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
CASQ2_chr1_115695021_115773714	115761479	A A	AGGAGGAA others(212): Show AGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAG AAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAA GGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0181 a0001c0002t0003g0181	1	364	0.0028	219	c.234 others(236): Show c.234+6828_234+6829insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCT CCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(212): Show TCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGATCCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATC CTCTGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTG CTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCTCA CCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	284	0.0035	219	c.151 others(236): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTGAGGAGC AGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGG GTCAGGGTGGACCTCTGACATGGCTGGAGGTCAGGAGCAGAGGATCAGGG TGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGATCAGGGTGGACCT CTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(212): Show TCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGGCCCTCTGCTCCTGACCTGCAGCCATATCAAAGGGCCACCCTGACC CTCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGACCCTCTG CTCCTCACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGA CCTCCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	284	0.0035	219	c.151 others(236): Show c.151+1501_151+1502insCCCTTTGATATGGCTGGAGGTCAGGAGC AGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAGCAGAGGGT CAGGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGG TGGCCCTTTGATATGGCTGCAGGTCAGGAGCAGAGGGCCAGGGTGGACCT CTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975168	T T	TCTCTGCT others(212): Show TCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGC TCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTCAC CTGCAGCCATATCAAAGGGCCACCCTGACCCTCTCTGCTCCTGACCTCCA GCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCAT GTCAGAGGTCCACCCTGATC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	284	0.0035	219	c.151 others(236): Show c.151+1488_151+1489insGATCAGGGTGGACCTCTGACATGGCTGC AGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGGAGGTC AGGAGCAGAGAGGGTCAGGGTGGCCCTTTGATATGGCTGCAGGTGAGGAG CAGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGA TCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975168	T T	TCTCTGCT others(212): Show TCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGC TCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGAC CTGCAGCCATATCAAAGGGCCACCCTGACCCTCTCTGCTCCACATCTTTA GCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCAT GTCAGAGGTCCACCCTGATC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	284	0.0035	219	c.151 others(236): Show c.151+1488_151+1489insGATCAGGGTGGACCTCTGACATGGCTGC AGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTAAAGATG TGGAGCAGAGAGGGTCAGGGTGGCCCTTTGATATGGCTGCAGGTCAGGAG CAGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGA TCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975168	T T	TCTCTGCT others(212): Show TCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGC TCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGAC CTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCACATCTTTA GCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCAT GTCAGAGGTCCACCCTGATC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	284	0.0035	219	c.151 others(236): Show c.151+1488_151+1489insGATCAGGGTGGACCTCTGACATGGCTGC AGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTAAAGATG TGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAG CAGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGA TCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975228	C C	CAGCCATG others(212): Show CAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTCACCTGCAGCCAT GTCAGAGGTCCACCCTGATCCTCTGCTCCTCACCTGCAGCCATATCAAAG GGCCACCCTGACCCTCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCA CCCTGATCCTCTGCTCCTCACCTGCAGCCATATCAAAGGGCCACCCTGAC CCTCTCTGCTCCACATCTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	284	0.0035	219	c.151 others(236): Show c.151+1428_151+1429insAAAGATGTGGAGCAGAGAGGGTCAGGGT GGCCCTTTGATATGGCTGCAGGTGAGGAGCAGAGGATCAGGGTGGACCTC TGACATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGGTGGCCCTTTGATA TGGCTGCAGGTGAGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGC AGGTGAGGAGCAGAGGGCCAGGGTGGACCTCTGACATGGCT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(212): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	410	0.0024	219	c.-22 others(230): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(212): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCC CCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTC CCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	410	0.0024	219	c.-22 others(230): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC77_chr12_396644_447642	419976	A A	AAACACAC others(212): Show AAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGC TCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA CACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01346.hp2 HG02486.hp2 others(4): Show HG01192.hp1 HG01346.hp2 HG02486.hp2 HG02723.hp1 HG02896.hp1 HG03041.hp1 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0147 a0001c0001t0001g0211 a0001c0001t0001g0270 others(4): Show a0001c0001t0001g0147 a0001c0001t0001g0211 a0001c0001t0001g0270 a0003c0003t0001g0095 a0003c0003t0001g0318 a0003c0003t0001g0413 a0003c0003t0001g0415	7	432	0.0162	219	c.413 others(236): Show c.413+1342_413+1343insCACACATAGCAGCACACTCCATGCTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420424	T T	TACACATA others(212): Show TACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAC	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	219	c.413 others(236): Show c.413+1802_413+1803insCCTCCATGTTCCATTACAGTGCACTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCC ATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCAC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCR6_chr6_167118096_167144141	167130979	C C	CTCCCTCC others(212): Show CTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCC CTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTC CGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGG CCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCTGGGACC CCTCCCTCTAGGACCCCCCT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0106 a0001c0002t0002g0106	1	460	0.0022	219	c.-97 others(236): Show c.-97-5053_-97-5052insCGGGACTCCTCCCTCTGGGCCCCCCTCC CTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCT GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCTGGGACCCCTCCCTCTAGGACCCCCCTTCCCTC	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(212): Show TTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAA TACTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTAT TTAAATACTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAAT AGTATTTAAATACTATTTAAATAGTATTTAAATAGTATTTAAATACTATT TAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0307 a0001c0025t0002g0307	1	384	0.0026	219	c.125 others(236): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATACTATTTAAATAGTATTTAAATACTATTTAAAT ACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATACTATT TAAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAATA GTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(212): Show TTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTAT TTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAAT ACTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATT TAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18984.hp1 NA19068.hp1 NA18951.hp2 NA18984.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0249 a0001c0002t0001g0303 a0001c0002t0001g0304	3	384	0.0078	219	c.125 others(236): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATTTAAAT ACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATAGTATT TAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATA GTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGAAGG others(212): Show AGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGG GAGCAGATGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGG GGAGGGGGAGGGAGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGAC GGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGGAGGGGAAGGGGAGG GGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0014 a0001c0001t0089g0014	1	256	0.0039	219	c.727 others(236): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTTCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCT CCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCT CCCCTGCCCCCATCCACTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCC TCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDK14_chr7_90591321_91215590	91027847	C C	CCCTCTCC others(212): Show CCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCC CCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCC CTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTC CCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCC CCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA21309.hp2 HG00738.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0005g0007 a0001c0001t0001g0005 a0001c0001t0005g0007	2	168	0.0119	219	c.104 others(240): Show c.1042-18014_1042-18013insCCCTCTCCTCTCCCCTCCCCTCCC CTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCC CCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCC CTCCCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP46_chr10_132803392_132947570	132887524	C C	CCTCTCTC others(212): Show CCTCTCTCCTCTCCTCTCTTCTCTCCTCTCCCTTCTTCTCTCTCCTCTCC TCTCCCCTCTTCTCTCCTCTCCCTTCTTCTCTCTCCTCTCCTCTCTCCTC TTCTCTCCTCTCCCTTCTTCTCTCTCCTCTCCTCTCTCCTCTTTCACCTC TCTCTCTCCTCTCCTCTCTCTCTCCTCTCCTCTCTCTCTCCGCTCCTCTC TCTCTCCTCTCCCCTCTTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0172 a0009c0018t0001g0172	1	246	0.0041	219	c.330 others(238): Show c.3305-1566_3305-1565insAGAAGAGGGGAGAGGAGAGAGAGAGG AGCGGAGAGAGAGAGGAGAGGAGAGAGAGAGGAGAGGAGAGAGAGAGGTG AAAGAGGAGAGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAGAAGAGGAG AGAGGAGAGGAGAGAGAAGAAGGGAGAGGAGAGAAGAGGGGAGAGGAGAG GAGAGAGAAGAAGGGAGAGGAGAGAAGAGAGGAGAGGAGAGAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20358211	G G	GAGGGAAG others(212): Show GAGGGAAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTG TGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGTGAGGGGAGGTGGGCACACTGTGAGGGGTGGTAGTCACA CTGAGAGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	236	0.0042	219	c.351 others(238): Show c.3514-1999_3514-1998insAGGGAAGGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCATAGTGTGAGGAGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGGCA CACTGTGAGGGGTGGTAGTCACACTGAGAGGAGGTGGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20358211	G G	GAGGGAAG others(212): Show GAGGGAAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGTGAGGGGAGGTGGGCACACTGTGAGGGGTGGTAGTCACA CTGAGAGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0215 a0002c0004t0001g0215	1	236	0.0042	219	c.351 others(238): Show c.3514-1999_3514-1998insAGGGAAGGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC AGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGGCA CACTGTGAGGGGTGGTAGTCACACTGAGAGGAGGTGGTCACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP74_chr1_1916957_2008786	1980094	G G	GTGTATCT others(212): Show GTGTATCTAAGCCACCGGCACAGATCGCAGTGGGCGCCCTCTTACCGCGT GGGGAGGACGGGTGAACGAGAGACTGTATCTAAGCCACCGGCACAGATCG CAGTGGGCGCCCTCTTACCGCGTGGGGAGGACGGGTGAACGAGAGACTGT ATCTAAGCCACCGGCACAGATCGCAGTGGGCGCCCTCTTACCGCGTGGGG AGGACGGGTGAACGAGAGAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0009 a0009	a0009c0049 a0009c0049	a0009c0049t0001 a0009c0049t0001	a0009c0049t0001g0229 a0009c0049t0001g0229	1	278	0.0036	219	c.500 others(236): Show c.500+5073_500+5291dupGTCTCTCGTTCACCCGTCCTCCCCACGC GGTAAGAGGGCGCCCACTGCGATCTGTGCCGGTGGCTTAGATACAGTCTC TCGTTCACCCGTCCTCCCCACGCGGTAAGAGGGCGCCCACTGCGATCTGT GCCGGTGGCTTAGATACAGTCTCTCGTTCACCCGTCCTCCCCACGCGGTA AGAGGGCGCCCACTGCGATCTGTGCCGGTGGCTTAGATACA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(212): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTT AATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp2 HG02486.hp2 others(4): Show HG00597.hp1 HG01069.hp2 HG02486.hp2 NA18946.hp2 NA18967.hp2 NA19003.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0013 a0001c0001t0002g0255 a0001c0001t0004g0012 a0001c0001t0002g0013 a0001c0001t0002g0255 a0001c0001t0004g0012	7	402	0.0174	219	c.80- others(234): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATA TATAAAATATTTTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLEC18A_chr16_69946334_69968986	69966143	G G	GGGTAAAC others(212): Show GGGTAAACTGTTCTCATCCGGAGTATGTCCCTCAGTCTGTAAAAGTCCAT GGTGCCCTACATCTATTAGGGGAGTGAGGAAGGGCAGTGGGCATTGGATC TGCTTCTTTGAAAGCCCCCACCTGTGTTTAGCTTCTGTTAGAGGCCTTTG AACCAGAGCAACTCCATCTTGAGTAGGCGCTGGGTAAAATGAGGCTGAGA CCTACTGGGCTGTGTTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0023 a0023	a0023c0034 a0023c0034	a0023c0034t0013 a0023c0034t0013	a0023c0034t0013g0186 a0023c0034t0013g0186	1	379	0.0026	219	c.25 others(230): Show c.2532_*2533insGGTAAACTGTTCTCATCCGGAGTATGTCCCTCAG TCTGTAAAAGTCCATGGTGCCCTACATCTATTAGGGGAGTGAGGAAGGGC AGTGGGCATTGGATCTGCTTCTTTGAAAGCCCCCACCTGTGTTTAGCTTC TGTTAGAGGCCTTTGAACCAGAGCAACTCCATCTTGAGTAGGCGCTGGGT AAAATGAGGCTGAGACCTACTGGGCTGTGTTCCCA	CLEC18A	ENSG00000157322.18	transcript	ENST00000288040.11	protein_coding		2158		chr16	TogoVar
CLEC18B_chr16_74403631_74426478	74406262	C C	CACCTGGG others(212): Show CACCTGGGAACACAGCCCAGTAGGTCTCAGCCTCATTTTACCCAGCGCCT ACTCAAGAAGGAGTTGCTCTGGTTCAAAGGCCTCTAACAGAAGCTAAACA CAGGTGGGGGCTTCCAAAGAAGCAGATCCAATGCCCACTGCCCTTCCTCA CTCCCCTAATAGATGTAGGGCACCATGGACTTTTACAGACTGAGGGACAT ACTCTGGATGAGAATAGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02622.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	2	287	0.0070	219	c.27 others(230): Show c.2743_*2744insAAACTATTCTCATCCAGAGTATGTCCCTCAGTCT GTAAAAGTCCATGGTGCCCTACATCTATTAGGGGAGTGAGGAAGGGCAGT GGGCATTGGATCTGCTTCTTTGGAAGCCCCCACCTGTGTTTAGCTTCTGT TAGAGGCCTTTGAACCAGAGCAACTCCTTCTTGAGTAGGCGCTGGGTAAA ATGAGGCTGAGACCTACTGGGCTGTGTTCCCAGGT	CLEC18B	ENSG00000140839.13	transcript	ENST00000682950.1	protein_coding		2368		chr16	TogoVar
CLEC18B_chr16_74403631_74426478	74406262	C C	CACCTGGG others(212): Show CACCTGGGAACACAGCCCAGTAGGTCTCAGCCTCATTTTACCCAGCGCCT ACTCAAGATGGAGTTGCTATGGTTCAAAGGCCTCTAACAGAAGCTAAACA CAGGTGGGGGCTTTCAAAGAAGCAGATCCAATGACCACTGCCCTTCCTCA CTCCCCTAATAGATGTAGGGCACCATGGACTTTTACAGACTGAGGGACAT ACTCTGGATGAGAATAGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01255.hp1 HG01256.hp1 others(41): Show HG00408.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02135.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02602.hp1 HG02622.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG03471.hp2 HG03492.hp2 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18949.hp2 NA18969.hp2 NA18972.hp1 NA18978.hp1 NA18981.hp1 NA18985.hp2 NA18995.hp1 NA19000.hp2 NA19010.hp1 NA19055.hp1 NA19072.hp1 NA19079.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0002 a0013c0013 a0014c0021 a0001c0002 a0013c0013 a0014c0021	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0013c0013t0003 a0014c0021t0003	a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 others(9): Show a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0003g0001 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0005g0035 a0001c0002t0005g0103 a0013c0013t0003g0117 a0014c0021t0003g0120	44	287	0.1533	219	c.27 others(230): Show c.2743_*2744insAAACTATTCTCATCCAGAGTATGTCCCTCAGTCT GTAAAAGTCCATGGTGCCCTACATCTATTAGGGGAGTGAGGAAGGGCAGT GGTCATTGGATCTGCTTCTTTGAAAGCCCCCACCTGTGTTTAGCTTCTGT TAGAGGCCTTTGAACCATAGCAACTCCATCTTGAGTAGGCGCTGGGTAAA ATGAGGCTGAGACCTACTGGGCTGTGTTCCCAGGT	CLEC18B	ENSG00000140839.13	transcript	ENST00000682950.1	protein_coding		2368		chr16	TogoVar
CLEC18B_chr16_74403631_74426478	74406262	C C	CACCTGGG others(212): Show CACCTGGGAACACAGCCCAGTAGGTCTCAGCCTCATTTTACCCAGCGCCT ACTCAAGATGGAGTTGCTCTGGTTCAAAGGCCTCTAACAGAAGCTAAACA CAGGTGGGGGCTTCCAAAGAAGCAGATCCAATGCCCACTGCCCTTCCTCA CTCCCCTAATAGATGTAGGGCACCATGGACTTTTACAGACTGAGGGACAT ACTCTGGATGAGAATAGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00673.hp2 others(62): Show HG00597.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03490.hp2 HG03669.hp1 HG03831.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18977.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18997.hp2 NA18998.hp1 NA19011.hp1 NA19043.hp2 NA19057.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19077.hp1 NA19081.hp1 NA19087.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0003c0004 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0006t0001 a0001c0006t0002 a0003c0004t0001 a0009c0019t0001	a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0058 others(39): Show a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0002t0001g0006 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0003g0116 a0001c0006t0001g0017 a0001c0006t0001g0032 a0001c0006t0001g0101 a0001c0006t0002g0129 a0001c0006t0002g0130 a0003c0004t0001g0085 a0009c0019t0001g0102	65	287	0.2265	219	c.27 others(230): Show c.2743_*2744insAAACTATTCTCATCCAGAGTATGTCCCTCAGTCT GTAAAAGTCCATGGTGCCCTACATCTATTAGGGGAGTGAGGAAGGGCAGT GGGCATTGGATCTGCTTCTTTGGAAGCCCCCACCTGTGTTTAGCTTCTGT TAGAGGCCTTTGAACCAGAGCAACTCCATCTTGAGTAGGCGCTGGGTAAA ATGAGGCTGAGACCTACTGGGCTGTGTTCCCAGGT	CLEC18B	ENSG00000140839.13	transcript	ENST00000682950.1	protein_coding		2368		chr16	TogoVar
CLEC18B_chr16_74403631_74426478	74406295	G G	GATTTTAC others(212): Show GATTTTACCCAGCGCCTACTCAAGATGGAGTTGCTCTGGTTCAAAGGCCT CTAACAGAAGCTAAACACAGGTGGGGGCTTCCAAAGAAGCAGATCCAATG CCCACTGCCCTTCCTCACTCCCCTAATAGATGTAGGGCACCATGGACTTT TACAGACTGAGGGACATACTCTGGATGAGAATAGTTTACCTGGGAACACA GCCCAGTAGGTCTCAGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	287	0.0035	219	c.27 others(230): Show c.2710_*2711insGAGGCTGAGACCTACTGGGCTGTGTTCCCAGGTA AACTATTCTCATCCAGAGTATGTCCCTCAGTCTGTAAAAGTCCATGGTGC CCTACATCTATTAGGGGAGTGAGGAAGGGCAGTGGGCATTGGATCTGCTT CTTTGGAAGCCCCCACCTGTGTTTAGCTTCTGTTAGAGGCCTTTGAACCA GAGCAACTCCATCTTGAGTAGGCGCTGGGTAAAAT	CLEC18B	ENSG00000140839.13	transcript	ENST00000682950.1	protein_coding		2335		chr16	TogoVar
CLEC18B_chr16_74403631_74426478	74406476	T T	TAGTTTAC others(212): Show TAGTTTACCTGGGAACACAGCCCAGTAGGTCTCAGCCTCATTTTACCCAG CGCCTACTCAAGATGGAGTTGCTCTGGTTCAAAGGCCTCTAACAGAAGCT AAACACAGGTGGGGGCTTTCAAAGAAGCAGATCCAATGCCCACTGCCCTT CCTCACTCCCCTAATAGATGTAGGGCACCATGGACTTTTACAGACTGAGG GACATACTCCGGATGAGAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01167.hp1 HG01167.hp2 others(10): Show HG00408.hp2 HG01167.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG02523.hp1 HG02572.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG06807.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0014 a0001c0001 a0001c0002 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0010c0014t0001	a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0009g0108 a0001c0001t0010g0115 a0001c0002t0001g0054 a0001c0002t0001g0090 a0010c0014t0001g0089	13	287	0.0453	219	c.25 others(230): Show c.2529_*2530insGTTCTCATCCGGAGTATGTCCCTCAGTCTGTAAA AGTCCATGGTGCCCTACATCTATTAGGGGAGTGAGGAAGGGCAGTGGGCA TTGGATCTGCTTCTTTGAAAGCCCCCACCTGTGTTTAGCTTCTGTTAGAG GCCTTTGAACCAGAGCAACTCCATCTTGAGTAGGCGCTGGGTAAAATGAG GCTGAGACCTACTGGGCTGTGTTCCCAGGTAAACT	CLEC18B	ENSG00000140839.13	transcript	ENST00000682950.1	protein_coding		2154		chr16	TogoVar
CLIC5_chr6_45893456_46020860	45904647	C C	CCTCCCTC others(212): Show CCTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCC TCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTTTT CTGTCCCTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCC CTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCT CCTTCTCTCCTTCCCTCCTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19004.hp2 NA18747.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0268 a0001c0001t0001g0163 a0001c0001t0001g0268	2	340	0.0059	219	c.589 others(236): Show c.589-1393_589-1392insAAGGAGGGAAGGAGAGAAGGAGGGAGGG AGGGAAGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAAGGAG AGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAGGGACAGAAAAGAGG GAGGGAGGGAAGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGA AGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAG	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	5/5			chr6	TogoVar
CLSTN1_chr1_9723926_9828965	9762597	C C	CCACTCGG others(212): Show CCACTCGGCCTTGGTGCCCACACTCAACGGCTCCGCTCCACTCGGCCTTG GTGCCCACACTCAACGGCTCCGCTCCACTCGGCCTTGGTGCCCGCACTCA ACGGCTCTGCTGCACTCGGCCTTGGTGCCCGCACTCAACGGCTGGGTGTC CGGGCTGTCCCTGACGTTGGGTGACCTCTGGCTTTCTTGCCAAGCAGCGA CTATCCACTTGTCCCCGCTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp2 HG01243.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0266 a0001c0006t0009g0267 a0001c0006t0009g0266 a0001c0006t0009g0267	2	270	0.0074	219	c.215 others(236): Show c.215-6088_215-6087insCAGCGGGGACAAGTGGATAGTCGCTGCT TGGCAAGAAAGCCAGAGGTCACCCAACGTCAGGGACAGCCCGGACACCCA GCCGTTGAGTGCGGGCACCAAGGCCGAGTGCAGCAGAGCCGTTGAGTGCG GGCACCAAGGCCGAGTGGAGCGGAGCCGTTGAGTGTGGGCACCAAGGCCG AGTGGAGCGGAGCCGTTGAGTGTGGGCACCAAGGCCGAGTG	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	2/18			chr1	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(212): Show CGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCGGGGGGGAGGGGGAGTGCGGGGGGAAGGGGGAG TGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGGAGTGCGGGGGGAGGGGG AGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGG CTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0128 a0001c0001t0039g0128	1	290	0.0035	219	c.-11 others(234): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGGAGGGGGAGTGCG GGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGGAGT GCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTG CGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL27A1_chr9_114150537_114317511	114278455	A A	ATGATGGT others(212): Show ATGATGGTGGTGGTGATGGTGGGGGTGGGGGTGGTGGTGATAGTGGTGAT GATAATGATGATGATGGGGCACTGATGATGGTGGTGGTGATGGTGGGGGT GGGGGTGGTGGTGATAGTGGTGATGATAATGATGATGATGGGGCACTGAT GATGGTGGTGGTGATGGTGGGGGTGGGGGTGGTGGTGATAGTGGTGATGA TAATGATGATGATGGGGCAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG01192.hp1 HG02055.hp1	a0001 a0022 a0001 a0022	a0001c0120 a0022c0178 a0001c0120 a0022c0178	a0001c0120t0001 a0022c0178t0022 a0001c0120t0001 a0022c0178t0022	a0001c0120t0001g0041 a0022c0178t0022g0210 a0001c0120t0001g0041 a0022c0178t0022g0210	2	308	0.0065	219	c.371 others(238): Show c.3717+2708_3717+2709insGGGTGGGGGTGGTGGTGATAGTGGTG ATGATAATGATGATGATGGGGCACTGATGATGGTGGTGGTGATGGTGGGG GTGGGGGTGGTGGTGATAGTGGTGATGATAATGATGATGATGGGGCACTG ATGATGGTGGTGGTGATGGTGGGGGTGGGGGTGGTGGTGATAGTGGTGAT GATAATGATGATGATGGGGCACTGATGGTGGTGGTGATGGTGG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A1_chr13_110143963_110312157	110255543	A A	AAGGAAGG others(212): Show AAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAG GGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18970.hp2 NA19074.hp2 HG00408.hp1 NA18970.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0079 a0002c0004 a0001c0003 a0001c0079 a0002c0004	a0001c0003t0001 a0001c0079t0001 a0002c0004t0001 a0001c0003t0001 a0001c0079t0001 a0002c0004t0001	a0001c0003t0001g0059 a0001c0079t0001g0121 a0002c0004t0001g0236 a0001c0003t0001g0059 a0001c0079t0001g0121 a0002c0004t0001g0236	3	344	0.0087	219	c.85- others(236): Show c.85-12810_85-12809insGCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGC CTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A6_chr3_130512177_130682042	130636805	C C	CCCTTCCT others(212): Show CCCTTCCTCCTCCCCTCCCCCTCCCCTTCCTCCCCCCTTCCTCCCCTTCC CCTTCCTCCCCCTCCCCCTCCCCTTCCCCTTCCTCCCCCCTTCCTCCCCT TCCCCTTCCTCCCCCCTTCCTCCCCCTCCCCCTCCCCTTCCCCTTCCTCC CCCCTTCCTCCCCTTCCCCTTCCTCCCCCCTTCCTCCCCCTCCCCCTCCC CTTCCCCTTCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0039 a0039	a0039c0043 a0039c0043	a0039c0043t0003 a0039c0043t0003	a0039c0043t0003g0143 a0039c0043t0003g0143	1	264	0.0038	219	c.509 others(238): Show c.5091+1047_5091+1048insTCCTCCTCCCCTCCCCCTCCCCTTCC TCCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCTCCCCCTCCCCTTCCCCT TCCTCCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCCTTCCTCCCCCTCCC CCTCCCCTTCCCCTTCCTCCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCC TTCCTCCCCCTCCCCCTCCCCTTCCCCTTCCTCCCCCCTTCCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(212): Show CACCCCCCACCACAGTGCTCCACCCCCCACCACAGTCCCCCACCCCCCAC CCCAGTCCCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCC ACCCCCTACCACAGTCCCCCACCCCCTACCACAGTCCCCCAACCCCCACC ACAGTCCCCCACCCCCACCACAGTTCGCCAACCCCCATGACAGTCCCTCA ACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp2 HG01175.hp1 others(31): Show HG00741.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG02109.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0011 a0019	a0002c0008 a0002c0015 a0002c0021 others(10): Show a0002c0008 a0002c0015 a0002c0021 a0002c0023 a0002c0036 a0002c0048 a0002c0049 a0002c0050 a0003c0025 a0004c0014 a0011c0054 a0011c0055 a0019c0031	a0002c0008t0001 a0002c0008t0006 a0002c0015t0001 others(13): Show a0002c0008t0001 a0002c0008t0006 a0002c0015t0001 a0002c0021t0002 a0002c0021t0003 a0002c0021t0004 a0002c0023t0001 a0002c0036t0004 a0002c0048t0005 a0002c0049t0002 a0002c0050t0001 a0003c0025t0001 a0004c0014t0001 a0011c0054t0001 a0011c0055t0001 a0019c0031t0002	a0002c0008t0001g0105 a0002c0008t0001g0142 a0002c0008t0001g0144 others(27): Show a0002c0008t0001g0105 a0002c0008t0001g0142 a0002c0008t0001g0144 a0002c0008t0001g0149 a0002c0008t0001g0151 a0002c0008t0001g0338 a0002c0008t0001g0339 a0002c0008t0001g0343 a0002c0008t0001g0345 a0002c0008t0001g0346 a0002c0008t0006g0146 a0002c0008t0006g0344 a0002c0015t0001g0004 a0002c0021t0002g0342 a0002c0021t0003g0143 a0002c0021t0004g0340 a0002c0023t0001g0148 a0002c0023t0001g0150 a0002c0036t0004g0092 a0002c0048t0005g0341 a0002c0049t0002g0145 a0002c0050t0001g0147 a0003c0025t0001g0138 a0004c0014t0001g0015 a0004c0014t0001g0104 a0004c0014t0001g0106 a0004c0014t0001g0107 a0011c0054t0001g0093 a0011c0055t0001g0158 a0019c0031t0002g0103	34	412	0.0825	219	c.128 others(234): Show c.1287+69_1287+70insCACCACAGTGCTCCACCCCCCACCACAGTC CCCCACCCCCCACCCCAGTCCCCAAACCCCTACCACAGTCCCCCAACCCC ACCACAGTCCCCCACCCCCTACCACAGTCCCCCACCCCCTACCACAGTCC CCCAACCCCCACCACAGTCCCCCACCCCCACCACAGTTCGCCAACCCCCA TGACAGTCCCTCAACCCCCACCACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(212): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTG TATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	372	0.0027	219	c.-70 others(228): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCC CGGCTAATTTTTGTATTTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
DCDC2C_chr2_3698575_3853008	3725406	A A	AGAGGGAG others(212): Show AGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGAT CCCGGAGGGAGATGAGCAGG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18965.hp2 NA18969.hp1 others(5): Show NA18952.hp2 NA18965.hp2 NA18969.hp1 NA18995.hp1 NA19003.hp1 NA19063.hp2 NA19088.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0002t0004 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003	a0001c0002t0004g0265 a0002c0003t0001g0210 a0002c0003t0001g0215 others(5): Show a0001c0002t0004g0265 a0002c0003t0001g0210 a0002c0003t0001g0215 a0002c0003t0001g0239 a0002c0003t0002g0209 a0002c0003t0003g0211 a0002c0003t0003g0214 a0002c0003t0003g0220	8	324	0.0247	219	c.340 others(236): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCTGGAG GGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGAC GAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725483	A A	AAGACGAG others(212): Show AAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGACC GCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGG AGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCTGGAGGG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0299 a0001c0001t0006g0299	1	324	0.0031	219	c.340 others(236): Show c.340-1493_340-1492insAGGTGGATCCTGGAGGGAGACCGCCAGA GTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAG GAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGG TGGATCCTGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725555	C C	CGGTGGAT others(212): Show CGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGA GACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGC AGAGAGGGAGGAGGCTGCCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0010 a0002c0003t0005g0010	1	324	0.0031	219	c.340 others(236): Show c.340-1438_340-1437insGGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCA GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGA GGGAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2B_chr12_50499985_50753657	50593784	C C	CCTCCCCT others(212): Show CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	284	0.0035	219	c.101 others(238): Show c.101-32191_101-32190insTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	516808	G G	GGGGGGGA others(212): Show GGGGGGGACACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGG GACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACG GGGTAGGGTGGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTA GGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGG GGGGGGACAGGGGGTAGGGT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0042 a0001c0002t0003g0042	1	88	0.0114	219	c.86- others(236): Show c.86-30279_86-30278insACCCTACCCCCTGTCCCCCCCCACCCTA CCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGT GTCCCCCCCCACCCTACCCCGTGTCCCCCCCCCACCCTACCCCGTGTCCC CCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCA CCCTACCCCCTGTCCCCCCCCACCCTACCCCGTGTCCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608582	C C	CACACACA others(212): Show CACACACACACCCCCCCCCACACACACACCCCCCCCACACACACACACCC CCCCCCACACACACACCCCCACACACACACACACCCCCCCCCACACACAC ACCCCCCACACACACACACACATCCCCCCCCACACACACACACATCCCCC CCCACACACACACACATCCCCCCCCACACACACACACATCCCCCCCCACA CACACACACATCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0037	1	88	0.0114	219	c.85+ others(236): Show c.85+80911_85+80912insTGGGGGGGGATGTGTGTGTGTGTGGGGG GGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATG TGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGTGGGGGGTGTGTGTGT GGGGGGGGGTGTGTGTGTGTGTGGGGGTGTGTGTGTGGGGGGGGGTGTGT GTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1641934	T T	TCCAACCC others(212): Show TCCAACCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCA CCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTCACCCTCGAACC CGCCGGCTCTCACCTGTGTCACCCTCCAACCCCGCCGGCCCTCACCTGTG TCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGG CCCTCACCTGTGTCACCCTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	219	c.181 others(238): Show c.1810+8889_1810+8890insCAACCCGCCGGCCCTCACCTGTGTCA CCCTCGAACCCGCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCGGCCC TCACCTGTGTCACCCTCGAACCCGCCGGCTCTCACCTGTGTCACCCTCCA ACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCCGGCCCTCACCT GTGTCACCCTCCAACCCGCCGGCCCTCACCTGTGTCACCCTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400154	C C	CCACCACC others(212): Show CCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACC ACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACC ATCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0001 a0004c0041t0001	a0004c0041t0001g0246 a0004c0041t0001g0246	1	256	0.0039	219	c.323 others(238): Show c.3234+1004_3234+1005insACCTCCACCATCACCACCTCCTTCAC CATCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCA CCAGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCAC CACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400785	C C	CCACCATC others(212): Show CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCAT CACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCA CCATCACCACAACATCCACCACCACCATCACCACCACCACCACCACCTCC TCCACCATCACCACCTCCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0016 a0016	a0016c0071 a0016c0071	a0016c0071t0002 a0016c0071t0002	a0016c0071t0002g0104 a0016c0071t0002g0104	1	256	0.0039	219	c.323 others(238): Show c.3234+1542_3234+1543insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCT CCACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGC TCCTTCACCATCACCACAACATCCACCACCACCATCACCACCACCACCAC CACCTCCTCCACCATCACCACCTCCTTCACCATCACCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(212): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT TATATATATAATATATATATAATATATATATTATATATAATATATATATA TAATATATATATTATATATATATAATATATATATAATATATATATTTAAA AGTATATATATATTTAAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	298	0.0034	219	c.554 others(236): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATTATATATATAATATATATATAATATATATATTATATA TAATATATATATATAATATATATATTATATATATATAATATATATATAAT ATATATATTTAAAAGTATATATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(212): Show ATATATATATAGTGTATATATAGTATATATATAGTATATATATACTATAT ATATAGTATATATATAGTATATATATACTATATATATAGTGTATATATAT AGTATATATATATAGTATATATAGTATATATATAGTGTATATATATAGTG TGTATATATAGTATATATATAGTATATATATATAGTATATATATATAGTA TATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0074 a0001c0001t0050g0074	1	316	0.0032	219	c.355 others(238): Show c.355-25603_355-25602insGTATATATAGTATATATATAGTATAT ATATACTATATATATAGTATATATATAGTATATATATACTATATATATAG TGTATATATATAGTATATATATATAGTATATATAGTATATATATAGTGTA TATATATAGTGTGTATATATAGTATATATATAGTATATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYM_chr18_49031387_49465645	49440586	T T	TATATGAC others(212): Show TATATGACTATATATTATATATTTATATATGACTATATATTATATATATA ATATATGACTATATATTATATATATATAACATATGACTATATATTATATA TATATAACATATGACTATATATTATATATATATAACATATGACTATATAT TATATATATATAACATATGACTATATATTATATATATATAACATATGACT ATATATTATATATATATAAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0259 a0001c0001t0005g0259	1	290	0.0035	219	c.-53 others(238): Show c.-53-10140_-53-10139insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATATA ATATATAGTCATATGTTATATATATATAATATATAGTCATATATTATATA TATAATATATAGTCATATATAAATATATAATATATAGTCATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440646	T T	TATATGAC others(212): Show TATATGACTATATATTATATATTTATATAATATATGACTATATATTATAT ATTTATATATGACTATATATTATATATATAATATATGACTATATATTATA TATATAACATATGACTATATATTATATATATATAACATATGACTATATAT TATATATATATAACATATGACTATATATTATATATATATAACATATGACT ATATATTATATATATATAAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 NA18971.hp1 HG01516.hp2 HG01517.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0075 a0001c0001t0003g0099 a0001c0001t0003g0104	3	290	0.0103	219	c.-53 others(238): Show c.-53-10200_-53-10199insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATAAT ATATAGTCATATATTATATATATAATATATAGTCATATATAAATATATAA TATATAGTCATATATTATATAAATATATAATATATAGTCATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440676	T T	TATATGAC others(212): Show TATATGACTATATATTATATATTTATATAATATATGACTATATATTATAT ATTTATATATGACTATATATTATATATATAATATATGACTATATATTATA TATATAACATATGACTATATATTATATATATATAACATATGACTATATAT TATATATATATAACATATGACTATATATTATATATATATAACATATGACT ATATATTATATATATATAAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	290	0.0035	219	c.-53 others(238): Show c.-53-10230_-53-10229insGTTATATATATATAATATATAGTCAT ATGTTATATATATATAATATATAGTCATATGTTATATATATATAATATAT AGTCATATGTTATATATATATAATATATAGTCATATGTTATATATATAAT ATATAGTCATATATTATATATATAATATATAGTCATATATAAATATATAA TATATAGTCATATATTATATAAATATATAATATATAGTCATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNLT2B_chr3_196286219_196323240	196317513	C C	CTTACAAA others(212): Show CTTACAAACCTAGCTGAGTACCCTCTGCTCTGGCCCGTGAGCCTGACATT TTTGATAGGAATATTTGCATTGAACTTCTAAGTGAAATAAACTTCTGTCA TCACAAACTAATGACATTTGAGGGAGGTATGCTAATGCTAATCCAAATAA TATCTGTACTTTTTTCACAATGAATGTGATAAACTGCAGTATCTAAATCA AAGTATATATGCATTATTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	330	0.0030	219	c.113 others(234): Show c.113+526_113+527insAAAATAATGCATATATACTTTGATTTAGAT ACTGCAGTTTATCACATTCATTGTGAAAAAAGTACAGATATTATTTGGAT TAGCATTAGCATACCTCCCTCAAATGTCATTAGTTTGTGATGACAGAAGT TTATTTCACTTAGAAGTTCAATGCAAATATTCCTATCAAAAATGTCAGGC TCACGGGCCAGAGCAGAGGGTACTCAGCTAGGTTTGTAA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar

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