Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CLN8_chr8_1758789_1791570	1763392	GCGCCGCG others(27): Show GCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	374	0.0027	-34	c.-61 others(43): Show c.-616_-583delCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		396		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763583	CGCGCCCC others(27): Show CGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0030 a0001c0001t0011g0030	1	412	0.0024	-34	c.-42 others(43): Show c.-425_-392delGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		205		chr8	TogoVar
CLNK_chr4_10481395_10689768	10495768	AGAGGAGA others(27): Show AGAGGAGAAGGTCACGTGACCATAGAGAGAGCGAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02738.hp1 HG01192.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0154 a0001c0001t0004g0078 a0001c0001t0001g0154 a0001c0001t0004g0078	2	318	0.0063	-34	c.114 others(53): Show c.1141-5189_1141-5156delATCGCTCTCTCTATGGTCACGTGACC TTCTCCTC	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	18/18			chr4	TogoVar
CLPB_chr11_72280495_72439531	72297636	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02886.hp2 others(1): Show HG02109.hp1 HG02486.hp1 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0039 a0001c0001t0041 a0001c0001t0069 others(1): Show a0001c0001t0039 a0001c0001t0041 a0001c0001t0069 a0001c0002t0028	a0001c0001t0039g0155 a0001c0001t0041g0154 a0001c0001t0069g0005 others(1): Show a0001c0001t0039g0155 a0001c0001t0041g0154 a0001c0001t0069g0005 a0001c0002t0028g0149	4	22	0.1818	-34	c.142 others(53): Show c.1420-2022_1420-1989delACACACACACACACACACACACACAC ACACACAC	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	12/16			chr11	TogoVar
CLPX_chr15_65143219_65190342	65146070	TATATATA others(27): Show TATATATATAAATATATATATAAATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	182	0.0055	-34	c.47 others(45): Show c.4719_*4752delTTATATATATATTTATATATATATTTATATATAT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2148		chr15	TogoVar
CLSTN2_chr3_139930185_140582397	140490103	TATATATA others(27): Show TATATATATATATATACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG02559.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0002 a0001c0018t0002 a0001c0001t0002 a0001c0018t0002	a0001c0001t0002g0107 a0001c0018t0002g0006 a0001c0001t0002g0107 a0001c0018t0002g0006	2	110	0.0182	-34	c.134 others(55): Show c.1344+23374_1344+23407delTATATATATATATACACACACACA CACACACACA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUAP1_chr16_3496004_3544048	3529533	GTTATATA others(27): Show GTTATATATTATTATATATTATATATTATTATATA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19088.hp2 NA18983.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	344	0.0058	-34	c.929 others(50): Show c.929-1023_929-990delTATATATTATATATTATTATATATTATAT ATTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3529616	ATATTATA others(27): Show ATATTATATATTATATATTATTATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18962.hp1 NA18953.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0235 a0001c0001t0001g0236	2	231	0.0087	-34	c.929 others(49): Show c.929-897_929-864delTATATATTATATATTATTATATATTATATA TTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3529680	TATATTAT others(27): Show TATATTATTATATATTATATATTATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	380	0.0026	-34	c.929 others(49): Show c.929-880_929-847delTATATATTATATATTATATATTATATAATA TTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUH_chr17_2684387_2716764	2691945	GCCCCCGC others(27): Show GCCCCCGCCCCGCCACGCCCCCGCCCCGCCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0263 a0001c0004t0001g0263	1	416	0.0024	-34	c.365 others(49): Show c.3654+25_3655-51delGCGGGGGCGGGGCGGGGGCGTGGCGGGGCG GGGG	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLVS1_chr8_61282970_61506629	61347626	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	6	0.1667	-34	c.456 others(53): Show c.456-28955_456-28922delATATATATATATATATATATATATAT ATATATAT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CMC2_chr16_80961448_81011885	80965219	ATATATAT others(27): Show ATATATATATATATATATATATATATGTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0082 a0002c0002t0082	a0002c0002t0082g0163 a0002c0002t0082g0163	1	401	0.0025	-34	c.10 others(47): Show c.10840_*10873delAAAAAAAACATATATATATATATATATATATA TA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1228		chr16	TogoVar
CMSS1_chr3_99812862_100186732	99983412	ATATATAT others(27): Show ATATATATGTATGTATGTATGTATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp1 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0163 a0001c0001t0005g0083 a0001c0001t0001g0163 a0001c0001t0005g0083	2	232	0.0086	-34	c.65- others(53): Show c.65-163553_65-163520delGTATGTATGTATGTATATATATGTAT GTATATAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMYA5_chr5_79684836_79805222	79742077	CTTCTTCT others(27): Show CTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0053 a0053	a0053c0086 a0053c0086	a0053c0086t0001 a0053c0086t0001	a0053c0086t0001g0250 a0053c0086t0001g0250	1	356	0.0028	-34	c.106 others(55): Show c.10639-1748_10639-1715delTCTTCTTCTTCTTCTTCTTCTTTC TTCTTCTCTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	87281541	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01257.hp2 others(3): Show HG01167.hp1 HG01169.hp1 HG01257.hp2 HG02647.hp2 HG03209.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0001c0001t0001 a0001c0006t0001 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0087 a0001c0006t0001g0040 a0002c0002t0001g0080	6	12	0.5000	-34	c.772 others(51): Show c.772-3109_772-3076delTATATATATATATATATATATATATATA TATATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129171888	TTAAAAAA others(27): Show TTAAAAAAATAGCTGGGCATGGTGGCTCACGCCAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	428	0.0023	-34	c.-14 others(49): Show c.-14-151_-14-118delCTGGCGTGAGCCACCATGCCCAGCTATTTT TTTA	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNKSR3_chr6_154382515_154515685	154505263	TAGTCAAG others(27): Show TAGTCAAGCACCTTAAGACTGCTATGTGTCATAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00738.hp2 others(39): Show HG00408.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01167.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01891.hp2 HG01975.hp2 HG02040.hp1 HG02083.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02683.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03688.hp2 HG04184.hp1 NA18612.hp2 NA18941.hp1 NA18946.hp1 NA18949.hp2 NA18951.hp2 NA18973.hp1 NA19012.hp1 NA19070.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0048 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0073 a0001c0001t0074 a0001c0001t0194 a0001c0002t0009 a0001c0002t0025 a0001c0002t0034 a0001c0002t0038 a0001c0002t0061 a0001c0002t0062 a0001c0002t0065 a0001c0002t0068 a0001c0002t0069 a0001c0002t0176 a0001c0002t0193 a0001c0002t0201 a0001c0003t0188 a0001c0004t0067 a0003c0007t0044	a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0101 others(39): Show a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0101 a0001c0001t0016g0036 a0001c0001t0016g0049 a0001c0001t0017g0020 a0001c0001t0017g0022 a0001c0001t0017g0048 a0001c0001t0021g0088 a0001c0001t0023g0039 a0001c0001t0024g0013 a0001c0001t0024g0032 a0001c0001t0025g0007 a0001c0001t0027g0184 a0001c0001t0027g0185 a0001c0001t0030g0059 a0001c0001t0048g0031 a0001c0001t0052g0038 a0001c0001t0054g0006 a0001c0001t0055g0030 a0001c0001t0056g0034 a0001c0001t0073g0021 a0001c0001t0074g0033 a0001c0001t0194g0333 a0001c0002t0009g0018 a0001c0002t0009g0019 a0001c0002t0009g0037 a0001c0002t0025g0010 a0001c0002t0034g0153 a0001c0002t0034g0154 a0001c0002t0038g0057 a0001c0002t0061g0035 a0001c0002t0062g0011 a0001c0002t0065g0014 a0001c0002t0068g0012 a0001c0002t0069g0017 a0001c0002t0176g0056 a0001c0002t0193g0337 a0001c0002t0201g0332 a0001c0003t0188g0248 a0001c0004t0067g0005 a0003c0007t0044g0001	42	340	0.1235	-34	c.52+ others(49): Show c.52+4766_52+4799delTTTATGACACATAGCAGTCTTAAGGTGCTT GACT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	1/12			chr6	TogoVar
CNN2_chr19_1021608_1044065	1033864	CACGGTGT others(27): Show CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(107): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01516.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0001c0016 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0034 a0001c0002t0004 a0001c0002t0012 a0001c0002t0013 a0001c0003t0003 a0001c0003t0010 a0001c0005t0016 a0001c0014t0005 a0001c0016t0024 a0003c0012t0005	a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0044 others(62): Show a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0107 a0001c0001t0002g0116 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0003g0001 a0001c0001t0005g0005 a0001c0001t0005g0068 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0006g0044 a0001c0001t0009g0001 a0001c0001t0009g0004 a0001c0001t0009g0049 a0001c0001t0009g0117 a0001c0001t0009g0154 a0001c0001t0009g0199 a0001c0001t0014g0001 a0001c0001t0014g0026 a0001c0001t0014g0170 a0001c0001t0015g0001 a0001c0001t0015g0078 a0001c0001t0034g0131 a0001c0002t0004g0001 a0001c0002t0004g0004 a0001c0002t0004g0118 a0001c0002t0004g0183 a0001c0002t0004g0189 a0001c0002t0004g0191 a0001c0002t0004g0202 a0001c0002t0012g0004 a0001c0002t0012g0186 a0001c0002t0013g0004 a0001c0003t0003g0070 a0001c0003t0003g0193 a0001c0003t0010g0071 a0001c0003t0010g0163 a0001c0003t0010g0164 a0001c0005t0016g0045 a0001c0014t0005g0009 a0001c0016t0024g0038 a0003c0012t0005g0067	110	385	0.2857	-34	c.390 others(51): Show c.390+1205_390+1238delGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034074	CACGGTGT others(27): Show CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0165 a0001c0001t0011g0165	1	388	0.0026	-34	c.390 others(51): Show c.390+1415_390+1448delGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034144	CACATTGT others(27): Show CACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03579.hp1 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0008 a0001c0003t0003g0008	2	388	0.0052	-34	c.390 others(51): Show c.390+1451_390+1484delATTGTCTGGTGTAGACCGGGAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034445	GGGGAGCG others(27): Show GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(62): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG01243.hp2 HG01257.hp2 HG01978.hp1 HG02074.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03139.hp1 HG03516.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19054.hp1 NA19054.hp2 NA19066.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0002t0004 a0001c0003t0003 a0001c0005t0016	a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0197 others(37): Show a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0107 a0001c0001t0002g0116 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0003g0001 a0001c0001t0005g0005 a0001c0001t0005g0068 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0006g0044 a0001c0001t0009g0004 a0001c0001t0009g0199 a0001c0001t0014g0001 a0001c0001t0014g0170 a0001c0001t0015g0001 a0001c0001t0015g0078 a0001c0002t0004g0183 a0001c0003t0003g0070 a0001c0003t0003g0193 a0001c0005t0016g0045	65	378	0.1720	-34	c.391 others(51): Show c.391-1682_391-1649delGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGG	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034518	GAGCGTGG others(27): Show GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	388	0.0026	-34	c.391 others(51): Show c.391-1597_391-1564delGGTGTCTGGTGTAGACCGGCAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034588	GAGCGTGG others(27): Show GAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG04199.hp1 NA21309.hp1 HG02717.hp1 HG04199.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0019 a0001c0001t0001 a0001c0008t0019	a0001c0001t0001g0057 a0001c0001t0001g0211 a0001c0008t0019g0125 a0001c0001t0001g0057 a0001c0001t0001g0211 a0001c0008t0019g0125	3	388	0.0077	-34	c.391 others(51): Show c.391-1527_391-1494delGGTGTCTGGTGTAGACCGGCAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034655	GGGGAGCG others(27): Show GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02559.hp2 others(6): Show HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02970.hp2 HG03540.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0034 a0001c0002t0004 a0001c0003t0010	a0001c0001t0001g0042 a0001c0001t0002g0184 a0001c0001t0009g0049 others(5): Show a0001c0001t0001g0042 a0001c0001t0002g0184 a0001c0001t0009g0049 a0001c0001t0034g0131 a0001c0002t0004g0004 a0001c0002t0004g0189 a0001c0003t0010g0163 a0001c0003t0010g0164	9	347	0.0259	-34	c.391 others(51): Show c.391-1457_391-1424delGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034776	CACATTGT others(27): Show CACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG02135.hp2 others(6): Show HG00099.hp2 HG01192.hp2 HG02135.hp2 HG02683.hp2 HG02738.hp1 HG03831.hp1 NA18980.hp1 NA19066.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0001t0001 a0001c0001t0002 a0001c0003t0003	a0001c0001t0001g0130 a0001c0001t0001g0168 a0001c0001t0001g0214 others(6): Show a0001c0001t0001g0130 a0001c0001t0001g0168 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0002g0001 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0003t0003g0008	9	388	0.0232	-34	c.391 others(51): Show c.391-1351_391-1318delATTGTCTGGTGTAGACCGGGAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034882	CACGGTGT others(27): Show CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	388	0.0026	-34	c.391 others(51): Show c.391-1211_391-1178delGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034952	CACGGTGT others(27): Show CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01257.hp2 others(3): Show HG00280.hp2 HG00323.hp2 HG01257.hp2 HG02109.hp2 HG02602.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 a0001c0001t0001 a0001c0001t0005 a0001c0002t0004	a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 others(3): Show a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0005g0212 a0001c0002t0004g0183 a0001c0002t0004g0217	6	388	0.0155	-34	c.391 others(51): Show c.391-1141_391-1108delGGTGTCTGGTGTAGACCGGGAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1035038	GACCGGGA others(27): Show GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG02015.hp2 others(3): Show HG00733.hp1 HG00733.hp2 HG02015.hp2 HG03704.hp2 HG04228.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0017 a0001c0002t0004 a0001c0001t0005 a0001c0001t0017 a0001c0002t0004	a0001c0001t0005g0009 a0001c0001t0005g0069 a0001c0001t0017g0075 others(3): Show a0001c0001t0005g0009 a0001c0001t0005g0069 a0001c0001t0017g0075 a0001c0002t0004g0009 a0001c0002t0004g0076 a0001c0002t0004g0115	6	388	0.0155	-34	c.391 others(51): Show c.391-1071_391-1038delGGTGTCTGGTGTATACCGGGAGCGTGGG TGGGAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT4_chr7_135356795_135515102	135472504	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0182 a0001c0003t0002g0182	1	346	0.0029	-34	c.-92 others(53): Show c.-92-34115_-92-34082delATATATATATATATATATATATATTT TTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472508	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	300	0.0033	-34	c.-92 others(53): Show c.-92-34119_-92-34086delATATATATATATATATATATATATAT ATTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472510	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	292	0.0034	-34	c.-92 others(53): Show c.-92-34121_-92-34088delATATATATATATATATATATATATAT ATATTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT6_chr5_180489379_180583358	180573574	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG03540.hp1 HG02451.hp2 HG02809.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0041 a0001c0001t0060 a0001c0001t0040 a0001c0001t0041 a0001c0001t0060	a0001c0001t0040g0101 a0001c0001t0041g0102 a0001c0001t0060g0003 a0001c0001t0040g0101 a0001c0001t0041g0102 a0001c0001t0060g0003	3	332	0.0090	-34	c.146 others(51): Show c.1462-411_1462-378delGTGTGTGTGTGTGTGTGTGTGTGTGTCC GTCCGT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT9_chr2_218563839_218602080	218583219	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0179 a0001c0001t0010g0179	1	318	0.0031	-34	c.320 others(49): Show c.320+135_320+168delGTGTGTGTGTGTGTCTCTCTCTCTCTCTCT CTCT	CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT9_chr2_218563839_218602080	218583231	GTGTCTCT others(27): Show GTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp2 others(9): Show HG01884.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp1 HG02647.hp1 HG02723.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0141 others(5): Show a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0141 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149	12	309	0.0388	-34	c.320 others(49): Show c.320+147_320+180delGTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTN4_chr3_2093866_3062959	2436762	CCTTCAAA others(27): Show CCTTCAAATATATATGAAATATATGTATATATTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp2 HG03139.hp1 others(4): Show HG02818.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03540.hp1 HG06807.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0003c0008	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0013t0007 a0003c0008t0013	a0001c0001t0002g0086 a0001c0002t0001g0030 a0001c0002t0001g0108 others(4): Show a0001c0001t0002g0086 a0001c0002t0001g0030 a0001c0002t0001g0108 a0001c0002t0003g0024 a0001c0002t0003g0114 a0001c0013t0007g0056 a0003c0008t0013g0109	7	116	0.0603	-34	c.-89 others(53): Show c.-89+97598_-89+97631delCTTCAAATATATATGAAATATATGTA TATATTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1098759	CACACACA others(27): Show CACACACACACACACACACACACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	176	0.0057	-34	c.-83 others(51): Show c.-83+5641_-83+5674delCACACACACACACACACACACACACACA CATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146151664	ATATATAT others(27): Show ATATATATATATATATATGTATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	39	0.0256	-34	c.97+ others(51): Show c.97+34707_97+34740delATGTATATATATATATATGTATATATAT ATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146457481	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp1 NA21309.hp2 HG02922.hp1 HG03225.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0012 a0001c0001t0018 a0001c0009t0019 a0001c0001t0012 a0001c0001t0018 a0001c0009t0019	a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0009t0019g0027 a0001c0001t0012g0034 a0001c0001t0018g0001 a0001c0009t0019g0027	3	4	0.7500	-34	c.98- others(53): Show c.98-316768_98-316735delTATATATATATATATATATATATATA TATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146502213	GTATATAT others(27): Show GTATATATATGAATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02630.hp2 others(3): Show HG01891.hp2 HG02451.hp1 HG02630.hp2 HG02976.hp1 HG03139.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0015	a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0008t0001 a0001c0010t0002 a0001c0015t0001	a0001c0001t0006g0009 a0001c0002t0001g0007 a0001c0002t0002g0013 others(3): Show a0001c0001t0006g0009 a0001c0002t0001g0007 a0001c0002t0002g0013 a0001c0008t0001g0025 a0001c0010t0002g0014 a0001c0015t0001g0011	6	40	0.1500	-34	c.98- others(53): Show c.98-272048_98-272015delGAATATATATATATATATATATATAT ATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147347443	TATATATA others(27): Show TATATATATATATGCATATATATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0017 a0005c0007t0017	a0005c0007t0017g0031 a0005c0007t0017g0031	1	40	0.0250	-34	c.149 others(55): Show c.1498+47166_1498+47199delGCATATATATATATATATATGCAT ATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147618671	AATAACAG others(27): Show AATAACAGCTATTATATATATATAATAACAGCTAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 NA19030.hp1 HG02717.hp2 HG02886.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0008 a0001c0005t0022 a0001c0001t0001 a0001c0005t0008 a0001c0005t0022	a0001c0001t0001g0038 a0001c0005t0008g0005 a0001c0005t0022g0032 a0001c0001t0001g0038 a0001c0005t0008g0005 a0001c0005t0022g0032	3	40	0.0750	-34	c.189 others(55): Show c.1898-20434_1898-20401delATAACAGCTATTATATATATATAA TAACAGCTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147784494	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02717.hp2 others(9): Show HG02486.hp1 HG02486.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0015 a0001c0018	a0001c0001t0007 a0001c0002t0010 a0001c0003t0011 others(7): Show a0001c0001t0007 a0001c0002t0010 a0001c0003t0011 a0001c0004t0003 a0001c0004t0005 a0001c0005t0008 a0001c0005t0022 a0001c0008t0001 a0001c0015t0001 a0001c0018t0002	a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0002t0010g0002 others(9): Show a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0002t0010g0002 a0001c0003t0011g0023 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 a0001c0005t0008g0005 a0001c0005t0022g0032 a0001c0008t0001g0025 a0001c0015t0001g0011 a0001c0018t0002g0012	12	15	0.8000	-34	c.209 others(57): Show c.2099-119048_2099-119015delATATATATATATATATATATAT ATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(27): Show TTATATACATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01109.hp1 others(5): Show HG00735.hp1 HG01069.hp1 HG01109.hp1 HG01243.hp2 HG01981.hp1 HG02735.hp2 HG04184.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0004c0010t0002 a0001c0001t0001 a0001c0001t0003 a0004c0010t0002	a0001c0001t0001g0141 a0001c0001t0003g0016 a0001c0001t0003g0197 others(5): Show a0001c0001t0001g0141 a0001c0001t0003g0016 a0001c0001t0003g0197 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0233 a0004c0010t0002g0186	8	80	0.1000	-34	c.391 others(53): Show c.391-29507_391-29474delCATATATATATATATATATATATATA TATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(27): Show CCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00738.hp2 others(23): Show HG00423.hp1 HG00597.hp2 HG00738.hp2 HG01433.hp1 HG01884.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02717.hp1 HG02886.hp2 HG03041.hp2 HG03453.hp1 NA18612.hp1 NA18906.hp1 NA18943.hp1 NA18955.hp2 NA18962.hp2 NA18979.hp2 NA18987.hp1 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19063.hp1 NA19068.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0021	a0001c0001 a0001c0015 a0002c0002 others(10): Show a0001c0001 a0001c0015 a0002c0002 a0002c0005 a0002c0021 a0002c0026 a0002c0042 a0003c0003 a0004c0007 a0004c0010 a0005c0008 a0006c0009 a0021c0030	a0001c0001t0001 a0001c0001t0004 a0001c0015t0004 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0015t0004 a0002c0002t0002 a0002c0002t0004 a0002c0005t0004 a0002c0021t0004 a0002c0026t0004 a0002c0042t0008 a0003c0003t0004 a0004c0007t0004 a0004c0010t0029 a0005c0008t0001 a0006c0009t0004 a0021c0030t0004	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0174 others(23): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0174 a0001c0001t0001g0196 a0001c0001t0004g0172 a0001c0015t0004g0089 a0002c0002t0002g0167 a0002c0002t0004g0009 a0002c0002t0004g0014 a0002c0002t0004g0058 a0002c0002t0004g0079 a0002c0002t0004g0109 a0002c0002t0004g0153 a0002c0002t0004g0252 a0002c0002t0004g0253 a0002c0005t0004g0154 a0002c0005t0004g0173 a0002c0021t0004g0162 a0002c0026t0004g0007 a0002c0042t0008g0036 a0003c0003t0004g0270 a0004c0007t0004g0055 a0004c0010t0029g0241 a0005c0008t0001g0220 a0006c0009t0004g0273 a0021c0030t0004g0071	26	166	0.1566	-34	c.275 others(51): Show c.2755+434_2755+467delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTRL_chr9_121069955_121182610	121092613	ATATATTA others(27): Show ATATATTATATATATCTATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0232 a0001c0001t0003g0236	2	328	0.0061	-34	c.348 others(51): Show c.348+2214_349-2236delTATATATATCTATATATATAATATATAT CTATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COA1_chr7_43634257_43734523	43691318	AAAGAAAG others(27): Show AAAGAAAGAAAGAGAAAGAGAGAGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp1 others(17): Show HG00099.hp2 HG00323.hp1 HG00558.hp1 HG01069.hp2 HG01099.hp2 HG01168.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01496.hp2 HG01993.hp2 HG02165.hp2 HG03491.hp2 HG03492.hp1 NA18973.hp1 NA18994.hp1 NA19079.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0052 others(17): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0136 a0001c0001t0001g0144	20	382	0.0524	-34	c.-39 others(53): Show c.-39+38077_-39+38110delCCTCCCTCCCTCTCTCTCTTTCTCTT TCTTTCTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COBL_chr7_51011212_51321809	51085330	CAATCAAA others(27): Show CAATCAAAGTACTTTGTACCTATGAAGTACAAAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(92): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18981.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp2 NA19003.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0012 a0013 a0014 a0015 a0016 a0019 a0020	a0001c0003 a0001c0005 a0001c0006 others(38): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0018 a0001c0019 a0001c0020 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0037 a0001c0047 a0001c0052 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0002c0002 a0002c0004 a0002c0015 a0003c0001 a0003c0011 a0003c0016 a0003c0056 a0004c0013 a0004c0058 a0004c0060 a0006c0023 a0007c0024 a0012c0036 a0013c0041 a0014c0051 a0015c0057 a0016c0061 a0019c0059 a0020c0043	a0001c0003t0001 a0001c0003t0002 a0001c0005t0008 others(55): Show a0001c0003t0001 a0001c0003t0002 a0001c0005t0008 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0008t0002 a0001c0008t0004 a0001c0009t0001 a0001c0009t0002 a0001c0009t0005 a0001c0010t0005 a0001c0010t0007 a0001c0010t0012 a0001c0018t0003 a0001c0019t0001 a0001c0019t0002 a0001c0020t0001 a0001c0020t0003 a0001c0027t0009 a0001c0028t0001 a0001c0029t0003 a0001c0030t0001 a0001c0030t0005 a0001c0037t0001 a0001c0047t0001 a0001c0052t0001 a0001c0062t0004 a0001c0063t0001 a0001c0064t0011 a0001c0065t0001 a0001c0066t0003 a0002c0002t0002 a0002c0004t0001 a0002c0004t0003 a0002c0004t0006 a0002c0015t0001 a0002c0015t0006 a0002c0015t0014 a0003c0001t0001 a0003c0001t0002 a0003c0001t0005 a0003c0011t0001 a0003c0011t0002 a0003c0016t0001 a0003c0056t0002 a0004c0013t0015 a0004c0058t0003 a0004c0060t0008 a0006c0023t0002 a0007c0024t0016 a0012c0036t0003 a0013c0041t0002 a0014c0051t0002 a0015c0057t0003 a0016c0061t0001 a0019c0059t0001 a0020c0043t0001	a0001c0003t0001g0005 a0001c0003t0001g0048 a0001c0003t0001g0068 others(91): Show a0001c0003t0001g0005 a0001c0003t0001g0048 a0001c0003t0001g0068 a0001c0003t0002g0225 a0001c0005t0008g0166 a0001c0006t0002g0041 a0001c0006t0003g0036 a0001c0006t0003g0037 a0001c0006t0003g0039 a0001c0006t0003g0051 a0001c0006t0003g0120 a0001c0006t0003g0183 a0001c0006t0003g0195 a0001c0007t0001g0106 a0001c0007t0001g0171 a0001c0007t0001g0174 a0001c0007t0001g0175 a0001c0007t0001g0176 a0001c0007t0001g0177 a0001c0007t0001g0178 a0001c0008t0002g0162 a0001c0008t0004g0001 a0001c0008t0004g0103 a0001c0008t0004g0104 a0001c0008t0004g0105 a0001c0008t0004g0107 a0001c0009t0001g0006 a0001c0009t0001g0015 a0001c0009t0001g0018 a0001c0009t0001g0056 a0001c0009t0002g0058 a0001c0009t0002g0075 a0001c0009t0005g0221 a0001c0010t0005g0163 a0001c0010t0007g0012 a0001c0010t0012g0114 a0001c0018t0003g0143 a0001c0018t0003g0170 a0001c0019t0001g0032 a0001c0019t0001g0033 a0001c0019t0002g0119 a0001c0020t0001g0167 a0001c0020t0003g0034 a0001c0020t0003g0222 a0001c0027t0009g0076 a0001c0027t0009g0164 a0001c0028t0001g0008 a0001c0028t0001g0127 a0001c0029t0003g0054 a0001c0029t0003g0169 a0001c0030t0001g0113 a0001c0030t0005g0053 a0001c0037t0001g0173 a0001c0047t0001g0216 a0001c0052t0001g0073 a0001c0062t0004g0007 a0001c0063t0001g0021 a0001c0064t0011g0063 a0001c0065t0001g0060 a0001c0066t0003g0052 a0002c0002t0002g0213 a0002c0004t0001g0182 a0002c0004t0001g0224 a0002c0004t0003g0226 a0002c0004t0006g0004 a0002c0004t0006g0083 a0002c0004t0006g0108 a0002c0015t0001g0168 a0002c0015t0006g0023 a0002c0015t0014g0014 a0003c0001t0001g0010 a0003c0001t0001g0227 a0003c0001t0002g0055 a0003c0001t0005g0100 a0003c0011t0001g0013 a0003c0011t0001g0069 a0003c0011t0002g0070 a0003c0016t0001g0077 a0003c0016t0001g0078 a0003c0016t0001g0080 a0003c0016t0001g0081 a0003c0056t0002g0059 a0004c0013t0015g0229 a0004c0058t0003g0022 a0004c0060t0008g0062 a0006c0023t0002g0211 a0007c0024t0016g0228 a0012c0036t0003g0091 a0013c0041t0002g0139 a0014c0051t0002g0029 a0015c0057t0003g0061 a0016c0061t0001g0025 a0019c0059t0001g0040 a0020c0043t0001g0200	95	228	0.4167	-34	c.958 others(47): Show c.958-60_958-27delTCTTTGTACTTCATAGGTACAAAGTACTTTGA TT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COG1_chr17_73188055_73213507	73192850	GCCCCCTC others(27): Show GCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(47): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00673.hp1 HG00735.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02683.hp1 HG02698.hp1 HG03453.hp1 HG03490.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp2 NA18942.hp2 NA18949.hp1 NA18952.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18999.hp1 NA19011.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA21309.hp1	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0001 a0008c0012 a0009c0011 a0002c0001 a0008c0012 a0009c0011	a0002c0001t0001 a0008c0012t0001 a0009c0011t0001 a0002c0001t0001 a0008c0012t0001 a0009c0011t0001	a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0011 others(14): Show a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0057 a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0060 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0069 a0002c0001t0001g0094 a0008c0012t0001g0061 a0009c0011t0001g0068	50	402	0.1244	-34	c.-21 others(43): Show c.-219_-186delCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		204		chr17	TogoVar
COL18A1_chr21_45400165_45518720	45490017	CACCCTCC others(27): Show CACCCTCCCCCACTTCCCCGTCCCCCACACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00609.hp2 others(45): Show HG00099.hp2 HG00140.hp2 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18954.hp1 NA18961.hp2 NA18969.hp2 NA18977.hp2 NA18990.hp2 NA19010.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp2	a0001 a0005 a0011 others(4): Show a0001 a0005 a0011 a0012 a0016 a0022 a0023	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0011 a0001c0031 a0001c0032 a0001c0035 a0001c0051 a0001c0052 a0001c0060 a0001c0079 a0005c0053 a0011c0049 a0011c0099 a0012c0037 a0016c0040 a0022c0046 a0023c0047	a0001c0001t0001 a0001c0002t0012 a0001c0004t0001 others(18): Show a0001c0001t0001 a0001c0002t0012 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0007t0002 a0001c0011t0001 a0001c0031t0001 a0001c0032t0002 a0001c0035t0001 a0001c0051t0001 a0001c0052t0002 a0001c0060t0001 a0001c0079t0008 a0005c0053t0001 a0011c0049t0001 a0011c0099t0004 a0012c0037t0009 a0016c0040t0001 a0022c0046t0004 a0023c0047t0004	a0001c0001t0001g0122 a0001c0002t0012g0088 a0001c0004t0001g0008 others(45): Show a0001c0001t0001g0122 a0001c0002t0012g0088 a0001c0004t0001g0008 a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0079 a0001c0004t0001g0089 a0001c0004t0001g0140 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0181 a0001c0004t0001g0196 a0001c0004t0001g0218 a0001c0004t0001g0224 a0001c0004t0001g0253 a0001c0004t0001g0278 a0001c0004t0001g0286 a0001c0004t0001g0288 a0001c0004t0003g0265 a0001c0004t0008g0125 a0001c0007t0002g0056 a0001c0007t0002g0165 a0001c0007t0002g0197 a0001c0007t0002g0210 a0001c0007t0002g0223 a0001c0011t0001g0009 a0001c0011t0001g0177 a0001c0011t0001g0178 a0001c0011t0001g0187 a0001c0031t0001g0130 a0001c0031t0001g0134 a0001c0032t0002g0077 a0001c0032t0002g0129 a0001c0035t0001g0145 a0001c0051t0001g0248 a0001c0052t0002g0055 a0001c0060t0001g0142 a0001c0079t0008g0189 a0005c0053t0001g0061 a0011c0049t0001g0198 a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201 a0016c0040t0001g0095 a0022c0046t0004g0164 a0023c0047t0004g0163	48	284	0.1690	-34	c.196 others(51): Show c.1960-257_1960-224delACCCTCCCCCACTTCCCCGTCCCCCACA CCTCCT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41			chr21	TogoVar
COL22A1_chr8_138583235_138919041	138660825	CACATACA others(27): Show CACATACACACACAGACACACACACACATACACAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp1 HG03209.hp1 HG00639.hp1 HG02486.hp1 HG03209.hp1	a0001 a0001	a0001c0010 a0001c0012 a0001c0010 a0001c0012	a0001c0010t0001 a0001c0012t0005 a0001c0010t0001 a0001c0012t0005	a0001c0010t0001g0029 a0001c0010t0001g0031 a0001c0012t0005g0143 a0001c0010t0001g0029 a0001c0010t0001g0031 a0001c0012t0005g0143	3	156	0.0192	-34	c.324 others(51): Show c.3241-379_3241-346delCTGTGTATGTGTGTGTGTGTCTGTGTGT GTATGT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	43/64			chr8	TogoVar

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