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
CDH4_chr20_61247261_61945617	61273360	T T	TATTGGGG others(26): Show TATTGGGGGAGTACCACGTGCAGTTTGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03579.hp1 HG01255.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0035 a0001c0007t0009 a0001c0003t0035 a0001c0007t0009	a0001c0003t0035g0043 a0001c0007t0009g0044 a0001c0003t0035g0043 a0001c0007t0009g0044	2	106	0.0189	33	c.169 others(52): Show c.169+18424_169+18425insTTGGGGGAGTACCACGTGCAGTTTGG GGGAGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61283441	T T	TGTGATGT others(26): Show TGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp1 HG02451.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0027 a0001c0003t0001 a0001c0001t0027 a0001c0003t0001	a0001c0001t0027g0019 a0001c0003t0001g0015 a0001c0001t0027g0019 a0001c0003t0001g0015	2	34	0.0588	33	c.169 others(52): Show c.169+28507_169+28508insATGTGTGTGCGTTTGCACGCGTGTGC TGTGGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61565334	G G	GCGGTGCT others(26): Show GCGGTGCTCTTGGTGGTGGCGGTGCTCTTGGTGA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0057 a0002c0002t0036g0057	1	100	0.0100	33	c.170 others(54): Show c.170-178229_170-178228insCGGTGCTCTTGGTGGTGGCGGTGC TCTTGGTGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61647550	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0043 a0003c0018t0043	a0003c0018t0043g0052 a0003c0018t0043g0052	1	102	0.0098	33	c.170 others(52): Show c.170-96012_170-96011insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65782008	C C	CCTCCTTT others(26): Show CCTCCTTTCTCTCTTTCTCCTCTTTCTCTCATCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0082 a0001c0024t0002g0082	1	197	0.0051	33	c.210 others(52): Show c.210+18956_210+18957insCTCCTTTCTCTCTTTCTCCTCTTTCT CTCATCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11			chr18	TogoVar
CDH9_chr5_26875597_27043586	26924518	A A	AATATATA others(26): Show AATATATATATATTATATATATAAAATAAGTATT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 NA18971.hp1 others(2): Show HG01257.hp1 HG01258.hp1 NA18971.hp1 NA19001.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0087	5	233	0.0215	33	c.229 others(50): Show c.229-8627_229-8595dupAATACTTATTTTATATATATAATATATA TATAT	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDH9_chr5_26875597_27043586	26954388	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG06807.hp2 HG00639.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0151 a0002c0002t0001g0152	2	6	0.3333	33	c.228 others(52): Show c.228+33717_228+33718insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDH9_chr5_26875597_27043586	26968701	T T	TTTATTAA others(26): Show TTTATTAATAAGTATTACTTAATAAGTAATTAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02896.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0003 a0001c0001 a0001c0007 a0003c0003	a0001c0001t0001 a0001c0007t0001 a0003c0003t0001 a0001c0001t0001 a0001c0007t0001 a0003c0003t0001	a0001c0001t0001g0029 a0001c0007t0001g0028 a0003c0003t0001g0235 a0001c0001t0001g0029 a0001c0007t0001g0028 a0003c0003t0001g0235	3	238	0.0126	33	c.228 others(52): Show c.228+19404_228+19405insCTTAATTACTTATTAAGTAATACTTA TTAATAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDHR2_chr5_176544342_176600824	176591825	G G	GTGATGGT others(26): Show GTGATGGTGGTGATGATGGTGATGATGACAACAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02897.hp2 others(2): Show HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03209.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0006 a0004c0039 a0013c0022 a0001c0006 a0004c0039 a0013c0022	a0001c0006t0001 a0004c0039t0001 a0013c0022t0001 a0001c0006t0001 a0004c0039t0001 a0013c0022t0001	a0001c0006t0001g0134 a0001c0006t0001g0163 a0004c0039t0001g0029 others(2): Show a0001c0006t0001g0134 a0001c0006t0001g0163 a0004c0039t0001g0029 a0013c0022t0001g0249 a0013c0022t0001g0250	5	342	0.0146	33	c.373 others(50): Show c.3734+361_3734+362insATGATGACAACAATGATGGTGGTGATGA TGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK12_chr17_39456486_39539544	39476711	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	35	0.0286	33	c.193 others(52): Show c.1931+4977_1931+4978insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00597.hp2 others(27): Show HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00642.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01255.hp1 HG01256.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02602.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp2 NA18949.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA19001.hp2 NA19002.hp1 NA19055.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0028 a0001c0001t0038 a0001c0001t0051	a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 others(26): Show a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0215 a0001c0001t0001g0266 a0001c0001t0001g0281 a0001c0001t0002g0008 a0001c0001t0002g0166 a0001c0001t0002g0211 a0001c0001t0002g0241 a0001c0001t0002g0247 a0001c0001t0002g0259 a0001c0001t0002g0306 a0001c0001t0003g0111 a0001c0001t0004g0173 a0001c0001t0004g0196 a0001c0001t0005g0209 a0001c0001t0005g0234 a0001c0001t0005g0251 a0001c0001t0007g0048 a0001c0001t0008g0205 a0001c0001t0009g0227 a0001c0001t0015g0207 a0001c0001t0016g0212 a0001c0001t0025g0115 a0001c0001t0028g0088 a0001c0001t0038g0007 a0001c0001t0051g0143	30	175	0.1714	33	c.100 others(52): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK2AP1_chr12_123255976_123276856	123274888	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG03041.hp2 HG03139.hp1 others(1): Show HG00140.hp1 HG03041.hp2 HG03139.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0046 others(1): Show a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0002g0081	4	61	0.0656	33	c.-32 others(44): Show c.-3271_-3270insTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3033		chr12	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0038 a0002c0007t0038	a0002c0007t0038g0173 a0002c0007t0038g0173	1	145	0.0069	33	c.105 others(52): Show c.1055+2971_1055+2972insTATATATATATATATATATATATATA TATATAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21075183	A A	AGATATAC others(26): Show AGATATACTATTTTCTGAGATACGTTTTATTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp1 others(20): Show HG00099.hp2 HG00140.hp2 HG00639.hp1 HG01106.hp1 HG01109.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01934.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02630.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03834.hp1 NA18906.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0032 a0001c0001t0042 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0004t0001 a0001c0004t0004 a0001c0004t0018 a0002c0003t0003 a0003c0016t0001	a0001c0001t0001g0136 a0001c0001t0001g0188 a0001c0001t0004g0031 others(20): Show a0001c0001t0001g0136 a0001c0001t0001g0188 a0001c0001t0004g0031 a0001c0001t0004g0097 a0001c0001t0012g0168 a0001c0001t0015g0186 a0001c0001t0032g0196 a0001c0001t0042g0142 a0001c0002t0003g0140 a0001c0002t0003g0150 a0001c0002t0003g0184 a0001c0002t0005g0064 a0001c0002t0006g0050 a0001c0002t0006g0053 a0001c0002t0006g0110 a0001c0002t0009g0183 a0001c0004t0001g0099 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0004g0102 a0001c0004t0018g0015 a0002c0003t0003g0107 a0003c0016t0001g0185	23	194	0.1186	33	c.123 others(52): Show c.1236+9957_1236+9989dupATATACTATTTTCTGAGATACGTTTT ATTTCTG	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL2_chr4_75571496_75635528	75627980	A A	AATTAAAT others(26): Show AATTAAATTAAATTTTATTAAATTTAATGTAATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	304	0.0033	33	c.-29 others(50): Show c.-29-1996_-29-1964dupAATTACATTAAATTTAATAAAATTTAAT TTAAT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	1/13			chr4	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18951.hp1 NA18959.hp1 others(1): Show HG04199.hp1 NA18951.hp1 NA18959.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	4	70	0.0571	33	c.151 others(48): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18951.hp1 NA18959.hp1 others(1): Show HG04199.hp1 NA18951.hp1 NA18959.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0226 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0123 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229	4	65	0.0615	33	c.194 others(48): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990651	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01258.hp1 HG00558.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0324 a0001c0001t0001g0020 a0001c0001t0001g0324	2	378	0.0053	33	c.193 others(50): Show c.193+3487_193+3488insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDNF_chr10_14814245_14843037	14826014	C C	CAGAAGCA others(26): Show CAGAAGCAGAAGAAGGAGAAGGAGAAGGAGAAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp2 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	378	0.0053	33	c.244 others(48): Show c.244-395_244-394insTCTTCTCCTTCTCCTTCTCCTTCTTCTGCT TCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDRT4_chr17_15431015_15472621	15435748	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	6	0.1667	33	c.20 others(44): Show c.2024_*2025insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDRT4	ENSG00000239704.12	transcript	ENST00000619038.5	protein_coding		266		chr17	TogoVar
CEACAM19_chr19_44666482_44689355	44668339	A A	ATATTATT others(26): Show ATATTATTATATTTATATAATATGTTTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0066 a0001c0001t0011g0066	1	93	0.0108	33	c.-35 others(44): Show c.-3593_-3592insTATTATTATATTTATATAATATGTTTATATATT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3142		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44668591	A A	ATACACAT others(26): Show ATACACATATTATATATGTATATAATTATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	387	0.0026	33	c.-33 others(44): Show c.-3341_-3340insTACACATATTATATATGTATATAATTATATAAT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		2890		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44686654	G G	GAAACTCG others(26): Show GAAACTCGTCTCTACTGAAAATACAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	388	0.0026	33	c.31 others(44): Show c.3164_*3165insAAACTCGTCTCTACTGAAAATACAAAAAAAAAA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		2300		chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37193643	A A	AAGAAGAA others(26): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	456	0.0022	33	c.-28 others(44): Show c.-2879_-2878insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding		2852		chr2	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0111 a0001c0001t0006g0111	1	68	0.0147	33	c.72- others(46): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AGAGAGAG others(26): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0022 a0001c0001t0021g0022	1	8	0.1250	33	c.272 others(52): Show c.272-20400_272-20399insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12			chr10	TogoVar
CELF4_chr18_37238040_37570798	37491204	G G	GGACGCCG others(26): Show GGACGCCGTGCCCACCTCCTCTCCTCACCCGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	181	0.0055	33	c.287 others(50): Show c.287-5598_287-5597insTCTCGGGTGAGGAGAGGAGGTGGGCACG GCGTC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF5_chr19_3219661_3302076	3299563	T T	TTCTTCTT others(26): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0154 a0001c0001t0005g0154	1	253	0.0040	33	c.28 others(44): Show c.2846_*2847insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2488		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46359514	G G	GGTCACCC others(26): Show GGTCACCCCTGTTACCTGGGCCGAAGCAGCTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01106.hp2 others(2): Show HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01515.hp2 HG03834.hp1	a0001 a0012 a0014 a0001 a0012 a0014	a0001c0001 a0001c0004 a0012c0029 others(1): Show a0001c0001 a0001c0004 a0012c0029 a0014c0031	a0001c0001t0001 a0001c0004t0001 a0012c0029t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0012c0029t0001 a0014c0031t0001	a0001c0001t0001g0048 a0001c0004t0001g0032 a0001c0004t0001g0057 others(2): Show a0001c0001t0001g0048 a0001c0004t0001g0032 a0001c0004t0001g0057 a0012c0029t0001g0033 a0014c0031t0001g0083	5	9	0.5556	33	c.37 others(44): Show c.3708_*3709insTGCAGCTGCTTCGGCCCAGGTAACAGGGGTGAC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding		1659		chr22	TogoVar
CELSR1_chr22_46356174_46542620	46359514	G G	GGTCACCC others(26): Show GGTCACCCCTGTTACCTGGGCCGAAGCAGCTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00609.hp1 others(90): Show HG00099.hp1 HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp1 NA18970.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0003 others(40): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046	a0001c0001 a0001c0002 a0001c0006 others(61): Show a0001c0001 a0001c0002 a0001c0006 a0001c0017 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0030 a0001c0033 a0001c0038 a0001c0039 a0001c0043 a0002c0005 a0002c0012 a0002c0015 a0002c0016 a0002c0050 a0003c0003 a0004c0013 a0004c0023 a0004c0051 a0005c0052 a0005c0053 a0006c0022 a0006c0034 a0007c0019 a0007c0047 a0009c0024 a0010c0032 a0011c0008 a0013c0007 a0015c0044 a0016c0060 a0017c0045 a0018c0011 a0019c0068 a0020c0010 a0021c0036 a0022c0058 a0023c0059 a0024c0054 a0025c0020 a0026c0063 a0027c0057 a0028c0021 a0029c0064 a0030c0055 a0031c0062 a0032c0018 a0033c0065 a0034c0066 a0035c0046 a0036c0041 a0037c0040 a0038c0048 a0039c0061 a0040c0049 a0041c0069 a0042c0056 a0043c0042 a0044c0067 a0045c0037 a0046c0035	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(64): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0002t0001 a0001c0006t0001 a0001c0017t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0001c0028t0001 a0001c0030t0001 a0001c0033t0001 a0001c0038t0001 a0001c0039t0001 a0001c0043t0001 a0002c0005t0002 a0002c0012t0003 a0002c0015t0001 a0002c0016t0003 a0002c0050t0003 a0003c0003t0001 a0004c0013t0001 a0004c0023t0001 a0004c0051t0001 a0005c0052t0001 a0005c0053t0001 a0006c0022t0004 a0006c0034t0002 a0007c0019t0001 a0007c0047t0001 a0009c0024t0001 a0010c0032t0002 a0011c0008t0001 a0013c0007t0001 a0015c0044t0001 a0016c0060t0002 a0017c0045t0001 a0018c0011t0002 a0019c0068t0005 a0020c0010t0001 a0021c0036t0006 a0022c0058t0001 a0023c0059t0001 a0024c0054t0001 a0025c0020t0002 a0026c0063t0001 a0027c0057t0004 a0028c0021t0001 a0029c0064t0002 a0030c0055t0001 a0031c0062t0003 a0032c0018t0002 a0033c0065t0002 a0034c0066t0009 a0035c0046t0001 a0036c0041t0002 a0037c0040t0010 a0038c0048t0001 a0039c0061t0013 a0040c0049t0001 a0041c0069t0007 a0042c0056t0001 a0043c0042t0001 a0044c0067t0001 a0045c0037t0008 a0046c0035t0001	a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 others(90): Show a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0011g0028 a0001c0001t0012g0034 a0001c0001t0016g0069 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0006t0001g0044 a0001c0006t0001g0064 a0001c0017t0001g0018 a0001c0025t0001g0070 a0001c0026t0001g0040 a0001c0027t0001g0079 a0001c0028t0001g0038 a0001c0030t0001g0047 a0001c0033t0001g0058 a0001c0038t0001g0073 a0001c0039t0001g0088 a0001c0043t0001g0027 a0002c0005t0002g0036 a0002c0005t0002g0065 a0002c0012t0003g0012 a0002c0015t0001g0022 a0002c0016t0003g0025 a0002c0050t0003g0053 a0003c0003t0001g0008 a0003c0003t0001g0009 a0004c0013t0001g0023 a0004c0023t0001g0042 a0004c0051t0001g0031 a0005c0052t0001g0090 a0005c0053t0001g0089 a0006c0022t0004g0039 a0006c0034t0002g0066 a0007c0019t0001g0024 a0007c0047t0001g0080 a0009c0024t0001g0046 a0010c0032t0002g0050 a0011c0008t0001g0005 a0013c0007t0001g0004 a0015c0044t0001g0062 a0016c0060t0002g0097 a0017c0045t0001g0030 a0018c0011t0002g0011 a0019c0068t0005g0001 a0020c0010t0001g0007 a0021c0036t0006g0002 a0022c0058t0001g0094 a0023c0059t0001g0095 a0024c0054t0001g0091 a0025c0020t0002g0020 a0026c0063t0001g0098 a0027c0057t0004g0096 a0028c0021t0001g0061 a0029c0064t0002g0101 a0030c0055t0001g0092 a0031c0062t0003g0099 a0032c0018t0002g0021 a0033c0065t0002g0103 a0034c0066t0009g0104 a0035c0046t0001g0035 a0036c0041t0002g0054 a0037c0040t0010g0068 a0038c0048t0001g0086 a0039c0061t0013g0100 a0040c0049t0001g0055 a0041c0069t0007g0003 a0042c0056t0001g0093 a0043c0042t0001g0052 a0044c0067t0001g0102 a0045c0037t0008g0026 a0046c0035t0001g0076	93	97	0.9588	33	c.37 others(44): Show c.3708_*3709insTACAGCTGCTTCGGCCCAGGTAACAGGGGTGAC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding		1659		chr22	TogoVar
CELSR1_chr22_46356174_46542620	46373421	C C	CGGGGGGG others(26): Show CGGGGGGGCAGCTTCACACCCAGTGCTCGGGGTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19030.hp1 NA20752.hp1 NA18995.hp1 NA19030.hp1 NA20752.hp1	a0001 a0041 a0001 a0041	a0001c0001 a0041c0069 a0001c0001 a0041c0069	a0001c0001t0001 a0001c0001t0016 a0041c0069t0007 a0001c0001t0001 a0001c0001t0016 a0041c0069t0007	a0001c0001t0001g0041 a0001c0001t0016g0069 a0041c0069t0007g0003 a0001c0001t0001g0041 a0001c0001t0016g0069 a0041c0069t0007g0003	3	98	0.0306	33	c.758 others(50): Show c.7585-397_7585-365dupAACCCCGAGCACTGGGTGTGAAGCTGCC CCCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	24/34			chr22	TogoVar
CELSR3_chr3_48631463_48667886	48635260	C C	CCGAGGCG others(26): Show CCGAGGCGTCGCAAGCGGAGAATGCCTGCTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 NA19030.hp2 HG02723.hp1 NA19030.hp2	a0007 a0023 a0007 a0023	a0007c0013 a0023c0036 a0007c0013 a0023c0036	a0007c0013t0001 a0023c0036t0001 a0007c0013t0001 a0023c0036t0001	a0007c0013t0001g0024 a0023c0036t0001g0096 a0007c0013t0001g0024 a0023c0036t0001g0096	2	149	0.0134	33	c.29 others(44): Show c.2912_*2944dupCTGGAGCAGGCATTCTCCGCTTGCGACGCCTCG	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding		1202		chr3	TogoVar
CENATAC_chr11_118993138_119020793	119018597	C C	CATCGCCC others(26): Show CATCGCCCCCCCAATTCCTCCCGCGCGGGCGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	316	0.0032	33	c.29 others(44): Show c.2999_*3000insATCGCCCCCCCAATTCCTCCCGCGCGGGCGTTT	CENATAC	ENSG00000186166.9	transcript	ENST00000334418.6	protein_coding		2805		chr11	TogoVar
CENPI_chrX_101093204_101171126	101162473	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0018 a0001c0002t0005g0018	1	147	0.0068	33	c.213 others(50): Show c.2137-360_2137-359insTATATATATATATATATATATATATATA TATAT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	21/21			chrX	TogoVar
CENPP_chr9_92320953_92625529	92533328	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	97	0.0103	33	c.565 others(52): Show c.565-77985_565-77984insAAATATATATATATATATATATATAT ATATATA	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP112_chr17_65630537_66197133	65870065	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG02683.hp2 others(2): Show HG01243.hp2 HG02486.hp1 HG02683.hp2 HG03017.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0006 a0001c0002 a0002c0001 a0003c0006	a0001c0002t0001 a0002c0001t0001 a0003c0006t0001 a0001c0002t0001 a0002c0001t0001 a0003c0006t0001	a0001c0002t0001g0057 a0002c0001t0001g0036 a0002c0001t0001g0096 others(2): Show a0001c0002t0001g0057 a0002c0001t0001g0036 a0002c0001t0001g0096 a0002c0001t0001g0103 a0003c0006t0001g0022	5	63	0.0794	33	c.216 others(54): Show c.2164-18032_2164-18031insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP19_chr3_196701277_196717250	196703585	C C	CGCCCCAG others(26): Show CGCCCCAGGCAGCCATAATCAATTCCCATCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	417	0.0024	33	c.39 others(44): Show c.3933_*3965dupTGGGGATGGGAATTGATTATGGCTGCCTGGGGC	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2691		chr3	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	57	0.0175	33	c.102 others(54): Show c.1021-18981_1021-18980insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118595927	C C	CTAAAATA others(26): Show CTAAAATATGTTGTAGATACAATCTAAAAGTAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	300	0.0033	33	c.233 others(52): Show c.233-29644_233-29612dupTTTACTTTTAGATTGTATCTACAACA TATTTTA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GTGTGTGT others(26): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0272 a0002c0002t0002g0272	1	117	0.0085	33	c.232 others(52): Show c.232+32152_232+32153insACACACACACACACACACACACACAC ACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CER1_chr9_14714724_14727733	14718983	C C	CTAAAATT others(26): Show CTAAAATTTAATGCATTAAAATATCCAGAATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	458	0.0022	33	c.11 others(44): Show c.1106_*1107insAATATTCTGGATATTTTAATGCATTAAATTTTA	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		740		chr9	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0222 a0002c0004t0004g0222	1	34	0.0294	33	c.239 others(50): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03516.hp2 HG02055.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0003c0007t0010 a0001c0001t0002 a0003c0007t0010	a0001c0001t0002g0139 a0003c0007t0010g0006 a0001c0001t0002g0139 a0003c0007t0010g0006	2	41	0.0488	33	c.-1- others(50): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0268 a0002c0003t0004g0268	1	108	0.0093	33	c.51 others(44): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	9	0.1111	33	c.118 others(52): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(26): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG02896.hp1 others(4): Show HG01109.hp2 HG02486.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0005c0008	a0001c0001t0005 a0001c0002t0003 a0002c0003t0001 others(2): Show a0001c0001t0005 a0001c0002t0003 a0002c0003t0001 a0002c0005t0001 a0005c0008t0002	a0001c0001t0005g0169 a0001c0002t0003g0101 a0002c0003t0001g0212 others(3): Show a0001c0001t0005g0169 a0001c0002t0003g0101 a0002c0003t0001g0212 a0002c0003t0001g0266 a0002c0005t0001g0029 a0005c0008t0002g0287	7	282	0.0248	33	c.112 others(52): Show c.1126-1504_1126-1503insAAAAAGAAAAAAAAAAAAGAAAGAAA ACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG06807.hp2 NA18992.hp2 others(1): Show HG02809.hp2 HG06807.hp2 NA18992.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0001g0025 a0001c0001t0003g0054 a0001c0001t0003g0055	4	348	0.0115	33	c.139 others(48): Show c.139+765_139+766insATATATATATATATATATATATATATATAT ATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(26): Show ACCCCCCCCTCAACCTCTGGGCGGGCACGCGCAC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	182	0.0055	33	c.143 others(50): Show c.143+1240_143+1241insGTGCGCGTGCCCGCCCAGAGGTTGAGGG GGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(26): Show ACCCCCCCTCAACCTCTGGGCGGGCACGCGCACC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG00735.hp1 others(23): Show HG00323.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02970.hp1 HG03688.hp2 HG03927.hp1 HG04228.hp1 NA18966.hp1 NA18970.hp1 NA18985.hp1 NA19056.hp2 NA19074.hp1 NA19089.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0006c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0002t0002 a0002c0003t0002 a0003c0004t0002 a0006c0009t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0036 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0008g0210 a0001c0001t0016g0105 a0001c0002t0002g0024 a0001c0002t0002g0225 a0002c0003t0002g0052 a0002c0003t0002g0250 a0002c0003t0002g0253 a0003c0004t0002g0045 a0003c0004t0002g0233 a0003c0004t0002g0239 a0003c0004t0002g0270 a0006c0009t0001g0114	26	207	0.1256	33	c.143 others(50): Show c.143+1240_143+1241insGGTGCGCGTGCCCGCCCAGAGGTTGAGG GGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132823834	C C	CTGTGTGT others(26): Show CTGTGTGTGCTGATGTGTGCTGTGTGTGCAGTGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0043 a0009c0043	a0009c0043t0001 a0009c0043t0001	a0009c0043t0001g0209 a0009c0043t0001g0209	1	244	0.0041	33	c.711 others(52): Show c.7118-8921_7118-8920insTCACTGCACACACAGCACACATCAGC ACACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar

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