0141g0224	1	394	0.0025	221	c.81 others(232): Show c.8196_*8197insCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCC AGGCCCCAGCCCCTCCTCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCCAGGAGTTCAGGCCCCCAGCCCCTCCTCCCTCAGAC CCAGGAGCCCAGGCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		831		chr19	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(214): Show GGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGG GAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTG GGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGAGGGGA GTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGCAG GGAAGGGGAAGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0306 a0001c0002t0020g0306	1	340	0.0029	221	c.104 others(240): Show c.1045+2187_1045+2188insTCCCCCCTCCCCTTCCCCTTCCCTGC CCCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCC CTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACT CCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCT TCCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN11_chr6_44153820_44189401	44181669	C C	CACACATA others(214): Show CACACATACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACACTCACATACAGACAAAACCA CACCACACTCACACACACACAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04228.hp2 NA20905.hp2 HG04199.hp2 HG04228.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0016 a0004c0004t0001g0044 a0004c0004t0001g0016 a0004c0004t0001g0044	3	460	0.0065	221	c.193 others(238): Show c.1938+352_1938+353insCATACACACTCACATACAGACACAACCA CACCACACACACACATACACACTCACATACAGACACAACCACACCACACT CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACAAAACCACACCACACTCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182044	C C	CACTCACA others(214): Show CACTCACACACACATACACACTCACATACAGACACAACCACACCACACTC ACACACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACATACACACTCAAATACAGACACAACCACACCACACTCACACACACAC ACACTCACATACAGACACAACCACACCACACACACACACACACATACAGA CACAACCACACCACACACACAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0281 a0003c0003t0002g0281	1	460	0.0022	221	c.193 others(238): Show c.1938+726_1938+727insTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCAAATACAGACACAACCAC ACCACACTCACACACACACACACTCACATACAGACACAACCACACCACAC ACACACACACACATACAGACACAACCACACCACACACACATAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(214): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0291 a0002c0004t0004g0291	1	364	0.0028	221	c.234 others(238): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761455	A A	AAGAAGAA others(214): Show AAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	364	0.0028	221	c.234 others(238): Show c.234+6852_234+6853insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(214): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0209 a0001c0002t0003g0209	1	364	0.0028	221	c.234 others(238): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAGGAG others(214): Show AAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAG AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0197 a0001c0002t0003g0197	1	364	0.0028	221	c.234 others(238): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AGGAGGAA others(214): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAG AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0224 a0001c0002t0003g0224	1	364	0.0028	221	c.234 others(238): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AGGAGGAA others(214): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGGAAGGGGAAGGGGA AGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAG AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0190 a0001c0002t0003g0190	1	364	0.0028	221	c.234 others(238): Show c.234+6831_234+6832insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCT TCCCCTTCCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761479	A A	AGGAGGAA others(214): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAG AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0168 a0001c0006t0003g0168	1	364	0.0028	221	c.234 others(238): Show c.234+6828_234+6829insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761479	A A	AGGAGGAA others(214): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0179 a0001c0007t0009g0179	1	364	0.0028	221	c.234 others(238): Show c.234+6828_234+6829insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761482	A A	AGGAGGAA others(214): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGA AGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAG AAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0177 a0001c0006t0003g0177	1	364	0.0028	221	c.234 others(238): Show c.234+6825_234+6826insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCT TCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(214): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0187 a0001c0002t0003g0187	1	364	0.0028	221	c.234 others(238): Show c.234+6810_234+6811insTCTTCTTCTTCTTCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCC CTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88975123	C C	CCTCTCTG others(214): Show CCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCT CTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCC TGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTGACCTG CAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGACCTGCAGCCAT ATCAAAGGGCCACCCTGACCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	284	0.0035	221	c.151 others(238): Show c.151+1533_151+1534insAGGGTCAGGGTGGCCCTTTGATATGGCT GCAGGTCAGGAGCAGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTC AGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCA GAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGG TCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975134	G G	GACCTGCA others(214): Show GACCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCT GCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTCACCTGCAGCCA TGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCA GAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGT CCACCCTGGCCCTCTGCTCCTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	284	0.0035	221	c.151 others(238): Show c.151+1522_151+1523insGAGGAGCAGAGGGCCAGGGTGGACCTCT GACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACAT GGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTG CAGGTGAGGAGCAGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCA GGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975140	C C	CAGCCATG others(214): Show CAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCC ATGTCAGAGGTCCACCCTGATCCTCTGCTCCTGACCTGCAGCCATGTCAG AGGTCCACCCTGGCCCTCTGCTCCTGACCTGCAGCCATATCAAAGGGCCA CCCTGACCCTCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTG ATCCTCTCTGCTCCACATCTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	284	0.0035	221	c.151 others(238): Show c.151+1516_151+1517insAAAGATGTGGAGCAGAGAGGATCAGGGT GGACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGGTGGCCC TTTGATATGGCTGCAGGTCAGGAGCAGAGGGCCAGGGTGGACCTCTGACA TGGCTGCAGGTCAGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGC AGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975158	A A	ACCCTGAC others(214): Show ACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCT GATCCTCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGACCC TCTGCTCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGC TCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTCAC CTGCAGCCATGTCAGAGGCCCG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0040 a0001c0001t0010g0040	1	284	0.0035	221	c.151 others(238): Show c.151+1498_151+1499insCGGGCCTCTGACATGGCTGCAGGTGAGG AGCAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAG AGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAGCAGAGGGTCA GGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGGATCAGGGTG GACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975168	T T	TCTCTGCT others(214): Show TCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGC TCCTGACCTGCAGCCATATCAAAGGGCCACCCTGACCCTCTCTGCTCCTG ACCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCACATCTT TAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCC ATGTCAGAGGTCCACCCTGATC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	284	0.0035	221	c.151 others(238): Show c.151+1488_151+1489insGATCAGGGTGGACCTCTGACATGGCTGC AGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTAAAGATG TGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAG CAGAGAGGGTCAGGGTGGCCCTTTGATATGGCTGCAGGTCAGGAGCAGAG GATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	221	c.-22 others(232): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	221	c.-22 others(232): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	221	c.-22 others(232): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	221	c.-22 others(232): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	221	c.-22 others(232): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	410	0.0024	221	c.-22 others(232): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(214): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTC CCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCC TCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	410	0.0024	221	c.-22 others(232): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882024	C C	CAGGGGGA others(214): Show CAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAA GGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0161 a0001c0003t0003g0161	1	288	0.0035	221	c.303 others(240): Show c.303+24097_303+24098insTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTC CTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCG GCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCT	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	419847	A A	ACTCCATG others(214): Show ACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTT CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAACACACATAGCAGCACC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02109.hp2 HG02559.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0326 a0004c0004t0001g0093 a0002c0002t0001g0326 a0004c0004t0001g0093	2	432	0.0046	221	c.413 others(238): Show c.413+1218_413+1219insCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420049	T T	TAAACACA others(214): Show TAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCAT GTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA ACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0289 a0003c0003t0001g0289	1	432	0.0023	221	c.413 others(238): Show c.413+1431_413+1432insACTCCATGCTCCATTACAGTGCTCTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTC CATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCAC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420420	A A	AAACACAC others(214): Show AAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAACACACACATAGCAGCACACTCCA TGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0330 a0001c0001t0004g0330	1	432	0.0023	221	c.413 others(238): Show c.413+1786_413+1787insCACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACA CACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420535	T T	TCTTCTGT others(214): Show TCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGC ACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACC CTCCATGCTCCATTACAGTGCA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0003c0003t0004 a0001c0001t0008 a0003c0003t0004	a0001c0001t0008g0170 a0003c0003t0004g0331 a0001c0001t0008g0170 a0003c0003t0004g0331	2	432	0.0046	221	c.413 others(238): Show c.413+1950_413+1951insCCTCCATGTTCCATTACAGTGCACTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCC ATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCAC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(214): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGAAGGGAGGGAAGGGAGGGAAGG GGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGATG GGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGA CGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCA GGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp2 HG02886.hp2 others(1): Show HG01243.hp1 HG02717.hp2 HG02886.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0001c0001t0050 a0001c0001t0094 others(1): Show a0001c0001t0025 a0001c0001t0050 a0001c0001t0094 a0002c0002t0015	a0001c0001t0025g0069 a0001c0001t0050g0008 a0001c0001t0094g0135 others(1): Show a0001c0001t0025g0069 a0001c0001t0050g0008 a0001c0001t0094g0135 a0002c0002t0015g0072	4	256	0.0156	221	c.727 others(238): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTGCCCT TCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCC TCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCA CTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCCTCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CEP112_chr17_65630537_66197133	65970817	T T	TATATTGC others(214): Show TATATTGCATGCATGGCACATTTCTATCGTATGCATGTGGCATATTACAT GCATGTATAACAAATGTATATCACGTACATGTACATTTGCATCACATATA TCACGTGCATGTATCATACATACATATCACATGAATATCGCATACATGTA ACGTGTGCACATCATACATGTCGCATGCACGTTGCGTGTATTTTACATTC GTGCCACATGTATAATGCATGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01109.hp1 HG00280.hp1 HG00642.hp2 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0070 a0001c0002t0001g0092 a0001c0002t0001g0056 a0001c0002t0001g0070 a0001c0002t0001g0092	3	112	0.0268	221	c.173 others(240): Show c.1737-9220_1737-9219insGCATGCATTATACATGTGGCACGAAT GTAAAATACACGCAACGTGCATGCGACATGTATGATGTGCACACGTTACA TGTATGCGATATTCATGTGATATGTATGTATGATACATGCACGTGATATA TGTGATGCAAATGTACATGTACGTGATATACATTTGTTATACATGCATGT AATATGCCACATGCATACGATAGAAATGTGCCATGCATGCAATAT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP72_chr5_607340_658553	649992	G G	GGACTGTG others(214): Show GGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAG GTGTGACTGTGAGGTGTGACTGTGAGGTGTGACCACGAGGCATGGACTGT GAGATGGGACTGTGAGGTATGTGACCATGGGGTGTGGGCTGTGAGGTATC AACCCTGAGTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACT GTGAGGTGTGACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03834.hp2 HG04228.hp2 HG02602.hp1 HG03834.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0079 a0002c0002t0001g0088 a0002c0002t0001g0072 a0002c0002t0001g0079 a0002c0002t0001g0088	3	91	0.0330	221	c.177 others(240): Show c.1778+2086_1778+2087insTGTGACTGTGAGGTGTGACTGTGAGG TGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACCACG AGGCATGGACTGTGAGATGGGACTGTGAGGTATGTGACCATGGGGTGTGG GCTGTGAGGTATCAACCCTGAGTGTGAGGTGTGACTGTGAGGTGTGACTG TGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132887600	T T	TTCTCTCT others(214): Show TTCTCTCTCCTCTCCTCTCCCTTCTTCTCTCTCCTCTCCTCTCTCCTCTT TCACCTCTCTCTCTCCTCTCCTCTCTCTCTCCTCTCCTCTCTCTCTCTGC TCCTCTCTCTCTCCTCTCCCCTCTTCTCTCTCTCCTCTCCCCTCTTCTCT CCTCTCCCTTCTTCTCTCTCCTCTCCTCTCCCCTCTTCTCTCCTCTCCCC TCTTCTCTCCTCTCCCTTCTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0033 a0033	a0033c0074 a0033c0074	a0033c0074t0002 a0033c0074t0002	a0033c0074t0002g0006 a0033c0074t0002g0006	1	246	0.0041	221	c.330 others(240): Show c.3305-1642_3305-1641insGAAGAAGGGAGAGGAGAGAAGAGGGG AGAGGAGAGAAGAGGGGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAG AAGAGGGGAGAGGAGAGAGAGAAGAGGGGAGAGGAGAGAGAGAGGAGCAG AGAGAGAGAGGAGAGGAGAGAGAGAGGAGAGGAGAGAGAGAGGTGAAAGA GGAGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAGGAGAGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888684	A A	ACCCCTGC others(214): Show ACCCCTGCCGCCTTCACCCCTGCCGCCTTCACCCCTGCCACCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACC TTCACCCCTGCCGCCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCAC CTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCC GCCTGCACCTGCCACCTTCACC	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA20300.hp2 HG02647.hp1 NA20300.hp2	a0016 a0026 a0016 a0026	a0016c0026 a0026c0016 a0016c0026 a0026c0016	a0016c0026t0002 a0026c0016t0001 a0016c0026t0002 a0026c0016t0001	a0016c0026t0002g0097 a0026c0016t0001g0171 a0016c0026t0002g0097 a0026c0016t0001g0171	2	246	0.0081	221	c.330 others(240): Show c.3305-2726_3305-2725insGGTGAAGGTGGCAGGTGCAGGCGGCA GGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGTGC AGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTG GCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGG TGAAGGTGGCAGGGGTGAAGGCGGCAGGGGTGAAGGCGGCAGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888691	A A	ACCTTCAC others(214): Show ACCTTCACCCCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTG CACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCT GCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCCCTGCCGC CTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCA CCTGCCACCTTCACCCCTGCCG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0014 a0012c0025t0002g0014	1	246	0.0041	221	c.330 others(240): Show c.3305-2733_3305-2732insCGGCAGGGGTGAAGGTGGCAGGTGCA GGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGCGG CAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGG GTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGG CGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20356818	T T	TACTGTGA others(214): Show TACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGCGA GTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGG TCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAG GGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0021 a0001c0006t0003g0021	1	236	0.0042	221	c.351 others(240): Show c.3514-3391_3514-3390insCTGTGAGTGAGGAGGTAGTCACACTG AGGGGAGGTGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGG TAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGA GGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGG TCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357669	T T	TAGTGTGA others(214): Show TAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	236	0.0042	221	c.351 others(240): Show c.3514-2540_3514-2539insGTGTGAGGGGAGGTGGTCACACTGAG GAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357913	C C	CTGTGAGG others(214): Show CTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGCGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACAGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0002 a0010c0020t0002	a0010c0020t0002g0123 a0010c0020t0002g0123	1	236	0.0042	221	c.351 others(240): Show c.3514-2295_3514-2294insTGAGGGGAGGTGGTCACATTGAGGAG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGA GGTGGTCATAGTGTGCGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAGTGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLIP2_chr7_74284407_74410935	74400986	T T	TTGATCTG others(214): Show TTGATCTGAAGGGAGAGGCAGCTCTGTCCTGGGAACCCTAGTCTGAAAGG GAAGGCATCTCTGTCCCGGGAACCTTGATCTGAAGAGGGAGGCAGCTCTG TCCCGGAACCCTGGTCTGAAGGGGGAGGCAGCTCTGTCCCGGGAACCCTG GTCTGAAGGGGGAGGTGGCGCTGTCCCAGGAACCTCCATCAGAAATGGGA GGCAGCCCTGGCCCAGGAACCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0013 a0001c0007t0007g0013	1	278	0.0036	221	c.306 others(238): Show c.3066+438_3067-292dupGAAGGGAGAGGCAGCTCTGTCCTGGGAA CCCTAGTCTGAAAGGGAAGGCATCTCTGTCCCGGGAACCTTGATCTGAAG AGGGAGGCAGCTCTGTCCCGGAACCCTGGTCTGAAGGGGGAGGCAGCTCT GTCCCGGGAACCCTGGTCTGAAGGGGGAGGTGGCGCTGTCCCAGGAACCT CCATCAGAAATGGGAGGCAGCCCTGGCCCAGGAACCCTGATCT	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNOT3_chr19_54132762_54160681	54133855	T T	TCTCCCTC others(214): Show TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCC CCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTC TCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCT CCCCTCCCTCTCTCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	223	0.0045	221	c.-41 others(232): Show c.-4189_-4188insCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTCCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3906		chr19	TogoVar
COL19A1_chr6_69861556_70217468	69921450	A A	ATATCATA others(214): Show ATATCATATATCATATATATCATATATATCATATATATCATATATATCAT ATATATCATATATATCATATATCATATATATCATATATATCATATATATC ATATATATCATATATCATATATATCATATATATTCATATATTCATATATA TCATATATATTCATATATTCATATATATTCATATATTCATATATTCATAT ATATTCATATATATTCATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0074 a0001c0005t0010g0074	1	182	0.0055	221	c.267 others(238): Show c.267-6458_267-6457insATCATATATCATATATATCATATATATC ATATATATCATATATATCATATATATCATATATATCATATATCATATATA TCATATATATCATATATATCATATATATCATATATCATATATATCATATA TATTCATATATTCATATATATCATATATATTCATATATTCATATATATTC ATATATTCATATATTCATATATATTCATATATATTCATATATT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL24A1_chr1_85724233_86161772	85838046	T T	TAAGAATT others(214): Show TAAGAATTGACTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0210 a0003c0003t0003g0210	1	238	0.0042	221	c.368 others(238): Show c.3681+538_3681+539insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAGTCAATTCTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	43/59			chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAAG others(214): Show AAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGCAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19007.hp2 NA18998.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0001 a0001c0003t0001 a0001c0007t0001	a0001c0003t0001g0119 a0001c0007t0001g0021 a0001c0003t0001g0119 a0001c0007t0001g0021	2	344	0.0058	221	c.85- others(238): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTGC CCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45990442	A A	ATGGACGG others(214): Show ATGGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACAGCGT GAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGA TGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGAT GGACGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACAGCGTGA AGGTGACCGGGGAGGGATGGGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0123 a0002c0002t0010g0123	1	128	0.0078	221	c.100 others(236): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAA GGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGG GGAGGGACGGAGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGA CGGGGAGGGACGAGGAGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGG TGACCGGGGAGGGATGGGGTGGACGGGGAGGGACGAGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar

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