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
CEP63_chr3_134481057_134570031	134547614	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0119 a0001c0001t0025g0119	1	322	0.0031	14	c.106 others(31): Show c.1067+144_1067+157dupTTTTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP63_chr3_134481057_134570031	134557376	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02970.hp1 HG01891.hp1 HG02572.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0009g0099 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0009g0099	3	322	0.0093	14	c.146 others(31): Show c.1468-751_1468-738dupTTTTTTTTTTTTTT	CEP63	ENSG00000182923.20	transcript	ENST00000675561.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP68_chr2_65051416_65092004	65089702	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02080.hp1 HG03710.hp2 others(9): Show HG01106.hp2 HG02080.hp1 HG03710.hp2 HG04184.hp2 NA18940.hp2 NA18963.hp2 NA18970.hp2 NA18973.hp1 NA18978.hp1 NA19002.hp1 NA19006.hp1 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0035 a0002c0002 a0002c0010 a0002c0035	a0002c0002t0002 a0002c0010t0002 a0002c0035t0002 a0002c0002t0002 a0002c0010t0002 a0002c0035t0002	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0021 others(6): Show a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0021 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0112 a0002c0002t0002g0246 a0002c0010t0002g0088 a0002c0035t0002g0003	12	360	0.0333	14	c.60 others(25): Show c.6068_*6069insTTTTTTTTTTTTTT	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding		2699		chr2	TogoVar
CEP72_chr5_607340_658553	648737	T T	TGACTGTG others(7): Show TGACTGTGAGGTGTG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	91	0.0110	14	c.177 others(31): Show c.1778+850_1778+863dupGACTGTGAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650083	C C	CGTGGACT others(7): Show CGTGGACTGTGAGGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	91	0.0110	14	c.177 others(33): Show c.1778+2170_1778+2171insGACTGTGAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650514	T T	TGACTGTG others(7): Show TGACTGTGAGGCGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20905.hp1 NA20752.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0075 a0002c0002t0001g0087	2	91	0.0220	14	c.177 others(33): Show c.1779-2463_1779-2450dupCGTGGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650747	T T	TGACTGTG others(7): Show TGACTGTGAGGCGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01192.hp1 others(8): Show HG01069.hp1 HG01070.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01517.hp1 HG02015.hp1 HG03688.hp2 HG03834.hp1 NA18999.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025	11	91	0.1209	14	c.177 others(33): Show c.1779-2230_1779-2217dupCGTGGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	651308	G G	GCGTGGAC others(7): Show GCGTGGACTGTGAGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18950.hp1 NA18948.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0016 a0001c0006t0001g0024 a0001c0001t0001g0016 a0001c0006t0001g0024	2	91	0.0220	14	c.177 others(33): Show c.1779-1680_1779-1679insCGTGGACTGTGAGA	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP76_chr18_12667625_12707723	12683186	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01099.hp1 others(30): Show HG00544.hp1 HG00673.hp2 HG01099.hp1 HG01361.hp2 HG01433.hp1 HG01952.hp1 HG02004.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03516.hp1 HG03831.hp1 NA18939.hp2 NA18944.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18964.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19080.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0052 others(20): Show a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0043 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0269 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0010g0267	33	380	0.0868	14	c.112 others(33): Show c.1123-2372_1123-2359dupTTTTTTTTTTTTTT	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	8/11			chr18	TogoVar
CEP76_chr18_12667625_12707723	12705570	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG03209.hp2 HG03486.hp2 HG01928.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0243 a0001c0001t0002g0039 a0001c0001t0002g0243	3	380	0.0079	14	c.-30 others(25): Show c.-3023_-3022insACACACACACACAC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding		2848		chr18	TogoVar
CEP83_chr12_94302698_94464867	94331289	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18967.hp1 NA18960.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0014 a0001c0001t0001g0020	2	364	0.0055	14	c.170 others(31): Show c.1707+397_1707+410dupTTTTTTTTTTTTTT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	14/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94347050	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01978.hp2 HG02300.hp1 others(3): Show HG01934.hp1 HG01978.hp2 HG02300.hp1 HG02615.hp2 HG02886.hp1 NA19076.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0008c0012t0008	a0001c0001t0001g0015 a0001c0001t0001g0071 a0001c0001t0001g0092 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0009g0112 a0001c0001t0013g0326 a0008c0012t0008g0036	6	364	0.0165	14	c.134 others(35): Show c.1344-11400_1344-11387dupATATATATATATAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	11/16			chr12	TogoVar
CEP83_chr12_94302698_94464867	94376690	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 NA18962.hp1 others(2): Show HG02622.hp1 HG02647.hp1 NA18962.hp1 NA18992.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0226 others(2): Show a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0226 a0001c0001t0007g0029 a0001c0001t0007g0031	5	364	0.0137	14	c.802 others(29): Show c.802-674_802-673insGTGTGTGTGTGTAT	CEP83	ENSG00000173588.16	transcript	ENST00000397809.10	protein_coding	7/16			chr12	TogoVar
CEP85L_chr6_118455772_118656591	118519473	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGGCG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	302	0.0033	14	c.113 others(33): Show c.1139+4328_1139+4329insCGCCACACACACAC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118519474	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	302	0.0033	14	c.113 others(33): Show c.1139+4327_1139+4328insGCCACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	4/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02145.hp1 HG03017.hp2 HG01123.hp1 HG02145.hp1 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0198 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0198	3	302	0.0099	14	c.102 others(35): Show c.1021-18994_1021-18981dupTTTTTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118558652	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0295 a0005c0005t0008g0295	1	302	0.0033	14	c.102 others(33): Show c.1020+6876_1020+6877insCTCTCTCTCTCTCT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600294	C C	CTGGGGGG others(7): Show CTGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	302	0.0033	14	c.232 others(33): Show c.232+32158_232+32159insCCCCCCCCCCCCCA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(7): Show GGGGGGGGGGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0227 a0002c0002t0002g0227	1	302	0.0033	14	c.232 others(33): Show c.232+32152_232+32153insACACACCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600370	T T	TGCGCGTG others(7): Show TGCGCGTGCGCGTGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0240 a0002c0002t0002g0240	1	302	0.0033	14	c.232 others(33): Show c.232+32082_232+32083insCCACGCGCACGCGC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26231666	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02683.hp2 HG02809.hp1 others(4): Show HG00741.hp1 HG02683.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp1 HG03486.hp2 HG04115.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0018 a0003c0003 others(1): Show a0001c0001 a0001c0018 a0003c0003 a0010c0020	a0001c0001t0003 a0001c0018t0011 a0003c0003t0004 others(1): Show a0001c0001t0003 a0001c0018t0011 a0003c0003t0004 a0010c0020t0004	a0001c0001t0003g0097 a0001c0018t0011g0324 a0003c0003t0004g0303 others(4): Show a0001c0001t0003g0097 a0001c0018t0011g0324 a0003c0003t0004g0303 a0003c0003t0004g0312 a0003c0003t0004g0316 a0003c0003t0004g0319 a0010c0020t0004g0306	7	342	0.0205	14	c.-26 others(25): Show c.-2667_-2666insTGTGTGTGTGTGTG	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		2533		chr1	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG03130.hp2 others(2): Show HG00639.hp2 HG01099.hp2 HG03130.hp2 HG03195.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0114 others(2): Show a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0114 a0001c0001t0003g0146 a0001c0001t0003g0159	5	342	0.0146	14	c.208 others(31): Show c.208+4413_208+4426dupTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26250925	C C	CCTTTTTT others(7): Show CCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0168 a0001c0001t0012g0168	1	342	0.0029	14	c.209 others(31): Show c.209-4246_209-4245insCTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13			chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GGGGTGTG others(7): Show GGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG02622.hp2 HG02896.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0322 a0003c0005t0004g0323 a0003c0005t0004g0322 a0003c0005t0004g0323	2	342	0.0059	14	c.904 others(29): Show c.904-668_904-667insGGTGTGTGTGTGTG	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00741.hp1 others(21): Show HG00280.hp2 HG00733.hp1 HG00741.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02572.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18944.hp2 NA18965.hp1 NA18972.hp1 NA19030.hp2 NA19062.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19088.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0003c0008 others(1): Show a0001c0001 a0003c0003 a0003c0008 a0010c0020	a0001c0001t0001 a0001c0001t0003 a0003c0003t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0004 a0003c0003t0006 a0003c0008t0004 a0010c0020t0004	a0001c0001t0001g0315 a0001c0001t0003g0153 a0001c0001t0003g0155 others(21): Show a0001c0001t0001g0315 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0166 a0001c0001t0003g0167 a0003c0003t0004g0304 a0003c0003t0004g0307 a0003c0003t0004g0310 a0003c0003t0004g0312 a0003c0003t0004g0313 a0003c0003t0004g0316 a0003c0003t0004g0317 a0003c0003t0004g0318 a0003c0003t0004g0325 a0003c0003t0006g0093 a0003c0003t0006g0094 a0003c0003t0006g0095 a0003c0003t0006g0096 a0003c0008t0004g0308 a0003c0008t0004g0309 a0010c0020t0004g0306	24	342	0.0702	14	c.904 others(29): Show c.904-654_904-641dupGTGTGTGTGTGTGT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP89_chr19_32870925_32976958	32902004	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00741.hp2 others(31): Show HG00544.hp2 HG00597.hp1 HG00741.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG02015.hp2 HG02040.hp1 HG03704.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18954.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18972.hp2 NA18979.hp1 NA18986.hp1 NA18994.hp2 NA18997.hp1 NA19007.hp1 NA19010.hp1 NA19054.hp1 NA19068.hp1 NA19074.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0016 a0001c0002 a0001c0004 a0001c0016	a0001c0002t0001 a0001c0002t0018 a0001c0002t0034 others(3): Show a0001c0002t0001 a0001c0002t0018 a0001c0002t0034 a0001c0004t0001 a0001c0004t0002 a0001c0016t0033	a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0018 others(30): Show a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0031 a0001c0002t0001g0040 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0069 a0001c0002t0001g0357 a0001c0002t0018g0023 a0001c0002t0034g0053 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0167 a0001c0004t0001g0171 a0001c0004t0001g0173 a0001c0004t0001g0178 a0001c0004t0001g0184 a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0195 a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0004t0001g0206 a0001c0004t0001g0208 a0001c0004t0002g0181 a0001c0016t0033g0055	34	386	0.0881	14	c.156 others(31): Show c.1566-593_1566-592insCACACACACACACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32902006	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0166 a0001c0004t0001g0166	1	386	0.0026	14	c.156 others(31): Show c.1566-595_1566-594insCACACACACACACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32902008	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03453.hp1 HG02486.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0302 a0001c0002t0001g0304	2	386	0.0052	14	c.156 others(31): Show c.1566-597_1566-596insCACACACACACACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32902010	C C	CTCTCTGT others(7): Show CTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02040.hp2 HG01175.hp2 HG02040.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0028 a0002c0001t0002 a0002c0001t0028	a0002c0001t0002g0159 a0002c0001t0028g0148 a0002c0001t0002g0159 a0002c0001t0028g0148	2	386	0.0052	14	c.156 others(31): Show c.1566-599_1566-598insCACACACACAGAGA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32902010	C C	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01074.hp1 others(3): Show HG00621.hp1 HG00642.hp1 HG01074.hp1 HG02293.hp2 HG02897.hp2 HG03098.hp1	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0001 a0006c0008 a0010c0025 a0002c0001 a0006c0008 a0010c0025	a0002c0001t0002 a0006c0008t0006 a0010c0025t0002 a0002c0001t0002 a0006c0008t0006 a0010c0025t0002	a0002c0001t0002g0150 a0002c0001t0002g0319 a0002c0001t0002g0349 others(3): Show a0002c0001t0002g0150 a0002c0001t0002g0319 a0002c0001t0002g0349 a0002c0001t0002g0371 a0006c0008t0006g0095 a0010c0025t0002g0324	6	386	0.0155	14	c.156 others(31): Show c.1566-599_1566-598insCACACACACACAGA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32902010	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0024 a0004c0005t0024	a0004c0005t0024g0111 a0004c0005t0024g0111	1	386	0.0026	14	c.156 others(31): Show c.1566-612_1566-599dupCACACACACACACA	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	14/18			chr19	TogoVar
CEP89_chr19_32870925_32976958	32951534	T T	TATATATA others(7): Show TATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0149 a0001c0002t0010g0149	1	386	0.0026	14	c.492 others(31): Show c.492+2080_492+2081insGTGTGTGTATATAT	CEP89	ENSG00000121289.18	transcript	ENST00000305768.10	protein_coding	4/18			chr19	TogoVar
CEP97_chr3_101719614_101775562	101722398	A A	AGTGCCTG others(7): Show AGTGCCTGGAAATCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	352	0.0028	14	c.-22 others(25): Show c.-2279_-2278insGTGCCTGGAAATCT	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		2215		chr3	TogoVar
CEP97_chr3_101719614_101775562	101723052	A A	AATATATA others(7): Show AATATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	352	0.0028	14	c.-16 others(25): Show c.-1625_-1624insATATATAAATATAT	CEP97	ENSG00000182504.12	transcript	ENST00000341893.8	protein_coding		1561		chr3	TogoVar
CEPT1_chr1_111135223_111190104	111149266	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01346.hp2 HG01884.hp2 others(17): Show HG01169.hp1 HG01346.hp2 HG01884.hp2 HG02132.hp2 HG02257.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp2 HG03098.hp2 HG03540.hp1 HG03688.hp1 HG03831.hp1 HG04199.hp2 NA18522.hp2 NA18956.hp2 NA18957.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0090 others(14): Show a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0284 a0001c0001t0003g0263 a0001c0001t0005g0061 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0296 a0001c0001t0006g0060 a0001c0001t0006g0295	20	410	0.0488	14	c.339 others(31): Show c.339+1214_339+1227dupTTTTTTTTTTTTTT	CEPT1	ENSG00000134255.16	transcript	ENST00000357172.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEPT1_chr1_111135223_111190104	111187976	C C	CTTAGGTT others(7): Show CTTAGGTTTCAGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	410	0.0024	14	c.36 others(25): Show c.3666_*3667insTTAGGTTTCAGGTT	CEPT1	ENSG00000134255.16	transcript	ENST00000357172.9	protein_coding		2873		chr1	TogoVar
CERKL_chr2_181531672_181662105	181547906	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(207): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0010 others(13): Show a0001c0001 a0001c0002 a0001c0010 a0001c0014 a0002c0003 a0002c0004 a0002c0009 a0003c0005 a0004c0008 a0005c0007 a0006c0017 a0007c0015 a0008c0012 a0009c0016 a0010c0011 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0002t0022 a0001c0002t0025 a0001c0010t0001 a0001c0014t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0007 a0002c0003t0009 a0002c0003t0011 a0002c0003t0027 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0011 a0002c0009t0004 a0003c0005t0008 a0004c0008t0001 a0005c0007t0008 a0006c0017t0001 a0007c0015t0001 a0008c0012t0001 a0009c0016t0002 a0010c0011t0002 a0011c0013t0001	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 others(205): Show a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0199 a0001c0001t0006g0217 a0001c0001t0007g0143 a0001c0001t0010g0184 a0001c0001t0010g0200 a0001c0001t0010g0212 a0001c0001t0013g0208 a0001c0001t0015g0261 a0001c0001t0015g0270 a0001c0001t0021g0183 a0001c0001t0024g0193 a0001c0001t0026g0265 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0002g0012 a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0028 a0001c0002t0002g0066 a0001c0002t0002g0071 a0001c0002t0002g0116 a0001c0002t0002g0124 a0001c0002t0002g0127 a0001c0002t0003g0027 a0001c0002t0003g0140 a0001c0002t0005g0003 a0001c0002t0005g0054 a0001c0002t0005g0058 a0001c0002t0005g0059 a0001c0002t0005g0084 a0001c0002t0005g0090 a0001c0002t0006g0122 a0001c0002t0013g0138 a0001c0002t0022g0030 a0001c0002t0025g0019 a0001c0010t0001g0007 a0001c0014t0001g0055 a0002c0003t0001g0103 a0002c0003t0002g0125 a0002c0003t0004g0004 a0002c0003t0004g0013 a0002c0003t0004g0095 a0002c0003t0004g0096 a0002c0003t0004g0099 a0002c0003t0004g0100 a0002c0003t0004g0101 a0002c0003t0004g0107 a0002c0003t0004g0111 a0002c0003t0004g0113 a0002c0003t0004g0115 a0002c0003t0004g0117 a0002c0003t0004g0118 a0002c0003t0004g0119 a0002c0003t0004g0126 a0002c0003t0004g0139 a0002c0003t0007g0121 a0002c0003t0007g0135 a0002c0003t0007g0136 a0002c0003t0009g0094 a0002c0003t0009g0104 a0002c0003t0009g0110 a0002c0003t0009g0120 a0002c0003t0011g0023 a0002c0003t0011g0024 a0002c0003t0027g0114 a0002c0004t0001g0147 a0002c0004t0002g0219 a0002c0004t0002g0244 a0002c0004t0002g0259 a0002c0004t0002g0275 a0002c0004t0002g0288 a0002c0004t0002g0289 a0002c0004t0004g0151 a0002c0004t0004g0186 a0002c0004t0004g0191 a0002c0004t0004g0201 a0002c0004t0004g0207 a0002c0004t0004g0225 a0002c0004t0004g0245 a0002c0004t0004g0247 a0002c0004t0004g0248 a0002c0004t0004g0258 a0002c0004t0004g0260 a0002c0004t0004g0262 a0002c0004t0004g0263 a0002c0004t0004g0264 a0002c0004t0011g0246 a0002c0009t0004g0006 a0003c0005t0008g0130 a0003c0005t0008g0131 a0004c0008t0001g0016 a0004c0008t0001g0017 a0005c0007t0008g0069 a0005c0007t0008g0093 a0006c0017t0001g0285 a0007c0015t0001g0053 a0008c0012t0001g0009 a0009c0016t0002g0133 a0010c0011t0002g0008 a0011c0013t0001g0047	210	298	0.7047	14	c.113 others(29): Show c.1134-60_1134-59insGTGTGTGTGTGTGT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	8/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0095 a0002c0003t0004g0095	1	298	0.0034	14	c.239 others(31): Show c.239-5468_239-5455dupTTTTTTTTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERK_chr22_46679410_46743252	46691056	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00639.hp2 others(41): Show HG00438.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01099.hp1 HG01255.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02148.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18980.hp1 NA18982.hp1 NA18993.hp2 NA19004.hp2 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19067.hp2 NA19076.hp1 NA19076.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0017 a0019 a0021	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0018 a0001c0033 a0001c0038 a0002c0006 a0004c0014 a0004c0021 a0006c0015 a0017c0029 a0019c0031 a0021c0022	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(18): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0043 a0001c0002t0002 a0001c0003t0012 a0001c0004t0005 a0001c0004t0012 a0001c0004t0017 a0001c0004t0025 a0001c0018t0005 a0001c0033t0005 a0001c0038t0004 a0002c0006t0005 a0004c0014t0005 a0004c0021t0005 a0006c0015t0005 a0017c0029t0007 a0019c0031t0004 a0021c0022t0004	a0001c0001t0004g0072 a0001c0001t0004g0115 a0001c0001t0004g0118 others(40): Show a0001c0001t0004g0072 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0144 a0001c0001t0004g0152 a0001c0001t0005g0016 a0001c0001t0005g0052 a0001c0001t0005g0078 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0007g0009 a0001c0001t0007g0176 a0001c0001t0007g0220 a0001c0001t0007g0236 a0001c0001t0007g0249 a0001c0001t0007g0253 a0001c0001t0007g0256 a0001c0001t0007g0260 a0001c0001t0007g0282 a0001c0001t0012g0230 a0001c0001t0012g0266 a0001c0001t0012g0267 a0001c0001t0012g0270 a0001c0001t0043g0033 a0001c0002t0002g0283 a0001c0003t0012g0246 a0001c0004t0005g0105 a0001c0004t0005g0128 a0001c0004t0012g0217 a0001c0004t0017g0211 a0001c0004t0025g0070 a0001c0018t0005g0029 a0001c0033t0005g0030 a0001c0038t0004g0134 a0002c0006t0005g0063 a0004c0014t0005g0012 a0004c0021t0005g0011 a0006c0015t0005g0123 a0017c0029t0007g0175 a0019c0031t0004g0150 a0021c0022t0004g0013	44	340	0.1294	14	c.133 others(31): Show c.1332+502_1332+515dupGTGTGTGTGTGTGT	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	11/12			chr22	TogoVar
CERK_chr22_46679410_46743252	46719148	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0060 a0001c0018t0060	a0001c0018t0060g0183 a0001c0018t0060g0183	1	340	0.0029	14	c.379 others(29): Show c.379+924_379+937dupCACACACACACACA	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	3/12			chr22	TogoVar
CERS3_chr15_100395395_100533950	100466853	C C	CTCTCTTT others(7): Show CTCTCTTTCTCTCTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	362	0.0028	14	c.845 others(31): Show c.845+2524_845+2525insAAGAGAGAAAGAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467846	T T	TAGATAGA others(7): Show TAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19056.hp1 HG02132.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0201 a0001c0001t0001g0174 a0001c0001t0001g0201	2	362	0.0055	14	c.845 others(31): Show c.845+1531_845+1532insCTATCTATCTATCT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467850	T T	TAGATAGA others(7): Show TAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00639.hp2 others(43): Show HG00408.hp2 HG00423.hp1 HG00639.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01496.hp1 HG01975.hp1 HG01993.hp2 HG02145.hp1 HG02559.hp1 HG02572.hp2 HG02809.hp2 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18952.hp1 NA18959.hp2 NA18962.hp1 NA18969.hp1 NA18971.hp2 NA18993.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0003t0022 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0109 others(43): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0271 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0020g0248 a0001c0001t0026g0139 a0001c0001t0027g0142 a0001c0001t0030g0115 a0001c0001t0031g0234 a0001c0003t0022g0360 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0057	46	362	0.1271	14	c.845 others(31): Show c.845+1527_845+1528insCTATCTATCTATCT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467850	T T	TATATAGA others(7): Show TATATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03098.hp1 HG01074.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0008 a0001c0003t0007 a0001c0003t0008	a0001c0003t0007g0357 a0001c0003t0008g0112 a0001c0003t0007g0357 a0001c0003t0008g0112	2	362	0.0055	14	c.845 others(31): Show c.845+1527_845+1528insCTATCTATCTATAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100467874	G G	GATAGATA others(7): Show GATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0348 a0001c0003t0012g0348	1	362	0.0028	14	c.845 others(31): Show c.845+1503_845+1504insATCTATCTATCTAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100483787	A A	ATTATTAT others(7): Show ATTATTATTATTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01496.hp1 others(5): Show HG00735.hp1 HG01099.hp1 HG01496.hp1 HG02723.hp1 HG02809.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0014 a0001c0001t0001 a0002c0002t0001 a0002c0002t0014	a0001c0001t0001g0194 a0002c0002t0001g0037 a0002c0002t0001g0040 others(5): Show a0001c0001t0001g0194 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0014g0036 a0002c0002t0014g0241 a0002c0002t0014g0297	8	362	0.0221	14	c.407 others(29): Show c.407+762_407+763insAAAAATAATAATAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	5/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100483787	A A	ATTATTAT others(7): Show ATTATTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02015.hp1 HG02630.hp2 others(5): Show HG00140.hp2 HG02015.hp1 HG02630.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG03486.hp2 HG06807.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0004 a0002c0002t0006 a0005c0008t0015 a0002c0002t0004 a0002c0002t0006 a0005c0008t0015	a0002c0002t0004g0010 a0002c0002t0004g0011 a0002c0002t0004g0041 others(5): Show a0002c0002t0004g0010 a0002c0002t0004g0011 a0002c0002t0004g0041 a0002c0002t0004g0043 a0002c0002t0004g0273 a0002c0002t0006g0038 a0002c0002t0006g0039 a0005c0008t0015g0044	8	362	0.0221	14	c.407 others(29): Show c.407+762_407+763insAAAAAAAATAATAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	5/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100483787	A A	ATTATTTT others(7): Show ATTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0013 a0002c0002t0004g0014	2	362	0.0055	14	c.407 others(29): Show c.407+762_407+763insAAAAAAAAAAATAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	5/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100494210	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	362	0.0028	14	c.174 others(31): Show c.174-3293_174-3280dupATATATATATATAT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100526478	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(70): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp2 HG01891.hp1 HG01928.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18982.hp2 NA18984.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19084.hp1 NA19090.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0003t0007 a0001c0007t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0007c0012t0001	a0001c0001t0001g0109 a0001c0001t0001g0189 a0001c0001t0001g0190 others(70): Show a0001c0001t0001g0109 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0015 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0204 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0003g0032 a0001c0001t0004g0067 a0001c0001t0008g0034 a0001c0001t0008g0104 a0001c0001t0023g0301 a0001c0003t0007g0357 a0001c0003t0007g0358 a0001c0003t0007g0361 a0001c0007t0002g0287 a0002c0002t0001g0106 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0041 a0002c0002t0004g0058 a0002c0002t0004g0273 a0002c0002t0006g0105 a0002c0002t0006g0108 a0007c0012t0001g0107	73	362	0.2017	14	c.-92 others(31): Show c.-92+2321_-92+2334dupCACACACACACACA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	1/11			chr15	TogoVar

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