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

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(345): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	360	0.0028	352	c.92- others(369): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(345): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGTGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0002 a0001c0001t0028 a0002c0002t0002	a0001c0001t0028g0332 a0001c0001t0028g0333 a0002c0002t0002g0169 a0001c0001t0028g0332 a0001c0001t0028g0333 a0002c0002t0002g0169	3	360	0.0083	352	c.92- others(369): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG TGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCC CCGCTGGGCGTTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423826	A A	AGGCCTCC others(345): Show AGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC GTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGC CTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTC CGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCC CCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG TGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCG CTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCC CCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0203 a0001c0001t0003g0002 a0001c0001t0003g0203	3	360	0.0083	352	c.92- others(369): Show c.92-12200_92-12199insGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCGGGCCTCCCCCGCTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C1orf159_chr1_1076823_1121089	1080820	G G	GGTCCCTG others(345): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCATC TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01928.hp2 HG01496.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0198 a0001c0001t0001g0085 a0001c0001t0001g0198	2	326	0.0061	352	c.20 others(363): Show c.2072_*2073insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1002		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(345): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCATC TCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	326	0.0031	352	c.19 others(363): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C4orf50_chr4_5954375_6023431	6004539	G G	GTGATGAT others(345): Show GTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATATT GATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGAT GGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGG TGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGATGACGGTGATGGTGA TGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0081 a0081	a0081c0097 a0081c0097	a0081c0097t0000 a0081c0097t0000	a0081c0097t0000g0209 a0081c0097t0000g0209	1	346	0.0029	352	c.963 others(369): Show c.963+3456_963+3457insTCATCACCATCACCGTCATCATCACCAT CACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCA CTATCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCAT CACATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCAT CACCATCACCATCATAACTATCACCATCATCACCATCATCACCATCACAT CATCACCATCACCATCATCACCATCAATATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(345): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02559.hp2 HG02622.hp1 others(1): Show HG00597.hp1 HG02559.hp2 HG02622.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0082 a0001c0001t0001g0119 a0001c0002t0001g0083 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0119 a0001c0002t0001g0083 a0001c0003t0001g0077	4	166	0.0241	352	c.198 others(371): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(345): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	166	0.0060	352	c.198 others(371): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185756	G G	GGCGTGCG others(345): Show GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGA GTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0228 a0001c0040t0001g0228	1	338	0.0030	352	c.300 others(369): Show c.300-9215_300-9214insCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNB4_chr2_151827771_152104044	151875697	C C	CGGGGCGG others(345): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGCTGACCCCCCACCTCCCTCCCGGACGGGGCGTCTCGCCTGGCGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCC GGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0044	a0001c0006t0044g0033 a0001c0006t0044g0033	1	230	0.0044	352	c.521 others(367): Show c.521+728_521+729insCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCAGGCGAGACGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CALHM5_chr6_116506639_116529788	116522977	T T	TAAAATGT others(345): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18945.hp1 NA19003.hp1 NA18945.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0155 a0001c0001t0147 a0001c0001t0155	a0001c0001t0147g0002 a0001c0001t0155g0002 a0001c0001t0147g0002 a0001c0001t0155g0002	2	402	0.0050	352	c.70 others(363): Show c.7004_*7005insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATGTGGATTGCTG	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	7005	INFO_REALIGN_3_PRIME	chr6	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(345): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGG AGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0102	1	386	0.0026	352	c.803 others(366): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(345): Show TGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTG GGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTGG GGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	408	0.0025	352	c.178 others(367): Show c.178-380_178-379insCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(345): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTG GGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTGG GGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19043.hp2 HG03942.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0059 a0001c0001t0015g0060 a0001c0001t0002g0059 a0001c0001t0015g0060	2	408	0.0049	352	c.178 others(367): Show c.178-380_178-379insCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCNC_chr6_99537387_99573660	99550659	A A	ATAATCTA others(345): Show ATAATCTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	410	0.0024	352	c.438 others(367): Show c.438+333_438+334insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGATAGATTA	CCNC	ENSG00000112237.13	transcript	ENST00000520429.6	protein_coding	7/11			chr6	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(345): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0261 a0002c0003t0003g0261	1	424	0.0024	352	c.774 others(367): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK19_chr6_110604978_110820469	110666104	C C	CAAAGAAT others(345): Show CAAAGAATCTTACAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGATTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	300	0.0033	352	c.456 others(369): Show c.456+1329_456+1330insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAATCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAACTGTAAGATTCTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	4/12			chr6	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(345): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02976.hp2 HG03516.hp2 HG02622.hp1 HG02976.hp2 HG03516.hp2	a0001 a0009 a0012 a0001 a0009 a0012	a0001c0009 a0009c0016 a0012c0060 a0001c0009 a0009c0016 a0012c0060	a0001c0009t0039 a0009c0016t0071 a0012c0060t0017 a0001c0009t0039 a0009c0016t0071 a0012c0060t0017	a0001c0009t0039g0137 a0009c0016t0071g0133 a0012c0060t0017g0038 a0001c0009t0039g0137 a0009c0016t0071g0133 a0012c0060t0017g0038	3	334	0.0090	352	c.-25 others(363): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(345): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0098 a0002c0002t0003g0098	1	334	0.0030	352	c.-25 others(363): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(345): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	334	0.0030	352	c.-25 others(363): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(345): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0201 a0002c0002t0003g0201	1	334	0.0030	352	c.-25 others(363): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065194	A A	ATAGTATT others(345): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0040 a0002c0012t0040	a0002c0012t0040g0214 a0002c0012t0040g0214	1	334	0.0030	352	c.-26 others(363): Show c.-2678_-2677insCCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTA ATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAAT ACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATAC TATCACCTCTTAATACTA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2329		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	440	0.0023	352	c.12 others(363): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTAGATG TATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTAGATAGATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	440	0.0023	352	c.12 others(363): Show c.1214_*1215insTATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATATAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATCTATC TAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTATATAGATATATAGATACATCT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	440	0.0023	352	c.12 others(363): Show c.1214_*1215insTATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATC TAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	440	0.0023	352	c.12 others(363): Show c.1214_*1215insTATAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(345): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03942.hp2 HG03688.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0002 a0001c0001t0002 a0001c0016t0002	a0001c0001t0002g0004 a0001c0016t0002g0049 a0001c0001t0002g0004 a0001c0016t0002g0049	2	440	0.0046	352	c.12 others(363): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CEP72_chr5_607340_658553	631011	G G	GCCGGGAT others(345): Show GCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTG GCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGACCAGTCCTG GTGGGGTTCTGTCCAGTGTCGGGATTTGACCCAGTCCTGGTGGGGTGCTG TCCAGTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGG GATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGTCGGGATTTGACCCA GTCCTGGTGGGGTGCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGTGGG GTTCTGTCCAGTGCTGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAG TGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	91	0.0110	352	c.513 others(369): Show c.513-2757_513-2756insCGGGATTTAGACCAGTCCTGGTGGGGTT CTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGC CGGGATTTGGACCAGTCCTGGTGGGGTTCTGTCCAGTGTCGGGATTTGAC CCAGTCCTGGTGGGGTGCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGT GGGGTTCTGTCCAGTGCTGGGATTTGACCCAGTCCTGGTGGGGTTCTGTC CAGTGTCGGGATTTGACCCAGTCCTGGTGGGGTGCTGTCCAGTGCCGGGA TTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGGATTTGACCCAGT CCTGGTGGGGTTCTGTCCAGTGCC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHM_chrX_85856180_86052558	85911163	G G	GTGTGTAT others(345): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATAT GAATATATATATATGAATATATATATATGAATATATATATGAATATATAT ATATGAATATATATATATGAATATATATATATGAATATATATATGAATAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	245	0.0041	352	c.124 others(367): Show c.1244+97_1244+98insTTCATATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATTCATATATATA TATTCATATATATATATTCATATATATATATTCATATATATATTCATATA TATATATTCATATATATATATTCATATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CLASRP_chr19_45034045_45075956	45038561	T T	TAAAAAAT others(345): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA19010.hp2 NA20300.hp1 HG04199.hp2 NA19010.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0129 a0001c0001t0001g0174 a0001c0001t0001g0011 a0001c0001t0001g0129 a0001c0001t0001g0174	3	364	0.0082	352	c.-57 others(361): Show c.-577_-576insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding		483		chr19	TogoVar
CLEC10A_chr17_7069537_7085251	7077305	T T	TCCATCAG others(345): Show TCCATCAGTGCCCCCTCACCATTCCCATCAATCACTCCATCAGTGCCCCC TCACCATTCCCATCAATCACTCCATCAGTGCTCCGACCACTGTTCTCATC AATCACTCCATCAGTGCCCCCCACTATTCCCATCAGTCACCCCATCAGTG CTCCCATCACCATTCCCATCAATCACTCCATCAGTGCTCCGACCACTGTT CTCATCAATCACTCCATCAGTGCCCCCCACTATTCCCATCAGTCACCCCA TCAGTGCTCCCATCACCATTCCCATCAATCACTCCATCAGTGCTCCGACC ACTGTTCTCATCAATCACTCCATCAGTGCCCCCCACTATTCCCATCAGTC ACC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp2 NA21309.hp2 HG03098.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0085 a0001c0002t0001g0038 a0001c0002t0001g0085	3	458	0.0066	352	c.185 others(367): Show c.185-319_185-318insGGTGACTGATGGGAATAGTGGGGGGCACTG ATGGAGTGATTGATGAGAACAGTGGTCGGAGCACTGATGGAGTGATTGAT GGGAATGGTGATGGGAGCACTGATGGGGTGACTGATGGGAATAGTGGGGG GCACTGATGGAGTGATTGATGAGAACAGTGGTCGGAGCACTGATGGAGTG ATTGATGGGAATGGTGATGGGAGCACTGATGGGGTGACTGATGGGAATAG TGGGGGGCACTGATGGAGTGATTGATGAGAACAGTGGTCGGAGCACTGAT GGAGTGATTGATGGGAATGGTGAGGGGGCACTGATGGAGTGATTGATGGG AATGGTGAGGGGGCACTGATGG	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(345): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGCA GGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCC AGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCA GGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGG GAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0058 a0002c0012t0004g0058	1	292	0.0034	352	c.106 others(371): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCA GGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCC AGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCA GGACCCGGCGGCCCAGGGGAGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178395071	C C	CGTCCTCC others(345): Show CGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp2	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0003 a0003c0005 a0011c0013 a0002c0003 a0003c0005 a0011c0013	a0002c0003t0002 a0003c0005t0003 a0011c0013t0005 a0002c0003t0002 a0003c0005t0003 a0011c0013t0005	a0002c0003t0002g0140 a0003c0005t0003g0156 a0011c0013t0005g0132 a0002c0003t0002g0140 a0003c0005t0003g0156 a0011c0013t0005g0132	3	236	0.0127	352	c.362 others(371): Show c.362-88153_362-88152insAGCCGGGGCCGGAACCAAGCCTGGAC GTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGA CTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGA GAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGAC AGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCC CAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACGGCCGGGGCCGG AACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGC CCGCCGGGGAGAGACTCTCGGAGGAC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178395180	C C	CGGCGGGC others(345): Show CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATT CGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTC CGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCT CCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTC CCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	236	0.0042	352	c.362 others(371): Show c.362-88262_362-88261insAGGGAGAGACTCTCGGAGGACAGCCG GGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAG CGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCA AGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCC GGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTT TGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTC TCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAG CCGAATGCCCAGAGCGCCTGCCCGCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178395247	C C	CGTCCTCC others(345): Show CGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCT CTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGA GTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAA CGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGG CGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTG GTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCT CTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCG GCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01358.hp2 HG01433.hp1 others(4): Show HG01106.hp1 HG01358.hp2 HG01433.hp1 HG01952.hp1 HG02129.hp2 HG03516.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005 a0005c0008	a0001c0001t0004 a0001c0004t0005 a0002c0002t0001 others(2): Show a0001c0001t0004 a0001c0004t0005 a0002c0002t0001 a0003c0005t0003 a0005c0008t0002	a0001c0001t0004g0035 a0001c0004t0005g0105 a0002c0002t0001g0015 others(4): Show a0001c0001t0004g0035 a0001c0004t0005g0105 a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0101 a0003c0005t0003g0010 a0005c0008t0002g0024	7	236	0.0297	352	c.362 others(371): Show c.362-88329_362-88328insAGCCGGGGCCGGAACCAAGCCTGGAC GTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCAGGGAGAGA CTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGA GAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGAC AGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCC CAGAGCGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGG AACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGC CCGCCGGGGAGAGACTCTCGGAGGAC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178395532	C C	CGGCGGGC others(345): Show CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATT CGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTC CGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCT CCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTC CCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp1 HG00639.hp2 HG01256.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0063 a0002c0002t0001g0082 a0001c0001t0004g0063 a0002c0002t0001g0082	2	236	0.0085	352	c.362 others(371): Show c.362-88614_362-88613insAGGGAGAGACTCTCGGAGGACAGCCG GGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAG CGCCTGCCCGCCGGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCA AGCCTGGACGTTTGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCC GGGGAGAGACTCTCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTT TGGAGCTGAGAGCCGAATGCCCAGAGCGCCTGCCCGCCGGGGAGAGACTC TCGGAGGACAGCCGGGGCCGGAACCAAGCCTGGACGTTTGGAGCTGAGAG CCGAATGCCCAGAGCGCCTGCCCGCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL9A1_chr6_70211126_70308084	70249172	T T	TCCACTGA others(345): Show TCCACTGAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp1 HG01346.hp2 others(4): Show HG00099.hp2 HG01175.hp1 HG01346.hp2 HG01433.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0029 a0003c0003t0001g0042 a0003c0003t0001g0094 others(4): Show a0003c0003t0001g0029 a0003c0003t0001g0042 a0003c0003t0001g0094 a0003c0003t0001g0114 a0003c0003t0002g0043 a0003c0003t0002g0046 a0003c0003t0002g0060	7	362	0.0193	352	c.187 others(371): Show c.1872+2947_1872+2948insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATCTTCAGTGG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	28/37			chr6	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(345): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp1 HG01517.hp2 others(10): Show HG01123.hp2 HG01515.hp1 HG01517.hp2 HG02572.hp1 HG03139.hp1 HG03579.hp2 HG03669.hp1 NA18975.hp1 NA18995.hp2 NA19003.hp2 NA19088.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0170 a0001c0001t0003g0046 a0001c0001t0003g0212 a0001c0001t0003g0221 a0001c0001t0003g0319	13	448	0.0290	352	c.51+ others(367): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287061	A A	ACTATGTA others(345): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATG	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18906.hp1 HG02056.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0006 a0001c0001t0002 a0002c0002t0006	a0001c0001t0002g0113 a0002c0002t0006g0077 a0001c0001t0002g0113 a0002c0002t0006g0077	2	448	0.0045	352	c.51+ others(367): Show c.51+2300_51+2301insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287075	G G	ATAGCATG others(345): Show ATAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACAT ACTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAG CATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTA TGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATG TATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTA TATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGTATA CTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTATATC ATG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	448	0.0022	352	c.51+ others(367): Show c.51+2287_51+2288insATGATATACATAGTATGTAGTATACATGCT ACATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTAT GTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACAT GATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAG TATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATA TACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTATA CATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATATACA TAGTATGTAGTATACATGCTAT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287076	T T	TAGCATGT others(345): Show TAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATA CTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGC ATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTAT GTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGT ATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTAT ATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGTATAC TACATACTATGTATATCATGCAGCATGTATACTACATACTATGTATATCA TGC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0201 a0001c0001t0004g0201	1	448	0.0022	352	c.51+ others(367): Show c.51+2285_51+2286insGCATGATATACATAGTATGTAGTATACATG CTGCATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGT ATGTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTAC ATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGT AGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGA TATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTA TACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATATA CATAGTATGTAGTATACATGCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287108	T T	TAGCATGT others(345): Show TAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATA CTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGC ATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTAT GTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGT ATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTAT ATCATGTAGCATGTATACTACATACTATGTATATCATGCAGCATGTATAC TACATACTATGTATATCATGCAGCATGTATACTACATACTATGTATATCA TGC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	448	0.0022	352	c.51+ others(367): Show c.51+2253_51+2254insGCATGATATACATAGTATGTAGTATACATG CTGCATGATATACATAGTATGTAGTATACATGCTGCATGATATACATAGT ATGTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTAC ATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGT AGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGA TATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTA TACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATATA CATAGTATGTAGTATACATGCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CREB3L2_chr7_137869979_138007086	137946852	T T	TTATATAT others(345): Show TTATATATATAGTTATATATATATAGTTATATATATAGTTATGTATATAT AGTTATATATATAGTTATGTATATATAGTTATATATATAGTTATATATAT ATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATAT ATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTAT ATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTT ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0031 a0001c0001t0016g0031	1	288	0.0035	352	c.103 others(371): Show c.103-18487_103-18486insTAACTATATATATAACTATATATATA TAACTATATATATAACTATATATATATAACTATATATATAACTATATATA TATAACTATATATATAACTATATATATATAACTATATATATAACTATATA TATATAACTATATATATAACTATATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATATATAACTATATATATAACTA TATATATATAACTATATATATAACTATATATATATAACTATATATATAAC TATATATACATAACTATATATATAACTATATATACATAACTATATATATA ACTATATATATATAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946864	T T	TTATATAT others(345): Show TTATATATATATAGTTATATATATAGTTATATATATAGTTATATATATAG TTATATATATATATAGTTATATATATAGTTATATATATAGTTATATATAT ATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATAT ATATATAGTTATCTATATAGTTATATATATATAGTTATCTATATAGTTAT ATATATATAGTTATCTATATAGTTATATATATATAGTTATCTATATAGTT ATATATATATAGTTATATATATAGTTATATATATATAGTTATATATATAG TTA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	288	0.0035	352	c.103 others(371): Show c.103-18499_103-18498insTAACTATATATATAACTATATATATA TAACTATATATATAACTATATATATATAACTATATAGATAACTATATATA TATAACTATATAGATAACTATATATATATAACTATATAGATAACTATATA TATATAACTATATAGATAACTATATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATATATAACTATATATATAACTA TATATATATAACTATATATATAACTATATATATATAACTATATATATAAC TATATATATAACTATATATATATATAACTATATATATAACTATATATATA ACTATATATATAACTATATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CROCC2_chr2_240901336_240998311	240924215	A A	ACGCAGTC others(345): Show ACGCAGTCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACA CTGACCCGGCCCCCAACACTAACCCAGCCCCCCACACTAACCCAGTCCCC ACACTAACCCGGCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCC CCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCG GCCCCCCACACTAACCCGGCCCCCCACACTGACCCAGTCCCCACACTAAC CCGGCCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACT AAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0106 a0012c0013t0001g0106	1	350	0.0029	352	c.489 others(369): Show c.489-1508_489-1507insGCAGTCCCCCACACTAACCCAGTCCCCC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCAACACTAACCCAGCCC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCAGT CCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCG GCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACT GACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCAC ACTGACCCGGCCCCCACACTAACC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647496	T T	TTGTCCTC others(345): Show TTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCCCTCCTCCTCCACAC CCCTTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCCCTCCTCCTCAC CCCTTCTCCTCTCCACATCCCTCCTCCTCACCCCTCCTCCTCCACACCCC TTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACA CCCCTTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCCCTCCTCCTCA CCCCTTCTCCTCTCCACATCCCTCCTCCTCACCCCTCCTCCTCCACACCC CTTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCAC ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02615.hp1 HG01346.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0136 a0002c0002t0012g0138 a0002c0002t0012g0136 a0002c0002t0012g0138	2	276	0.0073	352	c.53 others(363): Show c.5356_*5357insTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCC CCTCCTCCTCCACACCCCTTGTCCTCCTCCACACCCCTCCTCTGCCTCAC CCCCCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTCCTCACCCCT CCTCCTCCACACCCCTTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCC TCCTCCTCCTCCACACCCCTTGTCCTCCTCCACACCCCTCCTCTGCCTCA CCCCCCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTCCTCACCCC TCCTCCTCCACACCCCTTGTCCTCCTCCACACCCCTCCTCTGCCTCACCC CTCCTCCTCCTCCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2152		chr15	TogoVar
CRYBB2_chr22_25214639_25236869	25235715	T T	TGAAAATG others(345): Show TGAAAATGGGAAACTTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA19082.hp1 NA18990.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0193 a0001c0002t0001g0002 a0001c0002t0001g0193	2	464	0.0043	352	c.39 others(363): Show c.3943_*3944insGAAAATGGGAAACTTGGAGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		3847		chr22	TogoVar
CSRP3_chr11_19177030_19206983	19195302	T T	TAAGATTG others(345): Show TAAGATTGCTGGACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA GTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	416	0.0024	352	c.-28 others(369): Show c.-28-2827_-28-2826insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGC CGGACTGCGGACTGCAGTGGCGCACTCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGGGTCCAGCAATCTT	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST8_chr20_23486117_23501010	23490409	T T	TTATATAT others(345): Show TTATATATAAAATATATATAATTTATATATATAAATTATATATAAAATAT ATATAATTTATATATATAAATTATATATATTTTATATATAATTTATATAT ATAAATTATATATATTTTATATATAATTTATATATATAAATTATATATAT TTTATATATAATTTATATATATAAATTATATATATTTTATATATAATTTA TATATATAAATTATATATATTTTATATATAATTTATATATATAAATTATA TATATTTTATATATAATTTATATATATAAATTATATATAAAATATATATA ATTTATATATATAAATTATATATAAAATATATATAATTTATATATAGAAA TTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	352	c.-10 others(363): Show c.-1077_-1076insTATATATAAAATATATATAATTTATATATATAAA TTATATATAAAATATATATAATTTATATATATAAATTATATATATTTTAT ATATAATTTATATATATAAATTATATATATTTTATATATAATTTATATAT ATAAATTATATATATTTTATATATAATTTATATATATAAATTATATATAT TTTATATATAATTTATATATATAAATTATATATATTTTATATATAATTTA TATATATAAATTATATATATTTTATATATAATTTATATATATAAATTATA TATAAAATATATATAATTTATATATATAAATTATATATAAAATATATATA ATTTATATATAGAAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		707		chr20	TogoVar
CTNNA2_chr2_79508051_80653780	79878804	T T	TGCAGAAG others(345): Show TGCAGAAGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGAAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCCGG CCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	68	0.0147	352	c.852 others(369): Show c.852+4475_852+4476insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGAAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACC GCGCCCGGCCCGCAGAAGCTCTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr2	TogoVar

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