Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

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No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(227): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGAGA GGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGA GGGGGAGAGGGGGGAGGGAGAGGGGGGAGGGAGATGGACTGGGGAGGAGG GGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	298	0.0034	234	c.51+ others(247): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCCTCTCCCTCCCCCCTCTCC CCCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCC CCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCC CT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(227): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGG AGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGG GGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	298	0.0034	234	c.51+ others(247): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCC CCTCTCCTTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCCCCTCCCCC CT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(227): Show GAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGG AGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGG GGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	298	0.0034	234	c.51+ others(247): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCC CCTCTCCTTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCTCCCCCTCCCCC CT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(227): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGG AGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGG GGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	298	0.0034	234	c.51+ others(247): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCATCCCCCCTCTCC TTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCT CC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGGGAGG others(227): Show GGGGGAGGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGAGGGAGAGGGG GGAGGGGGGAGGGGGAGGGGGAGGGAGAGGGGGGATGGGGATGGGGGAGG GGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGAGGGGGGAGGG GAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGG TGGATGGACTGGGGAGGAGGTGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0230 a0001c0003t0003g0230	1	298	0.0034	234	c.51+ others(247): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCACCTCCTCCCCAGTCCATCCCCCTCCTCCCCAGTCCATCTCCCTCCCC CTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC TCCCCTCCCCCATCCCCATCCCCCCTCTCCCTCCCCCTCCCCCTCCCCCC TCCCCCCTCTCCCTCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCC CC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BBS1_chr11_66505635_66538598	66512073	T T	TGTATATG others(227): Show TGTATATGTGTATATATGTATATATATGTATATATATGTATATATATGTA TATATATGTGTATATATATGTATATATGTATATATGTGTGTATATATATG TATATATATGTATATATATGTGTATATATATGTATATATATGTATATATG TGTGTATATATATGTATATATATGTATATATGTGTGTATATATATGTATA TATATGTATATATGTGTGTATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG02630.hp2 others(2): Show HG01884.hp1 HG02572.hp2 HG02630.hp2 HG02886.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0024 a0002c0005t0004g0049 a0002c0005t0004g0050 others(1): Show a0002c0005t0004g0024 a0002c0005t0004g0049 a0002c0005t0004g0050 a0002c0005t0004g0051	5	386	0.0130	234	c.159 others(249): Show c.159+834_159+835insGTATATGTGTATATATGTATATATATGTAT ATATATGTATATATATGTATATATATGTGTATATATATGTATATATGTAT ATATGTGTGTATATATATGTATATATATGTATATATATGTGTATATATAT GTATATATATGTATATATGTGTGTATATATATGTATATATATGTATATAT GTGTGTATATATATGTATATATATGTATATATGTGTGTATATATGTATAT ATAC	BBS1	ENSG00000174483.20	transcript	ENST00000318312.12	protein_coding	3/16			chr11	TogoVar
BRSK2_chr11_1384934_1467689	1433121	A A	AGTGAGCG others(227): Show AGTGAGCGTCTTCTGCGGTCTGGTCGGTTTTGCCACTGTGCCCAGCGGTG AGCGTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGC GTCTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTC TTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTC TGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	360	0.0028	234	c.92- others(249): Show c.92-2895_92-2894insGGTTTTGCCACTGTGCCCAGCGGTGAGCGT CTTCTGCGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTT CTGCGGTCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTG CGGTCTGGTCGGGTTTTGCCACTGTGCCCAGCGGTGAGCGTCTTCTGCGG TCTGGTCGGGTTTTGCCACTGTGCTCAGCGGTGAGCGTCTTCTGCGGTCT GGTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(227): Show GTCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGATCT GTCCACCGTCACTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGAGC CGGGAGGAGGGTCCTGGGGGTCTGTCCACTGCCCCTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	234	c.-17 others(245): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGGGCCCAGCAGGGGCAGTGGACAGACCCCCAGGACCCTCCTCCC GGCTCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAG CAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGTGACGGTGGA CAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
CABLES2_chr20_62383634_62412285	62397938	A A	ATGGCGGT others(227): Show ATGGCGGTGGTGGTGATGGTGGTGACGGTGGTGATGGTGATGATGGTGAT GGTTATGGCGGTGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTGATGG CGATGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGATGGCGGTG GTGGTGATGATGGTGATGGTTATGGCGGTGGTGGTGGTGGTGACAGTGAT GGTGATGGTGGTGATGGCGATGGTGGTGGTGACGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0168 a0004c0007t0003g0168	1	400	0.0025	234	c.363 others(251): Show c.363-1347_363-1346insCCGTCACCACCACCATCGCCATCACCAC CATCACCATCACTGTCACCACCACCACCACCGCCATAACCATCACCATCA TCACCACCACCGCCATCACCACCACCACCACCACCACCACCGTCACCACC ACCATCGCCATCACCACCATCACCATCACTGTCACCACCACCACCACCGC CATAACCATCACCATCATCACCATCACCACCGTCACCACCATCACCACCA CCGCCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398109	G G	GTGGTGAT others(227): Show GTGGTGATGGTGGTGGTGGTGATGGCGGTGGTGGTGATGGTGGTGACGGT AGTGGTGGTGATGGTGGTGACAGTGGTGATGGCGGTGGTGGTGATGATGG TGATGGTTATGGCGGTGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTG ATGGCGATGGTGGTGGTGACGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	400	0.0025	234	c.363 others(251): Show c.363-1518_363-1517insTCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCGTCACCACCACCA TCGCCATCACCACCATCACCATCACTGTCACCACCACCACCACCGCCATA ACCATCACCATCATCACCACCACCGCCATCACCACTGTCACCACCATCAC CACCACTACCGTCACCACCATCACCACCACCGCCATCACCACCACCACCA TCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(227): Show TATATACATATATACGCGTATATATATGTATATACATATATACGCGTATA TATATGTATATACATATATACGCGTATATATATGTATATACATATATATA CGCGTATATATGTATATACATATATACGCGTATATATATGTATATACATA TATATACGCGTATATATGTATATACATATATATACGCGTATATATATGTA TATACATATATATACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18993.hp1 NA18969.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0119 a0001c0001t0004g0094 a0001c0001t0004g0119	2	164	0.0122	234	c.125 others(253): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATATGTATATACATATATATACGCGTATATATATGTATATACATATATAC GCGTATATATATGTATATACATATATATACGCGTATATATGTATATACAT ATATACGCGTATATATATGTATATACATATATATACGCGTATATATGTAT ATACATATATATACGCGTATATATGTATATACATATATATACGCGTATAT ATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CALY_chr10_133319072_133341896	133334249	A A	AAGGACAT others(227): Show AAGGACATGAGGGGGAAGGATCTGAAAGGCGAAGGATCTGAGGGGGGAAG GATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGA CATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGGGGGGAAGGCTCT GAGGGGGGAAGGCTCTGAAGGGGAAGCTCTGAGGGGGGAAGGATCTGAGC GGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01891.hp2 others(10): Show HG01069.hp1 HG01071.hp1 HG01891.hp2 HG02257.hp1 HG02258.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG03041.hp1 HG03130.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0063 others(7): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0084 a0001c0001t0003g0062 a0001c0001t0005g0026 a0001c0001t0005g0066 a0001c0001t0019g0064	13	250	0.0520	234	c.-21 others(251): Show c.-21+2584_-21+2585insCCCCTTCAGAGCCTTCCCCCCTCAGAGC CTTCCCCGCTCAGATCCTTCCCCCCTCAGAGCTTCCCCTTCAGAGCCTTC CCCCCTCAGAGCCTTCCCCCCTCAGATCCTTCGCCCCTCAGATCCTTCCC CCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGC TCAGATCCTTCCCCCCTCAGATCCTTCGCCTTTCAGATCCTTCCCCCTCA TGTCCT	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CALY_chr10_133319072_133341896	133334338	G G	GGGGGGGA others(227): Show GGGGGGGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGG GGCGAAGGATCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAAGGG GAAGCTCTGAGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGAAGG CTCTGAAGGGGAGGCTCTGAGGGGGGAAGGACATGAGGGAGAAGGATCTG AAAGGCGAAGGATCTGAGGGGGGAAGGATCTGAGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	250	0.0040	234	c.-21 others(251): Show c.-21+2495_-21+2496insGCTCAGATCCTTCCCCCCTCAGATCCTT CGCCTTTCAGATCCTTCTCCCTCATGTCCTTCCCCCCTCAGAGCCTCCCC TTCAGAGCCTTCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCTCA GAGCTTCCCCTTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGATC CTTCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCCCTCAGAGCCTT CCCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(227): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0293 a0002c0004t0004g0293	1	364	0.0028	234	c.234 others(251): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(227): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGAG GGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0344 a0002c0003t0001g0344	1	364	0.0028	234	c.234 others(251): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(227): Show AAGAAGAAGAAGAAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0009 a0002c0013t0009	a0002c0013t0009g0309 a0002c0013t0009g0309	1	364	0.0028	234	c.234 others(251): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCT TCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761464	G G	GAAGAGGA others(227): Show GAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAAGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGA GAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGAAGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0269 a0002c0004t0004g0269	1	364	0.0028	234	c.234 others(251): Show c.234+6843_234+6844insTCTTCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCTCCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCTCTT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(227): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCC TCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTC CTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	410	0.0024	234	c.-22 others(245): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82171017	A A	AGAATTCC others(227): Show AGAATTCCATTCACACCAAAACAGGGAGCGCTGACTGCAGTGAGGAGCCA GGGCACGTGGGCTCCGGAGGGAGCACAAGGAATTCCATTCACACCAAAAC AGGGAGCGCTGACTGCAGTGAGGAGCCAGGGCACGTGGGCTCCGGAGGGA GCACAAGGAATTCCATTCACACCAAAACAGGGAGCGCTGACTGCAGTGAG GAGCCAGGGCACGTGGGCTCCGGAGGGAGCACAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03130.hp1 HG03540.hp2 HG02809.hp1 HG03130.hp1 HG03540.hp2	a0013 a0024 a0013 a0024	a0013c0014 a0024c0018 a0013c0014 a0024c0018	a0013c0014t0001 a0024c0018t0003 a0013c0014t0001 a0024c0018t0003	a0013c0014t0001g0019 a0013c0014t0001g0020 a0024c0018t0003g0009 a0013c0014t0001g0019 a0013c0014t0001g0020 a0024c0018t0003g0009	3	252	0.0119	234	c.188 others(251): Show c.1882+683_1882+684insCTTGTGCTCCCTCCGGAGCCCACGTGCC CTGGCTCCTCACTGCAGTCAGCGCTCCCTGTTTTGGTGTGAATGGAATTC CTTGTGCTCCCTCCGGAGCCCACGTGCCCTGGCTCCTCACTGCAGTCAGC GCTCCCTGTTTTGGTGTGAATGGAATTCCTTGTGCTCCCTCCGGAGCCCA CGTGCCCTGGCTCCTCACTGCAGTCAGCGCTCCCTGTTTTGGTGTGAATG GAATTC	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	12/18			chr17	TogoVar
CCDC88A_chr2_55282842_55424856	55297340	T T	TTATATAT others(227): Show TTATATATTATATATAATATATATTATATATATTATATATAAATATATAT AATATATATTATATATAATATATATAATATATATTATATATAATATATAT TATATATAAATATATATAATATATATTATATATAATATATATTATATATA AATATATATAATATATATTATATATAATATATATTATATATAAATATATA TAATATATATTATATATAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG01891.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0015g0197 a0001c0001t0015g0198	2	316	0.0063	234	c.482 others(251): Show c.4826-818_4826-817insTTATATATAATATATATTATATATAATA TATATTATATATATTTATATATAATATATATTATATATAATATATATTAT ATATATTTATATATAATATATATTATATATAATATATATTATATATATTT ATATATAATATATATTATATATAATATATATTATATATATTATATATAAT ATATATTATATATATTTATATATAATATATATAATATATATTATATATAA TATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293558	G G	GCCTGCCA others(227): Show GCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTC CTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACA GCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0027 a0003c0003t0002g0027	1	284	0.0035	234	c.411 others(251): Show c.4112+614_4112+615insTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAA GGTGGGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAG GGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGT GGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(227): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	284	0.0035	234	c.411 others(251): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAG GTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD163L1_chr12_7349960_7449153	7421089	A A	ATATATGT others(227): Show ATATATGTATATATACGTATATATATACGTATATATGTATATATACGTAT ATATACGTATATATGTATATATACGTATATATACGTATATATGTATATAT ACGTATATATATACGTATATATGTATATATACGTATATATATACGTATAT ATGTATATATACGTATATATATACGTATATATGTATATATACGTATATAT ATACGTATATATGTATATATACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0111 a0006c0009t0001g0111	1	384	0.0026	234	c.766 others(253): Show c.766+11326_766+11327insCGTATATATATACGTATATATACATA TATACGTATATATATACGTATATATACATATATACGTATATATATACGTA TATATACATATATACGTATATATATACGTATATATACATATATACGTATA TATATACGTATATATACATATATACGTATATATACGTATATATACATATA TACGTATATATACGTATATATACATATATACGTATATATATACGTATATA TACATATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(227): Show AGGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGCGGATGGGG GCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGACGG GGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGG GAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0071 a0002c0002t0071	a0002c0002t0071g0015 a0002c0002t0071g0015	1	256	0.0039	234	c.727 others(251): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTTCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCT CCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCT CCCCTGCCCCCATCCGCTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCC CTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(227): Show AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAA GGGAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGCA GATGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGGGA GGGGGAGGGAGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGG GAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0115 a0002c0002t0115	a0002c0002t0115g0199 a0002c0002t0115g0199	1	256	0.0039	234	c.727 others(251): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGC CCCCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTT CCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CENPE_chr4_103100811_103203343	103113151	A A	AGTGTATA others(227): Show AGTGTATATATATACTTATAAGTATATAAGTGTATATATATACTTATAAG TATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATATATACT TATAAGTATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATA TATACTTATAAGTATATAAGTGTATATATATACTTATAAGTATATAAGTG TATATATAAGTGTATATATATACTTATAAGTATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA20752.hp2 HG02602.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0031 a0002c0002t0001g0022 a0002c0002t0001g0031	2	320	0.0063	234	c.754 others(253): Show c.7540+1303_7540+1304insATATACTTATAAGTATATATATACAC TTATATATACACTTATATACTTATAAGTATATATATACACTTATATACTT ATAAGTATATATATACACTTATATACTTATAAGTATATATATACACTTAT ATACTTATAAGTATATATATACACTTATATACTTATAAGTATATATATAC ACTTATATACTTATAAGTATATATATACACTTATATACTTATAAGTATAT ATATACAC	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CFAP46_chr10_132803392_132947570	132888710	G G	GCACCTGC others(227): Show GCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCGCCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCC TGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCAC CCCTGCCGCCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCTG CCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0007 a0012c0025t0002g0007	1	246	0.0041	234	c.330 others(253): Show c.3305-2752_3305-2751insAAGGCGGCAGGGGTGAAGGTGGCAGG TGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAG GCGGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGC AGGGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTG CAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGT GGCAGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20296070	T T	TCCCTCCC others(227): Show TCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTC CCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCT CCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCC CTCCCTTCCTTCCCATCCCCCTTCCCTCCCTCCTTCCTTCCTGCCTTCCT TCCTTCCCTCCATCCTTCCTTCCTTCCTTTCTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02895.hp2 HG02897.hp2 HG01884.hp1 HG02895.hp2 HG02897.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0043 a0001c0001 a0005c0043	a0001c0001t0005 a0005c0043t0003 a0001c0001t0005 a0005c0043t0003	a0001c0001t0005g0126 a0001c0001t0005g0129 a0005c0043t0003g0156 a0001c0001t0005g0126 a0001c0001t0005g0129 a0005c0043t0003g0156	3	236	0.0127	234	c.321 others(253): Show c.3217-2111_3217-2110insCCCTCCCTCCCTACCTCCCTCCCTCC TTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCT CCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCC TCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCCCATCCCCCTTCCCT CCCTCCTTCCTTCCTGCCTTCCTTCCTTCCCTCCATCCTTCCTTCCTTCC TTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20296070	T T	TCCCTCCC others(227): Show TCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTC CCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCT CCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCC CTCCCTTCCTTCCCATCCTCCTTCCCTCCCTCCTTCCTTCCTGCCTTCCT TCCTTCCCTCCATCCTTCCTTCCTTCCTTTCTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(58): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02257.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02965.hp1 HG03017.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp1 NA18955.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18981.hp2 NA19007.hp1 NA19010.hp2 NA19070.hp1 NA19081.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0012 a0015 a0016 a0025 a0026	a0001c0001 a0001c0003 a0001c0007 others(9): Show a0001c0001 a0001c0003 a0001c0007 a0001c0015 a0002c0002 a0002c0004 a0004c0008 a0012c0019 a0015c0047 a0016c0033 a0025c0028 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0007t0002 a0001c0015t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0006 a0004c0008t0001 a0012c0019t0003 a0015c0047t0002 a0016c0033t0001 a0025c0028t0001 a0026c0030t0002	a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0079 others(58): Show a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0177 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0002g0091 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0235 a0001c0001t0003g0092 a0001c0001t0003g0095 a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0001t0004g0010 a0001c0001t0005g0171 a0001c0001t0006g0019 a0001c0003t0001g0096 a0001c0003t0001g0214 a0001c0003t0002g0112 a0001c0007t0002g0077 a0001c0007t0002g0222 a0001c0007t0002g0231 a0001c0007t0002g0232 a0001c0015t0002g0233 a0002c0002t0001g0064 a0002c0002t0001g0111 a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0002g0081 a0002c0002t0002g0103 a0002c0002t0002g0155 a0002c0002t0003g0066 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0118 a0002c0002t0004g0012 a0002c0002t0005g0108 a0002c0002t0005g0114 a0002c0004t0001g0065 a0002c0004t0001g0205 a0002c0004t0001g0215 a0002c0004t0001g0219 a0002c0004t0002g0087 a0002c0004t0004g0017 a0002c0004t0006g0020 a0004c0008t0001g0055 a0012c0019t0003g0120 a0015c0047t0002g0168 a0016c0033t0001g0026 a0025c0028t0001g0100 a0026c0030t0002g0056	61	236	0.2585	234	c.321 others(253): Show c.3217-2111_3217-2110insCCCTCCCTCCCTACCTCCCTCCCTCC TTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCT CCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCC TCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCCCATCCTCCTTCCCT CCCTCCTTCCTTCCTGCCTTCCTTCCTTCCCTCCATCCTTCCTTCCTTCC TTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFAP97D2_chr13_114174257_114228085	114198668	T T	TGAGGGGT others(227): Show TGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGAC AGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCC GTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGT CCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGG CGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02145.hp1 HG03490.hp2 others(7): Show HG00673.hp1 HG02145.hp1 HG03490.hp2 HG03492.hp1 NA18612.hp1 NA18953.hp1 NA19001.hp1 NA19004.hp1 NA19058.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0265 a0001c0001t0004g0007 a0001c0001t0004g0008 others(6): Show a0001c0001t0001g0265 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0248 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0262 a0001c0001t0004g0263	10	400	0.0250	234	c.172 others(251): Show c.172-1653_172-1652insGGTGACGGCGCGTCCCCGTGGGTACGGT CCCCACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGG CGTGACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGC GTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGG TACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCG CCGAGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198733	G G	GTACGGTC others(227): Show GTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	400	0.0025	234	c.172 others(251): Show c.172-1589_172-1588insGGTCCCCGCTGAGGCGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTAC GGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGT GCTTAC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114200087	T T	TGTCCCCG others(227): Show TGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTAACAGGGCGTCCCCTCGC GTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTATGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGCTTATGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18992.hp2 HG02273.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0345 a0001c0001t0006g0010 a0001c0001t0006g0345	2	400	0.0050	234	c.172 others(249): Show c.172-179_172-178insCGCTGAGGCGTGACGGCGCGTCCCCGTGCT TATGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCTTATGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGCTGAGGCGTAACAGGGCGTCCCCTCGCGTACGG TCCC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114200141	G G	GGTCCCCG others(227): Show GGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTATGGTCCCCGCTG AGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCTTATGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCC CCGCTGAGGCGTAACAGGGCGTCCCCTCGCGTACC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03834.hp1 NA18999.hp2 others(1): Show HG00642.hp2 HG03834.hp1 NA18999.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0010 a0001c0001t0006g0033	4	400	0.0100	234	c.172 others(249): Show c.172-179_172-178insCGCTGAGGCGTGACGGCGCGTCCCCGTGCT TATGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCTTATGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGCTGAGGCGTAACAGGGCGTCCCCTCGCGTACCG TCCC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFI_chr4_109735695_109806999	109753058	A A	ATTATATA others(227): Show ATTATATAAATAAATATTTATAATATATATTTATTATATAAATAAATATT TATAATATATATTTATTATATATTTATATATAATAAATATTTATAATATA TATTTATTATATAAACAAATATTTATAATATATATTTATTATATAAACAA ATATTTATAATATATATTTATTATATAAACAAATATTTATAATATATATT TATTATATAAATAAATATTTATAATATATATTTAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	354	0.0028	234	c.905 others(249): Show c.905-556_905-555insATAAATATATATTATAAATATTTATTTATA TAATAAATATATATTATAAATATTTGTTTATATAATAAATATATATTATA AATATTTGTTTATATAATAAATATATATTATAAATATTTGTTTATATAAT AAATATATATTATAAATATTTATTATATATAAATATATAATAAATATATA TTATAAATATTTATTTATATAATAAATATATATTATAAATATTTATTTAT ATAA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CIP2A_chr3_108544864_108594438	108575568	A A	ACTCATAT others(227): Show ACTCATATACATGTGTATATACACACGTATACTCATATACATGTGTATAT ACACACGTATACTCATATACATGTGTATATACACACGTATACTCATATAC ATGTGTATATACACACGTATACTCATATACATGTGTATATACACACGTAT ACTCATATACATGTGTATATACACACGTATACTCATATACATGTGTATAT ACACACGTATACTCATATACATGTGTATATACACG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0290 a0005c0006t0007g0290	1	372	0.0027	234	c.894 others(249): Show c.894+702_894+703insCGTGTATATACACATGTATATGAGTATACG TGTGTATATACACATGTATATGAGTATACGTGTGTATATACACATGTATA TGAGTATACGTGTGTATATACACATGTATATGAGTATACGTGTGTATATA CACATGTATATGAGTATACGTGTGTATATACACATGTATATGAGTATACG TGTGTATATACACATGTATATGAGTATACGTGTGTATATACACATGTATA TGAG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLCN5_chrX_49917596_50104230	50057374	G G	GGTCCTGG others(227): Show GGTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCCAGG ACTCTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCCA GGACTGTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATC CAGGACTGTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTA TCCAGGACTGTCCTGGATAGATACTATCCAGGACT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0018 a0001c0003t0003g0018	1	175	0.0057	234	c.164 others(253): Show c.164-12479_164-12478insGTCCTGGATAGATACTATCCAGGACT CTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCCAGGA CTGTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTGTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTATCC AGGACTGTCCTGGATAGATACTATCCAGGACTGTCCTGGATAGATACTAT CCAGGACT	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNTNAP2_chr7_146111801_148425998	148331768	T T	TGGATGGA others(227): Show TGGATGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGATGGAGTG GATGGATGGAATGGACGGATGGAGTCGATGGATGGAGTGGATGGATGGAA TGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGAATGGACGGATGG AGTGGATGGATGGAGTGGATGGATGGAACGGACGGATGGAATGGATGGAT GGGGTAGACGGATGGAGTGGACAGGTGGAATGGAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG03225.hp2 HG02486.hp2 HG02886.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0011 a0001c0003t0013 a0001c0018t0002 a0001c0003t0011 a0001c0003t0013 a0001c0018t0002	a0001c0003t0011g0023 a0001c0003t0013g0010 a0001c0018t0002g0012 a0001c0003t0011g0023 a0001c0003t0013g0010 a0001c0018t0002g0012	3	40	0.0750	234	c.347 others(255): Show c.3476-51874_3476-51873insGTGGATGGATGGAATGGACGGATG GAGTGGATGGATGGAGTGGATGGATGGAATGGACGGATGGAGTCGATGGA TGGAGTGGATGGATGGAATGGACGGATGGAGTGGATGGATGGAGTGGATG GATGGAATGGACGGATGGAGTGGATGGATGGAGTGGATGGATGGAACGGA CGGATGGAATGGATGGATGGGGTAGACGGATGGAGTGGACAGGTGGAATG GACGGATGGA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(227): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTG CGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAG TGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGT GCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0022 a0022	a0022c0034 a0022c0034	a0022c0034t0001 a0022c0034t0001	a0022c0034t0001g0248 a0022c0034t0001g0248	1	290	0.0035	234	c.-11 others(249): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGAGTGTGGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGT GGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTG GGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTG GGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294179	G G	GAGGGGGA others(227): Show GAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGA GGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAG GGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGGA GGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGG AGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGGAGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	290	0.0035	234	c.-11 others(249): Show c.-11+904_-11+905insAGGGGGAGTGCGGGGGAGGGGGAGTGCGGG GGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGG GAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGG GAGGGGAGTGCGGGGGGGAGGGGGGAGTGCAGGGGAGCGGAGTGTGGGGG AAGGGGGAGTGCGGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGG GAGT	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35			chr20	TogoVar
COL23A1_chr5_178232618_178595393	178547928	C C	CACCCACA others(227): Show CACCCACACCCACCCCCCACACACACCCACACACCTACACCCACCCATAC ACACATCCCACACGCACACTTACACCCACACCCACCCCCCACACACACCC ACACACCTACACCCACCCATACACACATCCCACACGCACACTTACACCCA CACCCACCCCCCACACACACCCACACACCTACACCCACATACCCACACCC ACCCCCCACACACACCCACACACCTACACCCACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01934.hp1 NA20805.hp2 HG00280.hp1 HG01934.hp1 NA20805.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0007 a0004c0011 a0002c0002 a0003c0007 a0004c0011	a0002c0002t0001 a0003c0007t0001 a0004c0011t0001 a0002c0002t0001 a0003c0007t0001 a0004c0011t0001	a0002c0002t0001g0026 a0003c0007t0001g0012 a0004c0011t0001g0093 a0002c0002t0001g0026 a0003c0007t0001g0012 a0004c0011t0001g0093	3	236	0.0127	234	c.361 others(253): Show c.361+12753_361+12754insATGTGGGTGTAGGTGTGTGGGTGTGT GTGGGGGGTGGGTGTGGGTATGTGGGTGTAGGTGTGTGGGTGTGTGTGGG GGGTGGGTGTGGGTGTAAGTGTGCGTGTGGGATGTGTGTATGGGTGGGTG TAGGTGTGTGGGTGTGTGTGGGGGGTGGGTGTGGGTGTAAGTGTGCGTGT GGGATGTGTGTATGGGTGGGTGTAGGTGTGTGGGTGTGTGTGGGGGGTGG GTGTGGGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A3_chr2_227159624_227319792	227202888	T T	TGTATATA others(227): Show TGTATATATACGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATACATATATGTGTATATATA CGTATATATACATATATGTGTATATATACGTATATATACATATATGTGTA TATATACATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0016 a0004c0003t0004g0028 a0004c0003t0004g0016 a0004c0003t0004g0028	2	344	0.0058	234	c.88- others(251): Show c.88-35080_88-35079insGTATATATACGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATAT ATACATATATGTGTATATATACGTATATATACATATATGTGTATATATAC GTATATATACATATATGTGTATATATACATATATGTGTATATATGTGTAT ATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATACA others(227): Show TATATACATATATGTGTATATATACATATATGTGTATATATGTGTATATA TACATATATACATATATGTGTATATATACGTATATATACATATATGTGTA TATATACGTATATATACATATATGTGTATATATACATATATGTGTATATA TGTGTATATATACATATATGTGTATATATACATATATGTGTATATATACA TATATGTGTATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0129 a0004c0003t0004g0129	1	344	0.0029	234	c.88- others(251): Show c.88-34851_88-34850insCATATATGTGTATATATACATATATGTG TATATATGTGTATATATACATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATACATATATGTGTATATATA CATATATGTGTATATATGTGTATATATACATATATGTGTATATATACATA TATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATA CATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPNE4_chr3_131528569_132040014	131792708	C C	CGTGTATA others(227): Show CGTGTATATATATACATATATACACACGTGTATATATATACATATATACA CACGTGTATATATATACATATATACACACGTGTATATATATACATATATA CACACGTGTATATATATACATATATACACACGTGTATATATATACATATA TACACACGTGTATATATATACATATATACACACGTGTATATATATACATA TATACACACGTGTATATATGTATATATATACACGT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0064 a0001c0001t0008g0064	1	94	0.0106	234	c.181 others(253): Show c.181-69084_181-69083insACGTGTATATATATACATATATACAC GTGTGTATATATGTATATATATACACGTGTGTATATATGTATATATATAC ACGTGTGTATATATGTATATATATACACGTGTGTATATATGTATATATAT ACACGTGTGTATATATGTATATATATACACGTGTGTATATATGTATATAT ATACACGTGTGTATATATGTATATATATACACGTGTGTATATATGTATAT ATATACAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978460	A A	ATATATTT others(227): Show ATATATTTATATATATTTATATATATTTATATATATTTATATATATTTAT ATATTTATATATATTTATATATTTATATATATTTATATATATATTTATAT ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATTTATATATTTAT ATATATTTATATATATTTATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	94	0.0106	234	c.-2+ others(251): Show c.-2+56106_-2+56107insAATATATATAAATATATAAATATATATA AATATATATAAATATATAAATATATATAAATATATATAAATATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATAAATATATA TAAATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(227): Show GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGC CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0148 a0003c0006t0003g0148	1	348	0.0029	234	c.928 others(249): Show c.928-433_928-432insACAGATACACGGCCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREG1_chr1_167536013_167558762	167536857	T T	TAAAATTT others(227): Show TAAAATTTCATTGAGGGTCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAG GCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG02922.hp2 HG02572.hp1 HG02886.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0067 a0001c0001t0002g0023 a0001c0001t0002g0067	3	418	0.0072	234	c.54 others(245): Show c.5440_*5441insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG CCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACCCTCAATGAAATTTT	CREG1	ENSG00000143162.9	transcript	ENST00000370509.5	protein_coding		4155		chr1	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(227): Show ATATATATATATATATATATATTTCTATATATATATATATATATATTTCT ATATATATATATATATATATTTCTATATATATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	370	0.0027	234	c.56 others(245): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATTTCTATATATATATATATATATATTTCTATATATATATA TATATATATTTCTATATATATATATATTTCTATATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(227): Show ATATATATATATATATATATTTCTATATATATATATATATATATTTCTAT ATATATATATATATATATTTCTATATATATATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATATTTCTATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	370	0.0027	234	c.56 others(245): Show c.5645_*5646insTATATATATATATATATATTTCTATATATATATA TATATATATTTCTATATATATATATATATATATTTCTATATATATATATA TATATATATTTCTATATATATATATATTTCTATATATATATATATTTCTA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(227): Show ATATATATGTGTGTATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATGTGTATATATATATATATATATATATATGTGTAT ATATATATATATATATATGTGTATATATATATATATATATATATGTGTAT ATATATATATATATATATATATGTGTATATATATATATATATATATATAT ATATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0107 a0002c0002t0107	a0002c0002t0107g0194 a0002c0002t0107g0194	1	334	0.0030	234	c.290 others(249): Show c.290-150_290-149insTATATGTGTGTATATATATATATATATATA TATATATGTGTATATATATATATATATATATATGTGTATATATATATATA TATATATATATGTGTATATATATATATATATATATGTGTATATATATATA TATATATATATGTGTATATATATATATATATATATATATGTGTATATATA TATATATATATATATATATATGTGTATATATATATATATATATATATATA TGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(227): Show ATATATGTGTGTATATATATATATATATATATATATATGTGTATATATAT ATATATATATATATATGTGTATATATATATATATATATATGTGTATATAT ATATATATATATGTGTATATATATATATATATATATATGTGTATATATAT ATATATATATATATATATATGTGTATATATATATATATATATATATATAT GTGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0166 a0002c0002t0165 a0001c0001t0166 a0002c0002t0165	a0001c0001t0166g0239 a0002c0002t0165g0240 a0001c0001t0166g0239 a0002c0002t0165g0240	2	334	0.0060	234	c.290 others(249): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATATGTGTATATATATATATATATATATATATGTGTATATATATATATA TATATATGTGTATATATATATATATATATGTGTATATATATATATATATA TATATGTGTATATATATATATATATATATATATATATGTGTATATATATA TATATATATATATATATGTGTATATATATATATATATATATATATATATA TGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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